Results 71 to 80 of about 17,258 (175)
MRI and Implant Safety at Low‐Field and Ultralow‐Field Strengths
ABSTRACT Despite its unequivocal value in radiological diagnosis, access to conventional high‐field MRI systems remains extremely uneven across the world. Access is particularly limited in underfunded and remote settings, due to the high cost and infrastructure requirements of MRI systems.
Emre Kopanoglu +7 more
wiley +1 more source
Targeted Next‐Generation Sequencing of the Leptin‐Melanocortin Pathway in Severe Obesity
ABSTRACT Objective Pathogenic variants in five established leptin‐melanocortin pathway genes (LEP, LEPR, MC4R, PCSK1, POMC) are associated with severe early‐onset obesity and are targets for emerging treatments. However, these variants are rare in these patients, suggesting the involvement of additional genes interacting with this pathway. Methods Next‐
Nathan Faccioli +12 more
wiley +1 more source
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley +1 more source
ABSTRACT Background Benign paroxysmal positional vertigo (BPPV) is the most common cause of vertigo, yet it remains underdiagnosed and undertreated in emergency departments (EDs). Despite evidence‐based guidelines recommending bedside diagnostic maneuvers (Dix‐Hallpike and supine roll test) and canalith repositioning maneuvers (CRMs), these are ...
Robert Ohle +11 more
wiley +1 more source
We present the first published case of HYPK‐related neurodevelopmental disorder in a male proband with atypical facies, developmental delay, and autism spectrum disorder– like features. HYPK is a part of the NatA complex, like NAA10 and NAA15, with dysfunction leading to similar but milder features to those of Ogden Syndrome.
Rahi Patel +10 more
wiley +1 more source
Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations
Biallelic COL4A2 variants cause a spectrum of brain abnormalities such as brain small vessel disease (BSVD). We describe two cases—one with cerebrovascular disruption and one with cortical malformations—expanding the recessive phenotype. Protein modeling reveals destabilization by p.(Arg179Cys), reinforcing its pathogenic role and highlighting collagen
Anees Muhammad +11 more
wiley +1 more source
Glutamate Delta 1 Receptor in Synapses, Circuits, and Disease
This review discusses our current understanding of the structure–function, expression and roles in neural circuits of the less studied glutamate delta 1 (GluD1) receptor. Converging data suggests many unique features of GluD1 including expression at both excitatory and inhibitory synapses and binding to D‐serine and GABA.
Diane Choi +3 more
wiley +1 more source
Editorial: Improving visual deficits with perceptual learning
Gianluca eCampana +3 more
doaj +1 more source
Living With the Fear of Recurrence in Benign Paroxysmal Positional Vertigo
ABSTRACT Background Benign paroxysmal positional vertigo (BPPV) is a common vestibular disorder characterized by brief vertigo episodes. It often leads to functional limitations, psychological distress, and fear of recurrence. Objective The purpose of this phenomenological study was to gain a deep understanding of the lived experiences of patients with
Seo‐Jin Lee, Yujin Hur
wiley +1 more source
Ischemic Stroke in a Talapoin Monkey (Miopithecus talapoin)
ABSTRACT A captive senile talapoin monkey (Miopithecus talapoin) developed sudden neurological signs and died within 24 h. Necropsy revealed an extensive infarct in the right hemisphere, from occipital to frontal lobe. Microscopy showed a thrombus, neuronal edema, and necrosis, and arteriosclerosis, characterizing an ischemic stroke.
Lucas dos Reis de Souza +10 more
wiley +1 more source

