Results 171 to 180 of about 25,224 (259)

Alpha‐Mannosidosis in a 3.5‐Year‐Old Girl: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Alpha‐mannosidosis is a rare lysosomal storage disease caused by a deficiency of the enzyme alpha‐mannosidase. It manifests as a continuous spectrum of signs and symptoms characterized by dysmorphic features, skeletal abnormalities, delayed psychomotor and speech development, impaired hearing, and psychiatric involvement. When suspected, alpha‐
Samuel Bonilla Fornes, Maria Pilar Mendez Perez, Marta Torres Diaz, Maria Eugenia Sanchez Gutierrez, Enrique Galán Gómez   +4 more
wiley   +1 more source

Glymphatic dysfunction is associated with cognitive impairment in white matter hyperintensities: A DTI-based study. [PDF]

IBRO Neurosci Rep
Du B, Li W, Wang X, Ruan S, Sun W, Liu Y, Cao S, Zhang Y, Yang J, Ji GJ, Wu X, Hu P, Zhang J, Xi C, Wang K, Wei Q.   +15 more
europepmc   +1 more source

Regression, Ataxia, and Nystagmus in a Toddler: Unraveling a Rare Neurodegenerative Disorder

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Infantile neuroaxonal dystrophy (INAD) should be considered in any toddler presenting with psychomotor regression and cerebellar atrophy, even when basal ganglia iron deposition is absent on initial MRI. Molecular genetic testing of PLA2G6 is essential for definitive diagnosis, enabling accurate genetic counseling and timely multidisciplinary ...
K. Venkataramana Reddy, Agasthya Daggu, Sumanth Reddy Mudiyala, Siddartha Reddy Gangapuram, M. Geethika, Lakshya Nehal Samineni   +5 more
wiley   +1 more source

Prediction Model for Mild Cognitive Impairment in Older Chinese Patients With Cerebral Small Vessel Disease Based on XGBoost Algorithms and Shapley Additive Explanations

CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
An interpretable XGBoost‐SHAP model predicted MoCA‐defined cognitive impairment in older patients with cerebral small vessel disease and identified reduced IGF‐1 as the leading predictor. The model showed strong validation performance and clinical utility, supporting early risk stratification.
Peng Gao, Jingjing Su, Xiaoming Ma, Xinwei Ma, Yujia Chen, Jiahui Shen, Yijie Wu, Cheng Shi, Jingwei Li   +8 more
wiley   +1 more source

Glymphatic Dysfunction in Children With Type 2 and 3 Spinal Muscular Atrophy

CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
This study reveals glymphatic dysfunction in children with spinal muscular atrophy (SMA), characterized by increased cerebrospinal fluid volume and reduced ALPS index. These alterations correlate with clinical severity, identifying glymphatic dysfunction as a previously unrecognized feature of SMA pathophysiology.
Shasha Lan, Pei Xiang, Cui Yan, Huirong Nie, Huan Wang, Boyan Xu, Zhiyun Yang, Wen Tang, Yijuan Li, Yujian Liang, Yingqian Chen   +10 more
wiley   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, Volume 11, Issue 4, Page 1184-1199, August 2026.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Obstructive Sleep Apnea: Epidemiology, Pathophysiology, Complications, Diagnosis, Management, and Emerging Fibrosis‐Linked Remodeling

MedComm, Volume 7, Issue 8, August 2026.
Obstructive sleep apnea (OSA) is characterized by recurrent upper‐airway collapse, which generates key nocturnal stressors including intermittent hypoxia, sleep fragmentation, intrathoracic pressure stress, and sympathetic activation. These physiological disturbances converge on shared biological mechanisms, including oxidative stress, inflammation ...
Nhi Ho Thi Thuy, Thị Hằng Giang Phan, Ali Hussein Eid, Paola Maccioccu, Stefania Camboni, Gavino Casu, Anna Maria Posadino, Roberta Giordo, Gianfranco Pintus   +8 more
wiley   +1 more source