83 resultados para family history


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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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Avaliou-se o comprometimento funcional de pacientes com Charcot-Marie-Tooth provenientes da duplicação 17p11.2-p12 (CMT1A), utilizando o SF-36, que é um questionário para medir a qualidade de vida. Vinte e cinco pacientes de ambos os sexos com idades ≥10 anos e diagnóstico molecular de CMT1A foram selecionados. Idade, sexo, condições sociodemográficas e profissionais foram pareados com o Grupo Controle (sem histórico familiar de neuropatia). Os resultados mostraram que o maior impacto da CMT1A na qualidade de vida ocorreu nos domínios social e emocional dos pacientes avaliados. A capacidade funcional também tende a ser significativamente afetada, enquanto outros indicadores de deficiência física foram preservados. Por fim, os aspectos sociais e emocionais dos pacientes acometidos por CMT1A costumam ser negligenciados na assistência médica prestada aos pacientes brasileiros, e devem ser melhor compreendidos a fim de oferecer uma assistência global à saúde, resultando em adequada qualidade de vida.

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Pós-graduação em Ciências Sociais - FFC

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Objective: to investigate the prevalence and risk factors associated with wheezing in infants in the first year of life.Methods: this was a cross-sectional study, in which a validated questionnaire (Estudio Internacional de Sibilancias en Lactantes - International Study of Wheezing in Infants - EISL) was applied to parents of infants aged between 12 and 15 months treated in 26 of 85 primary health care units in the period between 2006 and 2007. The dependent variable, wheezing, was defined using the following standards: occasional (up to two episodes of wheezing) and recurrent (three or more episodes of wheezing). The independent variables were shown using frequency distribution to compare the groups. Measures of association were based on odds ratio (OR) with a confidence interval of 95% (95% CI), using bivariate analysis, followed by multivariate analysis (adjusted OR [aOR]).Results: a total of 1,029 (37.7%) infants had wheezing episodes in the first 12 months of life; of these, 16.2% had recurrent wheezing. Risk factors for wheezing were family history of asthma (OR = 2.12; 95% CI: 1.76-2.54) and six or more episodes of colds (OR = 2.38; 95% CI: 1.91-2.97) and pneumonia (OR = 3.02; 95% CI: 2.43-3.76). For recurrent wheezing, risk factors were: familial asthma (aOR = 1.73; 95% CI: 1.22-2.46); early onset wheezing (aOR = 1.83; 95% CI: 1.75-3.75); nocturnal symptoms (aOR = 2.56; 95% CI: 1.75-3.75), and more than six colds (aOR = 2.07; 95% CI 1.43-.00).Conclusion: the main risk factors associated with wheezing in Fortaleza were respiratory infections and family history of asthma. Knowing the risk factors for this disease should be a priority for public health, in order to develop control and treatment strategies. (C) 2013 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

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BACKGROUND: Acne vulgaris has an important genetic predisposition, as well as keratosis pilaris. Clinical observations suggest that patients with keratosis pilaris have less frequent or less severe acne breakouts; however, we found no studies on this regard OBJECTIVE: To determine if the presence of keratosis pilaris is associated with lower prevalence and severity of acne. METHODS: A cross-sectional study was conducted with dermatology outpatients aged between 14 and 35 years. We evaluated history and clinical grade of acne, demographic variables, history of atopy, smoking, and use of hormonal contraceptives. Two groups were defined by the presence or absence of moderate to severe keratosis pilaris on the arms and were compared by bivariate analysis and by conditional multiple logistic regression. RESULTS: We included 158 patients (66% women), with a median age of 23 +/- 11 years. Twenty-six percent of them had keratosis pilaris, which was associated with a history of atopy (odds ratio [OR]=2.80 [1.36 to 5.75]; p<0.01). Acne was present in 66% of subjects, and was related to family history of acne (OR=5.75 [2.47 to 13.37]; p<0.01). In bivariate and multivariate analysis, the group with keratosis pilaris had a less frequent history of acne (OR=0.32 [0.14 to 0.70]; p<0.01). CONCLUSION: The presence of moderate to severe keratosis pilaris on the arms was associated with lower prevalence of acne vulgaris and lower severity of facial lesions in adolescents and young adults.

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BACKGROUND: The workplace is affected by poor lifestyle habits that can cause alterations in the quality of life (QOL) of the employees. OBJECTIVE: To evaluate the quality of life and the cardiovascular risk factors in employees of a business. Relate the quality of life with the variables of cardiovascular risk, gender and work sector. METHOD: 41 employees were evaluated (30 females and 11 males) aging between 18 and 54 years (mean 27.4 ± 8.9 years). A protocol was used with: personal data, personal background, physical examination (anthropometry) and the WHOQOL-bref questionnaire to evaluate the QOL. Statistical analysis was completed by the Chi-squared test and Sperman’s rank correlation, with a significance of 5%. RESULTS: We found 31(75.6%) sedentary; 16(39.0%) excess weight; 2(4.9%) smokers; 9(22.0%) alcohol consumers and 25(61.0%) family history. We also found 13(31.7%) overweight/low risk and 3(7.3%) obese/moderate risk. The best score on the WHOQOL-bref was on physical health (72.9), and the worst on environment (61.3) and mean score of 69.5 for total QOL. Male employees presented greater scores on all domains, but this association had a non-significant result. There was positive correlation between the physical and psychological domains with the environment and total QOL. CONCLUSION: The employees presented important cardiovascular risk factors like sedentary lifestyle, family history, excess weight and alcohol consumption. The employee’s QOL is considered satisfactory in the perception of health; the best QOL being in the physical domain and the worst in the environment. Change measures are suggested to the company for the cardiovascular risk factors detected.

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Introduction: The Diabetic Nephropathy (DN) affects approximately 40% of patients diagnosed with DM is associated with increased mortality from cardiovascular phenomena and is considered the main cause of Chronic Renal Failure (CRF) in patients dialectics. Methods: Searches were performed on Medline, SciELO, Lilacs and Cochrane databases using the crossing between the key-words: “genetic polymorphism” and “diabetic nephropathy”. Results: The selected studies indicated that diabetic nephropathy is the leading cause of chronic renal failure, which significantly reduces the life expectancy of diabetics. Currently, some factors may have connection with DN. They are: genetic predisposition based on family history, hypertension, and cardiovascular events, quality of glycemic control and lipid levels and blood pressure and smoking. Conclusion: Studies constants are essential to add new elements in the literature for the definition (s) of factor (s) gene (s) specific (s) of diabetic nephropathy.

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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Germline mutations in TP53 gene are associated with Li-Fraumeni syndrome (LFS) and its variants Li-Fraumeni-like (LFL). They predispose carriers to a wide variety of early onset tumors. In Brazil, there is a high frequency of a germline mutation in this gene (NC_000017.9: c.1010G>A; p.R337H) in Southern and Southeastern regions, due to a founder effect. It is estimated to be present in 0,3% ofthe local population, but only few families have been detected. Due to this significant divergence, the purpose of this study was to verify the effectiveness of wider criteria for detection of these individuals. Herein, clinical criteria were established, DNA samples were collected, analyzed by Restriction Fragment Length Polymorphism (RFLP) and sequenced. Thus, assessing the prevalence of this mutation in families with multiple cases of cancer. Based on our proposed criteria, one out of 31 patients (3,22%) was found to carry p.R337H mutation. The patient developed ductal invasive breast cancer at age 47, invasive adenocarcinoma of the lung at age 48 and soft-tissue sarcoma at age 49. In addition, an extensive cancer family history was referred, atypical for LFS, including a case of Ewing’s sarcoma. These outcomes indicate that the proposed criteria may detect probable carriers who did not fit previous LFS criteria. Nevertheless, additional studies, which might include a larger number of families and more stringent parameters, will be useful to improve screening sensibility

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Micronuclei (MN) originate from chromosome fragments or whole chromosomes that lag behind at anaphase during cell division can occur due to excessive exposure to harmful agents, defects in mitosis and / or DNA repair process. The study evaluated the frequency of micronuclei in cytological samples after daily use of alcohol -based mouthwash mouth in smokers and non-smokers. We assessed 30 subjects, aged between 17-42 years and established as exclusion criteria: alcohol consumption; periodontal disease; systemic diseases that may interfere with the integrity of the oral mucosa; individuals with medical or pharmacological history that affect the performance of the study, family history of malignancies. For smokers the inclusion criterion was a minimum consumption of 20 cigarettes / day, and the contrast required for non-smokers. The sample was divided into 02 experimental groups: Group 1 Smokers and Group 2 Non-Smokers, both groups performed mouthwash (alcohol 21,6%) with Listerine® Defense of Teeth and Gums for 04 weeks cytological collection were performed on buccal mucosa and portion median border of the tongue, one for initial, week 0 control, and subsequent three weeks with continued use of mouthwash. The collected material was stained by specific staining Feulgen / Fast Green. The analysis of 3000 cells / individual was performed by light microscopy statistics used Kruskal- Wallis and Mann-Whitney tests for frequency MN. The frequency of micronuclei in buccal mucosa was 1.6 ± 1.75 and 1.46 ± 2.06 for the site language to Group 1 Smokers of showing a slight increase compared with Group 2 Non-smoking, which showed a variation of 1.2 ± 1.53 for the buccal mucosa site and 0.86 ± 1.41 for the site language. However, this difference was not statistically significant. The results suggest that alcohol-based mouthwash tested is not an inducer of genotoxic changes, thus not changing the frequency...

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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The literary subject of Jorge Andrade’s Rasto atrás and Labirinto, a drama and a novel, respectively, focuses on the author’s memory, the repository of a subjectivity that gathers the results of a tense relationship between the author and his father along their family history. This motif, transformed into an imaginary solution in both narratives, is studied here on literary grounds