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Consensus recommendation for the treatment of generalised Myasthenia Gravis with anti-acetylcholine receptor antibodies (gMG AChR+) in Spain

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

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Realising the potential impact of artificial intelligence for rare diseases – A framework

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

Breaking patterns: Multiple spleens and the absent right kidney—A rare and unique case report in a 33-year-old burn victim

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

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

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

Marcela Vela-Amieva, Cynthia Fernández-Lainez

引用次数: 0

Methodological considerations and implications for appetite and feeding behaviour research in PKU; Current knowledge, practical application and future perspectives

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

Geographical distribution of eight neuromuscular disorders in the Netherlands based on a nationwide registry

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100059

Johanna C.W. Deenen , André L.M. Verbeek , Pieter A. van Doorn , Catharina G. Faber , Anneke J. van der Kooi , Nicolette C. Notermans , Jan J.G.M. Verschuuren , Baziel G.M. van Engelen , Nicol C. Voermans

{"title":"Geographical distribution of eight neuromuscular disorders in the Netherlands based on a nationwide registry","authors":"Johanna C.W. Deenen , André L.M. Verbeek , Pieter A. van Doorn , Catharina G. Faber , Anneke J. van der Kooi , Nicolette C. Notermans , Jan J.G.M. Verschuuren , Baziel G.M. van Engelen , Nicol C. Voermans","doi":"10.1016/j.rare.2025.100059","DOIUrl":"10.1016/j.rare.2025.100059","url":null,"abstract":"<div><div>Neuromuscular disorders are a very heterogeneous group of diseases and comprise a large number of patients. Epidemiological key figures on incidence, prevalence and mortality serve as basic information for individualised and public health care and researchers. Geographical mapping of the specific disorders is expected to provide valuable insights into clustering of the conditions, which points to possible environmental and genetical determinants. So far, mostly geographical maps of motor neuron diseases have been reported. By using record information from the Dutch nationwide Computer Registry of All Myopathies and Polyneuropathies (CRAMP) we aimed to generate geographical maps for eight disorders predominantly diagnosed in adults. We investigated the geographical distribution of newly diagnosed patients in the Netherlands from 2004 to 2011. The variables used were diagnosis, date of diagnosis, and the first two digits of the postal code for geographical location from CRAMP. The number of incident cases was divided by the total number of people populating the postal code area. Nationwide incidence maps were constructed for myotonic dystrophy, progressive (spinal) muscular atrophy, chronic inflammatory demyelinating polyneuropathy, facioscapulohumeral muscular dystrophy, inclusion body myositis, hereditary motor and sensory neuropathy, Pompe disease and oculopharyngeal muscular dystrophy. Considerable regional variation between disorders was observed, particularly for myotonic dystrophy and facioscapulohumeral muscular dystrophy. We provided the first neuromuscular atlas of the Netherlands with maps for eight disorders commonly seen in the neuromuscular practice. To address possible outliers due to low population numbers, Bayesian smoothing techniques should be considered in future research.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100059"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133439","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

Impact on the family of a child’s rare disease: A large cross-sectional study 儿童罕见病对家庭的影响：大型横断面研究

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100066

Judith M. Jobling , Suzy M. Teutsch , Guy D. Eslick , Elizabeth J. Elliott

{"title":"Impact on the family of a child’s rare disease: A large cross-sectional study","authors":"Judith M. Jobling , Suzy M. Teutsch , Guy D. Eslick , Elizabeth J. Elliott","doi":"10.1016/j.rare.2025.100066","DOIUrl":"10.1016/j.rare.2025.100066","url":null,"abstract":"<div><h3>Introduction</h3><div>Children living with rare diseases (RD) require considerable support from their families. <em>Aim:</em> To assess the impact of children’s RD on family functioning and evaluate predictors of the level of impact.</div></div><div><h3>Methods</h3><div>Families of Australian children aged < 19 years and living with a RD were invited to complete a comprehensive survey. Impact on family (IOF) score, using the validated IOF scale, embedded within the survey, was used as the main outcome measure.</div></div><div><h3>Results</h3><div>Families of 462 children with > 240 different RD completed the survey. IOF scores increased as child health functioning (HF) worsened (Odds ratio [OR]= 97.3 [95 % CI 40.6–233.4] for severely reduced compared to excellent HF). Speaking a first language other than English (OR 2.9; 95 % CI 1.4–6.3), experiencing financial difficulty (OR 2.9; 95 % CI 1.4–3.1), long wait times to see a specialist doctor (OR 1.9; 95 % CI 1.3–2.9), and having two versus one child with a RD (OR 3.8; 95 % CI 1.1–14.5) were also associated with higher IOF scores. Conversely, IOF scores significantly decreased as the age of children increased (6–11 y: OR 0.6 (95 % CI 0.4–0.9); 12–18 y: OR 0.5 (95 % CI 0.3–0.8), versus 0–5 y).</div></div><div><h3>Conclusion</h3><div>Worse health-related functioning in children with RD results in significantly higher impacts on family functioning. Practical, financial, and socio-emotional support is required to reduce the burden for families whose children live with a RD, particularly families from non-English speaking backgrounds, with financial stress, or with young children who have severe disease.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100066"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143429201","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

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

Tanja Zdolšek Draksler , Anne Hugon , Dorica Dan

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Abstracts of the 2023 UDNI Conference

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2024.100055

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Evaluation of social deprivation as a modifier of phenotypic divergence in PTEN Hamartoma Tumor Syndrome

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2024.100053

Parker L. Bussies , David Bruckman , Lamis Yehia , Takae Mizukami , Karen Hurley , Jarrod Dalton , Charis Eng

引用次数: 0