721 research outputs found
Genetic, biochemical, and clinical features of LCAT deficiency: update for 2020
No full textPURPOSE OF REVIEW: Genetic LCAT deficiency is a rare metabolic disorder characterized by low-plasma HDL cholesterol levels. Clinical manifestations of the disease include corneal opacification, anemia, and renal disease, which represents the major cause of morbidity and mortality in carriers. RECENT FINDINGS: Biochemical and clinical manifestations of the disease are very heterogeneous among carriers. The collection of large series of affected individuals is needed to answer various open questions on this rare disorder of lipid metabolism, such as the cause of renal damage in patients with complete LCAT deficiency and the cardiovascular risk in carriers of different LCAT gene mutations. SUMMARY: Familial LCAT deficiency is a rare disease, with serious clinical manifestations, which can occur in the first decades of life, and presently with no cure. The timely diagnosis in carriers, together with the identification of disease biomarkers able to predict the evolution of clinical manifestations, would be of great help in the identification of carriers to address to future available therapies
Considering gender in prescribing statins : what do physicians need to know?
No full textNumerous clinical studies with objectives such as mortality and morbidity of cardiovascular (CV) have reported the benefit of treatment for dyslipidemia with lipid-lowering therapy, in particular using the statins. But the trials conducted in past years did not consider the gender differences of statin effect, because women were poorly represented. All the results in terms of response, efficacy, reduction of LDL cholesterol and CV risk in primary and secondary prevention refer to men. In these recent years, it emerges the need to consider the different lipoprotein profile during lifetime and CV risk between men and women. Furthermore it is necessary to consider that, in patients with coronary artery disease, the lipid goal achieved is different between the two genders. Finally, we have to evaluate the side effects mostly present in women. In conclusion, there is a different prescription of these treatments in particular in the dosage used, that it is insufficient in women with cardiovascular disease. More recently it has emerged the exigency to use new guidelines that clearly indicate how should be the medical care, therefore, the specific way to treat men and women
HDL and chronic kidney disease
No full textLow HDL-cholesterol (HDL-C) concentrations are a typical trait of the dyslipidemia associated with chronic kidney disease (CKD). In this condition, plasma HDLs are characterized by alterations in structure and function, and these particles can lose their atheroprotective functions, e.g., the ability to promote cholesterol efflux from peripheral cells, anti-oxidant and anti-inflammatory proprieties and they can even become dysfunctional, i.e., exactly damaging. The reduction in plasma HDL-C levels appears to be the only lipid alteration clearly linked to the progression of renal disease in CKD patients. The association between the HDL system and CKD development and progression is also supported by the presence of genetic kidney alterations linked to HDL metabolism, including mutations in the APOA1, APOE, APOL and LCAT genes. Among these, renal disease associated with LCAT deficiency is well characterized and lipid abnormalities detected in LCAT deficiency carriers mirror the ones observed in CKD patients, being present also in acquired LCAT deficiency. This review summarizes the major alterations in HDL structure and function in CKD and how genetic alterations in HDL metabolism can be linked to kidney dysfunction. Finally, the possibility of targeting the HDL system as possible strategy to slow CKD progression is reviewed
High-Density Lipoprotein, Lecithin: Cholesterol Acyltransferase, and Atherosclerosis
No full textEpidemiological data clearly show the existence of a strong inverse correlation between plasma high-density lipoprotein cholesterol (HDL-C) concentrations and the incidence of coronary heart disease. This relation is explained by a number of atheroprotective properties of HDL, first of all the ability to promote macrophage cholesterol transport. HDL are highly heterogeneous and are continuously remodeled in plasma thanks to the action of a number of proteins and enzymes. Among them, lecithin:cholesterol acyltransferase (LCAT) plays a crucial role, being the only enzyme able to esterify cholesterol within lipoproteins. LCAT is synthetized by the liver and it has been thought to play a major role in reverse cholesterol transport and in atheroprotection. However, data from animal studies, as well as human studies, have shown contradictory results. Increased LCAT concentrations are associated with increased HDL-C levels but not necessarily with atheroprotection. On the other side, decreased LCAT concentration and activity are associated with decreased HDL-C levels but not with increased atherosclerosis. These contradictory results confirm that HDL-C levels per se do not represent the functionality of the HDL system
Methodological aspects in the experimental measurement of the interface friction between geosynthetics.
No full textAbstractThe evaluation of the interface friction at the contact between geosynthetics is a very important feature in a safe design of landfills and similar earth structures. Coupling different geosynthetics to fulfil multiple functions may be a critical point, due to the low frictional properties of such products. As a consequence, the assessment of the degree of safety of earth structures including geosynthetics requires a characterization of the interface strength and of its evolution with displacements. Some results obtained at the University of Padua will be presented with reference to experimental measurements of the interface friction between geosynthetics, in different conditions, to highlight the complexity of the friction phenomena and their dependence on experimental conditions
“Le implicazioni politiche di un terreno lungo: la missione etnologica italiana in Ghana (1954-2006)”
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