ataxia/dental caries

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Hodgkin's disease and ataxia telangiectasia with pulmonary cavities.

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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

Epidermoid carcinoma of the oral cavity following diagnostic roentgenographic examination in a patient with ataxia-telangiectasia.

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Epidermoid carcinoma of the oral cavity following diagnostic roentgenographic examination in a patient with ataxia-telangiectasia.

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Heterogeneity of chromosomal breakage levels in epithelial tissue of ataxia-telangiectasia homozygotes and heterozygotes.

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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

Relation of left ventricular isovolumic relaxation time and incoordination to transmitral Doppler filling patterns.

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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)

Morphologic and functional characteristics of the heart in Friedreich's ataxia.

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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

Echocardiographic evaluation of verapamil in Friedreich's ataxia.

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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

Clofibrate, a PPAR-α agonist, abrogates sodium fluoride-induced neuroinflammation, oxidative stress, and motor incoordination via modulation of GFAP/Iba-1/anti-calbindin signaling pathways.

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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

A Patient-Specific Stem Cell Model to Investigate the Neurological Phenotype Observed in Ataxia-Telangiectasia.

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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

Ataxia Telangiectasia in Siblings: Oral Motor and Swallowing Characterization.

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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.

Poor fluorodeoxyglucose uptake in myocardial viability study in nondiabetic Friedreich's ataxia patient.

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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 in Friedreich's ataxia. An echocardiographic study.

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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,

[Migration of the distal catheter of ventriculo-peritoneal shunt into the thoracic cavity].

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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

[Intracranial actinomycosis in a child with dental caries].

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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

Ultra-structural hair alterations in Friedreich's ataxia: A scanning electron microscopic investigation.

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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

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