Results 211 to 220 of about 62,723 (289)
Abstract This study used photovoice methodology to explore Asian Americans' perspectives on the root causes and protective factors of firearm violence in their communities. Photovoice provided a participatory platform for community members to document lived experiences and identify priorities for change.
Tsu‐Yin Wu +4 more
wiley +1 more source
A Systematic Approach to Managing Acute Visual Loss: A Comprehensive Review of Literature. [PDF]
Hajj F +7 more
europepmc +1 more source
Pathogenic PF4/Polyanion ELISA‐Negative Antibodies in HIT
ABSTRACT Background Platelet factor 4‐polyanion enzyme‐linked immunosorbent assays (ELISAs) are considered highly sensitive for diagnosing heparin‐induced thrombocytopenia (HIT), such that current practice guidelines recommend use of ELISA‐negative results to exclude HIT.
Adam J. Kanack +25 more
wiley +1 more source
The 9th International RASopathies Symposium
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
Optical Coherence Tomography Angiography in Type 1 Diabetes Mellitus. Report 5: Cardiovascular Risk. [PDF]
Rosinés-Fonoll J +16 more
europepmc +1 more source
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle +10 more
wiley +1 more source
Retrolental Opacity: Atypical Manifestation of Lens-Induced Uveitis. [PDF]
Lopez-Zuñiga DI +3 more
europepmc +1 more source
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta +9 more
wiley +1 more source
Safety and Efficacy of Diquafosol Compared to Artificial Tears for the Treatment of Dry Eye: A Systematic Review and Meta-Analysis. [PDF]
Serrano-Robles JG +6 more
europepmc +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source

