Double-edged sword of inflammasome genetics in colorectal cancer prognosis.

Inflammation is a colorectal cancer (CRC) hallmark. Inflammasome-dependent cytokines IL-1ß and IL-18 can play a beneficial or detrimental role in tumorigenesis depending on cancer type. Variants in inflammasome genes were associated with tumor development and/or outcome, and have been proposed as potential biomarkers for population screening.

IDENTIFICATION OF MUTATIONS IN THE PAH GENE IN PKU PATIENTS IN THE STATE OF MATO GROSSO.

Objective: To identify phenylalanine hydroxylase (PAH) mutations in patients with phenylketonuria (PKU) from the Newborn Screening Service in Mato Grosso, Midwest Brazil.

Methods: This is a cross-sectional descriptive study. The sample consisted of 19 PKU patients diagnosed by newborn screening.

Polymorphism rs7895833 in the SIRT1 gene and its association with dyslipidaemia in the elderly.

Objectives: Sirtuin 1 is a human protein involved in gene silencing and in inducing the deacetylation of proteins involved in the metabolic and adaptive response mechanisms. Polymorphisms in the SIRT1 gene have been studied with respect to aging. This study aims to determine the allelic and genotypic frequencies of the rs7895833 A/G polymorphism in the SIRT1 gene, and to identify the association between this polymorphism and the co-morbidities prevalent in the elderly population.

Prognostic significance of vascular endothelial growth factor polymorphisms in colorectal cancer patients.

Aim: To investigate the associations of the genetic polymorphisms of vascular endothelial growth factor A () -1498C>T and -634G>C, with the survival of patients with colorectal cancer (CRC).

Methods: A prospective cohort consisting of 131 Brazilians patients consecutively operated on with a curative intention as a result of sporadic colorectal carcinoma was studied. DNA was extracted from peripheral blood and its amplification and allelic discrimination for each genetic polymorphism was performed using the technique of polymerase chain reaction (PCR) in real-time.

Glutathione S-transferase M1 and T1 gene polymorphisms in Brazilian women with endometriosis.

Purpose: The glutathione family (GST) genes appear to play a role in the genesis of endometriosis. This case-control study aimed to compare the frequencies of GSTM1 and GSTT1 polymorphisms in women with endometriosis and women without endometriosis.

Methods: Polymerase chain reaction was performed to analyze the GSTM1 and GSTT1 genotypes among women with surgically and histologically confirmed endometriosis (case group n = 121) and in women without evidence of endometriosis confirmed by laparoscopy for investigation the infertility or for laparoscopic tubal sterilization (control group n = 97).

The Low Prevalence of Y Chromosomal Microdeletions is Observed in the Oligozoospermic Men in the Area of Mato Grosso State and Amazonian Region of Brazilian Patients.

Objective: To determine the prevalence of chromosomal abnormalities and microdeletions on Y chromosome in infertile patients with oligozoospermia or azoospermia in Mato Grosso state, Brazil.

Methods: This cross-sectional study enrolled 94 men from infertile couples. Karyotype analysis was performed by lymphocyte culture technique.

Association of APOE, GCPII and MMP9 polymorphisms with common diseases and lipid levels in an older adult/elderly cohort.

Background And Aims: The characterization of candidate gene polymorphisms in elderly populations is an important tool for the identification of risk factors for age-related diseases and conditions. We aimed to genotype the APOE polymorphisms (rs429358 and rs7412), rs61886492 (1561C>T) and rs202720 of GCPII gene and rs3918242 (-1562C>T) of MMP9 gene in an older-adult/elderly cohort from Cuiabá city, Mato Grosso Brazil as well as to characterize risk factors for morbidities and conditions affecting this cohort.

Methods: The studied population consisted of 570 subjects from Cuiabá city, Brazil, who were subjected to clinical interviews and blood collection for laboratory examinations and DNA extraction.

[Clinical and cytogenetic aspects of the Turner syndrome in the Brazilian Western region].

Purpose: to examine the association between cytogenetic characteristics and clinical and epidemiological changes in patients with Turner syndrome (TS).

Methods: Forty-two patients were included. Data were collected using a standardized questionnaire in interviews conducted with the responsible person and, when possible, with the patient.

PPARα polymorphisms as risk factors for dyslipidemia in a Brazilian population.

Background And Aims: Peroxisome proliferator-activated receptor α is a nuclear receptor involved in the regulation of several biochemical pathways. Polymorphisms within its gene have been associated with several metabolic traits. We aimed to investigate the association of L162V and Intron 7G>C polymorphisms with serum level markers and common morbidities affecting an older adult/elderly cohort from Cuiaba City, Mato Grosso State, Brazil, as well as to compare the results with a previously studied population from São Paulo City, Brazil.

Telomeres on chromosome 21 and aging in lymphocytes and gingival fibroblasts from individuals with Down syndrome.

Progressive chromosome 21 loss in individuals with trisomy 21 or Down syndrome (DS) is supposedly related to their premature senescence. In addition, the telomere hypothesis of cellular aging involving telomere shortening in normal and accelerated aging in vivo and in vitro is well documented. This study investigated the integrity of two chromosome 21 regions (the 21q telomere and the 21q22.