Results 181 to 190 of about 47,726 (248)

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan   +14 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño   +6 more
wiley   +1 more source

Standardized Reporting of Cardiac Magnetic Resonance Examinations in Children With Cardiac Diseases and Adults With Congenital Heart Disease: A Scientific Statement From the Association for European Pediatric and Congenital Cardiology (AEPC) and the International Society for Magnetic Resonance in Medicine (ISMRM)

open access: yes
Journal of Magnetic Resonance Imaging, EarlyView.
Francesca Raimondi   +26 more
wiley   +1 more source

Toxicity Differences Between Microplastics and Nanoplastics in Organs: From Molecular Mechanisms to Potential Therapeutic Strategies

open access: yesMed Research, EarlyView.
This review systematically compares the size‐dependent toxicity of microplastics and nanoplastics in the intestine, liver, kidney, lung, and brain. Particle size determines bioavailability, barrier penetration, and injury mechanisms. Because of their small size and high surface reactivity, NPs readily cross the intestinal epithelium and blood–brain ...
Yixian Cheng   +14 more
wiley   +1 more source

AGRN‐, LRP4‐, MUSK‐Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms

open access: yesMuscle &Nerve, EarlyView.
ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles   +5 more
wiley   +1 more source

Current enteral feeding practices for premature infants in neonatal intensive care units in the Middle East and North Africa. [PDF]

open access: yesJPGN Rep
Metwally MH   +10 more
europepmc   +1 more source

Current state of neonatal intestinal rehabilitation care in North America: A descriptive survey‐based study

open access: yesNutrition in Clinical Practice, EarlyView.
Abstract Background Multidisciplinary care under intestinal rehabilitation programs (IRPs) improves survival in pediatric intestinal failure (IF). Professional societies recommend the management of pediatric patients with IF by an IRP. Whether these recommendations are followed in cases of neonatal IF is currently unclear.
Katie A. Huff   +11 more
wiley   +1 more source

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