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u-displayNone">less</div></div></div><div class="suggested-academics-container"><div class="suggested-academics--header"><p class="ds2-5-body-md-bold">Related Authors</p></div><ul class="suggested-user-card-list"><div class="suggested-user-card"><div class="suggested-user-card__avatar social-profile-avatar-container"><a href="https://independent.academia.edu/MonikaZawadkakunikowska"><img class="profile-avatar u-positionAbsolute" border="0" alt="" src="//a.academia-assets.com/images/s200_no_pic.png" /></a></div><div class="suggested-user-card__user-info"><a class="suggested-user-card__user-info__header ds2-5-body-sm-bold ds2-5-body-link" href="https://independent.academia.edu/MonikaZawadkakunikowska">Monika Zawadka-kunikowska</a></div></div><div class="suggested-user-card"><div class="suggested-user-card__avatar social-profile-avatar-container"><a href="https://independent.academia.edu/S%C5%82awomirWawrzyniak"><img class="profile-avatar u-positionAbsolute" border="0" alt="" 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class="right-panel-container"><div class="user-content-wrapper"><div class="uploads-container" id="social-redesign-work-container"><div class="upload-header"><h2 class="ds2-5-heading-sans-serif-xs">Uploads</h2></div><div class="documents-container backbone-social-profile-documents" style="width: 100%;"><div class="u-taCenter"></div><div class="profile--tab_content_container js-tab-pane tab-pane active" id="all"><div class="profile--tab_heading_container js-section-heading" data-section="Papers" id="Papers"><h3 class="profile--tab_heading_container">Papers by SINDA ZARROUK</h3></div><div class="js-work-strip profile--work_container" data-work-id="101424945"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424945/SARS_CoV_2_infection_complicated_by_neuro_or_psycho_COVID"><img alt="Research paper thumbnail of SARS-CoV-2 infection complicated by neuro- or psycho-COVID" class="work-thumbnail" src="https://attachments.academia-assets.com/101970215/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424945/SARS_CoV_2_infection_complicated_by_neuro_or_psycho_COVID">SARS-CoV-2 infection complicated by neuro- or psycho-COVID</a></div><div class="wp-workCard_item"><span>Neurologia i Neurochirurgia Polska</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">This article is available in open access under Creative Common Attribution-Non-Commercial-No Deri...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span 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href="https://www.academia.edu/101424941/Carriers_of_POLG1_variants_require_investigations_for_multisystem_disease_and_for_mtDNA_variations">Carriers of POLG1 variants require investigations for multisystem disease and for mtDNA variations</a></div><div class="wp-workCard_item"><span>Neurological Research and Practice</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="dd3376562ecfa5e98a29a3a18156bb88" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970213,"asset_id":101424941,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970213/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper 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ZARROUK","url":"https://independent.academia.edu/ZARROUKSINDA"},"attachments":[{"id":101970213,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101970213/thumbnails/1.jpg","file_name":"s42466-022-00195-8.pdf","download_url":"https://www.academia.edu/attachments/101970213/download_file","bulk_download_file_name":"Carriers_of_POLG1_variants_require_inves.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101970213/s42466-022-00195-8-libre.pdf?1683537345=\u0026response-content-disposition=attachment%3B+filename%3DCarriers_of_POLG1_variants_require_inves.pdf\u0026Expires=1740573668\u0026Signature=QcUhazYoKhpoNKdFkwoeNgQswofLANzLJEVm2xpvvAbxDe0OXZca2Qg8bJKXEiREsDEQcn9zL1Icnmv-4TUOld6ub5VBHF8vAPErPuiNhKLqsOKskWEGOf9H4O9xIpNWAcFmG84w4DsamIblIlTBf1ZugrE~zRzQHxvNSIm72juoRGQ~pDIduck2Ldv7MaT1nY-g4zQKXm8RErlYuWv~1qWrBPE4Q9u8IYbql6NXXvJM~jGc49rMXoZ6t8hxo53CkFy7JzgCfWZOardS3~SrO8n1ICZWbSYRemndShT6~aTwPqaruxiROgdq1U5Kv-iDKtX1TpVFZXkQoqlrlHlLdQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424939"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424939/Post_SARS_CoV_2_vaccination_venous_sinus_thrombosis_a_literature_review_of_308_cases"><img alt="Research paper thumbnail of Post-SARS-CoV-2 vaccination venous sinus thrombosis: a literature review of 308 cases" class="work-thumbnail" src="https://attachments.academia-assets.com/101970212/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424939/Post_SARS_CoV_2_vaccination_venous_sinus_thrombosis_a_literature_review_of_308_cases">Post-SARS-CoV-2 vaccination venous sinus thrombosis: a literature review of 308 cases</a></div><div class="wp-workCard_item"><span>The Egyptian Journal of Neurology, Psychiatry and Neurosurgery</span><span>, 2021</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">There is accumulating evidence that SARS-CoV-2 vaccinations can be complicated by venous sinus th...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">There is accumulating evidence that SARS-CoV-2 vaccinations can be complicated by venous sinus thrombosis (VST). This review aimed at summarising and discussing previous and recent advances regarding the diagnosis, pathogenesis, treatment, and outcome of post-SARS-CoV-2 vaccination VST. At least 308 patients with post-SARS-CoV-2 vaccination VST have been reported as per the end of July 2021. Ages among these 308 patients ranged between 22 and 81聽years, 69 were male and 197 were female. Post-SARS-CoV-2 vaccination VST most commonly occurred with the ChAdOx1-S vaccine followed by the BNT126b2 vaccine. In the vast majority of cases, VST occurred after the first dose. Only in six patients did VST occur after the second dose. Latency between vaccination and onset of VST ranged between 0 and 24聽days. Regarding treatment, most patients received heparin followed by oral anticoagulants. Seven patients received IVIGs and six patients received steroids because of concomitant vaccine-induced im...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="146ad70f73b3dcbede425faa59b83cff" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970212,"asset_id":101424939,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970212/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424939"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424939"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424939; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424939]").text(description); $(".js-view-count[data-work-id=101424939]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101424939; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101424939']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "146ad70f73b3dcbede425faa59b83cff" } } $('.js-work-strip[data-work-id=101424939]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101424939,"title":"Post-SARS-CoV-2 vaccination venous sinus thrombosis: a literature review of 308 cases","internal_url":"https://www.academia.edu/101424939/Post_SARS_CoV_2_vaccination_venous_sinus_thrombosis_a_literature_review_of_308_cases","owner_id":199009938,"coauthors_can_edit":true,"owner":{"id":199009938,"first_name":"SINDA","middle_initials":null,"last_name":"ZARROUK","page_name":"ZARROUKSINDA","domain_name":"independent","created_at":"2021-07-19T09:27:58.257-07:00","display_name":"SINDA ZARROUK","url":"https://independent.academia.edu/ZARROUKSINDA"},"attachments":[{"id":101970212,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101970212/thumbnails/1.jpg","file_name":"s41983-021-00431-z.pdf","download_url":"https://www.academia.edu/attachments/101970212/download_file","bulk_download_file_name":"Post_SARS_CoV_2_vaccination_venous_sinus.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101970212/s41983-021-00431-z-libre.pdf?1683537346=\u0026response-content-disposition=attachment%3B+filename%3DPost_SARS_CoV_2_vaccination_venous_sinus.pdf\u0026Expires=1740573668\u0026Signature=YCriHxA4POd~7W2vbL9FGpytX5zZ0aVl5v1r6lA8PQydBoKutLZ5zxC5fDqmz8HsiYp02ab7FinO7t7yVeHJrgYZDPNeTovjQr1ypJ4tDDDJHG~0kjUnqlKf6DjH3Na8gDEgPo8ZTzPxzdWhH2IIyGVfxgkMuFKMjul4Ic1GkpxumCXwp3zgR7bxPi18No596Gkg-y2f2DVQ95f97gbEOykKcB0rGLn37K6ZSn~KZcs0AUr0714bKvtOxC65r3QQUeYtTGEC3vmq~FEn~lq2rs0yyJ7CmaA2vMyWBbljdBJSco63dqo752hxd5UAzid6LXPMW8u7uqJw6ozGCK8w4g__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"},{"id":101970211,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101970211/thumbnails/1.jpg","file_name":"s41983-021-00431-z.pdf","download_url":"https://www.academia.edu/attachments/101970211/download_file","bulk_download_file_name":"Post_SARS_CoV_2_vaccination_venous_sinus.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101970211/s41983-021-00431-z-libre.pdf?1683537349=\u0026response-content-disposition=attachment%3B+filename%3DPost_SARS_CoV_2_vaccination_venous_sinus.pdf\u0026Expires=1740573668\u0026Signature=FTDIC7OyqxIO8y35RjNcy1IfTro2DNohr2diDbHJVCK0y2KKnIREg2RlFBlD5nMOymqoArGZ0Hl4qa3e5yDuM3rcpzte-TDhHa548E1owh2Mi077VmBLUk2P80P3JTr9VS4qA2LTKpYUx8jRis9eQakE87TVmL03pN1fLwPPHs3GAmgDp6laWl~tL1AYRSDV-wHcbVKcFbO~FQ3EIswVkYtA-E1vq3Bo8Wm23jiSpilNed0UvwF7GvI8weCvENPn21VmnuWnKM8nDPdg2Cw-Vq80P0fiq8b64tFPoEQs85regplzEulKfCurEbTcxfUOXs00Ug-St71CrSe~5bT9Dw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424937"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424937/Fatigue_and_Exercise_Intolerance_as_Initial_Manifestations_of_a_Nonsyndromic_Mitochondrial_Disorder_Due_to_the_Variant_m_3243A_G"><img alt="Research paper thumbnail of Fatigue and Exercise Intolerance as Initial Manifestations of a Nonsyndromic Mitochondrial Disorder Due to the Variant m.3243A>G" class="work-thumbnail" src="https://attachments.academia-assets.com/101970209/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424937/Fatigue_and_Exercise_Intolerance_as_Initial_Manifestations_of_a_Nonsyndromic_Mitochondrial_Disorder_Due_to_the_Variant_m_3243A_G">Fatigue and Exercise Intolerance as Initial Manifestations of a Nonsyndromic Mitochondrial Disorder Due to the Variant m.3243A>G</a></div><div class="wp-workCard_item"><span>Case Reports in Neurological Medicine</span><span>, 2022</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Objectives. Fatigue and exercise intolerance have been only rarely reported as initial- and sole-...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Objectives. Fatigue and exercise intolerance have been only rarely reported as initial- and sole-onset manifestations of a mitochondrial disorder (MID). We present a patient with nonsyndromic MID with fatigue and exercise intolerance as its initial manifestations of the disease. Case Report. A 39鈥墆o female experienced fatigue since age 18 and exercise intolerance since age 21. Later on, she developed Hashimoto thyroiditis, recurrent diffuse headache, and double vision upon exercise. Clinical exam revealed short stature, bilateral ptosis, partially reduced tendon reflexes, and hypertrophic calves. Serum lactate was elevated, and the lactate stress test was abnormal. Workup for suspected MID revealed ragged-red fibers and NADH-deficient muscle fibers, and biochemical investigations revealed a mild complex-I defect. mtDNA sequencing revealed the variant m.3243A&gt;G with a heteroplasmy rate of 70% in the muscle. Conclusions. This case shows that the initial manifestation of a MID can b...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="709273efacd6079874576387451d7232" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970209,"asset_id":101424937,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970209/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424937"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424937"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424937; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424937]").text(description); $(".js-view-count[data-work-id=101424937]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101424937; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101424937']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "709273efacd6079874576387451d7232" } } $('.js-work-strip[data-work-id=101424937]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101424937,"title":"Fatigue and Exercise Intolerance as Initial Manifestations of a Nonsyndromic Mitochondrial Disorder Due to the Variant m.3243A\u003eG","internal_url":"https://www.academia.edu/101424937/Fatigue_and_Exercise_Intolerance_as_Initial_Manifestations_of_a_Nonsyndromic_Mitochondrial_Disorder_Due_to_the_Variant_m_3243A_G","owner_id":199009938,"coauthors_can_edit":true,"owner":{"id":199009938,"first_name":"SINDA","middle_initials":null,"last_name":"ZARROUK","page_name":"ZARROUKSINDA","domain_name":"independent","created_at":"2021-07-19T09:27:58.257-07:00","display_name":"SINDA ZARROUK","url":"https://independent.academia.edu/ZARROUKSINDA"},"attachments":[{"id":101970209,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101970209/thumbnails/1.jpg","file_name":"7846852.pdf","download_url":"https://www.academia.edu/attachments/101970209/download_file","bulk_download_file_name":"Fatigue_and_Exercise_Intolerance_as_Init.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101970209/7846852-libre.pdf?1683537347=\u0026response-content-disposition=attachment%3B+filename%3DFatigue_and_Exercise_Intolerance_as_Init.pdf\u0026Expires=1740573668\u0026Signature=OY6i5s8PzzWK1eCxY3Dyaf4yNq~rJfQeFseA7nbYLCzfYj1QSRzLjt0ybseFxbXIUyIsANJLGU2LSYpoH0pCWt86sx-2IiMetF8F4V1bM9CY3UN0Lp4pU7WSU2nDsh0DlhOZ6JdD2z8fhOPAj92FLUxLZ9faDbcVstoaF68j~yi9YyCmQVJpsDEhpyYgiKCTnxrC1AfjqCsZM2qJyZfl84K~aAV6Wed3Q4fK2mMgc7~CHUky0thKVn1iSJGTfqrQQHz0AszgSAAjs7S877095ACtheQji1Ea-LdACAcQ2EDmIwwux7FiQr1g2HShpRgvsCH8J4iRjiNHL5KXclFwXg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424935"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424935/Dilated_Cardiomyopathy_due_to_the_Novel_MT_CYB_Missense_Mutation_m_14757T_C"><img alt="Research paper thumbnail of Dilated Cardiomyopathy due to the Novel MT-CYB Missense Mutation m.14757T>C" class="work-thumbnail" src="https://attachments.academia-assets.com/101970207/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424935/Dilated_Cardiomyopathy_due_to_the_Novel_MT_CYB_Missense_Mutation_m_14757T_C">Dilated Cardiomyopathy due to the Novel MT-CYB Missense Mutation m.14757T>C</a></div><div class="wp-workCard_item"><span>Journal of Medical Cases</span><span>, 2021</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Mitochondrial DNA (mtDNA) mutations frequently manifest with multisystem disease, including cardi...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Mitochondrial DNA (mtDNA) mutations frequently manifest with multisystem disease, including cardiomyopathy (CM). Various studies described mutations in protein-encoding mtDNA genes, such as cytochrome-b, manifesting with CM. A detailed clinical, biochemical, and molecular genetic analysis was performed in a 40-year-old male with dilated CM (DCM) to detect the underlying mtDNA defect. Muscle biopsy showed complex-III deficiency, and sequencing of the cytochrome-b gene revealed the pathogenic variant m.14757T>C in MT-CYB, resulting in the replacement of the hydrophobic methionine by the polar threonine (M4T). By application of the PolyPhen algorithm the variant was predicted as pathogenic. The mutation was not found in 100 healthy controls and never reported as a neutral polymorphism despite extensive sequencing of the cytochrome-b gene in 2,704 normal healthy controls from different ethnic backgrounds. In conclusion, the novel variant m.14757T>C in MT-CYB is associated with DCM suggesting a pathophysiologic role of the variant in the development of DCM.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="54ebbf522413fa76c5c66a2c155857aa" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970207,"asset_id":101424935,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970207/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424935"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424935"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424935; 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424934"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424934/Sinus_venous_thrombosis_as_a_complication_of_COVID_19_associated_hypercoagulability"><img alt="Research paper thumbnail of Sinus venous thrombosis as a complication of COVID-19-associated hypercoagulability" class="work-thumbnail" src="https://attachments.academia-assets.com/101970204/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424934/Sinus_venous_thrombosis_as_a_complication_of_COVID_19_associated_hypercoagulability">Sinus venous thrombosis as a complication of COVID-19-associated hypercoagulability</a></div><div class="wp-workCard_item"><span>The Egyptian Journal of Neurology, Psychiatry and Neurosurgery</span><span>, 2021</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Sinus venous thrombosis (SVT) is an increasingly recognised complication of not only SARS-CoV-2 i...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Sinus venous thrombosis (SVT) is an increasingly recognised complication of not only SARS-CoV-2 infections, but also of SARS-CoV-2 vaccinations. SVT is attributed to hypercoagulability, a common complication of COVID-19, disregarding the severity of the infection. Hypercoagulability in COVID-19 is explained by direct activation of platelets, enhancing coagulation, by direct infection and indirect activation of endothelial cells by SARS-CoV-2, shifting endothelial cells from an anti-thrombotic to a pro-thrombotic state, by direct activation of complement pathways, promoting thrombin generation, or by immune thrombocytopenia, which also generates a thrombogenic state. Since SVT may occur even in anticoagulated COVID-19 patients and may have an unfavourable outcome, all efforts must be made to prevent this complication or to treat it accurately.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="5dcbbd366d8a79ac18e4408df1982b6c" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970204,"asset_id":101424934,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970204/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424934"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424934"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424934; 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424933"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424933/Pay_attention_to_the_skeletal_muscles_in_left_ventricular_hypertrabeculation_noncompaction"><img alt="Research paper thumbnail of Pay attention to the skeletal muscles in left ventricular hypertrabeculation / noncompaction" class="work-thumbnail" src="https://attachments.academia-assets.com/101970202/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424933/Pay_attention_to_the_skeletal_muscles_in_left_ventricular_hypertrabeculation_noncompaction">Pay attention to the skeletal muscles in left ventricular hypertrabeculation / noncompaction</a></div><div class="wp-workCard_item"><span>Polish Archives of Internal Medicine</span><span>, 2015</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">EDITOR Pay attention to the skeletal muscles in left ventricular hypertrabeculation / noncompacti...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">EDITOR Pay attention to the skeletal muscles in left ventricular hypertrabeculation / noncompaction 213 implantable-cardioverter defibrillator (ICD). 1 What was the cause of sudden cardiac death in this particular patient? Did the ICD ever discharged after implantation? Did the patient adhere sufficiently to the medication prescribed? Were the histological findings interpreted as myocardial infarction? Did the histological workup of the myocardium indicate histiocytoid cardiomyopathy, which is particularly frequent in patients with metabolic myopathy? Since LVHT is frequently associated with NMDs, the authors should mention if there was any clinical evidence that the patient suffered from a subclinical muscle disease. Did the patient report muscle cramps, easy fatigability, muscle stiffness, or muscle weakness? Did the patient complain about double vision or hearing impairment? Was the history positive for creatine kinase elevation, episodes of rhabdomyolysis, or malignant hyperthermia? Was lactate ever measured and was it elevated at rest or during mild exercise? Were any of the family members suffering from clinical or subclinical NMD? Overall, this interesting presentation could benefit from providing more clinical details and from more thorough investigations of a possible myopathic background. Additionally, the discrepancy between left ventricular hypertrophy on autopsy and normal myocardial thickness on echocardiography needs to be resolved.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="3f8e1fede2804ec3371b22343f35a0e5" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970202,"asset_id":101424933,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970202/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424933"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424933"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424933; 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424929"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/101424929/Mitochondrial_toxicity_of_cardiac_drugs_and_its_relevance_to_mitochondrial_disorders"><img alt="Research paper thumbnail of Mitochondrial toxicity of cardiac drugs and its relevance to mitochondrial disorders" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/101424929/Mitochondrial_toxicity_of_cardiac_drugs_and_its_relevance_to_mitochondrial_disorders">Mitochondrial toxicity of cardiac drugs and its relevance to mitochondrial disorders</a></div><div class="wp-workCard_item"><span>Expert opinion on drug metabolism & toxicology</span><span>, 2015</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">One target of toxicity caused by cardiac drugs is the mitochondrion. This review focuses on the m...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">One target of toxicity caused by cardiac drugs is the mitochondrion. This review focuses on the mitochondrion-toxic effects of cardiac drugs and the extent to which mitochondrion-mediated side effects influence the treatment of cardiac disease in mitochondrial disorders (MIDs). Areas discussed in this review include the pathogenesis of mitochondrion toxicity and the mechanisms by which cardiac drugs exhibit their mitochondrion-toxic effect. Whenever available, the mitochondrion-toxic effect of cardiac drugs in patients with a MID is highlighted. Most of the drugs used in cardiology are somewhat mitochondrion-toxic. The degree of toxicity, however, is variable and dependent on the type of drug, tissue, organ, subject, cell system investigated, the co-medication, and the conditions under which the investigations have been carried out. Abnormalities induced by mitochondrion-toxic cardiac drugs include impairment of respiratory chain functions resulting in reduced ATP production, increa...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424929"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424929"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424929; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424929]").text(description); $(".js-view-count[data-work-id=101424929]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101424929; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101424929']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=101424929]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101424929,"title":"Mitochondrial toxicity of cardiac drugs and its relevance to mitochondrial disorders","internal_url":"https://www.academia.edu/101424929/Mitochondrial_toxicity_of_cardiac_drugs_and_its_relevance_to_mitochondrial_disorders","owner_id":199009938,"coauthors_can_edit":true,"owner":{"id":199009938,"first_name":"SINDA","middle_initials":null,"last_name":"ZARROUK","page_name":"ZARROUKSINDA","domain_name":"independent","created_at":"2021-07-19T09:27:58.257-07:00","display_name":"SINDA ZARROUK","url":"https://independent.academia.edu/ZARROUKSINDA"},"attachments":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424928"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424928/Novel_m_15434C_A_p_230L_I_Mitochondrial_Cytb_Gene_Missense_Mutation_Associated_with_Dilated_Cardiomyopathy"><img alt="Research paper thumbnail of Novel m.15434C>A (p.230L>I) Mitochondrial Cytb Gene Missense Mutation Associated with Dilated Cardiomyopathy" class="work-thumbnail" src="https://attachments.academia-assets.com/101970201/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424928/Novel_m_15434C_A_p_230L_I_Mitochondrial_Cytb_Gene_Missense_Mutation_Associated_with_Dilated_Cardiomyopathy">Novel m.15434C>A (p.230L>I) Mitochondrial Cytb Gene Missense Mutation Associated with Dilated Cardiomyopathy</a></div><div class="wp-workCard_item"><span>ISRN Cardiology</span><span>, 2012</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Background. Previously it has been shown that various types of hypertrophic and dilative cardiomy...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Background. Previously it has been shown that various types of hypertrophic and dilative cardiomyopathy (hCMP, dCMP) can be attributed to disturbed mitochondrial oxidative energy metabolism. Several studies described mutations in mitochondrial DNA-located genes encoding for subunits of respiratory chain complexes, including the cytochrome b gene (MT-CYB), causing CMPs.Methods and Results. In the present study the MT-CYB gene was analysed in 30 patients with hCMP, 40 patients with dCMP, and 50 controls for alterations. Altogether, 27 MT-CYB variants were detected. Twenty-four of them were single nucleotide polymorphisms defining common haplogroups. The variant m.15434C&gt;A was found in a single patient with severe dCMP and assessed as novel mutation, since it was not found in healthy controls or available data sets, and was nonhaplogroup associated with Phylotree. This variant altered an amino acid (L230I) with a high interspecific amino acid conservation index (CI=97.7%) indicative...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="3777fc57f70d2e5e9e5ff7d692248d3d" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970201,"asset_id":101424928,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970201/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424928"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424928"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424928; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424928]").text(description); $(".js-view-count[data-work-id=101424928]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101424928; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101424928']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "3777fc57f70d2e5e9e5ff7d692248d3d" } } $('.js-work-strip[data-work-id=101424928]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101424928,"title":"Novel m.15434C\u003eA (p.230L\u003eI) Mitochondrial Cytb Gene Missense Mutation Associated with Dilated Cardiomyopathy","internal_url":"https://www.academia.edu/101424928/Novel_m_15434C_A_p_230L_I_Mitochondrial_Cytb_Gene_Missense_Mutation_Associated_with_Dilated_Cardiomyopathy","owner_id":199009938,"coauthors_can_edit":true,"owner":{"id":199009938,"first_name":"SINDA","middle_initials":null,"last_name":"ZARROUK","page_name":"ZARROUKSINDA","domain_name":"independent","created_at":"2021-07-19T09:27:58.257-07:00","display_name":"SINDA ZARROUK","url":"https://independent.academia.edu/ZARROUKSINDA"},"attachments":[{"id":101970201,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101970201/thumbnails/1.jpg","file_name":"251723.pdf","download_url":"https://www.academia.edu/attachments/101970201/download_file","bulk_download_file_name":"Novel_m_15434C_A_p_230L_I_Mitochondrial.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101970201/251723-libre.pdf?1683537354=\u0026response-content-disposition=attachment%3B+filename%3DNovel_m_15434C_A_p_230L_I_Mitochondrial.pdf\u0026Expires=1740573668\u0026Signature=DfQIeBmi~8FPkpTsSeK~6l5oHWIBjhNvvtO60T607Cx9qN-F54mQ76jxoYXf77RF7u3YScpW5I57MbA-9KJvdVHuBlonPhbF--P5GYbDjSL9AaitSDKR6j9TzvOOuR4y8--b9-D9LbC9pMRb1DPSByqrt5yXOTnP61r85LpBr9z2N-hdT85sQMyDoEs7WC5zpTz8B1OSVJizE8ItxrZKxI~OyU2qZeNkwR02a42X2~jS3KJjcEr6hpWy3ptN4P1Qdp026UZrXvzPT2Wc47OCfWsFAoPf~9vPrdnYXsiLtv9x8eQtuZUCk3ivbgqo4scplj7PPKcSUZcJf2dN1c3hBg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"},{"id":101970200,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101970200/thumbnails/1.jpg","file_name":"251723.pdf","download_url":"https://www.academia.edu/attachments/101970200/download_file","bulk_download_file_name":"Novel_m_15434C_A_p_230L_I_Mitochondrial.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101970200/251723-libre.pdf?1683537350=\u0026response-content-disposition=attachment%3B+filename%3DNovel_m_15434C_A_p_230L_I_Mitochondrial.pdf\u0026Expires=1740573668\u0026Signature=Ui6F7KIiGaqWFxkq06~rhTgfv0vdtZyrByJh7aee0F51quYSZwJNOiA51H5FATEfCPP7BVp8XcZ7pseB3~O6I4RlBGFZ7APJWuR1RwGbf27xALMsS~LUsWiV3hvdl9s~BoXXD2Ah-gmiys8~U5hQUptbKA0kynN6Od9xolVI5IVC8eyE0a9yGuna8AbtewMnto8R0tPSZ6-lNWLYY5Ft3pX3PGcUBlezazA7SMM5x-p6W79HP5wzTcLUOQ4tbO5499mfWUT1949zVlOWUFWSzt43ryFaOpbHXwKgjueEbVEndxGD5D~EFr87ZN-C~4b7U3oyUhMORdHkU0oFV8C38A__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424926"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424926/Epilepsy_and_noncompaction"><img alt="Research paper thumbnail of Epilepsy and noncompaction" class="work-thumbnail" src="https://attachments.academia-assets.com/101970264/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424926/Epilepsy_and_noncompaction">Epilepsy and noncompaction</a></div><div class="wp-workCard_item"><span>Netherlands Heart Journal</span><span>, 2013</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="99158bc412673e0292328142da8b4d8b" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970264,"asset_id":101424926,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970264/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424926"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424926"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424926; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424926]").text(description); $(".js-view-count[data-work-id=101424926]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101424926; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101424926']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424925"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424925/Epilepsy_in_mitochondrial_disorders"><img alt="Research paper thumbnail of Epilepsy in mitochondrial disorders" class="work-thumbnail" src="https://attachments.academia-assets.com/101970255/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424925/Epilepsy_in_mitochondrial_disorders">Epilepsy in mitochondrial disorders</a></div><div class="wp-workCard_item"><span>Seizure</span><span>, 2012</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Information about epilepsy in mitochondrial disorders is scarce although a number or syndromic an...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Information about epilepsy in mitochondrial disorders is scarce although a number or syndromic and non-syndromic mitochondrial disorders frequently manifest with focal or generalized seizures. Aim of the review was to describe epilepsy in syndromic and non-syndromic mitochondrial disorders with epilepsy as a dominant or collateral feature of the phenotype. Methods: Literature search via Pubmed using the key words ''mitochondrial'', ''epilepsy'', ''seizures'', and all acronyms of syndromic mitochondrial disorders. Results: Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or Westsyndrome was reported. Treatment of epilepsy in patients with mitochondrial disorders is not at variance from epilepsy of other causes but mitochondrion-toxicity of various antiepileptic drugs, such as valproic acid, carbamazepine etc. has to be considered to avoid severe complications or deterioration of the underlying disease. Conclusions: Epilepsy is a common phenotypic feature of syndromic as well as non-syndromic mitochondrial disorders. Treatment of epilepsy in mitochondrial disorders is not at variance from treatment of epilepsy due to other causes but mitochondrion-toxic drugs should be avoided.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="eaf31e0f9a8dc558d72a115198b9e217" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970255,"asset_id":101424925,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970255/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424925"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424925"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424925; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424925]").text(description); $(".js-view-count[data-work-id=101424925]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101424925; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101424925']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "eaf31e0f9a8dc558d72a115198b9e217" } } $('.js-work-strip[data-work-id=101424925]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101424925,"title":"Epilepsy in mitochondrial disorders","internal_url":"https://www.academia.edu/101424925/Epilepsy_in_mitochondrial_disorders","owner_id":199009938,"coauthors_can_edit":true,"owner":{"id":199009938,"first_name":"SINDA","middle_initials":null,"last_name":"ZARROUK","page_name":"ZARROUKSINDA","domain_name":"independent","created_at":"2021-07-19T09:27:58.257-07:00","display_name":"SINDA ZARROUK","url":"https://independent.academia.edu/ZARROUKSINDA"},"attachments":[{"id":101970255,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101970255/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/101970255/download_file","bulk_download_file_name":"Epilepsy_in_mitochondrial_disorders.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101970255/pdf-libre.pdf?1683533285=\u0026response-content-disposition=attachment%3B+filename%3DEpilepsy_in_mitochondrial_disorders.pdf\u0026Expires=1740573668\u0026Signature=EERKnYCXRDBecTEz~5fWbTx3n2qBVOHQN7qiSeA7~xvGbHA7r7CM-FfAWgBVyCeBABfLXL2Q2lhoMj-LbFuuPpx1Cy5Lw6nkDPErOSsRZyhPO~JHKKnSzxa7s6JRPTyfKv10IioAFpLwgJs33epbfS89QEdspVi5OyF0Fk2UJXw8RrRkZhiU8TDxnJXdo-Zh9Kw1B37sPMQw-~s3c-KVo6dmAAP3mCPw8yO4A04hEDfkrWCBgiY6S0hnZm5ZcDbGiJTqxrKlRXVAxOaR4xhN9VO9BhxEUub78-EO1A2PsJEjM-MTJr6X4ZyYKbNswnTg4pXNzmdfTmPjMpMW-Wqafw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424923"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424923/Presentation_of_adult_mitochondrial_epilepsy"><img alt="Research paper thumbnail of Presentation of adult mitochondrial epilepsy" class="work-thumbnail" src="https://attachments.academia-assets.com/101970274/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424923/Presentation_of_adult_mitochondrial_epilepsy">Presentation of adult mitochondrial epilepsy</a></div><div class="wp-workCard_item"><span>Seizure</span><span>, 2013</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Mitochondrial disorders (MIDs) frequently manifest phenotypically as epilepsy (mitochondrial epil...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Mitochondrial disorders (MIDs) frequently manifest phenotypically as epilepsy (mitochondrial epilepsy). Mitochondrial epilepsy occurs in early-onset as well as late-onset syndromic and nonsyndromic MIDs. We were interested in the types of epilepsy, the prevalence of mitochondrial epilepsy, the type and effectiveness of treatment, and in the outcome of adult MID patients with epilepsy. Methods: We retrospectively evaluated adult patients with syndromic or non-syndromic MIDs and epilepsy. MIDs were classified according to the modified Walker criteria as definite, probable, and possible. Results: Epilepsy in adult patients with a MID was classified as ''structural/metabolic'' in two-thirds of the cases and as ''genetic'' in one-third of the cases. Although all types of seizures may occur in mitochondrial epilepsy, adult patients most frequently presented with generalised tonic-clonic seizures, partial seizures, convulsive status epilepticus, or non-convulsive status epilepticus. Cerebral imaging was normal in one-third of the patients. Two-thirds of the adult patients with mitochondrial epilepsy who took antiepileptic drugs received monotherapy, one-third combination treatment. The antiepileptic drugs most frequently administered included levetiracetam, lamotrigine, valproic acid, and gabapentin. Antiepileptic drugs were usually well tolerated and the outcome favourable. Conclusions: Adult mitochondrial epilepsy appears to be less frequent than previously believed but the prevalence strongly depends on patient selection. Mitochondrial epilepsy is most frequently ''structural/ metabolic''. AEDs recommended for mitochondrial epilepsy include levetiracetam, lamotrigine, gabapentin and lacosamide. The outcome of mitochondrial epilepsy may be more favourable if mitochondrion-toxic AEDs are avoided. Only if non-mitochondrion-toxic AEDs are ineffective, mitochondrion-toxic AEDs may be used.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="444e0aa63e6e443afadfea53029c07b2" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970274,"asset_id":101424923,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970274/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424923"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424923"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424923; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424923]").text(description); $(".js-view-count[data-work-id=101424923]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101424923; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101424923']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "444e0aa63e6e443afadfea53029c07b2" } } $('.js-work-strip[data-work-id=101424923]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101424923,"title":"Presentation of adult mitochondrial epilepsy","internal_url":"https://www.academia.edu/101424923/Presentation_of_adult_mitochondrial_epilepsy","owner_id":199009938,"coauthors_can_edit":true,"owner":{"id":199009938,"first_name":"SINDA","middle_initials":null,"last_name":"ZARROUK","page_name":"ZARROUKSINDA","domain_name":"independent","created_at":"2021-07-19T09:27:58.257-07:00","display_name":"SINDA ZARROUK","url":"https://independent.academia.edu/ZARROUKSINDA"},"attachments":[{"id":101970274,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101970274/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/101970274/download_file","bulk_download_file_name":"Presentation_of_adult_mitochondrial_epil.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101970274/pdf-libre.pdf?1683533279=\u0026response-content-disposition=attachment%3B+filename%3DPresentation_of_adult_mitochondrial_epil.pdf\u0026Expires=1740573668\u0026Signature=apYhqC3Tg7zpb7H2KiFRTL80jnvhfBe6a28-H-0Wa1X4Bh0r6VvAHrtHEDf3tNq-KGQ80BBXDMB4i4sMnjsivRagTyKro4MDf3JrSja~80IT8PmoHaQ5ATh8DIe6CptIs33zkjfOSaJgxuVZNwkDP47LBnrFsJ~j-VCuwbVUgpB8xATdUhXEb8xVczy4f73tmpC7hAQBIPe0BKwwzOBvPmerlkzGpLKWD5pcf13oSdppi~Ba981OqubyYl7D14OgXYXVCs8iMLOpTclYmAbzdS-HANlRwtuRieFJe-9P-JRMf0x2hFBo6BMQo4E5DJAUBpYt3I6TqpsBqKf7hCrmFw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424921"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/101424921/Primary_mitochondrial_arteriopathy"><img alt="Research paper thumbnail of Primary mitochondrial arteriopathy" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/101424921/Primary_mitochondrial_arteriopathy">Primary mitochondrial arteriopathy</a></div><div class="wp-workCard_item"><span>Nutrition, Metabolism and Cardiovascular Diseases</span><span>, 2012</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Whether arteries are affected in mitochondrial disorders (MIDs) was under debate for years but me...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Whether arteries are affected in mitochondrial disorders (MIDs) was under debate for years but meanwhile there are strong indications that large and small arteries are primarily or secondarily affected in MIDs. When reviewing the literature for appropriate studies it turned out that vascular involvement in MIDs includes primary or secondary micro- or macroangiopathy of the cerebral, cervical, and retinal arteries, the aorta, the iliac arteries, the brachial arteries, or the muscular arteries. Arteriopathy in MIDs manifests as atherosclerosis, stenosis, occlusion, dissection, ectasia, aneurysm formation, or arteriovenous malformation. Direct evidence for primary cerebral microangiopathy comes from histological studies and indirect evidence from imaging and perfusion studies of the brain. Microangiopathy of the retina is highly prevalent in Leber&amp;#39;s hereditary optic neuropathy. Macroangiopathy of the carotid arteries may be complicated by stroke. Arteriopathy of the aorta may result in ectasia, aneurysm formation, or even rupture. Further evidence for arteriopathy in MIDs comes from the frequent association of migraine with MIDs and the occurrence of premature atherosclerosis in MID patients without classical risk factors. Mitochondrial arteriopathy most frequently concerns the cerebral arteries and may result from the underlying metabolic defect or secondary from associated vascular risk factors. Vascular involvement in MIDs has a strong impact on the prognosis and outcome of these patients.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424921"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424921"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424921; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424921]").text(description); 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dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=101424921]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101424921,"title":"Primary mitochondrial arteriopathy","internal_url":"https://www.academia.edu/101424921/Primary_mitochondrial_arteriopathy","owner_id":199009938,"coauthors_can_edit":true,"owner":{"id":199009938,"first_name":"SINDA","middle_initials":null,"last_name":"ZARROUK","page_name":"ZARROUKSINDA","domain_name":"independent","created_at":"2021-07-19T09:27:58.257-07:00","display_name":"SINDA ZARROUK","url":"https://independent.academia.edu/ZARROUKSINDA"},"attachments":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424920"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424920/Genotypic_interactions_of_renin_angiotensin_system_genes_with_diabetes_type_2_in_a_Tunisian_population"><img alt="Research paper thumbnail of Genotypic interactions of renin鈥揳ngiotensin system genes with diabetes type 2 in a Tunisian population" class="work-thumbnail" src="https://attachments.academia-assets.com/101970348/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424920/Genotypic_interactions_of_renin_angiotensin_system_genes_with_diabetes_type_2_in_a_Tunisian_population">Genotypic interactions of renin鈥揳ngiotensin system genes with diabetes type 2 in a Tunisian population</a></div><div class="wp-workCard_item"><span>Life Sciences</span><span>, 2010</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Angiotensinogen gene polymorphism Angiotensin-converting enzyme gene polymorphism Angiotensin typ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Angiotensinogen gene polymorphism Angiotensin-converting enzyme gene polymorphism Angiotensin type 1 receptor gene polymorphism Aims: To explore the role of genetic variants of angiotensinogen (AGT M235T), angiotensin-converting enzyme (ACE I/D), and angiotensin type 1 receptor (AT1R A1166C) as predictors of diabetes risk and to examine their combined effects on type 2 diabetes mellitus (T2DM) patients. Main methods: One hundred and fourteen T2DM patients were compared to 175 healthy controls with similar age and sex. Key findings: The genotypic frequencies for all three genes alone were significantly associated with increased risk of developing diabetes. Logistic regression analysis of classic coronary risk factors and the genetic polymorphisms demonstrated that hypertension and ACE DD genotype were the most significant contributors to T2DM. For the renin-angiotensin system (RAS) genes, the risk of T2DM in individuals with one risk genotype was 1.9 (95%CI: 1.1-3.0, p = 0.017) higher than those with zero risk genotype. Individuals who carried two risk genotypes had a 4.0 (95%CI 1.7-9.4, p = 0.001) times higher risk of T2DM than those who did not carry any risk genotypes of the RAS genes. Most interestingly, the risk of T2DM for individuals with three risk genotypes was 26.2 (95%CI: 5.8-117.9, p b 0.001) higher than those with zero risk genotype. Significance: The results of the present study imply that genotyping of renin-angiotensin system genes could become an important part of the clinical process of risk identification for T2DM in Tunisian population.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="2bbe2bfd74dcd574b608c33fd8012bec" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970348,"asset_id":101424920,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970348/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424920"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424920"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424920; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424920]").text(description); $(".js-view-count[data-work-id=101424920]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101424920; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101424920']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "2bbe2bfd74dcd574b608c33fd8012bec" } } $('.js-work-strip[data-work-id=101424920]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101424920,"title":"Genotypic interactions of renin鈥揳ngiotensin system genes with diabetes type 2 in a Tunisian population","internal_url":"https://www.academia.edu/101424920/Genotypic_interactions_of_renin_angiotensin_system_genes_with_diabetes_type_2_in_a_Tunisian_population","owner_id":199009938,"coauthors_can_edit":true,"owner":{"id":199009938,"first_name":"SINDA","middle_initials":null,"last_name":"ZARROUK","page_name":"ZARROUKSINDA","domain_name":"independent","created_at":"2021-07-19T09:27:58.257-07:00","display_name":"SINDA ZARROUK","url":"https://independent.academia.edu/ZARROUKSINDA"},"attachments":[{"id":101970348,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101970348/thumbnails/1.jpg","file_name":"j.lfs.2010.05.01020230508-1-dqkoem.pdf","download_url":"https://www.academia.edu/attachments/101970348/download_file","bulk_download_file_name":"Genotypic_interactions_of_renin_angioten.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101970348/j.lfs.2010.05.01020230508-1-dqkoem-libre.pdf?1683533272=\u0026response-content-disposition=attachment%3B+filename%3DGenotypic_interactions_of_renin_angioten.pdf\u0026Expires=1740573668\u0026Signature=N9SyN8DUcm1gUdd~ITImSVXJREw6jE3JhlvW0R19-~DNCC6SgsMkQWgFk7XQKcPyXkd7BgDZgKVTZkp7ybruw1PYHh~EoU5pD8BWoaPrylPiEwyotjBvKS4MkCRsFjz3fRTtsjU0Xnu7zNl9I5Glraqlbi8KVuuRI8AN9OZ~WL~NOwnx11w7lojGcmg2PVdb95~7AtOypgIKaMlS9NKpSmTaHq6I-IVct0c1TQy0CMb6y3BdRW8zi6MYoB36VgsdTRGlf4GzkRuhhEORUt0jov8ANJj5NrOcaKwEKJTFxlTUGSrHq4vGmy60ZbsjB72~flz2nxRtcsa8SsonSRkxpw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424919"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424919/Angiotensinogen_gene_polymorphism_in_acute_myocardial_infarction_patients"><img alt="Research paper thumbnail of Angiotensinogen gene polymorphism in acute myocardial infarction patients" class="work-thumbnail" src="https://attachments.academia-assets.com/101970278/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424919/Angiotensinogen_gene_polymorphism_in_acute_myocardial_infarction_patients">Angiotensinogen gene polymorphism in acute myocardial infarction patients</a></div><div class="wp-workCard_item"><span>Journal of the Renin-Angiotensin-Aldosterone System</span><span>, 2010</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Introduction. The objective of the study was to explore the role of a genetic variant of angioten...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Introduction. The objective of the study was to explore the role of a genetic variant of angiotensinogen (AGT), M235T, as an independent risk factor for acute myocardial infarction (AMI) and to investigate the possible association with the severity of coronary artery disease (CAD), estimated on the basis of the number of coronary stenoses and critical arterial occlusions. Patients and methods. 123 AMI patients were compared to 144 healthy controls. AGT genotypes were determined by PCR. Results. A significant association was found between AGT M235T polymorphism and AMI ( p = .021). By logistic regression, the TT genotype appeared to confer 1.9-fold increased risk for AMI in both the univariate and the multivariate model. The frequencies of the TT genotype and T allele increased with the number of stenoses in coronary vessels. Moreover, the TT genotype and the T allele were more frequent in the subgroup of patients with stenoses in at least four coronary vessels than in other patients...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="95a5b0759f69f0a4020264b48a41e3cf" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970278,"asset_id":101424919,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970278/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424919"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424919"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424919; 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424918"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424918/Mitochondrial_tRNA_glutamine_variant_in_hypertrophic_cardiomyopathy"><img alt="Research paper thumbnail of Mitochondrial tRNA glutamine variant in hypertrophic cardiomyopathy" class="work-thumbnail" src="https://attachments.academia-assets.com/101970254/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424918/Mitochondrial_tRNA_glutamine_variant_in_hypertrophic_cardiomyopathy">Mitochondrial tRNA glutamine variant in hypertrophic cardiomyopathy</a></div><div class="wp-workCard_item"><span>Herz</span><span>, 2013</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="d54de7f4d1759d129e34e9d608b4147b" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970254,"asset_id":101424918,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970254/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424918"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424918"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424918; 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424917"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/101424917/Increased_prevalence_of_non_compaction"><img alt="Research paper thumbnail of Increased prevalence of non-compaction" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/101424917/Increased_prevalence_of_non_compaction">Increased prevalence of non-compaction</a></div><div class="wp-workCard_item"><span>European Journal of Internal Medicine</span><span>, 2014</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424917"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424917"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424917; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424917]").text(description); $(".js-view-count[data-work-id=101424917]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101424917; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101424917']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); 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window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424945]").text(description); $(".js-view-count[data-work-id=101424945]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101424945; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101424945']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "f42487ff2ee0ab09010cb0b908e3b9ea" } } $('.js-work-strip[data-work-id=101424945]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101424945,"title":"SARS-CoV-2 infection complicated by neuro- or psycho-COVID","internal_url":"https://www.academia.edu/101424945/SARS_CoV_2_infection_complicated_by_neuro_or_psycho_COVID","owner_id":199009938,"coauthors_can_edit":true,"owner":{"id":199009938,"first_name":"SINDA","middle_initials":null,"last_name":"ZARROUK","page_name":"ZARROUKSINDA","domain_name":"independent","created_at":"2021-07-19T09:27:58.257-07:00","display_name":"SINDA ZARROUK","url":"https://independent.academia.edu/ZARROUKSINDA"},"attachments":[{"id":101970215,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101970215/thumbnails/1.jpg","file_name":"71252.pdf","download_url":"https://www.academia.edu/attachments/101970215/download_file","bulk_download_file_name":"SARS_CoV_2_infection_complicated_by_neur.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101970215/71252-libre.pdf?1683537344=\u0026response-content-disposition=attachment%3B+filename%3DSARS_CoV_2_infection_complicated_by_neur.pdf\u0026Expires=1740573668\u0026Signature=HBfKFrztD4dtvEKFBAn44VMQ2WK~4iBXm03kxlQAL1czmuIUx4Tc0MfU-gpk7SrHS6dDDeS5kasPrl9bj~GPhmmQTJ7cXfxocWYZ3fcpibsRqNDSSbc3ckW3ZFVeio7RJvpyhZ8bG078J~AewbCZMthzVZBEYWqU--dbkg56TaRqJwTaN0pGUPbs4M8dY1VrEbFymXkSnbMFmp6soORbeXu1PRl7Zfw3tv4w69WnlYyYYwLZyMsPII6Yp4D1Q9Oz-i3CVPDaHmpx7hwYWVnY7ro9Bl4r7icFV5p9b9lrz0Q81jvmhCZ8bdQrAr~tq1kbW2RvFRdkpUzp2nNy2PTb~w__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"},{"id":101970216,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101970216/thumbnails/1.jpg","file_name":"71252.pdf","download_url":"https://www.academia.edu/attachments/101970216/download_file","bulk_download_file_name":"SARS_CoV_2_infection_complicated_by_neur.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101970216/71252-libre.pdf?1683537342=\u0026response-content-disposition=attachment%3B+filename%3DSARS_CoV_2_infection_complicated_by_neur.pdf\u0026Expires=1740573668\u0026Signature=c89GnOjkSdLzUC-0QMqOOAq50ji2Ph7wtPXUkObZglBcXjK3fhJdO~HePRroJE2xMK6HbUKggBKATEbhQ8-9Yz9gbfcfizHC9JlGmWgbuCKZ3pQgtwNBSR~6sYfgxhfJUKu8cAY~tsNUteCqfmZWrVWptir0~Bb4mglKTVN6QqhIOBo1HL5QWOCzcFCg2poPASrqMM8iGjqgBtTVk71RHUb1ZTwRk-50WBVOgkwOPbxWC~G5pjYGAYBo~iVHNrixudxdnSaYsTpmXog2bW-w~QgtNw0whhoVcrg0AqCRH2ScOr6Yw7FBQEdyBcEaqP2LyIw3~7UaMrU8-PyPN0u7WA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424941"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424941/Carriers_of_POLG1_variants_require_investigations_for_multisystem_disease_and_for_mtDNA_variations"><img alt="Research paper thumbnail of Carriers of POLG1 variants require investigations for multisystem disease and for mtDNA variations" class="work-thumbnail" src="https://attachments.academia-assets.com/101970213/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424941/Carriers_of_POLG1_variants_require_investigations_for_multisystem_disease_and_for_mtDNA_variations">Carriers of POLG1 variants require investigations for multisystem disease and for mtDNA variations</a></div><div class="wp-workCard_item"><span>Neurological Research and Practice</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="dd3376562ecfa5e98a29a3a18156bb88" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970213,"asset_id":101424941,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970213/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424941"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424941"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424941; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424941]").text(description); $(".js-view-count[data-work-id=101424941]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101424941; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101424941']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "dd3376562ecfa5e98a29a3a18156bb88" } } $('.js-work-strip[data-work-id=101424941]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101424941,"title":"Carriers of POLG1 variants require investigations for multisystem disease and for mtDNA variations","internal_url":"https://www.academia.edu/101424941/Carriers_of_POLG1_variants_require_investigations_for_multisystem_disease_and_for_mtDNA_variations","owner_id":199009938,"coauthors_can_edit":true,"owner":{"id":199009938,"first_name":"SINDA","middle_initials":null,"last_name":"ZARROUK","page_name":"ZARROUKSINDA","domain_name":"independent","created_at":"2021-07-19T09:27:58.257-07:00","display_name":"SINDA ZARROUK","url":"https://independent.academia.edu/ZARROUKSINDA"},"attachments":[{"id":101970213,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101970213/thumbnails/1.jpg","file_name":"s42466-022-00195-8.pdf","download_url":"https://www.academia.edu/attachments/101970213/download_file","bulk_download_file_name":"Carriers_of_POLG1_variants_require_inves.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101970213/s42466-022-00195-8-libre.pdf?1683537345=\u0026response-content-disposition=attachment%3B+filename%3DCarriers_of_POLG1_variants_require_inves.pdf\u0026Expires=1740573668\u0026Signature=QcUhazYoKhpoNKdFkwoeNgQswofLANzLJEVm2xpvvAbxDe0OXZca2Qg8bJKXEiREsDEQcn9zL1Icnmv-4TUOld6ub5VBHF8vAPErPuiNhKLqsOKskWEGOf9H4O9xIpNWAcFmG84w4DsamIblIlTBf1ZugrE~zRzQHxvNSIm72juoRGQ~pDIduck2Ldv7MaT1nY-g4zQKXm8RErlYuWv~1qWrBPE4Q9u8IYbql6NXXvJM~jGc49rMXoZ6t8hxo53CkFy7JzgCfWZOardS3~SrO8n1ICZWbSYRemndShT6~aTwPqaruxiROgdq1U5Kv-iDKtX1TpVFZXkQoqlrlHlLdQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424939"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424939/Post_SARS_CoV_2_vaccination_venous_sinus_thrombosis_a_literature_review_of_308_cases"><img alt="Research paper thumbnail of Post-SARS-CoV-2 vaccination venous sinus thrombosis: a literature review of 308 cases" class="work-thumbnail" src="https://attachments.academia-assets.com/101970212/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424939/Post_SARS_CoV_2_vaccination_venous_sinus_thrombosis_a_literature_review_of_308_cases">Post-SARS-CoV-2 vaccination venous sinus thrombosis: a literature review of 308 cases</a></div><div class="wp-workCard_item"><span>The Egyptian Journal of Neurology, Psychiatry and Neurosurgery</span><span>, 2021</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">There is accumulating evidence that SARS-CoV-2 vaccinations can be complicated by venous sinus th...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">There is accumulating evidence that SARS-CoV-2 vaccinations can be complicated by venous sinus thrombosis (VST). This review aimed at summarising and discussing previous and recent advances regarding the diagnosis, pathogenesis, treatment, and outcome of post-SARS-CoV-2 vaccination VST. At least 308 patients with post-SARS-CoV-2 vaccination VST have been reported as per the end of July 2021. Ages among these 308 patients ranged between 22 and 81聽years, 69 were male and 197 were female. Post-SARS-CoV-2 vaccination VST most commonly occurred with the ChAdOx1-S vaccine followed by the BNT126b2 vaccine. In the vast majority of cases, VST occurred after the first dose. Only in six patients did VST occur after the second dose. Latency between vaccination and onset of VST ranged between 0 and 24聽days. Regarding treatment, most patients received heparin followed by oral anticoagulants. Seven patients received IVIGs and six patients received steroids because of concomitant vaccine-induced im...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="146ad70f73b3dcbede425faa59b83cff" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970212,"asset_id":101424939,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970212/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424939"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424939"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424939; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424939]").text(description); $(".js-view-count[data-work-id=101424939]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101424939; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101424939']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "146ad70f73b3dcbede425faa59b83cff" } } $('.js-work-strip[data-work-id=101424939]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101424939,"title":"Post-SARS-CoV-2 vaccination venous sinus thrombosis: a literature review of 308 cases","internal_url":"https://www.academia.edu/101424939/Post_SARS_CoV_2_vaccination_venous_sinus_thrombosis_a_literature_review_of_308_cases","owner_id":199009938,"coauthors_can_edit":true,"owner":{"id":199009938,"first_name":"SINDA","middle_initials":null,"last_name":"ZARROUK","page_name":"ZARROUKSINDA","domain_name":"independent","created_at":"2021-07-19T09:27:58.257-07:00","display_name":"SINDA ZARROUK","url":"https://independent.academia.edu/ZARROUKSINDA"},"attachments":[{"id":101970212,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101970212/thumbnails/1.jpg","file_name":"s41983-021-00431-z.pdf","download_url":"https://www.academia.edu/attachments/101970212/download_file","bulk_download_file_name":"Post_SARS_CoV_2_vaccination_venous_sinus.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101970212/s41983-021-00431-z-libre.pdf?1683537346=\u0026response-content-disposition=attachment%3B+filename%3DPost_SARS_CoV_2_vaccination_venous_sinus.pdf\u0026Expires=1740573668\u0026Signature=YCriHxA4POd~7W2vbL9FGpytX5zZ0aVl5v1r6lA8PQydBoKutLZ5zxC5fDqmz8HsiYp02ab7FinO7t7yVeHJrgYZDPNeTovjQr1ypJ4tDDDJHG~0kjUnqlKf6DjH3Na8gDEgPo8ZTzPxzdWhH2IIyGVfxgkMuFKMjul4Ic1GkpxumCXwp3zgR7bxPi18No596Gkg-y2f2DVQ95f97gbEOykKcB0rGLn37K6ZSn~KZcs0AUr0714bKvtOxC65r3QQUeYtTGEC3vmq~FEn~lq2rs0yyJ7CmaA2vMyWBbljdBJSco63dqo752hxd5UAzid6LXPMW8u7uqJw6ozGCK8w4g__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"},{"id":101970211,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101970211/thumbnails/1.jpg","file_name":"s41983-021-00431-z.pdf","download_url":"https://www.academia.edu/attachments/101970211/download_file","bulk_download_file_name":"Post_SARS_CoV_2_vaccination_venous_sinus.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101970211/s41983-021-00431-z-libre.pdf?1683537349=\u0026response-content-disposition=attachment%3B+filename%3DPost_SARS_CoV_2_vaccination_venous_sinus.pdf\u0026Expires=1740573668\u0026Signature=FTDIC7OyqxIO8y35RjNcy1IfTro2DNohr2diDbHJVCK0y2KKnIREg2RlFBlD5nMOymqoArGZ0Hl4qa3e5yDuM3rcpzte-TDhHa548E1owh2Mi077VmBLUk2P80P3JTr9VS4qA2LTKpYUx8jRis9eQakE87TVmL03pN1fLwPPHs3GAmgDp6laWl~tL1AYRSDV-wHcbVKcFbO~FQ3EIswVkYtA-E1vq3Bo8Wm23jiSpilNed0UvwF7GvI8weCvENPn21VmnuWnKM8nDPdg2Cw-Vq80P0fiq8b64tFPoEQs85regplzEulKfCurEbTcxfUOXs00Ug-St71CrSe~5bT9Dw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424937"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424937/Fatigue_and_Exercise_Intolerance_as_Initial_Manifestations_of_a_Nonsyndromic_Mitochondrial_Disorder_Due_to_the_Variant_m_3243A_G"><img alt="Research paper thumbnail of Fatigue and Exercise Intolerance as Initial Manifestations of a Nonsyndromic Mitochondrial Disorder Due to the Variant m.3243A>G" class="work-thumbnail" src="https://attachments.academia-assets.com/101970209/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424937/Fatigue_and_Exercise_Intolerance_as_Initial_Manifestations_of_a_Nonsyndromic_Mitochondrial_Disorder_Due_to_the_Variant_m_3243A_G">Fatigue and Exercise Intolerance as Initial Manifestations of a Nonsyndromic Mitochondrial Disorder Due to the Variant m.3243A>G</a></div><div class="wp-workCard_item"><span>Case Reports in Neurological Medicine</span><span>, 2022</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Objectives. Fatigue and exercise intolerance have been only rarely reported as initial- and sole-...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Objectives. Fatigue and exercise intolerance have been only rarely reported as initial- and sole-onset manifestations of a mitochondrial disorder (MID). We present a patient with nonsyndromic MID with fatigue and exercise intolerance as its initial manifestations of the disease. Case Report. A 39鈥墆o female experienced fatigue since age 18 and exercise intolerance since age 21. Later on, she developed Hashimoto thyroiditis, recurrent diffuse headache, and double vision upon exercise. Clinical exam revealed short stature, bilateral ptosis, partially reduced tendon reflexes, and hypertrophic calves. Serum lactate was elevated, and the lactate stress test was abnormal. Workup for suspected MID revealed ragged-red fibers and NADH-deficient muscle fibers, and biochemical investigations revealed a mild complex-I defect. mtDNA sequencing revealed the variant m.3243A&gt;G with a heteroplasmy rate of 70% in the muscle. Conclusions. This case shows that the initial manifestation of a MID can b...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="709273efacd6079874576387451d7232" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970209,"asset_id":101424937,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970209/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424937"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424937"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424937; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424937]").text(description); $(".js-view-count[data-work-id=101424937]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101424937; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101424937']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "709273efacd6079874576387451d7232" } } $('.js-work-strip[data-work-id=101424937]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101424937,"title":"Fatigue and Exercise Intolerance as Initial Manifestations of a Nonsyndromic Mitochondrial Disorder Due to the Variant m.3243A\u003eG","internal_url":"https://www.academia.edu/101424937/Fatigue_and_Exercise_Intolerance_as_Initial_Manifestations_of_a_Nonsyndromic_Mitochondrial_Disorder_Due_to_the_Variant_m_3243A_G","owner_id":199009938,"coauthors_can_edit":true,"owner":{"id":199009938,"first_name":"SINDA","middle_initials":null,"last_name":"ZARROUK","page_name":"ZARROUKSINDA","domain_name":"independent","created_at":"2021-07-19T09:27:58.257-07:00","display_name":"SINDA ZARROUK","url":"https://independent.academia.edu/ZARROUKSINDA"},"attachments":[{"id":101970209,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101970209/thumbnails/1.jpg","file_name":"7846852.pdf","download_url":"https://www.academia.edu/attachments/101970209/download_file","bulk_download_file_name":"Fatigue_and_Exercise_Intolerance_as_Init.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101970209/7846852-libre.pdf?1683537347=\u0026response-content-disposition=attachment%3B+filename%3DFatigue_and_Exercise_Intolerance_as_Init.pdf\u0026Expires=1740573668\u0026Signature=OY6i5s8PzzWK1eCxY3Dyaf4yNq~rJfQeFseA7nbYLCzfYj1QSRzLjt0ybseFxbXIUyIsANJLGU2LSYpoH0pCWt86sx-2IiMetF8F4V1bM9CY3UN0Lp4pU7WSU2nDsh0DlhOZ6JdD2z8fhOPAj92FLUxLZ9faDbcVstoaF68j~yi9YyCmQVJpsDEhpyYgiKCTnxrC1AfjqCsZM2qJyZfl84K~aAV6Wed3Q4fK2mMgc7~CHUky0thKVn1iSJGTfqrQQHz0AszgSAAjs7S877095ACtheQji1Ea-LdACAcQ2EDmIwwux7FiQr1g2HShpRgvsCH8J4iRjiNHL5KXclFwXg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424935"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424935/Dilated_Cardiomyopathy_due_to_the_Novel_MT_CYB_Missense_Mutation_m_14757T_C"><img alt="Research paper thumbnail of Dilated Cardiomyopathy due to the Novel MT-CYB Missense Mutation m.14757T>C" class="work-thumbnail" src="https://attachments.academia-assets.com/101970207/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424935/Dilated_Cardiomyopathy_due_to_the_Novel_MT_CYB_Missense_Mutation_m_14757T_C">Dilated Cardiomyopathy due to the Novel MT-CYB Missense Mutation m.14757T>C</a></div><div class="wp-workCard_item"><span>Journal of Medical Cases</span><span>, 2021</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Mitochondrial DNA (mtDNA) mutations frequently manifest with multisystem disease, including cardi...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Mitochondrial DNA (mtDNA) mutations frequently manifest with multisystem disease, including cardiomyopathy (CM). Various studies described mutations in protein-encoding mtDNA genes, such as cytochrome-b, manifesting with CM. A detailed clinical, biochemical, and molecular genetic analysis was performed in a 40-year-old male with dilated CM (DCM) to detect the underlying mtDNA defect. Muscle biopsy showed complex-III deficiency, and sequencing of the cytochrome-b gene revealed the pathogenic variant m.14757T>C in MT-CYB, resulting in the replacement of the hydrophobic methionine by the polar threonine (M4T). By application of the PolyPhen algorithm the variant was predicted as pathogenic. The mutation was not found in 100 healthy controls and never reported as a neutral polymorphism despite extensive sequencing of the cytochrome-b gene in 2,704 normal healthy controls from different ethnic backgrounds. In conclusion, the novel variant m.14757T>C in MT-CYB is associated with DCM suggesting a pathophysiologic role of the variant in the development of DCM.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="54ebbf522413fa76c5c66a2c155857aa" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970207,"asset_id":101424935,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970207/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424935"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424935"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424935; 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424934"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424934/Sinus_venous_thrombosis_as_a_complication_of_COVID_19_associated_hypercoagulability"><img alt="Research paper thumbnail of Sinus venous thrombosis as a complication of COVID-19-associated hypercoagulability" class="work-thumbnail" src="https://attachments.academia-assets.com/101970204/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424934/Sinus_venous_thrombosis_as_a_complication_of_COVID_19_associated_hypercoagulability">Sinus venous thrombosis as a complication of COVID-19-associated hypercoagulability</a></div><div class="wp-workCard_item"><span>The Egyptian Journal of Neurology, Psychiatry and Neurosurgery</span><span>, 2021</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Sinus venous thrombosis (SVT) is an increasingly recognised complication of not only SARS-CoV-2 i...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Sinus venous thrombosis (SVT) is an increasingly recognised complication of not only SARS-CoV-2 infections, but also of SARS-CoV-2 vaccinations. SVT is attributed to hypercoagulability, a common complication of COVID-19, disregarding the severity of the infection. Hypercoagulability in COVID-19 is explained by direct activation of platelets, enhancing coagulation, by direct infection and indirect activation of endothelial cells by SARS-CoV-2, shifting endothelial cells from an anti-thrombotic to a pro-thrombotic state, by direct activation of complement pathways, promoting thrombin generation, or by immune thrombocytopenia, which also generates a thrombogenic state. Since SVT may occur even in anticoagulated COVID-19 patients and may have an unfavourable outcome, all efforts must be made to prevent this complication or to treat it accurately.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="5dcbbd366d8a79ac18e4408df1982b6c" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970204,"asset_id":101424934,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970204/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424934"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424934"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424934; 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424933"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424933/Pay_attention_to_the_skeletal_muscles_in_left_ventricular_hypertrabeculation_noncompaction"><img alt="Research paper thumbnail of Pay attention to the skeletal muscles in left ventricular hypertrabeculation / noncompaction" class="work-thumbnail" src="https://attachments.academia-assets.com/101970202/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424933/Pay_attention_to_the_skeletal_muscles_in_left_ventricular_hypertrabeculation_noncompaction">Pay attention to the skeletal muscles in left ventricular hypertrabeculation / noncompaction</a></div><div class="wp-workCard_item"><span>Polish Archives of Internal Medicine</span><span>, 2015</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">EDITOR Pay attention to the skeletal muscles in left ventricular hypertrabeculation / noncompacti...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">EDITOR Pay attention to the skeletal muscles in left ventricular hypertrabeculation / noncompaction 213 implantable-cardioverter defibrillator (ICD). 1 What was the cause of sudden cardiac death in this particular patient? Did the ICD ever discharged after implantation? Did the patient adhere sufficiently to the medication prescribed? Were the histological findings interpreted as myocardial infarction? Did the histological workup of the myocardium indicate histiocytoid cardiomyopathy, which is particularly frequent in patients with metabolic myopathy? Since LVHT is frequently associated with NMDs, the authors should mention if there was any clinical evidence that the patient suffered from a subclinical muscle disease. Did the patient report muscle cramps, easy fatigability, muscle stiffness, or muscle weakness? Did the patient complain about double vision or hearing impairment? Was the history positive for creatine kinase elevation, episodes of rhabdomyolysis, or malignant hyperthermia? Was lactate ever measured and was it elevated at rest or during mild exercise? Were any of the family members suffering from clinical or subclinical NMD? Overall, this interesting presentation could benefit from providing more clinical details and from more thorough investigations of a possible myopathic background. Additionally, the discrepancy between left ventricular hypertrophy on autopsy and normal myocardial thickness on echocardiography needs to be resolved.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="3f8e1fede2804ec3371b22343f35a0e5" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970202,"asset_id":101424933,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970202/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424933"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424933"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424933; 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424929"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/101424929/Mitochondrial_toxicity_of_cardiac_drugs_and_its_relevance_to_mitochondrial_disorders"><img alt="Research paper thumbnail of Mitochondrial toxicity of cardiac drugs and its relevance to mitochondrial disorders" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/101424929/Mitochondrial_toxicity_of_cardiac_drugs_and_its_relevance_to_mitochondrial_disorders">Mitochondrial toxicity of cardiac drugs and its relevance to mitochondrial disorders</a></div><div class="wp-workCard_item"><span>Expert opinion on drug metabolism & toxicology</span><span>, 2015</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">One target of toxicity caused by cardiac drugs is the mitochondrion. This review focuses on the m...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">One target of toxicity caused by cardiac drugs is the mitochondrion. This review focuses on the mitochondrion-toxic effects of cardiac drugs and the extent to which mitochondrion-mediated side effects influence the treatment of cardiac disease in mitochondrial disorders (MIDs). Areas discussed in this review include the pathogenesis of mitochondrion toxicity and the mechanisms by which cardiac drugs exhibit their mitochondrion-toxic effect. Whenever available, the mitochondrion-toxic effect of cardiac drugs in patients with a MID is highlighted. Most of the drugs used in cardiology are somewhat mitochondrion-toxic. The degree of toxicity, however, is variable and dependent on the type of drug, tissue, organ, subject, cell system investigated, the co-medication, and the conditions under which the investigations have been carried out. Abnormalities induced by mitochondrion-toxic cardiac drugs include impairment of respiratory chain functions resulting in reduced ATP production, increa...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424929"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424929"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424929; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424929]").text(description); $(".js-view-count[data-work-id=101424929]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101424929; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101424929']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=101424929]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101424929,"title":"Mitochondrial toxicity of cardiac drugs and its relevance to mitochondrial disorders","internal_url":"https://www.academia.edu/101424929/Mitochondrial_toxicity_of_cardiac_drugs_and_its_relevance_to_mitochondrial_disorders","owner_id":199009938,"coauthors_can_edit":true,"owner":{"id":199009938,"first_name":"SINDA","middle_initials":null,"last_name":"ZARROUK","page_name":"ZARROUKSINDA","domain_name":"independent","created_at":"2021-07-19T09:27:58.257-07:00","display_name":"SINDA ZARROUK","url":"https://independent.academia.edu/ZARROUKSINDA"},"attachments":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424928"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424928/Novel_m_15434C_A_p_230L_I_Mitochondrial_Cytb_Gene_Missense_Mutation_Associated_with_Dilated_Cardiomyopathy"><img alt="Research paper thumbnail of Novel m.15434C>A (p.230L>I) Mitochondrial Cytb Gene Missense Mutation Associated with Dilated Cardiomyopathy" class="work-thumbnail" src="https://attachments.academia-assets.com/101970201/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424928/Novel_m_15434C_A_p_230L_I_Mitochondrial_Cytb_Gene_Missense_Mutation_Associated_with_Dilated_Cardiomyopathy">Novel m.15434C>A (p.230L>I) Mitochondrial Cytb Gene Missense Mutation Associated with Dilated Cardiomyopathy</a></div><div class="wp-workCard_item"><span>ISRN Cardiology</span><span>, 2012</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Background. Previously it has been shown that various types of hypertrophic and dilative cardiomy...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Background. Previously it has been shown that various types of hypertrophic and dilative cardiomyopathy (hCMP, dCMP) can be attributed to disturbed mitochondrial oxidative energy metabolism. Several studies described mutations in mitochondrial DNA-located genes encoding for subunits of respiratory chain complexes, including the cytochrome b gene (MT-CYB), causing CMPs.Methods and Results. In the present study the MT-CYB gene was analysed in 30 patients with hCMP, 40 patients with dCMP, and 50 controls for alterations. Altogether, 27 MT-CYB variants were detected. Twenty-four of them were single nucleotide polymorphisms defining common haplogroups. The variant m.15434C&gt;A was found in a single patient with severe dCMP and assessed as novel mutation, since it was not found in healthy controls or available data sets, and was nonhaplogroup associated with Phylotree. This variant altered an amino acid (L230I) with a high interspecific amino acid conservation index (CI=97.7%) indicative...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="3777fc57f70d2e5e9e5ff7d692248d3d" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970201,"asset_id":101424928,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970201/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424928"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424928"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424928; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424928]").text(description); $(".js-view-count[data-work-id=101424928]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101424928; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101424928']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "3777fc57f70d2e5e9e5ff7d692248d3d" } } $('.js-work-strip[data-work-id=101424928]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101424928,"title":"Novel m.15434C\u003eA (p.230L\u003eI) Mitochondrial Cytb Gene Missense Mutation Associated with Dilated Cardiomyopathy","internal_url":"https://www.academia.edu/101424928/Novel_m_15434C_A_p_230L_I_Mitochondrial_Cytb_Gene_Missense_Mutation_Associated_with_Dilated_Cardiomyopathy","owner_id":199009938,"coauthors_can_edit":true,"owner":{"id":199009938,"first_name":"SINDA","middle_initials":null,"last_name":"ZARROUK","page_name":"ZARROUKSINDA","domain_name":"independent","created_at":"2021-07-19T09:27:58.257-07:00","display_name":"SINDA ZARROUK","url":"https://independent.academia.edu/ZARROUKSINDA"},"attachments":[{"id":101970201,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101970201/thumbnails/1.jpg","file_name":"251723.pdf","download_url":"https://www.academia.edu/attachments/101970201/download_file","bulk_download_file_name":"Novel_m_15434C_A_p_230L_I_Mitochondrial.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101970201/251723-libre.pdf?1683537354=\u0026response-content-disposition=attachment%3B+filename%3DNovel_m_15434C_A_p_230L_I_Mitochondrial.pdf\u0026Expires=1740573668\u0026Signature=DfQIeBmi~8FPkpTsSeK~6l5oHWIBjhNvvtO60T607Cx9qN-F54mQ76jxoYXf77RF7u3YScpW5I57MbA-9KJvdVHuBlonPhbF--P5GYbDjSL9AaitSDKR6j9TzvOOuR4y8--b9-D9LbC9pMRb1DPSByqrt5yXOTnP61r85LpBr9z2N-hdT85sQMyDoEs7WC5zpTz8B1OSVJizE8ItxrZKxI~OyU2qZeNkwR02a42X2~jS3KJjcEr6hpWy3ptN4P1Qdp026UZrXvzPT2Wc47OCfWsFAoPf~9vPrdnYXsiLtv9x8eQtuZUCk3ivbgqo4scplj7PPKcSUZcJf2dN1c3hBg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"},{"id":101970200,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101970200/thumbnails/1.jpg","file_name":"251723.pdf","download_url":"https://www.academia.edu/attachments/101970200/download_file","bulk_download_file_name":"Novel_m_15434C_A_p_230L_I_Mitochondrial.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101970200/251723-libre.pdf?1683537350=\u0026response-content-disposition=attachment%3B+filename%3DNovel_m_15434C_A_p_230L_I_Mitochondrial.pdf\u0026Expires=1740573668\u0026Signature=Ui6F7KIiGaqWFxkq06~rhTgfv0vdtZyrByJh7aee0F51quYSZwJNOiA51H5FATEfCPP7BVp8XcZ7pseB3~O6I4RlBGFZ7APJWuR1RwGbf27xALMsS~LUsWiV3hvdl9s~BoXXD2Ah-gmiys8~U5hQUptbKA0kynN6Od9xolVI5IVC8eyE0a9yGuna8AbtewMnto8R0tPSZ6-lNWLYY5Ft3pX3PGcUBlezazA7SMM5x-p6W79HP5wzTcLUOQ4tbO5499mfWUT1949zVlOWUFWSzt43ryFaOpbHXwKgjueEbVEndxGD5D~EFr87ZN-C~4b7U3oyUhMORdHkU0oFV8C38A__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424926"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424926/Epilepsy_and_noncompaction"><img alt="Research paper thumbnail of Epilepsy and noncompaction" class="work-thumbnail" src="https://attachments.academia-assets.com/101970264/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424926/Epilepsy_and_noncompaction">Epilepsy and noncompaction</a></div><div class="wp-workCard_item"><span>Netherlands Heart Journal</span><span>, 2013</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="99158bc412673e0292328142da8b4d8b" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970264,"asset_id":101424926,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970264/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424926"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424926"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424926; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424926]").text(description); $(".js-view-count[data-work-id=101424926]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101424926; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101424926']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424925"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424925/Epilepsy_in_mitochondrial_disorders"><img alt="Research paper thumbnail of Epilepsy in mitochondrial disorders" class="work-thumbnail" src="https://attachments.academia-assets.com/101970255/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424925/Epilepsy_in_mitochondrial_disorders">Epilepsy in mitochondrial disorders</a></div><div class="wp-workCard_item"><span>Seizure</span><span>, 2012</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Information about epilepsy in mitochondrial disorders is scarce although a number or syndromic an...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Information about epilepsy in mitochondrial disorders is scarce although a number or syndromic and non-syndromic mitochondrial disorders frequently manifest with focal or generalized seizures. Aim of the review was to describe epilepsy in syndromic and non-syndromic mitochondrial disorders with epilepsy as a dominant or collateral feature of the phenotype. Methods: Literature search via Pubmed using the key words ''mitochondrial'', ''epilepsy'', ''seizures'', and all acronyms of syndromic mitochondrial disorders. Results: Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or Westsyndrome was reported. Treatment of epilepsy in patients with mitochondrial disorders is not at variance from epilepsy of other causes but mitochondrion-toxicity of various antiepileptic drugs, such as valproic acid, carbamazepine etc. has to be considered to avoid severe complications or deterioration of the underlying disease. Conclusions: Epilepsy is a common phenotypic feature of syndromic as well as non-syndromic mitochondrial disorders. Treatment of epilepsy in mitochondrial disorders is not at variance from treatment of epilepsy due to other causes but mitochondrion-toxic drugs should be avoided.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="eaf31e0f9a8dc558d72a115198b9e217" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970255,"asset_id":101424925,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970255/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424925"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424925"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424925; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424925]").text(description); $(".js-view-count[data-work-id=101424925]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101424925; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101424925']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "eaf31e0f9a8dc558d72a115198b9e217" } } $('.js-work-strip[data-work-id=101424925]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101424925,"title":"Epilepsy in mitochondrial disorders","internal_url":"https://www.academia.edu/101424925/Epilepsy_in_mitochondrial_disorders","owner_id":199009938,"coauthors_can_edit":true,"owner":{"id":199009938,"first_name":"SINDA","middle_initials":null,"last_name":"ZARROUK","page_name":"ZARROUKSINDA","domain_name":"independent","created_at":"2021-07-19T09:27:58.257-07:00","display_name":"SINDA ZARROUK","url":"https://independent.academia.edu/ZARROUKSINDA"},"attachments":[{"id":101970255,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101970255/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/101970255/download_file","bulk_download_file_name":"Epilepsy_in_mitochondrial_disorders.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101970255/pdf-libre.pdf?1683533285=\u0026response-content-disposition=attachment%3B+filename%3DEpilepsy_in_mitochondrial_disorders.pdf\u0026Expires=1740573668\u0026Signature=EERKnYCXRDBecTEz~5fWbTx3n2qBVOHQN7qiSeA7~xvGbHA7r7CM-FfAWgBVyCeBABfLXL2Q2lhoMj-LbFuuPpx1Cy5Lw6nkDPErOSsRZyhPO~JHKKnSzxa7s6JRPTyfKv10IioAFpLwgJs33epbfS89QEdspVi5OyF0Fk2UJXw8RrRkZhiU8TDxnJXdo-Zh9Kw1B37sPMQw-~s3c-KVo6dmAAP3mCPw8yO4A04hEDfkrWCBgiY6S0hnZm5ZcDbGiJTqxrKlRXVAxOaR4xhN9VO9BhxEUub78-EO1A2PsJEjM-MTJr6X4ZyYKbNswnTg4pXNzmdfTmPjMpMW-Wqafw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424923"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424923/Presentation_of_adult_mitochondrial_epilepsy"><img alt="Research paper thumbnail of Presentation of adult mitochondrial epilepsy" class="work-thumbnail" src="https://attachments.academia-assets.com/101970274/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424923/Presentation_of_adult_mitochondrial_epilepsy">Presentation of adult mitochondrial epilepsy</a></div><div class="wp-workCard_item"><span>Seizure</span><span>, 2013</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Mitochondrial disorders (MIDs) frequently manifest phenotypically as epilepsy (mitochondrial epil...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Mitochondrial disorders (MIDs) frequently manifest phenotypically as epilepsy (mitochondrial epilepsy). Mitochondrial epilepsy occurs in early-onset as well as late-onset syndromic and nonsyndromic MIDs. We were interested in the types of epilepsy, the prevalence of mitochondrial epilepsy, the type and effectiveness of treatment, and in the outcome of adult MID patients with epilepsy. Methods: We retrospectively evaluated adult patients with syndromic or non-syndromic MIDs and epilepsy. MIDs were classified according to the modified Walker criteria as definite, probable, and possible. Results: Epilepsy in adult patients with a MID was classified as ''structural/metabolic'' in two-thirds of the cases and as ''genetic'' in one-third of the cases. Although all types of seizures may occur in mitochondrial epilepsy, adult patients most frequently presented with generalised tonic-clonic seizures, partial seizures, convulsive status epilepticus, or non-convulsive status epilepticus. Cerebral imaging was normal in one-third of the patients. Two-thirds of the adult patients with mitochondrial epilepsy who took antiepileptic drugs received monotherapy, one-third combination treatment. The antiepileptic drugs most frequently administered included levetiracetam, lamotrigine, valproic acid, and gabapentin. Antiepileptic drugs were usually well tolerated and the outcome favourable. Conclusions: Adult mitochondrial epilepsy appears to be less frequent than previously believed but the prevalence strongly depends on patient selection. Mitochondrial epilepsy is most frequently ''structural/ metabolic''. AEDs recommended for mitochondrial epilepsy include levetiracetam, lamotrigine, gabapentin and lacosamide. The outcome of mitochondrial epilepsy may be more favourable if mitochondrion-toxic AEDs are avoided. Only if non-mitochondrion-toxic AEDs are ineffective, mitochondrion-toxic AEDs may be used.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="444e0aa63e6e443afadfea53029c07b2" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970274,"asset_id":101424923,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970274/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424923"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424923"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424923; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424923]").text(description); $(".js-view-count[data-work-id=101424923]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101424923; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101424923']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "444e0aa63e6e443afadfea53029c07b2" } } $('.js-work-strip[data-work-id=101424923]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101424923,"title":"Presentation of adult mitochondrial epilepsy","internal_url":"https://www.academia.edu/101424923/Presentation_of_adult_mitochondrial_epilepsy","owner_id":199009938,"coauthors_can_edit":true,"owner":{"id":199009938,"first_name":"SINDA","middle_initials":null,"last_name":"ZARROUK","page_name":"ZARROUKSINDA","domain_name":"independent","created_at":"2021-07-19T09:27:58.257-07:00","display_name":"SINDA ZARROUK","url":"https://independent.academia.edu/ZARROUKSINDA"},"attachments":[{"id":101970274,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101970274/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/101970274/download_file","bulk_download_file_name":"Presentation_of_adult_mitochondrial_epil.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101970274/pdf-libre.pdf?1683533279=\u0026response-content-disposition=attachment%3B+filename%3DPresentation_of_adult_mitochondrial_epil.pdf\u0026Expires=1740573668\u0026Signature=apYhqC3Tg7zpb7H2KiFRTL80jnvhfBe6a28-H-0Wa1X4Bh0r6VvAHrtHEDf3tNq-KGQ80BBXDMB4i4sMnjsivRagTyKro4MDf3JrSja~80IT8PmoHaQ5ATh8DIe6CptIs33zkjfOSaJgxuVZNwkDP47LBnrFsJ~j-VCuwbVUgpB8xATdUhXEb8xVczy4f73tmpC7hAQBIPe0BKwwzOBvPmerlkzGpLKWD5pcf13oSdppi~Ba981OqubyYl7D14OgXYXVCs8iMLOpTclYmAbzdS-HANlRwtuRieFJe-9P-JRMf0x2hFBo6BMQo4E5DJAUBpYt3I6TqpsBqKf7hCrmFw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424921"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/101424921/Primary_mitochondrial_arteriopathy"><img alt="Research paper thumbnail of Primary mitochondrial arteriopathy" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/101424921/Primary_mitochondrial_arteriopathy">Primary mitochondrial arteriopathy</a></div><div class="wp-workCard_item"><span>Nutrition, Metabolism and Cardiovascular Diseases</span><span>, 2012</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Whether arteries are affected in mitochondrial disorders (MIDs) was under debate for years but me...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Whether arteries are affected in mitochondrial disorders (MIDs) was under debate for years but meanwhile there are strong indications that large and small arteries are primarily or secondarily affected in MIDs. When reviewing the literature for appropriate studies it turned out that vascular involvement in MIDs includes primary or secondary micro- or macroangiopathy of the cerebral, cervical, and retinal arteries, the aorta, the iliac arteries, the brachial arteries, or the muscular arteries. Arteriopathy in MIDs manifests as atherosclerosis, stenosis, occlusion, dissection, ectasia, aneurysm formation, or arteriovenous malformation. Direct evidence for primary cerebral microangiopathy comes from histological studies and indirect evidence from imaging and perfusion studies of the brain. Microangiopathy of the retina is highly prevalent in Leber&amp;#39;s hereditary optic neuropathy. Macroangiopathy of the carotid arteries may be complicated by stroke. Arteriopathy of the aorta may result in ectasia, aneurysm formation, or even rupture. Further evidence for arteriopathy in MIDs comes from the frequent association of migraine with MIDs and the occurrence of premature atherosclerosis in MID patients without classical risk factors. Mitochondrial arteriopathy most frequently concerns the cerebral arteries and may result from the underlying metabolic defect or secondary from associated vascular risk factors. Vascular involvement in MIDs has a strong impact on the prognosis and outcome of these patients.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424921"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424921"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424921; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424921]").text(description); 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dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=101424921]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101424921,"title":"Primary mitochondrial arteriopathy","internal_url":"https://www.academia.edu/101424921/Primary_mitochondrial_arteriopathy","owner_id":199009938,"coauthors_can_edit":true,"owner":{"id":199009938,"first_name":"SINDA","middle_initials":null,"last_name":"ZARROUK","page_name":"ZARROUKSINDA","domain_name":"independent","created_at":"2021-07-19T09:27:58.257-07:00","display_name":"SINDA ZARROUK","url":"https://independent.academia.edu/ZARROUKSINDA"},"attachments":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424920"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424920/Genotypic_interactions_of_renin_angiotensin_system_genes_with_diabetes_type_2_in_a_Tunisian_population"><img alt="Research paper thumbnail of Genotypic interactions of renin鈥揳ngiotensin system genes with diabetes type 2 in a Tunisian population" class="work-thumbnail" src="https://attachments.academia-assets.com/101970348/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424920/Genotypic_interactions_of_renin_angiotensin_system_genes_with_diabetes_type_2_in_a_Tunisian_population">Genotypic interactions of renin鈥揳ngiotensin system genes with diabetes type 2 in a Tunisian population</a></div><div class="wp-workCard_item"><span>Life Sciences</span><span>, 2010</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Angiotensinogen gene polymorphism Angiotensin-converting enzyme gene polymorphism Angiotensin typ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Angiotensinogen gene polymorphism Angiotensin-converting enzyme gene polymorphism Angiotensin type 1 receptor gene polymorphism Aims: To explore the role of genetic variants of angiotensinogen (AGT M235T), angiotensin-converting enzyme (ACE I/D), and angiotensin type 1 receptor (AT1R A1166C) as predictors of diabetes risk and to examine their combined effects on type 2 diabetes mellitus (T2DM) patients. Main methods: One hundred and fourteen T2DM patients were compared to 175 healthy controls with similar age and sex. Key findings: The genotypic frequencies for all three genes alone were significantly associated with increased risk of developing diabetes. Logistic regression analysis of classic coronary risk factors and the genetic polymorphisms demonstrated that hypertension and ACE DD genotype were the most significant contributors to T2DM. For the renin-angiotensin system (RAS) genes, the risk of T2DM in individuals with one risk genotype was 1.9 (95%CI: 1.1-3.0, p = 0.017) higher than those with zero risk genotype. Individuals who carried two risk genotypes had a 4.0 (95%CI 1.7-9.4, p = 0.001) times higher risk of T2DM than those who did not carry any risk genotypes of the RAS genes. Most interestingly, the risk of T2DM for individuals with three risk genotypes was 26.2 (95%CI: 5.8-117.9, p b 0.001) higher than those with zero risk genotype. Significance: The results of the present study imply that genotyping of renin-angiotensin system genes could become an important part of the clinical process of risk identification for T2DM in Tunisian population.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="2bbe2bfd74dcd574b608c33fd8012bec" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970348,"asset_id":101424920,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970348/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424920"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424920"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424920; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101424920]").text(description); $(".js-view-count[data-work-id=101424920]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101424920; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101424920']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "2bbe2bfd74dcd574b608c33fd8012bec" } } $('.js-work-strip[data-work-id=101424920]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101424920,"title":"Genotypic interactions of renin鈥揳ngiotensin system genes with diabetes type 2 in a Tunisian population","internal_url":"https://www.academia.edu/101424920/Genotypic_interactions_of_renin_angiotensin_system_genes_with_diabetes_type_2_in_a_Tunisian_population","owner_id":199009938,"coauthors_can_edit":true,"owner":{"id":199009938,"first_name":"SINDA","middle_initials":null,"last_name":"ZARROUK","page_name":"ZARROUKSINDA","domain_name":"independent","created_at":"2021-07-19T09:27:58.257-07:00","display_name":"SINDA ZARROUK","url":"https://independent.academia.edu/ZARROUKSINDA"},"attachments":[{"id":101970348,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101970348/thumbnails/1.jpg","file_name":"j.lfs.2010.05.01020230508-1-dqkoem.pdf","download_url":"https://www.academia.edu/attachments/101970348/download_file","bulk_download_file_name":"Genotypic_interactions_of_renin_angioten.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101970348/j.lfs.2010.05.01020230508-1-dqkoem-libre.pdf?1683533272=\u0026response-content-disposition=attachment%3B+filename%3DGenotypic_interactions_of_renin_angioten.pdf\u0026Expires=1740573668\u0026Signature=N9SyN8DUcm1gUdd~ITImSVXJREw6jE3JhlvW0R19-~DNCC6SgsMkQWgFk7XQKcPyXkd7BgDZgKVTZkp7ybruw1PYHh~EoU5pD8BWoaPrylPiEwyotjBvKS4MkCRsFjz3fRTtsjU0Xnu7zNl9I5Glraqlbi8KVuuRI8AN9OZ~WL~NOwnx11w7lojGcmg2PVdb95~7AtOypgIKaMlS9NKpSmTaHq6I-IVct0c1TQy0CMb6y3BdRW8zi6MYoB36VgsdTRGlf4GzkRuhhEORUt0jov8ANJj5NrOcaKwEKJTFxlTUGSrHq4vGmy60ZbsjB72~flz2nxRtcsa8SsonSRkxpw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424919"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424919/Angiotensinogen_gene_polymorphism_in_acute_myocardial_infarction_patients"><img alt="Research paper thumbnail of Angiotensinogen gene polymorphism in acute myocardial infarction patients" class="work-thumbnail" src="https://attachments.academia-assets.com/101970278/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424919/Angiotensinogen_gene_polymorphism_in_acute_myocardial_infarction_patients">Angiotensinogen gene polymorphism in acute myocardial infarction patients</a></div><div class="wp-workCard_item"><span>Journal of the Renin-Angiotensin-Aldosterone System</span><span>, 2010</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Introduction. The objective of the study was to explore the role of a genetic variant of angioten...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Introduction. The objective of the study was to explore the role of a genetic variant of angiotensinogen (AGT), M235T, as an independent risk factor for acute myocardial infarction (AMI) and to investigate the possible association with the severity of coronary artery disease (CAD), estimated on the basis of the number of coronary stenoses and critical arterial occlusions. Patients and methods. 123 AMI patients were compared to 144 healthy controls. AGT genotypes were determined by PCR. Results. A significant association was found between AGT M235T polymorphism and AMI ( p = .021). By logistic regression, the TT genotype appeared to confer 1.9-fold increased risk for AMI in both the univariate and the multivariate model. The frequencies of the TT genotype and T allele increased with the number of stenoses in coronary vessels. Moreover, the TT genotype and the T allele were more frequent in the subgroup of patients with stenoses in at least four coronary vessels than in other patients...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="95a5b0759f69f0a4020264b48a41e3cf" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970278,"asset_id":101424919,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970278/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424919"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424919"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424919; 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424918"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101424918/Mitochondrial_tRNA_glutamine_variant_in_hypertrophic_cardiomyopathy"><img alt="Research paper thumbnail of Mitochondrial tRNA glutamine variant in hypertrophic cardiomyopathy" class="work-thumbnail" src="https://attachments.academia-assets.com/101970254/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101424918/Mitochondrial_tRNA_glutamine_variant_in_hypertrophic_cardiomyopathy">Mitochondrial tRNA glutamine variant in hypertrophic cardiomyopathy</a></div><div class="wp-workCard_item"><span>Herz</span><span>, 2013</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="d54de7f4d1759d129e34e9d608b4147b" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101970254,"asset_id":101424918,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101970254/download_file?s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424918"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424918"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424918; 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101424917"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/101424917/Increased_prevalence_of_non_compaction"><img alt="Research paper thumbnail of Increased prevalence of non-compaction" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/101424917/Increased_prevalence_of_non_compaction">Increased prevalence of non-compaction</a></div><div class="wp-workCard_item"><span>European Journal of Internal Medicine</span><span>, 2014</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101424917"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101424917"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101424917; 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