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disease</title> <meta name="description" content="Search results for: rare disease"> <meta name="keywords" content="rare disease"> <meta name="viewport" content="width=device-width, initial-scale=1, minimum-scale=1, maximum-scale=1, user-scalable=no"> <meta charset="utf-8"> <link href="https://cdn.waset.org/favicon.ico" type="image/x-icon" rel="shortcut icon"> <link href="https://cdn.waset.org/static/plugins/bootstrap-4.2.1/css/bootstrap.min.css" rel="stylesheet"> <link href="https://cdn.waset.org/static/plugins/fontawesome/css/all.min.css" rel="stylesheet"> <link href="https://cdn.waset.org/static/css/site.css?v=150220211555" rel="stylesheet"> </head> <body> <header> <div class="container"> <nav class="navbar navbar-expand-lg navbar-light"> <a class="navbar-brand" href="https://waset.org"> <img src="https://cdn.waset.org/static/images/wasetc.png" alt="Open Science Research Excellence" title="Open Science Research Excellence" /> </a> <button class="d-block d-lg-none navbar-toggler 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id="custom-search-input"> <div class="input-group"> <i class="fas fa-search"></i> <input type="text" class="search-query" name="q" placeholder="Author, Title, Abstract, Keywords" value="rare disease"> <input type="submit" class="btn_search" value="Search"> </div> </div> </form> </div> </div> <div class="row mt-3"> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Commenced</strong> in January 2007</div> </div> </div> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Frequency:</strong> Monthly</div> </div> </div> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Edition:</strong> International</div> </div> </div> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Paper Count:</strong> 4473</div> </div> </div> </div> <h1 class="mt-3 mb-3 text-center" style="font-size:1.6rem;">Search results for: rare disease</h1> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4473</span> Emerging Policy Landscape of Rare Disease Registries in India: An Analysis in Evolutionary Policy Perspective </h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Yadav%20Shyamjeet%20Maniram">Yadav Shyamjeet Maniram</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Despite reports of more than seventy million population of India affected by rare diseases, it rarely figured on the agenda of the Indian scientist and policymakers. Hitherto ignored, a fresh initiative is being attempted to establish the first national registry for rare diseases. Though there are registries for rare diseases, established by the clinicians and patient advocacy groups, they are isolated, scattered and lacks information sharing mechanism. It is the first time that there is an effort from the government of India to make an initiative on the rare disease registries, which would be more formal and systemic in nature. Since there is lack of epidemiological evidence for the rare disease in India, it is interesting to note how rare disease policy is being attempted in the vacuum of evidence required for the policy process. The objective of this study is to analyse rare disease registry creation and implementation from the parameters of evolutionary policy perspective in the absence of evidence for the policy process. This study will be exploratory and qualitative in nature, primarily based on the interviews of stakeholders involved in the rare disease registry creation and implementation. Some secondary data will include various documents related to rare disease registry. The expected outcome of this study would be on the role of stakeholders in the generation of evidence for the rare disease registry creation and implementation. This study will also try to capture negotiations and deliberations on the ethical issues in terms of data collection, preservation, and protection. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=evolutionary%20policy%20perspective" title="evolutionary policy perspective">evolutionary policy perspective</a>, <a href="https://publications.waset.org/abstracts/search?q=evidence%20for%20policy" title=" evidence for policy"> evidence for policy</a>, <a href="https://publications.waset.org/abstracts/search?q=rare%20disease%20policy" title=" rare disease policy"> rare disease policy</a>, <a href="https://publications.waset.org/abstracts/search?q=rare%20disease%20in%20India" title=" rare disease in India"> rare disease in India</a> </p> <a href="https://publications.waset.org/abstracts/88180/emerging-policy-landscape-of-rare-disease-registries-in-india-an-analysis-in-evolutionary-policy-perspective" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/88180.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">207</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4472</span> CMT4G: Rare Form of Charcot-Marie-Tooth Disease in Slovak Roma Patient</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Dana%20Gabrikov%C3%A1">Dana Gabriková</a>, <a href="https://publications.waset.org/abstracts/search?q=Martin%20Mistr%C3%ADk"> Martin Mistrík</a>, <a href="https://publications.waset.org/abstracts/search?q=Jarmila%20Bernasovsk%C3%A1"> Jarmila Bernasovská</a>, <a href="https://publications.waset.org/abstracts/search?q=Iveta%20T%C3%B3thov%C3%A1"> Iveta Tóthová</a>, <a href="https://publications.waset.org/abstracts/search?q=Jana%20Kiskov%C3%A1"> Jana Kisková </a> </p> <p class="card-text"><strong>Abstract:</strong></p> The Roma (Gypsies) is a transnational minority with a high degree of consanguineous marriages. Similar to other genetically isolated founder populations, the Roma harbor a number of unique or rare genetic disorders. This paper discusses about a rare form of Charcot-Marie-Tooth disease – type 4G (CMT4G), also called Hereditary Motor and Sensory Neuropathy type Russe, an autosomal recessive disease caused by mutation private to Roma characterized by abnormally increased density of non-myelinated axons. CMT4G was originally found in Bulgarian Roma and in 2009 two putative causative mutations in the HK1 gene were identified. Since then, several cases were reported in Roma families mainly from Bulgaria and Spain. Here we present a Slovak Roma family in which CMT4G was diagnosed on the basis of clinical examination and genetic testing. This case is a further proof of the role of the HK1 gene in pathogenesis of the disease. It confirms that mutation in the HK1 gene is a common cause of autosomal recessive CMT disease in Roma and should be considered as a common part of a diagnostic procedure. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=gypsies" title="gypsies">gypsies</a>, <a href="https://publications.waset.org/abstracts/search?q=HK1" title=" HK1"> HK1</a>, <a href="https://publications.waset.org/abstracts/search?q=HSMN-Russe" title=" HSMN-Russe"> HSMN-Russe</a>, <a href="https://publications.waset.org/abstracts/search?q=rare%20disease" title=" rare disease"> rare disease</a> </p> <a href="https://publications.waset.org/abstracts/14738/cmt4g-rare-form-of-charcot-marie-tooth-disease-in-slovak-roma-patient" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/14738.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">389</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4471</span> Juvenile Paget’s Disease(JPD) of Bone</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Aftab%20Ahmed">Aftab Ahmed</a>, <a href="https://publications.waset.org/abstracts/search?q=Ghulam%20Mehboob"> Ghulam Mehboob</a> </p> <p class="card-text"><strong>Abstract:</strong></p> The object of presentation is to highlight the importance of condition which is a very rare genetic disorder although Paget’s disease is common but its juvenile type is very rare and a late presentation due to very slow onset and lack of earlier standard management. We present a case of 25 years old male with a chronic history of bone pain and a slow onset of mild swelling, later on diagnosed as juvenile Paget disease of bone. Rarity of this condition with inaccessibility for standard health treatment can lead to a significant delay in presentation and its management. There have been 50 reported cases worldwide according to Genetic Home Reference. There is increased osteoclastic activity along with osteoblastic activity related to gene alteration and osteoprotegrin deficiency. Morbidity of disease is very significant which lead children to become immobilize. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=juvenile" title="juvenile">juvenile</a>, <a href="https://publications.waset.org/abstracts/search?q=Paget%E2%80%99s%20disease" title=" Paget’s disease"> Paget’s disease</a>, <a href="https://publications.waset.org/abstracts/search?q=bone" title=" bone"> bone</a>, <a href="https://publications.waset.org/abstracts/search?q=Northern%20Area%20of%20Pakistan" title=" Northern Area of Pakistan"> Northern Area of Pakistan</a> </p> <a href="https://publications.waset.org/abstracts/43837/juvenile-pagets-diseasejpd-of-bone" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/43837.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">327</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4470</span> Whole Exome Sequencing in Characterizing Mysterious Crippling Disorder in India</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Swarkar%20Sharma">Swarkar Sharma</a>, <a href="https://publications.waset.org/abstracts/search?q=Ekta%20Rai"> Ekta Rai</a>, <a href="https://publications.waset.org/abstracts/search?q=Ankit%20Mahajan"> Ankit Mahajan</a>, <a href="https://publications.waset.org/abstracts/search?q=Parvinder%20Kumar"> Parvinder Kumar</a>, <a href="https://publications.waset.org/abstracts/search?q=Manoj%20K%20Dhar"> Manoj K Dhar</a>, <a href="https://publications.waset.org/abstracts/search?q=Sushil%20Razdan"> Sushil Razdan</a>, <a href="https://publications.waset.org/abstracts/search?q=Kumarasamy%20Thangaraj"> Kumarasamy Thangaraj</a>, <a href="https://publications.waset.org/abstracts/search?q=Carol%20Wise"> Carol Wise</a>, <a href="https://publications.waset.org/abstracts/search?q=Shiro%20Ikegawa%20M.D."> Shiro Ikegawa M.D.</a>, <a href="https://publications.waset.org/abstracts/search?q=K.K.%20Pandita%20M.D."> K.K. Pandita M.D. </a> </p> <p class="card-text"><strong>Abstract:</strong></p> Rare disorders are poorly understood hence, remain uncharacterized or patients are misdiagnosed and get poor medical attention. A rare mysterious skeletal disorder that remained unidentified for decades and rendered many people physically challenged and disabled for life has been reported in an isolated remote village ‘Arai’ of Poonch district of Jammu and Kashmir. This village is located deep in mountains and the population residing in the region is highly consanguineous. In our survey of the region, 70 affected people were reported, showing similar phenotype, in the village with a population of approximately 5000 individuals. We were able to collect samples from two multi generational extended families from the village. Through Whole Exome sequencing (WES), we identified a rare variation NM_003880.3:c.156C>A NP_003871.1:p.Cys52Ter, which results in introduction of premature stop codon in WISP3 gene. We found this variation perfectly segregating with the disease in one of the family. However, this variation was absent in other family. Interestingly, a novel splice site mutation at position c.643+1G>A of WISP3 gene, perfectly segregating with the disease was observed in the second family. Thus, exploiting WES and putting different evidences together (familial histories and genetic data, clinical features, radiological and biochemical tests and findings), the disease has finally been diagnosed as a very rare recessive hereditary skeletal disease “Progressive Pseudorheumatoid Arthropathy of Childhood” (PPAC) also known as “Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy” (SEDT-PA). This genetic characterization and identification of the disease causing mutations will aid in genetic counseling, critically required to curb this rare disorder and to prevent its appearance in future generations in the population. Further, understanding of the role of WISP3 gene the biological pathways should help in developing treatment for the disorder. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=whole%20exome%20sequencing" title="whole exome sequencing">whole exome sequencing</a>, <a href="https://publications.waset.org/abstracts/search?q=Next%20Generation%20Sequencing" title=" Next Generation Sequencing"> Next Generation Sequencing</a>, <a href="https://publications.waset.org/abstracts/search?q=rare%20disorders" title=" rare disorders"> rare disorders</a> </p> <a href="https://publications.waset.org/abstracts/17895/whole-exome-sequencing-in-characterizing-mysterious-crippling-disorder-in-india" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/17895.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">411</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4469</span> Cutaneous Crohn’s Disease in a Child: Atypical Axillary Involvement</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=A.%20Al%20Yousef">A. Al Yousef</a>, <a href="https://publications.waset.org/abstracts/search?q=A.%20Toulon"> A. Toulon</a>, <a href="https://publications.waset.org/abstracts/search?q=L.%20Petit"> L. Petit</a>, <a href="https://publications.waset.org/abstracts/search?q=S.%20Fraitag"> S. Fraitag</a>, <a href="https://publications.waset.org/abstracts/search?q=F.%20Ruemmele"> F. Ruemmele</a>, <a href="https://publications.waset.org/abstracts/search?q=S.%20Hadj-Rabia"> S. Hadj-Rabia</a>, <a href="https://publications.waset.org/abstracts/search?q=C.%20Bodemer"> C. Bodemer</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Cutaneous Crohn’s disease (CCD) refers to an extremely rare granulomatous inflammation of the skin that is non-contiguous to the bowel tract. These cutaneous lesions can occur prior to, concurrent with, or after the gastrointestinal manifestations. In adults, CCD most frequently occurs in the setting of well-documented intestinal disease. Only 20% of cases occur prior to its development. Review of CCD in children, reveals that 86% of cases (24 of 28) occurring in patients without a known diagnosis of intestinal Crohn’s disease. Overall, the genitalia was the most commonly involved location, representing 21 of the 28 cases with 16 vulvar and 5 penile/scrotal lesions. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=Crohn%E2%80%99s%20disease" title="Crohn’s disease">Crohn’s disease</a>, <a href="https://publications.waset.org/abstracts/search?q=cutaneous%20manifestations" title=" cutaneous manifestations"> cutaneous manifestations</a>, <a href="https://publications.waset.org/abstracts/search?q=children" title=" children"> children</a>, <a href="https://publications.waset.org/abstracts/search?q=atypical%20axillary%20involvement" title=" atypical axillary involvement"> atypical axillary involvement</a> </p> <a href="https://publications.waset.org/abstracts/16760/cutaneous-crohns-disease-in-a-child-atypical-axillary-involvement" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/16760.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">282</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4468</span> Budd-Chiari Syndrome: Common Presentation, Rare Disease</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Aadil%20Khan">Aadil Khan</a>, <a href="https://publications.waset.org/abstracts/search?q=Yasser%20Chomayil"> Yasser Chomayil</a>, <a href="https://publications.waset.org/abstracts/search?q=P.%20P.%20Venugopalan"> P. P. Venugopalan</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Background: Budd-Chiari syndrome is caused by thrombosis of the hepatic veins and/or the thrombosis of the intrahepatic or suprahepatic IVC. The etiology remains idiopathic in 16% -35% of cases. Malignancy, rheumatological disorder, myeloproliferative disease, inheritable coagulopathy, infection or hyperestrogen state can be identified in many cases. Methodology: Review of case records of the patient presented to Aster Medcity, Emergency Department, Cochin. Introduction:17 years old female was presented to ED with fever, jaundice and abdominal distention since 1 week. O/E: Pallor+, icterus+. Abdomen- gross distension+, shifting dullness+, generalized anasarca+. USG abdomen showed hepatomegaly with mild coarse echotexture and moderate to gross ascites. CT abdomen and chest showed hepatomegaly with thrombosis of all three hepatic vein and moderate ascites suggestive of Budd-Chiari syndrome. Patient was taken for catheter vein thrombolysis. Venogram done the next day revealed almost > 50% opening of the right hepatic vein. Concurrent doppler showed colour and doppler signals in middle hepatic veins. She gradually improved and was discharged home on anticoagulant and adviced regular follow up. Conclusion: Being a rare disease in this young population, high suspicion is required when evaluating young patients with abdominal pain and jaundice. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=Budd-Chiari%20syndrome" title="Budd-Chiari syndrome">Budd-Chiari syndrome</a>, <a href="https://publications.waset.org/abstracts/search?q=rare%20disease" title=" rare disease"> rare disease</a>, <a href="https://publications.waset.org/abstracts/search?q=abdominal%20pain" title=" abdominal pain"> abdominal pain</a>, <a href="https://publications.waset.org/abstracts/search?q=India" title=" India"> India</a> </p> <a href="https://publications.waset.org/abstracts/59334/budd-chiari-syndrome-common-presentation-rare-disease" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/59334.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">277</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4467</span> Innate Immune Dysfunction in Niemann Pick Disease Type C</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Stephanie%20Newman">Stephanie Newman</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Niemann-Pick Type C disease is a rare, usually fatal lysosomal storage disorder. Although clinically characterized by progressive neurodegeneration, there is also evidence of altered innate immune responses such as neuroinflammation that promote disease progression. We have initiated an investigation into whether phagocytosis, an important innate immune activity and the process by which particles are ingested is defective in NPC. Using an in vitro assay, we have shown that NPC macrophages have a deficiency in the phagocytosis of different particles. We plan to investigate the mechanistic basis for impaired phagocytosis, the contribution that this deficiency makes to disease pathology, and whether therapies that have shown in vivo benefit are able to restore phagocytic activity. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=Niemann%20Pick%20Disease%20C" title="Niemann Pick Disease C">Niemann Pick Disease C</a>, <a href="https://publications.waset.org/abstracts/search?q=phagocytosis" title=" phagocytosis"> phagocytosis</a>, <a href="https://publications.waset.org/abstracts/search?q=innate%20immunity" title=" innate immunity"> innate immunity</a>, <a href="https://publications.waset.org/abstracts/search?q=lysosomal%20storage%20disorder" title=" lysosomal storage disorder "> lysosomal storage disorder </a> </p> <a href="https://publications.waset.org/abstracts/34154/innate-immune-dysfunction-in-niemann-pick-disease-type-c" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/34154.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">392</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4466</span> Investigating the Factors Affecting Generalization of Deep Learning Models for Plant Disease Detection</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Praveen%20S.%20Muthukumarana">Praveen S. Muthukumarana</a>, <a href="https://publications.waset.org/abstracts/search?q=Achala%20C.%20Aponso"> Achala C. Aponso</a> </p> <p class="card-text"><strong>Abstract:</strong></p> A large percentage of global crop harvest is lost due to crop diseases. Timely identification and treatment of crop diseases is difficult in many developing nations due to insufficient trained professionals in the field of agriculture. Many crop diseases can be accurately diagnosed by visual symptoms. In the past decade, deep learning has been successfully utilized in domains such as healthcare but adoption in agriculture for plant disease detection is rare. The literature shows that models trained with popular datasets such as PlantVillage does not generalize well on real world images. This paper attempts to find out how to make plant disease identification models that generalize well with real world images. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=agriculture" title="agriculture">agriculture</a>, <a href="https://publications.waset.org/abstracts/search?q=convolutional%20neural%20network" title=" convolutional neural network"> convolutional neural network</a>, <a href="https://publications.waset.org/abstracts/search?q=deep%20learning" title=" deep learning"> deep learning</a>, <a href="https://publications.waset.org/abstracts/search?q=plant%20disease%20classification" title=" plant disease classification"> plant disease classification</a>, <a href="https://publications.waset.org/abstracts/search?q=plant%20disease%20detection" title=" plant disease detection"> plant disease detection</a>, <a href="https://publications.waset.org/abstracts/search?q=plant%20disease%20diagnosis" title=" plant disease diagnosis"> plant disease diagnosis</a> </p> <a href="https://publications.waset.org/abstracts/127286/investigating-the-factors-affecting-generalization-of-deep-learning-models-for-plant-disease-detection" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/127286.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">145</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4465</span> A Case Report on the Multidisciplinary Approach on Rectal Adenocarcinoma in Pregnancy</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Maria%20Cristina%20B.%20Cabanag">Maria Cristina B. Cabanag</a>, <a href="https://publications.waset.org/abstracts/search?q=Elijinese%20Marie%20S.%20Culangen"> Elijinese Marie S. Culangen</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Pregnancy is a period in a woman's life wherein the body may undergo different physiological changes. These changes can be attributed to the interplay of hormones in the body but can mask a more sinister type of disease such as malignancy on rare occasions. Colorectal cancer (CRC) in pregnancy is an epidemiologically rare disease worldwide. To our knowledge, no available studies were reported in the Philippines at the time of this writing, posing a dilemma for its appropriate diagnosis and management. Signs and symptoms of colorectal malignancy may camouflage a normal pregnancy and, when overlooked, impedes an appropriate approach. This case of a 38-year-old elderly primigravid who presented with hematochezia on her 25th week of gestation. She was diagnosed with rectal adenocarcinoma later in pregnancy which warranted a predicament regarding her appropriate care and management. This paper explores the repertoire of the different diagnostic and treatment approaches to colorectal cancer in the second trimester of pregnancy, with the least possible maternal and fetal hazards. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=cancer%20in%20pregnancy" title="cancer in pregnancy">cancer in pregnancy</a>, <a href="https://publications.waset.org/abstracts/search?q=chemotherapy%20in%20pregnancy" title=" chemotherapy in pregnancy"> chemotherapy in pregnancy</a>, <a href="https://publications.waset.org/abstracts/search?q=colorectal%20cancer" title=" colorectal cancer"> colorectal cancer</a>, <a href="https://publications.waset.org/abstracts/search?q=hematochezia%20in%20pregnancy" title=" hematochezia in pregnancy"> hematochezia in pregnancy</a> </p> <a href="https://publications.waset.org/abstracts/153138/a-case-report-on-the-multidisciplinary-approach-on-rectal-adenocarcinoma-in-pregnancy" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/153138.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">174</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4464</span> An Approach for Estimation in Hierarchical Clustered Data Applicable to Rare Diseases</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Daniel%20C.%20Bonzo">Daniel C. Bonzo</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Practical considerations lead to the use of unit of analysis within subjects, e.g., bleeding episodes or treatment-related adverse events, in rare disease settings. This is coupled with data augmentation techniques such as extrapolation to enlarge the subject base. In general, one can think about extrapolation of data as extending information and conclusions from one estimand to another estimand. This approach induces hierarchichal clustered data with varying cluster sizes. Extrapolation of clinical trial data is being accepted increasingly by regulatory agencies as a means of generating data in diverse situations during drug development process. Under certain circumstances, data can be extrapolated to a different population, a different but related indication, and different but similar product. We consider here the problem of estimation (point and interval) using a mixed-models approach under an extrapolation. It is proposed that estimators (point and interval) be constructed using weighting schemes for the clusters, e.g., equally weighted and with weights proportional to cluster size. Simulated data generated under varying scenarios are then used to evaluate the performance of this approach. In conclusion, the evaluation result showed that the approach is a useful means for improving statistical inference in rare disease settings and thus aids not only signal detection but risk-benefit evaluation as well. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=clustered%20data" title="clustered data">clustered data</a>, <a href="https://publications.waset.org/abstracts/search?q=estimand" title=" estimand"> estimand</a>, <a href="https://publications.waset.org/abstracts/search?q=extrapolation" title=" extrapolation"> extrapolation</a>, <a href="https://publications.waset.org/abstracts/search?q=mixed%20model" title=" mixed model"> mixed model</a> </p> <a href="https://publications.waset.org/abstracts/122602/an-approach-for-estimation-in-hierarchical-clustered-data-applicable-to-rare-diseases" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/122602.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">136</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4463</span> Myroides Bacteremia: A Case Report</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Jamie%20Lynn%20Co">Jamie Lynn Co</a>, <a href="https://publications.waset.org/abstracts/search?q=Mary%20Shiela%20Ariola-Ramos"> Mary Shiela Ariola-Ramos</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Myroides are aerobic, yellow-pigmented, non-motile, non-fermenting gram-negative rods. They are commonly found in the environment such as water and soil. Although found in the environment, Myroides are rare pathogens of humans. Myroides spp. primarily infect immunocompromised patients, often with diabetes mellitus, liver cirrhosis, chronic kidney disease, chronic obstructive pulmonary disease or prolonged corticosteroid therapy. We present a case of a 70-year-old immunocompromised patient with diabetes mellitus, chronic renal failure, diagnosed with sepsis caused by Myroides spp. The primary portal and source of infection were the pustules and boils found on the lower extremities of the patient. Susceptibility testing showed that our isolate was only susceptible to ciprofloxacin and meropenem; and following the treatment, the patient recovered. Myroides continues to be a rare pathogen of humans that is prevalent in our environment. It primarily affects immunocompromised patients such as those with uncontrolled diabetes mellitus, chronic kidney disease, etc. Despite their low virulence, physicians should consider this opportunistic pathogen as possible etiologic agent especially in cases wherein there is lack of response to commonly used antibiotics. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=bacteremia" title="bacteremia">bacteremia</a>, <a href="https://publications.waset.org/abstracts/search?q=immunocompromised" title=" immunocompromised"> immunocompromised</a>, <a href="https://publications.waset.org/abstracts/search?q=gram%20negative%20rods" title=" gram negative rods"> gram negative rods</a>, <a href="https://publications.waset.org/abstracts/search?q=Myroides" title=" Myroides"> Myroides</a> </p> <a href="https://publications.waset.org/abstracts/104008/myroides-bacteremia-a-case-report" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/104008.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">160</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4462</span> Thermodynamic Properties of Binary Gold-Rare Earth Compounds (Au-RE)</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=H.%20Krarchaa">H. Krarchaa</a>, <a href="https://publications.waset.org/abstracts/search?q=A.%20Ferroudj"> A. Ferroudj</a> </p> <p class="card-text"><strong>Abstract:</strong></p> This work presents the results of thermodynamic properties of intermetallic rare earth-gold compounds at different stoichiometric structures. It mentions the existence of the AuRE AuRE2, Au2RE, Au51RE14, Au6RE, Au3RE and Au4RE phases in the majority of Au-RE phase diagrams. It's observed that equiatomic composition is a common compound for all gold rare earth alloys and it has the highest melting temperature. Enthalpies of the formation of studied compounds are calculated based on a new reformulation of Miedema’s model. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=rare%20earth%20element" title="rare earth element">rare earth element</a>, <a href="https://publications.waset.org/abstracts/search?q=enthalpy%20of%20formation" title=" enthalpy of formation"> enthalpy of formation</a>, <a href="https://publications.waset.org/abstracts/search?q=thermodynamic%20properties" title=" thermodynamic properties"> thermodynamic properties</a>, <a href="https://publications.waset.org/abstracts/search?q=macroscopic%20model" title=" macroscopic model"> macroscopic model</a> </p> <a href="https://publications.waset.org/abstracts/191105/thermodynamic-properties-of-binary-gold-rare-earth-compounds-au-re" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/191105.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">20</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4461</span> Whole Exome Sequencing Data Analysis of Rare Diseases: Non-Coding Variants and Copy Number Variations</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=S.%20Fahiminiya">S. Fahiminiya</a>, <a href="https://publications.waset.org/abstracts/search?q=J.%20Nadaf"> J. Nadaf</a>, <a href="https://publications.waset.org/abstracts/search?q=F.%20Rauch"> F. Rauch</a>, <a href="https://publications.waset.org/abstracts/search?q=L.%20Jerome-Majewska"> L. Jerome-Majewska</a>, <a href="https://publications.waset.org/abstracts/search?q=J.%20Majewski"> J. Majewski </a> </p> <p class="card-text"><strong>Abstract:</strong></p> Background: Sequencing of protein coding regions of human genome (Whole Exome Sequencing; WES), has demonstrated a great success in the identification of causal mutations for several rare genetic disorders in human. Generally, most of WES studies have focused on rare variants in coding exons and splicing-sites where missense substitutions lead to the alternation of protein product. Although focusing on this category of variants has revealed the mystery behind many inherited genetic diseases in recent years, a subset of them remained still inconclusive. Here, we present the result of our WES studies where analyzing only rare variants in coding regions was not conclusive but further investigation revealed the involvement of non-coding variants and copy number variations (CNV) in etiology of the diseases. Methods: Whole exome sequencing was performed using our standard protocols at Genome Quebec Innovation Center, Montreal, Canada. All bioinformatics analyses were done using in-house WES pipeline. Results: To date, we successfully identified several disease causing mutations within gene coding regions (e.g. SCARF2: Van den Ende-Gupta syndrome and SNAP29: 22q11.2 deletion syndrome) by using WES. In addition, we showed that variants in non-coding regions and CNV have also important value and should not be ignored and/or filtered out along the way of bioinformatics analysis on WES data. For instance, in patients with osteogenesis imperfecta type V and in patients with glucocorticoid deficiency, we identified variants in 5'UTR, resulting in the production of longer or truncating non-functional proteins. Furthermore, CNVs were identified as the main cause of the diseases in patients with metaphyseal dysplasia with maxillary hypoplasia and brachydactyly and in patients with osteogenesis imperfecta type VII. Conclusions: Our study highlights the importance of considering non-coding variants and CNVs during interpretation of WES data, as they can be the only cause of disease under investigation. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=whole%20exome%20sequencing%20data" title="whole exome sequencing data">whole exome sequencing data</a>, <a href="https://publications.waset.org/abstracts/search?q=non-coding%20variants" title=" non-coding variants"> non-coding variants</a>, <a href="https://publications.waset.org/abstracts/search?q=copy%20number%20variations" title=" copy number variations"> copy number variations</a>, <a href="https://publications.waset.org/abstracts/search?q=rare%20diseases" title=" rare diseases"> rare diseases</a> </p> <a href="https://publications.waset.org/abstracts/24069/whole-exome-sequencing-data-analysis-of-rare-diseases-non-coding-variants-and-copy-number-variations" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/24069.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">419</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4460</span> Fused Salt Electrolysis of Rare-Earth Materials from the Domestic Ore and Preparation of Rare-Earth Hydrogen Storage Alloys</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Jeong-Hyun%20Yoo">Jeong-Hyun Yoo</a>, <a href="https://publications.waset.org/abstracts/search?q=Hanjung%20Kwon"> Hanjung Kwon</a>, <a href="https://publications.waset.org/abstracts/search?q=Sung-Wook%20Cho"> Sung-Wook Cho</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Fused salt electrolysis was studied to make the high purity rare-earth metals using domestic rare-earth ore. The target metals of the fused salt electrolysis were Mm (Misch metal), La, Ce, Nd, etc. Fused salt electrolysis was performed with the supporting salt such as chloride and fluoride at the various temperatures and ampere. The metals made by fused salt electrolysis were analyzed to identify the phase and composition using the methods of XRD and ICP. As a result, the acquired rare-earth metals were the high purity ones which had more than 99% purity. Also, VIM (vacuum induction melting) was studied to make the kg level rare-earth alloy for the use of secondary battery and hydrogen storage. In order to indentify the physicochemical properties such as phase, impurity gas, alloy composition and hydrogen storage, the alloys were investigated. The battery characteristics were also analyzed through the various tests in the real production line of a battery company. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=domestic%20rare-earth%20ore" title="domestic rare-earth ore">domestic rare-earth ore</a>, <a href="https://publications.waset.org/abstracts/search?q=fused%20salt%20electrolysis" title=" fused salt electrolysis"> fused salt electrolysis</a>, <a href="https://publications.waset.org/abstracts/search?q=rare-earth%20materials" title=" rare-earth materials"> rare-earth materials</a>, <a href="https://publications.waset.org/abstracts/search?q=hydrogen%20storage%20alloy" title=" hydrogen storage alloy"> hydrogen storage alloy</a>, <a href="https://publications.waset.org/abstracts/search?q=secondary%20battery" title=" secondary battery"> secondary battery</a> </p> <a href="https://publications.waset.org/abstracts/17072/fused-salt-electrolysis-of-rare-earth-materials-from-the-domestic-ore-and-preparation-of-rare-earth-hydrogen-storage-alloys" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/17072.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">533</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4459</span> Rare Diagnosis in Emergency Room: Moyamoya Disease</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Ecem%20Deniz%20K%C4%B1rkpantur">Ecem Deniz Kırkpantur</a>, <a href="https://publications.waset.org/abstracts/search?q=Ozge%20Ecmel%20Onur"> Ozge Ecmel Onur</a>, <a href="https://publications.waset.org/abstracts/search?q=Tuba%20Cimilli%20Ozturk"> Tuba Cimilli Ozturk</a>, <a href="https://publications.waset.org/abstracts/search?q=Ebru%20Unal%20Akoglu"> Ebru Unal Akoglu</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Moyamoya disease is a unique chronic progressive cerebrovascular disease characterized by bilateral stenosis or occlusion of the arteries around the circle of Willis with prominent arterial collateral circulation. The occurrence of Moyamoya disease is related to immune, genetic and other factors. There is no curative treatment for Moyamoya disease. Secondary prevention for patients with symptomatic Moyamoya disease is largely centered on surgical revascularization techniques. We present here a 62-year old male presented with headache and vision loss for 2 days. He was previously diagnosed with hypertension and glaucoma. On physical examination, left eye movements were restricted medially, both eyes were hyperemic and their movements were painful. Other neurological and physical examination were normal. His vital signs and laboratory results were within normal limits. Computed tomography (CT) showed dilated vascular structures around both lateral ventricles and atherosclerotic changes inside the walls of internal carotid artery (ICA). Magnetic resonance imaging (MRI) and angiography (MRA) revealed dilated venous vascular structures around lateral ventricles and hyper-intense gliosis in periventricular white matter. Ischemic gliosis around the lateral ventricles were present in the Digital Subtracted Angiography (DSA). After the neurology, ophthalmology and neurosurgery consultation, the patient was diagnosed with Moyamoya disease, pulse steroid therapy was started for vision loss, and super-selective DSA was planned for further investigation. Moyamoya disease is a rare condition, but it can be an important cause of stroke in both children and adults. It generally affects anterior circulation, but posterior cerebral circulation may also be affected, as well. In the differential diagnosis of acute vision loss, occipital stroke related to Moyamoya disease should be considered. Direct and indirect surgical revascularization surgeries may be used to effectively revascularize affected brain areas, and have been shown to reduce risk of stroke. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=headache" title="headache">headache</a>, <a href="https://publications.waset.org/abstracts/search?q=Moyamoya%20disease" title=" Moyamoya disease"> Moyamoya disease</a>, <a href="https://publications.waset.org/abstracts/search?q=stroke" title=" stroke"> stroke</a>, <a href="https://publications.waset.org/abstracts/search?q=visual%20loss" title=" visual loss"> visual loss</a> </p> <a href="https://publications.waset.org/abstracts/73630/rare-diagnosis-in-emergency-room-moyamoya-disease" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/73630.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">267</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4458</span> Leveraging Remote Assessments and Central Raters to Optimize Data Quality in Rare Neurodevelopmental Disorders Clinical Trials</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Pamela%20Ventola">Pamela Ventola</a>, <a href="https://publications.waset.org/abstracts/search?q=Laurel%20Bales"> Laurel Bales</a>, <a href="https://publications.waset.org/abstracts/search?q=Sara%20Florczyk"> Sara Florczyk</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Background: Fully remote or hybrid administration of clinical outcome measures in rare neurodevelopmental disorders trials is increasing due to the ongoing pandemic and recognition that remote assessments reduce the burden on families. Many assessments in rare neurodevelopmental disorders trials are complex; however, remote/hybrid trials readily allow for the use of centralized raters to administer and score the scales. The use of centralized raters has many benefits, including reducing site burden; however, a specific impact on data quality has not yet been determined. Purpose: The current study has two aims: a) evaluate differences in data quality between administration of a standardized clinical interview completed by centralized raters compared to those completed by site raters and b) evaluate improvement in accuracy of scoring standardized developmental assessments when scored centrally compared to when scored by site raters. Methods: For aim 1, the Vineland-3, a widely used measure of adaptive functioning, was administered by site raters (n= 52) participating in one of four rare disease trials. The measure was also administered as part of two additional trials that utilized central raters (n=7). Each rater completed a comprehensive training program on the assessment. Following completion of the training, each clinician completed a Vineland-3 with a mock caregiver. Administrations were recorded and reviewed by a neuropsychologist for administration and scoring accuracy. Raters were able to certify for the trials after demonstrating an accurate administration of the scale. For site raters, 25% of each rater’s in-study administrations were reviewed by a neuropsychologist for accuracy of administration and scoring. For central raters, the first two administrations and every 10th administration were reviewed. Aim 2 evaluated the added benefit of centralized scoring on the accuracy of scoring of the Bayley-3, a comprehensive developmental assessment widely used in rare neurodevelopmental disorders trials. Bayley-3 administrations across four rare disease trials were centrally scored. For all administrations, the site rater who administered the Bayley-3 scored the scale, and a centralized rater reviewed the video recordings of the administrations and also scored the scales to confirm accuracy. Results: For aim 1, site raters completed 138 Vineland-3 administrations. Of the138 administrations, 53 administrations were reviewed by a neuropsychologist. Four of the administrations had errors that compromised the validity of the assessment. The central raters completed 180 Vineland-3 administrations, 38 administrations were reviewed, and none had significant errors. For aim 2, 68 administrations of the Bayley-3 were reviewed and scored by both a site rater and a centralized rater. Of these administrations, 25 had errors in scoring that were corrected by the central rater. Conclusion: In rare neurodevelopmental disorders trials, sample sizes are often small, so data quality is critical. The use of central raters inherently decreases site burden, but it also decreases rater variance, as illustrated by the small team of central raters (n=7) needed to conduct all of the assessments (n=180) in these trials compared to the number of site raters (n=53) required for even fewer assessments (n=138). In addition, the use of central raters dramatically improves the quality of scoring the assessments. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=neurodevelopmental%20disorders" title="neurodevelopmental disorders">neurodevelopmental disorders</a>, <a href="https://publications.waset.org/abstracts/search?q=clinical%20trials" title=" clinical trials"> clinical trials</a>, <a href="https://publications.waset.org/abstracts/search?q=rare%20disease" title=" rare disease"> rare disease</a>, <a href="https://publications.waset.org/abstracts/search?q=central%20raters" title=" central raters"> central raters</a>, <a href="https://publications.waset.org/abstracts/search?q=remote%20trials" title=" remote trials"> remote trials</a>, <a href="https://publications.waset.org/abstracts/search?q=decentralized%20trials" title=" decentralized trials"> decentralized trials</a> </p> <a href="https://publications.waset.org/abstracts/146495/leveraging-remote-assessments-and-central-raters-to-optimize-data-quality-in-rare-neurodevelopmental-disorders-clinical-trials" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/146495.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">172</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4457</span> Clinical Manifestations, Pathogenesis and Medical Treatment of Stroke Caused by Basic Mitochondrial Abnormalities (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes, MELAS)</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Wu%20Liching">Wu Liching</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Aim This case aims to discuss the pathogenesis, clinical manifestations and medical treatment of strokes caused by mitochondrial gene mutations. Methods Diagnosis of ischemic stroke caused by mitochondrial gene defect by means of "next-generation sequencing mitochondrial DNA gene variation detection", imaging examination, neurological examination, and medical history; this study took samples from the neurology ward of a medical center in northern Taiwan cases diagnosed with acute cerebral infarction as the research objects. Result This case is a 49-year-old married woman with a rare disease, mitochondrial gene mutation inducing ischemic stroke. She has severe hearing impairment and needs to use hearing aids, and has a history of diabetes. During the patient’s hospitalization, the blood test showed that serum Lactate: 7.72 mmol/L, Lactate (CSF) 5.9 mmol/L. Through the collection of relevant medical history, neurological evaluation showed changes in consciousness and cognition, slow response in language expression, and brain magnetic resonance imaging examination showed subacute bilateral temporal lobe infarction, which was an atypical type of stroke. The lineage DNA gene has m.3243A>G known pathogenic mutation point, and its heteroplasmic level is 24.6%. This pathogenic point is located in MITOMAP and recorded as Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) , Leigh Syndrome and other disease-related pathogenic loci, this mutation is located in ClinVar and recorded as Pathogenic (dbSNP: rs199474657), so it is diagnosed as a case of stroke caused by a rare disease mitochondrial gene mutation. After medical treatment, there was no more seizure during hospitalization. After interventional rehabilitation, the patient's limb weakness, poor language function, and cognitive impairment have all improved significantly. Conclusion Mitochondrial disorders can also be associated with abnormalities in psychological, neurological, cerebral cortical function, and autonomic functions, as well as problems with internal medical diseases. Therefore, the differential diagnoses cover a wide range and are not easy to be diagnosed. After neurological evaluation, medical history collection, imaging and rare disease serological examination, atypical ischemic stroke caused by rare mitochondrial gene mutation was diagnosed. We hope that through this case, the diagnosis of rare disease mitochondrial gene variation leading to cerebral infarction will be more familiar to clinical medical staff, and this case report may help to improve the clinical diagnosis and treatment for patients with similar clinical symptoms in the future. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=acute%20stroke" title="acute stroke">acute stroke</a>, <a href="https://publications.waset.org/abstracts/search?q=MELAS" title=" MELAS"> MELAS</a>, <a href="https://publications.waset.org/abstracts/search?q=lactic%20acidosis" title=" lactic acidosis"> lactic acidosis</a>, <a href="https://publications.waset.org/abstracts/search?q=mitochondrial%20disorders" title=" mitochondrial disorders"> mitochondrial disorders</a> </p> <a href="https://publications.waset.org/abstracts/169802/clinical-manifestations-pathogenesis-and-medical-treatment-of-stroke-caused-by-basic-mitochondrial-abnormalities-mitochondrial-encephalopathy-lactic-acidosis-and-stroke-like-episodes-melas" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/169802.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">70</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4456</span> Rare Case of Pyoderma Gangrenosum of the Upper Limb</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Karissa%20A.%20Graham">Karissa A. Graham</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Pyoderma gangrenosum (PG) is a prototypic autoinflammatory neutrophilic dermatosis that is a rare disorder. It presents a diagnostic challenge owing to its variable presentation, clinical overlap with other conditions, it is often associated with other systemic conditions, and there is no definitive histological or laboratory characteristic. The Delphai consensus for PG includes the presence of at least one ulcer on the anterior lower limb. Systemic corticosteroids and immunosuppressive therapies are the mainstay treatment for PG. We describe a case report of delayed diagnosis of ulcerative pyoderma gangrenosum in a 44-year-old male on his forearm. The patient presented with an infected ulcer on his right forearm that had been present for over three years. The patient was a Type 2 Diabetic with no personal or family history of inflammatory bowel disease or other autoimmune diseases. The patient was initially investigated for malignancy, but biopsies returned as chronic inflammatory tissue with neutrophilic infiltrate and no malignancy. The patient was commenced on systemic prednisone for the treatment of pyoderma gangrenosum. The diagnosis of ulcerative PG poses a challenge given the vast differential diagnosis for a cutaneous ulcer (i.e., malignant, vascular, autoimmune, trauma, infective, etc.). Diagnostic accuracy is important given that the treatment for PG with steroids does not go without risks and indeed may be contraindicated in other potential causes of the ulcer. Indeed, more common and more sinister causes of ulcers should be investigated first, as death from PG is quite rare. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=dermatological%20diagnosis" title="dermatological diagnosis">dermatological diagnosis</a>, <a href="https://publications.waset.org/abstracts/search?q=dermatosis" title=" dermatosis"> dermatosis</a>, <a href="https://publications.waset.org/abstracts/search?q=pyoderma%20gangrenosum" title=" pyoderma gangrenosum"> pyoderma gangrenosum</a>, <a href="https://publications.waset.org/abstracts/search?q=rare%20presentation" title=" rare presentation"> rare presentation</a> </p> <a href="https://publications.waset.org/abstracts/148767/rare-case-of-pyoderma-gangrenosum-of-the-upper-limb" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/148767.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">91</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4455</span> Separation of Rare-Earth Metals from E-Wastes</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Gulsara%20%20Akanova">Gulsara Akanova</a>, <a href="https://publications.waset.org/abstracts/search?q=Akmaral%20Ismailova"> Akmaral Ismailova</a>, <a href="https://publications.waset.org/abstracts/search?q=Duisek%20Kamysbayev"> Duisek Kamysbayev</a> </p> <p class="card-text"><strong>Abstract:</strong></p> The separation of rare earth metals (REM) from a neodymium magnet has been widely studied in the last year. The waste of computer hard disk contains 25.41 % neodymium, 64.09 % iron, and <<1 % boron. To further the separation of rare-earth metals, the magnet dissolved in open and closed systems with nitric acid. In the closed system, the magnet was dissolved in a microwave sample preparation system at different temperatures and pressures and the dissolution process lasted 1 hour. In the open system, the acid dissolution of the magnet was conducted at room temperature and the process lasted 30-40 minutes. To remove the iron in the magnet, oxalic acid was used and precipitated as oxalates under both conditions. For separation of rare earth metals (Nd, Pr and Dy) from magnet waste is used sorption method. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=dissolution%20of%20the%20magnet" title="dissolution of the magnet">dissolution of the magnet</a>, <a href="https://publications.waset.org/abstracts/search?q=Neodymium%20magnet" title=" Neodymium magnet"> Neodymium magnet</a>, <a href="https://publications.waset.org/abstracts/search?q=rare%20earth%20metals" title=" rare earth metals"> rare earth metals</a>, <a href="https://publications.waset.org/abstracts/search?q=separation" title=" separation"> separation</a>, <a href="https://publications.waset.org/abstracts/search?q=Sorption" title=" Sorption"> Sorption</a> </p> <a href="https://publications.waset.org/abstracts/138763/separation-of-rare-earth-metals-from-e-wastes" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/138763.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">209</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4454</span> Advanced Eales’ Disease with Neovascular Glaucoma at First Presentation: Case Report</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Mohammed%20A.%20Alfayyadh">Mohammed A. Alfayyadh</a>, <a href="https://publications.waset.org/abstracts/search?q=Halla%20A.%20AlAbdulhadi"> Halla A. AlAbdulhadi</a>, <a href="https://publications.waset.org/abstracts/search?q=Mahdi%20H.%20Almubarak"> Mahdi H. Almubarak</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Purpose: Eales’ disease is an idiopathic vasculitis that affects the peripheral retina. It is characterized by recurrent vitreous hemorrhage as a complication of retinal neovascularization. It is more prevalent in India and affects young males. Here we present a patient with neovascular glaucoma as a rare first presentation of Eales’ disease. Observations: This is a 24-year-old Indian gentleman, who complained of a sudden decrease in vision in the left eye over less than 24 hours, along with frontal headache and eye pain for the last three weeks. Ocular examination revealed peripheral retinal ischemia in the right eye, very high intraocular pressure, rubeosis iridis, vitreous hemorrhage and extensive retinal ischemia in the left eye, vascular sheathing and neovascularization in both eyes. Purified protein derivative skin test was positive. The patient was managed with anti-glaucoma, intravitreal anti-vascular endothelial growth factor and laser photocoagulation. Systemic steroids and anti-tuberculous therapy were also initiated. Conclusions: Neovascular glaucoma is an infrequent complication of Eales’ disease. However, the lack of early detection of the disease in the early stages might lead to such serious complication. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=case%20report" title="case report">case report</a>, <a href="https://publications.waset.org/abstracts/search?q=Eales%E2%80%99%20disease" title=" Eales’ disease"> Eales’ disease</a>, <a href="https://publications.waset.org/abstracts/search?q=mycobacterium%20tuberculosis" title=" mycobacterium tuberculosis"> mycobacterium tuberculosis</a>, <a href="https://publications.waset.org/abstracts/search?q=neovascular%20glaucoma" title=" neovascular glaucoma"> neovascular glaucoma</a> </p> <a href="https://publications.waset.org/abstracts/138169/advanced-eales-disease-with-neovascular-glaucoma-at-first-presentation-case-report" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/138169.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">127</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4453</span> Proficient Estimation Procedure for a Rare Sensitive Attribute Using Poisson Distribution</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=S.%20Suman">S. Suman</a>, <a href="https://publications.waset.org/abstracts/search?q=G.%20N.%20Singh"> G. N. Singh </a> </p> <p class="card-text"><strong>Abstract:</strong></p> The present manuscript addresses the estimation procedure of population parameter using Poisson probability distribution when characteristic under study possesses a rare sensitive attribute. The generalized form of unrelated randomized response model is suggested in order to acquire the truthful responses from respondents. The resultant estimators have been proposed for two situations when the information on an unrelated rare non-sensitive characteristic is known as well as unknown. The properties of the proposed estimators are derived, and the measure of confidentiality of respondent is also suggested for respondents. Empirical studies are carried out in the support of discussed theory. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=Poisson%20distribution" title="Poisson distribution">Poisson distribution</a>, <a href="https://publications.waset.org/abstracts/search?q=randomized%20response%20model" title=" randomized response model"> randomized response model</a>, <a href="https://publications.waset.org/abstracts/search?q=rare%20sensitive%20attribute" title=" rare sensitive attribute"> rare sensitive attribute</a>, <a href="https://publications.waset.org/abstracts/search?q=non-sensitive%20attribute" title=" non-sensitive attribute"> non-sensitive attribute</a> </p> <a href="https://publications.waset.org/abstracts/95219/proficient-estimation-procedure-for-a-rare-sensitive-attribute-using-poisson-distribution" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/95219.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">266</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4452</span> Black Swans Public Administration and Informatics</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Anastasis%20Petrou">Anastasis Petrou</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Black Swan Theories (BSTs) have existed since the 2nd Century BC. However, problematisation in the interdisciplinary field of Public Administration and Informatics (PA&I) about the impact of Black Swans as rare events in Society is a more recent phenomenon but with a growing, although dispersed, body of research literature. This paper offers a synopsis of core issues and questions raised in PA&I literature about the impacts of rare events in Society, the need for knowledge accumulation and explainability processes about rare events and asks what could help explain the occurrence, severity, heterogeneity, overall impact of Black Swans and the challenges they represent to established scientific methods. The second part of the paper considers how the use of Artificial Intelligence (AI) could assist researchers in better explaining rare events in PA&I. However, the research shows that whilst AI use at the start of knowledge accumulation and explainability processes about rare events is beneficial it is also fraught with challenges discussed herein. The paper concludes with recommendations for future research. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=black%20swans" title="black swans">black swans</a>, <a href="https://publications.waset.org/abstracts/search?q=public%20administration" title=" public administration"> public administration</a>, <a href="https://publications.waset.org/abstracts/search?q=AI" title=" AI"> AI</a>, <a href="https://publications.waset.org/abstracts/search?q=informatics" title=" informatics"> informatics</a> </p> <a href="https://publications.waset.org/abstracts/192468/black-swans-public-administration-and-informatics" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/192468.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">15</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4451</span> The out of Proportion - Pulmonary Hypertension in Indians with Chronic Lung Disease</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=S.%20P.%20Chintan">S. P. Chintan</a>, <a href="https://publications.waset.org/abstracts/search?q=A.%20M.%20Khoja"> A. M. Khoja</a>, <a href="https://publications.waset.org/abstracts/search?q=M.%20Modi"> M. Modi</a>, <a href="https://publications.waset.org/abstracts/search?q=R.%20K.%20Chopra"> R. K. Chopra</a>, <a href="https://publications.waset.org/abstracts/search?q=S.%20Garde"> S. Garde</a>, <a href="https://publications.waset.org/abstracts/search?q=D.%20Jain"> D. Jain</a>, <a href="https://publications.waset.org/abstracts/search?q=O.%20Kajale"> O. Kajale</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Pulmonary Hypertension is a rare but debilitating disease that affects individuals of all ages and walks of life. As recent as 15 years ago, a patient diagnosed with PH was given an average survival rate of 2.8 years. Recent advances in treatment options have allowed patients to improve quality o and quantity of life. Initial screening for PH is through echocardiography with final diagnosis confirmed through right heart catheterization. PH is now considered to have five major classifications with subgroups among each. The mild to moderate PH is common in chronic lung diseases like Chronic obstructive pulmonary diseases and Interstitial lung disease. But very severe PH is noted in few cases. In COPD patients, PH is associated with an increased risk of severe exacerbations and a reduced life expectancy. Similarly, in patients with ILD, the presence of PH correlates with a poor prognosis. Early diagnosis is essential to slow disease progression. We report here five cases of severe PH (Out of Proportion) of which four cases were of COPD and another one of IPF (UIP pattern). There echocardiography showed gross RA/RV dilatation, interventricular septum bulging to the left and mPAP of more than 100 mmHg in all the five cases. These patients were put on LTOT, pulmonary rehabilitation, combination pharmacotherapy of vasodilators and diuretics in continuation to the treatment of underlying disease. As these patients have grave prognosis close monitoring and follow up is required. Physicians associated with respiratory care and treating chronic lung disease should have knowledge in the diagnosis and management of patients with PH. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=COPD" title="COPD">COPD</a>, <a href="https://publications.waset.org/abstracts/search?q=pulmonary%20hypertension" title=" pulmonary hypertension"> pulmonary hypertension</a>, <a href="https://publications.waset.org/abstracts/search?q=chronic%20lung%20disease" title=" chronic lung disease"> chronic lung disease</a>, <a href="https://publications.waset.org/abstracts/search?q=India" title=" India"> India</a> </p> <a href="https://publications.waset.org/abstracts/3773/the-out-of-proportion-pulmonary-hypertension-in-indians-with-chronic-lung-disease" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/3773.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">357</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4450</span> Fahr Dsease vs Fahr Syndrome in the Field of a Case Report</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Angelis%20P.%20Barlampas">Angelis P. Barlampas</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Objective: The confusion of terms is a common practice in many situations of the everyday life. But, in some circumstances, such as in medicine, the precise meaning of a word curries a critical role for the health of the patient. Fahr disease and Fahr syndrome are often falsely used interchangeably, but they are two different conditions with different physical histories of different etiology and different medical management. A case of the seldom Fahr disease is presented, and a comparison with the more common Fahr syndrome follows. Materials and method: A 72 years old patient came to the emergency department, complaining of some kind of non specific medal disturbances, like anxiety, difficulty of concentrating, and tremor. The problems had a long course, but he had the impression of getting worse lately, so he decided to check them. Past history and laboratory tests were unremarkable. Then, a computed tomography examination was ordered. Results: The CT exam showed bilateral, hyperattenuating areas of heavy, dense calcium type deposits in basal ganglia, striatum, pallidum, thalami, the dentate nucleus, and the cerebral white matter of frontal, parietal and iniac lobes, as well as small areas of the pons. Taking into account the absence of any known preexisting illness and the fact that the emergency laboratory tests were without findings, a hypothesis of the rare Fahr disease was supposed. The suspicion was confirmed with further, more specific tests, which showed the lack of any other conditions which could probably share the same radiological image. Differentiating between Fahr disease and Fahr syndrome. Fahr disease: Primarily autosomal dominant Symmetrical and bilateral intracranial calcifications The patient is healthy until the middle age Absence of biochemical abnormalities. Family history consistent with autosomal dominant Fahr syndrome :Earlier between 30 to 40 years old. Symmetrical and bilateral intracranial calcifications Endocrinopathies: Idiopathic hypoparathyroidism, secondary hypoparathyroidism, hyperparathyroidism, pseudohypoparathyroidism ,pseudopseudohypoparathyroidism, e.t.c The disease appears at any age There are abnormal laboratory or imaging findings. Conclusion: Fahr disease and Fahr syndrome are not the same illness, although this is not well known to the inexperienced doctors. As clinical radiologists, we have to inform our colleagues that a radiological image, along with the patient's history, probably implies a rare condition and not something more usual and prompt the investigation to the right route. In our case, a genetic test could be done earlier and reveal the problem, and thus avoiding unnecessary and specific tests which cost in time and are uncomfortable to the patient. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=fahr%20disease" title="fahr disease">fahr disease</a>, <a href="https://publications.waset.org/abstracts/search?q=fahr%20syndrome" title=" fahr syndrome"> fahr syndrome</a>, <a href="https://publications.waset.org/abstracts/search?q=CT" title=" CT"> CT</a>, <a href="https://publications.waset.org/abstracts/search?q=brain%20calcifications" title=" brain calcifications"> brain calcifications</a> </p> <a href="https://publications.waset.org/abstracts/169794/fahr-dsease-vs-fahr-syndrome-in-the-field-of-a-case-report" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/169794.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">62</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4449</span> Phenotypic and Genotypic Diagnosis of Gaucher Disease in Algeria</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=S.%20Hallal">S. Hallal</a>, <a href="https://publications.waset.org/abstracts/search?q=Z.%20Chami"> Z. Chami</a>, <a href="https://publications.waset.org/abstracts/search?q=A.%20Hadji-Lehtihet"> A. Hadji-Lehtihet</a>, <a href="https://publications.waset.org/abstracts/search?q=S.%20Sokhal-Boudella"> S. Sokhal-Boudella</a>, <a href="https://publications.waset.org/abstracts/search?q=A.%20Berhoune"> A. Berhoune</a>, <a href="https://publications.waset.org/abstracts/search?q=L.%20Yargui"> L. Yargui</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Gaucher disease is the most common lysosomal storage in our population, it is due to a deficiency of β –glucosidase acid. The enzyme deficiency causes a pathological accumulation of undegraded substrate in lysosomes. This metabolic overload is responsible for a multisystemic disease with hepatosplenomegaly, anemia, thrombocytopenia, and bone involvement. Neurological involvement is rare. The laboratory diagnosis of Gaucher disease consists of phenotypic diagnosis by determining the enzymatic activity of β - glucosidase by fluorimetric method, a study by genotypic diagnosis in the GBA gene, limiting the search recurrent mutations (N370S, L444P, 84 GG); PCR followed by an enzymatic digestion. Abnormal profiles were verified by sequencing. Monitoring of treated patients is provided by the determination of chitotriosidase. Our experience spaning a period of 6 years (2007-2014) has enabled us to diagnose 78 patients out of a total of 328 requests from the various departments of pediatrics, internal medicine, neurology. Genotypic diagnosis focused on the entire family of 9 children treated at pediatric CHU Mustapha, which help define the clinical form; or 5 of them had type III disease, carrying the L444P mutation in the homozygous state. Three others were composite (N370/L444P) (N370S/other unintended mutation in our study), and only in one family no recurrent mutation has been found. This molecular study permits screening of heterozygous essential for genetic counseling. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=Gaucher%20disease" title="Gaucher disease">Gaucher disease</a>, <a href="https://publications.waset.org/abstracts/search?q=mutations" title=" mutations"> mutations</a>, <a href="https://publications.waset.org/abstracts/search?q=N370S" title=" N370S"> N370S</a>, <a href="https://publications.waset.org/abstracts/search?q=L444P" title=" L444P"> L444P</a> </p> <a href="https://publications.waset.org/abstracts/17819/phenotypic-and-genotypic-diagnosis-of-gaucher-disease-in-algeria" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/17819.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">405</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4448</span> Flotation of Rare Earth Oxides from Iron-Oxide Silicate Rich Tailings Using Fatty Acids</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=George%20B.%20Abaka-Wood">George B. Abaka-Wood</a>, <a href="https://publications.waset.org/abstracts/search?q=Massimiliano%20%20Zanin"> Massimiliano Zanin</a>, <a href="https://publications.waset.org/abstracts/search?q=Jonas%20Addai-Mensah"> Jonas Addai-Mensah</a>, <a href="https://publications.waset.org/abstracts/search?q=William%20Skinner"> William Skinner</a> </p> <p class="card-text"><strong>Abstract:</strong></p> The versatility of froth flotation has made it vital in the beneficiation of rare earth elements minerals from either high or low-grade ores. There has been a significant increase in the quantity of iron oxide silicate-rich tailings generated from the extraction of primary commodities such as copper and gold in Australia, which have been identified to contain very low-grade rare earth oxides (≤ 1%). There is a vast knowledge gap in the beneficiation of rare earth oxides from such tailings. The aim of this research is to investigate the feasibility of using fatty acids as collectors for the flotation recovery and upgrade of rare earth oxides from selected iron-oxide silicate-rich tailings. Two forms of fatty acid collectors (oleic acid and sodium oleate) were tested in this investigation. Flotation tests were carried out using a 1.2 L Denver D-12 cell. The effects of pulp pH, fatty acid dosage, particle size distribution (-150 +75 µm, -75 +38 µm and -38 µm) and conventional depressants (sodium silicate and starch) dosage on flotation recovery of rare earth oxides were investigated. A comparison of the flotation results indicated that sodium oleate was the more efficient fatty acid for rare earth oxides flotation at all the pulp pH investigated. The flotation performance was found to be particle size-dependent. Both sodium silicate and starch were unselective in decreasing the recovery of iron oxides and silicate minerals, respectively with the corresponding decrease in rare earth oxides recovery. Generally, iron oxides and silicate minerals formed the substantial fraction of the flotation concentrates obtained, both in the absence and presence of depressants, resulting in a generally low rare earth oxides upgrade, even though rare earth oxides recoveries were high. The flotation tests carried out on the tailings sample suggest the feasibility of rare earth oxides recovery using fatty acids, although particle size distribution and minerals liberation are key limiting factors in achieving selective rare earth oxides upgrade. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=depressants" title="depressants">depressants</a>, <a href="https://publications.waset.org/abstracts/search?q=flotation" title=" flotation"> flotation</a>, <a href="https://publications.waset.org/abstracts/search?q=oleic%20acid" title=" oleic acid"> oleic acid</a>, <a href="https://publications.waset.org/abstracts/search?q=sodium%20oleate" title=" sodium oleate"> sodium oleate</a> </p> <a href="https://publications.waset.org/abstracts/97243/flotation-of-rare-earth-oxides-from-iron-oxide-silicate-rich-tailings-using-fatty-acids" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/97243.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">189</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4447</span> The GRIT Study: Getting Global Rare Disease Insights Through Technology Study</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Aneal%20Khan">Aneal Khan</a>, <a href="https://publications.waset.org/abstracts/search?q=Elleine%20Allapitan"> Elleine Allapitan</a>, <a href="https://publications.waset.org/abstracts/search?q=Desmond%20Koo"> Desmond Koo</a>, <a href="https://publications.waset.org/abstracts/search?q=Katherine-Ann%20Piedalue"> Katherine-Ann Piedalue</a>, <a href="https://publications.waset.org/abstracts/search?q=Shaneel%20Pathak"> Shaneel Pathak</a>, <a href="https://publications.waset.org/abstracts/search?q=Utkarsh%20Subnis"> Utkarsh Subnis</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Background: Disease management of metabolic, genetic disorders is long-term and can be cumbersome to patients and caregivers. Patient-Reported Outcome Measures (PROMs) have been a useful tool in capturing patient perspectives to help enhance treatment compliance and engagement with health care providers, reduce utilization of emergency services, and increase satisfaction with their treatment choices. Currently, however, PROMs are collected during infrequent and decontextualized clinic visits, which makes translation of patient experiences challenging over time. The GRIT study aims to evaluate a digital health journal application called Zamplo that provides a personalized health diary to record self-reported health outcomes accurately and efficiently in patients with metabolic, genetic disorders. Methods: This is a randomized controlled trial (RCT) (1:1) that assesses the efficacy of Zamplo to increase patient activation (primary outcome), improve healthcare satisfaction and confidence to manage medications (secondary outcomes), and reduce costs to the healthcare system (exploratory). Using standardized online surveys, assessments will be collected at baseline, 1 month, 3 months, 6 months, and 12 months. Outcomes will be compared between patients who were given access to the application versus those with no access. Results: Seventy-seven patients were recruited as of November 30, 2021. Recruitment for the study commenced in November 2020 with a target of n=150 patients. The accrual rate was 50% from those eligible and invited for the study, with the majority of patients having Fabry disease (n=48) and the remaining having Pompe disease and mitochondrial disease. Real-time clinical responses, such as pain, are being measured and correlated to disease-modifying therapies, supportive treatments like pain medications, and lifestyle interventions. Engagement with the application, along with compliance metrics of surveys and journal entries, are being analyzed. An interim analysis of the engagement data along with preliminary findings from this pilot RCT, and qualitative patient feedback will be presented. Conclusions: The digital self-care journal provides a unique approach to disease management, allowing patients direct access to their progress and actively participating in their care. Findings from the study can help serve the virtual care needs of patients with metabolic, genetic disorders in North America and the world over. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=eHealth" title="eHealth">eHealth</a>, <a href="https://publications.waset.org/abstracts/search?q=mobile%20health" title=" mobile health"> mobile health</a>, <a href="https://publications.waset.org/abstracts/search?q=rare%20disease" title=" rare disease"> rare disease</a>, <a href="https://publications.waset.org/abstracts/search?q=patient%20outcomes" title=" patient outcomes"> patient outcomes</a>, <a href="https://publications.waset.org/abstracts/search?q=quality%20of%20life%20%28QoL%29" title=" quality of life (QoL)"> quality of life (QoL)</a>, <a href="https://publications.waset.org/abstracts/search?q=pain" title=" pain"> pain</a>, <a href="https://publications.waset.org/abstracts/search?q=Fabry%20disease" title=" Fabry disease"> Fabry disease</a>, <a href="https://publications.waset.org/abstracts/search?q=Pompe%20disease" title=" Pompe disease"> Pompe disease</a> </p> <a href="https://publications.waset.org/abstracts/144816/the-grit-study-getting-global-rare-disease-insights-through-technology-study" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/144816.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">151</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4446</span> Rare Earth Element (REE) Geochemistry of Tepeköy Sandstones (Central Anatolia, Turkey)</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Mehmet%20Yavuz%20H%C3%BCseyinca">Mehmet Yavuz Hüseyinca</a>, <a href="https://publications.waset.org/abstracts/search?q=%C5%9Euayip%20K%C3%BCpeli"> Şuayip Küpeli</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Sandstones from Upper Eocene - Oligocene Tepeköy formation (Member of Mezgit Group) that exposed on the eastern edge of Tuz Gölü (Salt Lake) were analyzed for their rare earth element (REE) contents. Average concentrations of ΣREE, ΣLREE (Total light rare earth elements) and ΣHREE (Total heavy rare earth elements) were determined as 31.37, 26.47 and 4.55 ppm respectively. These values are lower than UCC (Upper continental crust) which indicates grain size and/or CaO dilution effect. The chondrite-normalized REE pattern is characterized by the average ratios of (La/Yb)cn = 6.20, (La/Sm)cn = 4.06, (Gd/Lu)cn = 1.10, Eu/Eu* = 0.99 and Ce/Ce* = 0.94. Lower values of ΣLREE/ΣHREE (Average 5.97) and (La/Yb)cn suggest lower fractionation of overall REE. Moreover (La/Sm)cn and (Gd/Lu)cn ratios define less inclined LREE and almost flat HREE pattern when compared with UCC. Almost no Ce anomaly (Ce/Ce*) emphasizes that REE were originated from terrigenous material. Also depleted LREE and no Eu anomaly (Eu/Eu*) suggest an undifferentiated mafic provenance for the sandstones. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=central%20Anatolia" title="central Anatolia">central Anatolia</a>, <a href="https://publications.waset.org/abstracts/search?q=provenance" title=" provenance"> provenance</a>, <a href="https://publications.waset.org/abstracts/search?q=rare%20earth%20elements" title=" rare earth elements"> rare earth elements</a>, <a href="https://publications.waset.org/abstracts/search?q=REE" title=" REE"> REE</a>, <a href="https://publications.waset.org/abstracts/search?q=Tepek%C3%B6y%20sandstone" title=" Tepeköy sandstone"> Tepeköy sandstone</a> </p> <a href="https://publications.waset.org/abstracts/31994/rare-earth-element-ree-geochemistry-of-tepekoy-sandstones-central-anatolia-turkey" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/31994.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">475</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4445</span> Diagnosis, Treatment, and Prognosis in Cutaneous Anaplastic Lymphoma Kinase-Positive Anaplastic Large Cell Lymphoma: A Narrative Review Apropos of a Case</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Laura%20Gleason">Laura Gleason</a>, <a href="https://publications.waset.org/abstracts/search?q=Sahithi%20Talasila"> Sahithi Talasila</a>, <a href="https://publications.waset.org/abstracts/search?q=Lauren%20Banner"> Lauren Banner</a>, <a href="https://publications.waset.org/abstracts/search?q=Ladan%20Afifi"> Ladan Afifi</a>, <a href="https://publications.waset.org/abstracts/search?q=Neda%20Nikbakht"> Neda Nikbakht</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Primary cutaneous anaplastic large cell lymphoma (pcALCL) accounts for 9% of all cutaneous T-cell lymphomas. pcALCL is classically characterized as a solitary papulonodule that often enlarges, ulcerates, and can be locally destructive, but overall exhibits an indolent course with overall 5-year survival estimated to be 90%. Distinguishing pcALCL from systemic ALCL (sALCL) is essential as sALCL confers a poorer prognosis with average 5-year survival being 40-50%. Although extremely rare, there have been several cases of ALK-positive ALCL diagnosed on skin biopsy without evidence of systemic involvement, which poses several challenges in the classification, prognostication, treatment, and follow-up of these patients. Objectives: We present a case of cutaneous ALK-positive ALCL without evidence of systemic involvement, and a narrative review of the literature to further characterize that ALK-positive ALCL limited to the skin is a distinct variant with a unique presentation, history, and prognosis. A 30-year-old woman presented for evaluation of an erythematous-violaceous papule present on her right chest for two months. With the development of multifocal disease and persistent lymphadenopathy, a bone marrow biopsy and lymph node excisional biopsy were performed to assess for systemic disease. Both biopsies were unrevealing. The patient was counseled on pursuing systemic therapy consisting of Brentuximab, Cyclophosphamide, Doxorubicin, and Prednisone given the concern for sALCL. Apropos of the patient we searched for clinically evident, cutaneous ALK-positive ALCL cases, with and without systemic involvement, in the English literature. Risk factors, such as tumor location, number, size, ALK localization, ALK translocations, and recurrence, were evaluated in cases of cutaneous ALK-positive ALCL. The majority of patients with cutaneous ALK-positive ALCL did not progress to systemic disease. The majority of cases that progressed to systemic disease in adults had recurring skin lesions and cytoplasmic localization of ALK. ALK translocations did not influence disease progression. Mean time to disease progression was 16.7 months, and significant mortality (50%) was observed in those cases that progressed to systemic disease. Pediatric cases did not exhibit a trend similar to adult cases. In both the adult and pediatric cases, a subset of cutaneous-limited ALK-positive ALCL were treated with chemotherapy. All cases treated with chemotherapy did not progress to systemic disease. Apropos of an ALK-positive ALCL patient with clinical cutaneous limited disease in the histologic presence of systemic markers, we discussed the literature data, highlighting the crucial issues related to developing a clinical strategy to approach this rare subtype of ALCL. Physicians need to be aware of the overall spectrum of ALCL, including cutaneous limited disease, systemic disease, disease with NPM-ALK translocation, disease with ALK and EMA positivity, and disease with skin recurrence. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=anaplastic%20large%20cell%20lymphoma" title="anaplastic large cell lymphoma">anaplastic large cell lymphoma</a>, <a href="https://publications.waset.org/abstracts/search?q=systemic" title=" systemic"> systemic</a>, <a href="https://publications.waset.org/abstracts/search?q=cutaneous" title=" cutaneous"> cutaneous</a>, <a href="https://publications.waset.org/abstracts/search?q=anaplastic%20lymphoma%20kinase" title=" anaplastic lymphoma kinase"> anaplastic lymphoma kinase</a>, <a href="https://publications.waset.org/abstracts/search?q=ALK" title=" ALK"> ALK</a>, <a href="https://publications.waset.org/abstracts/search?q=ALCL" title=" ALCL"> ALCL</a>, <a href="https://publications.waset.org/abstracts/search?q=sALCL" title=" sALCL"> sALCL</a>, <a href="https://publications.waset.org/abstracts/search?q=pcALCL" title=" pcALCL"> pcALCL</a>, <a href="https://publications.waset.org/abstracts/search?q=cALCL" title=" cALCL"> cALCL</a> </p> <a href="https://publications.waset.org/abstracts/152761/diagnosis-treatment-and-prognosis-in-cutaneous-anaplastic-lymphoma-kinase-positive-anaplastic-large-cell-lymphoma-a-narrative-review-apropos-of-a-case" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/152761.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">83</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4444</span> A Rare Case Report of Non-Langerhans Cell Cutaneous Histiocytosis in a 6-Month Old Infant</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Apoorva%20D.%20R.">Apoorva D. R.</a> </p> <p class="card-text"><strong>Abstract:</strong></p> INTRODUCTION: Hemophagocytic lymphohistiocytosis (HLH) is a severe, potentially fatal syndrome in which there is excessive immune activation. The disease is seen in children and people of all ages, but infants from birth to 18 months are most frequently affected. HLH is a sporadic or familial condition that can be triggered by various events that disturb immunological homeostasis. In cases with a genetic predisposition and sporadic occurrences, infection is a frequent trigger. Because of the rarity of this disease, the diverse clinical presentation, and the lack of specificity in the clinical and laboratory results, prompt treatment is essential, but the biggest obstacle to a favorable outcome is frequently a delay in identification. CASE REPORT: Here we report a case of a 6-month-old male infant who presented to the dermatology outpatient with disseminated skin lesions present over the face, abdomen, scalp, and bilateral upper and lower limbs for the past month. The lesions were insidious in onset, initially started over the abdomen, and gradually progressed to involve other body parts. The patient also had a history of fever which was moderate in grade, on and off in nature for 1 month. There were no significant complaints in the past, family, or drug history. There was no history of feeding difficulties in the baby. Parents gave a history of developmental milestones appropriate for age. Examination findings include multiple well-defined monomorphic erythematous papules with a central crater present over bilateral cheeks. Few lichenoid shiny papules present over bilateral arms, legs, and abdomen. Ultrasound of the abdomen and pelvis showed mild degree hepatosplenomegaly, intraabdominal lymphadenopathy, and bilateral inguinal lymphadenopathy. Routine blood investigations showed anemia and lymphopenia. Multiple X-rays of the skull, chest, and bilateral upper and lower limbs were done and were normal. Histopathology features were suggestive of non-Langerhans cell cutaneous histiocytosis. CONCLUSION: HLH is a fatal and rare disease. A high level of suspicion and an interdisciplinary approach among experienced clinicians, pathologists, and microbiologists to define the diagnosis and causative disease are key to diagnosing this case. Early detection and treatment can reduce patient morbidity and mortality. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=histiocytosis" title="histiocytosis">histiocytosis</a>, <a href="https://publications.waset.org/abstracts/search?q=non%20langerhans%20cell" title=" non langerhans cell"> non langerhans cell</a>, <a href="https://publications.waset.org/abstracts/search?q=case%20report" title=" case report"> case report</a>, <a href="https://publications.waset.org/abstracts/search?q=fatal" title=" fatal"> fatal</a>, <a href="https://publications.waset.org/abstracts/search?q=rare" title=" rare"> rare</a> </p> <a href="https://publications.waset.org/abstracts/156435/a-rare-case-report-of-non-langerhans-cell-cutaneous-histiocytosis-in-a-6-month-old-infant" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/156435.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">88</span> </span> </div> </div> <ul class="pagination"> <li class="page-item disabled"><span class="page-link">&lsaquo;</span></li> <li class="page-item active"><span class="page-link">1</span></li> <li class="page-item"><a class="page-link" href="https://publications.waset.org/abstracts/search?q=rare%20disease&page=2">2</a></li> <li class="page-item"><a class="page-link" href="https://publications.waset.org/abstracts/search?q=rare%20disease&page=3">3</a></li> <li class="page-item"><a class="page-link" href="https://publications.waset.org/abstracts/search?q=rare%20disease&page=4">4</a></li> <li class="page-item"><a class="page-link" href="https://publications.waset.org/abstracts/search?q=rare%20disease&page=5">5</a></li> <li class="page-item"><a class="page-link" href="https://publications.waset.org/abstracts/search?q=rare%20disease&page=6">6</a></li> <li class="page-item"><a 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