TNF-alpha plays an important role in trypanocidal mechanisms and is related to tissue injury. This cytokine has been detected the heart of human chagasic patients where it associated with damage. study investigated whether levels presence genetic polymorphisms are T. cruzi infection and/or development cardiac form chronic patients. Genomic DNA 300 subjects from endemic area was extracted analyzed by PCR using specific primers. assayed culture supernatants ELISA. An association observed...

Bronchial epithelial cells represent the first line of defense against microorganisms and allergens in airways play an important role chronic inflammatory processes such as asthma. In experimental model, both RvD1 AT-RvD1, lipid mediators inflammation resolution, ameliorated some most phenotypes Here, we extend these results demonstrate effect AT-RvD1 on bronchial (BEAS-2B) stimulated with IL-4. (100 nM) decreased CCL2 CXCL-8 production, part by decreasing STAT6 NF- κ B pathways....

RESUMO Objetivo: Identificar o conhecimento das puérperas sobre teste do pezinho. Métodos: Foram investigadas 75 que buscaram atendimento na atenção primária no período de outubro 2014 a fevereiro 2015. Um formulário foi aplicado pela pesquisadora principal e os dados resultantes foram analisados por estatística descritiva meio dos programas Microsoft Office Excel Statistical Package for Social Sciences (SPSS). Foi feito associação determinado poder estatístico. Resultados: Das puérperas, 47...

To assess the prevalence of Y-chromosome sequences and gonadoblastoma in patients with Turner syndrome (TS) using molecular techniques. A literature search was performed Pubmed, limiting period time to years 2005–2014 descriptors: TS Y (n=26), material (n=27). The inclusion criteria were: articles directly related subject published English or Portuguese. Articles which did not meet these review were excluded. After applying criteria, 14 papers left. main results regarding (1) about 60%...

Abstract We report on a 17‐year‐old patient with midline defects, ocular hypertelorism, neuropsychomotor development delay, neonatal macrosomy, and dental anomalies. DNA copy number investigations using Whole Genome TilePath array consisting, of 30K BAC/PAC clones showed 6.36 Mb deletion in the 9p24.1–p24.3 region 14.83 duplication 20p12.1–p13 region, which derived from maternal balanced t(9;20)(p24.1;p12.1) as shown by FISH studies. Monosomy 9p is well‐delineated chromosomal syndrome...

OBJETIVO: Identificar polimorfismos genéticos do fator de crescimento endotélio vascular (VEGF), posições +936C/T e -2578C/A, em mulheres com pré-eclâmpsia. MÉTODOS:Trata-se um estudo transversal,constituído por 80 distribuídas dois grupos: pré-eclâmpsia grupo controle. A caracterização da amostra foi realizada mediante entrevista pré-estruturadae complementada dados transcritos dos prontuários. Para identificação extração DNA, amplificação das sequências pela Reação Cadeia Polimerase (PCR)...

Exposure to certain chemical agents causes damage the genetic material.There is controversy about genotoxic and/or mutagenic effect caused by acute or chronic anesthetics exposure.The aim of this research was assess and compare frequency micronuclei (MN) in professionals working operating rooms other hospital areas.The cytotoxic effects were evaluated lymphocytes using micronucleus test proliferative index, respectively.We examined peripheral blood lymphocyte cultures from 30 room (exposed...

Down syndrome (DS) is the most common disease due to an autosomal aneuploidy in live born children and also major known genetic cause of mental retardation. The risk a DS pregnancy increases substantially with increasing maternal age. However, several women aged less than 35 years at conception have child DS. micronucleus (MN) assay can identify chromosome breakage or malsegregation ideal biomarker investigate genomic instability. aim present study was determine frequency peripheral...

Objective The study aim to investigate MTHFR C677T, A1298C, RFC1 A80G, MTR A2756G, CBS 844ins68, MTRR A66G polymorphisms in Down syndrome (DS) parents.Methods Polymorphisms were evaluated 35 mothers and 24 fathers of individuals with free trisomy chromosome 21 confirmed by karyotype. control group included 26 who had no children DS. molecular analysis was performed polymerase chain reaction restriction fragment length polymorphism (reaction polymorphism) or reaction. χ2 test (chi-square)...

To investigate the contribution of deletion polymorphism and insertion (rs1799752) angiotensin converting enzyme (ACE) gene in aetiology Polycystic Ovarian Syndrome (PCOS).97 women diagnosed with PCOS who received care at Gynaecology Obstetrics clinic Hospital das Clínicas UFTM, participated this study. The control group consisted 94 women. All participants were submitted to collection 10 mL whole blood genomic DNA was obtained by saline extraction method. genotyping samples performed means...

To identify the frequency of polymorphism in IL-10 gene, rs1800896 (-1082 A/G), women with preeclampsia (PE) and a control group to associate presence this protection against development PE.This was case-control study conducted on 54 PE, classified according criteria National High Blood Pressure Education Program, 172 at least two healthy pregnancies. The proposed studied by technique real time polymerase chain reaction (qPCR), hydrolysis probes. Statistical analysis performed using χ2 test....

A cross-sectional study was carried out in Agua Comprida, MG, Brazil, a region previously endemic to Chagas disease whose vectorial transmission interrupted around 20 year ago. total of 998 individuals were examined for anti-Trypanosoma cruzi antibodies. Seropositivity observed 255 subjects (25.5%), and 743 negative. Forty-one families with 5-80 similar environmental conditions selected familial analysis. In 15 families, seropositivity T. > 50% individuals. The segregation analysis confirmed...

Introduction: Preeclampsia is defined by the development of hypertension associated with proteinuria after 20 th week gestation in previously normotensive women.IL17A a potent inducer tissue inflammation and polymorphisms IL17A gene can modulate expression affect functioning Th17 cells, strengthening susceptibility to preeclampsia.Objective: To investigate rs4711998 A> G, rs8193036 C> T rs2275913 G women preeclampsia.Methods: This control case study, composed 263 women, 89 preeclampsia 174...

We describe a de novo dup 17p11 in boy with Alport syndrome, mild mental retardation, and minor anomalies. Combining classical molecular cytogenetics analyses, the karyotype was defined as 46,XY.ish (17)(p11.2p11.2)(D17S29++,D17S379+). syndrome is associated mutations type IV alpha chain collagen gene, however, no known collagen-related gene currently mapped to 17p11. Duplications involving 17p11.2 have been reported Charcot-Marie-Tooth disease, Dejerine-Sottas few sporadic patients...

Preeclampsia is responsible for considerable mortality and morbidity of mother sibling. The etiology preeclampsia still unknown. Family studies indicate the involvement genes located on chromosome 2 in development. Considering importance apoptosis 2, one promising candidate study genetic cause this syndrome CASPASE-8 gene, which was chosen as subject study.The aim to determine frequencies genotypes CASP8 gene polymorphisms (rs13416436 rs2037815) associate these with development Brazilian...

This study evaluated the association of polymorphisms VEGF (endothelial vascular growth factor) gene + 936C/T (rs3025039), 1154 G/A (rs 1570360) and −2578 C/A 699947) in patients with polycystic ovary syndrome (PCOS) to perform haplotypes formed by alleles Brazilian population. A total 110 women without PCOS 112 were included study. Genotyping analyses performed using PCR-RFLP assays 3025039 rs allelic discrimination real-time PCR technique 1570360). In univariate analysis, we observed a...

To investigate the association of genetic variants folate metabolism genes (MTHFR C677T; MTHFR A1298C; MTR A2756G; MTRR A66G and RFC-1 A80G) with development polycystic ovary syndrome (PCOS).This study included 203 women (99 PCOS 104 controls). The genotyping was performed by PCR-RFLP. Chi-squared test multiple logistic regression were used in statistical analysis. Haplotype analysis conducted using SNPstat program. results presented odds ratio (OR) confidence interval 95% (CI-95%), a...

SUMMARY BACKGROUND: This study aimed to investigate the deletion polymorphisms of genes glutathione S-transferase family GSTT1 and GSTM1 in patients with Polycystic Ovarian Syndrome (PCOS), comparing them a control population. METHODS: Blood was collected from 219 women (110 PCOS 109 controls) genomic DNA extracted. For analysis polymorphisms, technique used multiplex PCR. In statistical analysis, chi-square test multiple logistic regression were used. RESULTS: There is no association...

Objective To analyze the dysmorphological variability and to investigate presence of mutations in exon 1 TWIST gene using direct sequencing Brazilian families presenting with Saethre-Chotzen Syndrome (SCS). Methods Four 24 patients diagnosed as having features SCS were studied. Phenotypic characteristics all inventoried. The investigation protocol included anamnesis, examination, abdominal ultrasound, spine cranium x-ray, chromosomal analysis on GTG banding, screening for gene. Results...

ObjetivoDescrever o conhecimento dos profissionais de saúde sobre a triagem neonatal.MétodosTrata-se um estudo exploratório, descritivo, quantitativo realizado com 122 profissionaisde (57 enfermeiros, 57 técnicos enfermagem e 8 médicos) que trabalhavamnas Unidades Básicas Saúde Uberaba, Minas Gerais. Os participantes responderama questionário semiestruturado os dados foram analisados forma descritiva.ResultadosHouve predomínio do sexo feminino (93,5%) idade média 39 anos. Quanto àsdoenças...