DHFR 19-bp deletion and SHMT C1420T polymorphisms and metabolite concentrations of the folate pathway in individuals with Down syndrome.

BACKGROUND: Down syndrome (DS) results from the presence and expression of three copies of the genes located on chromosome 21. Studies have shown that, in addition to overexpression of the Cystathionine ß-synthase (CBS) gene, polymorphisms in genes involved in folate/homocysteine (Hcy) metabolism may also influence the concentrations of metabolites of this pathway. AIM: Investigate the association between Dihydrofolate reductase (DHFR) 19-base pair (bp) deletion and Serine hydroxymethyltransferase (SHMT) C1420T polymorphisms and serum folate and plasma Hcy and methylmalonic acid (MMA) concentrations in 85 individuals with DS. METHODS: Molecular analysis of the DHFR 19-bp deletion and SHMT C1420T polymorphisms was performed by polymerase chain reaction (PCR) by difference in the size of fragments and real-time PCR allelic discrimination, respectively. Serum folate was quantified by chemiluminescence and plasma Hcy and MMA by liquid chromatography-tandem mass spectrometry. RESULTS: Individuals with DHFR DD/SHMT TT genotypes presented increased folate concentrations (p=0.004) and the DHFR II/SHMT TT genotypes were associated with increased MMA concentrations (p=0.008). In addition, the MMA concentrations were negatively associated with age (p=0.04). CONCLUSION: There is an association between DHFR DD/SHMT TT and DHFR II/SHMT TT combined genotypes and folate and MMA concentrations in individuals with DS.

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.

Polymorphism C1420T of Serine hydroxymethyltransferase gene on maternal risk for Down syndrome.

Recent researches have investigated the factors that determine the maternal risk for Down syndrome (DS) in young woman. In this context, some studies have demonstrated the association between polymorphisms in genes involved on folate metabolism and the maternal risk for DS. These polymorphisms may result in abnormal folate metabolism and methyl deficiency, which is associated with aberrant chromosome segregation leading to trisomy 21. In this study, we analyzed the influence of the polymorphism C1420T in Serine hydroxymethyltransferase (SHMT) gene on maternal risk for DS and on metabolites concentrations of the folate pathway (serum folate and plasma homocysteine and methylmalonic acid). The study group was composed by 105 mothers with DS children (case group) and 185 mothers who had no children with DS (control group). The genotype distribution did not show significant statistical difference between case and control mothers (P = 0.24) however a protective effect between genotypes CC (P = 0.0002) and CT (P < 0.0001) and maternal risk for DS was observed. Furthermore, the SHMT C1420T polymorphism (rs1979277) does not affect the concentration of metabolites of folate pathway in our DS mothers. In conclusion, our data showed a protective role for the genotypes SHMT CC and CT on maternal risk for DS. The concentrations of metabolites of folate pathway did not differ significantly between the genotypes SHMT.

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.