45 documents found, page 1 of 5

Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Po...

The Portuguese Newborn Screening Program currently includes 28 pathologies: congenital hypothyroidism, cystic fibrosis, 24 inborn errors of metabolism, sickle cell disease and spinal muscular atrophy. This pilot study for sickle cell disease newborn screening, including 188,217 samples, was performed between May 2021 and December 2023, with phase I, including 24,130 newborns, in the Lisbon and Setubal districts...

Rastreio neonatal da fibrose quística em Portugal: etapas de uma história de su...

A Complex Case of Koolen-De Vries Syndrome Associated with Hypopituitarism and ...

Complex diseases arise from the interplay of genetic and environmental factors. We present a case where complex diseases seem to coexist. A 12-month-old girl was referred for short stature and hypotonia. Initial evaluation revealed central hypothyroidism, growth hormone deficiency and a small pituitary gland with ectopic neurohypophysis. Replacement therapy improved growth, but developmental delay and strabismu...

Association Between COVID-19 and the Incidence of Type 1 Diabetes in Portugal -...

Background: Viral respiratory infections may precipitate type 1 diabetes (T1D). A possible association between the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus responsible for COVID-19, and the incidence of T1D is being determined. This study was carried out using Portuguese registries, aiming at examining temporal trends between COVID-19 and T1D. Methods: Hospital data, comparing the...

Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin...

Objectives: Congenital Adrenal Hyperplasia (CAH) is a group of genetic diseases characterized by impaired cortisol biosynthesis. 95% of CAH cases result from muta tion in the CYP21A2 gene encoding 21-hydroxilase. TNX-B gene partially overlaps CYP21A2 and encodes a matrix protein called Tenascin-X (TNX). Complete tenascin defi ciency causes Enlers-Danlos syndrome (EDS). A mono allelic variant called CAH-X CH-1 w...

Prevalência ao nascimento da drepanocitose nos distritos de Lisboa e Setúbal: r...

As hemoglobinopatias são as doenças hereditárias mais frequentes a nível mundial e que resultam de mutações que afetam os genes responsáveis pela síntese das cadeias de globina da hemoglobina. Trata-se de uma patologia cada vez mais disseminada à escala global, e consequentemente, é cada vez maior a importância do rastreio neonatal da drepanocitose para a diminuição da morbilidade e mortalidade através de adoçã...

Maternal Glutaric aciduria type I and newborn screening

Introduction: Expanded Newborn Screening (NBS) programs based on MS/MS, result in a massive increase of screened metabolic disorders and detected patients. Alongside with the detection of classical forms of screened metabolic disorders, milder forms (many whose existence was unknown until now) are being detected, representing major challenges in respect to follow up protocols. Disease spectrum of screened disor...

Rastreio neonatal da Fibrose Quística em Portugal

O rastreio neonatal da Fibrose Quística (FQ) foi incluído no Programa Nacional de Rastreio Neonatal em dezembro de 2018, após realização de um estudo piloto nacional que incluiu 255,000 RN. Este trabalho tem como objetivo a atualização dos resultados do rastreio neonatal da FQ em Portugal. Desde outubro de 2013 já foram rastreados 517 660 RN. O algoritmo de rastreio utilizado baseia-se na determinação do IRT e ...

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...

Prematuridade e Rastreio Neonatal

Introdução: Os programas de rastreio neonatal são programas de saúde pública, com o objetivo de uma deteção precoce de recém-nascidos afetados por determinada patologia, com vista a um início atempado do tratamento, que conduza a uma diminuição da morbilidade e mortalidade. Em todo o mundo, a taxa média dos prematuros ao nascimento é estimada em cerca de 10%, tendo a evolução científica e tecnológica no campo d...