Reference materials (RMs) for analysis of the human factor II (prothrombin) gene G20210A mutation

The Scientific Committee of Molecular Biology Techniques (C-MbT) in Clinical Chemistry of the IFCC has initiated a joint project in co-operation with the European Commission, Joint Research Centre, Institute of Reference Materials and Measurements to develop and produce plasmid-type reference materials (RMs), for the analysis of the human prothrombin gene G20210A mutation. Although DNA tests have a high impact on clinical decision-making and the number of tests performed in diagnostic laboratories is high, issues of quality and quality assurance exist, and currently only a few RMs for clinical genetic testing are available. A gene fragment chosen was produced that spans all primer annealing sites published to date. Both the wild-type and mutant alleles of this gene fragment were cloned into a pUC18 plasmid and two plasmid RMs were produced. In addition, a mixture of both plasmids was produced to mimic the heterozygous genotype. The present study describes the performance of these reference materials in a commutability study, in which they were tested by nine different methods in 13 expert laboratories.. This series of plasmid RMs are, to the best of our knowledge, the first plasmid-type clinical genetic RMs introduced worldwide

"Snowflake" H Mode in a Tokamak Plasma

An edge-localized mode (ELM) H-mode regime, supported by electron cyclotron heating, has been successfully established in a snowflake (second-order null) divertor configuration for the first time in the TCV tokamak. This regime exhibits 2 to 3 times lower ELM frequency and 20%30% increased normalized ELM energy ($Delta W_{ELM}/W_p$) compared to an identically shaped, conventional single-null diverted H mode. Enhanced stability of mid- to high-toroidal-mode-number ideal modes is consistent with the different snowflake ELM phenomenology. The capability of the snowflake to redistribute the edge power on the additional strike points has been confirmed experimentally

Measurement of the CKM angle γ from a combination of B±→Dh± analyses

A combination of three LHCb measurements of the CKM angle γ is presented. The decays B±→D K± and B±→Dπ± are used, where D denotes an admixture of D0 and D0 mesons, decaying into K+K−, π+π−, K±π∓, K±π∓π±π∓, K0Sπ+π−, or K0S K+K− final states. All measurements use a dataset corresponding to 1.0 fb−1 of integrated luminosity. Combining results from B±→D K± decays alone a best-fit value of γ =72.0◦ is found, and confidence intervals are set γ ∈ [56.4,86.7]◦ at 68% CL, γ ∈ [42.6,99.6]◦ at 95% CL. The best-fit value of γ found from a combination of results from B±→Dπ± decays alone, is γ =18.9◦, and the confidence intervals γ ∈ [7.4,99.2]◦ ∪ [167.9,176.4]◦ at 68% CL are set, without constraint at 95% CL. The combination of results from B± → D K± and B± → Dπ± decays gives a best-fit value of γ =72.6◦ and the confidence intervals γ ∈ [55.4,82.3]◦ at 68% CL, γ ∈ [40.2,92.7]◦ at 95% CL are set. All values are expressed modulo 180◦, and are obtained taking into account the effect of D0–D0 mixing

The rs13388259 Intergenic Polymorphism in the Genomic Context of the BCYRN1 Gene Is Associated with Parkinson’s Disease in the Hungarian Population

Parkinson's disease (PD) is a common neurodegenerative disorder characterized by bradykinesia, resting tremor, and muscle rigidity. To date, approximately 50 genes have been implicated in PD pathogenesis, including both Mendelian genes with rare mutations and low-penetrance genes with common polymorphisms. Previous studies of low-penetrance genes focused on protein-coding genes, and less attention was given to long noncoding RNAs (lncRNAs). In this study, we aimed to investigate the susceptibility roles of lncRNA gene polymorphisms in the development of PD. Therefore, polymorphisms (n = 15) of the PINK1-AS, UCHL1-AS, BCYRN1, SOX2-OT, ANRIL and HAR1A lncRNAs genes were genotyped in Hungarian PD patients (n = 160) and age- and sex-matched controls (n = 167). The rare allele of the rs13388259 intergenic polymorphism, located downstream of the BCYRN1 gene, was significantly more frequent among PD patients than control individuals (OR = 2.31; p = 0.0015). In silico prediction suggested that this polymorphism is located in a noncoding region close to the binding site of the transcription factor HNF4A, which is a central regulatory hub gene that has been shown to be upregulated in the peripheral blood of PD patients. The rs13388259 polymorphism may interfere with the binding affinity of transcription factor HNF4A, potentially resulting in abnormal expression of target genes, such as BCYRN1

ИСПАРЕНИЕ КАДМИЯ ИЗ РАСПЛАВОВ С КРИСТАЛЛИЗАЦИЕЙ ПРИМЕСЕЙ

The continuous weighing technique has been used for determination of cadmium evaporation degree (α) and rate (V) from binary alloys with nickel, copper and silver (2 wt.% each) at the temperature of 400–500 °C and the pressure of 13–2660 Pa with liquidus line transition from the liquid solution range to the impurity crystallization range under the isothermal conditions. The αand V change curves in time are characteristic for the impurity accumulation processes in the residue and the growing effect of the diffusion factor of more volatile component – cadmium supply to the evaporation surface. When the system passes the liquidus line, the V(τ) curves show a specific kink with V value decrease caused by the evaporation mechanism change. The cadmium evaporation rate in the two-phase field of coexistence cadmium intermetallic compound and liquid solutions on its basis is comparable to that from homogeneous alloy and it is admissible in the process technology.Методом непрерывного взвешивания определены степень (α) и скорость испарения (V) кадмия из бинарных сплавов с никелем, медью и серебром (по 2 мас.%) при температурах 400–500 °С и давлениях 13–2660 Па с переходом линии ликвидуса из области жидких растворов в область кристаллизации примеси в изотермических условиях. Кривые изменения α и V во времени характерны для процессов накопления примесей в остатке и нарастания влияния диффузионного фактора подвода к поверхности испарения более летучего компонента – кадмия. При переходе системой линии ликвидуса на кривых V(τ) отмечен характерный излом с понижением величины V, обусловленный сменой механизма процесса испарения. Скорость испарения Cd в двухфазной области сосуществования интерметаллидов кадмия и жидких растворов на его основе сопоставима с таковой из гомогенного сплава и приемлема в технологическом процессе

A compact and cost-effective hard X-ray free-electron laser driven by a high-brightness and low-energy electron beam

We present the first lasing results of SwissFEL, a hard X-ray free-electron laser (FEL) that recently came into operation at the Paul Scherrer Institute in Switzerland. SwissFEL is a very stable, compact and cost-effective X-ray FEL facility driven by a low-energy and ultra-low-emittance electron beam travelling through short-period undulators. It delivers stable hard X-ray FEL radiation at 1-Å wavelength with pulse energies of more than 500 μJ, pulse durations of ~30 fs (root mean square) and spectral bandwidth below the per-mil level. Using special configurations, we have produced pulses shorter than 1 fs and, in a different set-up, broadband radiation with an unprecedented bandwidth of ~2%. The extremely small emittance demonstrated at SwissFEL paves the way for even more compact and affordable hard X-ray FELs, potentially boosting the number of facilities worldwide and thereby expanding the population of the scientific community that has access to X-ray FEL radiation

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=0.745-0.058+0.048(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