Infective Endocarditis After Melody Valve Implantation in the Pulmonary Position: A Systematic Review

Developmen

Specific MRI abnormalities reveal severe perrault syndrome due to CLPP defects

In establishing a genetic diagnosis in heterogeneous neurological disease, clinical characterization and whole exome sequencing (WES) go hand-in-hand. Clinical data are essential, not only to guide WES variant selection and define the clinical severity of a genetic defect but also to identify other patients with defects in the same gene. In an infant patient with sensorineural hearing loss, psychomotor retardation, and epilepsy, WES resulted in identification of a novel homozygous CLPP frameshift mutation (c.21delA). Based on the gene defect and clinical symptoms, the diagnosis Perrault syndrome type 3 (PRLTS3) was established. The patient's brain-MRI revealed specific abnormalities of the subcortical and deep cerebral white matter and the middle blade of the corpus callosum, which was used to identify similar patients in the Amsterdam brain-MRI database, containing over 3000 unclassified leukoencephalopathy cases. In three unrelated patients with similar MRI abnormalities the CLPP gene was sequenced, and in two of them novel missense mutations were identified together with a large deletion that covered part of the CLPP gene on the other allele. The severe neurological and MRI abnormalities in these young patients were due to the drastic impact of the CLPP mutations, correlating with the variation in clinical manifestations among previously reported patients. Our data show that similarity in brain-MRI patterns can be used to identify novel PRLTS3 patients, especially during early disease stages, when only part of the disease manifestations are present. This seems especially applicable to the severely affected cases in which CLPP function is drastically affected and MRI abnormalities are pronounced

BB flavour tagging using charm decays at the LHCb experiment

An algorithm is described for tagging the flavour content at production of neutral $B$ mesons in the LHCb experiment. The algorithm exploits the correlation of the flavour of a $B$ meson with the charge of a reconstructed secondary charm hadron from the decay of the other $b$ hadron produced in the proton-proton collision. Charm hadron candidates are identified in a number of fully or partially reconstructed Cabibbo-favoured decay modes. The algorithm is calibrated on the self-tagged decay modes $B^+ \to J/\psi \, K^+$ and $B^0 \to J/\psi \, K^{*0}$ using $3.0\mathrm{\,fb}^{-1}$ of data collected by the LHCb experiment at $pp$ centre-of-mass energies of $7\mathrm{\,TeV}$ and $8\mathrm{\,TeV}$. Its tagging power on these samples of $B \to J/\psi \, X$ decays is $(0.30 \pm 0.01 \pm 0.01) \%$.Comment: All figures and tables, along with any supplementary material and additional information, are available at http://lhcbproject.web.cern.ch/lhcbproject/Publications/LHCbProjectPublic/LHCb-PAPER-2015-027.htm

ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype

Recently, ADAMTS19 was identified as a novel causative gene for autosomal recessive heart valve disease (HVD), affecting mainly the aortic and pulmonary valves. Exome sequencing and data repository (CentoMD) analyses were performed to identify patients with ADAMTS19 variants (two families). A third family was recognized based on cardiac phenotypic similarities and SNP array homozygosity. Three novel loss of function (LoF) variants were identified in six patients from three families. Clinically, all patients presented anomalies of the aortic/pulmonary valves, which included thickening of valve leaflets, stenosis and insufficiency. Three patients had (recurrent) subaortic membrane, suggesting that ADAMTS19 is the first gene identified related to discrete subaortic stenosis. One case presented a bi-commissural pulmonary valve. All patients displayed some degree of atrioventricular valve insufficiency. Other cardiac anomalies included atrial/ventricular septal defects, persistent ductus arteriosus, and mild dilated ascending aorta. Our findings confirm that biallelic LoF variants in ADAMTS19 are causative of a specific and recognizable cardiac phenotype. We recommend considering ADAMTS19 genetic testing in all patients with multiple semilunar valve abnormalities, particularly in the presence of subaortic membrane. ADAMTS19 screening in patients with semilunar valve abnormalities is needed to estimate the frequency of the HVD related phenotype, which might be not so rare

Identification of beauty and charm quark jets at LHCb

Identification of jets originating from beauty and charm quarks is important for measuring Standard Model processes and for searching for new physics. The performance of algorithms developed to select $b$- and $c$-quark jets is measured using data recorded by LHCb from proton-proton collisions at $\sqrt{s}=7$ TeV in 2011 and at $\sqrt{s}=8$ TeV in 2012. The efficiency for identifying a $b(c)$ jet is about 65%(25%) with a probability for misidentifying a light-parton jet of 0.3% for jets with transverse momentum $p_{\rm T} > 20$ GeV and pseudorapidity $2.2 < \eta < 4.2$. The dependence of the performance on the $p_{\rm T}$ and $\eta$ of the jet is also measured

Measurement of CP observables in B± → D(⁎)K± and B± → D(⁎)π± decays

Measurements of CP observables in B ± →D (⁎) K ± and B ± →D (⁎) π ± decays are presented, where D (⁎) indicates a neutral D or D ⁎ meson that is an admixture of D (⁎)0 and D¯ (⁎)0 states. Decays of the D ⁎ meson to the Dπ 0 and Dγ final states are partially reconstructed without inclusion of the neutral pion or photon, resulting in distinctive shapes in the B candidate invariant mass distribution. Decays of the D meson are fully reconstructed in the K ± π ∓ , K + K − and π + π − final states. The analysis uses a sample of charged B mesons produced in pp collisions collected by the LHCb experiment, corresponding to an integrated luminosity of 2.0, 1.0 and 2.0 fb −1 taken at centre-of-mass energies of s=7, 8 and 13 TeV, respectively. The study of B ± →D ⁎ K ± and B ± →D ⁎ π ± decays using a partial reconstruction method is the first of its kind, while the measurement of B ± →DK ± and B ± →Dπ ± decays is an update of previous LHCb measurements. The B ± →DK ± results are the most precise to date

Observation of the decay B0s → ψ(2S)K +π−

The decay B0 s → ψ(2S)K +π− is observed using a data set corresponding to an integrated luminosity of 3.0 fb−1 collected by the LHCb experiment in pp collisions at centre-of-mass energies of 7 and 8 TeV. The branching fraction relative to the B0 → ψ(2S)K +π− decay mode is measured to be B(B0 s → ψ(2S)K +π−) B(B0 → ψ(2S)K +π−) = 5.38 ± 0.36 (stat) ± 0.22 (syst) ± 0.31 (f s/ fd)%, where f s/ fd indicates the uncertainty due to the ratio of probabilities for a b quark to hadronise into a B0 s or B0 meson. Using an amplitude analysis, the fraction of decays proceeding via an intermediate K∗(892)0 meson is measured to be 0.645 ± 0.049 (stat) ± 0.049 (syst) and its longitudinal polarisation fraction is 0.524 ± 0.056 (stat) ± 0.029 (syst). The relative branching fraction for this component is determined to be B(B0 s → ψ(2S)K∗(892)0) B(B0 → ψ(2S)K∗(892)0) = 5.58 ± 0.57 (stat) ± 0.40 (syst) ± 0.32 (f s/ fd)%. In addition, the mass splitting between the B0 s and B0 mesons is measured as M(B0 s ) − M(B0) = 87.45 ± 0.44 (stat) ± 0.09 (syst) MeV/c2

Observation of the B0 → ρ0ρ0 decay from an amplitude analysis of B0 → (π+π−)(π+π−) decays

Proton–proton collision data recorded in 2011 and 2012 by the LHCb experiment, corresponding to an integrated luminosity of 3.0 fb−1, are analysed to search for the charmless B0 → ρ0ρ0 decay. More than 600 B0 → (π+π−)(π+π−) signal decays are selected and used to perform an amplitude analysis, under the assumption of no CP violation in the decay, from which the B0 → ρ0ρ0 decay is observed for the first time with 7.1 standard deviations significance. The fraction of B0 → ρ0ρ0 decays yielding a longitudinally polarised final state is measured to be fL = 0.745+0.048 −0.058(stat) ± 0.034(syst). The B0 → ρ0ρ0 branching fraction, using the B0 → φK∗(892)0 decay as reference, is also reported as B(B0 → ρ0ρ0) = (0.94 ± 0.17(stat) ± 0.09(syst) ± 0.06(BF)) × 10−6

Measurement of the CP-violating phase β in B0 → J/ψπ+π− decays and limits on penguin effects

Time-dependent CP violation is measured in the (—) B 0 → J/ψπ+π− channel for each π+π− resonant final state using data collected with an integrated luminosity of 3.0 fb−1 in pp collisions using the LHCb detector. The final state with the largest rate, J/ψρ0(770), is used to measure the CP-violating angle 2βeff to be (41.7 ± 9.6+2.8 −6.3)◦. This result can be used to limit the size of penguin amplitude contributions to CP violation measurements in, for example, (—) B 0 s → J/ψφ decays. Assuming approximate SU(3) flavour symmetry and neglecting higher order diagrams, the shift in the CP-violating phase φs is limited to be within the interval [−1.05◦,+1.18◦] at 95% confidence level. Changes to the limit due to SU(3) symmetry breaking effects are also discussed

LHCb detector performance

The LHCb detector is a forward spectrometer at the Large Hadron Collider (LHC) at CERN. The experiment is designed for precision measurements of CP violation and rare decays of beauty and charm hadrons. In this paper the performance of the various LHCb sub-detectors and the trigger system are described, using data taken from 2010 to 2012. It is shown that the design criteria of the experiment have been met. The excellent performance of the detector has allowed the LHCb collaboration to publish a wide range of physics results, demonstrating LHCb's unique role, both as a heavy flavour experiment and as a general purpose detector in the forward region