Results 61 to 70 of about 1,939 (189)

Genetic sequencing of children with malrotation and midgut volvulus: A cross‐sectional study

open access: yesJPGN Reports, EarlyView.
Abstract Objectives Intestinal malrotation with midgut volvulus can cause a particularly severe form of pediatric intestinal failure and is often a cause of ultra‐short bowel syndrome (SBS), with longer dependence on parenteral nutrition. While malrotation can be found in several genetic syndromes, most occurrences of this condition are not associated ...
Jonathan A. Salazar   +9 more
wiley   +1 more source

Deep Brain Stimulation of Caudal Zona Incerta for Parkinson's Disease: One‐Year Follow‐Up and Electric Field Simulations

open access: yesNeuromodulation: Technology at the Neural Interface, EarlyView., 2021
Abstract Objective To evaluate the effects of bilateral caudal zona incerta (cZi) deep brain stimulation (DBS) for Parkinson's disease (PD) one year after surgery and to create anatomical improvement maps based on patient‐specific simulation of the electric field.
Rasmus Stenmark Persson   +6 more
wiley   +1 more source

Dysarthria and quality of life in patients with amyotrophic lateral sclerosis

open access: yesRevista CEFAC
Purpose: to analyze the impact of dysarthria on the quality of life in patients with amyotrophic lateral sclerosis. Methods: the study consisted of 32 subjects, divided into two groups (control group and study group) who underwent an initial interview ...
Lavoisier Leite Neto   +1 more
doaj   +1 more source

Assessment of orofacial dysfunction in adults with neurogenic motor speech disorders by using orofacial profile test

open access: yesListy klinicke logopedie, 2019
Currently, there is no suitable test battery to accept severe motor speech disorders and related dysphagia disorders and low cognitive levels. The aim of the research was to create and use a new diagnostic tool - Orofacial profile to examine the ...
Lenka Dzidová
doaj   +1 more source

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer   +6 more
wiley   +1 more source

A neurocomputational view of the effects of Parkinson’s disease on speech production

open access: yesFrontiers in Human Neuroscience
The purpose of this article is to review the scientific literature concerning speech in Parkinson’s disease (PD) with reference to the DIVA/GODIVA neurocomputational modeling framework.
Jordan L. Manes   +12 more
doaj   +1 more source

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

Continuous Apomorphine Infusion in Multiple System Atrophy Real‐World Insights From a French Nationwide Retrospective Cohort

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Continuous subcutaneous apomorphine infusion (CSAI) is effective in Parkinson's disease but has not been evaluated in multiple system atrophy (MSA). Objective To assess the 6‐month efficacy and tolerability of CSAI in MSA patients. Methods French multicenter retrospective registry‐based analysis of CSAI use in MSA.
Simon Lamy   +16 more
wiley   +1 more source

Management of Dysarthria in Amyotrophic Lateral Sclerosis

open access: yesCells
Amyotrophic lateral sclerosis (ALS) stands as the leading neurodegenerative disorder affecting the motor system. One of the hallmarks of ALS, especially its bulbar form, is dysarthria, which significantly impairs the quality of life of ALS patients. This
Elena Pasqualucci   +8 more
doaj   +1 more source

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