There are current requirements of using genetic databases for offering a better genetic assistance to patients of some syndromes, especially those with X-linked heredity patterns (like Alport Syndrome) for the high probability of having descendants affected by the disease. We describe the first reported case of COL4A5 gene missense c.1499 G>T mutation in a 16-year-old girl confirmed to be affected by Alport Syndrome after genetic counseling. Next Generation Sequencing procedures let discover this mutation and offer an accurate clinical treatment to this patient. Current scientific understanding of genetic syndromes suggests the high importance of updated databases and the inclusion of Variant of Unknown Significance related to clinical cases. All of this updating could enable patients to have a better opportunity of diagnosis and having genetic and clinical counseling. This event is even more important in women planning to start a family to have correct genetic counseling regarding the risk posed to offspring, and allowing the decision to undergo prenatal testing.
Cardiovascular diseases are the main cause of mortality worldwide, and childhood excess weight/obesity are strong correlators of accumulated risk in later life. A relationship between maternal preeclampsia and offspring’s childhood obesity is recognized, but most studies fail to control for strong confounders. Our goal is to analyze the association between preeclampsia and childhood excess weight/obesity, after accounting for important confounders. We recruited 5133 women with singleton pregnancies during admission for delivery. Sixty-seven pregnancies were complicated by preeclampsia. Maternal and children outcomes were assessed at 10 years of age. We analyzed the association between preeclampsia and childhood excess weight/obesity by fitting a linear regression model (using offspring body mass index (BMI) z-score at 10 years of age) and a logistic regression model (using excess weight/obesity status). We then controlled both models for known confounders, namely maternal prepregnancy BMI, parity, and smoking during pregnancy. At 10 years of age, offspring of preeclamptic mothers had a higher BMI z-score and were more likely classified as overweight/obese, but these differences were not statistically significant. After controlling for maternal prepregnancy BMI, parity, and smoking during pregnancy, there was a high magnitude change in the beta coefficient of preeclampsia in the linear (0.175; −0.014) and the logistic regression models (1.48; 1.23) suggesting that the association between preeclampsia and childhood excess weigh/obesity is significantly confounded by these variables. These confounders also showed a significant association with childhood obesity. This finding suggests that in utero exposure to preeclampsia seems to have less impact in childhood obesity than the previously described confounders.
Acta Med Port 2015 Jul-Aug;28(4):517-524 RESUMOIntrodução: O papel do ácido acetilsalicílico (AAS ou aspirina) na prevenção das complicações associadas à pré-eclâmpsia tem sido objeto de estudos e de controvérsias ao longo de 30 anos. Os primeiros trabalhos de investigação acerca do papel da placenta na gé-nese da pré-eclâmpsia surgiram em finais dos anos 70 e assinalavam um aumento da atividade plaquetária e alteração da síntese das prostaglandinas, como consequência da deficiente adaptação da placenta. Ao longo dos últimos 20 anos do século XX, sucederam-se estudos de investigação acerca do papel profilático da aspirina na redução do risco de pré-eclâmpsia. Material e Métodos: Para analisar os trabalhos publicados sobre o uso da aspirina na prevenção da pré-eclâmpsia, bem como sobre a dose mais adequada e momento de administração, foram consultados apenas estudos prospetivos, revisões sistemáticas e meta-análises através das seguintes fontes pesquisa (PubMed, Cochrane, Embase). Os artigos citados foram considerados os mais relevantes. Os trabalhos foram divididos em dois grupos: no primeiro foram incluídos os trabalhos em que a aspirina era administrada até às 16 semanas e o segundo, com início de administração por um período mais alargado. Resultados e Discussão:No primeiro grupo, com menor número de casos, mas com início mais precoce de administração do fár-maco, até às 16 semanas, concluiu-se que a aspirina poderia ter um papel positivo na redução de risco de gravidade da pré-eclâmpsia; o segundo grupo, com maior número de casos nos estudos, mas com condições menos restritas de entrada e de tempo de início do fármaco, teve resultados mais controversos. As meta-análises destes estudos concluíram que os resultados favoráveis estavam associados às condições de e momento da administração. Conclusão: Não existindo ainda alternativas ou fármacos que lhe possam ser associados, a aspirina em baixas doses (80 a 150 mg/ dia) ao deitar, iniciada no 1º trimestre e até às 16 semanas mantém-se um fármaco seguro, que tem contribuído para redução do risco de pré-eclâmpsia precoce, com as consequências que lhe estão associadas. Palavras-chave: Aspirina; Pré-eclâmpsia/prevenção e controlo. ABSTRACT Introduction:The role of acetyl salicylic acid (ASA or aspirin) in preeclampsia prevention and in other complications has been subject to studies and controversies for the last 30 years. The first research results concerning the role of placenta in preeclampsia have been published by the end of seventies and they showed an increase in the platelet activity and a prostaglandin synthesis disturbance, as a consequence of a deficient placentation. In the last twenty years of the XX century important studies were published on the aspirin prophylactic role in preeclampsia risk reduction. Material and Methods:To analyze published studies about Aspirin use for preeclampsia prevention and about the more adequate dosage to be administered, Medline was used for searching the most relevant prospective research papers on this subject in order ...
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