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Consensus recommendation for the treatment of generalised Myasthenia Gravis with anti-acetylcholine receptor antibodies (gMG AChR+) in Spain 西班牙对抗乙酰胆碱受体抗体（gMG AChR+）治疗广泛性重症肌无力的共识建议

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2024.100051

Elena Cortés-Vicente , Raquel Hernández , Eva Martínez , Julio Pardo , Francisco Javier Rodríguez de Rivera , on behalf of the Neuromuscular Diseases Study Group (GEEN) of the Spanish Society of Neurology

引用次数: 0

Realising the potential impact of artificial intelligence for rare diseases – A framework 实现人工智能对罕见疾病的潜在影响——一个框架

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2024.100057

Tudor Groza , Chun-Hung Chan , David A. Pearce , Gareth Baynam

{"title":"Realising the potential impact of artificial intelligence for rare diseases – A framework","authors":"Tudor Groza , Chun-Hung Chan , David A. Pearce , Gareth Baynam","doi":"10.1016/j.rare.2024.100057","DOIUrl":"10.1016/j.rare.2024.100057","url":null,"abstract":"<div><div>Rare diseases (RD) are conditions affecting fewer than 1 in 2000 persons, with over 7000 largely genetic RDs affecting 3.5 %-5.9 % of the global population, or approximately 262.9–446.2 million people. The substantial healthcare burden and costs, such as the $1 trillion annual expense in the USA, highlight the urgent need for improved RD management. The International Rare Diseases Research Consortium (IRDiRC) addresses this need through global collaboration, aiming for timely and accurate diagnosis, development of 1000 new therapies, and methodologies to measure impact by 2027.</div><div>IRDiRC's initiatives include biannual meetings and workshops, like the AI-focused workshop in October 2023. This identified AI as crucial for advancing RD research and proposed a Framework for AI to enhance the RD patient journey by addressing efficiency and quality of life through modular solutions mapped to critical stages. The Framework integrates diverse data sources to improve diagnosis, treatment, and impact assessment, reflecting a holistic, cross-sector approach. By guiding multi-stakeholder efforts, the Framework aims to harness AI’s potential to significantly improve rare disease care.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100057"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133068","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}

引用次数: 0

Frontometaphyseal dysplasia associated with the FLNA p.G1576R variant 与FLNA p.G1576R变异相关的额干骺端发育不良

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100087

Morten Reiffenstein Huno , Trine Østergaard Nielsen , Michel Bach Hellfritzsch , Sara Markholt , Michael Davidsen , Stine Maria Lund Andersen , Sia Mariann Kjeldsen , Thomas Krusenstjerna-Hafstrøm , Stephen P. Robertson , Pernille Axél Gregersen

{"title":"Frontometaphyseal dysplasia associated with the FLNA p.G1576R variant","authors":"Morten Reiffenstein Huno , Trine Østergaard Nielsen , Michel Bach Hellfritzsch , Sara Markholt , Michael Davidsen , Stine Maria Lund Andersen , Sia Mariann Kjeldsen , Thomas Krusenstjerna-Hafstrøm , Stephen P. Robertson , Pernille Axél Gregersen","doi":"10.1016/j.rare.2025.100087","DOIUrl":"10.1016/j.rare.2025.100087","url":null,"abstract":"<div><div>This report presents a male patient with frontometaphyseal dysplasia (FMD) caused by a previously reported <em>FLNA</em> variant (NM_001456.4:c.4726G>A (p.Gly1576Arg)) that was maternally inherited. This finding directly contrasts with two previously reported observations of the same variant, which led to the suggestion that it is associated with a clinically distinct phenotype. Unlike these earlier descriptions, which did not report either signs of skeletal dysplasia or the typical facial features of FMD, the individual we report here exhibits, supraorbital hyperostosis, a skeletal dysplasia (small femoral epiphyses and bilateral pes cavus), retentio testis, reduced joint mobility, and a congenital cardiac anomaly (Ebstein anomaly). Furthermore, the previous cases documented uric acid renal stones and increased optic cup-to-disc ratio, both of which are not found in this patient. The previously reported individuals also had prominent keloid scarring, that is commonly encountered in individuals with FMD, but notably our patient exhibited hypertrophic scarring. The phenotype we report here suggests a broader phenotypic spectrum associated with this specific <em>FLNA</em> variant than previously recognized, challenging the view that it represents a separate syndrome of cardiac valvulopathy, keloid scarring, and joint mobility reduction and instead suggests it is likely best included within the spectrum of frontometaphyseal dysplasia.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100087"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143887018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Siblings with Rett Syndrome: A fatal male case and an asymptomatic female carrier 兄弟姐妹患有Rett综合征：一名死亡男性病例和一名无症状女性携带者

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100089

José M. Lazaro-Guevara , Karen M. Garrido-Lopez

{"title":"Siblings with Rett Syndrome: A fatal male case and an asymptomatic female carrier","authors":"José M. Lazaro-Guevara , Karen M. Garrido-Lopez","doi":"10.1016/j.rare.2025.100089","DOIUrl":"10.1016/j.rare.2025.100089","url":null,"abstract":"<div><h3>Background</h3><div>Rett Syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, primarily affecting females. It was previously believed that male cases, although rare, frequently result in severe symptoms and early mortality due to hemizygosity of the X chromosome. However, recent studies show that some males with <em>MECP2</em> variants may present with a broad phenotypic spectrum, including milder forms, as well as a broader spectrum in affected females due to the effect of X-inactivation that previously was underrecognized.</div></div><div><h3>Case presentation</h3><div>We report RTT in two siblings from the same parents, both carrying a pathogenic <em>MECP2</em> mutation (c.763 C>T, p.Arg255*). The male sibling presented early hypotonia, profound developmental delays, and died in infancy. Initially presumed to be a de novo mutation, subsequent expanded genetic testing revealed the mother to be an asymptomatic carrier—likely attributable to favorable or skewed X chromosome inactivation. She had inherited this mutation neither from her father nor her mother, as both maternal grandparents tested negative. Despite two in vitro fertilization (IVF) attempts with preimplantation genetic diagnosis (PGD) in Guatemala (ultimately unsuccessful), the couple conceived naturally. Their female child, who carries the same <em>MECP2</em> mutation, remains asymptomatic at 27 months, demonstrating typical developmental milestones.</div></div><div><h3>Conclusion</h3><div>These findings underscore the broad phenotypic spectrum of RTT, with markedly different clinical outcomes—for this specific case fatal in the hemizygous male and asymptomatic in the female carrier. They also highlight critical considerations for genetic counseling, the financial and emotional challenges inherent in assisted reproductive technologies in resource-limited settings, and the importance of ongoing surveillance for carriers of <em>MECP2</em> mutations due to risk of developing subtle or late-onset features.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100089"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143891920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Correspondence on “First year result and insights from the Mexican Rare Disease Patient Registry from Cesar E. Calvo Aspiros and Claudia Gonzaga-Jauregui, which was recently published on Rare journal. https://doi.org/10.1016/j.rare.2024.100046 Cesar E. Calvo Aspiros和Claudia Gonzaga-Jauregui关于“墨西哥罕见病患者登记第一年的结果和见解”的通信最近发表在《罕见杂志》上。https://doi.org/10.1016/j.rare.2024.100046

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100073

Marcela Vela-Amieva, Cynthia Fernández-Lainez

引用次数: 0

Optic nerve hemangioblastoma mimicking optic pathway glioma: A case report and literature review 视神经血管母细胞瘤模拟视神经通路胶质瘤1例报告并文献复习

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100079

Ru Jian Jonathan Teoh , Kala Sumugam , Sharifah Intan Hosnaliza Syed Osman , Hairuddin Achmad , Nor Aizan Ab’llah @ Ariffin

{"title":"Optic nerve hemangioblastoma mimicking optic pathway glioma: A case report and literature review","authors":"Ru Jian Jonathan Teoh , Kala Sumugam , Sharifah Intan Hosnaliza Syed Osman , Hairuddin Achmad , Nor Aizan Ab’llah @ Ariffin","doi":"10.1016/j.rare.2025.100079","DOIUrl":"10.1016/j.rare.2025.100079","url":null,"abstract":"<div><div>Optic nerve hemangioblastomas (ONH) are rare tumors frequently associated with Von Hippel-Lindau (VHL) syndrome. They may mimic optic pathway gliomas (OPG), posing diagnostic and surgical challenges. We report a case of a 36-year-old male presenting with progressive blurry vision in the right eye over three months. Initial examination revealed unilateral axial proptosis, a positive relative afferent pupillary defect, and optic disc swelling. Initial magnetic resonance imaging revealed a lobulated, enhancing lesion involving the intra-orbital segment of the right optic nerve, which was presumed to be an OPG. Over five years of surveillance, the tumor progressed, causing new-onset headaches, worsening proptosis, and mass effect. Surgical debulking was performed, revealing a hemangioblastoma histologically. ONH should be considered in the differential diagnosis of optic pathway tumors, particularly in cases with atypical presentation or progression. Surgical intervention may be necessary for definitive diagnosis and management, and an association with VHL must be considered.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100079"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143807122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Breaking patterns: Multiple spleens and the absent right kidney—A rare and unique case report in a 33-year-old burn victim 破裂模式：多发脾和右肾缺失——一例33岁烧伤患者的罕见独特病例报告

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100068

Jayeshkumar Kanani, Mohammed Iliyas Sheikh

{"title":"Breaking patterns: Multiple spleens and the absent right kidney—A rare and unique case report in a 33-year-old burn victim","authors":"Jayeshkumar Kanani, Mohammed Iliyas Sheikh","doi":"10.1016/j.rare.2025.100068","DOIUrl":"10.1016/j.rare.2025.100068","url":null,"abstract":"<div><div>Polysplenia is a congenital condition characterized by the presence of multiple small accessory spleens with absent of primary spleen. While polysplenia may occur in isolation or may be present as part of Polysplenia syndrome. This report presents an extraordinary case of polysplenia in a 33-year-old male who died due to severe burns, and an autopsy was performed. During the medicolegal autopsy, internal examination showed three spleen-like structures without a primary spleen, along with the absence of the kidney on the right side. Despite these anomalies, blood investigations that were conducted during treatment revealed normal organ function. The deceased had no history of a major illness or surgery. This rare combination in adults has never been reported in the literature. This unique case contributes to the complexity of polysplenia syndrome and challenges conventional diagnostic expectations. This particular case doesn't fit to polysplenia syndrome. This condition may predispose individuals to increased health risks, such as infections or renal complications, emphasizing the importance of thorough medical evaluation and follow-up. This case underlines the significance of imaging studies and physical examinations in identifying congenital anomalies that might remain asymptomatic but could have future clinical implications.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100068"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143395528","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}

引用次数: 0

Methodological considerations and implications for appetite and feeding behaviour research in PKU; Current knowledge, practical application and future perspectives 北大鼠食欲与摄食行为研究的方法学思考与启示当前知识、实际应用和未来展望

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100060

Ben Green

{"title":"Methodological considerations and implications for appetite and feeding behaviour research in PKU; Current knowledge, practical application and future perspectives","authors":"Ben Green","doi":"10.1016/j.rare.2025.100060","DOIUrl":"10.1016/j.rare.2025.100060","url":null,"abstract":"<div><div>Appetite and the regulation of feeding behaviour are sophisticated processes. Regulated through homeostatic and non-homeostatic influences, appetite-related peptides and external cues existing in the physical environment work synergistically to maintain energy homeostasis. Phenylketonuria (PKU) is a rare disorder impacting phenylalanine metabolism. The disrupted breakdown of phenylalanine into tyrosine and its metabolites may impact the mechanisms controlling appetite and feeding behaviour compared to non-PKU counterparts. This may, in part, relate to consumption of L-amino acid protein substitutes and specialist low-protein foods which are integral adjuncts to the dietary management of PKU. While adequate energy intake is an important factor for maintaining satisfactory blood phenylalanine concentrations, appetite and feeding behaviour should, therefore, represent an integral consideration for PKU but is currently understudied. Only a handful of studies have evaluated appetite and feeding behaviour in PKU. The most appropriate methodological approaches of these studies however were not employed. This manuscript, therefore, reviews the purported mechanisms controlling appetite and feeding behaviour and from a PKU perspective provides readers with sound study design proposals and justification. Though one method will not answer all research questions, this manuscript may help researchers and practitioners make informed decisions about what tools and methodological approaches will provide the most meaningful outcomes. The manuscript concludes with suggestions for future research directions. Though the evidence concerning appetite and feeding behaviour in PKU remains equivocal at present, early data appears to indicate that protein substitutes with glycomacropeptide facilitate metabolic control and improve appetite-relate peptide regulation and therefore satiety signalling in PKU.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100060"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133405","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}

引用次数: 0

Reflections on the ERN ITHACA 2024 Patient Workshop in Bucharest 对布加勒斯特ERN ITHACA 2024年患者研讨会的反思

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100072

Tanja Zdolšek Draksler , Anne Hugon , Dorica Dan

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Improving care for rare and undiagnosed diseases – The role of care pathways 改善对罕见和未确诊疾病的护理——护理途径的作用

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100076

Sara Brambilla, Gareth Baynam, Roberto Giugliani, Holm Graessner, Carmencita D. Padilla, Chiuhui Mary Wang

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