Sickle cell anemia, considered the most prevalent genetic disease among African Americans, is a disease with autosomal recessive inheritance pattern, characterized by the production of hemoglobin S. This abnormal protein polymerizes and facilitates the formation of fibrillar aggregates that alters the erythrocyte morphology. The stiffness of the red blood cells hinders the adequate transit across microcirculation, leading to hemolysis and increased blood viscosity, which ease thrombogenesis and vascular occlusion, resulting in tissue ischemia and microinfarcts. This disease has a high rate of morbidity and mortality, especially in the first three years of life, when a rapid diagnosis and appropriate treatment are essential. Cardiovascular complications such as heart failure and pulmonary hypertension may develop independently, and each one contributes to increased mortality, being the combination of both risk factors, an important aggravating factor for prognosis and a determinant indicator of mortality.

RESUMENObjetivo Realizar un análisis de costo efectividad comparando el método de cultivo en agar de capa delgada y el método estándar de proporciones múltiples, utilizados en el diagnóstico de Tuberculosis Multi-drogorresistente (TB MDR). Métodos Estudio de evaluación económica en el cual se evalúan los costos y la efectividad de dos pruebas diagnósticas, ejecutado en la Corporación para Investigaciones Biológicas-CIB en Medellín, Colombia. Resultados Se evaluaron 100 pacientes, encontrando una prevalencia de resistencia a la Rifampicina de 10,8 % y resistencia a Isoniazida de 14,3 %. Se presenta un análisis en términos de costo-efectividad mediante el diseño de un árbol de decisiones (Treeage Pro ® ), resultando ser la prueba basada en cultivo en agar de capa delgada más costo-efectiva; con valores de sensibilidad, especificidad y predictivos del 100 % para detectar resistencia a Rifampicina e Isoniazida. El valor del método de las proporciones múltiples fue calculado en US$ 71, con una media de tiempo para ser reportado de 49 días versus US$ 18 y 14 días respectivamente para el cultivo en agar de capa delgada. Discusión Se han desarrollado nuevas tecnologías para el diagnóstico de Tuberculosis, aparentemente más rápidas y efectivas, que deben ser evaluadas no solo en sus características operativas, sino también en términos de costo-efectividad. El presente estudio establece que el empleo de la capa delgada es menos costoso, igualmente efectivo, y puede aportar resultados más rápidamente; cuando se compara con el método tradicional. Esto implica, entre otros aspectos, que el paciente pueda recibir más oportunamente el tratamiento dirigido para TB MDR. REVISTA DE SALUD PÚBLICA · Volumen 16 (1), Febrero 2014 102Palabras Clave: Tuberculosis resistente a múltiples medicamentos, mycobacterium tuberculosis, diagnóstico, evaluación de costo-efectividad (fuente: DeCS, BIREME). ABSTRACTObjective Using cost-benefit analysis for comparing the thin-layer agar culture method to the standard multiple proportion method used in diagnosing multidrugresistant tuberculosis (MDR TB). Methods A cost-benefit evaluation of two diagnostic tests was made at the Corporación para Investigaciones Biológicas (CIB) in Medellín, Colombia. Results 100 patients were evaluated; 10.8 % rifampicin resistance and 14.3 % isoniazid resistance were found. A computer-based decision tree model was used for cost-effectiveness analysis (Treeage Pro); the thin-layer agar culture method was most cost-effective, having 100 % sensitivity, specificity and predictive values for detecting rifampicin and isoniazid resistance. The multiple proportion method value was calculated as being US$ 71 having an average 49 day report time compared to US$ 18 and 14 days for the thin-layer agar culture method. Discussion New technologies have been developed for diagnosing tuberculosis which are apparently faster and more effective; their operating characteristics must be evaluated as must their effectiveness in terms of cost-benefit. The present study established that using...

Purpose: Our purpose was to describe the phenotypic features and test for association of genes GRIN2A, RBFOX1 and RBFOX3 with rolandic epilepsy in patients from Colombia. Methods: Thirty patients were enrolled. A structured interview was applied. In addition, saliva samples were collected from the patients and their parents. One polymorphism in each of GRIN2A, RBFOX1 and RBFOX3 genes was tested. Results: The average age at onset was 5.3 years. Almost half the sample presented prolonged seizures (>5 minutes); although the majority of the patients presented their seizures only while asleep, over a quarter presented them only while awake. The most frequent comorbidity was the presence of symptoms compatible with attention-deficit hyperactivity disorder (ADHD). Personal history of febrile seizures and parasomnias were equally frequent (20%). Family history of any type of epilepsy was reported in 80% of the patients, followed by migraine (73.3%) and poor academic performance (63.3%). About half the sample reported sleepwalking in parents or sibs. Most patients had received pharmacologic treatment. We found no association of rolandic epilepsy with the single nucleotide polymorphisms tested. Conclusions: Our rolandic epilepsy cohort presents clinical features clearly different from other cohorts. For instance, age at onset is much earlier in our set of patients, and personal and family history of febrile seizures as well as parasomnias are highly prevalent in our sample. No association of rolandic epilepsy with variants at the 3 genes tested was found. This lack of association may reflect the high genetic heterogeneity of the epilepsies.

To establish differences in the genotoxic effect of particulate matter (PM 10 ) in exposed individuals at two sites in the Valle de Aburrá (VA). This was a descriptive cross-sectional study of 2 groups of individuals exposed to 67.7 and 45 µg/m 3 of PM 10 for a minimum of 8 hours/day. The frequency of Chromosomal Abnormalities (CAs) and the mitotic index were evaluated based on blood samples. The data were processed using SPSS version 18.0 and significant differences were established between the groups at p<0.05. One hundred eighteen individuals were evaluated: 56.8% at site 1 and 43.2% at site 2. The study population had an average age of 53 years. Significant differences were found between the numbers of CAs (p = 0.003) detected at the sample sites. Site 1 displayed a higher number of CAs than site 2, likely because site 1 is located in an area of the VA that is more exposed to environmental contamination. Furthermore, this study showed that there is a relationship between the level of particulate matter and an increase in a biomarker for CAs, establishing a possible health risk in this population, especially for those who remain there for long periods of time.