Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia

Background Evidence suggests that LPA risk genotypes are a possible contributor to the clinical diagnosis of familial hypercholesterolemia (FH). This study aimed at determining the prevalence of LPA risk variants in adult individuals with FH enrolled in the Italian LIPIGEN (Lipid Transport Disorders Italian Genetic Network) study, with (FH/M+) or without (FH/M-) a causative genetic variant. Methods and ResultsAn lp(a) [lipoprotein(a)] genetic score was calculated by summing the number risk-increasing alleles inherited at rs3798220 and rs10455872 variants. Overall, in the 4.6% of 1695 patients with clinically diagnosed FH, the phenotype was not explained by a monogenic or polygenic cause but by genotype associated with high lp(a) levels. Among 765 subjects with FH/M- and 930 subjects with FH/M+, 133 (17.4%) and 95 (10.2%) were characterized by 1 copy of either rs10455872 or rs3798220 or 2 copies of either rs10455872 or rs3798220 (lp(a) score >= 1). Subjects with FH/M- also had lower mean levels of pretreatment low-density lipoprotein cholesterol than individuals with FH/M+ (t test for difference in means between FH/M- and FH/M+ groups <0.0001); however, subjects with FH/M- and lp(a) score >= 1 had higher mean (SD) pretreatment low-density lipoprotein cholesterol levels (223.47 [50.40] mg/dL) compared with subjects with FH/M- and lp(a) score=0 (219.38 [54.54] mg/dL for), although not statistically significant. The adjustment of low-density lipoprotein cholesterol levels based on lp(a) concentration reduced from 68% to 42% the proportion of subjects with low-density lipoprotein cholesterol level >= 190 mg/dL (or from 68% to 50%, considering a more conservative formula). ConclusionsOur study supports the importance of measuring lp(a) to perform the diagnosis of FH appropriately and to exclude that the observed phenotype is driven by elevated levels of lp(a) before performing the genetic test for FH

Charged jet cross sections and properties in proton-proton collisions at root s=7 TeV

The differential charged jet cross sections, jet fragmentation distributions, and jet shapes are measured in minimum bias proton-proton collisions at center-of-mass energy root s = 7 TeV using the ALICE detector at the LHC. Jets are reconstructed from charged particle momenta in the midrapidity region using the sequential recombination k(T) and anti-k(T) as well as the SISCone jet finding algorithms with several resolution parameters in the range R = 0.2-0.6. Differential jet production cross sections measured with the three jet finders are in agreement in the transverse momentum (p(T)) interval 20 ) of the reconstructed jet p(T). The fragmentation of leading jets with R = 0.4 using scaled p(T) spectra of the jet constituents is studied. The measurements are compared to model calculations from event generators (PYTHIA, PHOJET, HERWIG). The measured radial density distributions and distributions are well described by the PYTHIA model (tune Perugia-2011). The fragmentation distributions are better described by HERWIG.Peer reviewe

Inclusive photon production at forward rapidities in proton\u2013proton collisions at 1a s = 0.9, 2.76 and 7 TeV

The multiplicity and pseudorapidity distribu- tions of inclusive photons have been measured at forward rapidities (2.3 < \u3b7 < 3.9) in proton\u2013proton collisions at three center-of-mass energies, 1as = 0.9, 2.76 and 7 TeV using the ALICE detector. It is observed that the increase in the average photon multiplicity as a function of beam energy is compatible with both a logarithmic and a power-law dependence. The relative increase in average photon multi- plicity produced in inelastic pp collisions at 2.76 and 7 TeV center-of-mass energies with respect to 0.9 TeV are 37.2 \ub1 0.3% (stat) \ub1 8.8% (sys) and 61.2 \ub1 0.3% (stat) \ub1 7.6% (sys), respectively. The photon multiplicity distributions for all center-of-mass energies are well described by negative binomial distributions. The multiplicity distributions are also presented in terms of KNO variables. The results are com- pared to model predictions, which are found in general to underestimate the data at large photon multiplicities, in par- ticular at the highest center-of-mass energy. Limiting frag- mentation behavior of photons has been explored with the data, but is not observed in the measured pseudorapidity range

Multiplicity dependence of jet-like two-particle correlation structures in p-Pb collisions at 1asNN=5.02 TeV

Two-particle angular correlations between unidentified charged trigger and associated particles are measured by the ALICE detector in p\u2013Pb collisions at a nucleon\u2013nucleon centre-of-mass energy of 5.02 TeV. The transverse-momentum range 0.7 < pT,assoc < pT,trig < 5.0 GeV/c is examined, to include correlations induced by jets originating from low momentum-transfer scatterings (minijets). The correlations expressed as associated yield per trigger particle are obtained in the pseudorapidity range |\u3b7| < 0.9. The near-side long-range pseudorapidity correlations observed in high-multiplicity p\u2013Pb collisions are subtracted from both near-side short-range and away-side correlations in order to remove the non-jet-like components. The yields in the jet-like peaks are found to be invariant with event multiplicity with the exception of events with low multiplicity. This invariance is consistent with the particles being produced via the incoherent fragmentation of multiple parton\u2013parton scatterings, while the yield related to the previously observed ridge structures is not jet-related. The number of uncorrelated sources of particle production is found to increase linearly with multiplicity, suggesting no saturation of the number of multi-parton interactions even in the highest multiplicity p\u2013Pb collisions. Further, the number scales only in the intermediate multiplicity region with the number of binary nucleon\u2013nucleon collisions estimated with a Glauber Monte-Carlo simulation

Production of Σ(1385)± and Ξ(1530)0 in proton–proton collisions at √s = 7 TeV

The production of the strange and double-strange baryon resonances (Σ(1385)±, Ξ(1530)0) has been measured at mid-rapidity (|y| <0.5) in proton–proton collisions at s√ = 7 TeV with the ALICE detector at the LHC. Transverse momentum spectra for inelastic collisions are compared to QCD-inspired models, which in general underpredict the data. A search for the ϕ(1860) pentaquark, decaying in the Ξπ channel, has been carried out but no evidence is seen