Results 41 to 50 of about 33,870 (219)

Reliability of Standardized Assessment for Adults who are Deafblind [PDF]

open access: yes, 2011
This study assessed the reliability of the interRAI Community Health Assessment (interRAI CHA) and Deafblind Supplement (DbS). The interRAI CHA and DbS represents a multidimensional, standardized assessment instrument for use with adults (18 and older ...
Ashworth, Melody   +8 more
core   +2 more sources

Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants

open access: yesStem Cell Research, 2021
Usher syndrome 2A (USH2A) is one of the most common genes associated with Usher syndrome type II (USH2) and nonsyndromic autosomal recessive retinitis pigmentosa (arRP).
Tian Zhu   +6 more
doaj   +1 more source

Evaluating Descriptive Metrics of the Human Cone Mosaic [PDF]

open access: yes, 2016
Purpose: To evaluate how metrics used to describe the cone mosaic change in response to simulated photoreceptor undersampling (i.e., cell loss or misidentification).
Carroll, Joseph   +3 more
core   +2 more sources

Sjögren Disease—B Cells at the Brink: From Autoimmunity to Lymphomagenesis and the Rise of Novel B Cell–Targeted Therapies

open access: yesArthritis &Rheumatology, EarlyView.
Sjögren disease (SjD) is a common systemic autoimmune disorder characterized by inflammation of the exocrine glands, resulting in dryness. Patients frequently exhibit extraglandular manifestations affecting various organ systems. To date, there are no US Food and Drug Administration (FDA)‐approved disease‐modifying therapies for SjD. In this review, we
Rachael A. Gordon, Sara S. McCoy
wiley   +1 more source

Heterogeneity in Phenotype of Usher-Congenital Hyperinsulinism Syndrome:Hearing Loss, Retinitis Pigmentosa, and Hyperinsulinemic Hypoglycemia Ranging from Severe to Mild with Conversion to Diabetes [PDF]

open access: yes, 2013
OBJECTIVE: To evaluate the phenotype of 15 children with congenital hyperinsulinism (CHI) and profound hearing loss, known as Homozygous 11p15-p14 Deletion syndrome (MIM #606528).
Al Mutair, Angham N   +6 more
core   +1 more source

Evaluating and leveraging large language models in clinical pharmacology and therapeutics assessment: From exam takers to exam shapers

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Aims In medical education, the ability of large language models (LLMs) to match human performance raises questions about their potential as educational tools. This study evaluates LLMs' performance on Clinical Pharmacology and Therapeutics (CPT) exams, comparing their results to medical students and exploring their ability to identify poorly formulated
Alexandre O. Gérard   +11 more
wiley   +1 more source

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients [PDF]

open access: yes, 2015
Both Novel missense alleles identified in MYO7A genes are conserved between human, zebrafish and Drosophila melanogaster.
Binbin Wang   +10 more
core   +2 more sources

Advances in GPCRs Associated With Wnt Signaling Within the Auditory System

open access: yesMedicine Bulletin, EarlyView.
ABSTRACT G protein‐coupled receptors (GPCRs) that interact with the Wnt signaling pathway are pivotal for auditory system homeostasis, as they orchestrate inner ear development, hair cell (HC) regeneration, and hearing preservation. Frizzled (FZD) receptors, the core Wnt‐related GPCRs, bind Wnt ligands and co‐receptors (e.g., LRP5/6) to activate both ...
Liang Wang   +3 more
wiley   +1 more source

Data privacy model using blockchain reinforcement federated learning approach for scalable internet of medical things

open access: yesCAAI Transactions on Intelligence Technology, EarlyView.
Abstract Internet of Medical Things (IoMT) has typical advancements in the healthcare sector with rapid potential proof for decentralised communication systems that have been applied for collecting and monitoring COVID‐19 patient data. Machine Learning algorithms typically use the risk score of each patient based on risk factors, which could help ...
Chandramohan Dhasaratha   +9 more
wiley   +1 more source

Cone Spacing Correlates With Retinal Thickness and Microperimetry in Patients With Inherited Retinal Degenerations. [PDF]

open access: yes, 2019
PurposeTo determine whether high-resolution retinal imaging measures of macular structure correlate with visual function over 36 months in retinal degeneration (RD) patients and normal subjects.MethodsTwenty-six eyes of 16 RD patients and 16 eyes of 8 ...
Baldwin, Angela   +8 more
core   +1 more source

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