En recién nacidos con falla respiratoria y enfermedad pulmonar intersticial se debe realizar el abor- daje del Síndrome chILD (children’s Interstitial Lung Disease) descartando alteraciones del metabo- lismo del surfactante y el síndrome cerebro-pilmón-tiroides que se produce por variantes patogé- nicas en el gen NKX2-1. Objetivo: Presentar el caso clínico de un paciente con clínica de síndrome chILD, y estudio genético que informa una gran deleción a nivel del cromosoma 14q12-q21.1. Caso Clínico: Paciente que presenta falla respiratoria al nacimiento, síndrome CHILD e hipotiroidismo, por lo que se sospechó síndrome cerebro-pulmón-tiroides. Presentó además convulsiones y malformaciones menores y mayores al examen físico. Su estudio genético evidenció una deleción a nivel de cromosoma 14q12-q21.1 de 14.7 Mb incluido el gen NKX2-1. Conclusión: El síndrome cerebro- pulmón-tiroides se debe considerar en recién nacidos con síndrome de dificultad respiratoria y en- fermedad pulmonar difusa (síndrome chILD), especialmente si presenta hipotonía, coreoatetosis o hipotiroidismo. El diagnóstico definitivo requiere análisis genético, más aún cuando se evidencian otras anomalías no explicadas por el síndrome sospechado
To conduct cost-utility and budget impact analysis of providing Continuous Positive Airway Pressure (CPAP) therapy versus no treatment for moderate to severe obstructive sleep apnea (OSA) in Colomb...
20 March 2022 in Expert Review of Respiratory Medicine
Obstructive sleep apnea (OSA) is the most common form of sleep-disordered breathing in children occurring in approximately 1% to 5% of the pediatric population [1]. OSA is characterized by repetiti...
Introduction. During the SARS-CoV-2 pandemic, many countries experienced decreased respiratory virus circulation, followed by an out-of-season outbreak. In a pediatric hospital in Colombia, we observed a surge in severe adenovirus infections, leading to concerns about the impact of eased public health restrictions and immune debt in children under five years old.Objective. To describe the clinical characteristics of patients with severe adenovirus infection in a pediatric hospital in Colombia.Materials and methods. We reviewed the data of 227 patients with severe adenovirus infection at the Fundación Hospital Pediátrico La Misericordia.Results. A total of 196 patients were included in this study. The median age was two years, and 62% were male. Adenoviruses were isolated from all patients’ samples. Ninetyseven percent were admitted to the pediatric intensive care unit, 94% required respiratory support, and the in-hospital lethality rate was 11%.Conclusion. In 2022, there was an outbreak of severe adenovirus infections, affecting mainly children under five years of age, with higher-than-usual mortality.