Publications by authors named "Carlos Del Aguila Villar"

Introduction: Information regarding children with Down syndrome (DS) in the Pediatric Intensive Care Unit (PICU) is limited and conflicting. We aimed to investigate the association between DS and clinical outcomes in pediatric patients admitted to the PICU at the Instituto Nacional de Salud del Niño (National Institute for Child Health, INSN for the acronym in Spanish) and to assess nutritional status within the study cohort.

Methods: This study involved the secondary analysis of a database.

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This article reports the trends in BMI score (-BMI) and their correlation with insulin dose and A1C in children with new-onset type 1 diabetes from several Latin American centers. The researchers observed a significant increase in the -BMI from type 1 diabetes onset through the 3-year follow-up, with insulin dose as a significant covariate. Although insulin doses steadily increased, their impact on A1C did not appear to be optimal (mean A1C 8.

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Objectives: Congenital hyperinsulinism (HI) is a heterogeneous clinical disorder with great variability in its clinical phenotype, and to date, pathogenic variants in 23 genes have been recognized.  Hyperinsulinism-hyperammonemia syndrome (HI/HA) is the second most frequent cause of this disease that shows an autosomal dominant pattern and is caused by an activating mutation of the gene, which responds favorably to the use of diazoxide. HI/HA syndrome presents with fasting hypoglycemia; postprandial hypoglycemia, especially in those with a high protein content (leucine); and persistent mild hyperammonemia.

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To measure the changes in the number of medical visits and the number of hemoglobin A1c (HbA1c) determinations according to telemedicine access in children with type 1 diabetes (T1DM) during the pandemic 2020 compared with 2019 and 2018. This is a multinational study of children with T1DM from four Latin American countries. The number of medical visits, the number of HbA1c determinations, and access to telemedicine during 2020 were extracted from their records.

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Introduction: Congenital hypothyroidism (CH) is the most common cause of preventable intellectual disability in the pediatric population. Early diagnosis and treatment during the first month of life are essential to avoid delaying the neuropsychological development of these patients.

Objective: to describe the social, cognitive, and psychomotor development of children with CH treated at the National Institute of Child Health (INSN) in Lima, Peru.

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Schimmelpenning-Feuerstein-Mims syndrome (SFM), an epidermal nevus syndrome characterized by skin lesions, has an estimated incidence of 1 per 10 000 live births. Nevus sebaceous, the most common cutaneous lesion, and verrucous nevus, the less frequent lesion, are coupled with a wide range of extracutaneous manifestations. As part of these manifestations, rarely, central precocious puberty can arise.

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Congenital generalized lipodystrophy (CGL) is an autosomal recessive rare disease, with a worldwide prevalence of around 1 in every 12 million people. There are several case reports of patients with CGL in Piura, a region in northern Peru; however its regional prevalence is unknown. The objective was to determine the prevalence of CGL in the region of Piura, Peru during the years 2000-2017.

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A case is reported of a 7 year old patient with progressive dyspnea and genital development according to Marshall and Tanner criteria at the G2 VP3 stage. A mass of regular and well-defined borders was found in the chest, with calcifications and cystic areas of heterogeneous content. Basal measurements of FSH, LH and testosterone were <10 mIU/mL, 12.

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