Sandra Leistner Segal

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The polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene are associated with leukemogenesis. In order to investigate the influence of two polymorphisms in the MTHFR gene, 677C>T and 1298A>C, on the risk of acute lymphoblastic leukemia (ALL) we performed a case-control study in children from different Brazilians' regions. Genotyping of 176(More)
Intellectual disability affects approximately 1-3% of the population and can be caused by genetic and environmental factors. Although many studies have investigated the etiology of intellectual disability in different populations, few studies have been performed in middle-income countries. The present study estimated the prevalence of genetic causes related(More)
Angiosarcoma has been reported as occurring in both postirradiation and postradical mastectomy patients. Described is a patient, postmastectomy and irradiation, with alveolar hemorrhage secondary to angiosarcoma. Angiosarcoma, primary or metastatic to lung, should be included in the differential diagnosis of diffuse alveolar hemorrhage in this patient(More)
A patient is described in whom clinical presentation, V/Q scan, and pulmonary angiogram were consistent with pulmonary embolus. No improvement occurred despite therapy with heparin. When sent for surgical embolectomy, sarcoma of the pulmonary artery was diagnosed. This entity, though rare, should be considered in the differential diagnosis of pulmonary(More)
Friedreich’s ataxia (FDRA) is the most common inherited ataxia worldwide, caused by homozygous GAA expansions in the FXN gene. Patients usually have early onset ataxia, areflexia, Babinski sign, scoliosis and pes cavus, but at least 25 % of cases have atypical phenotypes. Disease begins after the age of 25 in occasional patients (late-onset Friedreich(More)
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