0000000001255799
AUTHOR
R. Fresa
showing 10 related works from this author
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia.
2006
Patients homozygous or Compound heterozygous for LDLR mutations or double heterozygous for LDLR and apo B R3500Q mutation have higher LDL-C levels. more extensive xanthomatosis and more severe premature coronary disease (pCAD) than simple heterozygotes for mutations in either these genes or for missense mutations in PCSK9 gene. It is not known whether combined mutations in LDLR and PKCS9 are associated with such a severe phenotype. We sequenced Apo B and PCSK9 genes in two patients with the clinical diagnosis of homozygous FH who were heterozygous for LDLR gene mutations. Proband Z.P. (LDL-C 13.39 mmol/L and pCAD) was heterozygous for an LDLR mutation (p.E228K) inherited from her father (LD…
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.
2015
Background: Monogenic hypertriglyceridemia (HTG) may result from mutations in some genes which impair the intravascular lipolysis of triglyceride (TG)-rich lipoproteins mediated by the enzyme Lipoprotein lipase (LPL). Mutations in the LPL gene are the most frequent cause of monogenic HTG (familial chylomicronemia) with recessive transmission. Methods: The LPL gene was resequenced in 149 patients with severe HTG (TG>10mmol/L) and 106 patients with moderate HTG (TG>4.5 and <10mmol/L) referred to tertiary Lipid Clinics in Italy. Results: In the group of severe HTG, 26 patients (17.4%) were homozygotes, 9 patients (6%) were compound heterozygotes and 15 patients (10%) were simple heter…
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
2013
Abstract Objective To determine the spectrum of gene mutations and the genotype–phenotype correlations in patients with Autosomal Dominant Hypercholesterolemia (ADH) identified in Italy. Methods The resequencing of LDLR , PCSK9 genes and a selected region of APOB gene were conducted in 1018 index subjects clinically heterozygous ADH and in 52 patients clinically homozygous ADH. The analysis was also extended to 1008 family members of mutation positive subjects. Results Mutations were detected in 832 individuals: 97.4% with LDLR mutations, 2.2% with APOB mutations and 0.36% with PCSK9 mutations. Among the patients with homozygous ADH, 51 were carriers of LDLR mutations and one was an LDLR / …
Efficient generation of energetic ions in multi-ion plasmas by radio-frequency heating
2017
We describe a new technique for the efficient generation of high-energy ions with electromagnetic ion cyclotron waves in multi-ion plasmas. The discussed ‘three-ion’ scenarios are especially suited for strong wave absorption by a very low number of resonant ions. To observe this effect, the plasma composition has to be properly adjusted, as prescribed by theory. We demonstrate the potential of the method on the world-largest plasma magnetic confinement device, JET (Joint European Torus, Culham, UK), and the high-magnetic-field tokamak Alcator C-Mod (Cambridge, USA). The obtained results demonstrate efficient acceleration of 3He ions to high energies in dedicated hydrogen–deuterium mixtures.…
Novel method for determination of tritium depth profiles in metallic samples
2019
Tritium accumulation in fusion reactor materials is considered a serious radiological issue, therefore a lot of effort has been concentrated on the development of radiometric techniques. A novel method, based on gradual dissolution, for the determination of the total tritium content and its depth profiles in metallic samples is demonstrated. This method allows for the measurement of tritium in metallic samples after their exposure to a hydrogen and tritium mixture, tritium containing plasma or after irradiation with neutrons resulting in tritium formation. In this method, successive layers of metal are removed using an appropriate etching agent in the controlled regime and the amount of evo…
Overview of the JET results
2015
Since the installation of an ITER-like wall, the JET programme has focused on the consolidation of ITER design choices and the preparation for ITER operation, with a specific emphasis given to the bulk tungsten melt experiment, which has been crucial for the final decision on the material choice for the day-one tungsten divertor in ITER. Integrated scenarios have been progressed with the re-establishment of long-pulse, high-confinement H-modes by optimizing the magnetic configuration and the use of ICRH to avoid tungsten impurity accumulation. Stationary discharges with detached divertor conditions and small edge localized modes have been demonstrated by nitrogen seeding. The differences in…
Comparison of the structure of the plasma-facing surface and tritium accumulation in beryllium tiles from JET ILW campaigns 2011-2012 and 2013-2014
2019
In this study, beryllium tiles from Joint European Torus (JET) vacuum vessel wall were analysed and compared regarding their position in the vacuum vessel and differences in the exploitation conditions during two campaigns of ITER-Like-Wall (ILW) in 2011-2012 (ILW1) and 2013-2014 (ILW2) Tritium content in beryllium samples were assessed. Two methods were used to measure tritium content in the samples - dissolution under controlled conditions and tritium thermal desorption. Prior to desorption and dissolution experiments, scanning electron microscopy and energy dispersive x-ray spectroscopy were used to study structure and chemical composition of plasma-facing-surfaces of the beryllium sampl…
Contraception in diabetic women: an Italian study
2005
Abstract Over 1 year, a survey on contraception and obstetric history was performed on a cohort of 667 Caucasian fertile diabetic women (446, type 1 and 201, type 2) living in Italy. Results: Of these women, 30.4% used hormonal contraceptives, 12.0% intra-uterine device (IUD), 10.7% declared they used no contraception, 47.0% only utilised barrier and/or natural methods. However, irrespective of their previous contraceptive strategy, 7.2% of all the studied population was surgically sterilized during caesarean section. Hormonal contraception: Of these women, 60.4% was prescribed by a gynaecologist, 11.2% by a diabetologist, 15% by both of them and 13.4% by others. The proportion using oral c…
Overview of the JET results with the ITER-like wall
2013
Following the completion in May 2011 of the shutdown for the installation of the beryllium wall and the tungsten divertor, the first set of JET campaigns have addressed the investigation of the retention properties and the development of operational scenarios with the new plasma-facing materials. The large reduction in the carbon content (more than a factor ten) led to a much lower Zeff (1.2-1.4) during L- and H-mode plasmas, and radiation during the burn-through phase of the plasma initiation with the consequence that breakdown failures are almost absent. Gas balance experiments have shown that the fuel retention rate with the new wall is substantially reduced with respect to the C wall. T…
Modelling of JET hybrid plasmas with emphasis on performance of combined ICRF and NBI heating
2018
International audience; During the 2015--2016 JET campaigns, many efforts have been devoted to the exploration of high-performance plasma scenarios envisaged for DT operation in JET. In this paper, we review various key recent hybrid discharges and model the combined ICRF NBI heating. These deuterium discharges with deuterium beams had the ICRF antenna frequency tuned to match the cyclotron frequency of minority H at the centre of the tokamak coinciding with the second harmonic cyclotron resonance of D. The modelling takes into account the synergy between ICRF and NBI heating through the second harmonic cyclotron resonance of D beam ions, allowing us to assess its impact on the neutron rate…