11 documents found, page 1 of 2

Association of Aquaporin-3, Aquaporin-7, NOS3 and CYBA polymorphisms with hyper...

Preeclampsia (PE), a pregnancy disorder influenced by oxidative stress and hypoxia, affects the health of the mother and baby and is associated with an increased risk of future hypertension (HT). Aquaporins are a family of water channels, comprising members that also transport glycerol (aquaglyceroporins) and hydrogen peroxide (peroxiporins), key molecules for metabolic homeostasis and redox signaling. Here, we...

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...

Associaton between anthropometric indicators of adiposity and risk factors for ...

According to the World Health Organization (WHO). Portugal remains one of the European countries with the highest rates of children and adults with overweight/obesity and it is estimated that 24% of the adult Portuguese population is obese. Dyslipidemias are the main risk factors for cardiovascular diseases, which are the leading cause of death in developed countries. Numerous studies have been conducted to est...

Association between bilirubin and lipid profile  in Portuguese elderly individuals

Several studies showed that mildly elevated bilirubin blood concentration is inversely associated with coronary artery disease (CAD). The most commonly mechanism contributing to CAD prevention is the bilirubin antioxidant effect, protecting several macromolecules from oxidation. Recently, other studies have found that higher serum bilirubin levels (BL) are associated with beneficial effects improving lipid prof...

Association between bilirubin and lipid profile in Portuguese elderly individuals

Several studies showed that mildly elevated bilirubin blood concentration is inversely associated to coronary artery disease (CAD). The most commonly mechanism contributing to CAD prevention is the bilirubin antioxidant effect, protecting several macromolecules from oxidation. Recently, other studies have found that higher serum bilirubin levels (BL) are associated with beneficial effects improving lipid profil...

First trimester aneuploidy screening program for preeclampsia prediction in a p...

Protein deficiency balance as a predictor of clinical outcome in hereditary sph...

Vertical and horizontal interactions between membrane constituents account for integrity, strength and deformability of the erythrocyte. Disruption of vertical interactions caused by membrane protein deficiencies in hereditary spherocytosis (HS), favor membrane vesiculation with development of spherocytic cells. Our aim was to evaluate the hematological and clinical presentation of HS according to the type and ...

Dislipidemia and oxidative stress in mild and in severe psoriasis as a risk for...

Psoriasis is a common chronic and recurrent inflammatory skin disorder that has been associated with oxidative stress, abnormal plasma lipid metabolism and with high frequency of cardiovascular events. This prevalence seems to be related to the severity of psoriasis, as it occurs more frequently in patients presenting large areas of the body affected with psoriasis lesions. The aim of our work was to evaluate t...

Hematological and biochemical parameters in hereditary spherocytosis under oxid...