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Antonio Oliva - Academia.edu
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href="https://www.academia.edu/22275060/Placental_Site_Trophoblastic_Tumor_with_lung_metastases_as_cause_of_death_in_a_young_patient_a_case_report"><img alt="Research paper thumbnail of Placental Site Trophoblastic Tumor with lung metastases as cause of death in a young patient: a case report" class="work-thumbnail" src="https://attachments.academia-assets.com/42924498/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/22275060/Placental_Site_Trophoblastic_Tumor_with_lung_metastases_as_cause_of_death_in_a_young_patient_a_case_report">Placental Site Trophoblastic Tumor with lung metastases as cause of death in a young patient: a case report</a></div><div class="wp-workCard_item"><span>Placenta</span><span>, Dec 1, 2011</span></div><div class="wp-workCard_item 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Approximately 200 cases have been reported in the literature. This disease has unpredictable biological behavior, whereas approximately 10e15% have clinically malignant evolution. We present the case of a 21-year old woman at first pregnancy without known previous abortion at 25 weeks of amenorrhea who was admitted to the hospital for hyperemesis, hepatic problems and important weight loss registered during the last few months. Few days after the admission, the patient suddenly died before the doctors can reach a diagnosis. A forensic investigation for medical malpractice was initiated. Samples collected from uterus at the autopsy revealed large trophoblastic cells with eosinophilic cytoplasm. Deposition of fibrinoid material was noticed between trophoblastic cells. Tumor cells dissected through the myometrium and invaded into the vascular spaces. Specimens of the lungs revealed numerous small neoplastic emboli into the vessels. 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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="22275056"><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/22275056/_Same_genotype_and_different_phenotypes_in_a_family_with_PRKAG2_gene_mutation_"><img alt="Research paper thumbnail of [Same genotype and different phenotypes in a family with PRKAG2 gene mutation]" 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" href="https://www.academia.edu/22275056/_Same_genotype_and_different_phenotypes_in_a_family_with_PRKAG2_gene_mutation_">[Same genotype and different phenotypes in a family with PRKAG2 gene mutation]</a></div><div class="wp-workCard_item"><span>Zhonghua Xin Xue Guan Bing Za Zhi Chinese Journal of Cardiovascular Diseases</span><span>, Jun 1, 2007</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">OBJECTIVE: The gamma(2) subunit of AMP-activated protein kinase (PRKAG2) located in chromosome 7 ...</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">OBJECTIVE: The gamma(2) subunit of AMP-activated protein kinase (PRKAG2) located in chromosome 7 plays an important role in regulating metabolic pathways, and patients with PRKAG2 mutations are associated with familial ventricular pre-excitation, hypertrophic cardiomyopathy and AV block. We observed the difference on the phenotypes in a large family with same PRKAG2 mutation.METHOD: Direct DNA sequence was performed to screen the exons and exon-intron boundaries of PRKAG2 gene in a large family with 13 affected persons detected by electrocardiography (ECG).RESULTS: Sinus bradycardia, short PR interval, right bundle bunch block (RBBB), complete AV block, atrial flutter, atrial fibrillation and sudden cardiac death were identified in this family. Hypertrophic cardiomyopathy was found in one family member. Genetic analysis revealed a missense mutation (Arg302Glu) in all affected family members. This mutation was previous described in patients with Wolff-Parkinson-White (WPW) syndrome and hypertrophic cardiomyopathy.CONCLUSIONS: Besides WPW syndrome and hypertrophic cardiomyopathy, PRKAG2 mutations are responsible also for a diverse phenotypes. PRKAG2 gene mutation should be suspected with familial occurrence of RBBB, sinus bradycardia, and short PR interval.</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="22275056"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="22275056"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 22275056; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=22275056]").text(description); $(".js-view-count[data-work-id=22275056]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 22275056; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='22275056']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 22275056, container: "", }); });</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-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.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" } } $('.js-work-strip[data-work-id=22275056]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":22275056,"title":"[Same genotype and different phenotypes in a family with PRKAG2 gene mutation]","translated_title":"","metadata":{"abstract":"OBJECTIVE: The gamma(2) subunit of AMP-activated protein kinase (PRKAG2) located in chromosome 7 plays an important role in regulating metabolic pathways, and patients with PRKAG2 mutations are associated with familial ventricular pre-excitation, hypertrophic cardiomyopathy and AV block. We observed the difference on the phenotypes in a large family with same PRKAG2 mutation.METHOD: Direct DNA sequence was performed to screen the exons and exon-intron boundaries of PRKAG2 gene in a large family with 13 affected persons detected by electrocardiography (ECG).RESULTS: Sinus bradycardia, short PR interval, right bundle bunch block (RBBB), complete AV block, atrial flutter, atrial fibrillation and sudden cardiac death were identified in this family. Hypertrophic cardiomyopathy was found in one family member. Genetic analysis revealed a missense mutation (Arg302Glu) in all affected family members. This mutation was previous described in patients with Wolff-Parkinson-White (WPW) syndrome and hypertrophic cardiomyopathy.CONCLUSIONS: Besides WPW syndrome and hypertrophic cardiomyopathy, PRKAG2 mutations are responsible also for a diverse phenotypes. PRKAG2 gene mutation should be suspected with familial occurrence of RBBB, sinus bradycardia, and short PR interval.","publication_date":{"day":1,"month":6,"year":2007,"errors":{}},"publication_name":"Zhonghua Xin Xue Guan Bing Za Zhi Chinese Journal of Cardiovascular Diseases"},"translated_abstract":"OBJECTIVE: The gamma(2) subunit of AMP-activated protein kinase (PRKAG2) located in chromosome 7 plays an important role in regulating metabolic pathways, and patients with PRKAG2 mutations are associated with familial ventricular pre-excitation, hypertrophic cardiomyopathy and AV block. We observed the difference on the phenotypes in a large family with same PRKAG2 mutation.METHOD: Direct DNA sequence was performed to screen the exons and exon-intron boundaries of PRKAG2 gene in a large family with 13 affected persons detected by electrocardiography (ECG).RESULTS: Sinus bradycardia, short PR interval, right bundle bunch block (RBBB), complete AV block, atrial flutter, atrial fibrillation and sudden cardiac death were identified in this family. Hypertrophic cardiomyopathy was found in one family member. Genetic analysis revealed a missense mutation (Arg302Glu) in all affected family members. This mutation was previous described in patients with Wolff-Parkinson-White (WPW) syndrome and hypertrophic cardiomyopathy.CONCLUSIONS: Besides WPW syndrome and hypertrophic cardiomyopathy, PRKAG2 mutations are responsible also for a diverse phenotypes. PRKAG2 gene mutation should be suspected with familial occurrence of RBBB, sinus bradycardia, and short PR interval.","internal_url":"https://www.academia.edu/22275056/_Same_genotype_and_different_phenotypes_in_a_family_with_PRKAG2_gene_mutation_","translated_internal_url":"","created_at":"2016-02-21T23:25:53.729-08:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":43579141,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"_Same_genotype_and_different_phenotypes_in_a_family_with_PRKAG2_gene_mutation_","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":43579141,"first_name":"Antonio","middle_initials":null,"last_name":"Oliva","page_name":"AntonioOliva4","domain_name":"independent","created_at":"2016-02-20T06:18:18.102-08:00","display_name":"Antonio Oliva","url":"https://independent.academia.edu/AntonioOliva4"},"attachments":[],"research_interests":[{"id":9821,"name":"Brazil","url":"https://www.academia.edu/Documents/in/Brazil"},{"id":64568,"name":"Humans","url":"https://www.academia.edu/Documents/in/Humans"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation"},{"id":98925,"name":"Female","url":"https://www.academia.edu/Documents/in/Female"},{"id":111545,"name":"Male","url":"https://www.academia.edu/Documents/in/Male"},{"id":188349,"name":"Pedigree","url":"https://www.academia.edu/Documents/in/Pedigree"},{"id":213897,"name":"Phenotype","url":"https://www.academia.edu/Documents/in/Phenotype"},{"id":323090,"name":"Cardiac Arrhythmias","url":"https://www.academia.edu/Documents/in/Cardiac_Arrhythmias"},{"id":372410,"name":"Genotype","url":"https://www.academia.edu/Documents/in/Genotype"}],"urls":[{"id":6796659,"url":"http://www.ncbi.nlm.nih.gov/pubmed/17711718"}]}, dispatcherData: dispatcherData }); 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"profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="22275054"><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/22275054/Death_due_to_anaphylactic_shock_secondary_to_intravenous_self_injection_of_Toradol_a_case_report_and_review_of_the_literature"><img alt="Research paper thumbnail of Death due to anaphylactic shock secondary to intravenous self-injection of Toradol: a case report and review of the literature" 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" href="https://www.academia.edu/22275054/Death_due_to_anaphylactic_shock_secondary_to_intravenous_self_injection_of_Toradol_a_case_report_and_review_of_the_literature">Death due to anaphylactic shock secondary to intravenous self-injection of Toradol: a case report and review of the literature</a></div><div class="wp-workCard_item"><span>Clinical toxicology (Philadelphia, Pa.)</span><span>, 2007</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">A fatality due to the intravenous self-injection of Ketorolac (Toradol) is reported. Ketorolac is...</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">A fatality due to the intravenous self-injection of Ketorolac (Toradol) is reported. Ketorolac is a nonsteroidal anti-inflammatory drug (NSAID) with marked analgesic activity. There is limited information of fatalities attributed to ketorolac toxicity. Here we report the case of a 53-year-old woman with a medical history of depression that was found deceased at home with no evidence of trauma or injuries. Near the body, a syringe and three empty vials (30 mg) of Toradol were found. A fresh needle mark on the right arm was noticed. Toxicological analyses were performed using a gas chromatography-mass spectrometry (GC/MS) technique. The estimated ketorolac concentration in the blood was 8 mug/ml; urine and gastric content were negative for this compound. Based on the autopsy, histologic findings and toxicological results of anaphylactic shock associated with ketorolac self-administration was assumed to be the underlying pathophysiological mechanism of death and the manner, suicide.</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="22275054"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="22275054"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 22275054; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=22275054]").text(description); $(".js-view-count[data-work-id=22275054]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 22275054; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='22275054']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 22275054, container: "", }); });</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-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.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" } } $('.js-work-strip[data-work-id=22275054]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":22275054,"title":"Death due to anaphylactic shock secondary to intravenous self-injection of Toradol: a case report and review of the literature","translated_title":"","metadata":{"abstract":"A fatality due to the intravenous self-injection of Ketorolac (Toradol) is reported. 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="22275053"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/22275053/Theoretical_Study_of_the_Ionization_of_the_H2S_H2S_PH3_H2S_and_ClH_H2S_Hydrogen_Bonded_Molecules"><img alt="Research paper thumbnail of Theoretical Study of the Ionization of the H2S-H2S, PH3-H2S, and ClH-H2S Hydrogen Bonded Molecules" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/22275053/Theoretical_Study_of_the_Ionization_of_the_H2S_H2S_PH3_H2S_and_ClH_H2S_Hydrogen_Bonded_Molecules">Theoretical Study of the Ionization of the H2S-H2S, PH3-H2S, and ClH-H2S Hydrogen Bonded Molecules</a></div><div class="wp-workCard_item"><span>J Am Chem Soc</span><span>, 1995</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="22275053"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="22275053"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 22275053; 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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="22275052"><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/22275052/_Auditory_evoked_potentials_of_the_brain_stem_in_brain_injury_Prognostic_value_"><img alt="Research paper thumbnail of [Auditory evoked potentials of the brain stem in brain injury. Prognostic value]" 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" href="https://www.academia.edu/22275052/_Auditory_evoked_potentials_of_the_brain_stem_in_brain_injury_Prognostic_value_">[Auditory evoked potentials of the brain stem in brain injury. Prognostic value]</a></div><div class="wp-workCard_item"><span>Minerva anestesiologica</span><span>, 1990</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">The study of brain stem auditory way in severe head trauma patients with auditory evoked potentia...</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">The study of brain stem auditory way in severe head trauma patients with auditory evoked potentials is very important for giving elements about functional and anatomic situation of analyzed neuronal substratum; ABR will be normal or altered in conformity with the level and/or the gravity of the damage. Authors have examined 20 post-traumatic comatose patients pointing out the existence of a strict relation between auditory brain stem responses and prognosis. 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="22275057"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/22275057/Arrhythmogenic_right_ventricular_cardiomyopathy_severe_structural_alterations_are_associated_with_inflammation"><img alt="Research paper thumbnail of Arrhythmogenic right ventricular cardiomyopathy: severe structural alterations are associated with inflammation" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/22275057/Arrhythmogenic_right_ventricular_cardiomyopathy_severe_structural_alterations_are_associated_with_inflammation">Arrhythmogenic right ventricular cardiomyopathy: severe structural alterations are associated with inflammation</a></div><div class="wp-workCard_item"><span>Journal of Clinical Pathology</span><span>, Sep 3, 2012</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="22275057"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="22275057"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 22275057; 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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="22275056"><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/22275056/_Same_genotype_and_different_phenotypes_in_a_family_with_PRKAG2_gene_mutation_"><img alt="Research paper thumbnail of [Same genotype and different phenotypes in a family with PRKAG2 gene mutation]" 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" href="https://www.academia.edu/22275056/_Same_genotype_and_different_phenotypes_in_a_family_with_PRKAG2_gene_mutation_">[Same genotype and different phenotypes in a family with PRKAG2 gene mutation]</a></div><div class="wp-workCard_item"><span>Zhonghua Xin Xue Guan Bing Za Zhi Chinese Journal of Cardiovascular Diseases</span><span>, Jun 1, 2007</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">OBJECTIVE: The gamma(2) subunit of AMP-activated protein kinase (PRKAG2) located in chromosome 7 ...</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">OBJECTIVE: The gamma(2) subunit of AMP-activated protein kinase (PRKAG2) located in chromosome 7 plays an important role in regulating metabolic pathways, and patients with PRKAG2 mutations are associated with familial ventricular pre-excitation, hypertrophic cardiomyopathy and AV block. We observed the difference on the phenotypes in a large family with same PRKAG2 mutation.METHOD: Direct DNA sequence was performed to screen the exons and exon-intron boundaries of PRKAG2 gene in a large family with 13 affected persons detected by electrocardiography (ECG).RESULTS: Sinus bradycardia, short PR interval, right bundle bunch block (RBBB), complete AV block, atrial flutter, atrial fibrillation and sudden cardiac death were identified in this family. Hypertrophic cardiomyopathy was found in one family member. Genetic analysis revealed a missense mutation (Arg302Glu) in all affected family members. This mutation was previous described in patients with Wolff-Parkinson-White (WPW) syndrome and hypertrophic cardiomyopathy.CONCLUSIONS: Besides WPW syndrome and hypertrophic cardiomyopathy, PRKAG2 mutations are responsible also for a diverse phenotypes. PRKAG2 gene mutation should be suspected with familial occurrence of RBBB, sinus bradycardia, and short PR interval.</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="22275056"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="22275056"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 22275056; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=22275056]").text(description); $(".js-view-count[data-work-id=22275056]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 22275056; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='22275056']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 22275056, container: "", }); });</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-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.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" } } $('.js-work-strip[data-work-id=22275056]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":22275056,"title":"[Same genotype and different phenotypes in a family with PRKAG2 gene mutation]","translated_title":"","metadata":{"abstract":"OBJECTIVE: The gamma(2) subunit of AMP-activated protein kinase (PRKAG2) located in chromosome 7 plays an important role in regulating metabolic pathways, and patients with PRKAG2 mutations are associated with familial ventricular pre-excitation, hypertrophic cardiomyopathy and AV block. We observed the difference on the phenotypes in a large family with same PRKAG2 mutation.METHOD: Direct DNA sequence was performed to screen the exons and exon-intron boundaries of PRKAG2 gene in a large family with 13 affected persons detected by electrocardiography (ECG).RESULTS: Sinus bradycardia, short PR interval, right bundle bunch block (RBBB), complete AV block, atrial flutter, atrial fibrillation and sudden cardiac death were identified in this family. Hypertrophic cardiomyopathy was found in one family member. Genetic analysis revealed a missense mutation (Arg302Glu) in all affected family members. This mutation was previous described in patients with Wolff-Parkinson-White (WPW) syndrome and hypertrophic cardiomyopathy.CONCLUSIONS: Besides WPW syndrome and hypertrophic cardiomyopathy, PRKAG2 mutations are responsible also for a diverse phenotypes. PRKAG2 gene mutation should be suspected with familial occurrence of RBBB, sinus bradycardia, and short PR interval.","publication_date":{"day":1,"month":6,"year":2007,"errors":{}},"publication_name":"Zhonghua Xin Xue Guan Bing Za Zhi Chinese Journal of Cardiovascular Diseases"},"translated_abstract":"OBJECTIVE: The gamma(2) subunit of AMP-activated protein kinase (PRKAG2) located in chromosome 7 plays an important role in regulating metabolic pathways, and patients with PRKAG2 mutations are associated with familial ventricular pre-excitation, hypertrophic cardiomyopathy and AV block. We observed the difference on the phenotypes in a large family with same PRKAG2 mutation.METHOD: Direct DNA sequence was performed to screen the exons and exon-intron boundaries of PRKAG2 gene in a large family with 13 affected persons detected by electrocardiography (ECG).RESULTS: Sinus bradycardia, short PR interval, right bundle bunch block (RBBB), complete AV block, atrial flutter, atrial fibrillation and sudden cardiac death were identified in this family. Hypertrophic cardiomyopathy was found in one family member. Genetic analysis revealed a missense mutation (Arg302Glu) in all affected family members. This mutation was previous described in patients with Wolff-Parkinson-White (WPW) syndrome and hypertrophic cardiomyopathy.CONCLUSIONS: Besides WPW syndrome and hypertrophic cardiomyopathy, PRKAG2 mutations are responsible also for a diverse phenotypes. PRKAG2 gene mutation should be suspected with familial occurrence of RBBB, sinus bradycardia, and short PR interval.","internal_url":"https://www.academia.edu/22275056/_Same_genotype_and_different_phenotypes_in_a_family_with_PRKAG2_gene_mutation_","translated_internal_url":"","created_at":"2016-02-21T23:25:53.729-08:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":43579141,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"_Same_genotype_and_different_phenotypes_in_a_family_with_PRKAG2_gene_mutation_","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":43579141,"first_name":"Antonio","middle_initials":null,"last_name":"Oliva","page_name":"AntonioOliva4","domain_name":"independent","created_at":"2016-02-20T06:18:18.102-08:00","display_name":"Antonio Oliva","url":"https://independent.academia.edu/AntonioOliva4"},"attachments":[],"research_interests":[{"id":9821,"name":"Brazil","url":"https://www.academia.edu/Documents/in/Brazil"},{"id":64568,"name":"Humans","url":"https://www.academia.edu/Documents/in/Humans"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation"},{"id":98925,"name":"Female","url":"https://www.academia.edu/Documents/in/Female"},{"id":111545,"name":"Male","url":"https://www.academia.edu/Documents/in/Male"},{"id":188349,"name":"Pedigree","url":"https://www.academia.edu/Documents/in/Pedigree"},{"id":213897,"name":"Phenotype","url":"https://www.academia.edu/Documents/in/Phenotype"},{"id":323090,"name":"Cardiac Arrhythmias","url":"https://www.academia.edu/Documents/in/Cardiac_Arrhythmias"},{"id":372410,"name":"Genotype","url":"https://www.academia.edu/Documents/in/Genotype"}],"urls":[{"id":6796659,"url":"http://www.ncbi.nlm.nih.gov/pubmed/17711718"}]}, 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="22275055"><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/22275055/Molecular_pathology_in_forensic_medicine_Introduction"><img alt="Research paper thumbnail of Molecular pathology in forensic medicine锟絀ntroduction" class="work-thumbnail" src="https://attachments.academia-assets.com/42924497/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/22275055/Molecular_pathology_in_forensic_medicine_Introduction">Molecular pathology in forensic medicine锟絀ntroduction</a></div><div class="wp-workCard_item"><span>Forensic Science International</span><span>, Dec 15, 2010</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="6dc24d41fd9f8f9a368813bf8f44d707" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":42924497,"asset_id":22275055,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/42924497/download_file?st=MTczMjM5NDc1OCw4LjIyMi4yMDguMTQ2&st=MTczMjM5NDc1OCw4LjIyMi4yMDguMTQ2&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="22275055"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="22275055"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 22275055; 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"profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="22275054"><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/22275054/Death_due_to_anaphylactic_shock_secondary_to_intravenous_self_injection_of_Toradol_a_case_report_and_review_of_the_literature"><img alt="Research paper thumbnail of Death due to anaphylactic shock secondary to intravenous self-injection of Toradol: a case report and review of the literature" 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" href="https://www.academia.edu/22275054/Death_due_to_anaphylactic_shock_secondary_to_intravenous_self_injection_of_Toradol_a_case_report_and_review_of_the_literature">Death due to anaphylactic shock secondary to intravenous self-injection of Toradol: a case report and review of the literature</a></div><div class="wp-workCard_item"><span>Clinical toxicology (Philadelphia, Pa.)</span><span>, 2007</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">A fatality due to the intravenous self-injection of Ketorolac (Toradol) is reported. Ketorolac is...</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">A fatality due to the intravenous self-injection of Ketorolac (Toradol) is reported. Ketorolac is a nonsteroidal anti-inflammatory drug (NSAID) with marked analgesic activity. There is limited information of fatalities attributed to ketorolac toxicity. Here we report the case of a 53-year-old woman with a medical history of depression that was found deceased at home with no evidence of trauma or injuries. Near the body, a syringe and three empty vials (30 mg) of Toradol were found. A fresh needle mark on the right arm was noticed. Toxicological analyses were performed using a gas chromatography-mass spectrometry (GC/MS) technique. The estimated ketorolac concentration in the blood was 8 mug/ml; urine and gastric content were negative for this compound. Based on the autopsy, histologic findings and toxicological results of anaphylactic shock associated with ketorolac self-administration was assumed to be the underlying pathophysiological mechanism of death and the manner, suicide.</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="22275054"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="22275054"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 22275054; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=22275054]").text(description); $(".js-view-count[data-work-id=22275054]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 22275054; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='22275054']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 22275054, container: "", }); });</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-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.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" } } $('.js-work-strip[data-work-id=22275054]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":22275054,"title":"Death due to anaphylactic shock secondary to intravenous self-injection of Toradol: a case report and review of the literature","translated_title":"","metadata":{"abstract":"A fatality due to the intravenous self-injection of Ketorolac (Toradol) is reported. 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Based on the autopsy, histologic findings and toxicological results of anaphylactic shock associated with ketorolac self-administration was assumed to be the underlying pathophysiological mechanism of death and the manner, suicide.","publication_date":{"day":null,"month":null,"year":2007,"errors":{}},"publication_name":"Clinical toxicology (Philadelphia, Pa.)"},"translated_abstract":"A fatality due to the intravenous self-injection of Ketorolac (Toradol) is reported. Ketorolac is a nonsteroidal anti-inflammatory drug (NSAID) with marked analgesic activity. There is limited information of fatalities attributed to ketorolac toxicity. Here we report the case of a 53-year-old woman with a medical history of depression that was found deceased at home with no evidence of trauma or injuries. Near the body, a syringe and three empty vials (30 mg) of Toradol were found. A fresh needle mark on the right arm was noticed. 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Based on the autopsy, histologic findings and toxicological results of anaphylactic shock associated with ketorolac self-administration was assumed to be the underlying pathophysiological mechanism of death and the manner, suicide.","internal_url":"https://www.academia.edu/22275054/Death_due_to_anaphylactic_shock_secondary_to_intravenous_self_injection_of_Toradol_a_case_report_and_review_of_the_literature","translated_internal_url":"","created_at":"2016-02-21T23:25:52.964-08:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":43579141,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Death_due_to_anaphylactic_shock_secondary_to_intravenous_self_injection_of_Toradol_a_case_report_and_review_of_the_literature","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":43579141,"first_name":"Antonio","middle_initials":null,"last_name":"Oliva","page_name":"AntonioOliva4","domain_name":"independent","created_at":"2016-02-20T06:18:18.102-08:00","display_name":"Antonio Oliva","url":"https://independent.academia.edu/AntonioOliva4"},"attachments":[],"research_interests":[{"id":8981,"name":"Suicide","url":"https://www.academia.edu/Documents/in/Suicide"},{"id":63886,"name":"Case Report","url":"https://www.academia.edu/Documents/in/Case_Report"},{"id":64568,"name":"Humans","url":"https://www.academia.edu/Documents/in/Humans"},{"id":72018,"name":"Anaphylaxis","url":"https://www.academia.edu/Documents/in/Anaphylaxis"},{"id":98925,"name":"Female","url":"https://www.academia.edu/Documents/in/Female"},{"id":115194,"name":"Clinical Toxicology","url":"https://www.academia.edu/Documents/in/Clinical_Toxicology"},{"id":162159,"name":"Differential Diagnosis","url":"https://www.academia.edu/Documents/in/Differential_Diagnosis"},{"id":295155,"name":"Middle Aged","url":"https://www.academia.edu/Documents/in/Middle_Aged"},{"id":529560,"name":"Gas Chromatography/mass Spectrometry","url":"https://www.academia.edu/Documents/in/Gas_Chromatography_mass_Spectrometry"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="22275053"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/22275053/Theoretical_Study_of_the_Ionization_of_the_H2S_H2S_PH3_H2S_and_ClH_H2S_Hydrogen_Bonded_Molecules"><img alt="Research paper thumbnail of Theoretical Study of the Ionization of the H2S-H2S, PH3-H2S, and ClH-H2S Hydrogen Bonded Molecules" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/22275053/Theoretical_Study_of_the_Ionization_of_the_H2S_H2S_PH3_H2S_and_ClH_H2S_Hydrogen_Bonded_Molecules">Theoretical Study of the Ionization of the H2S-H2S, PH3-H2S, and ClH-H2S Hydrogen Bonded Molecules</a></div><div class="wp-workCard_item"><span>J Am Chem Soc</span><span>, 1995</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="22275053"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="22275053"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 22275053; 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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="22275052"><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/22275052/_Auditory_evoked_potentials_of_the_brain_stem_in_brain_injury_Prognostic_value_"><img alt="Research paper thumbnail of [Auditory evoked potentials of the brain stem in brain injury. Prognostic value]" 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" href="https://www.academia.edu/22275052/_Auditory_evoked_potentials_of_the_brain_stem_in_brain_injury_Prognostic_value_">[Auditory evoked potentials of the brain stem in brain injury. Prognostic value]</a></div><div class="wp-workCard_item"><span>Minerva anestesiologica</span><span>, 1990</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">The study of brain stem auditory way in severe head trauma patients with auditory evoked potentia...</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">The study of brain stem auditory way in severe head trauma patients with auditory evoked potentials is very important for giving elements about functional and anatomic situation of analyzed neuronal substratum; ABR will be normal or altered in conformity with the level and/or the gravity of the damage. Authors have examined 20 post-traumatic comatose patients pointing out the existence of a strict relation between auditory brain stem responses and prognosis. 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