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Ataxia telangiectasia (AT) homozygotes have an increased risk for development of Hodgkin's disease (HD). Parenchymal lung involvement is not uncommon in HD; however, cavitary pulmonary lesions are quite unusual. We report on 3 cases of AT with HD who had mediastinal disease and parenchymal pulmonary
The objective of this study was to obtain an estimate of the frequency distribution of spontaneous chromosomal breakage occurring in vivo in oral epithelia of 20 ataxia-telangiectasia patients (A-T homozygotes) and 26 parents (A-T obligate heterozygotes). Samples of exfoliated cells were obtained
OBJECTIVE
To investigate factors during isovolumic relaxation that determine Doppler filling patterns in patients with left ventricular disease, and thus to identify the underlying mechanisms.
METHODS
85 patients (50 ischaemic heart disease, 35 left ventricular hypertrophy due to aortic stenosis)
The purpose of this study was to characterize the heart in patients with Friedreich's ataxia by two-dimensional echocardiography, systolic time intervals, and heart biopsy. Ten patients with Friedreich's ataxia (seven females and three males, age 15 +/- 7 years) were compared with 10 age-matched
Nine patients with hypertrophic cardiomyopathy associated with Friedreich's ataxia were treated with the calcium antagonist verapamil, which is known to reduce myocardial hypertrophy and improve diastolic function in patients with idiopathic hypertrophic cardiomyopathy. Daily oral doses of 7 mg/kg
Fluoride is an environmental contaminant that is ubiquitously present in air, water, and soil. It is commonly added in minute quantity to drinking water, toothpaste, and mouth rinses to prevent tooth decay. Epidemiological findings have demonstrated that exposure to fluoride induced
The molecular pathogenesis of ataxia-telangiectasia (A-T) is not yet fully understood, and a versatile cellular model is required for in vitro studies. The occurrence of continuous neurogenesis and easy access make the multipotent adult stem cells from the olfactory mucosa within the nasal cavity a
BACKGROUND The body of literature on oral motor and swallowing disorders in patients with ataxia telangiectasia (AT) is limited. CASE REPORT The purpose of this study was to characterize oral motor and swallowing disorders in two siblings with AT, based on oral motor and swallowing assessments.
A 48-year-old man, a known case of Friedreich's ataxia (FRDA) underwent cardiac fluorodeoxyglucose (FDG) positron emission tomography -computed tomography (PET/CT) for evaluation of myocardial viability. Tetrofosmin images showed an enlarged left ventricular cavity with small mid and basal inferior
Left ventricular function was assessed in seven patients with Friedreich's ataxia using computer-assisted analysis of the left ventricular echocardiograms and compared with those of 45 normal children matched for age and sex. The left ventricle in Friedreich's ataxia was symmetrically hypertrophied,
A 69-year-old woman suffered from ataxia of her right upper and lower limbs and infection in a distal tube of a ventriculo-peritoneal shunt (VPS). She had a thirty-year history of treatment for intracranial hemangioblastoma due to von Hippel-Lindau disease and hydrocephalus. Head magnetic resonance
A diagnosis of intracranial actinomycosis was made in a 9-year-old boy with headache, cranial nerve dysfunction and ataxia. Poor dental hygiene leading to caries and an inflammation in his right upper jaw probably was the cause of cervicofacial actinomycosis with intracranial extension. A full
Friedreich's ataxia (FRDA) is an autosomal recessive inherited disorder involving progressive damage to the central and peripheral nervous systems and cardiomyopathy. FRDA is caused by the silencing of the FXN gene and reduced levels of the encoded protein, frataxin. Frataxin is a mitochondrial