International Journal of Rare Diseases & Disorders最新文献

{"title":"Interventions in Mowat Wilson Syndrome: A Scoping Review","authors":"Monika Dolik-Michno, Linn Johnels, Magnus Starbrink, Helena Wandin, Lena Svedberg","doi":"10.23937/2643-4571/1710056","DOIUrl":"https://doi.org/10.23937/2643-4571/1710056","url":null,"abstract":"Mowat-Wilson syndrome (MWS) is a rare autosomal dominant condition caused by a heterozygous mutation or deletion of the ZEB2 gene. The syndrome occurs in both sexes but is potentially more frequently diagnosed in males. The number of new cases is estimated to be 1 in 50,000-70,000 born children. MWS is characterised by a distinctive facial appearance in association with intellectual disability (ID) and a range of other features including epilepsy, and Hirschsprung disease, microcephaly, agenesis of the corpus callosum and congenital heart defects. Epilepsy is considered a main manifestation of the syndrome and affects approximately 80% of individuals with MWS. Developmental milestones are delayed, and speech is limited to a few words. Behavioural and emotional difficulties have also been reported. This scoping review aimed to identify the existing literature on interventions targeting individuals with MWS and identify gaps in order to guide future research. A search yielded six studies that encompassed a total of 34 participants, both males and females, with an age span of three months to 45-years-old. The focus of the studies included was medical treatment of epilepsy and surgery for Hirschsprung’s disease, with mixed results. One study reported improvement of behavioural problems using psychopharmacological management. Four of the six selected studies had a case-report design. The quality appraisal revealed heterogeneity in the level of details reported and the overall quality of the studies. Hence, the generalisability of the results should be interpreted with caution. This scoping review shows that studies of interventions targeting symptoms in individuals with MWS are still very scarce. As MWS is a rare disease, it is difficult to conduct randomized controlled trials at a group level. One viable alternative could be single case experimental design studies (SCED) which can reveal experimental effects with just one case. Aggregated findings from such designs can also facilitate recommendations of evidence-based interventions for individuals with rare disorders. The studies included mainly examined physical health, but other factors also may improve an individual’s well-being. Intervention studies in other research areas, for instance, communication, motor functioning, learning and behaviour and participation in daily life activities are therefore called for. It would also be of interest to further examine how functioning in different areas correlates with quality of life for individuals with MWS.","PeriodicalId":227434,"journal":{"name":"International Journal of Rare Diseases & Disorders","volume":"102 50","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139134910","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":"Buerger’s Disease (Thromboangiitis Obliterans) among Smokers: A Literature Review","authors":"Fardhani Ichlasul Mahdi","doi":"10.23937/2643-4571/1710050","DOIUrl":"https://doi.org/10.23937/2643-4571/1710050","url":null,"abstract":"","PeriodicalId":227434,"journal":{"name":"International Journal of Rare Diseases & Disorders","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128571822","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":"Development of an Innovative SQL-Based Approach to Identify Potential Patients with Neurotransmitter Disorders","authors":"Fox Emily, Mehta Vishal, Madhu Rajesh, Wassmer Evangeline, Arora Ruchi, Cox Tony, Heaton Dave, Granerod Julia, Rance Mark","doi":"10.23937/2643-4571/1710048","DOIUrl":"https://doi.org/10.23937/2643-4571/1710048","url":null,"abstract":"","PeriodicalId":227434,"journal":{"name":"International Journal of Rare Diseases & Disorders","volume":"37 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116793470","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":"Some Rare Neurosurgical Pathologies in a Sub-Saharan Tertiary Hospital","authors":"SC Ohaegbulam, C. Ndubuisi, O. Okwunodulu","doi":"10.23937/2643-4571/1710049","DOIUrl":"https://doi.org/10.23937/2643-4571/1710049","url":null,"abstract":"","PeriodicalId":227434,"journal":{"name":"International Journal of Rare Diseases & Disorders","volume":"647 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126909531","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":"Follicular Mucinosis in Childhood: A Rare, but Significant Diagnosis","authors":"Rupp Maria Luiza Cimardi, Mello Marice El Achkar, Pereira Amanda Amaro, Pires Maria Marlene de Souza","doi":"10.23937/2643-4571/1710042","DOIUrl":"https://doi.org/10.23937/2643-4571/1710042","url":null,"abstract":"","PeriodicalId":227434,"journal":{"name":"International Journal of Rare Diseases & Disorders","volume":"7 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132135781","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 Rare Disease Advisory Council Expands its Reach into West Virginia Appalachia: A Call to Action","authors":"Falah Nadia","doi":"10.23937/2643-4571/1710041","DOIUrl":"https://doi.org/10.23937/2643-4571/1710041","url":null,"abstract":"","PeriodicalId":227434,"journal":{"name":"International Journal of Rare Diseases & Disorders","volume":"98 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132332806","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":"Predictors of Quality of Life of Children and Adolescents with Osteogenesis Imperfecta","authors":"Lee Juliana van de Sande, Simoni Genoir, Vanz Ana Paula, Félix Têmis Maria, Xikota João Carlos, Nassar Sílvia Modesto, Rupp Maria Luiza Cimardi, Pires Maria Marlene de Souza","doi":"10.23937/2643-4571/1710043","DOIUrl":"https://doi.org/10.23937/2643-4571/1710043","url":null,"abstract":"","PeriodicalId":227434,"journal":{"name":"International Journal of Rare Diseases & Disorders","volume":"182 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133302829","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":"Yellow Nail Syndrome: When Management Seems More Intriguing Than the Diagnosis","authors":"Konstantinos Porpodis, I. Filippou, I. Tsiouprou, T. Kontakiotis","doi":"10.23937/2643-4571/1710040","DOIUrl":"https://doi.org/10.23937/2643-4571/1710040","url":null,"abstract":"","PeriodicalId":227434,"journal":{"name":"International Journal of Rare Diseases & Disorders","volume":"44 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"117310662","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":"Peripheral T-Cell Lymphomas in Algeria: Results from a Multicenter Registry Study","authors":"Belarbi Nadia Boudjera, Bekadja Mohamed Amine, Abad Mohand Tayeb, Webb David, Grifi Fatiha","doi":"10.23937/2643-4571/1710039","DOIUrl":"https://doi.org/10.23937/2643-4571/1710039","url":null,"abstract":"","PeriodicalId":227434,"journal":{"name":"International Journal of Rare Diseases & Disorders","volume":"34 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116311281","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":"Morbidity Risk across the Lifespan for Adults with Spinal Muscular Atrophy: A Retrospective Cohort Study","authors":"Whitney Daniel G, Knierbein Erin E Neil, Daunter Alecia K","doi":"10.23937/2643-4571/1710054","DOIUrl":"https://doi.org/10.23937/2643-4571/1710054","url":null,"abstract":"Background: Recently approved treatments for spinal muscular atrophy (SMA) may shift clinical care priorities to secondary complications associated with SMA-related aging. To date, there is little knowledge about the natural history of morbidities across the adult lifespan for SMA. The objective of this study was to identify the risk of various morbidities among adults with vs. without SMA prior to SMA-related treatment. Methods: This was a retrospective cohort study that accessed Medicare fee-for-service and commercial claims data from 01/01/2008-12/22/2016. Data from adults ≥ 18-years-old with SMA and without SMA matched (1:200 case:control) on demographics, region, and study entry year were included. The prevalence of 30 morbidities across physiologic systems (e.g., cardiovascular, metabolic, musculoskeletal, urinary) and mental health disorders was examined. Age-and sex-adjusted odds ratio (OR) was estimated using logistic regression for each morbidity and effect modification by age and sex was tested. Results: There were 2,427 adults with SMA (mean [SD] age, 59.7 [17.4] years; 49.0% female) and 484,528 matched adults without SMA. Adults with vs. without SMA had a higher prevalence and adjusted OR of all 30 morbidities, ranging from OR = 1.61 (95% CI = 1.45-1.80) for hypothyroidism to OR = 7.80 (95% CI = 7.10-8.57) for fluid/electrolyte disorders. There was effect modification by age for 24 morbidities. The OR was highest for the youngest age group (18-40 years; OR range, 2.38 to 117.7; all P < 0.05) and declined with older age groups, but still remained significantly elevated in the oldest age group (≥ 75 years; OR range, 1.30 to 5.96; all P < 0.05). Conclusion: The limitations of this study are that evidence of morbidities were limited to diagnostic claims and information on SMA type and symptoms or onset were not available. In conclusion, adults with SMA had a higher and earlier risk of a variety of morbidities across physiological systems and mental health disorders.","PeriodicalId":227434,"journal":{"name":"International Journal of Rare Diseases &amp; Disorders","volume":"9 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125903506","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}