Association analysis of CFH and ARMS2 gene polymorphisms in a Brazilian cohort with age-related macular degeneration.

PURPOSE: To investigate the association between the CFH and ARMS2 gene polymorphisms and age-related macular degeneration (AMD) in a Brazilian cohort. METHODS: We examined 163 individuals with AMD and 154 controls recruited at the Department of Ophthalmology of the Universidade Federal de Minas Gerais, at the Instituto da Visão, and at the Centro Especializado em Olhos, in Brazil, between 2007 and 2012. Genotyping for CFH rs1061170 and ARMS2 rs10490924 single-nucleotide polymorphisms was performed. The odds ratios (OR) for all of the studied genotypes (heterozygous and homozygous) of both genes were calculated compared to homozygous ancestral alleles. RESULTS: Homozygosity for the CFH and ARMS2 at-risk allele was 33.3 and 23.6%, respectively, for AMD individuals and 10.3 and 7.1%, respectively, for controls (p < 0.0001). The OR was 7.2 (95% CI 3.6-14.5; p < 0.001) for the CFH at-risk genotype (CC) and 5.5 (95% CI 2.6-11.8; p < 0.0001) for ARMS2 (TT). Subjects homozygous for both polymorphisms had a much higher risk of developing AMD (n = 14 patients, OR 33.3, 95% CI 12.8-86.4). The proportion of ancestry in each group indicated that AMD patients had a higher European (Caucasian) component than controls. CONCLUSION: CFH and ARMS2 polymorphisms were strongly associated with AMD in this Brazilian cohort.

Homozygosity for the +674C>T polymorphism on VEGF gene is associated with age-related macular degeneration in a Brazilian cohort.

PURPOSE: To investigate the association between VEGF gene polymorphism and age-related macular degeneration (AMD) in a Brazilian cohort. METHODS: We examined 160 affected individuals and 140 sex- and age-matched controls recruited at the Vision Institute and the Retina Department, São Geraldo Hospital, Minas Gerais Federal University, Brazil, between 2007 and 2011. Genotyping for the VEGF rs1413711 single nucleotide polymorphism (SNP) (+674C>T) was performed. The incidence rate ratios and 95% confidence interval (CI) for AMD for this genotype was calculated. The odds ratio (OR) was also assessed by using logistic regression, controlling for CFH and LOC387715 risk genotype. RESULTS: We observed a prevalence of homozygosity (TT genotype) of 18.1% for rs1413711 among AMD cases compared with 5.8% among controls (P < 0.002). The ORs for this polymorphism were 3.6 (95%CI 1.6-8.2) for homozygous subjects and 1.5 (95%CI 1.1-2.1, P < 0.01) if the subject had at least one risk allele. When we studied separately exudative and dry AMD groups, this polymorphism was statistically significant for both groups. Controlling for CFH and LOC387715 risk genotype the OR was 3.0 for VEGF homozygous, and the OR increases if the patient is homozygous for the three genes. CONCLUSION: The present data suggests that VEGF TT genotype is associated with AMD among Brazilian patients.

Ressuscitação cardiopulmonar na gravidez / Cardiopulmonary resuscitation in pregnancy

A parada cardíaca durante a gravidez apresenta altos índices de mortalidade maternae fetal que variam conforme a etiologia. Felizmente, sua ocorrência é pouco comum,sendo o número de casos estimados de um para 30.000 gestações. Segundo estudosepidemiológicos em mortalidade materna, as maiores causas de morte devido a paradacardiorrespiratória (PCR) são: tromboembolismo venoso, síndromes hipertensivasda gravidez, sepse, embolismo pelo fluido amniótico, hemorragia, trauma, causasiatrogênicas e doenças cardíacas congênitas ou adquiridas. Independentemente dacausa, uma intervenção deve ser adotada precocemente para otimizar as chances desobrevivência da mãe e/ou do feto. Dentre essas intervenções, destacam-se o suportebásico e avançado de vida, a cesariana perimortem e a cesariana postmortem, queserão abordadas neste artigo.

Cardiac arrest during pregnancy has high rates of maternal and fetal mortality, whichvary according to the etiology. Fortunately, its occurrence is uncommon, and the estimatednumber of cases is 1 for each 30,000 pregnancies5. According to epidemiologicalstudies on maternal mortality, the major causes of death due to cardiopulmonary arrestare: venous thromboembolism, hypertensive disorders of pregnancy, sepsis, pulmonaryembolism by amniotic fluid, hemorrhage, trauma, iatrogenic causes and congenital or acquiredheart conditions. Whatever the cause is, intervention must be done early, in orderto maximize the chances of survival of the mother and/or fetus. Among these interventions,the basic and advanced life support, and the perimortem and postmortem cesareansection modalities will be discussed in this review.

Abdômen agudo secundário a hímen imperfurado: relato de caso / Acute abdomen secondary to imperforate hymen: a case report

O hímen imperfurado (HI) é a causa congênita mais comum de obstrução do fluxo genital no sexo feminino. Embora seja detectável em todas as faixas etárias pela inspeção da genitália externa, o HI é um diagnóstico que muitas vezes passa despercebido. Relatamos o caso de uma adolescente virgem, com desenvolvimento normal de caracteres sexuais secundários, ausência de menarca, que apresentou um quadro clínico de abdome agudo secundário à hematocolpo por hímen imperfurado.

Imperforate hymen is the most common congenital cause of genital flow obstruction in females. Although it is noticeable in all ages by the inspection of external genitalia, imperforate hymen is commonly misdiagnosed. We present a case in which a virgo intacta adolescent, with normal secondary sexual characters, without menarche, that evolved to acute abdomen and hematocolpus due to imperforate hymen.