Incidence and Outcome of Pericardial Effusion in Pediatric Patients After Hematopoietic Stem Cell Transplant: A Single-institution Experience.

BACKGROUND: Pericardial effusion (PE) is a known complication after hematopoietic stem cell transplant (HSCT). Limited data is currently available regarding the incidence and outcomes of PE in pediatric HSCT. METHODS: We conducted a retrospective study on a cohort of patients who underwent HSCT between 2004 and 2015. Risk factors associated with development of PE were evaluated. RESULTS: In 111 HSCT, stem cell source was bone marrow in 37 (33.3%), peripheral blood-42 (37.8%) and cord blood-32 (28.8%). Incidence of PE after HSCT was 37.8%. Insignificant effusion (trivial or small) was noted in 30 (27.0%) transplants, and significant (moderate or large) PE in 12 (10.8%). There were no associations between incidence of effusion and stem cell source, graft versus host disease or CMV infection. Risk factors associated with development of PE included systemic hypertension (P<0.05), total body irradiation (P<0.05), and sinusoidal obstruction syndrome formerly known as venoocclusive disease (P=0.03). Overall mortality was 22.5% after HSCT, but 38.1% among those with effusion (P<0.05). None of these deaths were attributed to primary cardiac etiologies. CONCLUSIONS: The incidence of PE in this cohort of pediatric HSCT recipients is high and associated with higher morbidity and mortality.

Linfoma de Burkitt en un escolar con infección perinatal por VIH lentamente progresiva / Burkitt's lymphoma in a school boy with slow progression perinatally acquired HIV

Resumen Las manifestaciones clínicas en los niños con infección por el virus de la inmunodeficiencia humana (VIH) de transmisión perinatal, pueden ser de inicio precoz o tardío. El linfoma asociado a VIH es una manifestación tardía que se asocia a estadios avanzados de inmunosupresión. Se presenta el caso de un escolar de 9 años con diagnóstico de novo de infección por VIH que debutó con un linfoma de Burkitt. En niños, la frecuencia de esta asociación es de 1-2% con pocos casos reportados en la literatura médica.

Children with perinatal human immunodeficiency virus (HIV) infection can present early or late clinical disease. HIV-associated lymphoma is a later manifestation that is associated with advanced immunosuppression (acquired immunodeficiency syndrome -AIDS). This is a case of a 9-year-old boy with recent diagnosis of HIV with Burkitt's lymphoma as first clinical manifestation. In children, the frequency of this association is very low and there are few cases reported.

[Burkitt's lymphoma in a school boy with slow progression perinatally acquired HIV]. / Linfoma de Burkitt en un escolar con infección perinatal por VIH lentamente progresiva.

Children with perinatal human immunodeficiency virus (HIV) infection can present early or late clinical disease. HIV-associated lymphoma is a later manifestation that is associated with advanced immunosuppression (acquired immunodeficiency syndrome -AIDS). This is a case of a 9-year-old boy with recent diagnosis of HIV with Burkitt's lymphoma as first clinical manifestation. In children, the frequency of this association is very low and there are few cases reported.

Neonatal kaposiform hemangioendothelioma of the spleen associated with Kasabach-Merritt phenomenon.

Kaposiform hemangioendothelioma is a rare locally aggressive vascular tumor that usually manifests during early childhood. Typically the lesion presents with skin, soft tissue and bone involvement and is characterized histologically by ill-defined nodularity and the presence of spindle cells with resemblance to Kaposi's sarcoma. We report a rare neonatal case of a splenic kaposiform hemangioendothelioma associated with Kasabach-Merritt phenomenon that was diagnosed with radiographic imaging. Because of the rapid onset of thrombocytopenia and anemia, the patient required urgent splenectomy with subsequent resolution of the blood dyscrasias.

Rhabdomyosarcoma in adults: new perspectives on therapy.

OPINION STATEMENT: Rhabdomyosarcoma (RMS) is well known as a pediatric disease. Most of the knowledge, like biology, genetics, and treatments of this disease, comes from studies done in that age group. The two subtypes of RMS, embryonic RMS and alveolar RMS, that affect mainly the pediatric population are well described in the literature and that has had an impact on the improvement in overall survival during the past 20 years. RMS in the adult population has a low incidence, therefor the study of RMS in this group is challenging. Pleomorphic RMS is the subtype that mainly affects adults and its biology and genetics are not yet completely understood and described. The risk factors for this tumor and the differences among adults and children is also poorly understood. The treatments for adults that have RMS are not standardized having an impact on the overall survival. Pleomorphic RMS has, compared to other adult sarcomas, poor overall survival. Adult patients with RMS have poor prognosis. The standardization of treatments for the adult population is necessary as maybe new treatments for this specific group. There are new treatment options that are being studied mostly in pediatrics and young adults. Immunotherapy is currently proposed as an important treatment possibility including different techniques like vaccination, antigen-mediated therapy, and immune checkpoints. Even if we have a better understanding of RMS, there are still unanswered questions. The improvements seen in the pediatric population are encouraging, but there is still the need to enhance better therapies for adults with RMS.

Parasitismo intestinal en niños de círculos infantiles en un municipio / Intestinal parasitism in children from daycare centers of a municipality

Introducción: el parasitismo intestinal representa un importante problema de salud mundial por su alta prevalencia y distribución universal. Constituye una importante causa de morbilidad y mortalidad en lactantes y niños de todo el orbe. Objetivo: identificar la prevalencia de las principales especies parasitarias intestinales en círculos infantiles del municipio La Palma. Método: se realizó un estudio observacional descriptivo transversal, durante los meses de octubre y noviembre 2012, en el que se estudiaron 495 niños asistentes a los seis círculos infantiles del municipio La Palma. Fueron recolectadas por cada niño, 3 muestras fecales frescas, en días alternos, las que se procesaron con los métodos coproparasitológicos de examen directo y técnica de concentración de Ritchie- Willis. Resultados: el 48,3% de la muestra estaba parasitada, con una mayor prevalencia en el quinto año de vida (58,8%), predominó el sexo masculino (54,8%). Las especies más frecuentes fueron Giardia lamblia (38,1%), Entamoeba histolytica (30,1%) y Enterobius vermicularis (19,2%). El poliparasitismo se apreció (12,2%) de los niños, la asociación de parásitos muestra a Giardia lamblia en tres combinaciones. Junto al Enterobius vermicularis (37,2 %), con Entamoeba histolytica/E dispar (33,3 %) y los tres a la vez (29,4%). Conclusiones: aproximadamente la mitad de los niños estudiados se encontraban parasitados, estos resultados fueron más frecuentes a partir del cuarto año de vida, con una mayor prevalencia en el sexo masculino en todas las especies parasitarias, predominado las infecciones por protozoarios, con mayor frecuencia Giardia lamblia y asociaciones de parásitos en varios casos.

Introduction: intestinal parasitism is a major global health problem because of its high prevalence and universal distribution. It is an important cause of morbidity and mortality in infants and children around the world. Objective: to identify the prevalence of major intestinal parasitic species in daycare centers of La Palma. Method: an observational descriptive study was conducted during the months of October and November of 2012, in which 495 children were studied, attending the six daycare centers of La Palma Municipality. Three fresh fecal samples were collected from each child, on alternate days, and processed with direct parasitological methods and technical examination of Ritchie-Willis concentration. Results: 48.3% of the samples were parasitized, with a higher prevalence in the fifth year of life (58.8%), the male sex was the predominant one (54.8%). The most frequent species were Giardia lamblia (38.1%), Entamoeba (30.1%) and Enterobius vermicularis (19.2%). Polyparasitism was observed in 12.2% of the children, being the association of parasites Giardia lamblia shown in three combinations. Together with Enterobius vermicularis (37.2%), with histolytica Entamoeba (33.3%), and with the three of them at the same time (29.4%). Conclusions: about half of the children studied were parasitized; these results were more frequent after the fourth year of life, with a higher prevalence in male children and all parasitic species, with a predominance of protozoal infections, most often Giardia lamblia parasite associations in several cases.

Evidencia de asociación entre el gen SLC6A4 y efectos epistáticos con variantes en HTR2A en la etiología del autismo en la población antioqueña / Evidence for association and epistasis between the genetic markers SLC6A4 and HTR2A in autism etiology

Introducción. El espectro autista constituye un grupo de trastornos graves del neurodesarrollo, con un fuerte componente genético. Se ha sugerido un papel importante del sistema serotoninérgico en el desarrollo de este grupo de trastornos, con base en los estudios de respuesta a medicamentos y la hiperserotoninemia, característica común en el autismo. Se han implicado múltiples moléculas en el metabolismo y la neurotransmisión de la serotonina; sin embargo, los resultados de los estudios han tenido poca congruencia entre diferentes poblaciones. Objetivos. Evaluar la relación entre el autismo y el polimorfismo de nucleótido simple (Single Nucleotide Polymorphism, SNP) en los genes SLC6A4, HTR2A e ITGB3, en una muestra de la población antioqueña. Materiales y métodos. Se genotipificaron 42 núcleos familiares con autismo para 10 variantes en los genes SLC6A4, ITGB3 y HTR2A. Se evaluó la asociación utilizando la prueba de desequilibrio en la transmisión. Se exploró el impacto de la interacción entre estos genes y el autismo, utilizando la reducción multidimensional. Resultados. Se encontró asociación de las variantes rs4583306 (OR=2,6, p=0,004) y rs2066713 (OR=2,2 p=0,03), en el gen SLC6A4, y asociación de combinaciones genotípicas entre los genes SLC6A4 y HTR2A y el riesgo de autismo (p=0,0001). Conclusiones. Se encontró asociación significativa con variantes en el gen transportador de serotonina con el autismo, al igual que interacción entre variantes en los genes HTR2A con SLC6A4. Estos resultados concuerdan con los de estudios previos en otras poblaciones y son pruebas a favor del papel del sistema serotoninérgico en la etiología del espectro autista.

Introduction. Autism spectrum disorders are severe neurodevelopmental disorders with a strong genetic component. The potential role of the serotoninergic system in the development of autistic disorder has been based on the observation of hyperserotoninemia in autistic subjects and the results of drug treatment studies. Multiple molecules involved in serotonin metabolism and neurotransmission have been studied; however, replication studies have been inconsistent. This may be partially related to the marked genetic heterogeneity of autism in different populations. Objectives. The relationship between autism and single nucleotide polymorphisms of SLC6A4, HTR2A and ITGB3 genes was evaluated in an urban population of northwestern Colombia. Materials and methods. In Antioquia, Colombia, 42 families with history of autism were screened for 10 SNPs in SLC6A4, HTR2A and ITGB3 genes and evaluated for associations with the transmission disequilibrium test. The interactions among these genes and autism was assessed with multidimensional reduction methods. Results. A significant main effect was seen among the SLC6A4 gene variants rs4583306 (OR=2.6, p=0.004) and rs2066713 (OR=2.2, p=0.03). No main effect of the ITGB3 or HTR2A variants was found, however, in the interaction effects, the SLC6A4 and HTR2A genes demonstrated significant evidence of association with autism (p<0.001). Conclusion. Significant association of markers were discovered within the SLC6A4 gene and the combination of SLC6A4 and HTR2A (S-A) genes to autism. These results were consistent with previous studies conducted in other populations and provide further evidence for the implication of the serotoninergic system in the etiology of autistic disorders.

[Evidence for association and epistasis between the genetic markers SLC6A4 and HTR2A in autism etiology]. / Evidencia de asociación entre el gen SLC6A4 y efectos epistáticos con variantes en HTR2A en la etiología del autismo en la población antioqueña.

INTRODUCTION: Autism spectrum disorders are severe neurodevelopmental disorders with a strong genetic component. The potential role of the serotoninergic system in the development of autistic disorder has been based on the observation of hyperserotoninemia in autistic subjects and the results of drug treatment studies. Multiple molecules involved in serotonin metabolism and neurotransmission have been studied; however, replication studies have been inconsistent. This may be partially related to the marked genetic heterogeneity of autism in different populations. OBJECTIVES: The relationship between autism and single nucleotide polymorphisms of SLC6A4, HTR2A and ITGB3 genes was evaluated in an urban population of northwestern Colombia. MATERIALS AND METHODS: In Antioquia, Colombia, 42 families with history of autism were screened for 10 SNPs in SLC6A4, HTR2A and ITGB3 genes and evaluated for associations with the transmission disequilibrium test. The interactions among these genes and autism was assessed with multidimensional reduction methods. RESULTS: A significant main effect was seen among the SLC6A4 gene variants rs4583306 (OR=2.6, p=0.004) and rs2066713 (OR=2.2, p=0.03). No main effect of the ITGB3 or HTR2A variants was found, however, in the interaction effects, the SLC6A4 and HTR2A genes demonstrated significant evidence of association with autism (p<0.001). CONCLUSION: Significant association of markers were discovered within the SLC6A4 gene and the combination of SLC6A4 and HTR2A (S-A) genes to autism. These results were consistent with previous studies conducted in other populations and provide further evidence for the implication of the serotoninergic system in the etiology of autistic disorders.