Results 191 to 200 of about 489,431 (300)

Geleophysic Dysplasia Associated With FBN1 Mutation: Clinical Course, Valvular Heart Disease, and Response to Recombinant Human Growth Hormone Therapy

open access: yesClinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Geleophysic dysplasia (GD) is a rare genetic condition caused by pathogenic variants in either the ADAMTSL2 or FBN1 gene. We present a patient that combined clinical features consistent with GD, including short stature, delayed bone age, progressive congenital heart disease, and a happy, round face.
Ray Thomas Katbe   +2 more
wiley   +1 more source

Psychosis and brainstem malformations: A case series. [PDF]

open access: yesIndian J Psychiatry
Walve UP   +10 more
europepmc   +1 more source

A Rare Case of Isovaleric Acidemia With Hyperammonemia Caused by Compound Heterozygous IVD Variants: Clinical Features, Molecular Genetics, and Therapeutic Follow‐Up

open access: yesClinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT To improve understanding of isovaleric acidemia (IVA) by analyzing the clinical features, genetic basis, and treatment outcomes of a child with chronic intermittent IVA. A 4‐month‐old infant presenting with lethargy, pallor, and growth retardation was diagnosed with IVA using tandem mass spectrometry (MS/MS), urinary organic acid analysis, and
Zhi Deng   +6 more
wiley   +1 more source

A Review of Vagus Nerve Stimulation for Disease: Comprehensive Theory and Evidence for Mechanisms of Action

open access: yesComprehensive Physiology, Volume 16, Issue 2, April 2026.
Vagus nerve stimulation (VNS) effects span central and peripheral organ systems through diverse mechanistic pathways. This comprehensive review provides a unified synthesis of these mechanisms across neurological, cardiovascular, immunological, metabolic, and gastrointestinal domains, filling a critical gap and serving as a foundational resource for ...
Yifeng Bu   +11 more
wiley   +1 more source

Effects of L‐Tyrosine Ingestion on Endurance Performance in Mentally Fatigued Cyclists

open access: yesEuropean Journal of Sport Science, Volume 26, Issue 4, April 2026.
ABSTRACT This study investigated whether L‐tyrosine supplementation enhances endurance performance in mentally fatigued cyclists. Twelve recreational cyclists completed two constant‐workload tests to exhaustion cycling tests under two experimental conditions at 80% of maximal endurance power output: L‐tyrosine ingestion (300 mg/kg) under mental fatigue
Luiz José Frota Solon‐Júnior   +3 more
wiley   +1 more source

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