Rare最新文献

{"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}