Journal of rare diseases (Berlin, Germany)最新文献

{"title":"Development of a phone application for assessing fatigue levels in rare disorders: a feasibility and validity study","authors":"Virginia W. T. Chu, Samantha J. Payne, Mackenzie P. Hunter, Stacey Reynolds","doi":"10.1007/s44162-023-00021-y","DOIUrl":"https://doi.org/10.1007/s44162-023-00021-y","url":null,"abstract":"Abstract Purpose Barth syndrome (BTHS) is a rare genetic disorder characterized by skeletal myopathy, cardiomyopathy, and exercise intolerance due to early fatigue. The purpose of this study was to test the feasibility and validity of a new phone application designed to capture multi-dimensional aspects of fatigue across the lifespan. The specific study aims were to (1) assess the feasibility of using the app to record perceived fatigue levels in real-time, (2) evaluate discriminant validity by assessing if the app can differentiate between those with and without BTHS, and (3) content validity by assessing the relationship between perceived energy levels and actual energy expenditure. Methods Eighteen participants with BTHS and 18 age-matched control participants completed the study. The participants wore an activity tracker for 14 days and were prompted to respond to an Android app to report their fatigue levels 6 × /day. Statistical analysis was completed to examine perceived fatigue and the relationship between reported fatigue and actual energy expenditure. Results Feasibility was supported by the majority of participants responding to at least 50% of the application prompts and scores indicative of good internal consistency between responses (92–95%) and reliability of the battery scale ( p < .001). Discriminant validity of the app was only partially supported, with the number of “crashes” being significantly different between those with and without BTHS ( p = 0.042). Other measures of perceived fatigue were not found to be significantly different between groups, even though individuals with BTHS showed significantly lower energy expenditure than control participants during the day as measured by actigraphy ( p < 0.001). Content validity of the app was supported, with perceived energy levels significantly correlating with actual energy expenditure collected with the activity tracker ( p < 0.001). Conclusions In summary, the phone app developed by our team allowed researchers to capture the lived experience of individuals with BTHS while also capturing objective data. We verified that the app was able to consistently and accurately capture participant-reported fatigue. The battery scale tested as part of our feasibility aim was successful in capturing perceived levels of energy and can be used as a valid measure of fatigue in future studies. It was interesting to note that “crashes” appear to be the main differentiating factor in fatigue between the BTHS and control participants, where other measures of perceived fatigue were not found to be significantly different. These results highlight the complex nature of measuring fatigue as a subjective construct. This study provides foundational information on methods for quantifying fatigue in adults, adolescents, and children with BTHS and can provide possible targets for future therapeutic trials.","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":"13 4","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135585087","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":"The National Israeli Registry for Oculo-Pharyngeal Muscular Dystrophy (IsrO-PMD): rationale and design","authors":"Jonah E. Stern, Alex Zvulunov, Amir Dori, Hagit Charas, Limor Benyamini, Guy Ben Simon, Lilya Mentzer, Lior Greenbaum, Silvina Friedlander-Barenboim, Shahar Shelly","doi":"10.1007/s44162-023-00020-z","DOIUrl":"https://doi.org/10.1007/s44162-023-00020-z","url":null,"abstract":"Abstract Background Oculo-pharyngeal muscular dystrophy (OPMD) is a rare disease, caused by trinucleotide repeat expansion in the PABPN1 gene, inherited in an autosomal dominant (AD) manner. Its main features are eyelid ptosis and dysphagia, which manifest at the end of the fifth decade of life. Other symptoms include proximal muscle weakness and bulbar muscle weakness. Although OPMD is prevalent worldwide, a higher prevalence has been reported in the Jewish population from Bukhara. Currently, no specific drugs are available for OPMD. Objective Our National Israeli Registry for Oculo-Pharyngeal Muscular Dystrophy (IsrO-PMD) study aims to provide a framework for the assessment and documentation of the natural history of the diseases as we as a multi-disciplinary management of patients with OPMD. The IsrO-PMD may be the cornerstone of future clinical trials for novel therapies for OPMD. Methods The IsrO-PMD is a national prospective registry that involves non-interventional data collection based on the Global Rare Diseases Patient Registry (GRDPR) and data repository standard. Inclusion criteria are clinical diagnosis of OPMD and positive genetic testing. Patients who meet inclusion criteria will be examined using a series of multi-disciplinary investigations and questionnaires including periodic follow-up examinations. Specific attention is given to comprehensive neurological, swallowing, and ophthalmological evaluations. Discussion The establishment of this national registry will enhance our understanding of the natural history of OPMD, establish quality care benchmarks, and develop treatment strategies in addressing the multi-system pathophysiology of the disease and associated comorbidities. Our registry provides a foundation for the use of new cutting-edge treatments as they become available.","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":"174 4","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135161520","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":"Insulin resistance syndrome presenting with diabetic ketoacidosis — a rare presentation","authors":"Nisha Batra, Kirandeep Kaur, Kavita Kadian, Kalyani Sridharan, Nisha Batra","doi":"10.1007/s44162-023-00018-7","DOIUrl":"https://doi.org/10.1007/s44162-023-00018-7","url":null,"abstract":"Abstract We report an adolescent male who presented with diabetic ketoacidosis (DKA). He was diagnosed to have type 1 diabetes mellitus at the age of 12 years and had been initiated on insulin. On physical examination, he had a distinct senile-looking coarse facies with clinical stigmata of insulin resistance in the form of acanthosis nigricans and hypertrichosis. Additionally, he required more than 3 units/kg/day of insulin during recovery from DKA. The clinical and biochemical profile of the patient led to the suspicion of insulin resistance syndrome which was confirmed by the detection of homozygous missense variation in exon 2 of the insulin receptor gene ( INSR ) on clinical exome testing. The patient was put on insulin sensitizers along with insulin which led to a marked improvement in glycemic control. The case highlights the importance of a good clinical examination for a correct diagnosis and discusses the challenges in management.","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":"50 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134947221","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":"Overall assessment of patients with type 1 Gaucher disease: a single-centre’s experience","authors":"Huseyin Dursun, Esra Yildizhan, Fahri Bayram","doi":"10.1007/s44162-023-00019-6","DOIUrl":"https://doi.org/10.1007/s44162-023-00019-6","url":null,"abstract":"Abstract Purpose To evaluate the demographic and clinical data of patients with type 1 Gaucher disease, a rare disease, at a single centre. Methods The data of patients with type 1 Gaucher disease who were followed up at the Endocrinology Department of Erciyes University’s Medical Faculty Hospital between 2019 and 2021 were evaluated. Results We evaluated 13 patients with type 1 Gaucher disease who were diagnosed or followed up at our centre and whose data could be accessed. Four of the patients were male, and nine were female. The mean age at the time of diagnosis was 33 (± 11.32) years. Hepatomegaly was present in 11 of the 13 patients. Eight of the 13 patients had splenomegaly. Three patients had undergone splenectomy. The liver and spleen dimensions of two patients were normal. The platelet count was normal in three of the 10 patients without a history of undergoing splenectomy. Bone densitometry revealed that six patients had a lumbar z-score of ≤ − 2.5. Five patients had a score between − 1 and − 2.5, and two patients had a normal z-score. The mean treatment duration was 36 (± 19.46) months. All our patients were administered enzyme replacement therapy. Conclusion Gaucher disease is a rare lysosomal storage disease that affects many systems. It causes irreversible morbidity in patients in whom diagnosis is delayed. The main treatment modality was enzyme replacement therapy. Because it is a rare and multisystemic disease, patients should be followed up at centres with experience in treating Gaucher disease.","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":"52 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135791279","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":"Swyer syndrome: a rare cause of primary amenorrhea","authors":"Ujjwala Sandilya, Sangam Jha","doi":"10.1007/s44162-023-00016-9","DOIUrl":"https://doi.org/10.1007/s44162-023-00016-9","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":"2 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41546449","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":"Fibroadipose vascular anomaly successfully treated with sirolimus: experience in 3 children","authors":"Aman Chaudhary, S. Rastogi, A. Goyal, A. Barwad, Swasthik Upadhya P.","doi":"10.1007/s44162-023-00015-w","DOIUrl":"https://doi.org/10.1007/s44162-023-00015-w","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":"2 1","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2023-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41964030","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 case report of unexplained persistent conjugated hyperbilirubinemia with normal liver transaminases over 23 years: remember Dubin-Johnson syndrome!","authors":"Safeer Khan, Danish Ali, Sabi-ur Rehman","doi":"10.1007/s44162-023-00014-x","DOIUrl":"https://doi.org/10.1007/s44162-023-00014-x","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":" ","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45447586","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":"Neuro-cognitive complications of nephropathic cystinosis","authors":"D. Trauner","doi":"10.1007/s44162-023-00013-y","DOIUrl":"https://doi.org/10.1007/s44162-023-00013-y","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49541294","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":"Egyptian Gaucher disease type 3 patients: a large cohort study spanning two decades","authors":"A. El‐Beshlawy, Khaled Abdel-Azim, A. Abdel-Salam, Yasmeen Selim, Fadwa Said, Nadine A. Gebril, E. Fateen, P. Mistry","doi":"10.1007/s44162-023-00011-0","DOIUrl":"https://doi.org/10.1007/s44162-023-00011-0","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":" ","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47249258","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 brief insight into the rare diseases in Egypt","authors":"Tarek Taha, Dina Ahmed, Zaynab El-Gammal, Gehad Atef Oura, S. Elshenawy, Yasmine Gaber, Tarek Elnagdy, Khaled Amer","doi":"10.1007/s44162-023-00010-1","DOIUrl":"https://doi.org/10.1007/s44162-023-00010-1","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":" ","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44505790","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}