RESUMO
La leucemia/linfoma de células T del adulto ( Adult T-Cell Leukemia/Lymphoma , ATLL) es una neoplasia maligna de los linfocitos T CD4 maduros, que resulta de la infección con el virus T-linfotrópico humano de tipo 1 (HTLV-1), con varias manifestaciones sistémicas y cutáneas. Se presentan dos casos de leucemia/linfoma de células T del adulto en pacientes del suroccidente de Colombia, cuyos diagnósticos fueron confirmados por histología, inmunohistoquímica, citometría de flujo y pruebas ELISA y Western blot. También, se discute acerca del virus y cómo hacer el diagnóstico en países como el nuestro.
Adult T-cell leukemia/lymphoma (ATLL) is a malignant neoplasia of mature CD4+ T lymphocytes,resulting from infection with human T-lymphotropic virus type 1 (HTLV-1), with several systemic and cutaneous manifestations. We present two cases of adult T-cell leukemia/lymphoma, in patients from the Colombian Southwestern region, whose diagnoses were confirmed by histology, immunohistochemistry, flow cytometry, ELISA and Western blot tests. We also discuss about the virus and how to make this diagnosis in countries like Colombia.
Assuntos
Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Leucemia-Linfoma de Células T do Adulto/diagnóstico , ColômbiaRESUMO
Adult T-cell leukemia/lymphoma (ATLL) is a malignant neoplasia of mature CD4+ T lymphocytes,resulting from infection with human T-lymphotropic virus type 1 (HTLV-1), with several systemic and cutaneous manifestations. We present two cases of adult T-cell leukemia/lymphoma, in patients from the Colombian Southwestern region, whose diagnoses were confirmed by histology, immunohistochemistry, flow cytometry, ELISA and Western blot tests. We also discuss about the virus and how to make this diagnosis in countries like Colombia.
Assuntos
Leucemia-Linfoma de Células T do Adulto/diagnóstico , Idoso , Colômbia , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
INTRODUCTION: The hemoglobin S (HbS) mutation is accompanied by other mutations in the region of chromosome 11 known as "beta globin cluster". The pattern of combination of these polymorphisms giving rise to the haplotypes that co-inherit the HbS mutation, are called haplotypes bs, and are of great epidemiological and clinical significance. OBJECTIVE: The frequencies of major haplotypes associated with S beta-globin gene was determined in Colombian patients heterozygous for hemoglobin S. MATERIALS AND METHODS: As part of the national neonatal screening program at Clínica Colsanitas, located in major cities of Colombia, nearly 1,200 children from different areas of the country were examined for hemoglobinopathies. The sickle cell trait was identified as the most common. S beta-globin gene haplotypes were determined by PCR and restriction enzymes in 33 children with AS hemoglobin electrophoretic patterns (carrier state). In addition, electrophoretic patterns of hemoglobin, fetal hemoglobin levels and hematologic parameters of each individual were identified. RESULTS: The most frequent haplotypes in Colombia were the Bantú haplotype (36.4 %), followed by Senegal (30.3 %), Benin (21.2 %) and Cameroon (12.1 %) haplotypes. Hemoglobin electrophoresis confirmed the AS phenotype in all patients, and fetal hemoglobin levels below 1%. Other hematological parameters were normal in all cases. CONCLUSION: The HbS haplotypes found more frequently in the sample were of African origin, and their distribution varied according to the place of origin of the individual. The most frequent corresponded to the Bantu haplotype.
Assuntos
Anemia Falciforme/genética , Hemoglobina Falciforme/genética , Globinas beta/genética , África Subsaariana/etnologia , Anemia Falciforme/sangue , Anemia Falciforme/etnologia , Eletroforese das Proteínas Sanguíneas , Colômbia/epidemiologia , Feminino , Hemoglobina Fetal/análise , Haplótipos/genética , Humanos , Recém-Nascido , Masculino , Triagem Neonatal , Traço Falciforme/sangue , Traço Falciforme/etnologia , Traço Falciforme/genéticaRESUMO
Introducción. La mutación de la hemoglobina S (HbS) va acompañada por otras mutaciones en la región del cromosoma 11, conocida como conjunto de la globina beta(beta globin cluster). El patrón de combinación de estos polimorfismos da lugar a los haplotipos que se heredan junto con la mutación de la hemoglobina S, se denominan haplotipos de la mutación bs y revisten gran importancia epidemiológica y clínica. Objetivo. Determinar la frecuencia de los principales haplotipos asociados al gen HBB en pacientes colombianos heterocigotos para hemoglobina S. Materiales y métodos. En la Clínica Colsanitas se han estudiado a la fecha 1.200 muestras de sangre periférica de niños en busca de hemoglobinopatías, y se ha encontrado el rasgo falciforme como la hemoglobinopatía más frecuente. Se determinaron los haplotipos del gen HBB que presentaron la mutación beta-S en 33 niños con patrón electroforético de hemoglobina AS, mediante reacción en cadena de la polimerasa (PCR) y enzimas de restricción. Se determinaron el patrón electroforético de la hemoglobina, el nivel de hemoglobina fetal y los parámetros hematológicos de cada individuo. Resultados. Los haplotipos de la hemoglobina S encontrados con mayor frecuencia en la muestra analizada son de origen africano y su orden de aparición fue mayor para el haplotipo Bantú (36,4 %), seguido por Senegal (30,3 %), Benín (21,2 %) y Camerún (12,1 %). La electroforesis de hemoglobina confirmó el fenotipo AS; la dosificación de hemoglobina fetal mostró niveles por debajo de 1 % y los parámetros hematológicos analizados mostraron valores normales en el 100 % de los individuos. Conclusión. Los haplotipos de la HbS encontrados con mayor frecuencia en la muestra estudiada eran de origen africano y su distribución variaba de acuerdo con el lugar de prodedencia del individuo. La mayor frecuencia correspodió al haplotipo Bantú.
Introduction. The hemoglobin S (HbS) mutation is accompanied by other mutations in the region of chromosome 11 known as "beta globin cluster". The pattern of combination of these polymorphisms giving rise to the haplotypes that co-inherit the HbS mutation, are called haplotypes bs, and are of great epidemiological and clinical significance. Objective. The frequencies of major haplotypes associated with S beta-globin gene was determined in Colombian patients heterozygous for hemoglobin S. Materials and methods. As part of the national neonatal screening program at Clínica Colsanitas, located in major cities of Colombia, nearly 1,200 children from different areas of the country were examined for hemoglobinopathies. The sickle cell trait was identified as the most common. S beta-globin gene haplotypes were determined by PCR and restriction enzymes in 33 children with AS hemoglobin electrophoretic patterns (carrier state). In addition, electrophoretic patterns of hemoglobin, fetal hemoglobin levels and hematologic parameters of each individual were identified. Results. The most frequent haplotypes in Colombia were the Bantú haplotype (36.4 %), followed by Senegal (30.3 %), Benin (21.2 %) and Cameroon (12.1 %) haplotypes. Hemoglobin electrophoresis confirmed the AS phenotype in all patients, and fetal hemoglobin levels below 1%. Other hematological parameters were normal in all cases. Conclusion. The HbS haplotypes found more frequently in the sample were of African origin, and their distribution varied according to the place of origin of the individual. The most frequent corresponded to the Bantu haplotype.
Assuntos
Feminino , Humanos , Recém-Nascido , Masculino , Anemia Falciforme/genética , Hemoglobina Falciforme/genética , Globinas beta/genética , África Subsaariana/etnologia , Anemia Falciforme/sangue , Anemia Falciforme/etnologia , Eletroforese das Proteínas Sanguíneas , Colômbia/epidemiologia , Hemoglobina Fetal/análise , Haplótipos/genética , Triagem Neonatal , Traço Falciforme/sangue , Traço Falciforme/etnologia , Traço Falciforme/genéticaRESUMO
El virus de papiloma humano (vph) es el principal factor de riesgo asociado al cáncer cervical, y es la causa de muerte más común por cáncer entre las mujeres en Colombia. Por tanto, crece el interés a nivel mundial y nacional por mejorar las estrategias de control y diagnóstico de la infección; incluyendo técnicas de diagnóstico molecular que identifiquen y diferencien tipos virales específicos para así tener mejor entendimiento de la dinámica del virus en la historia natural de la infección por vph. En el presente trabajo se detectó el vph en 363 pacientes diagnosticadas con lesiones asc-us o lsil en su citología, pertenecientes al programa de tamizaje de cáncer de cérvix de la eps Sanitas. Sólo a 302 de estas muestras se les pudo realizar genotipificación por Reverse Line Blot, de éstas el 20,5% (62/302 pacientes) fueron positivas para vph; los tipos virales de alto riesgo estuvieron presentes en el 82,2% y los de bajo riesgo, en el 17,8%. Por primera vez se realiza un acercamiento a la descripción de tipos virales específicos, encontrados en muestras con diagnóstico citológico de asc-us o lsil en Bogotá.
Human papillomavirus (hpv) is the principal risk factor associated with cervical cancer, the most common malignancy among women in Colombia. Therefore, a growing concern globally and nationally to improve strategies to control and diagnosis of infection, including molecular diagnostic techniques to identify and differentiate specific hpv types thus have a better understanding of the dynamics of the virus in history natural infection. In the present work was performed hpv detection and genotyping in 302 of 363 patients who normally attended the screening program of the eps Sanitas, and were subsequently diagnosed with asc-us lesions. We found hpv in 20.5% (62/302 patients) divided into 82.2% for high-risk viral types and 17.8% for low risk. For the first time was a description of specific viral types found in samples of asc-us in Bogotá.
