Rare最新文献

{"title":"Calciphylaxis in POEMS syndrome: Case report","authors":"Danica Novacic ,&nbsp;Thomas Uldrick ,&nbsp;Alina Dulau-Florea ,&nbsp;Colleen Evans Howe ,&nbsp;Chyi-Chia R. Lee ,&nbsp;Heidi H. Kong ,&nbsp;William A. Gahl","doi":"10.1016/j.rare.2024.100019","DOIUrl":"10.1016/j.rare.2024.100019","url":null,"abstract":"<div><p>POEMS Syndrome is a constellation of findings including Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal plasma cell disorder, and <strong>S</strong>kin changes. Calciphylaxis, a microangiopathy involving vascular calcification and thrombotic occlusions, occurs rarely in POEMS. We present a case of prominent calciphylaxis that antedated the diagnosis of POEMS. The patient presented with extensive ecchymoses progressing to necrotic lesions in the setting of acute renal injury. Previously, she had chronic slowly progressive polyneuropathy, splenomegaly, hypothyroidism, amenorrhea, and ascites. Calciphylaxis was diagnosed on skin biopsy, and POEMS was diagnosed based upon clinical findings plus a bone marrow biopsy showing 15% lambda chain restricted plasma cells. Treatment for the calciphylaxis was supportive with fluids, tissue debridement, wound vacuum devices and antibiotics for secondary infection. Myeloma was treated with bortezomib and steroids. All aspects of the patient’s manifestations improved. We conclude that calciphylaxis can be a prominent feature of POEMS and can appear prior to recognition of the full-blown syndrome.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100019"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000024/pdfft?md5=88019e680a36035c0b87cad46ae3f5fd&pid=1-s2.0-S2950008724000024-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139688139","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":"Bone manifestations in Snyder‐Robinson syndrome","authors":"Teri L. Koerner ,&nbsp;Armon M. Green ,&nbsp;Daniel J. Pace-Farr ,&nbsp;Colton M. Zeitler ,&nbsp;Matthew B. Schwartz ,&nbsp;Mary Jo F. Kutler","doi":"10.1016/j.rare.2024.100025","DOIUrl":"10.1016/j.rare.2024.100025","url":null,"abstract":"<div><h3>Purpose</h3><p>Snyder-Robinson syndrome (SRS) is a rare, X-linked condition caused by loss of function variants in the <em>SMS</em> gene, which codes for spermine synthase, an enzyme essential for synthesis of the polyamine spermine [1]. It is speculated that polyamines are crucial for osteoblast activity [2]. While published cases of SRS have reported osteopenia or osteoporosis, the natural history of bone health in individuals with SRS has not yet been explored. It is hypothesized that the natural history of bone health in these individuals results in low bone density for age and increased fractures in the absence of intervention. It is important for healthcare providers to recognize bone manifestations in individuals with SRS so that an appropriate standard of care can be administered.</p></div><div><h3>Methods</h3><p>Case histories of 40 males with SRS spanning various ages from birth through adulthood were obtained from the Global Snyder-Robinson Syndrome Natural History Study and previously published cases. The data described and summarized in this study included dual x-ray absorptiometry (DEXA) scan results, fractures, and bisphosphonate treatment histories.</p></div><div><h3>Results</h3><p>Most individuals experienced at least one fracture, which was most common in their lower extremities. A greater number of fractures was reported when individuals did not receive bisphosphonates. Favorable DEXA results showed improvements in Z-scores and bone mineral density in individuals on bisphosphonates.</p></div><div><h3>Conclusion</h3><p>SRS is associated with persistent low bone density for age or osteoporosis. Treatment with bisphosphonates and long-term use requires further evaluation. This review contributes to the knowledge of bone health in the SRS population.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100025"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000085/pdfft?md5=2dc39a73e268b62893eaa845bba143e9&pid=1-s2.0-S2950008724000085-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140276036","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":"Review of a rare maternally-derived unbalanced translocation involving deletion of chromosome 10q26.3 and duplication of chromosome 15q22.2→15q26.3 in a 32-year-old male patient: A case report","authors":"Paige Heckel ,&nbsp;Elizabeth VanSickle ,&nbsp;Lia Zitano ,&nbsp;Salah Ebrahim ,&nbsp;Timothy Moss","doi":"10.1016/j.rare.2024.100041","DOIUrl":"10.1016/j.rare.2024.100041","url":null,"abstract":"<div><p>Deletion of the most distal segment of chromosome 10q in conjunction with duplication of terminal 15q is a rare chromosomal disorder, appearing to be a unique finding within the present literature. We report a 32-year-old male patient with an unbalanced translocation between chromosomes 10 and 15, resulting in a 344 kb terminal deletion of chromosome 10q26.3 and a 41 Mb duplication of chromosome 15q22.2→15q26.3 as a result of a maternally-derived balanced translocation. Patient features included global developmental delay and severe cognitive impairment, significant kyphoscoliosis, diffuse core, extremity, and facial hypotonia, and finger irregularities including broad thumbs, broad fingertips with persistent fetal finger pads, and right-handed flexion contracture. The unique features of the present case, including the age of the patient, may assist in providing a broader understanding of features associated with unbalanced translocations between telomeric portions of chromosomes 10 and 15 as well as provide insight into adult phenotyping which is not currently addressed in available literature.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100041"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000243/pdfft?md5=916cad236ae86ff569f9f1457e72eecd&pid=1-s2.0-S2950008724000243-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142149829","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":"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}