Investigação de polimorfismo dos genes NFKB1, TYMS, UCP2 e SGSM3 em pacientes com hepatite C crônica em uma população da região norte do Brasil

The hepatitis C virus (HCV) affects about 130-150 million people worldwide. Sex, age, smoking, ethnicity, ancestry, and genetic polymorphisms may interfere with the progression of hepatitis C. We investigated the role of functional polymorphisms in genes NFKB1 (rs28362491), TYMS (rs16430), UCP2 and SGSM3 (rs56228771) with the unfavorable evolution of patients with chronic hepatitis C in a population in the northern region of Brazil. Epidemiological and clinical questionnaires were used to conduct a cross-sectional, observational and descriptive study to investigate polymorphisms. The relationship of these patients with the unfavorable evolution of 75 patients with chronic hepatitis C, in 2 groups (with and without cirrhosis), who underwent outpatient follow-up at two hospitals in Belém-PA, were identified. A panel of 48 Ancestral Information Markers (MIAs) was used as a method of genomic control in the study. It was revealed that the sex, age, smoking, alcoholism and polymorphisms of the TYMS and NFKB1 genes do not present statistical significance, respectively: p = 0.775; p = 0.070; p = 0.404; p = 0.498; p = 0.565 and p = 0.809. However, the polymorphisms of UCP2 and SGSM3 genes and African ancestry presented statistical significance. The 10% increase in African ancestry led to a reduction of 0.571 in the chance of developing cirrhosis of the liver, thus conferring a protective effect (P = 0.0417, OR = 0.429, CI = 95% = 0.170-0.898). The genotype of the polymorphism of the UCP2 gene was associated with a risk reduction (P = 0.05, OR = 0.0003, 95% CI = 0-1.90) and the genotype of the gene polymorphism SGSM3 was associated with significant risk (P = 0.024, OR = 7.106, 95% CI = 1,295-39,007) for developing cirrhosis of the liver. It is concluded that the African ancestry and the polymorphisms of the UCP2 and SGSM3 genes are related to the unfavorable evolution of patients with chronic hepatitis C.O vírus da hepatite C (VHC) afeta cerca de 130-150 milhões de pessoas no mundo. O sexo, a idade, o tabagismo, o etilismo, a ancestralidade e os polimorfismos genéticos podem interferir na evolução da hepatite C. Investigou-se o papel de polimorfismos funcionais nos genes NFKB1 (rs28362491), TYMS (rs16430), UCP2 e SGSM3 (rs56228771) com a evolução desfavorável de pacientes com hepatite C crônica em uma população da região norte do Brasil. Por meio de questionários epidemiológico e clínico, realizou-se um estudo transversal, observacional e descritivo para investigação de polimorfismos. Identificou-se a relação dos mesmos com a evolução desfavorável de 75 pacientes com hepatite C crônica, distribuídos em 2 grupos (com e sem cirrose), que realizam acompanhamento ambulatorial em 2 instituições hospitalares de Belém-PA. Foi utilizado um painel de 48 Marcadores Informativos de Ancestralidade (MIAs) como método de controle genômico no estudo. Revelou-se que o sexo, a idade, o tabagismo, o etilismo e os polimorfismos dos genes TYMS e NFKB1 não apresentam significância estatística sendo, respectivamente: p=0,775; p= 0,070; p= 0,404; p= 0,498; p= 0,565 e p=0,809. Contudo, os polimorfismos dos genes UCP2 e SGSM3 e a ancestralidade Africana apresentaram significâncias estatísticas. O incremento de 10% da ancestralidade Africana levou à redução de 0,571 de chance de desenvolver cirrose hepática, conferindo, portanto, um efeito de proteção (P=0,0417; OR = 0,429; IC = 95%=0,170-0,898). O genótipo del/del do polimorfismo do gene UCP2, foi associado com uma diminuição do risco (P=0,05; OR=0,0003; IC95%=0-1,90) e o genótipo del/del do polimorfismo do gene SGSM3 foi associado ao risco significativo (P=0,024; OR= 7,106; IC 95%= 1,295-39,007) de desenvolvimento de cirrose hepática. Conclui-se que a ancestralidade africana e aos polimorfismos dos genes UCP2 e SGSM3 estão relacionados à evolução desfavorável de pacientes com hepatite C crônica

O DIREITO AO CONHECIMENTO DA ORIGEM GENÉTICA EM FACE DA INSEMINAÇÃO ARTIFICIAL COM SÊMEN DE DOADOR ANÔNIMO

A paternidade biológica advinda da inseminação artificial heteróloga não deve ser confundida com a paternidade socioafetiva. Esta, construída através de laços de carinho, amor e atenção, prevalece sobre aquela. Ao tratar-se da geração de um filho através de procedimento efetuado com sêmen proveniente de um doador anônimo, deve-se saber que este não possui nenhuma relação, a não ser congênita, com o concebido. Portanto, o doador do sêmen não pode ser considerado “pai”, na atual conotação do termo, eximindo-se da obrigação de prestar alimentos ou até mesmo de conceder afeto ao indivíduo gerado a partir do seu material genético. No entanto, o concebido tem o direito de conhecer sua origem biológica paterna, mesmo a título de curiosidade, pois, de forma contrária, teria sua personalidade e autodeterminação atingidas, o que contrariaria princípio fundamental do Direito. Ademais, as probabilidades de relações incestuosas entre irmãos ou entre pai/doador e filha, da mesma forma, laboram para uma conclusão favorável à quebra do anonimato do indivíduo cedente do material genético masculino

Implementation of a Brazilian Cardioprotective Nutritional (BALANCE) Program for improvement on quality of diet and secondary prevention of cardiovascular events: A randomized, multicenter trial

Background: Appropriate dietary recommendations represent a key part of secondary prevention in cardiovascular disease (CVD). We evaluated the effectiveness of the implementation of a nutritional program on quality of diet, cardiovascular events, and death in patients with established CVD. Methods: In this open-label, multicenter trial conducted in 35 sites in Brazil, we randomly assigned (1:1) patients aged 45 years or older to receive either the BALANCE Program (experimental group) or conventional nutrition advice (control group). The BALANCE Program included a unique nutritional education strategy to implement recommendations from guidelines, adapted to the use of affordable and regional foods. Adherence to diet was evaluated by the modified Alternative Healthy Eating Index. The primary end point was a composite of all-cause mortality, cardiovascular death, cardiac arrest, myocardial infarction, stroke, myocardial revascularization, amputation, or hospitalization for unstable angina. Secondary end points included biochemical and anthropometric data, and blood pressure levels. Results: From March 5, 2013, to Abril 7, 2015, a total of 2534 eligible patients were randomly assigned to either the BALANCE Program group (n = 1,266) or the control group (n = 1,268) and were followed up for a median of 3.5 years. In total, 235 (9.3%) participants had been lost to follow-up. After 3 years of follow-up, mean modified Alternative Healthy Eating Index (scale 0-70) was only slightly higher in the BALANCE group versus the control group (26.2 ± 8.4 vs 24.7 ± 8.6, P <.01), mainly due to a 0.5-serving/d greater intake of fruits and of vegetables in the BALANCE group. Primary end point events occurred in 236 participants (18.8%) in the BALANCE group and in 207 participants (16.4%) in the control group (hazard ratio, 1.15; 95% CI 0.95-1.38; P =.15). Secondary end points did not differ between groups after follow-up. Conclusions: The BALANCE Program only slightly improved adherence to a healthy diet in patients with established CVD and had no significant effect on the incidence of cardiovascular events or death. © 2019 The Author

Diminishing benefits of urban living for children and adolescents’ growth and development

Optimal growth and development in childhood and adolescence is crucial for lifelong health and well-being1–6. Here we used data from 2,325 population-based studies, with measurements of height and weight from 71 million participants, to report the height and body-mass index (BMI) of children and adolescents aged 5–19 years on the basis of rural and urban place of residence in 200 countries and territories from 1990 to 2020. In 1990, children and adolescents residing in cities were taller than their rural counterparts in all but a few high-income countries. By 2020, the urban height advantage became smaller in most countries, and in many high-income western countries it reversed into a small urban-based disadvantage. The exception was for boys in most countries in sub-Saharan Africa and in some countries in Oceania, south Asia and the region of central Asia, Middle East and north Africa. In these countries, successive cohorts of boys from rural places either did not gain height or possibly became shorter, and hence fell further behind their urban peers. The difference between the age-standardized mean BMI of children in urban and rural areas was <1.1 kg m–2 in the vast majority of countries. Within this small range, BMI increased slightly more in cities than in rural areas, except in south Asia, sub-Saharan Africa and some countries in central and eastern Europe. Our results show that in much of the world, the growth and developmental advantages of living in cities have diminished in the twenty-first century, whereas in much of sub-Saharan Africa they have amplified