[Show abstract][Hide abstract] ABSTRACT: In this retrospective collaborative study, we have analyzed long-term outcome and donor cell engraftment in 194 patients with Wiskott-Aldrich syndrome (WAS) who have been treated by hematopoietic cell transplantation (HCT) in the period 1980- 2009. Overall survival was 84.0% and was even higher (89.1% 5-year survival) for those who received HCT since the year 2000, reflecting recent improvement of outcome after transplantation from mismatched family donors and for patients who received HCT from an unrelated donor at older than 5 years. Patients who went to transplantation in better clinical conditions had a lower rate of post-HCT complications. Retrospective analysis of lineage-specific donor cell engraftment showed that stable full donor chimerism was attained by 72.3% of the patients who survived for at least 1 year after HCT. Mixed chimerism was associated with an increased risk of incomplete reconstitution of lymphocyte count and post-HCT autoimmunity, and myeloid donor cell chimerism < 50% was associated with persistent thrombocytopenia. These observations indicate continuous improvement of outcome after HCT for WAS and may have important implications for the development of novel protocols aiming to obtain full correction of the disease and reduce post-HCT complications.
[Show abstract][Hide abstract] ABSTRACT: Hematopoietic Stem Cell transplantation (HSCT) is the treatment of choice for patients with high-risk leukemia. In spite of this, relapse remains a major cause of death of these patients. Our objective was to analyze the outcomes of patients with acute leukemia submitted to hematopoietic stem cell transplantation in two Brazilian institutions. A retrospective study of 208 patients transplanted between 1990 and 2007 with a median age of 9 years (range: 1-18 years) was made. One hundred and nineteen patients had acute lymphocytic leukemia (ALL) and 89 had acute myeloid leukemia (AML). Early disease was considered for CR1 and CR2 cases and advanced disease >CR3 and refractory and relapse disease. Ninety patients are alive between 258 and 6068 days after hematopoietic stem cell transplantation (M: 1438 days). The overall survival (OS) was 45% (3 years) and event free survival (EFS) was 39% (3 years). Primary graft failure occurred in 14/195 patients (8%). There were no differences in the overall survival and event free survival between patients with acute lymphocytic leukemia and acute myeloid leukemia, between sources of cells used or between those who developed acute or chronic graft-versus-host disease (GVHD). When comparing transplants from related and unrelated donors, there was no difference in the overall survival. Patients with acute lymphocytic leukemia receiving the total body irradiation (TBI) conditioning regimen had better overall survival and event free survival (p<0.001). One hundred and eighteen patients died between 0 and 1654 days after hematopoietic stem cell transplantation (M: 160 days). Transplantation-related-mortality (TRM) at D+100 was 16% and cumulative incidence of relapse was 40% (3 years). Patients with advanced disease had lower 3-year overall survival and event free survival (p<0.001). Multivariate analysis showed that disease status was the most significant factor associated with higher event free survival and overall survival . Our results show that children and adolescents transplanted with early disease can achieve considerable overall survival and also highlights the inefficacy of hematopoietic stem cell transplantation for patients with advanced disease.
Revista Brasileira de Hematologia e Hemoterapia 12/2009; 32(5):350-357.
[Show abstract][Hide abstract] ABSTRACT: Recentes mudanças foram introduzidas na forma de ventilar crianças com doenças que determinam o quadro de insuficiência respiratória aguda hipoxêmica. Há evidências que estratégias ventilatórias menos agressivas, melhoram a sobrevida de pacientes com grave lesão pulmonar. Estudos experimentais evidenciaram relação entre modalidades ventilatórias inapropriadas e retardo na melhora e até mesmo piora da lesão pulmonar aguda. A partir desta concepção, surge uma estratégia ventilatória protetora, combinada à manobra de recrutamento alveolar. Acredita-se, que esta associação na prática clínica, determina importante redução da morbidade e mortalidade, bem como, prevenção das lesões induzidas pela ventilação mecânica. Sua indicação relaciona-se com quadros de lesão pulmonar aguda, geralmente decorrente de pneumonia ou sepse, que cursam com grave hipoxemia. Suas principais contra-indicações são instabilidade hemodinâmica, presença de pneumotórax e hipertensão intracraniana. Estudos experimentais demonstraram efeitos benéficos da manobra sobre a oxigenação e colapso alveolar. Estudos em adultos demonstraram melhora da função pulmonar e reversão da hipoxemia. Em crianças, a manobra demonstrou significativa redução da fração inspirada de oxigênio e do colapso alveolar, menor dependência ao oxigênio, melhora da complacência pulmonar e menor índice de displasia broncopulmonar. Porém, os estudos em pediatria são limitados. Faz-se necessária maior investigação sobre o tema e evidências de sua aplicação clínica. Foi realizada revisão da literatura, com pesquisa de livros-texto e nas bases de dados da MEDLINE, Pubmed, Cochrane library, SciELO e Ovid, no período de 1998 até 2009, em português e inglês. Foram incluídas publicações acerca da manobra de recrutamento alveolar em adultos e crianças, artigos de revisão, estudos experimentais e ensaios clínicos utilizando as palavras-chave: estratégia ventilatória protetora, manobra de recrutamento alveolar, pediatria e ventilação mecânica.
Revista Brasileira de Terapia Intensiva 12/2009; 21(4):453-460.
[Show abstract][Hide abstract] ABSTRACT: Omenn syndrome (OS) is a rare combined immunodeficiency characterized by erythroderma, lymphadenopathy, and autoimmune manifestations. Most cases are due to mutations in the RAG genes. We report a case of OS due to mutations of IL7RA, thus defining Omenn syndrome as a genetically heterogeneous condition.
Journal of Pediatrics 03/2006; 148(2):272-4. · 4.04 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: To assess the use of lactate as a marker of tissue hypoperfusion and as a prognostic index in critically ill patients.
Prospective, longitudinal, observational study of 75 patients admitted to the pediatric ICU of Hospital de Clínicas of Universidade Federal do Paraná, between November 1998 and May 1999. According to the lactate level on admission, patients were divided into group A (lactate > or = 18 mg/dl) and group B (lactate < 18 mg/dl). In terms of outcome, patients were classified into survivors and nonsurvivors. In group A, the clinical evaluation and the collection of arterial blood samples were performed on admission, at 6, 12, 24, 48 hours, and every 24 hours after that. In group B, they were carried out in the same way, but interrupted 48 hours after admission.
Groups A and B consisted of 50 and 25 patients, respectively. Group A presented more clinical signs of hypoperfusion (24/50). There was a statistically significant difference regarding the mean lactate levels on admission between those patients who died within 24 hours of admission (95 mg/dl) and those who died 24 hours after admission (28 mg/dl). The lactate level at 24 hours of admission revealed better sensitivity (55.6%) and specificity (97.2%) as a predictor of death.
Most patients with lactate levels > or = 18 mg/dl showed clinical signs of hypoperfusion on admission. The normalization or reduction of lactate levels at and after 24 hours of admission was significantly related with higher chances of survival.
Jornal de Pediatria 01/2005; 81(4):287-92. · 1.15 Impact Factor