RESUMO
Incidence of the esophagus adenocarcinoma has been dramatically increasing in Western countries since the last decade. Gastroesophageal reflux disease and Barrett's esophagus are risk factors for adenocarcinoma. Methylenetetrahydrofolate reductase (MTHFR) genes play a key role not only in folate metabolism but also in esophagus, stomach, pancreatic carcinoma, and acute leukemias. Studies have suggested that genetic polymorphisms of MTHFR (C677T) may clarify the causes and events involved in esophageal carcinogenesis. In this study, we evaluated MTHFR C677T and A1298C polymorphisms, and vitamin B12, folate, and plasma homocystein levels in patients with esophageal adenocarcinoma (EAC), Barrett's esophagus (BE), chronic esophagitis, and healthy controls (n = 26, n = 14, n = 30, and n = 30, respectively). The mean age of patients in the EAC and BE groups was significantly higher compared with the control group (P < 0.001, P = 0.003, respectively). In all patient groups, serum folate levels were significantly lower than that of the control group (P < 0.01, P < 0.05, and P < 0.01, respectively). There was no statistically significant association between folate levels and MTHFR gene polymorphisms. No differences were found in terms of MTHFR gene polymorphisms, homocystein, and B12 levels among the groups. MTHFR gene polymorphisms and folate deficiency are not predictors of early esophageal carcinoma. However, further studies using larger series of patients are needed to evaluate the effect of genetic polymorphisms in the folate metabolic pathway and to clarify the role of folate deficiency and folate metabolism in the development of esophagus adenocarcinoma.
Assuntos
Adenocarcinoma/genética , Esôfago de Barrett/genética , Neoplasias Esofágicas/genética , Esofagite Péptica/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Adenocarcinoma/etiologia , Adulto , Idoso , Esôfago de Barrett/etiologia , Estudos de Casos e Controles , Neoplasias Esofágicas/etiologia , Esofagite Péptica/etiologia , Feminino , Ácido Fólico/sangue , Deficiência de Ácido Fólico/complicações , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo GenéticoRESUMO
Several rare autosomal folate sensitive fragile sites were reported in individuals with mental retardation, neurological abnormalities, and multiple congenital malformations. Only three of them: fra(11)(q22.3), fra(X)(q27.3) and fra(X)(q28), are known to be associated with mental retardation and phenotypic abnormalities. A possible association of the other rare fragile sites with idiopathic mental retardation is still being discussed. Here, a girl who has a fragile site at 2q11 with minor congenital anomalies and mental retardation is presented. This case has recalled the question of idiopathic mental retardation that might be the clinical expression of rare FSFS. Fragility was observed at 2q11 with a frequency of 3% in her cells along with a partial endoreduplication at 2 q11-->qter.
Assuntos
Fragilidade Cromossômica/genética , Cromossomos Humanos Par 2/genética , Deficiência Intelectual/genética , Criança , Sítios Frágeis do Cromossomo , Feminino , Humanos , FenótipoAssuntos
Aneurisma Cardíaco/cirurgia , Cardiopatias Congênitas , Artéria Pulmonar/anormalidades , Veias Pulmonares/anormalidades , Angiocardiografia , Criança , Diagnóstico Diferencial , Eletrocardiografia , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/diagnóstico por imagem , Humanos , MasculinoAssuntos
Aorta/anormalidades , Cardiopatias Congênitas , Ventrículos do Coração/anormalidades , Ruptura Aórtica/diagnóstico , Cateterismo Cardíaco , Criança , Diagnóstico Diferencial , Erros de Diagnóstico , Circulação Extracorpórea , Seguimentos , Parada Cardíaca Induzida , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/cirurgia , Humanos , Masculino , MétodosAssuntos
Procedimentos Cirúrgicos Cardíacos , Vasos Coronários , Hipotermia Induzida , Angiografia , Cardiomegalia/diagnóstico por imagem , Emergências , Cardiopatias Congênitas/cirurgia , Humanos , Lactente , Ligadura , Masculino , Artéria Pulmonar/diagnóstico por imagem , Estenose da Valva Pulmonar/diagnóstico por imagem , Estenose da Valva Pulmonar/cirurgiaRESUMO
A method for the analysis of concentration-response curves is described. The parameters of these curves, namely, maximal response, apparent affinity, and slope factor, are calculated by means of a semiiterative approach using a microcomputer. Considerably less computer processing time is required than with other iterative nonlinear curve fitting methods. The method is particularly helpful in cases in which accurate observation of maximal response is limited.
Assuntos
Relação Dose-Resposta a Droga , Software , Animais , Aorta Torácica/efeitos dos fármacos , Interpretação Estatística de Dados , Microcomputadores , Piridinas/farmacologia , CoelhosRESUMO
A patient with a rare case of cardiac tumor in the right atrium secondary to Wilms' tumor of the right kidney, underwent open heart surgery and removal of the mass was presented. This is the 10th. case of intracardiac tumor secondary to renal malignancy. Careful auscultation of the heart is necessary in patients with malignancy in the kidney to detect the possible right heart metastases through the inferior vena cava. Cardiac symptoms precede the renal manifestations in most cases. Malignant renal metastases to the heart should always be in mind in space occupying masses of the right heart chambers.