226 research outputs found

    Screening for hotspot mutations in PI3K, JAK2, FLT3 and NPM1 in patients with myelodysplastic syndromes

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    INTRODUCTION: Myelodysplastic syndromes encompass a heterogeneous group of clonal hematopoietic stem cell disorders characterized by ineffective hematopoiesis, refractory cytopenia and a tendency to progress toward acute myeloid leukemia. The accumulation of genetic alterations is closely associated with the progression of myelodysplastic syndromes toward acute myeloid leukemia. OBJECTIVE: To investigate the presence of mutations in the points most frequent for mutations (hotspot mutations) in phosphatidylinositol-3-kinase (PI3K), Janus kinase 2 (JAK2), FMS-like tyrosine kinase 3 (FLT3) and nucleophosmin (NPM1), which are involved in leukemia and other cancers, in a population of Brazilian MDS patients. METHODS: Fifty-one myelodysplastic syndromes patients were included in the study. According to French-American-British classification, the patients were distributed as follows: 31 with refractory anemia, 8 with refractory anemia with ringed sideroblasts, 7 with refractory anemia with excess blasts, 3 with refractory anemia with excess blasts in transformation and 2 with chronic myelomonocytic leukemia. Bone marrow samples were obtained and screened for the presence of hotspot mutations using analysis based on amplification with the polymerase chain reaction, sequencing, fragment size polymorphisms or restriction enzyme digestion. All patients were screened for mutations at the time of diagnosis, and 5 patients were also screened at the time of disease progression. RESULTS: In the genes studied, no mutations were detected in the patients at the time of diagnosis. One patient with chronic myelomonocytic leukemia was heterozygous for a Janus kinase 2 mutation after disease progression. CONCLUSIONS: These results show that hotspot mutations in the PI3K, JAK2, FLT3 and NPM1 genes are not common in MDS patients; nevertheless, JAK2 mutations may be present in myelodysplasia during disease progression

    A MULTICENTER, OBSERVATIONAL, AMBISPECTIVE STUDY EVALUATING EFFICACY AND SAFETY OF GENERIC IMATINIB COMPARED TO GLEEVEC IN CHRONIC MYELOGENOUS LEUKEMIA IN CHRONIC PHASE-3 MONTHS RESPONSE ANALYSIS

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    Univ Estadual Campinas, Hematol & Hemotherapy Ctr, Campinas, SP, BrazilUniv Fed Minas Gerais, Hosp Clin, Belo Horizonte, MG, BrazilInst Nacl Cancer, Rio De Janeiro, BrazilFac Med, Sao Paulo, BrazilUniv Sao Paulo, Sao Paulo, BrazilHemorio, Rio De Janeiro, BrazilHosp Clin Porto Alegre, Porto Alegre, RS, BrazilCtr Pesquisa Oncol Santa Catarina, Florianopolis, SC, BrazilUniv Fed Bahia, Salvador, BA, BrazilUniv Fed Sao Paulo, Sao Paulo, BrazilInst Estudos & Pesquisas Sao Lucas, Sao Paulo, BrazilUniv Estadual Campinas, Campinas, SP, BrazilUniv Fed Sao Paulo, Sao Paulo, BrazilWeb of Scienc

    Right ventricular-arterial uncoupling independently predicts survival in COVID-19 ARDS

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    Aim: To investigate the prevalence and prognostic impact of right heart failure and right ventricular-arterial uncoupling in Corona Virus Infectious Disease 2019 (COVID-19) complicated by an Acute Respiratory Distress Syndrome (ARDS). Methods: Ninety-four consecutive patients (mean age 64 years) admitted for acute respiratory failure on COVID-19 were enrolled. Coupling of right ventricular function to the pulmonary circulation was evaluated by a comprehensive trans-thoracic echocardiography with focus on the tricuspid annular plane systolic excursion (TAPSE) to systolic pulmonary artery pressure (PASP) ratio Results: The majority of patients needed ventilatory support, which was noninvasive in 22 and invasive in 37. There were 25 deaths, all in the invasively ventilated patients. Survivors were younger (62 ± 13 vs. 68 ± 12 years, p = 0.033), less often overweight or usual smokers, had lower NT-proBNP and interleukin-6, and higher arterial partial pressure of oxygen (PaO2)/fraction of inspired O2 (FIO2) ratio (270 ± 104 vs. 117 ± 57 mmHg, p < 0.001). In the non-survivors, PASP was increased (42 ± 12 vs. 30 ± 7 mmHg, p < 0.001), while TAPSE was decreased (19 ± 4 vs. 25 ± 4 mm, p < 0.001). Accordingly, the TAPSE/PASP ratio was lower than in the survivors (0.51 ± 0.22 vs. 0.89 ± 0.29 mm/mmHg, p < 0.001). At univariate/multivariable analysis, the TAPSE/PASP (HR: 0.026; 95%CI 0.01–0.579; p: 0.019) and PaO2/FIO2 (HR: 0.988; 95%CI 0.988–0.998; p: 0.018) ratios were the only independent predictors of mortality, with ROC-determined cutoff values of 159 mmHg and 0.635 mm/mmHg, respectively. Conclusions: COVID-19 ARDS is associated with clinically relevant uncoupling of right ventricular function from the pulmonary circulation; bedside echocardiography of TAPSE/PASP adds to the prognostic relevance of PaO2/FIO2 in ARDS on COVID-19

    Clinical features and outcomes of 134 Brazilians with acute promyelocytic leukemia who received ATRA and anthracyclines

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    We report an increased incidence of high relapse risk features in 157 APL Brazilian patients. Out of 134 patients treated with ATRA and anthracyclines, only 91 (67.9%) achieved remission because 43 (32%) died during induction. the death rate during consolidation was 10.5%. Bleeding complications were the most frequent cause of failure (21.6%).Med Sch Riberao Preto, Dept Internal Med, Ribeirao Preto, BrazilHosp Amaral Carvalho, Bone Marrow Transplantat Unit, Jau, BrazilUniv Fed Minas Gerais, Hematol Serv, Belo Horizonte, MG, BrazilSanta Casa São Paulo, Hematol Serv, São Paulo, BrazilFundacao Pio XII Barretos, Barretos, BrazilClin Hematol Riberao Preto, Ribeirao Preto, BrazilUniversidade Federal de São Paulo, Dept Hematol & Hemotherapy, São Paulo, BrazilUniv Estadual Campinas, Hemoctr, Campinas, BrazilSt Jude Childrens Hosp, Internal Outreach Program, Memphis, TN USAUniversidade Federal de São Paulo, Dept Hematol & Hemotherapy, São Paulo, BrazilWeb of Scienc

    Produção orgânica de calêndula: um estudo de caso.

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    Apresenta-se caracterização do processo de produção agrícola orgânica de Calendula officinalis L. no Estado de Santa Catarina, evidenciando particularidades e discrepâncias frente aos modelos já descritos na literatura especializada, a partir de visitas a campo, observação participante e entrevistas com um produtor de plantas medicinais. Identificaram-se como principais particularidades a saúde na agricultura familiar, demonstrada pela prática da cultura orgânica, além do controle de pragas e manuseio da produção. Os principais problemas ou divergências evidenciados foram: características do solo; época de plantio da calêndula e suas etapas posteriores, como transplante e floração. Aspectos da colheita foram discrepantes quanto ao período do dia indicado para o procedimento, bem como a ausência de informações do produtor quanto à existência de outros incentivos governamentais ao setor agrícola. Recomenda-se aos extensionistas rurais e/ou instituições competentes que busquem orientar os produtores orgânicos de calêndula para promover a adequação das práticas de cultivo dessa espécie medicinal
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