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1.
Pediátr. Panamá ; 52(3): 131-136, 18 de diciembre de 2023.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1523417

ABSTRACT

Se presenta el caso de una recién nacida a término valorada en el servicio de urgencias por ictericia sin criterios de fototerapia. En los controles analíticos posteriores se detecta hipertransaminasemia y dislipemia con aumento de LDL-colesterol. Tras no objetivar alteraciones en los diferentes parámetros estudiados se realiza biopsia hepática que muestra hallazgos compatibles con cirrosis. Se amplía el estudio metabólico y presenta un perfil alterado de sialotransferrinas lo que lleva a realizar un diagnóstico de defecto congénito de la glicosilación. Bajo este nombre se incluye un grupo amplio de enfermedades relacionadas con alteraciones en el proceso de unión de glicanos a las cadenas proteicas. Este defecto, de origen genético, implica cambios en la estructura y funcionalidad de las glicoproteínas. Las manifestaciones clínicas son heterogéneas, en función del gen afecto y del tipo de glicoproteínas alteradas, siendo lo más común la afectación hepática, neurológica y hematológica. (provisto por Infomedic International)


We present the case of a full-term newborn girl evaluated in the emergency department for jaundice without phototherapy criteria. Subsequent laboratory tests showed hypertransaminasemia and dyslipidemia with increased LDL-cholesterol. After finding no alterations in the different parameters studied, a liver biopsy was performed showing findings compatible with cirrhosis. The metabolic study was extended and the patient presented an altered sialotransferrin profile, which led to a diagnosis of congenital defect of glycosylation. This name includes a broad group of diseases related to alterations in the process of glycan binding to protein chains. This defect, of genetic origin, involves changes in the structure and functionality of glycoproteins. The clinical manifestations are heterogeneous, depending on the gene affected and the type of glycoproteins altered, the most common being hepatic, neurological and hematological involvement. (provided by Infomedic International)

2.
Eur J Pediatr ; 182(9): 4227-4236, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37452843

ABSTRACT

Since COVID-19 pandemic started, many changes have been seen in the cycling patterns of pediatric pathologies. On year 2020, we described the initial effects of COVID-19, with a significant decrease in emergency visits and admissions, but 2 years later the situation seems to be reversed. Our study bridges a literature gap by exploring the lasting effects of COVID-19 on pediatric non-COVID admissions, particularly the resurgence of respiratory illnesses. ECIEN-2022 is a single-center, retrospective, observational-study conducted 3 years after the pandemic onset, to describe the long-term effects of COVID-19 in pediatric admissions for non-COVID diseases. Admissions during year 2022 were compared with the Pre-Pandemic Period (PPP: 2015-2019). Pediatric Emergency Department (P-ED) visits, hospital, and Intensive Care Unit (P-ICU) admissions were compared across pre- and post-pandemic periods. Monthly distribution and year-waves are presented. P-ED monthly visits (mean and Standard deviation (SD) raised from 3521 (533) in the PPP to 3775 (996) in 2022 (p < 0.001). Monthly hospital admissions in the 3rd quarter of the Pre-Pandemic Period were 111.7/month (SD:29), dropped to 88.5(SD:6.5) in 2020 and raised to 149(SD:38.8) in 2022 (p = 0.036). An increase in respiratory illnesses was observed in 2022 compared to PPP; Bronchiolitis increased 38%, bronchitis 56%, and admissions for Respiratory Syncytial Virus 67%.  Conclusion: COVID-19 pandemic has had a significant impact on the use and nature of pediatric health services. The initial decrease has been followed by a boomerang effect with an increase of cases, mainly due to an increase in respiratory infections when pandemic control measures and social restrictions have been lifted. It is essential to maintain an active surveillance and monitorization of these patterns to ensure appropriate healthcare access and utilization. What is Known: • COVID-19 pandemic initially led to a significant decrease in emergency visits and admissions for non-COVID diseases. What is New: • ECIEN-2022 study investigated the long-term effects of COVID-19 on pediatric admissions for non-COVID diseases, detecting a "boomerang effect" with an increase in pediatric admissions for non-COVID diseases in year 2022. • Pediatric Emergency Department visits and hospital admissions for non-COVID diseases, especially those due to respiratory infections, increased significantly in 2022 when compared to the Pre-Pandemic Period.

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