Results 51 to 60 of about 102,865 (267)

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Evaluating the (comparative) safety profile of the novel oral polio vaccine type 2 using individual case safety reports in VigiBase

British Journal of Clinical Pharmacology, EarlyView.
Aim Novel oral polio vaccine type 2 (nOPV2) was used under the WHO emergency use listing for circulating vaccine‐derived polio virus (cVDPV) outbreaks from 2021 to 2023. We assessed nOPV2 adverse events following immunization (AEFIs) and compared its safety profile to other vaccines using VigiBase.
Comfort Kunak Ogar, Malede Mequanent Sisay, Leonardo Roque‐Pereira, Christine Leopold, Patrick C. Souverein, Aukje K. Mantel‐Teeuwisse, Marie L. De Bruin   +6 more
wiley   +1 more source

Swallowing development in infants and toddlers with spinal muscular atrophy following therapy compared to healthy controls: the prospective controlled DySMA trial

Orphanet Journal of Rare Diseases
Background Swallowing development is a crucial outcome measure for evaluating the effectiveness of disease-modifying therapies (DMT) in children with spinal muscular atrophy (SMA).
Jana Zang, Charlotte Dumitrascu, Julia Glinzer, Deike Weiss, Jonas Denecke, Christina Pflug, Almut C. Niessen, Paula Steffens, Jessika Johannsen   +8 more
doaj   +1 more source

Nonaneurysmatic Dysphagia Aortica in the Elderly: Three Case Reports and Literature Review

International Journal of Gerontology, 2016
Dysphagia is a remarkably prevalent disorder in the elderly. Both age-related changes in swallowing physiology and age-related diseases are predisposing factors for dysphagia in the elderly.
Yi-Hsueh Chan, Chien-Yuan Hung, Tze-Yu Shieh, Horng-Yuan Wang, Ching-Wei Chang, Shou-Chuan Shih, Ming-Jen Chen   +6 more
doaj   +1 more source

Evaluating a virtual paediatric adverse drug reaction clinic

British Journal of Clinical Pharmacology, EarlyView.
Aims Adverse drug reactions (ADRs) are a common problem in paediatric health care. There is limited access to expertise in the evaluation and management of potential ADRs in children, limiting access to these services and creating delays in assessment and management.
Emily Hauck, Blanca Del Pozzo‐Magana, Michael Rieder   +2 more
wiley   +1 more source

Present state and perceived future use of teledentistry in long-term care facilities in Japan: A cross-sectional study

Digital Health
Objectives Teledentistry could be effective in managing oral health through the provision of oral hygiene instruction and diagnostic services. This study aimed to assess the perception and usefulness of teledentistry in Japanese long-term care facilities.
Takuma Okumura, Kazuharu Nakagawa, Kanako Yoshimi, Mitsuko Saito, Kayoko Ito, Masataka Itoda, Kenji Takeuchi, Shinsuke Mizutani, Mitsuyoshi Yoshida, Yutaka Watanabe, Haruka Tohara   +10 more
doaj   +1 more source

Physiological analyses of swallowing changes due to chronic obstructive pulmonary disease in anesthetized male rats

Frontiers in Physiology
Chronic obstructive pulmonary disease (COPD) was previously known as chronic bronchitis and emphysema. It has various main symptoms, such as dyspnea, chronic cough, and sputum, and is often accompanied by dysphagia.
Kouta Nagoya, Kouta Nagoya, Takanori Tsujimura, Midori Yoshihara, Masahiro Watanabe, Jin Magara, Katsushige Kawasaki, Makoto Inoue   +7 more
doaj   +1 more source

Chiari I Malformation: Review and Update of Current Treatment Options

Clinical Anatomy, EarlyView.
ABSTRACT The pathophysiology of Chiari malformation type I (CM‐I) is complex, involving structural abnormalities at the craniovertebral junction that result in herniation of the cerebellar tonsils through the foramen magnum. In this study, we aim to present and evaluate current treatment options for CM‐I, with a focus on evidence‐based clinical ...
Jordan J. Lo, Shuhei Shiino, Stephen Z. Shapiro, Brianna L. Hines, Noritaka Komune, Carmine Antonio Donofrio, Filippo Badaloni, Antonio Fioravanti, Joseph Lockwood, C. J. Bui, Aaron S. Dumont, R. Shane Tubbs   +11 more
wiley   +1 more source

Caregivers’ Knowledge and Experiences in Recognizing and Managing Dysphagia in Patients with Myopathy

Clinics and Practice
Background: Dysphagia is a common complication in myopathy, significantly impacting patients’ quality of life (QoL) and overall health. Caregivers play a critical role in identifying and addressing swallowing difficulties in this population.
Maria Demetriou, Demetra Tziirkalli, Anastasios M. Georgiou   +2 more
doaj   +1 more source

A guide to neuromodulation in drug‐resistant epilepsy

Epileptic Disorders, EarlyView.
Abstract Neuromodulation is approved for the treatment of drug‐resistant epilepsy. It has been increasingly utilized over the past two decades with the approval of deep brain stimulation (DBS) and responsive neurostimulation (RNS) in addition to vagus nerve stimulation (VNS)—particularly in patients who are not deemed to be good resective surgical ...
Prachi Parikh, Irena Dolezawa, Manu Hegde, Lukas Imbach, Brian N. Lundstrom, Francesca Pizzo, Vikram R. Rao, Jaysingh Singh, Derek Southwell, Satsuke Watanabe, Birgit Frauscher   +10 more
wiley   +1 more source