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1.
Mol Biol Rep ; 45(4): 621-624, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29855758

RESUMO

Deep vein thrombosis (DVT) is a common disease, especially among elderly patients, which is associated with high costs of treatment and high rates of recurrence. The risk factors for venous thrombosis are primarily related to hypercoagulability, which can be genetic or acquired, or because of immobilization and venous stasis. Among relevant genetic markers are a number of common polymorphisms and mutations in the genes coding for Factor V leiden and methylenetetrahydrofolate reductase. Differential associations of these polymorphisms have been reported in different populations with DVT due to ethnic variations. However, no study has been reported with respect to these polymorphisms in DVT in Iran. Thus, the aim of the present study is to determine the prevalence of FVL, MTHFR C677T and MTHFR A1298C gene polymorphisms in patients with DVT in central Iran. In the present cross-sectional study, a total of 100 patients with first and recurrent episodes of DVT and age less than 70 years were recruited during 2016-2017. Blood sample was collected from the recruited patients and FVL mutation was screened using ARMS-PCR method, MTHFR C677T and MTHFR A1298C mutations were screened using PCR-RFLP method. The results revealed that MTHFR A1298C gene polymorphism in both homozygote and heterozygote form was found to be most frequent i.e. 77% among cases, followed by MTHFR C677T (67%) and FVL (17%). The study highlights the importance of screening of these genetic markers among patients with DVT in this region.


Assuntos
Fator V/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Trombose Venosa/genética , Adulto , Idoso , Estudos de Casos e Controles , Estudos Transversais , Fator V/metabolismo , Feminino , Frequência do Gene , Predisposição Genética para Doença/genética , Genótipo , Homocistinúria/genética , Humanos , Irã (Geográfico)/epidemiologia , Masculino , Metilenotetra-Hidrofolato Redutase (NADPH2)/deficiência , Metilenotetra-Hidrofolato Redutase (NADPH2)/metabolismo , Pessoa de Meia-Idade , Espasticidade Muscular/genética , Mutação , Polimorfismo de Nucleotídeo Único/genética , Prevalência , Transtornos Psicóticos/genética , Fatores de Risco , Trombose Venosa/etiologia
2.
Respir Med Case Rep ; 22: 142-144, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28794967

RESUMO

Pleural effusion as one of the most common manifestations of pulmonary diseases is a rare symptom of anterior mediastinal teratoma that might mislead general physicians. In this study we report a rare case of pleural effusion and anterior mediastinal teratoma accompanying each other. The patient was a 21-year-old woman who suffered from dyspnea, cough, fever and manifestations of pleural effusion were obvious in chest X Ray (CXR). Computed tomography scan showed a cystic mass with lipid component. After thoracotomy, a mass was taken out from medial lobe of right lung and the results of pathology showed the mature mediastinal teratoma. The patient remained well with no evidence of recurrence on follow-up CXRs 6 months after the surgery.

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