Rare最新文献

{"title":"GeNepher data- and biobank for patients with (suspected) genetic kidney disease: Rationale, design and status update","authors":"Laura R. Claus ,&nbsp;Iris Lekkerkerker ,&nbsp;Bert van der Zwaag ,&nbsp;Tri Q. Nguyen ,&nbsp;Nine V.A.M. Knoers ,&nbsp;Martin H. de Borst ,&nbsp;Group authorship GeNepher Biobank Contributors,&nbsp;Maarten B. Rookmaker ,&nbsp;Marc R. Lilien ,&nbsp;Albertien M. van Eerde","doi":"10.1016/j.rare.2024.100030","DOIUrl":"10.1016/j.rare.2024.100030","url":null,"abstract":"<div><h3>Background</h3><p>Clinical research on monogenic kidney disease (MKD) is thriving and the need for large cohorts, prospective data collection and biobanking is increasing. We aim to create a sustainable large MKD biobank with a vast amount of uniformly collected high-quality data that is readily available for future research, with an infrastructure that allows for recontacting participants.</p></div><div><h3>Methods</h3><p>The GeNepher data- and biobank is an ongoing data- and sample collection that includes patients and family members with known and/or suspected MKD. With a tiered approach participants can give broad consent for including their 1) available medical data (including genetic testing results), 2) inclusion of massively parallel sequencing data for add-on analysis, and 3) additional biobank sampling (e.g. urine for tubuloids, skin biopsy for fibroblasts). Recontacting is possible for additional data collection, novel research opportunities and return of relevant findings.</p></div><div><h3>Discussion</h3><p>The GeNepher data- and biobank collects prospective and retrospective data from kidney disease patients and their relatives. The broad consent allows for research that extends beyond one specific research question. Herewith, this biobank aims to 1) increase the scientific knowledge based on disease mechanisms including (novel) monogenic causes, 2) study modifiers, 3) improve care, including reproduction related research questions. Furthermore, it facilitates recontacting for opportunities in treatment development or when diagnose specific trials are started or specific treatment is approved.</p></div><div><h3>Conclusion</h3><p>The GeNepher biobank is designed to support a wide range of research projects by providing access to a diverse population of patients with (suspected) MKD and has the potential to make a significant contribution to the field of rare kidney disease research.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100030"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000139/pdfft?md5=51fe20bb6d783dfa18d588c946319471&pid=1-s2.0-S2950008724000139-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140770360","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 diagnostic odyssey for children living with a rare disease – Caregiver and patient perspectives: A narrative review with recommendations","authors":"Kascia Pavisich ,&nbsp;Hannah Jones ,&nbsp;Gareth Baynam","doi":"10.1016/j.rare.2024.100022","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100022","url":null,"abstract":"<div><p>Children living with a rare disease (CLWRD) often endure a lengthy journey to diagnosis, commonly referred to as a diagnostic odyssey.(1,2) This journey significantly impacts their physical, mental and financial wellbeing, in addition to that of their families.(3,4,5,6) The diagnostic odyssey is often characterised by anxiety and stress surrounding the uncertainty of the future.(7) This is experienced by the patient as well as by the family.(7) This odyssey is associated with poor patient and family outcomes, reduced trust in health professionals and decreased satisfaction with the medical system.(1,5,8,9,10,11) The aim of this narrative review was to explore the experiences of caregivers of CLWRD, in addition to that of the patients themselves, throughout their diagnostic odyssey. This narrative review reflected upon quantitative and qualitative data in the literature to identify and explore several themes common to the journeys of CLWRD and their caregivers. One such theme included parental burden, which encompassed the need to fulfil multiple roles and duties, in addition to emerging conflict with their increasingly autonomous children.(6) Another theme that was identified included the diagnostic odyssey itself, specifically delayed diagnosis, and the value of diagnosis.(1,5,8,9,10,11) Additionally, lack of support (both psychological and financial) was a further theme identified as a common experience shared by individuals on their journey to diagnosis.(5) Our findings suggests a need for improved communication between practitioners and patients, greater education of medical practitioners about rare diseases, the implementation of faster and clearer referral pathways for children living with rare diseases, better parental education about and access to support groups, and improved provision of psychological and financial support, particularly at time of diagnosis.(5,9) These improvements will together, assist in improving outcomes for CLWRD and their families. In the Australian context, these are consistent with the recommendations of the National Strategic Action Plan for Rare Diseases (2020).(12).</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100022"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S295000872400005X/pdfft?md5=4c05d0be09f45ced6c7f659cc4b0e341&pid=1-s2.0-S295000872400005X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139992540","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 case report describing insights into the imaging of Apert syndrome","authors":"Diksha Goyal,&nbsp;Poonam Sherwani","doi":"10.1016/j.rare.2024.100023","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100023","url":null,"abstract":"<div><p>Apert syndrome is a rare congenital autosomal dominant acrocephalosyndactyly type I syndrome which manifests in the form of various craniofacial, skeletal, and visceral anomalies. The present case reports this rare entity in a 15-month-old who presented with multiple craniofacial abnormalities, craniosynostosis and bilateral symmetrical syndactyly, and after thorough evaluation was diagnosed as a case of Apert Syndrome.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100023"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000061/pdfft?md5=cfaf0d1cba55815ec61975143a0c742a&pid=1-s2.0-S2950008724000061-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139999367","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":"Unfurling a case of encephalitis with Acanthamoeba after a near-drowning event","authors":"Debarup Das ,&nbsp;Kuntal Biswas ,&nbsp;Kokila Banerjee ,&nbsp;Bhaswar Bhattacharya ,&nbsp;Arijit Roy ,&nbsp;Sumeeta Khurana ,&nbsp;Atanu Biswas","doi":"10.1016/j.rare.2024.100035","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100035","url":null,"abstract":"<div><p><em>Acanthamoeba</em> is a free-living ameba which is known to cause keratitis, encephalitis, and disseminated infections in human beings. Granulomatous amebic encephalitis (GAE) is classically seen in immunocompromised hosts. Here the authors present a patient with meningoencephalitis following accidental near drowning in a pond from eastern India which subsequently proved to be a case of <em>Acanthamoeba</em> associated encephalitis but presented acutely contrary to known literature. <em>Acanthamoeba</em> was seen in direct wet mount examination of Cerebrospinal fluid (CSF) samples and subsequently isolated by culture and detected by PCR (polymerase chain reaction) test. Magnetic Resonance imaging (MRI) showed multiple hemorrhagic infarcts with leptomeningeal enhancements. The unusual acute presentation by this rare infectious agent, CSF showing neutrophilic pleocytosis and grave prognosis in an apparently immunocompetent host make this case unique and noteworthy. <em>Acanthamoeba</em> related meningoencephalitis can be fatal if it’s not diagnosed early. <em>Acanthamoeba</em> as an etiological agent must be suspected even in immunocompetent hosts when there is a history of freshwater bathing or drowning.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100035"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000188/pdfft?md5=3f3f43223811d739b33c8b5275c27992&pid=1-s2.0-S2950008724000188-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141480986","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":"Progressive demyelinating childhood cerebral adrenoleukodystrophy : Assessment of communication impairment","authors":"Mangal Chandra Yadav ,&nbsp;Bhavani Venkatachalam ,&nbsp;Akshay Parmar ,&nbsp;M. Aparna Krishnan ,&nbsp;Reheema Thasli ,&nbsp;Sachchidanand Sinha","doi":"10.1016/j.rare.2024.100029","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100029","url":null,"abstract":"<div><p>Adrenoleukodystrophy (ALD) is a rare demyelinating genetic disorder occurring due to mutation in the gene ABCD1. The current case study involved detailed evaluation of communication skills including audiological and speech-language evaluations of a 6 year old diagnosed with ALD. The child evidenced severely restricted communication skills along with several other subsystems affected.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100029"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000127/pdfft?md5=ddf5393a90cebf133927bcc60d857a48&pid=1-s2.0-S2950008724000127-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140633464","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":"Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant","authors":"Megumi Leung ,&nbsp;Meredith Sanchez-Castillo ,&nbsp;Newell Belnap ,&nbsp;Marcus Naymik ,&nbsp;Anna Bonfitto ,&nbsp;Jennifer Sloan ,&nbsp;Katie Hassett ,&nbsp;Wayne M. Jepsen ,&nbsp;Aravind Sankaramoorthy ,&nbsp;Tracy Murray Stewart ,&nbsp;Jackson R. Foley ,&nbsp;Sampathkumar Rangasamy ,&nbsp;Matthew J. Huentelman ,&nbsp;Vinodh Narayanan ,&nbsp;Keri Ramsey","doi":"10.1016/j.rare.2023.100017","DOIUrl":"https://doi.org/10.1016/j.rare.2023.100017","url":null,"abstract":"<div><p>Snyder-Robinson syndrome (SRS) is a rare X-linked recessive disorder characterized by a collection of clinical features including mild to severe intellectual disability, hypertonia, marfanoid habitus, facial asymmetry, osteoporosis, developmental delay and seizures. Whole genome sequencing (WGS) identified a mutation in the spermine synthase (<em>SMS</em>) gene (c.746 A&gt;G, p.Tyr249Cys) in a male with kyphosis, seizures, and osteoporosis. His phenotype is unique in that he does not have intellectual disability (ID) but does have a mild learning disability. This case demonstrates a milder presentation of SRS and expands the phenotype beyond the reported literature.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100017"},"PeriodicalIF":0.0,"publicationDate":"2023-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008723000170/pdfft?md5=6a571087b0d230cbb84c196fb7034cd9&pid=1-s2.0-S2950008723000170-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138656511","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":"Measuring health-related quality of life in solid rare cancer patients: A study protocol","authors":"Catarina S. Padilla ,&nbsp;Margot E.T. Tesselaar ,&nbsp;Winette T.A. van der Graaf ,&nbsp;Olga Husson","doi":"10.1016/j.rare.2023.100012","DOIUrl":"https://doi.org/10.1016/j.rare.2023.100012","url":null,"abstract":"<div><p>Rare cancer patients often face delayed diagnosis and lack of expert care which are a challenge to clinical practice. Patients diagnosed with a rare tumour report poorer psychosocial outcomes and impaired health-related quality of life (HRQoL). The impairment might be explained by the challenges patients with rare cancer face during their disease trajectory. Specific HRQoL assessment is important to understand the variances in the quality of life patients experience. This study aims to examine how HRQoL is currently assessed in clinical adult solid rare cancer research and identify specific HRQoL issues patients experience and issues faced in the healthcare system due to the disease’s rarity. Further, this study aims to test the content validity of existing HRQoL questionnaires. In this mixed-method research, two literature reviews will be conducted, and clinical data will be collected worldwide in a multicentre approach via interviews and questionnaires. Basic quantitative analysis will be used to analyse patient and HCP data. The project outcomes will result in standards of the HRQoL measurement in patients diagnosed with a solid rare cancer.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100012"},"PeriodicalIF":0.0,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008723000121/pdfft?md5=befb5ae634ec37295b8d638b7ff79e8e&pid=1-s2.0-S2950008723000121-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138582434","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":"Assessing knowledge, perceptions, awareness and attitudes on rare diseases among health care providers and health students in Mexico","authors":"Benjamín Gómez-Díaz ,&nbsp;Edgar Oswaldo Zamora-González ,&nbsp;Antonio Miranda-Duarte ,&nbsp;Bladimir Roque-Ramírez ,&nbsp;Norma Alejandra Vázquez-Cárdenas ,&nbsp;Georgina Martínez-Gómez ,&nbsp;Jhoana Martín del Campo ,&nbsp;Erick Castillo-Jáuregui ,&nbsp;Ángel Rafael Castro-Navarro ,&nbsp;Antonio Marín-Cruz ,&nbsp;Stephanie Rosas-Maldonado ,&nbsp;Paulina Elizabeth Valdez-Anguiano ,&nbsp;Reyna Araceli Barrera-López ,&nbsp;Luz Berenice López-Hernández","doi":"10.1016/j.rare.2023.100005","DOIUrl":"https://doi.org/10.1016/j.rare.2023.100005","url":null,"abstract":"<div><p>Rare diseases (RDs) are serious and often fatal uncommon conditions with a high subjacent genetic origin. Since RD are not prevalent, knowledge regarding these diseases among health care providers and health students is scarce. The management of RD is often inadequate and precarious. Therefore, the aim of the present study is to assess the degree of knowledge, perceptions and attitudes of healthcare practitioners and students in Mexico. Herein we present a reliable questionnaire to assess the degree of knowledge, perceptions, awareness and attitudes of healthcare practitioners and students in Mexico with regard to RDs. The pilot study showed satisfactory levels of knowledge and significant differences in perceptions, awareness and attitudes among the study groups.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"1 ","pages":"Article 100005"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49881482","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":"Initiating newborn screening for metabolic disorders in Pakistan: A qualitative study of the early challenges and opportunities","authors":"Muhammad Wasim ,&nbsp;Haq Nawaz Khan ,&nbsp;Hina Ayesha ,&nbsp;Fazli Rabbi Awan","doi":"10.1016/j.rare.2023.100011","DOIUrl":"https://doi.org/10.1016/j.rare.2023.100011","url":null,"abstract":"<div><p>In multiple countries, newborn screening (NBS) initiatives have provided prevalence insights for inborn errors of metabolism (IEM), but Pakistan lacks such data. Few reports exist on IEM in Pakistan, and none offer comprehensive population-based prevalence information. In response to this deficiency, our study surveyed specialized schools and care centers in Punjab (Faisalabad, Lahore), Pakistan, focused on children with intellectual disabilities (ID). Information from 409 ID children (n = 212 from Faisalabad and n = 197 from Lahore) suspected of IEM was collected. Our objective was to uncover biochemical and molecular underpinnings, ultimately revealing prevalence rates for Punjab, Pakistan. This report details our challenges engaging with affected children, parents, and school staff, emphasizing the potential of such efforts, despite resource limitations, to establish an IEM newborn screening program in Pakistan. By developing NBS program in Pakistan, it will help to minimize the burden of such IEM from the society.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"1 ","pages":"Article 100011"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S295000872300011X/pdfft?md5=34a439ac7d9635e6b128fc6d5beb5ff8&pid=1-s2.0-S295000872300011X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92016177","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":"Cover 1/RARE","authors":"","doi":"10.1016/S2950-0087(23)00013-3","DOIUrl":"https://doi.org/10.1016/S2950-0087(23)00013-3","url":null,"abstract":"","PeriodicalId":101058,"journal":{"name":"Rare","volume":"1 ","pages":"Article 100013"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008723000133/pdfft?md5=489f84e8aaae46b2cbf25158e69178bb&pid=1-s2.0-S2950008723000133-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138577634","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}