Rare最新文献

{"title":"Unmasking the invisible: Complex lymphatic anomaly uncovered by bilateral chylothorax","authors":"H. Ikrou ,&nbsp;A. Ibenyahia ,&nbsp;N. Boutbagha ,&nbsp;M. Hachmi ,&nbsp;M. Makloul ,&nbsp;F. Ammor ,&nbsp;I. lefquih ,&nbsp;M. Maidi ,&nbsp;S. Wakrim ,&nbsp;O. Halloumi ,&nbsp;S. Abdala ,&nbsp;H. Serhane","doi":"10.1016/j.rare.2024.100047","DOIUrl":"10.1016/j.rare.2024.100047","url":null,"abstract":"<div><div>Complex lymphatic anomalies (CLA) are an extremely rare group of disorders resulting from embryogenic lymphatic malformations that are characterized by overlapping clinical, anatomic location, imaging features, and complications. Due to their low incidence, these conditions are often reported in case studies and small series Chylothorax, or the accumulation of chyle in the pleural space, is a rare condition typically resulting from thoracic duct rupture or interruption. In CLA, it is one of the most frequent complications that reveal this pathology. It may occur as a result of the involvement of the lymphatic vessels of the pleura or thoracic duct by adjacent osteolysis. Some of the diagnoses include Gorham Stout disease and generalized lymphatic anomaly, which can be differentiated mostly by analyzing the imaging patterns of bone lesions. Diagnosis is based on clinical, analytical, radiological, and histopathological findings. We are reporting a case of a young 22-year-old female that presented with acute bilateral chylothorax with secondary to CLA. The diagnosis was confirmed through radiological findings using the non contrast MR lymphography, that revealed the presence of lymphatic malformations that were responsable for lytic bone lesions, and a splenic cystic lesion that was also compatible with the diagnosis, that was later on confirmed by histopathological of the pleural tissu,. This report aims to increase awareness and improve diagnostic approach of CLA, emphasizing the role of comprehensive imaging.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100047"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142416946","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel homozygous frameshift variant in SPTBN4 causes axonal neuropathy with intellectual disability in a consanguineous family","authors":"Rabab Ibrahim ,&nbsp;Ghazala Zafar ,&nbsp;Shafaq Ramzan ,&nbsp;Hijab Zahra ,&nbsp;Asmat Ali ,&nbsp;Shahnaz Ibrahim ,&nbsp;Mathias Toft ,&nbsp;Zafar Iqbal ,&nbsp;Ambrin Fatima","doi":"10.1016/j.rare.2024.100037","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100037","url":null,"abstract":"<div><h3>Introduction</h3><p>Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519) is an autosomal recessive condition arising from variations in the <em>SPTBN4</em> gene. This gene codes for βIV-spectrin, a non-erythrocytic member of the β-spectrin family. Homozygous variants in <em>SPTBN4</em> disrupt the cytoskeletal machinery responsible for localization of ion channels and functioning of axonal domains, leading to neurological dysfunction.</p></div><div><h3>Case presentation</h3><p>Here, we report three siblings with a homozygous frameshift indel c.1799–1800delGC in the <em>SPTBN4</em>, all presenting with severe muscular hypotonia, dysphagia, absent or limited speech, delayed gross motor development, global developmental delay, and intellectual disability. This condition has been associated with numerous secondary features.</p></div><div><h3>Conclusion</h3><p>The phenotype reported in our family contributes to establishing the core symptoms associated with mutations in <em>SPTBN4</em>, with varying levels of developmental delay, intellectual disability, limited speech, and congenital hypotonia.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100037"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000206/pdfft?md5=4070b94c4c5a287e3117999f7349b86a&pid=1-s2.0-S2950008724000206-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141593402","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mitchell-Riley Syndrome: A rare genetic disorder, case report","authors":"Shria Sadhu,&nbsp;Nibal Albitar,&nbsp;Mai AlKhouly,&nbsp;Aqeel Farooque","doi":"10.1016/j.rare.2024.100042","DOIUrl":"10.1016/j.rare.2024.100042","url":null,"abstract":"<div><p>Mitchell-Riley Syndrome (MRS), is a rare autosomal recessive genetic disorder due to recessive mutations of the <em>RFX6 gene</em>. It has a distinct clinical phenotype marked by neonatal diabetes and chronic diarrhoea, accompanied by various anomalies within the digestive system such as intestinal atresia/malrotation, pancreatic hypoplasia, biliary atresia, and gallbladder aplasia or hypoplasia, with or without cholestasis. Early identification will prompt the physician toward a genetic diagnosis, aggressive clinical management, and family counselling. We report a case of a male infant with neonatal diabetes and intestinal obstruction, with genetically confirmed RFX6 missense homozygous variant. Though our infant ultimately succumbed to gram positive <em>(Staphylococcus epidermidis)</em> septicaemia originating from an infected central venous catheter, multidisciplinary and intensive disease management overall improves the clinical outcome in patients with Mitchell-Riley Syndrome. This includes tailored parenteral/oral nutrition and the use of advanced diabetes technologies. This rare syndrome is usually fatal, with death within the first year of life in the majority of reported cases. Clinicians should consider the possibility of this rarely reported syndrome in the diagnosis of a newborn that presents with hyperglycaemia along with intestinal atresia and/or progressive cholestasis. A better understanding of RFX6 function among both intestine and pancreas cells is essential for the identification of using new drugs that could modulate the enteroendocrine system.</p></div><div><h3>Level of clinical evidence</h3><p>4</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100042"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000255/pdfft?md5=63dee1ee5d8ba096605a1da65596656d&pid=1-s2.0-S2950008724000255-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142083967","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"FDA approves leniolisib (Joenja) as the first treatment for APDS: A breaththrough in the field of immunology","authors":"Muhammad Talha ,&nbsp;Mohammad Haris Ali","doi":"10.1016/j.rare.2024.100028","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100028","url":null,"abstract":"<div><p>Activated PI3K delta Syndrome (APDS) is a rare genetic heterogeneous disorder initially identified in 2013. The primary cause of APDS is an immune imbalance leading to immune deficiency and dysregulation. Symptoms of APDS are diverse primarily including recurrent respiratory infections and increased predisposition to lymphoma. The disease is challenging to diagnose as patients are often misdiagnosed. Genetic testing can be used to make a confirmatory diagnosis. There were no FDA-approved treatments specifically targeting the root cause of APDS, PI3Kδ until the recent promising outcomes seen in the clinical trials of leniolisib. However, long term effects of the drug remain a concern as further research is required.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100028"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000115/pdfft?md5=5984d6b8b2005a4a91468299407bac0a&pid=1-s2.0-S2950008724000115-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140554814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Economics, externalities and rare disease","authors":"Carlisle Ford Runge ,&nbsp;James Campbell ,&nbsp;Carlisle P. Runge ,&nbsp;Reena V. Kartha","doi":"10.1016/j.rare.2024.100036","DOIUrl":"10.1016/j.rare.2024.100036","url":null,"abstract":"<div><p>Special combined efforts addressing rare diseases should apply economic principles and methods to maximize returns to research and investment. Four opportunities exist: (1) exploiting treatment spillovers; (2) encouraging institutional networking and knowledge-sharing; (3) recognizing shared molecular and genetic etiologies; (4) organizing resulting clusters and baskets for scaling trials, research, diagnosis and treatment.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100036"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S295000872400019X/pdfft?md5=e96d4097c41e3bb196c6eadec23f730a&pid=1-s2.0-S295000872400019X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141399069","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare disease care in Europe – Gaping unmet needs","authors":"Philippe Pakter","doi":"10.1016/j.rare.2024.100018","DOIUrl":"10.1016/j.rare.2024.100018","url":null,"abstract":"<div><p>In Europe, which provides its citizens with the highest level of social protection in the world, the needs of rare disease patients remain fundamentally unmet. The overwhelming majority of rare diseases still have no treatment or cure; infant mortality is unspeakably high; and when a safe and effective rare disease treatment is developed, patient access can vary dramatically from one EU Member State to the next, raising basic questions of health equity. The goal of this article is to advocate for an ambitious and far-reaching reform of the EU’s Orphan Drug Regulation framework, by showing how very difficult things are for Europe’s rare disease patients, in so many different ways, and on so many different levels.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100018"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000012/pdfft?md5=5ae0dfbdb5da4406c14b01193eae3764&pid=1-s2.0-S2950008724000012-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139538742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retinal vasculopathy with cerebral leukoencephalopathy with TREX1 mutation: a rare entity with a new mutation","authors":"Michela Giacoma Pin ,&nbsp;Lucia Corrado ,&nbsp;Gionata Strigaro ,&nbsp;Andrea Bianco ,&nbsp;Mattia Bellan ,&nbsp;Claudio Musetti ,&nbsp;Letizia Mazzini ,&nbsp;Roberto Cantello ,&nbsp;Sandra D’Alfonso ,&nbsp;Domizia Vecchio","doi":"10.1016/j.rare.2024.100032","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100032","url":null,"abstract":"<div><p>Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare autosomal dominant vasculopathy caused by heterozygous C-terminal truncating mutations in three-prime repair exonuclease (<em>TREX1</em>) gene. The clinical spectrum includes vascular retinopathy, focal brain dysfunctions and other systemic manifestations, including Raynaud phenomenon, anemia with gastrointestinal bleeding, hypothyroidism and liver and kidney diseases. We report the case of a 46-year-old Italian man with RVCL-S, initially misdiagnosed as glioma or cerebral lymphoma. The patient presented with a 5-day history of mild ideo-motor slowdown, subacute mild left hemiparesis and dysarthric speech. Brain magnetic resonance imaging (MRI) showed a right temporo-insular large lesion with surrounding edema and inhomogeneous enhancement. One month later he presented focal motor seizures to his left side with subsequent generalization. He repeated a brain MRI showing a dimensional increase of the lesion (restricted at diffusion weighted imaging and enhanced peripherally). Medical history included microvascular liver disease, microvascular kidney disease, anemia, and scleroderma with Raynaud’s phenomenon. On oral steroids, a third brain MRI demonstrated volumetric reduction of the lesion with small nodular enhancement. Considering the pseudotumoral brain onset and the multisystemic involvement, RVCL-S was suspected and genetic analysis confirmed the presence of the new heterozygous mutation p.S267Qfs*57 in the C-terminal of the <em>TREX1</em> gene.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100032"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000152/pdfft?md5=6af9ff278294d83544c534f50b6d86b3&pid=1-s2.0-S2950008724000152-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140879899","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recurrent GIST and pulmonary chondroid hamartoma: Case report of incomplete Carney triad","authors":"B.P.C. Hoppe ,&nbsp;A.J. Breugom ,&nbsp;H. Dik","doi":"10.1016/j.rare.2024.100038","DOIUrl":"10.1016/j.rare.2024.100038","url":null,"abstract":"<div><p>The Carney triad describes the association of chondroid hamartoma, GIST (gastrointestinal stromal tumor) and paraganglioma. The Carney triad affects mainly (young) women, is not inherited and probably caused by deficiency of the succinate dehydrogenase (SDH) enzyme. Deficiency of SDH-enzyme leads to hypermethylation of the whole genome in Carney triad associated tumors. This case demonstrates a woman with an incomplete Carney triad presenting with a recurrent GIST and symptomatic giant pulmonary chondroid hamartoma.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100038"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000218/pdfft?md5=60198de33329fec206695b252062d6d6&pid=1-s2.0-S2950008724000218-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141952897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The power of diversity!","authors":"Helene Cederroth ,&nbsp;Barbara Cellini ,&nbsp;Claudia Gonzaga-Jauregui ,&nbsp;Jinming Han ,&nbsp;Muhammad Umair ,&nbsp;Elizabeth Palmer ,&nbsp;Wendy van Zelst-Stams","doi":"10.1016/j.rare.2024.100024","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100024","url":null,"abstract":"","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100024"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000073/pdfft?md5=5b629040e209409bb8885b2f0e9c1bab&pid=1-s2.0-S2950008724000073-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139976128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Addressing challenges in diagnosis and management of rare disease through interprofessional education","authors":"Ron Helderman ,&nbsp;Carolyn M. Macica ,&nbsp;Adam Weinstein ,&nbsp;Richard Feinn ,&nbsp;Maya Doyle","doi":"10.1016/j.rare.2024.100044","DOIUrl":"10.1016/j.rare.2024.100044","url":null,"abstract":"<div><p>Rare diseases represent a significant public health challenge due to their complexity and lack of resources. One way to improve care for patients with rare disease is to educate healthcare professionals on the diverse and unique needs of patients with rare disorders. An interprofessional education (IPE) event was created for healthcare students based on the Interprofessional Education Collaborative’s ‘IPE Core Competencies', mainly targeting two specific competencies: (1) interprofessional communication and (2) teams and teamwork. The IPE event included direct instruction, case-based learning, and narrative medicine components using the rare disease nephropathic cystinosis as a model of a rare complex disorder. Pre- and post-event survey data were collected to assess the participants' knowledge acquisition and perceived confidence in caring for patients with a rare disease as part of an interprofessional healthcare team and included open-ended questions regarding qualities of an interprofessional team member, and key takeaways from the event. Enrollment included 163 graduate-level healthcare students from nine different disciplines. The survey data showed improved understanding of the importance of rare disease research (<em>p &lt;</em> 0.001), ability to identify supportive resources for patients (<em>p &lt;</em> 0.001), confidence in being part of an interprofessional team caring for a patient with rare disease (<em>p &lt;</em> 0.001) and value of education about rare disease (<em>p</em> = 0.009). When asked to describe features of effective interprofessional teams, common traits included strong communication skills, empathy, compassion, understanding, collaboration, and respect. This work demonstrates that utilizing an interprofessional model in educating health professional students about rare diseases successfully enhanced learners’ confidence in their ability to be part of an interprofessional team caring for patients and families impacted by rare disease, and given the total prevalence of rare diseases, may have a significant impact on healthcare as a whole.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100044"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000279/pdfft?md5=1d84a12ec1c393d97e841dacc554f6e6&pid=1-s2.0-S2950008724000279-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142169412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}