Novel mutations associated with pyruvate kinase deficiency in Brazil.

Background: Pyruvate kinase deficiency is a hereditary disease that affects the glycolytic pathway of the red blood cell, causing nonspherocytic hemolytic anemia. The disease is transmitted as an autosomal recessive trait and shows a marked variability in clinical expression. This study reports on the molecular characterization of ten Brazilian pyruvate kinase-deficient patients and the genotype-phenotype correlations.

Iron overload in a teenager with xerocytosis: the importance of nuclear magnetic resonance imaging.

To report a case of iron overload secondary to xerocytosis, a rare disease in a teenager, diagnosed, by T2* magnetic resonance imaging. We report the case of a symptomatic patient with xerocytosis, a ferritin level of 350ng/mL and a significant cardiac iron overload. She was diagnosed by T2* magnetic resonance imaging and received chelation therapy Ektacytometric analysis confirmed the diagnosis of hereditary xerocytosis.

Molecular and cytogenetic abnormalities in acute myeloid leukemia: review and case studies.

Objective: To study the frequency of mutations that may lead to a good or bad prognosis, as well as their relation with the karyotype and immunophenotype in patients with acute myeloid leukemia.

Methods: Thirty samples of patients with acute myeloid leukemia were studied, in which FLT3-ITD, FLT3-TKD and NPM1 mutations were investigated. All samples were submitted to immunophenotyping and 25 to karyotyping.

Correlation between flow cytometry and histologic findings: ten year experience in the investigation of lymphoproliferative diseases.

Objective: To demonstrate the advantages of correlating flow cytometry immunophenotyping with the pathology/ immunohistochemistry of lymph nodes or nodules in the diagnosis of lymphoproliferative diseases.

Methods: A retrospective study was carried out of 157 biopsy or fine-needle aspiration lymph nodes/ nodule specimens taken from 142 patients, from 1999 and 2009. The specimens were simultaneously studied with fow cytometry and pathology at Hospital Israelita Albert Einstein.

Functional alterations of rabbit erythrocytes induced by Loxosceles gaucho venom.

Loxoscelism is the syndrome caused by the brown spider Loxosceles gaucho bite in humans. Its effect on erythrocytes has been studied in humans, rabbits, pigs and guinea pigs. In this study, the damage that the L gaucho spider venom causes to the structure and function of erythrocytes in vivo was investigated in rabbits.