Câncer pediátrico: análise do registro hospitalar de um centro de referência de Santa Catarina /

Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde.Analisa o registro hospitalar de câncer pediátrico, de um centro de referência de Santa Catarina , adotando métodos mais apropriados à coleta, registro e classificação para essa faixa etária. Descreve a ocorrência de casos novos de câncer e a sua mortalidade em relação ao sexo, cor, idade, procedência e extensão clínica da doença. Explora a associação da ocorrência de casos novos e da mortalidade dessas crianças em relação as variáveis demográficas propostas, à extensão clínica da doença e ao status vital. Ressalta a escassez e a importância da realização de estudos epidemiológicos descritivos, bem como a execução de estudos analíticos multicêntricos que possibilitem identificar fatores de risco para o câncer pediátrico

Evaluation of a neonatal screening program for sickle-cell disease,

Abstract Objective Evaluate the Neonatal Screening Program of the Health Secretariat of the State of Santa Catarina for sickle-cell disease, from January 2003 to December 2012, regarding program coverage and disease frequency. Methods Descriptive, observational, cross-sectional study with retrospective data collection. The variables analyzed were: number of live births in the State of Santa Catarina; number of screened children; number of children diagnosed with sickle-cell trait and sickle-cell disease; type of sickle-cell disease diagnosed; age at the time of sample collection, ethnicity/skin color, gender, and origin of children with sickle-cell disease. Descriptive measures and frequency tables were used for data analysis. Results During the study period, there were 848,833 live births and 730,412 samples were screened by the program, resulting in a coverage of 86.0%. There were 6173 samples positive for sickle-cell trait and 39 for sickle-cell disease. Among children with sickle-cell disease, the median age at the time of sample collection was 6 days. Regarding the ethnicity/skin color, 25 (64.1%) children were white, seven were black, and seven others were not specified. The Midwest and the Highland (Planalto Serrano) of Santa Catarina were the regions with the highest incidence of sickle-cell disease. Conclusion Coverage by the Neonatal Screening Program of Santa Catarina is good, but did not demonstrate an improvement trend over the years. The frequency of sickle-cell disease is low and lower than in the North, Northeast, and Midwest regions. The median age in days at the time of collection is older than the age recommended by the Ministry of Health

Acute Myeloid Leukemia: analysis of epidemiological profile and survival rate

Abstract Objective: To describe the epidemiological profile and the survival rate of patients with acute myeloid leukemia (AML) in a state reference pediatric hospital. Method: Clinical-epidemiological, observational, retrospective, descriptive study. The study included new cases of patients with AML, diagnosed between 2004 and 2012, younger than 15 years. Results: Of the 51 patients studied, 84% were white; 45% were females and 55%, males. Regarding age, 8% were younger than 1 year, 47% were aged between 1 and 10 years, and 45% were older than 10 years. The main signs/symptoms were fever (41.1%), asthenia/lack of appetite (35.2%), and hemorrhagic manifestations (27.4%). The most affected extra-medullary site was the central nervous system (14%). In 47% of patients, the white blood cell (WBC) count was below 10,000/mm3 at diagnosis. The minimal residual disease (MRD) was less than 0.1%, on the 15th day of treatment in 16% of the sample. Medullary relapse occurred in 14% of cases. When comparing the bone marrow MRD with the vital status, it was observed that 71.42% of the patients with type M3 AML were alive, as were 54.05% of those with non-M3 AML. The death rate was 43% and the main proximate cause was septic shock (63.6%). Conclusions: In this study, the majority of patients were male, white, and older than 1 year. Most patients with WBC count <10,000/mm3 at diagnosis lived. Overall survival was higher in patients with MRD <0.1%. The prognosis was better in patients with AML-M3

Detection of mutations in GATA1 gene using automated denaturing high-performance liquid chromatography and direct sequencing in children with Down syndrome

Denaturing high-performance liquid chromatography (dHPLC) was developed to screen DNA variations by separating heteroduplex and homoduplex DNA fragments by ion-pair reverse-phase liquid chromatography. in this study, we have evaluated the dHPLC screening method and direct sequencing for the detection of GATA1 mutations in peripheral blood and bone marrow aspirates samples from children with Down syndrome (DS). Cases were ascertained consecutively as part of an epidemiological study of DS and hematological disorders in Brazil. A total of 130 samples corresponding to 115 children with DS were analysed using dHPLC and direct sequencing methods to detect mutations in GATA1 exons 2, 3 and 4 gene sequences. the overall detection rate of sequencing and dHPLC screening methods was similar. Twenty mutations were detected in exon 2 and one mutation in exon 3 (c.231_232 dupGT) sequences of acute megakaryoblastic leukemia and transient leukemia samples. Four GATA1 mutations were newly described [c.155CG; c.156_178 del23 bp; c.29_30 del GG; c.182CA and c.151AT,c.153_162 del 10 bp). Out of four, three had single nucleotide change. in conclusion, our results indicate that dHPLC is an efficient and valuable tool for GATA1 mutational analysis.Inst Nacl Canc, Div Genet CPq, BR-20331050 Rio de Janeiro, BrazilHosp Darcy Vargas, Pediat Oncohematol Serv, São Paulo, BrazilSoc Oncol Bahia, Salvador, BrazilCtr Infantil Invest Hematol D Boldrini, São Paulo, BrazilHosp Santa Casa Misericordia, Pediat Oncohematol Serv, Itabuna, Bahia, BrazilHosp Martagao Gesteira, Pediat Oncohematol Serv, Salvador, BA, BrazilUniv Santa Maria Rio Grande Sul, Dept Hematol, Porto Alegre, RS, BrazilHosp Joana Gusmao Florianopolis, Pediat Oncohematol Serv, Santa Catarina, BrazilUniversidade Federal de São Paulo, Inst Oncol Pediat, São Paulo, BrazilHosp AC Camargo Fund Antonio Prudente, Pediat Oncohematol Serv, São Paulo, BrazilHosp Canc Cascavel, UOPECCAN, Cascavel, Parana, BrazilHosp Napoleao Laureano, Joao Pessoa, Paraiba, BrazilUFRJ, Inst Pediat & Puericultura Martagao Gesteira, Rio de Janeiro, Paraiba, BrazilHosp Serv Estado Rio de Janeiro, Dept Pediat, Rio de Janeiro, BrazilUniversidade Federal de São Paulo, Inst Oncol Pediat, São Paulo, BrazilWeb of Scienc