Search results for "proteine"
showing 10 items of 179 documents
New Frontiers in the Treatment of Homozygous Familial Hypercholesterolemia.
2021
: Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder. The most common cause is a mutation in both alleles of the gene encoding for the low-density lipoprotein (LDL) receptor, although other causative mutations have been identified. Complications of atherosclerotic cardiovascular disease are common in these patients; therefore, reducing the elevated LDL-cholesterol burden is critical in their management. Conventionally, this is achieved by patients initiating lipid-lowering therapy, but this can present challenges in clinical practice. Fortunately, novel therapeutic strategies have enabled promising innovations in HoFH treatment. This review highlights recent and ongo…
A subgroup analysis of the ODYSSEY APPRISE study: Safety and efficacy of alirocumab in the Italian cohort.
2022
ODYSSEY APPRISE trial evaluated efficacy and safety of alirocumab in 994 patients with hypercholesterolemia and high CV risk in a real-life setting. The aim of the present report is to detail on the Italian cohort enrolled and treated in the trial.The methodology of the of the multinational, single-arm, Phase 3b open-label ODYSSEY APPRISE (Clinicaltrials.gov: NCT02476006) has been previously reported. 255 Italian patients were enrolled and treated according to the trial protocol. Overall mean exposure to alirocumab was 83.3 ± 27.7 weeks. At week 12, LDL-C decreased by 51.3 ± 23.1% and this reduction was overall maintained for the duration of the study. A similar reduction was observed in pa…
RUOLO DEL POLIMORFISMO ILE148MET DEL GENE PNPLA3 NELLA STEATOSI ASSOCIATA ALLA IPOBETALIPOPROTEINEMIA FAMILIARE
2014
Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum.
2011
Hypobetalipoproteinemias (HBL) represent a heterogeneous group of disorders characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (apoB) below the 5th percentile of the distribution in the population. HBL are defined as primary or secondary according to the underlying causes. Primary monogenic HBL are caused by mutations in several known genes (APOB, PCSK9, MTP, SARA2) or mutations in genes not yet identified. Familial hypobetalipoproteinemia (FHBL) is the most frequent monogenic form of HBL with a dominant mode of inheritance. It may be due to loss-of-function mutations in APOB or, less frequently, in PCSK9 genes.…
Valutazione in vivo dello stress ossidativo e dell'attivazione piastrinica nell'ipobetalipoproteinemia familiare: confronto con l'ipercolesterolemia …
Background Oxidative stress is associated with an increased risk of atherothrombosis and platelet activation as several animal models have been shown. The increased production of reactive oxygen species (ROS) leads to lipids peroxidation of the cell membranes and of lipoproteins, high production of F2-isoprostanes from arachidonic acid, thus modulating the platelet activation induced by thromboxane. 8-iso-PGF2a and 11-deidro-tromboxane (TX)B2 are in vivo markers of oxidative stress and platelet activation, respectively. Recently it has been shown that subjects with low plasma levels of HDL (increased cardiovascular risk) present with high urinary levels of these markers. This excretion is r…
FISIOPATOLOGIA DELLA SINTESI DELLE LIPOPROTEINE INTESTINALI
2015
La sintesi di lipoproteine di origine intestinale è un processo sequenziale, necessario per l’assorbimento dei lipidi e delle vitamine liposolubili di origine alimentare. L’assemblaggio dei chilomicroni inizia nel reticolo endoplasmico con la formazione di particelle ricche di fosfolipidi che sono poi trasportate al Golgi per essere secrete. Diverse classi di trasportatori giocano un ruolo sia nell’assorbimento selettivo che nel trasporto di lipidi attraverso i villi intestinali. Una volta secrete nel circolo linfatico, le lipoproteine ricche di trigliceridi (LRT) sono sottoposte all’azione della Lipasi Lipoproteica (LPL), che catalizza l’idrolisi dei triacilgliceroli delle lipoproteine a d…
Influenze della terapia con anti-TNF sulla concentrazione delle lipoproteine plasmatiche e sul rischio cardiovascolare nei pazienti affetti da Artrit…
2011
Indagine per la definizione di un modello statistico per lo studio della variabile "contenuto in proteine" nel frumento duro coltivato in Sicilia.
2011
A partire dal 2000 il Consorzio di Ricerca Gian Pietro Ballatore, nell'ambito del "Progetto Qualità e Tracciabilità del Grano Duro in Sicilia", ha attivato, in collaborazione con l'Assessorato delle Risorse Agricole e Alimentari della Regione Siciliana, un sistema di monitoraggio del grano duro, in modo tale da qualificarlo sulla base delle caratteristiche merceologiche, stoccarlo in maniera differenziata e rintracciarlo lungo la filiera. Nell'ambito della suddetta attività per ogni campagna granaria sono stati raccolti dati relativi alle partite di grano conferite presso i centri di stoccaggio che aderivano al progetto. In particolare sono state registrate informazioni sulla qualità merceo…
Monoclonal gammopathy of ocular significance (MGOS) – a short survey of corneal manifestations and treatment outcomes
2021
Monoclonal gammopathy of ocular significance (MGOS) is a rare subset of monoclonal gammopathy of clinical significance occurring secondary to plasma cell disorders and causing ocular manifestations. We identified 23 patients with paraproteinemic keratopathy (PPK) in the setting of monoclonal gammopathy of unknown significance (MGUS, 10), smoldering multiple myeloma (SMM, 3) or multiple myeloma (MM, 10). Many of these patients with PPK (11/23) presented decreased vision. All patients with MM and 40% of those with other diagnoses such as SMM and MGUS received systemic therapy with or without autologous stem cell transplantation. Four eyes of four patients were treated by penetrating keratopla…
Venous Thrombosis Associated with HMG-CoA Reductase Inhibitors
2013
Abstract Among the various hypolipidemic drugs, 3-hydroxy-3-methyl-glutaryl-coenzyme A (HMG-CoA) reductase inhibitors (also known as "statins") belong to a heterogeneous class of compounds, sharing an identical hypocholesterolemic effect that develops through direct inhibition of a rate-limiting step in endogenous cholesterol synthesis. Their mechanism of action entails competitive inhibition of HMG-CoA reductase. Several lines of evidence suggest that the pleiotropic effects of statins may also play a role in prevention of venous thrombosis, wherein hypercholesterolemic patients are characterized by enhanced thrombin generation, increased susceptibility to endothelial dysfunction and plate…