Results 61 to 70 of about 128 (125)

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

Movement 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, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

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

Movement 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, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Mapping Causal Biology: Mendelian Randomization in the Era of Big Data

Med Research, EarlyView.
Mendelian randomization (MR) leverages genetic variants to mitigate confounding biases in causal inference. This review systematically maps MR's methodological evolution, highlights its expanding applications in epidemiology and drug target validation, and outlines future directions for overcoming current biases through dynamic, multi‐omics, and cross ...
Xuanlu Shen, Chunrun Qu, Zeyu Wang, Jinglin Zhou, Hongwei Liu, Yingjie Li, Bowei Liu, Hao Zhang, Nan Zhang, Jingwei Zhang, Quan Cheng   +10 more
wiley   +1 more source

A Gap Analysis of Deep Brain Stimulation for Childhood‐Onset Movement Disorders

Movement Disorders, EarlyView.
Abstract Background Deep brain stimulation (DBS) is an established and increasingly utilized therapy for childhood‐onset movement disorders. However, pediatric DBS poses unique challenges that are not adequately addressed by adult‐derived paradigms. Objective To identify key gaps in the current use of DBS in childhood‐onset movement disorders and to ...
Daniela Munoz‐Chesta, Carolina Gorodetsky, Todd M. Herrington, Angela L. Hewitt, Daniel E. Lumsden, Jennifer O'Malley, Terence Sanger   +6 more
wiley   +1 more source

Urinary Incontinence and Risk of All‐Cause Mortality: A Systematic Review and Meta‐Analysis of Observational Studies

Neurourology and Urodynamics, EarlyView.
ABSTRACT Aims Urinary incontinence (UI) is a prevalent condition among adults and imposes a substantial societal burden, yet its association with all‐cause mortality remains uncertain. This study systematically reviewed and quantified the association between UI and mortality risk.
Yanyan Zhou, Liwei Wang, Weijia Sun, Zhong Wang, Kuiqing Shao, Feng Xu, Zhan Gao   +6 more
wiley   +1 more source

Global trends in epilepsy and the Chinese experience: Epidemiological transitions, underlying mechanisms, and integrated strategies (1990–2021)

Neuroprotection, EarlyView.
Epilepsy: Global Trends and the Chinese Experience (1990–2021). The infographic depicts (left) the global distribution of age‐standardized epilepsy DALY rates; (center) the triple inequality gap within China, including regional mortality disparities (9‐fold difference between western and eastern provinces), urban‐rural treatment gaps (60%–90%), and ...
Ting Chen, Mengqiao He, Sijia Basang, Hongyu Ren, Yutong Fu, Yu Li, Xin Shi, Lei Chen   +7 more
wiley   +1 more source

Independent Risk Factors for Postoperative Intestinal Obstruction and Clinical Outcomes in Simultaneous Pancreas‐Kidney Transplantation Recipients

Organ Medicine, EarlyView.
Intestinal obstruction (IO) is an important but underexplored complication following simultaneous pancreas‐kidney transplantation (SPKT) and is associated with considerable morbidity and both clinical and economic burdens. In this single‐center cohort study, perioperative parameters, including demographic characteristics, surgical variables, and ...
Rongxin Chen, Zebin Guo, Guanghui Li, Jiali Fang, Jialin Wu, Zhuangqiang Fang, Luhao Liu, Zheng Chen   +7 more
wiley   +1 more source

Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant, Carlos Robles, Seungwoo Lee, Prakesh S. Shah, Greg Ryan, Elka Miller, Shiri Shinar   +6 more
wiley   +1 more source

Unilateral Freezing of Gait in Normal Pressure Hydrocephalus after Stroke

Movement Disorders Clinical Practice, EarlyView.
Jose Portales, Matthew Feldman, Jason Margolesky   +2 more
wiley   +1 more source

The predictive nature of diagnostic nerve blocks for lower extremity spasticity management with botulinum toxin and neurotomy: A systematic review

PM&R, EarlyView.
Abstract Introduction/Objective Diagnostic nerve blocks (DNBs) involve the injection of anesthetic around peripheral nerves to temporarily reduce motor tone. Although they are used clinically to inform spasticity treatment with neurotomy and chemodenervation, there is little research exploring the predictive nature of DNBs.
Katherine Archibold, Jeremy Slayter, Emily M. Krauss, Alexander Whelan   +3 more
wiley   +1 more source