Promise and Peril of a Genotype-First Approach to Mendelian Cardiovascular Disease.

Precision medicine, which among other aspects includes an individual's genomic data in diagnosis and management, has become the standard-of-care for Mendelian cardiovascular disease (CVD). However, early identification and management of asymptomatic patients with potentially lethal and manageable Mendelian CVD through screening, which is the promise of precision health, remains an unsolved challenge. The reduced costs of genomic sequencing have enabled the creation of biobanks containing in-depth genetic and health information, which have facilitated the understanding of genetic variation, penetrance, and expressivity, moving us closer to the genotype-first screening of asymptomatic individuals for Mendelian CVD. This approach could transform health care by diagnostic refinement and facilitating prevention or therapeutic interventions. Yet, potential benefits must be weighed against the potential risks, which include evolving variant pathogenicity assertion or identification of variants with low disease penetrance; costly, stressful, and inappropriate diagnostic evaluations; negative psychological impact; disqualification for employment or of competitive sports; and denial of insurance. Furthermore, the natural history of Mendelian CVD is often unpredictable, making identification of those who will benefit from preventive measures a priority. Currently, there is insufficient evidence that population-based genetic screening for Mendelian CVD can reduce adverse outcomes at a reasonable cost to an extent that outweighs the harms of true-positive and false-positive results. Besides technical, clinical, and financial burdens, ethical and legal aspects pose unprecedented challenges. This review highlights key developments in the field of genotype-first approaches to Mendelian CVD and summarizes challenges with potential solutions that can pave the way for implementing this approach for clinical care

Cause-specific mortality in a cohort of patients with diabetes mellitus:A population-based study in Sweden

A cohort of patients with diabetes mellitus hospitalised in Sweden from 1965 to 1983 was followed up until 1989, by linkages of population-based registers. Standardised mortality ratios (SMR), adjusted for confounding variables, and 95% confidence intervals (CIs) were calculated. After exclusion of the first year of follow-up (to reduce the effect of selection bias), the cohort consisted of 144,427 patients, of whom 92,248 patients died during follow-up. The SMR for all causes of death combined was 2.62 (95% CI 2.58- 2.67) among men and 3.23 (95% CI 3.18-3.28) among women. The excess mortality was still evident 20 years after first hospitalisation. but became less marked with longer follow-up time. Patients with presumably insulin-dependent diabetes mellitus (IDDM) had the highest SMRs (10.2: CI 9.5-11.0); however, there was a significant (34%) improvement over time in their mortality risk. We conclude that excess mortality persisted throughout all calendar periods and at all ages, indicating the need for health care prevention measures. (C) 2001 Elsevier Science Inc. All rights reserved

Consumo alimentar, estado nutricional e nível de atividade física em comunidade universitária brasileira

OBJETIVO: Este estudo teve como objetivo avaliar a variabilidade e a frequência do consumo alimentar, o estado nutricional e o nível de atividade física em uma comunidade universitária brasileira. MÉTODOS: A amostra constitui-se de 303 voluntários (130 homens e 173 mulheres) pertencentes à comunidade universitária do interior de São Paulo e avaliada por meio da disponibilização pela Internet do Questionário de Frequência Alimentar do International Physical Activity Questionaire e por meio da coleta da descrição autorreferida do peso e da altura. Foi realizada análise descritiva dos dados, análise de frequência alimentar e teste do coeficiente de correlação de Spearman. RESULTADOS: Foram observados inadequação dos hábitos alimentares, sobrepeso e obesidade na amostra estudada. As correlações entre os grupos alimentares apresentaram valores de magnitude maiores no grupo de mulheres que se alimentam de forma mais adequada do que os homens, mas não foram observadas diferenças entre os sexos no nível de atividade física. Não houve correlação significativa entre grupos de alimentos consumidos, índice de massa corporal e nível de atividade física em ambos os sexos. CONCLUSÃO: A comunidade universitária estudada apresentou baixo consumo de frutas, legumes e verduras, bem como consumo insuficiente de alimentos do grupo de cereais e leguminosas