Head and neck cancer: genetic polymorphisms and folate metabolism.

Unlabelled: Epidemiological evidence suggests that genetic variants encoding enzymes involved in folate metabolism may modulate HNSCC risk by altering DNA methylation synthesis and genomic estability.

Aim: A review of the literature on genetic polymorphisms involved in folate metabolism and risk of head and neck cancer was carried out.

Methodology: An electronic search was made on the Medline database to select papers on head and neck cancer and polymorphisms involved in folate metabolism.

Unidentified bright objects in neurofibromatosis type 1: conventional MRI in the follow-up and correlation of microstructural lesions on diffusion tensor images.

Purpose: To evaluate the evolution of unidentified bright objects (UBOs) in individuals with neurofibromatosis type 1 (NF1) by serial magnetic resonance imaging (MRI), and to relate this to regional fractional anisotropy (FA).

Materials And Methods: The signal pattern of the T2-weighted sequences in the basal ganglia, thalamus, brain stem, and cerebellum for 27 NF1 individuals and a control group were analyzed by diffusion tensor imaging (DTI). The presence or absence of UBOs in 2 consecutive MRI examinations was related to FA.

Diffusion tensor MR imaging in neurofibromatosis type 1: expanding the knowledge of microstructural brain abnormalities.

Background: Neurofibromatosis type 1 (NF1) is a hereditary disease with a dominant autosomal pattern. In children and adolescents, it is frequently associated with the appearance of T2-weighted hyperintensities in the brain's white matter. MRI with diffusion tensor imaging (DTI) is used to detect white matter abnormalities by measuring fractional anisotropy (FA).

Head and neck carconogenesis: impact of MTHFD1 G1958A polymorphism.

Objective: To investigate the MTHFD1 G1958A polymorphism involved in the folate metabolism as a risk for head and neck cancer, and to find the association of the polymorphism with the risk factors and clinical and histopathological characteristics.

Methods: Retrospective study investigating MTHFD1 G1958A polymorphism in 694 subjects (240 patients in the Case Group and 454 in the Control Group) by Restriction Fragment Length Polymorphism (RFLP) Analysis. Multiple logistic regression and chi-square tests were used in the statistical analysis.

Polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene and risk of head and neck squamous cell carcinoma.

Unlabelled: Methylenetetrahydrofolate reductase gene (MTHFR) C677T polymorphism may be a risk factor for head and neck squamous cell carcinoma due to changes in folate levels that can induce disorders in the methylation pathway, which results in carcinogenesis.

Aim: To evaluate MTHFR C677T polymorphism in patients with head and neck squamous cell carcinoma and in individuals with no history of cancer, and to assess the association of this disease with clinical histopathological parameters. SERIES AND METHODS: A retrospective study that assessed gender, age, tobacco, alcohol consumption and clinical histopathological parameters in 200 patients (100 with disease and 100 with no history of cancer).

19-base pair deletion polymorphism of the dihydrofolate reductase (DHFR) gene: maternal risk of Down syndrome and folate metabolism.

Context And Objective: Polymorphisms in genes involved in folate metabolism may modulate the maternal risk of Down syndrome (DS). This study evaluated the influence of a 19-base pair (bp) deletion polymorphism in intron-1 of the dihydrofolate reductase (DHFR) gene on the maternal risk of DS, and investigated the association between this polymorphism and variations in the concentrations of serum folate and plasma homocysteine (Hcy) and plasma methylmalonic acid (MMA).

Design And Setting: Analytical cross-sectional study carried out at Faculdade de Medicina de São José do Rio Preto (Famerp).

The association between CBS 844ins68 polymorphism and head and neck squamous cell carcinoma risk - a case-control analysis.

Introduction: Susceptibility to head and neck squamous cell carcinoma may be modified by functional polymorphisms in genes involved in the folate pathway, such as cystathionine beta-synthase (CBS). The CBS 844ins68 polymorphism is associated with DNA methylation changes and cancer development.

Material And Methods: A case-control retrospective study was conducted in 322 patients with head and neck squamous cell carcinoma and in 531 control subjects without cancer.

GSTM1 and GSTT1 genes analysis in head and neck cancer patients.

Objective: To establish the clinical and demographic profile and identify risk factors among patients with head and neck cancer and relate them to the polymorphism of GSTT1 and GSTM1.

Methods: One hundred patients with head and neck cancer and 100 control group individuals without history of neoplasm were analyzed. .

A80G polymorphism of reduced folate carrier 1 (RFC1) gene and head and neck squamous cell carcinoma etiology in Brazilian population.

Reduced folate carrier is an essential folate transporter and the A80G polymorphism in reduced folate carrier 1 gene (rs1051266) has been shown to be associated with alterations in folate metabolism and consequently cancer development. We evaluated the association of this polymorphism with head and neck squamous cell carcinoma risk in a case-control study of 322 head and neck carcinoma patients and 531 individuals without cancer in a Brazilian population and association of this polymorphism with clinical histopathological parameters, and gender and lifestyle factors. The PCR-RFLP technique was used to genotype the polymorphism and multiple logistic regression was used for comparison between the groups and for interaction between the polymorphism and risk factors and clinical histopathological parameters.

Analysis of the TAX1BP1 gene in head and neck cancer patients.

Unlabelled: In Brazil, there were 14,160 new estimated cases of head and neck cancer for the year of 2008. Smoking and drinking are the main risk factors established in the etiology of this disease.

Aim: To assess the T --> A polymorphism in gene TAX1BP1 (leu306ile) in patients with head and neck cancer and a control population.

Clinical profile of children with Down syndrome treated in a genetics outpatient service in the southeast of Brazil.

Objective: Considering that studies about the frequencies of phenotypic features of Down syndrome (DS) in the Brazilian population with large ethnic variability are scarce in literature, this study analyzed clinical and demographic characteristics of DS children from the Southeastern region of Brazil.

Methods: Sixty-two DS children with free trisomy 21 were evaluated by physical examination using reference values that considered the children s gender and age at their presentation. Data about clinical complications were collected by retrospective analysis of the children's medical records and/or information supplied by their mothers.

[MTHFR genetic variability on coronary artery disease development].

Objective: Increased homocysteine (Hcy) concentration is considered a risk factor for coronary artery disease (CAD). Genetic alterations of the metylenetetrahydrofolate reductase (MTHFR) enzyme could reduce its thermolability and alter the Hcy metabolism, contributing to development of atherosclerotic lesions. Objective of this study was to investigate the relation between MTHFR C677T and A1298C polymorphisms and presence, extension, and severity of CAD.

Homocysteine and MTHFR and VEGF gene polymorphisms: impact on coronary artery disease.

Background: Polymorphisms in genes involved in the atherosclerosis development, angiogenesis, and homocysteine (Hcy) metabolism could be risk factors for coronary artery disease (CAD).

Objective: To evaluate the effect of the VEGF C-2578A and MTHFR C677T polymorphisms on CAD, and the association of these polymorphisms with the severity and extension of atherosclerotic lesions and Hcy concentrations.

Methods: Two hundred and forty-four subjects were evaluated by coronary angiography and included in the study (145 with CAD and 99 controls).

Genetic polymorphisms involved in folate metabolism and concentrations of methylmalonic acid and folate on plasma homocysteine and risk of coronary artery disease.

Objectives: Alterations in the enzymes involved in homocysteine (Hcy) metabolism or vitamin deficiency could play a role in coronary artery disease (CAD) development. This study investigated the influence of MTHFR and MTR gene polymorphisms, plasma folate and MMA on Hcy concentrations and CAD development. MMA and folate concentrations were also investigated according to the polymorphisms.

A80G polymorphism of reduced folate carrier 1 (RFC1) and C776G polymorphism of transcobalamin 2 (TC2) genes in Down's syndrome etiology.

Context And Objective: There is evidence that polymorphisms of genes involved in folate metabolism may be associated with higher risk that mothers may bear a Down's syndrome (DS) child. This study therefore had the objective of investigating the A80G polymorphism of the reduced folate carrier 1 (RFC1) gene and the C776G polymorphism of the transcobalamin 2 (TC2) gene as maternal risk factors for DS among Brazilian women.

Design And Setting: Analytical cross-sectional study with control group, at Faculdade de Medicina de São José do Rio Preto (Famerp).

Effectiveness of two programs of intermittent ferrous supplementation for treating iron-deficiency anemia in infants: randomized clinical trial.

Context And Objective: Low compliance among mothers regarding the treatment of anemic children using daily doses of ferrous sulfate administered at home has been reported. This study aimed to establish the effectiveness of weekly doses administered by mothers at home compared with weekly supplements administered directly by healthcare professionals, to reduce the prevalence of anemia.

Design And Setting: This was a randomized clinical trial at a public healthcare clinic in São José do Rio Preto, Brazil.

Comparing techniques for the identification of the MTHFR A1298C polymorphism.

The restriction fragment length polymorphism (RFLP) technique with the MboII enzyme is used by a number of researchers as a methodology for the identification of the genetic polymorphism MTHFR A1298C. However, the reliability of this enzyme for genotyping this polymorphism has been questioned, since the silent polymorphism T1317C, located close to the polymorphic region A1298C on gene MTHFR, also has a recognition site for MboII. Thus, the fragments formed by the digestion of MboII present similar sizes, making it difficult to differentiate the allele MTHFR 1298A in the presence of the allele MTHFR 1317C.

Vascular endothelial growth factor genetic variability and coronary artery disease in Brazilian population.

Atherosclerosis results from a complex interaction between environment and genetic risk factors. The gene encoding vascular endothelial growth factor (VEGF) is associated with differential protein expression and has been investigated in coronary artery disease (CAD) studies. Based on this, we aimed at determining if patients with CAD are affected by polymorphisms (-2 578, -1 154, and 936) in the VEGF gene, and also if these polymorphisms are associated with the number of diseased vessels and degree of arterial obstruction.

[Blood mesenchymal stem cell culture from the umbilical cord with and without Ficoll-Paque density gradient method].

Objectives: Implantation of cell separation and mesenchymal stem cell culture techniques from human umbilical cord blood with and without using the Ficoll-Paque gradient density method (d=1.077 g/ml).

Methods: Ten samples of the umbilical cord blood obtained from full-term deliveries were submitted to two different procedures of mesenchymal stem cell culture: a) Method without the Ficoll-Paque density gradient, which concentrates all nucleated cells; b) Method with the Ficoll-Paque density gradient, which selects only low-density mononuclear cells.

Meta-analysis and pooled analysis of GSTM1 and CYP1A1 polymorphisms and oral and pharyngeal cancers: a HuGE-GSEC review.

The association of GSTM1 and CYP1A1 polymorphisms and oral and pharyngeal cancers was assessed through a meta-analysis of published case-control studies and a pooled analysis of both published and unpublished case-control studies from the Genetic Susceptibility to Environmental Carcinogens database (http://www.upci.upmc.

GAPO syndrome: three new Brazilian cases, additional osseous manifestations, and review of the literature.

The GAPO syndrome is an extremely rare autosomal recessive disease that presents as main characteristics evident growth retardation, alopecia, pseudoanodontia, progressive optic atrophy and a typical face. Until now, only 30 patients have been reported in the medical literature (nine of them from Brazil, including the three cases described in the present article). This study describes three siblings with GAPO syndrome, two female and one male, the children of consanguineous parents (first-degree cousins, inbreeding F = 1/16), who are older than the previously described patients, presenting the characteristic phenotype besides serious bone alterations in the lower limbs, which had not yet been observed.

Epidemiologic evaluation of head and neck patients in a university hospital of Northwestern São Paulo State.

Unlabelled: Head and neck cancer accounts for nearly 200.000 new cases worldwide. A mean of 13.

Identification of dysregulated genes in lymphocytes from children with Down syndrome.

The molecular mechanisms by which trisomy of human chromosome 21 disrupts normal development are not well understood. Global transcriptome studies attempting to analyze the consequences of trisomy in Down syndrome (DS) tissues have reported conflicting results, which have led to the suggestion that the analysis of specific tissues or cell types may be more productive. In the present study, we set out to analyze global changes of gene expression in lymphocytes from children with trisomy 21 by means of the serial analysis of gene expression (SAGE) methodology.

Unidentified bright objects on brain MRI in children as a diagnostic criterion for neurofibromatosis type 1.

Background: Lesions of the brain denominated as unidentified bright objects (UBOs), which are not included in the diagnostic criteria for neurofibromatosis type 1 (NF1) established by the National Institutes of Health (NIH), have been detected by MRI.

Objective: The purpose of this study was to investigate the possibility of including the presence of UBOs as a diagnostic criterion for NF1 in children.

Materials And Methods: The study included 88 children between the ages of 2 and 18 years.

Methylenetetrahydrofolate reductase gene polymorphism and its association with coronary artery disease.

Context And Objective: Obstructive coronary artery disease (CAD) is characterized by the deposition of atherosclerotic plaque on the coronary artery wall. Its manifestations depend on interactions between environmental and genetic risk factors. The aim of this work was to analyze the frequency of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in patients with CAD and its association with plasma homocysteine levels.