Results 41 to 50 of about 67,922 (183)

How Does Foot Arch Type Affect Gait Biomechanics in Patients with Plantar Fasciitis?

open access: yesBiomechanics
Plantar fasciitis (PFS) is a leading cause of heel pain, yet its clinical course varies widely. Although plantar fascia thickness (PFT) is often used as a pain marker, its prognostic value remains unclear.
Seongok Chae   +6 more
doaj   +1 more source

Assessment of Geriatric Foot using the Baropodometric P-walk Platform

open access: yesBulletin of the Transilvania University of Braşov: Series IX Sciences of Human Kinetics, 2023
The purpose of this study was to identify foot typology in senior individuals using barapodometry as an evaluation tool. 20 individuals, with a mean age of 74,35 years (15 female and 5 male), were enrolled in the study.
P.L. Haisan, D. Monea, V.T. Grosu
doaj  

Pressure characteristics in painful pes cavus feet resulting from Charcot–Marie–Tooth disease

open access: yes, 2008
Charcot–Marie–Tooth (CMT) disease often presents with peripheral muscle imbalance associated with a painful cavus (medial higharched) foot deformity which becomes increasingly severe and rigid as the disease progresses.
Joshua Burns   +5 more
core   +1 more source

Key Interventions in Friedreich's Ataxia and Their Impact on Patient Outcomes: A Systematic Review

open access: yesMovement Disorders, EarlyView.
Abstract Friedreich's ataxia (FA) is a rare neurodegenerative disease with multisystemic symptoms that requires multidisciplinary care. This systematic review summarizes available pharmacological and nonpharmacological interventions, their outcomes, and alignment with patient‐centered care domains, as well as their impact on these domains.
Dorota Sarwinska   +6 more
wiley   +1 more source

POLG1 Mutations and Charcot-Marie-Tooth Disease

open access: yesPediatric Neurology Briefs, 2008
A 35-year-old man first diagnosed with autosomal recessive Charcot-Marie-Tooth disease type 2 at 22 years of age had an abnormal gait and pes cavus at age 10 years.
J Gordon Millichap
doaj   +1 more source

Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1

open access: yesMuscle &Nerve, EarlyView.
ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno   +5 more
wiley   +1 more source

Presynaptic Congenital Myasthenic Syndromes

open access: yesMuscle &Nerve, EarlyView.
ABSTRACT Presynaptic congenital myasthenic syndromes (CMS) encompass a large number of rare neurologic disorders caused by impaired release of acetylcholine (ACh) from motor nerve terminals. There are two main groups of presynaptic CMS: one in which the amount of ACh in synaptic vesicles (SV) is diminished and another in which the mechanism of synaptic
Ricardo A. Maselli
wiley   +1 more source

A Case of Distal Hereditary Motor Neuronopathy‐7 With Two Novel VWA1 Variants in Compound Heterozygosity

open access: yesNeurology and Clinical Neuroscience, EarlyView.
ABSTRACT Distal hereditary motor neuronopathy‐7 (HMNR7) is an autosomal recessive VWA1‐related disorder characterized predominantly by distal motor involvement. A 41‐year‐old man with a history of childhood orthopedic surgery for foot deformities exhibited progressive distal weakness and muscle atrophy with lower limb predominance. Electrophysiological
Toshiyuki Kakumoto   +4 more
wiley   +1 more source

Morphology of the Hindfoot in Pes Cavus

open access: yesFoot & Ankle Orthopaedics, 2016
Category: Hindfoot Introduction/Purpose: The characteristic cavovarus deformity includes an adducted forefoot, an elevated longitudinal arch, and a hindfoot varus.
Timo Schmid MD   +3 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

Home - About - Disclaimer - Privacy