20 documents found, page 1 of 2

Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients

The lysosome has a key role in the presentation of lipid antigens by CD1 molecules. While defects in lipid antigen presentation and in invariant Natural Killer T (iNKT) cell response were detected in several mouse models of lysosomal storage diseases (LSD), the impact of lysosomal engorgement in human lipid antigen presentation is poorly characterized. Here, we analyzed the capacity of monocyte-derived dendriti...

Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers an...

Mutational analysis and genotype-phenotype relation in familial hypercholestero...

Background and aims: Familial hypercholesterolemia (FH) is an autosomal dominant disease of cholesterol metabolism that confers an increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Therefore, early identification and treatment of these patients can improve prognosis and reduce the burden of cardiovascular mortality. The aim of this work was to perform the mutational analysis of the SAF...

[Is it Fabry Disease? Diagnostic and Follow-Up Approach]

Looks Like FH But it’s not FH: Extended Lipid Profile of Paediatric Clinical FH...

Aim: Familial Hypercholesterolemia (FH) is a common autosomal dominant disorder, caused by mutations in genes involved in cholesterol’s clearance (LDLR, APOB, PCSK 9). Clinical diagnosis is usually based on high total cholesterol or LDL-C levels and family history of premature coronary heart disease. Using an extended lipid profile of paediatric dyslipidemic patients, we aim to identify biomarkers for a better ...

Overhydration prevalence in peritoneal dialysis - A 2 year longitudinal analysis

Hypervolemia is a major concern in dialysis patients, and is associated with increased cardiovascular risk and death. Cross sectional analysis have previously demonstrated that peritoneal dialysis (PD) patients are not more overhydrated when compared to haemodialysiś ones. This study was designed to evaluate longitudinal trends in hydration status and corporal composition in a PD population.

Effects of manipulations of player numbers vs field dimensions on inter-individ...

The relative space per player formulated in small-sided and conditioned games can be manipulated either by promoting variations in player numbers or by modifying field dimensions. In this study we analysed how the same relative spaces per player, obtained through manipulations of player numbers and field dimensions, influenced inter-individual coordination. The positional data (GPS, 10 Hz) of 24 U-15 yrs perfor...

Smoking behaviour trends among Portuguese physicians: are they role models? A c...

ApoB/ApoA1 ratio improves clinical criteria sensitivity for the identification ...

Patterns of adherence to and compliance with the Portuguese smoke-free law in t...

Background: In 2008, the Portuguese smoke-free law came into effect including partial bans in the leisure-hospitality (LH) sector. The objective of the study is to assess the prevalence of smoking control policies (total ban, smoking permission and designated smoking areas) adopted by the LH sector in Portugal. The levels of noncompliance with each policy are investigated as well as the main factors associated ...