Of all malignant neoplasias affecting women, breast cancer has the highest incidence rate in Brazil. The objective of the present study was to determine the frequency of genetic modifications in families with medium and high risk for breast and ovarian cancer from different regions of Brazil. An exploratory, descriptive study was carried out on the prevalence of the BRCA1 and BRCA2 mutations in case series of high-risk families for breast and/or ovarian cancer. After heredogram construction, a blood sample was taken and DNA extraction was performed in all index cases. The protein truncation test was used to screen for truncated mutations in exon 11 of the BRCA1 gene and in exons 10 and 11 of the BRCA2 gene. Of the 612 individuals submitted to genetic testing, 21 (3.4%), 19 women and 2 men, had mutations in the BRCA1 or BRCA2 genes. Of the 19 BRCA1 mutations found in the 18 participants, 7 consisted of ins6kb mutations, 4 were 5382insC, 3 were 2156delGinsCC, 2 were 185delAG, 1 was C1201G, 1 was C3522T, and 1 was 3450del4. With respect to the BRCA2 gene, 3 mutations were found: 5878del10, 5036delA and 4232insA (one case each). The prevalence of germline mutations in the BRCA1 and BRCA2 genes found in the present study was lower than reported by other studies on high-risk Brazilian populations. The inclusion of individuals with medium risk may have contributed to the lower prevalence observed.
There are some reports and case series addressing Coronavirus Disease 2019 (COVID-19) infections during pregnancy in upper income countries, but there are few data on pregnant women with comorbid conditions in low and middle income Countries. This study evaluated the proportion and the maternal and neonatal outcomes associated with SARS-CoV-2 infection among pregnant women with comorbidities. Participants were recruited consecutively in order of admission to a maternity for pregnant women with comorbidities. Sociodemographic, clinical, and laboratory data were prospectively collected during hospitalization. Pregnant women were screened at entry: nasopharyngeal swabs were tested by RT-PCR; serum samples were tested for IgG antibodies against spike protein by ELISA. From April to June 2020, 115 eligible women were included in the study. The proportion of SARS-CoV-2 infection was 28.7%. The rate of obesity was 60.9%, vascular hypertension 40.0%, and HIV 21.7%. The most common clinical presentations were ageusia (21.2%), anosmia (18.2%), and fever (18.2%). Prematurity was higher among mothers who had a SARS-CoV-2 infection based on RT-PCR. There were two cases of fetal demise. We found a high proportion of COVID-19 among pregnant women with comorbidities. This underscores the importance of antenatal care during the pandemic to implement universal SARS-CoV-2 screening, precautionary measures, and the rollout of vaccination programs for pregnant women.
although the CNB showed higher rates of sensitivity, specificity, positive predictive value, negative predictive value and accuracy than FNAB for palpable and non-palpable breast lumps, the method remains useful for the minimally invasive diagnosis of mammary lesions, especially when its results are analyzed together with the clinical and imaging examination.
Introdução: A Síndrome de Ehlers-Danlos (SED) é um distúrbio hereditário do tecido conjuntivo, e sua prevalência na gravidez é estimada em 1:150.000 gestantes. A doença em geral é caracterizada pela presença de hiperextensibilidade da pele, hipermobilidade articular, luxações, fragilidade do tecido, alterações cardíacas, ruptura arterial, como ruptura espontânea, dissecção, aneurisma dissecante e até mesmo alterações oftalmológicas, como ceratocone e descolamento de retina. Por ser uma condição rara, não há ampla literatura sobre a doença e o ciclo gravídico-puerperal. Objetivo: Descrever o caso de uma paciente com SED com intercorrências de dores articulares durante o pré-natal, porém com evoluções materna e neonatal favoráveis. Material e Métodos: D.S.R., feminina, 24 anos, G2P1A0, natural do Rio de Janeiro. Apresenta diagnóstico de SED há nove anos, com hipermobilidade articular e dor, porém sem acompanhamento regular com reumatologista. Iniciou seguimento de pré-natal em um serviço de alto risco, onde realizou seis consultas. As intercorrências na gestação se deram em função das várias crises de dor articular, que cessavam parcialmente com analgesia venosa. Sem intercorrências obstétricas durante o pré-natal e o parto. Paciente foi submetida à cesariana eletiva, com 38 semanas e 5 dias. Nascimento de recém-nascido (RN) do sexo feminino, pesando 3435 g, Apgar no 1 minuto 9 e no 5 minuto 9. Puerpério fisiológico, sem intercorrências. Resultados: A SED envolve alterações hereditárias em genes que afetam a síntese e o processamento de diferentes formas de colágeno, que são importantes na estrutura de muitos tecidos e órgãos, incluindo a pele, os tendões, os ligamentos, os vasos, o esqueleto e os olhos. A base genética para a maioria dos tipos de SED foi definida, exceto para o tipo hipermóvel (que é provavelmente geneticamente heterogênea), e o teste genético pode ser útil para diagnosticar vários desses distúrbios. A paciente descrita, embora não tenha o teste genético confirmatório, provavelmente possui a SED tipo III, pelas características de hipermobilidade articular, dor articular e luxações. A escolha pelo parto cesáreo foi por conta das crises de dor articular apresentadas pela paciente durante o pré-natal. Complicações obstétricas podem ocorrer, como ruptura prematura de membranas ovulares e prematuridade. A gravidez pode ser o primeiro evento com risco de complicações nessas mulheres, principalmente a rotura uterina, as rupturas intestinais e, com mais gravidade, as rupturas vasculares. Conclusão: As pacientes com SED devem ser encaminhadas para unidade de pré-natal de alto risco, preferencialmente em hospital terciário com suporte multidisciplinar em razão do risco potencial de complicações graves. O aconselhamento genético tem papel fundamental por permitir melhor caracterização do tipo de SED e orientação quanto aos riscos de perpetuação da doença na futura prole. É de grande valia a identificação do tipo de SED para manejo obstétrico seguro e adequado.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
334 Leonard St
Brooklyn, NY 11211
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.