20 documents found, page 1 of 2

Higher Metabolic Dysfunction in Adolescents Who Were Born Very Preterm: Case Co...

Introduction: Literature has shown an increase in cardiovascular risk and metabolic changes in adolescents and young adults who were born preterm. In this regard, the present study aimed to assess metabolic dysfunction in adolescents who were born at less than 32 weeks of gestational age. Methods: This case-control study was performed on adolescents within the age range of 10-17 years and born in a level III ma...

COVID-19 Pandemic Impact on Metabolic Control of Type 1 Diabetes in Children

Introduction: Coronavirus disease 2019 pandemic has led to the adoption of extreme public health measures worldwide, and many governments imposed lockdown policies during the pandemic. In Portugal, the first emergency state began in March 2020 which led to the closure of schools and gyms, depriving children of all physical activities. This study aimed to evaluate the lockdown impact on metabolic control of chil...

Socioeconomic impact of waste over the lifetime of project LIFEPAYT

Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and H...

Maturity-onset diabetes of the young (MODY) is a frequently misdiagnosed type of diabetes, which is characterized by early onset, autosomal dominant inheritance, and absence of insulin dependence. The most frequent subtypes are due to mutations of the GCK (MODY 2), HNF1A (MODY 3), and HNF4A (MODY 1) genes. We undertook the first multicenter genetic study of MODY in the Portuguese population. The GCK, HNF1A, and...

Neonates Born to Mothers with Graves’ Disease: 15 Year Experience of a Pediatri...

Introduction: Graves disease is characterized by the existence of autoantibodies directed to the thyrotropin receptor, which can have a stimulatory/inhibitory action, in women with the condition, their fetus or neonate. Our aim was to review the case series of these neonates in order to establish neonatal thyroid function predictors.Material and Methods: Retrospective cohort study of the database of the Departm...

Socioeconomic baseline on waste for households in Aveiro, Portugal

Growth recovery in acquired hypothyroidism presenting with height velocity decr...

Introduction: Hypothyroidism is a frequent endocrinopathy in pediatrics. In severe cases, the most prevalent clinical manifestation is the decline in height velocity. The objective of this study was to evaluate height recovery after treatment, in children with primary acquired hypothyroidism associated with decline in linear growth. Methods: Analytical cross-sectional retrospective study. Sample was constituted...

Revisão dos Casos de MEN2A numa População Pediátrica

Introdução: As neoplasias endócrinas múltiplas do tipo 2A consistem na tríade carcinoma medular da tiroide, feocromocitoma e hiperplasia das paratiroides. Os testes genéticos constituem uma ferramenta importante na deteção e seguimento destes doentes. Este estudo tem por objetivo descrever a experiência dos autores no seguimento de crianças diagnosticadas com neoplasias endócrinas múltiplas do tipo 2A. Métodos:...

Congenital adrenal hyperplasia in paediatric age: molecular analysis of the CYP...

Introduction: Congenital adrenal hyperplasia(CAH) is due to 21-hidroxilase deficiency(21-OHD) in about 95% of the cases. 21-OH is encoded by CYP21A2 gene, and most frequent mutations occurring in CYP21A2 are due to gene conversions originated from its pseudogene(CYP21A1P). The clinical severity of CAH is associated with the impairment of 21-OH activity, which is directly related with the molecular defect. CAH i...

Espectro de alterações moleculares detetadas no gene CYP21A2 associadas a defic...

A maioria dos doentes com hiperplasia suprarrenal congénita (HSC) apresenta alterações moleculares no gene CYP21A2, o qual codifica a enzima 21-hidroxilase (21-OH). Os doentes com a forma clássica de deficiência em 21-OH (21-OHD) apresentam a síntese de cortisol diminuída no córtex adrenal e, os casos mais graves, também apresentam deficiência de aldosterona. As mulheres com 21-OHD grave apresentam excesso de a...