Results 151 to 160 of about 7,170,848 (305)
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
Clinical Characteristics and Concordance of Anti‐MDA5 Antibodies: A Multicenter Australian Study
Objective In Australia, anti‐MDA5 antibodies are exclusively tested by a line immunoblot assay (LIA). The clinical concordance of an LIA‐positive anti‐MDA5 result is unclear. We aimed to describe the clinical features and determine the clinical concordance of patients with anti‐MDA5 antibodies. Methods Electronic records of a multisite cohort (patients
Syed B. Ali +11 more
wiley +1 more source
Measurement of spontaneous fibrinolytic activity [PDF]
openaire +2 more sources
Objective Routine liver enzyme monitoring is advocated for while on allopurinol, but supporting guidance is lacking. We assessed the incidence and factors associated with elevated liver enzyme levels in patients with gout commenced on allopurinol. Methods One hundred and fifty patients with gout and normal baseline serum aminotransferases initiated on ...
May Shuen Tang +4 more
wiley +1 more source
Objective We describe the frequency, risk factors, severity, and management of actionable and serious adverse events (AAE and SAE) in children with newly diagnosed Juvenile Idiopathic Arthritis (JIA) in Canada. Methods We enrolled patients within 3 months of JIA diagnosis in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry,
Bashayer Alnuaimi +10 more
wiley +1 more source
Objective Existing patient‐reported outcome (PRO) measures for systemic sclerosis (SSc) have important limitations, including inadequate coverage of early disease and limited inclusion of diffuse cutaneous (dcSSc) and limited cutaneous (lcSSc) subtypes.
George J. Greene +5 more
wiley +1 more source
Critical neuronal avalanches arise from excitation-inhibition balanced spontaneous activity. [PDF]
Janbon M +6 more
europepmc +1 more source
Entropy‐Driven Design of Low‐Melting‐Point Alloys via Compositionally Complex Strategy
Conventional low‐melting‐point alloys (LMPAs) are limited by a narrow compositional space and inherent property trade‐offs. This review presents an entropy‐driven design strategy that overcomes these limitations, ushering in a new class of low‐melting‐point compositionally complex alloys (LMCCAs).
Yinghui Shang +6 more
wiley +1 more source
Developmental oligodendrocytes regulate brain function through the mediation of synchronized spontaneous activity. [PDF]
Masumura R +3 more
europepmc +1 more source
The degree of Granger causal modeling estimated influence for a brain region was reported to predict its blood oxygenation level-dependent (BOLD) activity level in the resting-state default mode network (DMN).
Chen, Kewei +8 more
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