Rare最新文献

{"title":"Undeleting the voice of people with 22q11 deletion syndrome: A scoping review","authors":"Sophie Ayoub,&nbsp;Bernice S. Elger,&nbsp;Eva De Clercq","doi":"10.1016/j.rare.2024.100033","DOIUrl":"10.1016/j.rare.2024.100033","url":null,"abstract":"<div><h3>Background</h3><p>22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans characterized by widely variable clinical manifestations. The resulting health challenges impact the well-being and quality of life of the affected individuals and their families. Although the opinion of formal and informal caregivers is of high importance, little literature discusses the perspective of the affected individuals themselves on what it means to live with a chronic condition like 22q11DS. The objective of this scoping review is to give a holistic view of the lived experiences of people diagnosed with 22q11DS by critically synthesizing the existing empirical literature on the topic.</p></div><div><h3>Methods</h3><p>We systematically searched six databases: PubMed, Embase, Scopus, CINAHL, Web of Science and Psychinfo and used Google Scholar to cover also grey literature. We included only empirical studies regardless of the methodology used and we followed the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR).</p></div><div><h3>Results</h3><p>This scoping review resulted in the analysis of 11 papers. Children, adolescents and older adults with 22q11DS were less represented in the retrieved studies compared to young adults. Two themes and various subthemes were identified. Regarding daily life challenges, supported independence is a subject commonly explored, but also the desire to be with others and knowledge around 22q11DS were widely discussed. Additionally, in this review, family support, societal care and professional healthcare services touch upon the social support and healthcare services. Multidisciplinary and transitional care were considered essential but lacking among medical institutions.</p></div><div><h3>Conclusions</h3><p>Further and more inclusive studies of individuals with 22q11DS are required to aid formal and informal caregivers in providing a more patient-centered support and thus to improve the overall well-being of people living with 22q11DS.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100033"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000164/pdfft?md5=d87c98a163370378594f9cfcf70adf01&pid=1-s2.0-S2950008724000164-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141038104","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":"Transthyretin amyloid cardiomyopathy in France: A cross-sectional multi-centre study (333 patients)","authors":"Thibaud Damy ,&nbsp;Erwan Donal ,&nbsp;Olivier Lairez ,&nbsp;Jean-Christophe Eicher ,&nbsp;Mounira Karoubi ,&nbsp;Jean-Noël Trochu ,&nbsp;Jocelyn Inamo ,&nbsp;Gilbert Habib ,&nbsp;François Roubille ,&nbsp;Albert Hagège ,&nbsp;Flore Morio ,&nbsp;Eve Cariou ,&nbsp;Jérôme Adda ,&nbsp;Vincent Algalarrondo ,&nbsp;Agathe Coste ,&nbsp;Mathilde Bartoli ,&nbsp;Jérémie Rudant ,&nbsp;Lara Salvi ,&nbsp;Bruno Francou ,&nbsp;Anne Guiochon-Mantel ,&nbsp;Michel Slama","doi":"10.1016/j.rare.2024.100021","DOIUrl":"10.1016/j.rare.2024.100021","url":null,"abstract":"<div><h3>Aims</h3><p>We designed a two-part epidemiological study, an observatory for amyloid transthyretin amyloidosis (OBSAMYL). The first objective was to identify and count the number of patients diagnosed with ATTR amyloidosis in participating French centres. The second was to evaluate the use and safety profile of tafamidis meglumine in real-world settings.</p></div><div><h3>Methods</h3><p>This was a non-interventional descriptive retrospective multi-centre national study. A census was conducted to estimate the number of patients diagnosed with ATTR amyloidosis who were still alive at the time of the study (defined as 1 June 2017). Patients with ATTR amyloidosis were contacted by French centres from the French Rare Diseases network program. Patients aged ≥18 years with hereditary transthyretin-mediated amyloidosis (ATTRv) or wild-type transthyretin amyloidosis (ATTRwt) or a pathogenic transthyretin (TTR) mutation were eligible.</p></div><div><h3>Results</h3><p>Of the 38 centres (13 cardiology and 25 neurology) invited to participate, 22 (60.5%) (10 cardiology, 12 neurology) participated. There were 333 patients in cardiology census population. Before diagnosis one-fourth of the patients had cardiac decompensation, and one-fifth had a pacemaker. The 177 ATTRwt-CM patients were older (80.1 ± 7.0 years versus 64.2 ± 14.3 years; P &lt; 0.001), had a higher incidence of hypertension (51.4% versus 35.3%; P = 0.003), and a higher incidence of arrhythmia (45.8% versus 28.3%; P = 0.001) than 156 ATTRv patients. There were no differences in disease severity according to New York Heart Association classification. The ATTRv-mixed + CM group had more neurological symptoms (paraesthesia or dysesthesia, neuropathic pain, digestive disorders, and orthostatic hypotension) than the ATTRwt-CM group (P &lt; 0.001). Biopsies were performed on nearly 90% of patients with most of them being positive. The most common biopsy sites were salivary glands (137 biopsies) and cardiac tissues (77 biopsies). Tafamidis meglumine was administered to 174 cardiology patients, including 96 with ATTRv-mixed, 61 with ATTRwt-CM, and 17 with ATTRv-CM. Tafamidis meglumine was generally well tolerated. 18 adverse events, including 12 severe adverse events were reported in 174 patients as safety-related incidents. Tafamidis meglumine was likely responsible for five adverse events, one of which was severe.</p></div><div><h3>Conclusion</h3><p>This study of real-world clinical ATTR amyloidosis cases in France further elucidated the characteristics of and diagnostic approach to a cardiology patient population census of 333 patients. As of June 1, 2017, 177 ATTRwt-CM, 117 ATTRv-mixed, and 39 ATTRv-CM patients were alive. Our experience with tafamidis meglumine in the cardiology population confirmed its good tolerance.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100021"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000048/pdfft?md5=270dd53f5ce70acfa89b2ee33ce1363d&pid=1-s2.0-S2950008724000048-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139828828","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":"First year results and insights from the Mexican Rare Disease Patient Registry","authors":"César E. Calvo Aspiros ,&nbsp;Claudia Gonzaga-Jauregui","doi":"10.1016/j.rare.2024.100046","DOIUrl":"10.1016/j.rare.2024.100046","url":null,"abstract":"<div><div>Rare diseases are defined based on their low-prevalence occurrence in the general population, individually affecting a small number of people, but having a major health and social impact collectively. It is estimated that at least 300 million people live with a rare disorder globally, however the exact numbers are not available for most countries. Patient registries are valuable tools that allow to better understand the prevalence of diseases in the population, the needs of patients and their health outcomes, and provide information for improved healthcare planning. The Mexican Rare Disease Patient Registry is an open, online, self-reporting registry study launched in 2022 to gather information about the prevalence of rare diseases in the Mexican population, the need for access to timely diagnosis, and the challenges faced by patients living with these conditions in the country. We report the analysis and results of the data collected for 144 patients that completed the questionnaire during the first year of the Registry. Results show that the mean time to clinical diagnosis for patients registered during the first year was 8 years, with an average of 6 medical specialists consulted. Additionally, while 71.53 % of registered patients reported having been informed that their condition could have a genetic origin, only 39.58 % were referred to a genetics specialist. Only 27.77 % of patients have had genetic or molecular testing performed, despite more than 80 % of patients reporting positive attitudes towards genetic testing shall it be offered or available to them. Through these initial analyses and data gathered, we are starting to elucidate relevant trends in access to diagnosis, care and treatment for patients living with rare and low-prevalence diseases in Mexico. These data will be useful for better health services planning and addressing the needs of patients and families living with these low-prevalence conditions in the country to ensure better outcomes and quality of life.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100046"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142416945","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":"Noma (Cancrum oris) in Africa: A newly added neglected tropical disease","authors":"Ridwan Olamilekan Adesola ,&nbsp;Favour Akinfemi Ajibade ,&nbsp;Mahmud Ibrahim Agaie","doi":"10.1016/j.rare.2024.100031","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100031","url":null,"abstract":"<div><p>Noma is an overwhelming orofacial necrotizing disease and most cases occur in malnourished people, especially children. It is most common in tropical and subtropical regions of sub-Saharan Africa. Its high death rate, serious physical and psychological morbidity, stigmatization, and social discrimination are all contributing factors. Common public health interventions could prevent, control, and even eradicate noma. However, it is often disregarded when it comes to public health awareness, in-depth scientific research, and funding for prevention, treatment, and research. Noma was added to the list of neglected tropical diseases (NTDs) on December 15, 2023, as it satisfies all WHO criteria for this classification. This paper aims to provide an updated global health review on noma in Africa to reduce its burden on the continent. Healthcare professionals need to be more knowledgeable about noma, and systematic worldwide data collection and documentation regarding noma need to be encouraged to keep track of and eradicate the disease in Africa.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100031"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000140/pdfft?md5=8c1e6e48bf00a08798bf56a84218ce33&pid=1-s2.0-S2950008724000140-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140647535","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":"An expansion of the phenotype in individuals with SYNCRIP-Related Neurodevelopmental Disorder","authors":"Tooba Shafiq ,&nbsp;Joanna L. Feng ,&nbsp;Lindsay Phillips ,&nbsp;Kara Murias ,&nbsp;Marcia Ferguson ,&nbsp;Kristin Baranano ,&nbsp;Alaina Acchione ,&nbsp;Patricia Kipkemoi ,&nbsp;Collins Kipkoech ,&nbsp;Eunice Chepkemoi ,&nbsp;Amina Abubakar ,&nbsp;Charles Newton ,&nbsp;Celia van der Merwe ,&nbsp;Emily O’Heir ,&nbsp;Alice Galvin ,&nbsp;Aixa Gonzalez Garcia ,&nbsp;Alisha D’Souza ,&nbsp;Jennifer Stefanich ,&nbsp;Amelle Shillington ,&nbsp;Annabelle Tuttle ,&nbsp;Madelyn A. Gillentine","doi":"10.1016/j.rare.2024.100052","DOIUrl":"10.1016/j.rare.2024.100052","url":null,"abstract":"<div><div>Disruption of genes within the <em>HNRNP</em> gene family has been observed in neurodevelopmental and neurodegenerative diseases. The HNRNP-Related Neurodevelopmental Disorders (HNRNP-RNDDs), while each unique, have been recently described with similar clinical and molecular features across variation in several genes. However, the phenotypic information on these patients is still lacking. In this case series we aim to describe the phenotypes that are associated with SYNCRIP-Related Neurodevelopmental Disorder (SYNCRIP-RNDD). We describe in depth ten novel individuals and one previously published individual with mostly <em>de novo</em> and predicted damaging variants in <em>SYNCRIP</em>, consistent with a diagnosis of SYNCRIP-RNDD. We also describe previously published patients, many of which are from large cohort studies, as well as individuals from patient databases. Here, we expand the phenotype of SYNCRIP-RNDD beyond a generic neurodevelopmental disorder to a variable syndrome consisting of mild to borderline developmental delay/intellectual disability, speech and language delay, behavioral differences such as autism spectrum disorder, structural brain anomalies, hypotonia, and seizures. Inconsistent dysmorphic features were also observed, with the few recurrent findings including long eyelashes, mildly deep-set eyes, prominent ears, and thin or thick lips. This study increases our understanding of SYNCRIP-RNDD, as well as HNRNP-RNDDs broadly.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100052"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143096972","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":"Family and caregiver perspectives on gene therapy for Rett syndrome","authors":"Keri Ramsey ,&nbsp;Madison LaFleur ,&nbsp;Kiana Robinson ,&nbsp;Mark Borgstrom ,&nbsp;Ashley Ryan ,&nbsp;Vinodh Narayanan ,&nbsp;Valerie Schaibley","doi":"10.1016/j.rare.2024.100045","DOIUrl":"10.1016/j.rare.2024.100045","url":null,"abstract":"<div><h3>Introduction</h3><p>Rett syndrome (RTT) is a neurodevelopmental disorder that primarily affects females and can result in cognitive impairment, seizures, spasticity, breathing problems, gastrointestinal issues, motor impairment, and behavioral concerns. Gene therapy may be a potential treatment in the future as clinical trials are underway.</p></div><div><h3>Aim</h3><p>This study evaluates the attitudes and opinions of family members and caregivers of patients with RTT towards gene therapy using a mixed-method approach.</p></div><div><h3>Methods</h3><p>Sixty-six caregivers of individuals with RTT completed an online survey asking about their previous experience in research and questions about their understanding of gene therapy, their expectations, as well as their hopes and concerns for treating RTT. Ten respondents also participated in online focus groups, which were evaluated using thematic analysis.</p></div><div><h3>Results</h3><p>Overall, most participants (95.5 %) had heard about gene therapy. More than half of the respondents (68.2 %) reported being somewhat knowledgeable about gene therapy, and 18.2 % reported no understanding of gene therapy. When asked the highest level of risk they would accept when enrolling the individual with Rett syndrome in a gene therapy clinical trial, 47.7 % stated they would accept a low risk, and 7.7 % indicated they would accept a high risk. In the focus groups, individuals discussed barriers to gene therapy, their hopes and concerns regarding gene therapy treatment, and how they would like to receive information about future research and therapies. Participants had concerns about possible side effects of gene therapy, including physical and mental harm, a potential decrease in quality of life, whether individuals with RTT would want to “change who they are,” and the irreversibility of the treatment.</p></div><div><h3>Conclusion</h3><p>Although most participants have heard about gene therapy, many caregivers would only accept a low risk when considering gene therapy for the individual with RTT. This could be in part due to concerns about side effects and potential harm to the patient as well as anticipated barriers related to cost and accessibility to appropriate follow-up care. Understanding caregiver opinions is important in setting goals and evaluating the success of current studies, identifying and addressing barriers to trials and treatment, and in the development and implementation of educational resources for gene therapy in RTT.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100045"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000280/pdfft?md5=cb4a3d53ac7ef8de6c552689c039350d&pid=1-s2.0-S2950008724000280-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142243128","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":"Erdheim-Chester disease: Challenges in diagnosing and treating a rare multisystemic disease in Malaysia","authors":"Qinglin Lau ,&nbsp;De Yee Gan ,&nbsp;Soon Ching Gan ,&nbsp;Nor Haisyah Binti Noor Kasim ,&nbsp;Ahmad Zakiyy Bin Mohamed","doi":"10.1016/j.rare.2024.100027","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100027","url":null,"abstract":"<div><p>Erdheim-Chester disease (ECD) or lipoid granulomatosis is a rare non-langerhan cell histiocytosis disease characterised by infiltration of foamy histocytes into the affected organs of different systems. ECD lesions are recognised to cause progressive scarring and fibrosis that pervade multiple organs and systems. Being rare and notoriously insidious, ECD is often diagnosed late. In Malaysia, to date, there is only 1 case report pertaining to this rare disease in which the patient has unfortunately passed away just 4 months after diagnosis. In this case report, we acquired the opportunity to describe the multisystemic involvement of ECD in our patient. Furthermore, over the course of the 27-month endeavour, numerous obstacles have been identified, including our patient's less-than-ideal health-seeking behaviour as well as limitations with regard to imaging, laboratory modalities, and therapeutics. This case will highlight the unique challenges we overcame to solve this clinical conundrum in our publicly funded tertiary hospital in Malaysia.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100027"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000103/pdfft?md5=37453881649a4efc90657014ad150429&pid=1-s2.0-S2950008724000103-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140542572","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":"What influences people’s decision to participate in clinical trials? A qualitative interview study with patients and parents of patients diagnosed with primary membranoproliferative glomerulonephritis (MPGN)","authors":"Rebecca Bruu Carver ,&nbsp;Isabelle Budin-Ljøsne","doi":"10.1016/j.rare.2024.100048","DOIUrl":"10.1016/j.rare.2024.100048","url":null,"abstract":"<div><div>Primary membranoproliferative glomerulonephritis (MPGN) is a group of ultra rare kidney disorders associated with complement activation. MPGN often appears in young age and isincurable. Current treatments have varying efficiency and new clinical trials are underway to identify better and more tailored treatment pathways. We conducted semi-structured digital interviews with an international sample of MPGN patients and parents of MPGN patients to understand how they would make any potential decision to participate in future clinical trials. Six main factors influenced the decision-making process: the trial design and practical aspects, personal motivation, concerns about participation, expert advice, current state of illness, and family situation. More specifically, patients and parents considered important that participation in clinical trials is compatible with work and family life and that the expected side effects are limited. They would be motivated by the prospect of maintaining or improving their kidney function or if their current condition was poor. Providing comprehensive information about the risks and benefits of participation, co-designing trials in partnership with patients and limiting the burdens associated with participation may positively impact recruitment and adherence rates.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100048"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142654382","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":"Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts","authors":"Elizabeth E. Blue ,&nbsp;Samuel J. Huang ,&nbsp;Alyna Khan ,&nbsp;Katie Golden-Grant ,&nbsp;Brenna Boyd ,&nbsp;Elisabeth A. Rosenthal ,&nbsp;Madelyn A. Gillentine ,&nbsp;Leah R. Fleming ,&nbsp;David R. Adams ,&nbsp;Lynne Wolfe ,&nbsp;Aimee Allworth ,&nbsp;Michael J. Bamshad ,&nbsp;Nikeisha J. Caruana ,&nbsp;Sirisak Chanprasert ,&nbsp;Jingheng Chen ,&nbsp;Nitsuh Dargie ,&nbsp;Daniel Doherty ,&nbsp;Marisa W. Friederich ,&nbsp;Fuki M. Hisama ,&nbsp;Martha Horike-Pyne ,&nbsp;Ian A. Glass","doi":"10.1016/j.rare.2024.100040","DOIUrl":"10.1016/j.rare.2024.100040","url":null,"abstract":"<div><p>Biallelic pathogenic variants in <em>UQCRFS1</em> underlie a rare form of isolated mitochondrial complex III deficiency associated with lactic acidosis and a distinctive scalp alopecia previously described in two unrelated probands. Here, we describe a participant in the Undiagnosed Diseases Network (UDN) with a dual diagnosis of two autosomal recessive disorders revealed by genome sequencing: <em>UQCRFS1</em>-related mitochondrial complex III deficiency and <em>GJA8</em>-related cataracts. Both pathogenic variants have been reported before: <em>UQCRFS1</em> (NM_006003.3:c.215–1 G&gt;C, p.Val72_Thr81del10) in a case with mitochondrial complex III deficiency and <em>GJA8</em> (NM_005267.5:c.736 G&gt;T, p.Glu246*) as a somatic change in aged cornea leading to decreased junctional coupling. A multi-modal approach combining enzyme assays and cellular proteomics analysis provided clear evidence of complex III respiratory chain dysfunction and low abundance of the Rieske iron-sulfur protein, validating the pathogenic effect of the <em>UQCRFS1</em> variant. This report extends the genotypic and phenotypic spectrum for these two rare disorders and highlights the utility of deep phenotyping and genomics data to achieve diagnosis and insights into rare disease.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100040"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000231/pdfft?md5=34089144a820807a4d410de477e1dc51&pid=1-s2.0-S2950008724000231-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141997654","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":"Pandemic preparedness needs for children with rare diseases and their families: A perspective of COVID-19 experiences","authors":"Jessica Keeley ,&nbsp;Aysha Stroobach ,&nbsp;Meg Huston ,&nbsp;Andrew Wilson ,&nbsp;Jenny Lam ,&nbsp;Adelaide Withers ,&nbsp;Cornelia van Veldhuisen ,&nbsp;Gareth Baynam ,&nbsp;Jenny Downs","doi":"10.1016/j.rare.2024.100039","DOIUrl":"10.1016/j.rare.2024.100039","url":null,"abstract":"<div><p>People living with rare diseases had a high risk of negative health outcomes due to COVID-19. Pandemic preparedness will ensure best practice procedures and optimal outcomes during future pandemic events. This paper sought to understand the needs of children with rare diseases during the COVID-19 pandemic to inform preparation for future pandemic and disaster events. First, impacts and outcomes from the COVID-19 pandemic on people living with rare disease were identified in the literature. The literature demonstrated that the COVID-19 pandemic had significant and multiple impacts on people with rare diseases. Second, a qualitative descriptive study was conducted, involving members of 17 families with a child with a rare neuromuscular disorder in 2021, to explore COVID-19 pandemic experiences. Qualitative data coded to Bronfenbrenner’s socio-ecological systems model and described impacts on the child’s physical (e.g., respiratory infections), mental (e.g., anxiety), and social (e.g., maintaining connections) health and wellbeing. Families reported resilience and risk factors in their interactions with health and therapy services, and education. Families valued diseases specific information and heightened awareness of infection control across the community. Third, public health guidelines for emergency preparedness were examined to inform recommendations for pandemic and disaster preparedness for people living with rare diseases. Guided by the literature, qualitative data and disaster management frameworks, recommendations that aim to prevent diagnostic delay, optimise coordination of health and social supports, improve education, planning and training, and maintain research and development were identified. The importance of pandemic preparedness for children with rare diseases cannot be understated. Risk and resilience factors in the context of highly individual requirements inform lessons for children living with rare diseases. This study informs future policy and procedure preparation for future pandemic events and other disasters to optimise healthcare of children with rare diseases.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100039"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S295000872400022X/pdfft?md5=7d3981f35e922fd792c7bb34c897643c&pid=1-s2.0-S295000872400022X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142011243","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}