Results 51 to 60 of about 602,566 (241)

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Optic-nerve compression by the internal carotid artery as a cause of “unexplained: optic atrophy

Philippine Journal of Ophthalmology, 2004
Objective: To present a case of bilateral optic neuropathy secondary to optic-nerve compression by the internal carotid artery (ICA). Methods: Observational case report; single patient seen in private practice.
Richard C. Kho, MD
doaj  

Hereditary neuropathy with liability to pressure palsies: a case series report

Neurologijos seminarai, 2020
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited peripheral nerve disorder characterized by recurrent, episodic local reversible peripheral nerve compression neuropathy that occurs spontaneously or after
S. Naudžiūnaitė , R. Bunevičiūtė , B. Burnytė   +2 more
doaj   +1 more source

Tophaceous Gout Causing the Carpal Tunnel Syndrome and Flexor Digitorum Dysfunction: A Case Report

Архивъ внутренней медицины, 2021
Carpal tunnel syndrome is the most common peripheral compression neuropathy and can be caused by many diseases and conditions, including the formation of gouty tophi in various structures of the tunnel.
D. Y. Kulakov, V. V. Lyalina, E. A. Skripnichenko, S. G. Pripisnova, A. A. Maksimov, A. B. Shehter, I. G. Nikitin   +6 more
doaj   +1 more source

Mapping the distribution of Meissner corpuscles throughout the human hand: Sex‐ and age‐dependent variations

The Anatomical Record, EarlyView.
Abstract Meissner corpuscles are rapidly adapting mechanoreceptors involved in tactile discrimination in human glabrous hand skin. Detailed information on their regional distribution and variation across age, sex, and hand side remains limited. This study mapped Meissner corpuscles in 17 phalangeal and palmar regions from 46 individuals (27 male and 19
Irene Amigo, Yolanda García‐Mesa, Patricia Cuendias, Jorge Feito, Olivia García‐Suárez, Iván Suazo, Zulima Fernández, José A. Vega   +7 more
wiley   +1 more source

Síndrome do túnel do carpo: aspectos atuais Carpal tunnel syndrome: present approaches

Arquivos de Neuro-Psiquiatria, 1999
Baseado na experiência eletrofisiológica do autor em 668 pacientes e em dados de literatura, foi realizada revisão sobre síndrome do túnel do carpo (STC) analisando aspectos clínico-epidemiológicos e de conducão nervosa.
JOÃO ARIS KOUYOUMDJIAN
doaj   +1 more source

Glaucomatous Type Cupping Caused by Internal Carotid Artery Compression: a Case Report

Journal of Central Nervous System Disease, 2022
A 71-year-old woman with a diagnosis of normal tension glaucoma (NTG) presented with complains of progressive visual loss in the right eye. Examination revealed features consistent with compressive optic neuropathy.
Francesco Pellegrini MD, Alessandra Cuna MD, Giovanni Prosdocimo MD   +2 more
doaj   +1 more source

Cost‐effectiveness of DPYD genotyping prior to fluoropyrimidine‐based treatment for colorectal cancer in Wales

British Journal of Clinical Pharmacology, EarlyView.
Abstract Background Regulatory guidance in the United Kingdom advises DPYD genotyping prior to fluoropyrimidine‐based treatment. This economic evaluation estimated the costs and outcomes associated with DPYD screening prior to prescribing fluoropyrimidines for colorectal cancer in Wales and also considers additional variants to those included in ...
Catrin O. Plumpton, Sian M. Morgan, Richard A. Adams, Samantha Cox, Angharad A. Rudkin, Megan Fealey, Craig Barrington, Michelle D. Wood, Dyfrig A. Hughes   +8 more
wiley   +1 more source

Engineering programmable peptide hydrogels for chronic refractory wounds: A mechanism‐driven framework

BMEMat, EarlyView.
To break the self‐perpetuating pathology of chronic wounds, we propose a mechanism‐driven engineering framework for peptide‐based hydrogels. This review elucidates a hierarchical strategy—from molecular design to intelligent, multi‐functional systems—that enables these programmable biomaterials to dynamically intervene in key pathological loops and ...
Xiaoyu Lv, Xinyi Chao, Jiamin Zhang, Jianfeng Liu   +3 more
wiley   +1 more source