Objective: The study aim to investigate C677T, A1298C, A80G, A2756G, 844ins68, A66G polymorphisms in Down syndrome (DS) parents.
Methods: Polymorphisms were evaluated in 35 mothers and 24 fathers of individuals with free trisomy of chromosome 21 confirmed by karyotype. The control group included 26 mothers and 26 fathers who had no children with DS.
Objective: This study aimed to assess the knowledge of puerperal mothers about the Guthrie test.
Methods: A total of 75 mothers who sought primary care between October 2014 and February 2015 were investigated. The form was applied by the main researcher and the data was analyzed, using descriptive statistics with Microsoft Office Excel, and Statistical Package for Social Sciences (SPSS) programs.
Objectives: To investigate the presence of Y-chromosome sequences and determine their frequency in patients with Turner syndrome.
Methods: The study included 23 patients with Turner syndrome from Brazil, who gave written informed consent for participating in the study. Cytogenetic analyses were performed in peripheral blood lymphocytes, with 100 metaphases per patient.
Congenital adrenal hyperplasia, one of the most frequent autosome recessive disorders, is caused by defects in steroidogenic enzymes involved in the cortisol biosynthesis. Approximately 95% of the cases are caused by abnormal function of the 21-hydroxylase enzyme. This deficiency leads to androgen excess, consequently, to virilization and rapid somatic growth with accelerated skeletal maturation.
View Article and Find Full Text PDFObjective:: To assess the prevalence of Y-chromosome sequences and gonadoblastoma in patients with Turner syndrome (TS) using molecular techniques.
Data Source:: A literature search was performed in Pubmed, limiting the period of time to the years 2005–2014 and using the descriptors: TS and Y sequences (n=26), and TS and Y-chromosome material (n=27). The inclusion criteria were: articles directly related to the subject and published in English or Portuguese.
Introduction: Pre-eclampsia (PE) is a pregnancy-specific multisystemic syndrome characterized by high blood pressure and presence of protein in the urine. The pathogenesis of pre-eclampsia is poorly understood and many factors such as environment, genetic, and immunology may be involved in PE pathophysiology. Among the genetic factors, there is an association between pre-eclampsia and polymorphisms in some genes of different population samples, as vascular endothelial growth factor and interleukin 1 alpha.
View Article and Find Full Text PDFRev Bras Ginecol Obstet
October 2014
Purpose: To identify the frequency of polymorphism in the IL-10 gene, rs1800896 (-1082 A/G), in women with preeclampsia (PE) and in women in a control group and to associate the presence of this polymorphism with protection against the development of PE.
Methods: This was a case-control study conducted on 54 women with PE, classified according to the criteria of the National High Blood Pressure Education Program, and on 172 control women with at least two healthy pregnancies. The proposed polymorphism was studied by the technique of real time polymerase chain reaction (qPCR), with hydrolysis probes.
Purpose: To identify genetic polymorphisms of endothelial growth factor (VEGF), positions +936C/T and -2578C/A, in women with pre-eclampsia.
Methods: This was a cross-sectional study conducted on 80 women divided into two groups: pre-eclampsia and control. The sample was characterized using a pre-structured interview and data transcribed from the medical records.