The goal of this work was to examine whether elevated iodine intake was associated with adverse effects on IQ among school-age children in Portugal. In a representative sample of children from the north of the country, IQ percentiles by age (assessed with Raven’s Colored Progressive Matrices) were dichotomized to <50 (“below-average” IQs) and ≥50. Morning urine iodine concentrations, corrected for creatinine, w...
The goal of this work was to examine whether elevated iodine intake was associated with adverse effects on IQ among school-age children in Portugal. In a representative sample of children from the north of the country, IQ percentiles by age (assessed with Raven’s Colored Progressive Matrices) were dichotomized to <50 (“below-average” IQs) and ≥50. Morning urine iodine concentrations, corrected for creatinine, w...
Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder of lipoprotein metabolism. It is characterized by marked elevation of triglyceride and chylomicron levels, lipaemic plasma, recurrent pancreatitis, eruptive xanthoma, hepatosplenomegaly, andliapemiaretinalis. All genes associated with FCS (LPL, APOC2, APOA5, LMF1 and GPHBP1) have an effect on the activity of lipoprotein lipase (LPL)....
INTRODUCTION: In the last years, evidence has started to emerge on the presence of cardiometabolic differences between genders before puberty. This study aims to evaluate if the association between obesity and markers of cardiovascular risk is different between genders in 8 to 9-year-olds. METHODS: Cross sectional study of 315 children (167 boys) aged 8-9 years old, followed in the birth cohort Generation XXI (...
Introduction: Intrauterine exposure to abuse substances is a growing public health problem, with opiates being the most frequent cause of neonatal abstinence syndrome (NAS). The purpose of this study was to report the prevalence, compare national practices of diagnosis, treatment and follow-up of newborns with chronic fetal opiate exposure. Material and methods: Anonymous online questionnaire was sent to 43 pub...
Aim: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder of lipoprotein metabolism. It is characterized by marked elevation of triglyceride and chylomicron levels, lipaemic plasma, recurrent pancreatitis, eruptive xanthoma, hepatosplenomegaly, and liapemia retinalis. All genes associated with FCS (LPL, APOC2, APOA5, LMF1 and GPHBP1) have an effect on the activity of lipoprotein lipase...
A síndrome de quilomicronemia familiar (FCS) é uma doença rara, com hereditariedade recessiva, envolvendo o metabolismo das lipoproteínas. Carateriza-se por um aumento acentuado dos triglicéridos (TGs) e quilomicras no plasma. Os doentes apresentam plasma lipémico, pancreatite recorrente, xantomas eruptivos, hepatoesplenomegalia e lipemia retiniana. O presente estudo tem como objetivo a caraterização molecular ...
A dislipidemia é um distúrbio do perfil lipídico, seja por elevação ou diminuição de uma ou mais partículas lipídicas. O objetivo deste trabalho é fazer uma revisão das causas moleculares de hipolipidemias e suas consequências clínicas. São também apresentados casos com hipolipidemias raras já estudados, ou com estudo em curso no laboratório do INSA, apresentando os dados clínicos e moleculares mais relevantes....
Dyslipidaemia is a disorder of lipid metabolism, characterized by either an increase or decrease in lipid particles, usually associated with triglycerides (TGs), LDL cholesterol (LDL-C) or HDL cholesterol (HDL-C). Most hyperlipidemia and HDL deficiency confer an increased cardiovascular risk while hypolipidemia, such as abeta or hypobetalipoproteinemia, may present different manifestations ranging from poor wei...
The World Health Organization promotes salt iodisation to control iodine deficiency. In Portugal, the use of iodised salt in school canteens has been mandatory since 2013. The present study aimed to evaluate iodine status in school-aged children (6-12 years) and to monitor the use of iodised salt in school canteens. A total of 2018 participants were randomly selected to participate in a cross-sectional survey i...