Navegando por Palavras-chave "Atm"

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    Avaliação do risco cardiovascular de pais de pacientes com ataxia telangiectasia
    (Universidade Federal de São Paulo (UNIFESP), 2016-11-28) Kotchetkoff, Elaine Cristina de Almeida [UNIFESP]; Sarni, Roseli Oselka Saccardo [UNIFESP]; http://lattes.cnpq.br/1760819469047929; http://lattes.cnpq.br/6291344918359532; Universidade Federal de São Paulo (UNIFESP)
    Introduction: Ataxia telangiectasia (A-T) is a rare neurodegenerative disease, which attends with immunodeficiency in several levels, with mitochondrial dysfunction and oxidative stress. As it is a recessive autosomal disease, patient?s parentes with A-T are carriers of its mutation. Researches suggest that A-T heterozygotes individuals presente higher risk to develop illness. Objective: Objective of the present study was to evaluate the carotid intima-media thickness (IMT) and lipid metabolism biomarkers associated to the cardiovascular in patient?s parentes and verify association to its gender. Methods: A cross-sectional and controlled study involving 29 A-T patients? parentes and 14 healthy controls, paired by gender and age. It was evaluated: lipid profile, apolipoproteins AI and B (Apo AI and Apo B), paraoxonase 1 (PON1), Interleukin 6 (IL-6), glycemia, C-reactive protein ultrasensitive (hs-CRP) and IMT through ultrasound. Results: The average of IMT measure in A-T patient?s parent´s group was 0.72 ± 0.01 mm (minimum: 0.5 mm and maximum: 1.0 mm). Noticed high percentage of amounts above 75 percentile compared to the population referential [16 (76.2%)], without any significant statistics diferences between feminine and masculine gender [11/15 (73.3%) vs 5/6 (83.3%); P = 0.550]. Comparison between the A-T patients? parents and controls, stratified by gender, showed that in the group of A-T patients?s parentes, women had higher HDL-c levels compared to men, and higher hs-CRP related to women control group. In the group of A-T patients? parents, stratified according to gender, correlation between HDL-c and hs-CRP was inversely proportional and stronger among women, with tendency to statistical significance. Conclusion: heterozygotes ATM did not differ from controls in relation to biomarkers studied associated with cardiovascular risk, however, most of them presented na increase in IMT, independente predictor of death and risk for myocardial infarction and stroke compared to the reference for the same age group. This finding suggests a cardiovascular risk in the heterozigous ATM and points to the need to monitor IMT and nutricional orientations and stimulate the practice of physical activity.