8 documents found, page 1 of 1

Intrathyroidal Ectopic Thymus: A Case Series

COVID-19 in Two Children with New-Onset Diabetes: Case Reports

Delayed diagnosis, low socioeconomic status and infection have been associated with diabetic ketoacidosis (DKA) at type 1 diabetes mellitus presentation. A teenager from a low socioeconomic status family, with longstanding weight loss, polyphagia, polyuria, vomiting and abdominal pain, attended the emergency department, also complaining of anosmia and odynophagia. He was diagnosed with COVID-19 and new-onset DK...

Children with Type 1 Diabetes of Early Age at Onset - Immune and Metabolic Phen...

Objectives We aimed to evaluate children with type 1 diabetes (T1D) with early age at onset (EAO) for clinical, immune and metabolic features in order to identify age-related disease phenotypes. Methods Comparative study of two groups of T1D children: EAO (≤5 years) and later age at onset (LAO; >5 years), regarding the presence of other autoimmune (AI) diseases, diabetes ketoacidosis and immunologic profile at ...

Immune Cell and Cytokine Patterns in Children with Type 1 Diabetes Mellitus Und...

Objective: Type 1 diabetes (T1D) develops in distinct stages, before and after disease onset. Whether the natural course translates into different immunologic patterns is still uncertain. This study aimed at identifying peripheral immune patterns at key time-points, in T1D children undergoing remission phase. Methods: Children with new-onset T1D and healthy age and gender-matched controls were recruited at a pe...

Hipomelanose de Ito: a Pele como Sinal de Alarme

Inibidores da Aromatase em Adolescentes do Sexo Masculino com Baixa Estatura Id...

Introdução: O efeito dos fármacos inibidores da aromatase (IA) na estatura de jovens do sexo masculino com baixa estatura idiopática (BEI) tem vindo a ser estudado desde que foi evidenciado o papel dos estrogénios na paragem do crescimento linear. Os ensaios clínicos aleatorizados, duplamente cegos, de caso-controlo com letrozol indicam impacto positivo na previsão de estatura final em jovens do sexo masculino ...

Mosaic Trisomy 18 in a Five-Month-Old Infant - Case Report

Individuals with mosaic trisomy 18, only approximately 5% of all trisomy 18 cases, carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome. A five month old daughter of a 38-year-old mother, with vomiting and feeding problems, was referred to our department. She was undernourished and had axial hyp...

Delecção 1p36 – A Síndrome Não Explica Tudo…

Introdução: A criança com co-morbilidade grave é um premente desafio diagnóstico, cujo sucesso depende de uma abordagem multi-disciplinar. A síndrome de delecção 1p36, microdelecção subtelomérica de apresentação clínica pleiotrópica e multissistémica, pode incluir atraso do desenvolvimento psicomotor, alterações cardíacas, neurológicas e gastrointestinais. Caso Clínico: Filha única de pais não consanguíneos, PN...