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
Meeting the Need for Corneal Transplantation in Syria: Islamic Perspectives and Barriers to Building a Sustainable Eye Banking System. [PDF]
Madani MT +6 more
europepmc +1 more source
Objective The aim of this study was to determine the differences in demographic, serologic, and clinical characteristics between male and female patients with systemic sclerosis (SSc) in an Australian cohort. Methods This was a retrospective observational study using data from the Australian Scleroderma Cohort Study.
Emily Lin +14 more
wiley +1 more source
Unmet needs and new challenges in young women's sexual and reproductive health and rights: a qualitative study in Chile's Metropolitan Region. [PDF]
Obach A +4 more
europepmc +1 more source
Discordance Between Patient and Physician Global Assessments in Early Systemic Sclerosis
Objective This study aims to identify factors associated with patient global assessment (PtGA) and physician global assessment (PhGA) and discordance between them in systemic sclerosis (SSc). Methods Data from adults with early SSc (<5 years) from the Collaborative National Quality and Efficacy Registry were included.
Ellen Romich +35 more
wiley +1 more source
Viscometric and UV-Visible spectroscopic characterization of L-Ascorbic Acid and Caffeine mixtures: insights into solute-solute and solute-solvent interactions. [PDF]
Dutta T, Talukdar M, Singh S, Panda S.
europepmc +1 more source
Neighborhood Socioeconomic Status and Short‐Term Functional Outcomes in Systemic Lupus Erythematosus
Objective Individuals with systemic lupus erythematosus (SLE) can accumulate functional status (FS) impairment. We evaluated the association between neighborhood socioeconomic disadvantage, as measured by the Area Deprivation Index (ADI), and FS in a national SLE sample.
Baljeet Rai +7 more
wiley +1 more source
Polish Refugees in British Lunatic Asylums, 1836-1879: Authority Figures and Social Control Mechanisms. [PDF]
Harris E.
europepmc +1 more source
Objective This study aimed to describe real‐world trends in preconception and prenatal use of antirheumatic drugs among pregnant individuals with rheumatic diseases in Ontario, Canada. Methods We conducted a time‐series analysis using repeated cross‐sectional data to examine annual patterns of disease‐modifying antirheumatic drug (DMARD) use among ...
Shenthuraan Tharmarajah +6 more
wiley +1 more source

