Results 91 to 100 of about 246,426 (290)
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti +12 more
wiley +1 more source
Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa +2 more
wiley +1 more source
Systematic review of MRI safety literature in relation to radiofrequency thermal injury prevention
Journal of Medical Radiation SciencesIntroduction Magnetic resonance imaging (MRI) is a rapidly evolving modality, generally considered safe due to lack of ionising radiation. While MRI technology and techniques are improving, many of the safety concerns remain the same as when first ...
Cassandra Baker +4 more
doaj +1 more source
Elexacaftor–Tezacaftor–Ivacaftor Improves Sinonasal Outcomes in Young Children With Cystic Fibrosis
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Severe chronic rhinosinusitis (CRS) is a near universal manifestation of cystic fibrosis. Elexacaftor/tezacaftor/ivacaftor (ETI) is an oral, small molecule, highly effective Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) corrector–potentiator drug.
Amanda L. Stapleton +10 more
wiley +1 more source
Compliance with radiation protection among radiographers in Eswatini public health facilities
Health SA Gesondheid: Journal of Interdisciplinary Health SciencesBackground: The consequence of non-compliance with patient radiation safety standards increases unnecessary radiation exposure with high chances of harmful biological effects.
Amelia Shungube, Thandokuhle E. Khoza
doaj +1 more source
Animal Models and Experimental Medicine, EarlyView.This study demonstrates that using a Pedicle screw‐Rod configuration for the external fixation of non‐articular tibial osteotomy aligns well with the principles of biological osteosynthesis, resulting in secondary bone healing characterized by callus formation and neovascularization.
Mohammad Mahdi Gooran +3 more
wiley +1 more source
Research advances in dysphagia animal models
Animal Models and Experimental Medicine, EarlyView.This review systematically summarizes the establishment, evaluation, and detection of dysphagia animal models in stroke, Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS) in three kinds of experimental animals (including rodents, nonhuman primates, and other mammals), providing a basis for the selection of appropriate animal models of ...
Junhui Bai +5 more
wiley +1 more source