Results 91 to 100 of about 3,772,071 (245)
ABSTRACT Objective To compare the incidence of diabetes mellitus and its associations with hospitalisation and mortality in adults with multiple sclerosis (MS) and matched controls. Methods Using English primary care data from the Clinical Practice Research Datalink, linked to hospital and mortality records, we matched adults with MS with up to 10 ...
Yolanda Lau +8 more
wiley +1 more source
Background Developmental and epileptic encephalopathy-73 (DEE73, OMIM: #618379) is a rare autosomal dominant genetic disorder. This study reports a novel de novo RNF13 variant in a Chinese patient, aiming to assess its pathogenicity and expand ...
Qiang Zhang +5 more
doaj +1 more source
Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß +22 more
wiley +1 more source
Objective Race and household income impact outcomes in patients with rheumatic conditions; however, their role in pediatric antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis (AAV) remains poorly understood. We aimed to evaluate whether race and ethnicity and household income are associated with severe AAV disease and renal outcomes among
Roberto Alejandro Valdovinos +2 more
wiley +1 more source
Black and white photo of some beds in an empty ward in Modbury ...
Modbury Hospital
core +1 more source
Black and white photo of two staff members sitting down and having coffee in the Modbury Hospital ...
Modbury Hospital
core +1 more source
Intractable thrombocytopenia in a patient with atypical ataxia-telangiectasia: a case report
Background Ataxia-telangiectasia (A-T) is an infrequent autosomal recessive multisystemic disorder caused by ATM variants. It is characterized by progressive cerebellar ataxia, telangiectasia, susceptibility to malignancies and variable immunodeficiency.
Chunyu Gu +5 more
doaj +1 more source
Objective To evaluate whether extending the American College of Rheumatology–recommended monitoring interval for complete blood count and liver function tests in patients receiving methotrexate (MTX) affects timely detection of medication‐related toxicity.
Spencer Simko +4 more
wiley +1 more source
Background Gastroschisis is a common abdominal wall defect that increases infant mortality risk and health care costs. However, recent epidemiological data on gastroschisis in China is limited.
Yuyang Gao +7 more
doaj +1 more source

