Background Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediatric lysosomal storage disorders characterized by the intracellular accumulation of autofluorescent material (known as lipofuscin), progressive neurodegeneration, and neurological symptoms. In 2002, a disease-causing NCL mutation in the CLN6 gene was identified (c.214G > T) in the Costa Rican population, but the frequency of this mutation among local Batten disease patients remains incompletely characterized, as do clinical and demographic attributes for this rare patient population. Objective To describe the main sociodemographic and clinical characteristics of patients with a clinical diagnosis for Batten Disease treated at the National Children's Hospital in Costa Rica and to characterize via molecular testing their causative mutations. Methods DNA extracted from buccal swabs was used for CLN6 gene sequencing. Participants’ sociodemographic and clinical characteristics were also obtained from their medical records. Results Nine patients with a clinical diagnosis of Batten disease were identified. Genetic sequencing determined the presence of the previously described Costa Rican homozygous mutation in 8 of 9 cases. One patient did not have mutations in the CLN6 gene. In all cases where the Costa Rican CLN6 mutation was present, it was accompanied by a substitution in intron 2. Patients were born in 4 of the 7 Costa Rican provinces, with an average onset of symptoms close to 4 years of age. No parental consanguinity was present in pedigrees. Initial clinical manifestations varied between patients but generally included: gait disturbances, language problems, visual impairment, seizures and psychomotor regression. Cortical and cerebellar atrophy was a constant finding when neuroimaging was performed. Seizure medication was a common element of treatment regimens. Conclusions This investigation supports that the previously characterized c.214G > T mutation is the most common causative NCL mutation in the Costa Rican population. This mutation is geographically widespread among Costa Rican NCL patients and yields a clinical presentation similar to that observed for CLN6 NCL patients in other geographies.
COVID-19 is a disease caused by the novel Coronavirus SARS-CoV-2 causing an acute respiratory disease that can eventually lead to severe acute respiratory syndrome (SARS). An exacerbated inflammatory response is characteristic of SARS-CoV-2 infection, which leads to a cytokine release syndrome also known as cytokine storm associated with the severity of the disease. Considering the importance of this event in the immunopathology of COVID-19, this study analyses cytokine levels of hospitalized patients to identify cytokine profiles associated with severity and mortality. Using a machine learning approach, 3 clusters of COVID-19 hospitalized patients were created based on their cytokine profile. Significant differences in the mortality rate were found among the clusters, associated to different CXCL10/IL-38 ratio. The balance of a CXCL10 induced inflammation with an appropriate immune regulation mediated by the anti-inflammatory cytokine IL-38 appears to generate the adequate immune context to overrule SARS-CoV-2 infection without creating a harmful inflammatory reaction. This study supports the concept that analyzing a single cytokine is insufficient to determine the outcome of a complex disease such as COVID-19, and different strategies incorporating bioinformatic analyses considering a broader immune profile represent a more robust alternative to predict the outcome of hospitalized patients with SARS-CoV-2 infection.
La creciente incidencia de diabetes mellitus tipo 1 y tipo 2, así como la inefectividad de la terapéutica actual en pacientes de difícil control, ha llevado a la necesidad de ampliar la disponibilidad de opciones de tratamiento para este sector poblacional, buscando novedosos tratamientos que brinden resultados a corto y mediano plazo y un menor número de complicaciones secundarias. Es por esto por lo que a través de la historia se han desarrollado múltiples intentos de trasplantar el órgano encargado de contrarrestar los elevados niveles de glucosa en sangre provocados por este padecimiento. Hoy en día existe una gran cantidad de literatura que demuestra la ventaja del trasplante de páncreas en comparación con otras opciones de tratamiento en pacientes con diabetes complicada y / o enfermedad renal en etapa terminal. La siguiente revisión proporciona una exploración del trasplante de páncreas desde su inicio dando a conocer los pioneros en la técnica, su desarrollo durante el tiempo, hasta la actualidad y una vista general sobre los tipos de trasplante pancreático, sus diversas indicaciones, así como técnicas innovadoras, la inmunosupresión actualmente utilizada; las principales y más frecuentes complicaciones observadas durante este procedimiento y una proyección al futuro del trasplante de páncreas en el tratamiento de la diabetes mellitus. Palabras clave: Trasplante de páncreas; trasplante de islotes pancreáticos; diabetes mellitus tipo 1; diabetes mellitus tipo 2; intervención quirúrgica. Fuente: DeCS/MeSH.
Presente mayoritariamente en el sexo masculino y con diagnóstico durante la quinta década de vida, el hepatocarcinoma constituye la malignidad hepática más frecuente y de mayor mortalidad. Su desarrollo se relaciona con la presencia de infecciones por virus de Hepatitis B y C, el consumo de alcohol y la prevalencia de enfermedades metabólicas. La presente investigación tuvo como objetivo describir la incidencia de la patología, la seroprevalencia de Hepatitis, el compromiso hepático al diagnóstico y la supervivencia global en los principales hospitales de la Seguridad Social de Costa Rica, a partir de registros médicos. Se identificó un total de 518 pacientes con diagnóstico de hepatocarcinoma, una frecuencia de 52 diagnósticos nuevos por año y una incidencia de 1,21 casos por cada 100 000 habitantes. Los diagnósticos se realizaron, principalmente, mediante biopsia y presentaron una edad media de 64,2 años. La patología presentó una distribución predominante en el sexo masculino y una prevalencia de Hepatitis B y C de 15,4% y 5,3%, sin asociación según sexo. El 55,9% de los casos presentaron un Child-Pugh clase A al diagnóstico y la supervivencia global a los 5 años fue 19, 5%. La población analizada muestra un comportamiento similar a lo reportado mundialmente. La diferencia en la edad de diagnóstico con respecto a países occidentales podría relacionarse a una identificación más temprana en dichas poblaciones. Asimismo, la baja prevalencia de Hepatitis reportada respondería a la ubicación geográfica en una zona no endémica, así como la presencia de programas de vacunación, específicamente, para Hepatitis B. Palabras clave: Carcinoma hepatocelular, Anticuerpos Antihepatitis, Análisis de Supervivencia, Seguridad Social, Costa Rica. Fuente:DeCS/MeSH.
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