RESUMEN
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.
Asunto(s)
Anemia de Células Falciformes/diagnóstico , Anemia de Células Falciformes/epidemiología , Tamizaje Neonatal/métodos , Evaluación de Programas y Proyectos de Salud/estadística & datos numéricos , Factores de Edad , Brasil/epidemiología , Estudios Transversales , Femenino , Humanos , Incidencia , Recién Nacido , Nacimiento Vivo/epidemiología , Masculino , Estudios Retrospectivos , Factores de TiempoRESUMEN
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/mm(3) 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/mm(3) at diagnosis lived. Overall survival was higher in patients with MRD <0.1%. The prognosis was better in patients with AML-M3.
Asunto(s)
Leucemia Mieloide Aguda/mortalidad , Brasil/epidemiología , Causas de Muerte , Niño , Preescolar , Femenino , Citometría de Flujo , Humanos , Lactante , Leucemia Mieloide Aguda/diagnóstico , Masculino , Neoplasia Residual , Pronóstico , Estudios Retrospectivos , Choque Séptico , Tasa de SupervivenciaRESUMEN
OBJECTIVE: To analyze pediatric cancer hospital records regarding the occurrence of new cases; to verify the relation between sex, age, race, origin and the disease clinical extension; to describe the mortality of children with cancer; to explore the association of new cases with proposed demographic variables, disease clinical extension and vital status. METHODS: Observational, descriptive, longitudinal study in children up to 14 years old, from Santa Catarina. Three hundred and seventy-one new cases of cancer were treated in a regional reference outpatient clinic (1994-98) and recorded according to the International Classification of Childhood Cancer. Multiple Correspondence Analysis was applied to evaluate the categorical variables. RESULTS: Three-hundred and seventy-one new cases of cancer were recorded with constant distribution in each year. Cancer affected preschoolers (41.5%) and males (55.8%). Leukemia was observed in 36.6% of the cases. Non-localized stage on the diagnosis occurred in 55.7%. The death occurred in 55.7% of the cases with non-localized disease and 16.3% with localized disease. At the end of the study 58.8% of the children were alive. CONCLUSIONS: We observed more cases of cancer at pre-school age and among male subjects. Leukemia is the most frequent type of cancer. Non-localized disease predominates on the diagnosis. The death frequency is higher in the group with non-localized disease. There is direct association with non-localized disease, living vital status, school age, adolescent age, female, and for non-localized disease with death vital status, infant age, pre-school age and male.
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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.155C > G; c.156_178 del23 bp; c.29_30 del GG; c.182C > A and c.151A > T,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.