Results 101 to 110 of about 45,022 (264)

Toxic optic neuropathy from heavy metal exposure: A comprehensive review and case reports

AJO International
Purpose: This article explores heavy metal toxicity as a significant cause of optic neuropathy, and aims to raise awareness among ophthalmologists evaluating patients affected, to a cause that is often not on their radar.
Mohammed Saeed, Luai Eldweik
doaj   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

Developmental Dynamics, EarlyView.
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard, Lauren Clarissa Tang, Beatrix Ueberheide, Lisa A. Taneyhill   +3 more
wiley   +1 more source

Micronutrient Status in Children Suffering From Anorexia Nervosa: A Cohort of 349 Patients in a Referral Center for Eating Disorders

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Anorexia nervosa (AN) is a serious illness in which more than half of all deaths are due to malnutrition. Critically low energy and protein intake are known causes of massive weight loss, whereas micronutrient deficiencies due to a low‐calorie food pattern remain poorly characterized in children with AN. Micronutrient deficiencies in
Zenaida Iordan, Diane Morfin, Marion Bernetiere, Marie Fauchet, Noël Peretti, Bérénice Segrestin, Pierre Poinsot   +6 more
wiley   +1 more source

Commonalities of platelet dysfunction in heart failure with preserved ejection fraction and underlying comorbidities

ESC Heart Failure, Volume 12, Issue 2, Page 1013-1028, April 2025.
Abstract Heart failure with preserved ejection fraction (HFpEF) is characterized by a lack of a specific targeted treatment and a complex, partially unexplored pathophysiology. Common comorbidities associated with HFpEF are hypertension, atrial fibrillation, obesity and diabetes.
Giorgia D'Italia, Blanche Schroen, Judith M.E.M. Cosemans   +2 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Delphi consensus on Thoroughbred yearling sales endoscopy in Australasia

Equine Veterinary Journal, EarlyView.
Abstract Background Concerns regarding the reliability and consistency of yearling sales endoscopy in Australia and New Zealand have led to reduced industry confidence. Recent studies have clarified the relationship between yearling laryngeal function (YLF) grades and future outcomes.
Josephine L. Hardwick, Benjamin J. Ahern, Brian H. Anderson, Samantha H. Franklin   +3 more
wiley   +1 more source

Fatalities within seven days after equine standing sedation: A prospective, multicentre study

Equine Veterinary Journal, EarlyView.
Abstract Background Information regarding mortality associated with standing procedures in horses is sparse. Objectives To report data from >12,000 standing sedations. Study Design Confidential, observational, prospective, multicentre, cohort study.
Miguel Gozalo‐Marcilla, José I. Redondo, Polly M. Taylor, Luis Domenech, Javier Doménech, Gordon Mark Johnston, Regula Bettschart‐Wolfensberger   +6 more
wiley   +1 more source