Rare最新文献

{"title":"Position paper of the undiagnosed diseases network international with respect to the establishment of the journal Rare-Open research in rare diseases","authors":"William A. Gahl , Olaf Bodamer , Helene Cederroth , Roberto Giugliani , Eric Klee , Manuel Posada De La Paz , Olaf Horst Riess , Domenica Taruscio","doi":"10.1016/j.rare.2023.02.002","DOIUrl":"https://doi.org/10.1016/j.rare.2023.02.002","url":null,"abstract":"","PeriodicalId":101058,"journal":{"name":"Rare","volume":"1 ","pages":"Article 100002"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49896259","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}

{"title":"Launching Rare","authors":"Wendy A.G. van Zelst-Stams","doi":"10.1016/j.rare.2023.02.001","DOIUrl":"https://doi.org/10.1016/j.rare.2023.02.001","url":null,"abstract":"","PeriodicalId":101058,"journal":{"name":"Rare","volume":"1 ","pages":"Article 100001"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49881483","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}

{"title":"Cover 2: Editorial Board","authors":"","doi":"10.1016/S2950-0087(23)00014-5","DOIUrl":"https://doi.org/10.1016/S2950-0087(23)00014-5","url":null,"abstract":"","PeriodicalId":101058,"journal":{"name":"Rare","volume":"1 ","pages":"Article 100014"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008723000145/pdfft?md5=da4397f83c7671f46aed85b206db8498&pid=1-s2.0-S2950008723000145-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138577562","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":"Clinical free text to HPO codes","authors":"Gabrielle Stinton ,&nbsp;Jane A. Lieviant ,&nbsp;Sylvia Kam ,&nbsp;Jiin Ying Lim ,&nbsp;Jasmine Chew-Yin Goh ,&nbsp;Weng Khong Lim ,&nbsp;Gareth Baynam ,&nbsp;Tele Tan ,&nbsp;Duc-Son Pham ,&nbsp;Saumya Shekhar Jamuar","doi":"10.1016/j.rare.2023.100007","DOIUrl":"https://doi.org/10.1016/j.rare.2023.100007","url":null,"abstract":"<div><p>Leveraging Artificial Intelligence (AI) within the rare disease diagnostic odyssey can facilitate a decrease in diagnostic times and an increase in diagnostic rates. Among the steps involved in the odyssey, this project focused on utilizing AI to automate the standardized capturing of clinical free text into Human Phenotype Ontology (HPO) codes. This research project was conducted at both the KK Women’s and Children’s Hospital (KKH), Singapore and the Rare Care Centre at Perth Children’s Hospital, Western Australia (WA), via the Curtin New Colombo Plan (NCP) Scholarship. The outcome of the project saw the development of a Streamlit web application that utilized two (2) pre-trained AI models – PhenoTagger and PhenoBERT – with a human-in-the-loop design. A case study conducted with ten (10) de-identified clinical reports demonstrated a reduction in the HPO extraction task time from ten (10) to twenty (20) minutes per report to less than five (5) minutes.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"1 ","pages":"Article 100007"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008723000078/pdfft?md5=dfbe25a04a0a3221c87b0b17f2bc30ba&pid=1-s2.0-S2950008723000078-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92016179","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 role of medical students in advocacy for rare diseases – Experience from a Low- and Middle-Income Country (LMIC)","authors":"Javeria Bilal Qamar ,&nbsp;Muhammad Uzair ,&nbsp;Shahnoor Ahmed ,&nbsp;Hamna Ganny ,&nbsp;Lena Jafri ,&nbsp;Salman Kirmani","doi":"10.1016/j.rare.2023.100004","DOIUrl":"https://doi.org/10.1016/j.rare.2023.100004","url":null,"abstract":"<div><p>2023 marks the Year of the Zebra, a year to celebrate hope for those with rare diseases. While each individual rare disease affects few, collectively everyone living with a rare disease makes up a total of over 300 million people worldwide. The annual celebration of rare disease day allows communities to advocate for visibility, inclusion and better healthcare for those with lesser well known conditions. Having a rare disease and living in a developing country like Pakistan, where quality healthcare is itself a rare commodity, predisposes those with rare diseases to many challenges. In this light, learning from patient journeys and advocating for rare diseases is a step in the right direction to better care. In this short communication, we share experiences from Pakistan of medical students spearheading one such effort as stakeholders in the care for rare. We also discuss the importance of teaching health advocacy as part of the medical education framework, helping nurture empathy in medical students, who we hope to be leaders of better care in the future.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"1 ","pages":"Article 100004"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49881484","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}

{"title":"A 5-year follow-up of a female patient with Kleine-Levin syndrome: Diagnosis,disease course and management","authors":"Prabhoo Dayal,&nbsp;Virendra Vikram Singh,&nbsp;Ravikant Kumar","doi":"10.1016/j.rare.2023.100003","DOIUrl":"https://doi.org/10.1016/j.rare.2023.100003","url":null,"abstract":"<div><p>Kleine-Levin syndrome (KLS) is a rare illness of recurrent episodes of hypersomnia associated with hyperphagia, cognitive dysfunctions and behavioural abnormalities. KLS, a disorder often reported in young males has been described in fewer females. It is rare in patients with age beyond second decade. We report a case of a female in early thirties who presented with recurrent episodes of excessive sleepiness and hyperphagia with cognitive dysfunctions. Her eating and subsequent weight gain was so prominent that she was referred to addiction treatment centre. She was managed with Lithium and Modafinil.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"1 ","pages":"Article 100003"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49904693","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}

{"title":"New view of aceruloplasminemia: Systematic review and meta-analysis tracking dots from onset to disease development and iron-related features","authors":"Imen Ketata ,&nbsp;Emna Ellouz","doi":"10.1016/j.rare.2023.100010","DOIUrl":"https://doi.org/10.1016/j.rare.2023.100010","url":null,"abstract":"<div><h3>Background and purpose</h3><p>Aceruloplasminemia is an uncommon genetic disorder with considerable diversity in clinical manifestations and tissue iron overload, whose underlying mechanisms are unclear. We aim to explain early and follow-up clinical/biological signs, suggesting novel theories about these manifestations and brain iron uptake.</p></div><div><h3>Methods</h3><p>This systematic review and meta-analysis adhered to the 2020 PRISMA guidelines. PubMed and Europe PMC databases, with Web searches (Google Scholar, Science Direct), were investigated using mesh terms and keywords to identify case reports with no limit for publication date. Screening for eligibility was made by two investigators.</p></div><div><h3>Results</h3><p>Overall, 110 cases were included. During the disease’s initial phase, male, consanguinity and ferritin level≥ 700 ng/ml were linked to increased diabetes risk (adjusted odds ratio (aOR)= 3.6 [95% CI= 1–12.2], aOR= 6 [95% CI= 1–35.4], aOR= 12.32 [95% CI= 1.8–82.4] respectively) and female (aOR=6.5 [95% CI=1.7–23.8]) and ferritin &lt; 700 ng/ml (aOR=5.7 [95% CI=1.7–19]) were associated with higher risk of anemia. While consanguinity was negatively correlated with neuropsychiatric symptoms in the initial phase, it was positively associated with them in follow-up. Although initial systemic signs were linked to elevated neuropsychiatric and brain iron overload risks, starting with neuropsychiatric symptoms showed an inverse association with systemic signs onset and brain iron uptake. Onset of the disease by diabetes, diabetes in follow-up, and homozygosity were the common risk factors for thalamus, basal ganglia, and dentate nuclei iron overload.</p></div><div><h3>Conclusion</h3><p>Despite the intricate physiopathological mechanism of aceruloplasminemia involving various factors, our systematic reviews help comprehend the clinical signs range and illustrate the disease course. Additional studies are required to delve deeper into these identified connections.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"1 ","pages":"Article 100010"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008723000108/pdfft?md5=73dba0777f791ce7af150106522c84a5&pid=1-s2.0-S2950008723000108-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92016178","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":"Sexual and urinary dysfunctions among patients with neuromyelitis optica spectrum disorder (NMOSD): A systematic review","authors":"Narges Ebrahimi ,&nbsp;Kimia Kazemzadeh ,&nbsp;Elham Moases Ghaffary ,&nbsp;Alireza Afshari-Safavi ,&nbsp;Sara Bagherieh ,&nbsp;Sangharsha Thapa ,&nbsp;Vahid Shaygannejad ,&nbsp;Omid Mirmosayyeb","doi":"10.1016/j.rare.2023.100009","DOIUrl":"https://doi.org/10.1016/j.rare.2023.100009","url":null,"abstract":"<div><h3>Background</h3><p>Sexual dysfunctions (SD) and urinary dysfunctions (UD) are noteworthy and common disorders among patients with neuromyelitis optica spectrum disorder (NMOSD) that can lead to many negative impacts on different aspects of life including lower quality of life (QOL) and relationships, social and emotional problems, and lower physical functioning.</p></div><div><h3>Aim</h3><p>We aimed to systematically review the UD and SD that occurred among patients with NMOSD.Method: In order to conduct this research, we searched four databases: PubMed (Medline), Scopus, Web of Science, and Embase, from 1970 to May 2022. As part of the investigation, we also reviewed the gray literature, which includes conference abstracts, reviews, and references. We included studies that reported SD and UD among NMOSD patients.</p></div><div><h3>Results</h3><p>A total of 1259 articles were originally included, 730 remained after duplicates had been removed, and the title and abstract then was reviewed. The final result was that 40 papers met our criteria to enter this systematic review.</p></div><div><h3>Conclusion</h3><p>Due to the frequency of SD and UD among NMOSD patients as well as their negative impacts on the quality of patients’ lives as a sustained burden for them, physicians and practitioners should pay more attention to better check these disorders among NMOSD patients visit to visit.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"1 ","pages":"Article 100009"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008723000091/pdfft?md5=866361a72c6ba2a3e959fd962430c019&pid=1-s2.0-S2950008723000091-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92025835","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":"Huntington-like disease caused by a novel RNF216/TRIAD3 pathogenic variant","authors":"Mario Spoljaric ,&nbsp;Zdravka Krivdic Dupan ,&nbsp;Ruzica Palic Kramaric ,&nbsp;Silva Guljas ,&nbsp;Svetlana Tomic","doi":"10.1016/j.rare.2023.100006","DOIUrl":"https://doi.org/10.1016/j.rare.2023.100006","url":null,"abstract":"<div><p>The main objective of this case report is the presentation of a novel homozygous pathogenic variant of the RNF216 gene in a male patient diagnosed with Gordon Holmes syndrome. The patient presented with dominant generalized chorea, ataxia, dysarthria, and less pronounced hypogonadism accompanied by cognitive decline and psychological disturbances, which is additionally accompanied by pronounced leukoencephalopathy and generalized brain atrophy. Whole exome sequencing showed a novel homozygous pathogenic variant RNF216 NM_207111.4:c .986 G&gt;A, and the diagnosis of Gordon Holmes syndrome was established. The new pathogenic variant of the RNF216 gene discovered in our patient is one of the few in the world that leads to this clinical presentation of the disease.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"1 ","pages":"Article 100006"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008723000066/pdfft?md5=559be7996a7830efeadd3ce2b2e0cf38&pid=1-s2.0-S2950008723000066-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92129381","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}