Ji, Yi Chen, Siyuan Xia, Chuncao Zhou, Jiangyuan Jiang, Xian Xu, Xuewen Yang, Kaiying Zhang, Xuepeng Kong, Feiteng Lu, Guoyan
...
Published in
Orphanet Journal of Rare Diseases
ObjectivesThere are no cohort studies of chronic lymphedema in patients with kaposiform hemangioendothelioma (KHE). We sought to characterize the incidence, clinical features, risk factors and management of chronic lymphedema in patients with KHE.MethodsWe conducted a multicenter retrospective analysis of patients who had a minimum of 3 years of fo...
Wang, Mu Li, Yueting Cao, Yihan Lu, Xinyu Liu, Yuchen Zhao, Jizhi Zhang, Wen Li, Chen
Published in
Orphanet Journal of Rare Diseases
BackgroundMandible osteomyelitis can occur in synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, a rare chronic inflammatory disease; however, few studies have explored its characteristics and management.MethodsWe reviewed the medical records of consecutive SAPHO patients with mandible involvement diagnosed in Peking Union Me...
Gunne, Emer McGarvey, Cliona Hamilton, Karina Treacy, Eileen Lambert, Deborah M. Lynch, Sally Ann
Published in
Orphanet Journal of Rare Diseases
AimsTo ascertain the number of paediatric deaths (0–14 years) with an underlying rare disease in the Republic of Ireland between the years 2006–2016, and to analyse bed usage by a paediatric cohort of rare disease inpatients prior to in-hospital death.BackgroundRare diseases are often chronically debilitating and sometimes life-threatening diseases...
Margutti, Ana Vitoria Barban Silva, Wilson Araújo Jr. Garcia, Daniel Fantozzi de Molfetta, Greice Andreotti Marques, Adriana Aparecida Amorim, Tatiana Prazeres, Vânia Mesquita Gadelha Boy da Silva, Raquel Tavares Miura, Irene Kazue Seda Neto, João
...
Published in
Orphanet Journal of Rare Diseases
BackgroundMaple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by BCKDHA, BCKDHB, DBT, and DLD genes. MSUD is predominantly caused by Variants in BCKDHA, BCKDHB, and DBT gen...
Bender, Tim T. A. Leyens, Judith Sellin, Julia Kravchenko, Dmitrij Conrad, Rupert Mücke, Martin Seidel, Matthias F.
Published in
Orphanet Journal of Rare Diseases
BackgroundRare diseases (RDs) in rheumatology as a group have a high prevalence, but randomized controlled trials are hampered by their heterogeneity and low individual prevalence. To survey the current evidence of pharmacotherapies for rare rheumatic diseases, we conducted a systematic review and meta-analysis. Randomized controlled trials (RCTs) ...
Caciotti, Anna Procopio, Elena Pochiero, Francesca Falliano, Silvia Indolfi, Giuseppe Donati, Maria Alice Ferri, Lorenzo Guerrini, Renzo Morrone, Amelia
Published in
Orphanet Journal of Rare Diseases
We describe a 14-month-old boy, with a previous diagnosis of propionic acidemia (PA) by expanded newborn screening, who, admitted for a suspected metabolic crisis, tested positive for SARS-CoV-2. Since propionic acidemia was diagnosed, the patient has followed the recommended diet for this inborn error of metabolism. Although propionic acidemia pat...
Yuan, Shi-Min
Published in
Orphanet Journal of Rare Diseases
BackgroundA parachute tricuspid valve is a very rare congenital cardiac anomaly. Its morphological features and clinical implications have not been sufficiently described so far. The purpose of the present systematic review is to disclose the morphological and clinical characteristics of parachute tricuspid valve, and to discuss its diagnostic meth...
Dong, Dong Chung, Roger Yat-Nork Chan, Rufina H. W. Gong, Shiwei Xu, Richard Huan
Published in
Orphanet Journal of Rare Diseases
BackgroundFor patients with rare diseases (RD), misdiagnosis (or erroneous diagnosis) is one of the key issues that hinder RD patients’ accessibility to timely treatment. Yet, little is known about the main factors that are associated with RD patients’ misdiagnosis. The objective of this study is to analyze data from a national survey among 2040 RD...
Mueller, Markus S. Sidharta, Patricia N. Voors-Pette, Christine Darpo, Borje Xue, Hongqi Dingemanse, Jasper
Published in
Orphanet Journal of Rare Diseases
BackgroundFabry disease is a rare inherited glycosphingolipid storage disorder caused by deleterious mutations in the GLA gene coding for the lysosomal enzyme α-galactosidase A. The glucosylceramide synthase inhibitor lucerastat is an iminosugar with potential to provide oral substrate reduction therapy in Fabry disease, regardless of the patient´s...
Marques, João Pedro Carvalho, Ana Luísa Henriques, José Murta, Joaquim Neto Saraiva, Jorge Silva, Rufino
Published in
Orphanet Journal of Rare Diseases
BackgroundThe development of multicenter patient registries promotes the generation of scientific knowledge by using real-world data. A country-wide, web-based registry for inherited retinal dystrophies (IRDs) empowers patients and community organizations, while supporting formal partnerships research. We aim to describe the design, development and...
