Results 1 to 10 of about 5,698 (183)

Avaliação da função motora em crianças com distrofia muscular congênita com deficiência da merosina Motor function evaluation in merosin-deficient congenital muscular dystrophy children [PDF]

open access: yesArquivos de Neuro-Psiquiatria, 2005
A distrofia muscular congênita (DMC) compõe um grupo de miopatias caracterizadas por hipotonia e fraqueza muscular notadas até o primeiro ano de vida. Em torno de 40% a 50% dos casos são decorrentes de deficiência primária da proteína merosina (DM), os ...
Fernanda M. Rocco   +6 more
doaj   +4 more sources

A Novel Family with Demyelinating Charcot–Marie–Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature

open access: yesChildren, 2023
Introduction: Charcot–Marie–Tooth (CMT) is a group of inherited peripheral neuropathies characterized by wide genotypic and phenotypic variability. The onset is typically in childhood, and the most frequent clinical manifestations are predominantly ...
Margherita Baga   +5 more
doaj   +1 more source

Variation in mesoderm specification across Drosophilids is compensated by different rates of myoblast fusion during body wall musculature development. [PDF]

open access: yesPLoS ONE, 2011
BACKGROUND: It has been shown that species separated by relatively short evolutionary distances may have extreme variations in egg size and shape. Those variations are expected to modify the polarized morphogenetic gradients that pattern the dorso ...
Mirela Belu, Claudia M Mizutani
doaj   +1 more source

Anaesthesia and orphan disease: management of a case of Nicolaides-Baraitser syndrome undergoing cleft palate surgery

open access: yesBMC Anesthesiology, 2021
Background Nicolaides-Baraitser syndrome (NCBRS) is a rare disease caused by mutations in the SMRCA2 gene, which affects chromatin remodelling and leads to a wide range of symptoms including microcephaly, distinct facial features, recurrent seizures, and
Marie Goehring   +3 more
doaj   +1 more source

Application of fascia of the temporal muscle and cartilage of the auricular tragus in myringoplasty in children [PDF]

open access: yesSrpski Arhiv za Celokupno Lekarstvo, 2012
Introduction. Perforation of the tympanic membrane in children may be the cause of recurrent middle ear infection and loss of hearing. Objective. The aim of this study was to analyze the application of different reconstructive materials in surgical ...
Baljošević Ivan   +4 more
doaj   +1 more source

Management of anterior thigh injuries in soccer players: practical guide

open access: yesBMC Sports Science, Medicine and Rehabilitation, 2022
Most of the anterior thigh injuries are contusions or strains, however, some of these injuries can be career ending. Early diagnosis and correct treatment are key to successful outcome.
Lasse Lempainen   +12 more
doaj   +1 more source

Junctional sarcoplasmic reticulum motility in adult mouse ventricular myocytes. [PDF]

open access: yes, 2020
Excitation-contraction (EC) coupling is the coordinated process by which an action potential triggers cardiac myocyte contraction. EC coupling is initiated in dyads where the junctional sarcoplasmic reticulum (jSR) is in tight proximity to the sarcolemma
de la Mata, Ana   +5 more
core   +2 more sources

The Turtle Neck Sign: Identification of Severe Retracted Distal Biceps Tendon Rupture

open access: yesOrthopaedic Journal of Sports Medicine, 2022
Background: Chronic tendon retraction subsequent to distal biceps tendon rupture significantly increases repair difficulty and potential for tendon grafting.
Artit Boonrod MD   +5 more
doaj   +1 more source

Congenital muscular dystrophy: from muscle to brain. [PDF]

open access: yes, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G   +7 more
core   +1 more source

Analysis of musculoskeletal changes in patients with postural roundback

open access: yesColuna/Columna, 2014
OBJECTIVE: To analyze the clinical and radiographic changes in patients with postural rounded upper back. METHODS: 30 patients diagnosed with postural rounded upper back were studied, being 22 male and eight female, aged between 10 and 20 years ...
Débora Pinheiro Lédio Alves   +2 more
doaj   +1 more source

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