Introdução: A síndrome de Turner caracteriza-se pela ausência, parcial ou total, de um cromossoma X no sexo feminino, sendo uma das cromossomopatias mais frequentes. O diagnóstico é realizado através do cariótipo e as suas manifestações incluem o hipogonadismo primário, antes ou após a puberdade (disgenesia gonadal). O grau de disfunção e a extensão dos defeitos gonadais são variáveis.Objectivos: Pretendeu-se a...
Food-grade galacto-oligosaccharides (GOS) are commercially available as transparent syrups or dried powders. Food powders can be found in an amorphous metastable state which is very sensitive to changes in temperature and moisture content. In this work the impact of water content on thermal behavior and relative humidity on water sorption behavior of amorphous GOS powders were studied. Results from differential...
The vitamin D receptor (VDR) gene is a candidate gene for susceptibility to autoimmune disorders. Association studies of VDR polymorphisms and risk of type 1 diabetes often produced conflicting results in different ethnic backgrounds. The aim of this study was to test for association between common VDR polymorphisms and the genetic susceptibility to type 1 diabetes in the Portuguese population. We genotyped 207...
A series of newly hydrophobically modified polymers (dexC16) with different degrees of substitution (DSC16) have been synthesized. They can self-assemble to form micelle-like aggregates through association of the hydrophobic alkyl chains in aqueous solution. The self-aggregation processes, i.e. the critical micelle concentrations (cmc's) of the polymers were characterized by steady-state fluorescence. Further, ...
A novel pathway of molinate mineralization promoted by a defined mixed culture composed of five bacteria (named ON1 to ON5) was proposed previously. Evidence was obtained of a metabolic association between Gulosibacter molinativorax ON4T, capable of molinate breakdown, and the remaining bacteria. In the present study, the role of each isolate in that metabolic association was further explored and the possible s...
To assess in diabetic nephropathy, the accuracy of estimated creatinine clearance (calculated with the Cockroft Gault formula) and the clearance of the Tc99m-DTPA, to measure the glomerular filtration rate (GFR).We analysed the GFR measure by Tc99m-DTPA method and the estimated by the Cockroft Gault formula, in 21 subjects with type 1 or type 2 diabetes.There was a strong positive correlation between the two me...
Thyroid Lymphomas are rare tumors among thyroid neoplasms. Almost all types originate from B cells and the most frequent subtype is a diffuse large cell lymphoma. The majority arise in a background of Hashimoto's thyroiditis and patients present with a thyroid mass, rapidly enlarging and with pressure symptoms. The treatment depends on the histological subtype and stage of the disease but include radiotherapy a...
The contributions of hepatic glycogenolysis to fasting glucose production and direct pathway to hepatic glycogen synthesis were quantified in eight type 1 diabetic patients and nine healthy control subjects by ingestion of (2)H(2)O and acetaminophen before breakfast followed by analysis of urinary water and acetaminophen glucuronide. After overnight fasting, enrichment of glucuronide position 5 relative to body...
The contribution of gluconeogenesis to fasting glucose production was determined by a simple measurement of urinary menthol glucuronide (MG) 2H enrichment from 2H2O. Following ingestion of 2H2O (0.5% body water) during an overnight fast and a pharmacological dose (400 mg) of a commercial peppermint oil preparation the next morning, 364 mumol MG was quantitatively recovered from a 2-h urine collection by ether e...
GH deficiency (GHD) is associated with a higher risk of vascular disease, whose pathophysiological mechanisms remains not yet fully elucidated. This study aimed to assess the main cardiovascular risk indexes, plasma catecholamines content, and the platelet function in childhood-onset GHD patients. Some of the main clinical examinations related with cardiovascular risk, plasma catecholamines content, as well as ...
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