ABSTRACT
Objetivo : Determinar la incidencia de hemoglobinopatías en recién nacidos tamizados en el Hospital del Niño de Panamá de agosto a diciembre 2009. Material y métodos : Realizamos evaluación retrospectiva de los resultados de la prueba de tamiz neonatal 8,620 de sexo masculino y femenino, que fueron tamizados para detección de hemoglobinopatías entre agosto y diciembre de 2009. Resultados: Se revisó en la base de datos del Programa de tamizaje Neonatal del Hospital del Niño, toda la información demográfica y los resultados de tamizaje neonatal para hemoglobinopatías; encontrando en 8,620 recién nacidos tamizados, 4,396 (51%) varones y 4,224 (49%) niñas. Se detectaron 591 (6.8%) hemoglobinopatías anormales con la siguiente distribución : 7 recién nacidos con HbFS (0.08%), 4 Hb FSC (0.05%) , 470 Hb FAS (5,4%), 89 con Hb C (1%), 19 con Hb FAB (0.1%), 1 con Hb FAD, y 1 con HbF. Conclusión: No podemos extrapolar los resultados obtenidos en este estudio preliminar de incidencia de hemoglobinopatías a la incidencia real de nuestra población , porque el porcentaje de cobertura es pequeño y además no contempla recién nacidos de tres regiones de salud con mayor población africana. Sin embargo, si consideramos que los resultados obtenidos en esta investigación son indicativos de que las hemoglobinopatías anormales todavía constituyen un problema de salud pública en Panamá.
Objective: To determine the incidence of hemoglobinopathies in newborns screened at the Hospital del Niño of Panama from August to December 2009. Material and methods: We retrospectively evaluate of the results of neonatal test newborns 8,620 male and female, who were screened for detection of hemoglobinopathies between August and December 2009. Results: We reviewed the database of Neonatal Screening Program at Hospital del Niño, finding in 8,620 screened newborns , 4,396 (51%) were males and 4,224 (49%) girls. Detected 591 (6.8%) abnormal hemoglobins with the following distribution: 7 newborns with HbFS (0.08%), 4 Hb FSC (0.05%), 470 Hb FAS (5.4%), 89 with Hb C , 19 with Hb FAB (0.1%), 1 with Hb FAD, and 1 with HbF. Conclusion: We can´t extrapolate results from this preliminary study to real incidence in our population, mainly because the coverage percentage is small and not include the newborns of these three health regions with significant African ascendance.However, if we take in account results from this research indicate that abnormal hemoglobinopathies still area a public health trouble in Panama.
ABSTRACT
La observación del incremento de internaciones por Traumatismos Encéfalo Craneanos en hospitales de 3º nivel motivó la realización del presente estudio que, mediante un enfoque cuantitativo, descriptivo y transversal busca conocer la magnitud del problema, sus causas y repercusiones reflejadas en las complicaciones, secuelas e implicaciones en la satisfacción de necesidades básicas.La muestra de estudio estuvo constituida por la totalidad de pacientes en el servicio de neurocirugía, durante los meses de junio, julio y agosto del 2010, utilizándose como instrumentos una guía de registro documental y otra de observación valoración, aplicados por la investigadora.Los resultados más significativos reflejan una frecuencia elevada de internaciones por esta causa (33 a 34 pacientes/mes). Siendo la población masculina, en edad laboralmente activa o universitaria, la más afectada.Las necesidades básicas más afectadas por las secuelas del traumatismo (epilepsia, síndrome de cautiverio, hemiplejia, tetraplejia, estado vegetativo y muerte cerebral) son las fisiológicas, de protección y seguridad, sin dejar de considerar sus implicaciones en las necesidades psicosociales que también son significativas.
Subject(s)
Humans , Bolivia , Craniocerebral Trauma/complications , Traumatology , Inpatient Care UnitsABSTRACT
OBJECTIVE: To analyze the frequency of the haplotypes of ß-globin gene cluster in randomly selected patients with sickle cell disease (SCD), attended in the Children's Hospital of Panama. METHODS: Five polymorphic sites in the ß-globin gene cluster were analyzed by polymerase chain reaction (PCR) followed by restriction digestion and agarose gel electrophoresis in a total of 100 patients, including 95 homozygous for HbS (sickle cell anemia) and 5 compound heterozygotes for HbS and HbC genes (HbSC disease). RESULTS: The Bantu haplotype was predominant with a frequency of 51%, followed by the Benin (30%), Senegal (8.5%), and Cameroon (4%); other haplotypes were also identified. Genotype was CAR/CAR in 39 patients, BEN/BEN in 22, SEN/SEN in 6, CAM/CAM in 4, ARB/ARB in 1, CAR/BEN in 15, CAR/SEN in 5, CAR/Hp5 in 3, CAR/Hp1 in 1, BEN/Hp11 in 1, Atp Hp1/Hp1 in 2, and Atp Hp5/Hp5 in 1 individual. Hemoglobin concentrations, hematocrit, and mean corpuscular hemoglobin concentration values did not differ among homozygous forms of haplotypes. The mean HbF in all patients was 15.39 ± 1.21, whereas SEN/SEN patients had higher HbF than BEN/BEN patients (24.26 ± 4.18 vs. 13.17 ± 2.39, respectively, P < 0.05). The percentage of reticulocytes was highest in BEN/BEN and CAR/CAR, and it was associated with worst prognosis. CONCLUSION: The results show the presence of common ß(S) haplotypes in Panama; the prevalence of African origin, and the similarity in the Panamanian and Colombian distribution of haplotypes.
Subject(s)
Anemia, Sickle Cell/genetics , Fetal Hemoglobin/genetics , Haplotypes , Hemoglobin, Sickle/genetics , Polymorphism, Genetic , beta-Globins/genetics , Adolescent , Child , Child, Preschool , Erythrocytes, Abnormal/pathology , Female , Genotype , Hospitalization , Humans , Infant , Male , Multigene Family , Panama , Polymerase Chain ReactionABSTRACT
OBJECTIVE: To correlate the clinical and hematological features of ß-globin gene haplotypes with the oxidative stress status in pediatric patients with sickle cell disease (SCD). METHODS: A total of 95 patients with SCD and 40 healthy children were studied. The ß-globin cluster, plasma lipid peroxidation (LPO) and plasma nitrite plus nitrate (NOx), and erythrocyte content of glutathione (GSH) and glutathione disulfide (GSSG), and glutathione peroxidase (GPx), reductase (GRd), and superoxide dismutase (SOD) activities were measured. RESULTS: Plasma LPO (P < 0.001) and NOx (P < 0.05) were significantly higher in patients than in controls. In erythrocytes of patients with SCD, the activities of GRd (P < 0.001) and SOD (P < 0.05) were lower, and the GSSG/GSH ratio (P < 0.001) and GPx activity (P < 0.001) were higher than in controls. High LPO levels and low SOD plus GRd activities were associated with increased severity of clinical manifestations, which correspond mainly to patients with Bantu and Benin haplotypes. LPO levels were reduced in patients with high fetal hemoglobin (HbF) levels, whereas the NOx levels and GRd activity tended to increase in this group. CONCLUSION: Our results detected an important oxidative stress in patients with SCD and suggest that at least three redox markers, i.e., LPO, GRd, and SOD, were related with their clinical outcomes. Moreover, a relationship between high HbF and low LPO, and high HbF and high GRd activity and NOx levels were found.
Subject(s)
Anemia, Sickle Cell/blood , Anemia, Sickle Cell/genetics , Haplotypes , Lipid Peroxidation , Multigene Family , Oxidative Stress , beta-Globins/genetics , Adolescent , Anemia, Sickle Cell/pathology , Child , Child, Preschool , Female , Fetal Hemoglobin/genetics , Fetal Hemoglobin/metabolism , Glutathione Disulfide/blood , Humans , Infant , Male , Nitrates/blood , Nitrites/blood , Oxidoreductases/blood , Severity of Illness Index , beta-Globins/metabolismABSTRACT
Presentamos el primer caso de enanismo tanatóforico en un neonato del sexo masculino de 36 semanas de gestación diagnosticado en el Hospitaldel Niño de Panamá. Esta entidad clínicamente se caracteriza por: talla baja desproporcionada a expensas de las extremidades cortas, vértebras planas, macrocráneo (o cabeza grande), puente nasal plano, incurvación de las extremidades con numerosos pliegues cutáneos y tronco estrecho de longitud normal. La severidad en la clínica como en los hallazgos radiográficos separan el enanismo tanatóforico de la acondroplasia