Search results for "Clero"

Nusinersen in adult patients with 5q spinal muscular atrophy: a multicenter observational cohorts’ study

2021

ABSTRACTObjectiveTo assess safety and efficacy of nusinersen in adult 5q spinal muscular atrophy (SMA) patients.MethodsPatients older than 15 years and followed at least for 6 months with one motor scale (Hammersmith Functional Motor Scale Expanded, HFMSE; Revised Upper Limb module, RULM) in five referral centers were included. Clinical and patients’ global impression of change (CGI-C and PGI-C) were recorded in treated patients at the last visit. Functional scales (Egen Klassification, EK2; Revised Amyotrophic Lateral Sclerosis Functional Rating Scale, ALSFRS-R) and the percent-predicted forced vital capacity were collected when available.ResultsSeventy-nine SMA patients (39 treated with n…

Contribution of vitamin A to the oxidation resistance of human low density lipoproteins.

1995

This study investigated the antioxidant contribution of vitamin A in protecting human low density lipoprotein (LDL) against copper-stimulated oxidation. The presence of small amounts of retinol (0.033 ± 0.012 nmol/mol LDL) and retinyl palmitate (0.036 ± 0.021 nmol/mol LDL) was routinely ascertained in the LDL. A single oral supplementation with 20,000 IU vitamin A caused a two- to three-fold increase of retinol and retinyl palmitate in the LDL isolated 8 h after the supplementation. In comparison to autologous-control LDL, vitamin A-enriched LDL were more resistant to oxidation, as expressed both by a clear delay in the onset of lipid peroxidation and by a reduction of the rate of conjugate…

Foxp3 and gata3 polymorphisms, vitamin d3 and multiple sclerosis

2021

Background: Regulatory T cells (Tregs) alterations have been implicated in the pathogenesis of Multiple Sclerosis (MS). Recently, a crucial role of the X-Linked Forkhead Box P3 (FoxP3) for the development and the stability of Tregs has emerged, and FOXP3 gene polymorphisms have been associated with the susceptibility to autoimmune diseases. The expression of Foxp3 in Tregs is regulated by the transcription factor GATA binding-protein 3 (GATA3) and vitamin D3. The aim of this retrospective case-control study was to investigate the potential association between FOXP3 and GATA3 genetic variants, Vitamin D3, and MS risk. Methods: We analyzed two polymorphisms in the FOXP3 gene (rs3761547 and rs…

Vascular oxidative stress, nitric oxide and atherosclerosis.

2014

In the vascular wall, reactive oxygen species (ROS) are produced by several enzyme systems including NADPH oxidase, xanthine oxidase, uncoupled endothelial nitric oxide synthase (eNOS) and the mitochondrial electron transport chain. On the other hand, the vasculature is protected by antioxidant enzyme systems, including superoxide dismutases, catalase, glutathione peroxidases and paraoxonases, which detoxify ROS. Cardiovascular risk factors such as hypercholesterolemia, hypertension, and diabetes mellitus enhance ROS generation, resulting in oxidative stress. This leads to oxidative modification of lipoproteins and phospholipids, mechanisms that contribute to atherogenesis. In addition, oxi…

Etude du rôle du récepteur nucléaire CAR, Constitutive Androstane Receptor, dans le métabolisme des lipides et la susceptibilité à l'athérosclérose

2011

The Constitutive Androstane Receptor (CAR) belongs to the subfamily of nuclear receptors NR1. Initially described as an orphan receptor, CAR is activated by a large number of exogenous molecules and acts as a xenosensor. The activation of CAR by these ligands stimulates transcription of phase I, II and III enzymes required for the detoxification and elimination of xenobiotics. Furthermore CAR is also involved in the metabolism of endogenous molecules such as bile acids, bilirubin or thyroid hormones. CAR has recently been the subject of numerous independent studies that have highlighted his involvement in major metabolic pathways including gluconeogenesis, lipogenesis and lipoprotein metabo…

Fluidity and cytosolic Ca2+ concentration of circulating polymorphonuclear leukocytes at baseline in some chronic and acute clinical conditions: revi…

2016

Abstract. Objective: In this mini-review we describe the behavior of polymorphonuclear leukocyte (PMN) membrane fluidity and of PMN cytosolic Ca2+ concentration in some chronic and acute clinical conditions. Methods: PMN membrane fluidity was evaluated employing the fluorescent probe Fura-2AM, and PMN cytosolic Ca2+ concentration was evaluated using the fluorescent probe TMA-DPH. Results: From the determination of these two parameters investigated on resting PMNs, an almost constant increase in PMN cytosolic Ca2+ concentration in chronic clinical conditions, such as vascular atherosclerotic disease with and without diabetes mellitus, essential hypertension, chronic kidney disease, and diabe…

FATIGUE, SLEEP, AND NOCTURNAL COMPLAINTS IN PATIENTS WITH AMYOTROPHIC LATERAL SCLEROSIS.

2012

Background and purpose: Fatigue is a common symptom in amyotrophic lateral sclerosis (ALS). Although sleep disturbances are a candidate factor that may interfere with fatigue in patients with ALS, the role of sleep-related abnormalities in determining fatigue in ALS is unknown. Objective: To evaluate the frequency and determinants of fatigue in a group of 91 consecutive patients with ALS, with special attention to the relationship between fatigue and sleep problems. Methods: Measures included the Fatigue Severity Scale (FSS), Pittsburgh Sleep Quality Index (PSQI), Epworth Sleepiness Scale (ESS), ALS Functional Rating Scale- Revised (ALSFRS-R), and Beck Depression Inventory (BDI). Results: T…

Sensory System Abnormalities In Amyotrophic Lateral Sclerosis: An Electrophysiological Approach.

2011

Muscle Function Differences between Patients with Bulbar and Spinal Onset Amyotrophic Lateral Sclerosis. Does It Depend on Peripheral Glucose?

2021

Background: One of the pathogenic mechanisms of ALS disease is perturbed energy metabolism particularly glucose metabolism. Given the substantial difference in the severity and the prognosis of the disease, depending on whether it has a bulbar or spinal onset, the aim of the study was to determine metabolic differences between both types of ALS, as well as the possible relationship with muscle function. Materials and Methods: A descriptive, analytical, quantitative, and transversal study was carried out in hospitals and Primary Care centers in the region of Valencia, Spain. Fasting glucose and alkaline phosphatase (AP) levels in venous blood, muscle percentage, fat percentage, muscle streng…

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

2009

The cause of sporadic amyotrophic lateral sclerosis (ALS) is largely unknown, but genetic factors are thought to play a significant role in determining susceptibility to motor neuron degeneration. To identify genetic variants altering risk of ALS, we undertook a two-stage genome-wide association study (GWAS): we followed our initial GWAS of 545 066 SNPs in 553 individuals with ALS and 2338 controls by testing the 7600 most associated SNPs from the first stage in three independent cohorts consisting of 2160 cases and 3008 controls. None of the SNPs selected for replication exceeded the Bonferroni threshold for significance. The two most significantly associated SNPs, rs2708909 and rs2708851 …