Polymorphisms of folate metabolism genes in patients with cirrhosis and hepatocellular carcinoma.

AIM: To evaluated the association of the risk factors and polymorphisms in MTHFR C677T, MTHFR A1298C, MTR A2756G and MTRR A66G genes. METHODS: Patients with cirrhosis (n = 116), hepatocellular carcinoma (HCC) (n = 71) and controls (n = 356) were included. Polymerase chain reaction followed by enzymatic digestion and allelic discrimination technique real-time PCR techniques were used for analysis. MINITAB-14.0 and SNPstats were utilized for statistical analysis. RESULTS: Showed that age ≥ 46 years (OR = 10.31; 95%CI: 5.66-18.76; P < 0.001) and smoking (OR = 0.47; 95%CI: 0.28-0.78; P = 0.003) were associated with cirrhosis. Age ≥ 46 years (OR = 16.36; 95%CI: 6.68-40.05; P < 0.001) and alcohol habit (OR = 2.01; 95%CI: 1.03-3.89; P = 0.039) were associated with HCC. MTHFR A1298C in codominant model (OR = 3.37; 95%CI: 1.52-7.50; P = 0.014), recessive model (OR = 3.04; 95%CI: 1.43-6.47; P = 0.0051) and additive model (OR = 1.71; 95%CI: 1.16-2.52; P = 0.0072) was associated with HCC, as well as MTR A2756G in the additive model (OR = 1.68; 95%CI: 1.01-2.77; P = 0.047), and MTRR A66G in the codominant model (OR = 3.26; 95%CI: 1.54-6.87; P < 0.001), dominant model (OR = 2.55; 95%CI: 1.24-5.25; P = 0.007) and overdominant model (OR = 3.05; 95%CI: 1.66-5.62; P < 0.001). MTR A2756G in the additive model (OR = 1.54; 95%CI: 1.02-2.33; P = 0.042) and smokers who presented at least one polymorphic allele for MTRR A66G (OR = 1.71; 95%CI: 0.77-3.82; P = 0.0051) showed increased risk for cirrhosis. There was no association between clinical parameters and polymorphisms. CONCLUSION: Age ≥ 46 years, alcohol habit and MTR A2756G, MTHFR A1298C and MTRR A66G polymorphisms are associated with an increased risk of HCC development; age ≥ 46 years, tobacco habit and the MTR A2756G polymorphism are associated with cirrhosis.

ACE I/D Polymorphism in Brazilian Women with Endometriosis / Polimorfismo ACE I/D em Mulheres Brasileiras com Endometriose

Endometriosis is a chronic gynecological disease that displays some features similar to malignancy, such as local invasion, aggressive spread to distant organs and angiogenesis. Polymorphisms of the ACE gene have been linked with some vascular disease. To determine the frequency of the ACE I/D polymorphism in Brazilian patients with endometriosis compared to controls. This case-control study included a total of 134 women (49 endometriosis patients and 85 controls) who had undergone a laparoscopy or laparotomy. Molecular analysis was performed by polymerase chain reaction (PCR). For the statistical analysis, the chi-square and multiple logistic regression tests were used. The I/D ACE genotype frequencies in cases and controls were, respectively: II 16.3% and 16.5%; ID 24.5% and 20%; DD 59.2% and 63.5%. There was no statistically significant difference between cases and controls, either in the genotype frequencies (χ2 = 0.385; p = 0.825) or in the allele frequencies (χ2 = 0.098; p = 0.75) of the ACE I/D polymorphism. However, the genotype distribution was not consistent with the Hardy-Weinberg equilibrium, either in patients (χ2 = 7.84; p = 0.005) or in controls (χ2 = 20.09; p <0.0001). Multiple logistic regression analysis has not shown any differences amongst groups for the polymorphism studied [(OR 1.51; CI 95% 0.52- 4.41); p=0.4523]. Despite of the small sample size, the present study suggests that I/D ACE polymorphism is not related with endometriosis in brazilian patients.(AU)

A endometriose é uma doença ginecológica crônica que apresenta algumas características semelhantes à malignidade, tais como invasão local, disseminação para órgãos distantes e angiogênese. Polimorfismos no gene ACE têm sido relacionados com algumas doenças vasculares. Determinar a frequência do polimorfismo ACE I/D em pacientes brasileiros com endometriose em comparação aos controles. Estudo caso-controle que incluiu um total de 134 mulheres (49 pacientes com endometriose e 85 controles) que se submeteram a uma laparoscopia ou laparotomia. A análise molecular foi realizada por Reação em Cadeia da Polimerase (PCR). A análise estatística utilizou os testes de qui-quadrado e regressão logística. As frequências genotípicas ACE I/D em casos e controles foram, respectivamente: II 16,3% e 16,5%; ID 24,5% e 20%; DD 59,2% e 63,5%. Não houve diferença estatisticamente significativa entre os casos e controles, tanto nas frequências genotípicas (χ2 = 0,385; p = 0,825) ou nas frequências alélicas (χ2 = 0,098; p = 0,75) do polimorfismo ACE I/D. Entretanto, a distribuição genotípica não foi consistente com o equilíbrio de Hardy-Weinberg, tanto nos pacientes (χ2 = 7,84; p = 0,005) ou nos controles (χ2 = 20,09; p <0,0001). A análise de regressão logística não mostrou qualquer diferença entre os grupos para o polimorfismo estudado [(OR 1,51; CI 95% 0,52-4,41); p=0,4523]. Apesar do pequeno número de amostras, o presente estudo mostra que em pacientes brasileiras o polimorfismo ACE I/D não está relacionado com endometriose.(AU)

Clinical and epidemiological evaluation of patients with sporadic colorectal cancer / Avaliação clínica e epidemiológica de pacientes com câncer colorretal esporádico

Background: This study aims to perform a survey on clinical data, sociodemographic and risk factors from patients with sporadic colorectal cancer (SCRC) treated between 2004 and 2008 in the Coloproctology Service of a teaching hospital in the North-western region of São Paulo. Methods: We analyzed 749 medical records. Of these, 460 were from colon cancer patients and 289 from rectal cancer patients. Most of the individuals had white skin and were aged over 62 years. The variables that were analyzed included gender, age, skin color, professional occupation, alcohol drinking and cigarette smoking, family history of cancer, and comorbidities. The identification of the clinical-sociodemographic profile and risk factors in a population with the SCRC the northwest region of São Paulo was performed to collaborate with prevention strategies. Results: The occurrence of SCRC did not differ much between genders. The most prevalent professional occupations were those related to household chores, agricultural and commercial activities. Among the comorbidities, hypertension and cholelithiasis were the most representative. The most common diagnosis method and treatment for the majority of patients were coloscopy and surgery, respectively. On average, the time of the disease progression was eight months. The median number of lymph nodes excised ranged between 11 and 14. The most common metastasis was hepatic. Conclusion: The occurrence of colorectal cancer is more frequent in men's white skin with aged over 62 years. Professional occupation seems to be more important for those exposed to carcinogenic agents. This type of tumor mostly affects the distal regions of the colon and rectum with the occurrence of liver metastasis. The affected individuals usually have low survival due to its high aggressiveness. (AU)

Experiência: O presente estudo tem como objetivo realizar um levantamento de dados clínicos e fatores sociodemográficos e de risco de pacientes com câncer colorretal esporádico (CCRE) tratados entre 2004 e 2008 no Serviço de Coloproctologia de um hospital-escola na região Noroeste de São Paulo. Métodos: Foram analisados 749 prontuários clínicos. Destes, 460 foram de pacientes com câncer de cólon e de 289 de pacientes com câncer retal. A maioria dos indivíduos era da raça branca, com mais de 62 anos de idade. As variáveis analisadas foram gênero, idade, cor da pele, ocupação profissional, consumo de álcool e tabagismo, história familiar de câncer e co-morbidades. A identificação do perfil clínico-sociodemográfico e dos fatores de risco em uma população com CCRE na região noroeste de São Paulo foi realizada para colaborar com as estratégias de prevenção. Resultados: A ocorrência de CCRE não diferiu muito entre gêneros. As ocupacões profissionais mais prevalentes foram as relacionadas aos afazeres domésticos, atividades agrícolas e comerciais. Entre as comorbidades, hipertensão e colelitíase foram as mais representativas. O método de diagnóstico e de tratamento mais comum para a maioria dos pacientes foi colonoscopia e cirurgia, respectivamente. Em média, o tempo de progressão da doença foi de oito meses. O número mediano de linfonodos extirpados variou entre 11 e 14. A metástase mais comum foi a hepática. Conclusão: A ocorrência de câncer colorretal é mais frequente em homens de pele branca com idade superior a 62 anos. A ocupação profissional parece ser mais importante para as pessoas expostas a agentes cancerígenos. Este tipo de tumor afeta principalmente as regiões distais do cólon e do reto, com a ocorrência de metástases no fígado. Geralmente, os indivíduos afetados exibem baixa sobrevida, devido à alta agressividade dessa neoplasia. (AU)

Clinical and epidemiological characteristics of patients in the head and neck surgery department of a university hospital.

CONTEXT AND OBJECTIVES: Head and neck cancer is the fifth most common type of cancer worldwide. The objective of this study was to evaluate the clinical and epidemiological parameters in a head and neck surgery service. DESIGN AND SETTING: Cross-sectional study using patients' records, developed in otolaryngology and head and neck department of a university hospital in the northwest of the state of São Paulo. METHODS: A total of 995 patients in the head and neck surgery service between January 2000 and May 2010 were evaluated. The variables analyzed included: age, gender, skin color, tobacco and alcohol consumption, primary site, staging and histological tumor type, treatment and number of deaths. RESULTS: The disease was more frequent among men (79.70%), smokers (75.15%) and alcohol abusers (58.25%). The most representative sites were oral cavity (29.65%) and larynx (24.12%) for the primary site; squamous cell carcinoma (84.92%) was the most frequent histological type, and surgery (29.04%) and radiotherapy (14.19%) were the most common treatments. CONCLUSION: The cancer that affects patients assisted by the head and neck surgery service occurs mainly men, smokers and alcohol abusers, and the oral cavity and larynx are the sites with the highest incidence. The high rate of patients with stages III and IV indicates late diagnosis by the treatment centers, which reflects the need for prevention education campaigns for early diagnosis of the disease.

Association between 11 genetic polymorphisms in folate-metabolising genes and head and neck cancer risk.

Genetic polymorphisms in folate metabolism may affect the risk of head and neck cancer (HNSCC) due to its involvement in DNA methylation and synthesis. We conducted a case-control study (265 HNSCC cases and 466 non-cancer controls) to investigate associations of MTHFR C677T and A1298C, MTR A2756G, MTRR A66G, RFC1 A80G, MTHFD1 G1958A, CBS 844ins68, TC2 C776G and A67G, SHMT C1420T and BHMT G742A polymorphisms with HNSCC risk. Interactions between polymorphisms and survival time, tobacco and alcohol habits, age, gender and tumour staging (TNM classification) were evaluated by multiple logistic regression analysis. We found that age ≥ 49 years (P<0.001), male gender (P=0.03), tobacco habit (P<0.001), MTHFR 1298AC/CC (P=0.028), MTR 2756AG/GG (P=0.010) and RFC1 80AG/GG (P=0.015) genotypes were associated with an increased risk of HNSCC. There were interactions between lower survival and CBS 844ins68 (P=0.005); age ≥ 49 years and MTR 2756 AG/GG (P=0.004) and RFC1 80AG/GG (P=0.006) genotypes; male gender and MTHFR 1298 AC/CC (P=0.030), MTR 2756 AG/GG (P=0.006) and RFC1 80 AG/GG (P=0.009); tobacco non-habit and MTHFD1 1958GA/AA (P=0.040); tobacco and MTHFR 1298 AC/CC (P=0.054) and MTR 2756 AG/GG (P=0.010); alcohol non-consume and RFC1 80 AG/GG (P=0.008) with HNSCC increased risk. MTHFR C677CT/TT genotypes were less frequently in advanced tumours (P=0.04). In conclusion, our data provide evidence that folate metabolism genetic polymorphisms associated with variables as advanced age, male gender, tobacco and alcohol increase HNSCC development; CBS 844ins68 and MTHFR C677T polymorphisms are associated with less survival time and advanced stage tumours, respectively.

Clinical and epidemiological characteristics of patients in the head and neck surgery department of a university hospital / Características clínicas e epidemiológicas de pacientes do departamento de cirurgia de cabeça e pescoço em um hospital universitário

CONTEXT AND OBJECTIVES: Head and neck cancer is the fifth most common type of cancer worldwide. The objective of this study was to evaluate the clinical and epidemiological parameters in a head and neck surgery service. DESIGN AND SETTING: Cross-sectional study using patients' records, developed in otolaryngology and head and neck department of a university hospital in the northwest of the state of São Paulo. METHODS: A total of 995 patients in the head and neck surgery service between January 2000 and May 2010 were evaluated. The variables analyzed included: age, gender, skin color, tobacco and alcohol consumption, primary site, staging and histological tumor type, treatment and number of deaths. RESULTS: The disease was more frequent among men (79.70%), smokers (75.15%) and alcohol abusers (58.25%). The most representative sites were oral cavity (29.65%) and larynx (24.12%) for the primary site; squamous cell carcinoma (84.92%) was the most frequent histological type, and surgery (29.04%) and radiotherapy (14.19%) were the most common treatments. CONCLUSION: The cancer that affects patients assisted by the head and neck surgery service occurs mainly men, smokers and alcohol abusers, and the oral cavity and larynx are the sites with the highest incidence. The high rate of patients with stages III and IV indicates late diagnosis by the treatment centers, which reflects the need for prevention education campaigns for early diagnosis of the disease.

CONTEXTO E OBJETIVOS: O câncer de cabeça e pescoço é o quinto tipo mais comum entre todas as neoplasias no mundo. O objetivo do estudo foi avaliar os parâmetros clínicos e epidemiológicos em um serviço de cirurgia de cabeça e pescoço. TIPO DE ESTUDO E LOCAL: Estudo transversal com coleta de dados de prontuários, realizado no departamento de otorrinolaringologia e cabeça e pescoço de um hospital universitário do noroeste do estado de São Paulo. MÉTODOS: Um total de 995 pacientes do serviço de cirurgia de cabeça e pescoço foi avaliado entre janeiro de 2000 a maio de 2010. As variáveis analisadas foram: idade, gênero, cor da pele, consumo de álcool e tabaco, sítio primário, estádio e tipo histológico do tumor, tratamento e número de mortes. RESULTADOS: A doença foi mais frequente entre homens (79,70%), tabagistas (75,15%) e etilistas (58,25%). Os locais mais representativos foram: cavidade oral (29,65%) e laringe (24,12%) para sítio primário; carcinoma espinocelular (84,92%) foi o tipo histológico mais frequente e cirurgia (29,04%) e radioterapia (14,19%) foram os tratamentos mais comuns. CONCLUSÃO: O câncer que afeta os pacientes assistidos pelo serviço de cirurgia de cabeça e pescoço ocorre, em sua maioria, entre homens, tabagistas e etilistas, tendo a cavidade oral e a laringe maior incidência. A alta taxa de pacientes com estádios III e IV indica diagnóstico tardio pelos centros de tratamento, o que reflete a necessidade de campanhas de prevenção para o diagnóstico precoce da doença.