Search results for "Malin"
showing 10 items of 110 documents
Systematic ajmaline challenge in patients with long QT 3 syndrome caused by the most common mutation: a multicentre study
2016
Aims Overlap syndromes of long QT 3 syndrome (LQT3) and the Brugada syndrome (BrS) have been reported. Identification of patients with an overlapping phenotype is crucial before initiation of Class I antiarrhythmic drugs for LQT3. Aim of the present study was to elucidate the yield of ajmaline challenge in unmasking the Brugada phenotype in patients with LQT3 caused by the most common mutation, SCN5A-E1784K. Methods and results Consecutive families in tertiary referral centres diagnosed with LQT3 caused by SCN5A-E1784K were included in the study. Besides routine clinical work-up, ajmaline challenge was performed after informed consent. A total of 23 subjects (11 female, mean age 27 ± 14 yea…
Análisis pragmalingüístico de las formas nominales de tratamiento en la comunidad de habla LGTBI
2021
Hay palabras en el vocabulario de cualquier lengua que son consideradas ofensivas y que, en la comunicación general, suelen aparecer en actos de habla amenazantes. Estas voces, disfemismos que habitualmente son utilizados para ofender a los miembros de una determinada comunidad de habla, a veces son empleadas por sus destinatarios, los cuales se apropian de estos términos y reinterpretan su sentido. Es lo que sucede en la comunidad de habla LGTBI al apropiarse de aquellas palabras con carga negativa que han sido dirigidas hacia sus miembros por parte de sujetos ajenos al colectivo para insultarles y degradarles. En ese acto de apropiación, los insultos iniciales se convierten en formas nomi…
Aspectos pragmático-lingüísticos del discurso del turismo de aventura: estudio de un caso: estudio de un caso
2014
El objetivo de este trabajo es ofrecer una visión general del discurso turístico con respecto a sus principales características pragmático-lingüísticas y contrastarlo con un subsegmento turístico concreto. En este caso, nos aproximaremos al turismo de aventura, un tipo de turismo que está creciendo exponencialmente en los últimos años y que, por tanto, está ganando importancia en el sector turístico en España. Para ello, analizaremos un corpus de textos promocionales sobre este tipo de turismo a fin de ejemplificar dichas características e ilustrar a los traductores profesionales acerca de las posibles dificultades que puedan encontrar durante la traducción de este tipo de textos al español…
Analysis of visually guided eye movements in subjects after whiplash injury
2011
Abstract Objective The aims of present research were to analyze the visually guided eye movements of subjects suffering from the consequences of whiplash injury and the possibility to differentiate patients from feigning subject. We analyzed the role of video-nystagmography for clinical and forensic aspects. Methods It was a prospective case–control study. Detailed history was taken and patients were thoroughly investigated. Smooth pursuit and saccadic eye movements were assessed in 33 patients affected by imbalance following a whiplash injury. A control group of 20 subjects was also evaluated. All tests were executed in neutral neck position and after left and right trunk rotation. Results…
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.
2003
We present comparisons of the clinical pictures in a series of 60 patients with nemaline myopathy in whom mutations had been identified in the genes for nebulin or skeletal muscle alpha-actin. In the patients with nebulin mutations, the typical form of nemaline myopathy predominated, while severe, mild or intermediate forms were less frequent. Autosomal recessive inheritance had been verified or appeared likely in all nebulin cases. In the patients with actin mutations, the severe form of nemaline myopathy was the most common, but some had the mild or typical form, and a few showed other associated features such as intranuclear rods or actin accumulation. Most cases were sporadic, but in ad…
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy
1999
Muscle contraction results from the force generated between the thin filament protein actin and the thick filament protein myosin, which causes the thick and thin muscle filaments to slide past each other. There are skeletal muscle, cardiac muscle, smooth muscle and non-muscle isoforms of both actin and myosin. Inherited diseases in humans have been associated with defects in cardiac actin (dilated cardiomyopathy and hypertrophic cardiomyopathy), cardiac myosin (hypertrophic cardiomyopathy) and non-muscle myosin (deafness). Here we report that mutations in the human skeletal muscle alpha-actin gene (ACTA1) are associated with two different muscle diseases, 'congenital myopathy with excess o…
Nemaline myopathy and heart failure: role of ivabradine; a case report
2015
Background Nemaline myopathy (NM) is a rare congenital myopathy characterized by muscle weakness, hypotonia and the presence in muscle fibers of inclusions known as nemaline bodies and a wide spectrum of clinical phenotypes, ranging from severe forms with neonatal onset to asymptomatic forms. The adult-onset form is heterogeneous in terms of clinical presentation and disease progression. Cardiac involvement occurs in the minority of cases and little is known about medical management in this subgroup of NM patients. We report a rare case of heart failure (HF) in a patient with adult-onset NM in whom ivabradine proved to be able to dramatically improve the clinical picture. Case presentation …
Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation.
2010
We report a female newborn, diagnosed with fetal akinesia in utero, who died one hour after birth. Post-mortem muscle biopsy demonstrated actin-filament myopathy based on immunolabelling for sarcomeric actin, and large areas of filaments, without rod formation, ultrastructurally. Analysis of DNA extracted from the muscle disclosed a novel de novo heterozygous c.44G>A, GGC>GAC, 'p.Gly15Asp' mutation in the ACTA1 gene. Analysis of the location of the mutated amino-acid in the actin molecule suggests the mutation most likely causes abnormal nucleotide binding, and consequent pathological actin polymerization. This case emphasizes the association of fetal akinesia with actin-filament myopathy.