Search results for " Contracture"
showing 10 items of 27 documents
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
2000
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of the elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and life-threatening cardiomyopathy with conduction blocks. We recently identified LMNA encoding two nuclear envelope proteins, lamins A and C, to be implicated in the autosomal dominant form of EDMD. Here, we report on the variability of the phenotype and spectrum of LMNA mutations in 53 autosomal dominant EDMD patients (36 members of 6 families and 17 sporadic cases). Twelve of the 53 patients showed cardiac involvement exclusively, although the remaining 41 all showed muscle weakness and contractures. We were able to identify …
Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications
2010
The Lubs X-linked mental retardation syndrome (MRXSL) is caused by small interstitial duplications at distal Xq28 including the MECP2 gene. Here we report on four novel male patients with MRXSL and different Xq28 duplications delineated by microarray-based chromosome analysis. All mothers were healthy carriers of the duplications. Consistent with an earlier report [Bauters et al. (2008); Genome Res 18: 847-858], the distal breakpoints of all four Xq28 duplications were located in regions containing low-copy repeats (LCRs; J, K, and L groups), which may facilitate chromosome breakage and reunion events. The proximal breakpoint regions did not contain known LCRs. Interestingly, we identified …
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene
2022
Abstract Background Arthrogryposis multiplex congenita (AMC) is a group of clinically and etiologically heterogeneous conditions, characterized by prenatal onset contractures affecting two or more joints. Its incidence is about 1 in 3000 live births. AMC may be distinguished into amyoplasia, distal and syndromic arthrogryposis. Distal arthrogryposis (DA) predominantly affects hands and feet. It is currently divided into more than ten subtypes (DA1, DA2A/B, DA3–10), based on clinical manifestations, gene mutations and inheritance pattern. Among them, only a few patients with DA5 have been reported. It is associated to a gain-of-function pathogenic variant of the PIEZO2 gene, encoding for an …
Multicentre evaluation of in vitro contracture testing with bolus administration of 4-chloro-m-cresol for diagnosis of malignant hyperthermia suscept…
2003
Background and objective The in vitro contracture test with halothane and caffeine is the gold standard for the diagnosis of susceptibility to malignant hyperthermia (MH). However, the sensitivity of the in vitro contracture test is between 97 and 99% and its specificity is 78-94% with the consequence that false-negative as well as false-positive test results are possible. 4-Chloro-m-cresol is potentially a more specific test drug for the in vitro contracture test than halothane or caffeine. This multicentre study was designed to investigate whether an in vitro contracture test with bolus administration of 4-chloro-m-cresol can improve the accuracy of the diagnosis of susceptibility to MH. …
Anti-adrenergic effects of ranolazine in isolated rat aorta
2014
Ranolazine, a piperazine derivative, is used as an anti- anginal drug to treat patients with chronic angina in clinical practice [1] and may improve coronary blood flow by reducing compression effects of ischemic contracture, and by improving endothelial function [2],[3]. In the present study we investigate the vascular effects of ranolazine on the endothelium, adrenergic system and Ca2+ in isolated rat aorta.
Dupuytren's contracture and phenobarbital: Our case reports and review of the literature
2009
Background: Dupuytren’s contracture is a fibroproliferative condition involving the superficial palmar fascia, leading to a progressive and irreversible flexion of the fingers. In literature, there are different opinions regarding the phenobarbital, a common antiepileptic drug, and its effective role in the genesis and development of Dupuytren’s disease. In our this retrospective study the association between phenobarbital and Dupuytren’s contracture is discussed. Case Reports: Three patients in treatment with phenobarbital who had no others significant risk factors for Dupuytren’s contracture were included in this study. The disease occurred after one to four years of drug therapy, at dosa…
Dupuytren contracture in diabetic hand
2011
Dupuytren's disease (DD) is a fibroproliferative disorder of unknown origin causing palmar nodules and flexion contracture of the digits. About 5% of individuals with DD are diabetic, with an increased prevalence that is proportional to the duration of the diabetes. The association with diabetes mellitus is well recorded, with a reported prevalence of between 3% and 32%. This review considers the evidence behind the association between DD and diabetes mellitus, considering the pathogenesis, clinical manifestations and therapies that can be found in the literature.
�ber die Wirkung von Calcium und Natrium auf die Kaliumkontraktur isolierter Meerschweinchenvorh�fe
1969
An isolierten linken Meerschweinchenvorhofen wurde der Einflus von Calcium und Natrium auf das Verhalten der Kaliumkontraktur und des Membranpotentials mit folgenden Ergebnissen untersucht: Die Ergebnisse zeigen, das sich die Kontraktur des Meerschweinchenvorhofs in ihrem Verlauf und ihrer Beeinflusbarkeit durch Calcium und Natrium nicht grundsatzlich von der des Froschherzens unterscheidet. Daraus wird geschlossen, das ihr in beiden Fallen der gleiche Mechanismus zugrunde liegt.
Skoliose und Hüftbeugekontraktur bei Duchennescher Muskel-dystrophie
2000
UNLABELLED Spinal deformity is common in muscular dystrophy and usually occurs after loss of walking ability. Unlike in idiopathic and other scoliosis forms, there seems to be no side preference of the convexity. Aim of the study was to analyse, if there is any relation between incidence and extent of walking ability, lower limb contractures and development of scoliosis. METHODS In a retrospective study, 45 patients with Duchenne muscular dystrophy who underwent surgery were analysed, concerning walking ability, contractures of lower extremities and scoliosis. RESULTS 1: No scoliosis was observed in ambulatory patients. 2: 96% of the wheelchair bound patients suffered from scoliosis. 3: 96%…
The “Jacobsen Flap” Technique: A Safe, Simple Surgical Procedure to Treat Dupuytren Disease of the Little Finger in Advanced Stage
2010
The "Jacobsen flap" technique: a safe, simple surgical procedure to treat Dupuytren disease of the little finger in advanced stage. Tripoli M, Cordova A, Moschella F. Source Chirurgia Plastica e Ricostruttiva, Dipartimento di Discipline Chirurgiche ed Oncologiche, Università degli Studi di Palermo, Italy. matripoli@yahoo.it Abstract The surgery for advanced stages of Dupuytren disease of the little finger is controversial. In the literature, several techniques have been described with variable reported results and postoperative complications. Percutaneous needle fasciotomy, McCash technique, and dermofasciectomy are often performed for surgical treatment but they present significant complic…