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Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
Hum Mutat
May 2022
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA.
We assessed genotype-phenotype correlations among the visual, auditory, and olfactory phenotypes of 127 participants with Usher syndrome (USH2) (n =80) or nonsyndromic autosomal recessive retinitis pigmentosa (ARRP) (n = 47) due to USH2A variants, using clinical data and molecular diagnostics from the Rate of Progression in USH2A Related Retinal Degeneration (RUSH2A) study. USH2A truncating alleles were associated with USH2 and had a dose-dependent effect on hearing loss severity with no effect on visual loss severity within the USH2 subgroup. A group of missense alleles in an interfibronectin domain appeared to be hypomorphic in ARRP.
View Article and Find Full Text PDFAuditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).
Am J Med Genet A
December 2021
National Eye Institute, Bethesda, Maryland, USA.
Sensorineural hearing loss (SNHL) is characteristic of Usher syndrome type 2 (USH2), but less is known about SNHL in nonsyndromic autosomal recessive retinitis pigmentosa (ARRP) and olfaction in USH2A-associated retinal degeneration. The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) is a natural history study that enrolled 127 participants, 80 with USH2 and 47 with ARRP. Hearing was measured by pure-tone thresholds and word recognition scores, and olfaction by the University of Pennsylvania Smell Identification Test (UPSIT).
View Article and Find Full Text PDFHow Twitter Can Support the HIV/AIDS Response to Achieve the 2030 Eradication Goal: In-Depth Thematic Analysis of World AIDS Day Tweets.
JMIR Public Health Surveill
November 2018
Amazon, Seattle, WA, United States.
Background: HIV/AIDS is a tremendous public health crisis, with a call for its eradication by 2030. A human rights response through civil society engagement is critical to support and sustain HIV eradication efforts. However, ongoing civil engagement is a challenge.
View Article and Find Full Text PDFBullying Victimization in Schools: Why the Whole School, Whole Community, Whole Child Model Is Essential.
J Sch Health
November 2018
Indiana University of Pennsylvania, Health and Physical Education Program, 232 Zink Hall, Indiana, PA 15705.
Background: Bullying is more likely to happen in schools than in any other location. The purpose of this study is to use decision tree analyses to predict specific risk factors for bullying to identify areas of interest for school-based bullying prevention.
Methods: We obtained data from the 2013 National Crime Victimization Study (NCVS) School Crime Supplement.
The impact of PICALM genetic variations on reserve capacity of posterior cingulate in AD continuum.
Sci Rep
April 2016
Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao, China.
Phosphatidylinositolbinding clathrin assembly protein (PICALM) gene is one novel genetic player associated with late-onset Alzheimer's disease (LOAD), based on recent genome wide association studies (GWAS). However, how it affects AD occurrence is still unknown. Brain reserve hypothesis highlights the tolerant capacities of brain as a passive means to fight against neurodegenerations.
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