Search results for "MOLECOLARE"

SEARCH OF MUTATIONS IN CFTR GENE AND IN GENES ENCODING CFTR INTERACTORS IN PATIENTS BEARING ATYPICAL CISTIC FIBROSIS

2011

Validation of glycated albumin reference interval in healthy Caucasian pregnant women

2022

No abstract available

Documento di consenso ANMCO/ELAS/SIBioC: Raccomandazioni sull'impiego dei biomarcatori cardiaci nello scompenso cardiaco

2016

Biomarkers have dramatically impacted the way heart failure (HF) patients are evaluated and managed. A biomarker is a characteristic that is objectively measured and evaluated as an indicator of normal biological or pathogenic processes, or pharmacological responses to a therapeutic intervention. Natriuretic peptides (B-type natriuretic peptide [BNP] and N-terminal proBNP) are the gold standard biomarkers in determining the diagnosis and prognosis of HF, and a natriuretic peptide-guided HF management looks promising. In the last few years, an array of additional biomarkers has emerged, each reflecting different pathophysiological processes in the development and progression of HF: myocardia…

Elevated cerebrospinal fluid and plasma homocysteine levels in ALS

2012

Background: Numerous recent evidence suggests that homocysteine (HC), a putative risk factor for stroke and coronary artery disease [1,2], could play a role in the physiopathology of several neurodegenerative disorders, such as Alzheimer’s Parkinson’s diseases and amyotrophic lateral sclerosis (ALS) [3,4,5]. HC, an aminoacid involved in the methionine metabolism, acts as a neurotoxin through several mechanisms, including free radicals and cytosolic accumulation, mitochondrial dysfunctions, activation of apoptotic pathways, and excitotoxic aminoacid-mediated damage [5]. A recent report showed that plasma HC levels were significantly elevated in ALS, and in particular in those patients with a…

Polimorfismo I/D del gene per l'enzima di conversione dell'angiotensina (ACE): gene della longevità o fattore di rischio nella patologia ipertensiva?

2013

In recent decades, the increase in life expectancy stimulated the study of aging processes and the search for candidate genes involved in longevity. The angiotensin converting enzyme (ACE), present in all endothelial cells, plays an essential role in maintaining the homeostasis of blood flow by regulating the production of the vasoconstrictor angiotensin II and inactivating the bradykinin. Some studies reported a possible association between the polymorphism I/D of ACE gene and either hypertension and longevity. The present study was aimed to confirm these data. We studied two large cohorts of nonagenarians and centenarians. One was from Sardinia (200 subjects, 88 males, mean age: 96 years)…

Documento di consenso intersocietario ANMCO/ISS/AMD/ANCE/ARCA/FADOI/ GICR-IACPR/SICI-GISE/SIBioC/SIC/SICOA/ SID/SIF/SIMEU/SIMG/SIMI/SISA Colesterolo …

2016

Atherosclerotic cardiovascular disease still represents the leading cause of death in western countries. A wealth of scientific evidence demonstrates that increased blood cholesterol levels have a major impact on the outbreak and progression of atherosclerotic plaques. Moreover, several cholesterol-lowering pharmacological agents, including statins and ezetimibe, have proven effective in improving clinical outcomes. This document is focused on the clinical management of hypercholesterolemia and has been conceived by 16 Italian medical associations with the support of the Italian National Institute of Health. The authors have considered with particular attention the role of hypercholesterole…

Monocyte distribution width (MDW) as a reliable biomarker for urosepsis

2023

Evaluation of Alpha-Synuclein Cerebrospinal Fluid Levels in Several Neurological Disorders

2022

(1) Background: Alpha-synuclein (α-syn) is a presynaptic neuronal protein that regulates several neuronal functions. In recent decades, the role of α-syn as a biomarker of neurodegenerative diseases has been explored, especially in synucleinopathies. However, only a few studies have assessed its role as biomarker in other neurological disorders. The aim of the study was to evaluate cerebrospinal fluid (CSF) α-syn levels in several neurological disorders; (2) Methods: We measured CSF α-syn levels by a commercial ELISA kit in 158 patients classified in the following group: controls, Alzheimer’s Disease (AD), cerebrovascular diseases, inflammatory central nervous …

Experimental Medicine Reviews. Morphophysiological Remarks

2007

Optimization of a new lead promoting the readthrough of the nonsense mutations for CFTR rescue in human CF cells

2017

Optimization of a new lead promoting the readthrough of the nonsense mutations for CFTR rescue in human CF cells Laura Lentini, Raffaella Melfi, Sara Baldassano, Marco Tutone, Aldo Di Leonardo, Andrea Pace, Ivana Pibiri Department of Biological, Chemical and Pharmaceutical Sciences and Technologies (STEBICEF), University of Palermo Background and rationale Cystic Fibrosis patients with nonsense mutations in the CFTR gene have a more severe form of the disease. Nonsense mutations represent about 10% of the mutations that affect the CFTR gene and they are frequently associated to the classical F508 mutation (1). A potential treatment for this genetic alteration is to promote the translationa…