TP53 codon 72 polymorphism as a risk factor for cardiovascular disease in a Brazilian population

TP53, a tumor suppressor gene, has a critical role in cell cycle, apoptosis and cell senescence and participates in many crucial physiological and pathological processes. Identification of TP53 polymorphism in older people and age-related diseases may provide an understanding of its physiology and pathophysiological role as well as risk factors for complex diseases. TP53 codon 72 (TP53:72) polymorphism was investigated in 383 individuals aged 66 to 97 years in a cohort from a Brazilian Elderly Longitudinal Study. We investigated allele frequency, genotype distribution and allele association with morbidities such as cardiovascular disease, type II diabetes, obesity, neoplasia, low cognitive level (dementia), and depression. We also determined the association of this polymorphism with serum lipid fractions and urea, creatinine, albumin, fasting glucose, and glycated hemoglobin levels. DNA was isolated from blood cells, amplified by PCR using sense 5'-TTGCCGTCCCAAGCAATGGATGA-3' and antisense 5'-TCTGGGAAGGGACAGAAGATGAC-3' primers and digested with the BstUI enzyme. This polymorphism is within exon 4 at nucleotide residue 347. Descriptive statistics, logistic regression analysis and Student t-test using the multiple comparison test were used. Allele frequencies, R (Arg) = 0.69 and P (Pro) = 0.31, were similar to other populations. Genotype distributions were within Hardy-Weinberg equilibrium. This polymorphism did not show significant association with any age-related disease or serum variables. However, R allele carriers showed lower HDL levels and a higher frequency of cardiovascular disease than P allele subjects. These findings may help to elucidate the physiopathological role of TP53:72 polymorphism in Brazilian elderly people.

Frequency of Werner helicase 1367 polymorphism and age-related morbidity in an elderly Brazilian population

Werner syndrome (WS) is a premature aging disease caused by a mutation in the WRN gene. The gene was identified in 1996 and its product acts as a DNA helicase and exonuclease. Some specific WRN polymorphic variants were associated with increased risk for cardiovascular diseases. The identification of genetic polymorphisms as risk factors for complex diseases affecting older people can improve their prevention, diagnosis and prognosis. We investigated WRN codon 1367 polymorphism in 383 residents in a district of the city of São Paulo, who were enrolled in an Elderly Brazilian Longitudinal Study. Their mean age was 79.70 ± 5.32 years, ranging from 67 to 97. This population was composed of 262 females (68.4 percent) and 121 males (31.6 percent) of European (89.2 percent), Japanese (3.3 percent), Middle Eastern (1.81 percent), and mixed and/or other origins (5.7 percent). There are no studies concerning this polymorphism in Brazilian population. These subjects were evaluated clinically every two years. The major health problems and morbidities affecting this cohort were cardiovascular diseases (21.7 percent), hypertension (83.7 percent), diabetes (63.3 percent), obesity (41.23 percent), dementia (8.0 percent), depression (20.0 percent), and neoplasia (10.8 percent). Their prevalence is similar to some urban elderly Brazilian samples. DNA was isolated from blood cells, amplified by PCR and digested with PmaCI. Allele frequencies were 0.788 for the cysteine and 0.211 for the arginine. Genotype distributions were within that expected for the Hardy-Weinberg equilibrium. Female gender was associated with hypertension and obesity. Logistic regression analysis did not detect significant association between the polymorphism and morbidity. These findings confirm those from Europeans and differ from Japanese population.

Brazilian version of the Berg balance scale

The purpose of the present study was to translate and adapt the Berg balance scale, an instrument for functional balance assessment, to Brazilian-Portuguese and to determine the reliability of scores obtained with the Brazilian adaptation. Two persons proficient in English independently translated the original scale into Brazilian-Portuguese and a consensus version was generated. Two translators performed a back translation. Discrepancies were discussed and solved by a panel. Forty patients older than 65 years and 40 therapists were included in the cultural adaptation phase. If more than 15 percent of therapists or patients reported difficulty in understanding an item, that item was reformulated and reapplied. The final Brazilian version was then tested on 36 elderly patients (over age 65). The average age was 72 years. Reliability of the measure was assessed twice by one physical therapist (1-week interval between assessments) and once by one independent physical therapist. Descriptive analysis was used to characterize the patients. The intraclass correlation coefficient (ICC) and Pearson's correlation coefficient were computed to assess intra- and interobserver reliability. Six questions were modified during the translation stage and cultural adaptation phase. The ICC for intra- and interobserver reliability was 0.99 (P < 0.001) and 0.98 (P < 0.001), respectively. The Pearson correlation coefficient for intra- and interobserver reliability was 0.98 (P < 0.001) and 0.97 (P < 0.001), respectively. We conclude that the Brazilian version of the Berg balance scale is a reliable instrument to be used in balance assessment of elderly Brazilian patients.

Prevalencia de fatores ambientais associados a quedas em idosos residentes na comunidade em Sao Paulo, SP

O objetivo deste estudo foi determinar a prevalencia de fatores ambientais de risco para quedas em idosos que vivem na comunidade e sua associacao com idosos que nunca cairam e com os que caem recorrentemente. Foi realizado um estudo transversal com 87 idosos com idade superior a 65 anos morando na comunidade e participantes de um estudo coorte prospectivo. Uma avaliacao ambiental padronizada foi realizada nos domicilios de 53 idoso que cairam recorrentemente e de 34 idosos que nunca havia caido. Foi observada alta prevalencia de riscos ambientais nos domicilios dessa populacao: piso escorregadio (88,5 por cento), presenca de tapetes na sala (62 por cento),armarios inacessiveis na cozinha (87,4 por cento) e ausencia de iluminacao noturna (44,8 por cento). Nao houve domicilio livre de riscos, sendo a media encontrada de 22 riscos/domicilios de 47 avaliados. So houve associacao entre riscos ambientais e idoso que cairam recorrentemente para a presenca de interruptores de luz inacessivel em todos os comodos. Tapetes nos banheiros, presenca de escadas com riscos e a atitude de subir em um banco para alcancar objetos foram mais prevalentes entre os idosos que nunca cairam. Os domicilios apresentam muitos riscos ambientais. Nao foi encontrada associacao importante entre a presenca dos riscos e idoos que cairam. Idosos que nunca cairam parecem adotar com mais frequencia comportamentos de risco diante dos atributos ambientes

Estudo multicêntrico de idosos em ambulatórios de cardiologia e geriatria de instituiçöes brasileiras / Multicenter study of elderly patients in outpatient clinics of cardiology and geriatric brazilian institutions

OBJETIVO - Avaliar aspectos epidemiológicos, clínicos e terapêuticos de idosos com doenças cardiovasculares (DCV), no Brasil. MÉTODOS - Idosos com DCV, atendidos em 36 serviços de Cardiologia e Geriatria do Brasil, foram investigados através de questionário aplicado aos que tinham consulta marcada para o período analisado (um mês). RESULTADOS - Estudados 2196 idosos de 65 a 96 anos, sendo 60 'por cento' mulheres e analisados od fatores de risco: sedentarismo (74 'por cento'), pressão arterial (PA) elevada (53 'por cento'), LDL colesterol aumentado (33 'por cento'), colesterol total aumentado (30 'por cento'), obesidade (30 'por cento'), HDL -colesterol diminuído (15 'por cento'), diabetes (13 'por cerno') e tabagismo (6 'por cento'). Observou-se maior prevalência nas mulheres, com três ou mais fatores de risco. O principal motivo de consulta foi a PA elevada (48 'por cento'). Teste ergométrico e cinecoronariografia, foram mais solicitados para os homens. Os diagnósticos mais comuns foram hipertensão arterial sistêmica (HAS) (67 'por cento') e insuficiência coronária (iCo) (29 'por cento'). Os medicamentos mais utilizados foram diuréticos (42 'por cento'). CONCLUSÄO - Foi observada alta prevalência de fatores de risco (93 'por cento'), principalmente nas mulheres; sedentarismo, como fator de risco mais freqüente, aumentando de prevalência com a idade; HAS, como principal motivo de consulta e diagnóstico; menor investigação e diagnóstico de iCo em mulheres; diuréticos, como os fármaco mais freqüentemente prescritos; insuficiência cardíaca como principal doença associada a internação (31 'por cento') e atendimento de emergência (10 'por cento').