Search results for "PIDE"

CLINICAL CHARACTERISTICS AND PLASMA LIPIDS IN SUBJECTS WITH FAMILIAL COMBINED HYPOLIPIDEMIA: A POOLED ANALYSIS

2013

Background. Angiopoietin-like 3 (ANGPTL3) regulates lipoprotein metabolism by modulating extracellular lipases. Loss-of function mutations in ANGPTL3 gene cause familial combined hypolipidemia (FHBL2). The mode of inheritance and hepatic and vascular consequences of FHBL2 have not been fully elucidated. To get further insights on these aspects, we re-evaluated the clinical and the biochemical characteristics of all reported cases of FHBL2. Methods and Results. One hundred fteen FHBL2 individuals carrying 13 different mutations in the ANGPTL3 gene (14 homozygotes, 8 compound heterozygotes and 93 heterozygotes) and 402 controls were considered. Carriers of 2 mutant alleles had undetectable pl…

Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study.

2015

INTRODUCTION: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT).METHODS: Cases of CDH delivered between 1980 and 2009 notified to 31 EUROCAT registers formed the population-based case series. Prevalence over time was estimated using multilevel Poisson regression, and heterogeneity between registers was evaluated from the random component of the intercept.RESULTS: There were 3373 CDH cases reported among 12 155 491 registered births. Of 3131 singleton cases, 353 (10.4%) were associated wit…

Epidemiology of eating disorders in Latin America: a systematic review and meta-analysis.

2016

Purpose of reviewEating disorders are currently not considered to be limited to Western culture. We systematically reviewed the existing literature on the prevalence of eating disorders in Latin America.Recent findingsOf 1583 records screened, 17 studies from Argentina, Brazil, Chile, Colombia, Mexico, and Venezuela were included in the analysis. Most studies reported point-prevalence rates and only three studies provided lifetime and 12-month prevalence rates. We found a mean point-prevalence rate of 0.1% for anorexia nervosa, 1.16% for bulimia nervosa, and 3.53% for binge-eating disorder (BED) in the general population. Heterogeneity for bulimia nervosa and BED was large. This meta-analys…

P3–244: The impact of LRP on APP metabolism along the secretory pathway

2006

Clinical evaluation of bempedoic acid for the treatment of hyperlipidaemia.

2021

Bempedoic acid (BA) is a novel first-in-class oral lipid-lowering therapy. BA has been approved by the European Medicinal Agency and Food and Drug Administration and has been commercialised throughout Europe since the end of 2020 as an add-on therapy in patients at high/very-high cardiovascular risk that are not at LDL-C goals with current lipid-lowering treatments. Recently, Italian lipid management experts gathered to discuss several open questions on BA characteristics and BArelated practical clinical issues. The panel permitted collection of its opinions in a ten Q&A format. Aim: The aim of this viewpoint is to discuss and answer several open questions on BA characteristics and BA-r…

HETEROGENITY OF AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA IN SICILY

2004

Cytotoxicity of cucurbitacin E from Citrullus colocynthis against multidrug-resistant cancer cells

2019

Abstract Background Cucurbitacin E (CuE) is an oxygenated tetracyclic triterpenoid isolated from the fruits of Citrullus colocynthis (L.) Schrad. Purpose This study outlines CuE's cytotoxic activity against drug-resistant tumor cell lines. Three members of ABC transporters superfamily, P-glycoprotein (P-gp), breast cancer resistance protein (BCRP) and ABCB5 were investigated, whose overexpression in tumors is tightly linked to multidrug resistance. Further factors of drug resistance studied were the tumor suppressor TP53 and the epidermal growth factor receptor (EGFR). Methods Cytotoxicity assays (resazurin assays) were used to investigate the activity of Citrullus colocynthis and CuE towar…

Effectiveness and safety of lomitapide in a patient with familial chylomicronemia syndrome

2020

Background: Familial chylomicronemia syndrome (FCS) is characterized by severe fasting hypertriglyceridemia, abdominal pain, and recurrent acute pancreatitis. Available triglyceride-lowering drugs are insufficient to avoid pancreatitis. Therefore, there is a significant unmet medical need for effective triglyceride-lowering drugs for patients with FCS. Case report: We report the second case of a patient with FCS and recurrent pancreatitis treated with lomitapide. Lomitapide treatment resulted in a reduction of fasting TG levels from 2897 mg/dL (32.71 mmol/L) to an average of 954 mg/dL (10.77 mmol/L) on the 30 mg lomitapide equating to a 67% reduction from baseline. After 26 months of lomita…

The mammary pheromone of the rabbit: from where does it come?

2005

Newborn rabbits, Oryctolagus cuniculus, are directed to their mother's nipples by specialized odour cues. Previous investigations have suggested that these cues are released from the doe's abdominal surface from structures located around the nipple. We tested pups with samples of various cutaneous tissues or fluids collected from lactating females to determine the location of the source of the odour cues. After finding that the nipples from lactating does were more attractive than those of virgin females, we conducted three experiments using skin samples collected at increasing distance from the nipples, dermal and mammary tissues taken below the nipples, and milk collected at different lev…

Molecular epidemiology of Acinetobacter baumannii in Iran: endemic and epidemic spread of multiresistant isolates

2014

Objectives We examined the molecular epidemiology of Acinetobacter baumannii clinical isolates from two cities (Tehran and Tabriz) of Iran. Methods DiversiLab repetitive extragenic palindromic PCR (rep-PCR), multilocus sequence typing and sequence group multiplex PCR were performed. The presence of resistance mechanisms including metallo-β-lactamases, extended-spectrum β-lactamases, OXA carbapenemases, aminoglycoside-modifying enzymes and RNA methylases was also investigated. Results DiversiLab rep-PCR identified 11 clusters and 11 singleton isolates. Twelve sequence types (STs), including six novel types, were identified. Sequence groups (SGs) 1-3 as well as five additional banding pattern…