RESUMO
Thalassemia-free survival after allogeneic stem cell transplantation (SCT) is about 80-90% with either matched-related or -unrelated donors. We explored the use of a mismatched-related ('haplo- ') donor. All patients received two courses of pretransplant immunosuppressive therapy (PTIS) with fludarabine (Flu) and dexamethasone (Dxm). After two courses of PTIS, a conditioning regimen of rabbit antithymocyte globulin, Flu and IV busulfan (Bu) was given followed by T-cell-replete peripheral blood progenitor cells. GvHD prophylaxis consisted of cyclophosphamide (Cy) on days SCT +3 and +4 (post-Cy), and on day SCT +5 tacrolimus or sirolimus was started together with a short course of mycophenolate mofetil. Thirty-one patients underwent haplo-SCT. Their median age was 10 years (range, 2-20 years). Twenty-nine patients engrafted with 100% donor chimerism. Two patients suffered primary graft failure. Median time to neutrophil engraftment was 14 days (range, 11-18 days). Five patients developed mild to moderate, reversible veno-occlusive disease, while nine patients developed acute GvHD grade II. Only five patients developed limited-chronic GvHD. Projected overall and event-free survival rates at 2 years are 95% and 94%, respectively. The median follow up time is 12 months (range, 7-33 months).
Assuntos
Transplante de Células-Tronco Hematopoéticas/métodos , Transplante de Células-Tronco de Sangue Periférico/métodos , Transplante Haploidêntico/métodos , Talassemia beta/terapia , Adolescente , Remoção de Componentes Sanguíneos , Criança , Pré-Escolar , Intervalo Livre de Doença , Sobrevivência de Enxerto , Transplante de Células-Tronco Hematopoéticas/mortalidade , Hemoglobina E , Homozigoto , Humanos , Imunossupressores/uso terapêutico , Lactente , Transplante de Células-Tronco de Sangue Periférico/mortalidade , Taxa de Sobrevida , Condicionamento Pré-Transplante/métodos , Transplante Haploidêntico/mortalidade , Adulto JovemAssuntos
Mutação , Porfiria Eritropoética/diagnóstico , Porfiria Eritropoética/genética , Uroporfirinogênio III Sintetase/genética , Transplante de Medula Óssea , Análise Mutacional de DNA , Feminino , Hepatomegalia , Humanos , Lactente , Fenótipo , Porfiria Eritropoética/terapia , Esplenomegalia , Tailândia , Transplante Homólogo , Resultado do TratamentoAssuntos
Cognição , Edema/terapia , Transplante de Células-Tronco Hematopoéticas , Hemoglobinas Anormais/imunologia , Adulto , Transfusão de Sangue , Linhagem da Célula , Pré-Escolar , Quimerismo , Edema/diagnóstico , Feminino , Heterozigoto , Humanos , Linfócitos/citologia , Gravidez , Irmãos , Talassemia/genética , Resultado do TratamentoRESUMO
INTRODUCTION: Deficiencies of protein C, protein S, and antithrombin are the main inherited risk factors in Thai patients with venous thromboembolism, although the prevalence is not high. METHODS: To evaluate the appropriate use of the testing for these proteins, the test orders of 503 patients were retrospectively reviewed using the proposed guidelines. Inter-rater reliability between two investigators was also calculated. RESULTS: Of 503, 459 (91%; 95% confidence interval 88-93%) of the test orders were inappropriate. The most common cause of inappropriateness was testing during acute thrombosis (42.5%). Results were inconclusive in 105 (20.9%) patients who had isolated decrease in one of the proteins, mostly owing to lack of confirmation of the abnormal results. Kappa index for the reliability of two investigators was 0.79. CONCLUSION: To enhance the appropriate use of hereditary thrombophilia screening tests, physician education concerning the patient selection, suitable timing for testing and repetition of the tests with abnormal results should be emphasized.
