Search results for " familial"

The production of 85 kDa N-terminal fragment of apolipoprotein B in mutant HepG2 cells generated by targeted modification of apoB gene occurs by ALLN…

2010

Abstract To study the mechanism of low levels of full length and truncated apoB in individuals heterozygous for apoB truncation, a non-sense mutation was introduced in one of the three alleles of apob gene of HepG2 cells by homologous recombination. Despite very low levels of apoB-82 (1–2%) in the media, a prominent N-terminal apoB protein of 85 kDa (apoB-15) was secreted that fractionated at d > 1.065 in density gradient ultracentrifugation. The mechanism of production of this short protein was studied by 35S-methionine pulse–chase experiment. Oleate prevented presecretory degradation of apoB-100 in the cell and resulted in increased secretion of newly synthesized apoB-100 with decreases i…

"Analyse d'ADN et regroupement familial : le Ministère a renoncé, mais le droit commun subsiste", JCP éd. G, 2010, n° 16 du 19 avril, p. 450 et s.

2010

National audience

Même prononcée dans l'intérêt du service, même concernant un militaire, une mutation peut porter atteinte au droit au respect de la vie privée et fam…

2012

International audience

Gouvernance des entreprises et divulgation d'informations relatives à la rémunération des dirigeants

2017

International audience; Ce travail examine dans quelle mesure les entreprises se conforment au code de gouvernance en ce qui concerne la communication des éléments relatifs à la rémunération des dirigeants, et s'intéresse aux facteurs pouvant expliquer le niveau de divulgation. A partir d'un échantillon de sociétés cotées sur Euronext, nous mettons en évidence une conformité relativement faible des entreprises avec les recommandations du code AFEP/MEDEF et de l'AMF. Nous montrons par ailleurs que les entreprises familiales sont associées à des scores de divulgation significativement plus faibles, tandis que l'indépendance des administrateurs favorise une divulgation de meilleure qualité.

The Impact of Student Diversity in Secondary Schools : An Analysis of the International PISA Data and Implications for the German Education System

2006

While increased heterogeneity in schools (diversity) leads to reduced segregation and greater equity for students from different family backgrounds, it is often expected to have a negative impact on overall performance, and on student well-being and motivation. In this study, neither cross-country comparisons nor student-level analysis confirm this hypothesis. In some countries, students' overall achievement as well as their interest and engagement even appear to be positively influenced by diversity, notably by socio-economic and cultural diversity. In Germany, socio-economic diversity has a positive impact on student achievement, and ability related and cultural diversity positively affec…

Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease

2013

Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF). We examined the Mediterranean fever (MEFV) and α-galactosidase A (GLA) genes, whose mutations are responsible for FMF and FD, respectively, in 42 unrelated patients diagnosed with FMF, which revealed significant ambiguity regarding some of the symptoms which are also present in FD. The objective of this study was to determine the spectrum of mutations present in these genes, in order to identify cases of mistaken diagnosis of FMF and/or missed diagnosis of FD. Ten out of 42 patients had one mutation in homozyg…

Appropriateness criteria for the management of lipid-lowering therapy with alirocumab in high cardiovascular risk patients. The opinion of a multidis…

2020

High levels of LDL cholesterol (LDL-C) represent a causal factor for cardiovascular diseases on an atherosclerotic basis, with a direct correlation between these and mortality or cardiovascular events, such that the reduction of both is associated proportionally and linearly with the reduction of LDL-C.Statins and ezetimibe are used for LDL-C lowering but may not be sufficient to achieve the targets defined by the ESC/EAS guidelines, which recommend use of PCSK9 inhibitors for further LDL-C reduction in patients not at goal.This project submitted 86 clinical scenarios to a group of experts, cardiologists, internists and lipidologists, collecting their opinion on the appropriateness of diffe…

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 novel therapeutic strategy to cure the Homozygous Familial Hypercholesterolemia with residual LDL receptor activity

2020

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…