Results 71 to 80 of about 234,277 (395)

Novel pathogenic mtDNA variants in Chinese children with neurological mitochondrial disorders

Annals of Clinical and Translational Neurology, Volume 12, Issue 3, Page 586-601, March 2025.
Abstract Objective Pathogenic variations in the mitochondrial genome are tightly linked to neurological mitochondrial disorders in children. However, the mutation spectrum of mitochondrial DNA (mtDNA) in the Chinese population remains incomplete. Therefore, the primary objective of our study was to comprehensively characterize pathogenic mtDNA variants
Zhimei Liu, Kexin Pan, Mingzhao Wang, Yijun Jin, Wenxin Yang, Keer Chen, Chaolong Xu, Xin Duan, Ying Zou, Changhong Ren, Lifang Dai, Suzhou Zhao, Ya Wang, Lijun Shen, Fang Fang, Hezhi Fang   +15 more
wiley   +1 more source

European Society for Swallowing Disorders – European Union Geriatric Medicine Society white paper: oropharyngeal dysphagia as a geriatric syndrome

Clinical Interventions in Aging, 2016
This position document has been developed by the Dysphagia Working Group, a committee of members from the European Society for Swallowing Disorders and the European Union Geriatric Medicine Society, and invited experts.
L. Baijens, P. Clavé, P. Cras, O. Ekberg, A. Forster, G. Kolb, J. Leners, S. Masiero, J. Mateos-Nozal, O. Ortega, D. Smithard, R. Speyer, M. Walshe   +12 more
semanticscholar   +1 more source

Efficacy of Electrical Stimulation Intervention in Treating Adults with Dysphagia: A Systematic Review [PDF]

, 2019
Purpose: Dysphagia is a term used for a swallowing disorder resulting from problems with the oral cavity, pharynx, esophagus, or gastroesophageal junction.
Cheng, Virginia N, Dalton, Jenna N, Howrigan, Kathryn R   +2 more
core   +1 more source

The Swallowing Characteristics of Thickeners, Jellies and Yoghurt Observed Using an In Vitro Model [PDF]

, 2019
© The Author(s) 2019 Open Access. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in ...
Cook, Michael T., Hamdy, Shaheen, Liu, Fang, McAuley, William, Patel, Simmi, Sun, Yi   +5 more
core   +2 more sources

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Risk factors and long‐term postoperative outcomes in patients with postoperative dysphagia after esophagectomy for esophageal cancer

Annals of Gastroenterological Surgery, 2022
Aim Dysphagia is one of the most common complications after esophagectomy. However, no study has investigated the long‐term postoperative outcomes in patients with postoperative dysphagia.
Takahito Sugase, Hiroshi Miyata, Keijiro Sugimura, Takashi Kanemura, Tomohira Takeoka, Masaaki Yamamoto, Naoki Shinno, Hisashi Hara, Takeshi Omori, Masahiko Yano   +9 more
doaj   +1 more source

The role of extensional rheology in the oral phase of swallowing: an in vitro study [PDF]

arXiv, 2020
Swallowing disorders deteriorate significantly the quality of life and can be lifethreatening. Texture modification using shear thinning food thickeners have proven effective in the management of dysphagia. Some studies have recently considered the positive role of cohesiveness, but there is still an insufficient understanding of the effect of the ...
arxiv  

Swallowing therapy for dysphagia in acute and subacute stroke.

Cochrane Database of Systematic Reviews, 2018
BACKGROUND Dysphagia (swallowing problems), which is common after stroke, is associated with increased risk of death or dependency, occurrence of pneumonia, poor quality of life, and longer hospital stay.
P. Bath, Han S. Lee, Lisa F Everton
semanticscholar   +1 more source

Creation of a 13-Item Bedside Dysphagia Screening Test [PDF]

, 2011
Dysphagia is a common problem that affects people with many health conditions and that can have serious complications. Various dysphagia screening tests exist; however, their creation was associated with certain weaknesses, e.g.
Ehler, Edvard, Mandysova, Petra, Černý, Michal, Škvrňáková, Jana   +3 more
core   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source