MYOC Gene Sequencing Analysis in Primary Open-Angle Glaucoma Patients from the Centre Region of Portugal

Primary open-angle glaucoma is the most frequent subtype of glaucoma. Relatives of primary open-angle glaucoma patients have an increased risk of developing the disease, suggesting a genetic predisposition to the disease. MYOC was the first primary open-angle glaucoma-causing gene identified. This study aimed to identify sequence variations in the MYOC gene that may be responsible for the phenotype in a group of primary open-angle glaucoma patients from the Centre Region of Portugal.Introdução: O glaucoma primário de ângulo-aberto é o subtipo mais frequente de glaucoma. Os familiares de doentes com glaucoma primário de ângulo-aberto têm um risco maior de desenvolverem a doença, o que sugere uma predisposição genética para a doença. MYOC foi o primeiro gene causador de glaucoma primário de ângulo-aberto a ser identificado. Este estudo pretendeu identificar variações de sequência no gene MYOC que possam ser responsáveis pelo fenótipo num grupo de doentes com glaucoma primário de ângulo-aberto da Região Centro de Portugal. Material e Métodos: Os três exões codificantes e as regiões adjacentes do gene MYOC foram estudados utilizando o método de PCR-sequenciação num grupo de 99 doentes com glaucoma primário de ângulo aberto. Resultados: A análise de sequenciação permitiu identificar 20 variantes, incluindo quatro na região promotora, sete nos intrões e nove nos exões um e três, das quais quatro eram variantes missense. Discussão: Inicialmente, todas as quatro variações de sequência missense identificadas foram consideradas candidatas a mutações causadoras de glaucoma. No entanto, após análise da literatura, somente a variante c.1334C>T (Ala445Val) permaneceu como provável responsável pelo glaucoma de pressão normal de início tardio. Conclusão: Este é o primeiro estudo realizado num grupo de doentes com glaucoma primário de ângulo aberto da Região Centro de Portugal, contribuindo para a identificação de uma variante genética no gene MYOC e reforçando a hipótese de que o glaucoma de pressão normal também poderá ser causado por mutações no gene MYOC

Efeitos da actividade física na imunossenescência

Trabalho final de mestrado integrado em Medicina área científica de Dermatologia, apresentado à Faculdade de Medicina da Universidade de CoimbraCom o processo de envelhecimento ocorrem alterações fisiopatológicas a diversos níveis no organismo. Denomina-se por imunossenescência, a gradual deterioração do sistema imune, que ocorre com o envelhecimento, e que se pode associar a diminuição da função imunitária ou da sua regulação. Este processo torna os idosos mais susceptíveis a infecções, doenças auto-imunes e neoplasias. Para fazer face aos efeitos da imunossenescência, a actividade física moderada apresenta-se como uma possível terapêutica. É necessário analisar as alterações induzidas pelas imunossenescência e documentar os efeitos da actividade física moderada nos vários componentes que integram o sistema imune de indivíduos idosos, a nível quantitativo e qualitativo. Com o envelhecimento assiste-se a um decréscimo dos vários elementos da imunidade inata e adquirida, com excepção: das células NK (com alterações ainda não esclarecidas), dos neutrófilos (com capacidade fagocitária aumentada) e da actividade inflamatória e do complemento (aumentadas). Verifica-se que a prática de actividade física, regular e moderada, na população geriátrica, atenua o declínio dos diversos parâmetros imunológicos, com excepção dos linfócitos B, que não apresentam alterações relevantes, e das células NK, cujos autores não são consensuais. A actividade física apresenta-se, portanto, como uma medida acessível e de baixo custo, para atingir um envelhecimento mais saudável e com qualidade de vida. Contudo, mais estudos são necessários, de forma a esclarecer determinadas questões que permanecem em aberto: mecanismos de actuação da actividade física sobre o sistema imunitário e que características são necessárias ao exercício e idoso, para os efeitos se exprimirem.With the aging process pathophysiological changes can occur at different levels in the body. Immunosenescence can be defined as the gradual deterioration of the immune system that occurs with aging and that can be associated with decreased immune function or its regulation. This process makes the elderly more susceptible to infections, autoimmune diseases and cancer. To address the effects of immunosenescence, moderate physical activity is presented as a possible therapy. It is necessary to analyze the changes induced by immunosenescence and document the effects of physical activity in the various components that make up the immune system of the elderly, both quantitatively and qualitatively. With aging, it can be observed a decrease in the various elements of the innate and acquired immunity, except for: NK (with amendments still unclear), neutrophils (phagocytic capacity increased) and the inflammatory activity and complement (increased). It appears that regular and moderate physical activity, in the geriatric population, attenuates the decline of several immunological parameters, with the exception of B lymphocytes, which do not show significant changes, and NK cells, whose authors are not consensual. Physical activity can be, therefore, seen as an affordable and low cost measure, to achieve a healthier aging and quality of life. However, more studies are needed in order to clarify certain issues that remain open: mechanisms of action of physical activity on the immune system and which features are necessary for the exercise and the elderly, for the purposes of expressing themselve

Age-Related Macular Degeneration Staging by Color Fundus Photography vs. Multimodal Imaging-Epidemiological Implications (The Coimbra Eye Study-Report 6)

Epidemiology of age-related macular degeneration (AMD) is based on staging systems relying on color fundus photography (CFP). We aim to compare AMD staging using CFP to multimodal imaging with optical coherence tomography (OCT), infra-red (IR), and fundus autofluorescence (FAF), in a large cohort from the Epidemiologic AMD Coimbra Eye Study. All imaging exams from the participants of this population-based study were classified by a central reading center. CFP images were graded according to the International Classification and Grading System for AMD and staged with Rotterdam classification. Afterward, CFP images were reviewed with OCT, IR, and FAF and stage update was performed if necessary. Early and late AMD prevalence was compared in a total of 1616 included subjects. In CFP-based grading, the prevalence was 14.11% for early AMD (n = 228) and 1.05% (n = 17) for late AMD, nine cases (0.56%) had neovascular AMD (nAMD) and eight (0.50%) geographic atrophy (GA). Using multimodal grading, the prevalence increased to 14.60% for early AMD (n = 236) and 1.61% (n = 26) for late AMD, with 14 cases (0.87%) of nAMD and 12 (0.74%) of GA. AMD staging was more accurate with the multimodal approach and this was especially relevant for late AMD. We propose that multimodal imaging should be adopted in the future to better estimate and compare epidemiological data in different populations

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