Failure of the Standard Coupled-Channels Method in Describing the Inelastic Reaction Data: On the Use of a New Shape for the Coupling Potential

We present the failure of the standard coupled-channels method in explaining the inelastic scattering together with other observables such as elastic scattering, excitation function and fusion data. We use both microscopic double-folding and phenomenological deep potentials with shallow imaginary components. We argue that the solution of the problems for the inelastic scattering data is not related to the central nuclear potential, but to the coupling potential between excited states. We present that these problems can be addressed in a systematic way by using a different shape for the coupling potential instead of the usual one based on Taylor expansion.Comment: 10 pages, 4 figures, 1 table, Latex:RevTex4 published in J. Phys. G: Nucl. Part. Phy

Breaking a species barrier by enabling hybrid recombination

Hybrid sterility maintains reproductive isolation between species by preventing them from exchanging genetic material1. Anti-recombination can contribute to hybrid sterility when different species' chromosome sequences are too diverged to cross over efficiently during hybrid meiosis, resulting in chromosome mis-segregation and aneuploidy. The genome sequences of the yeasts Saccharomyces cerevisiae and Saccharomyces paradoxus have diverged by about 12% and their hybrids are sexually sterile: nearly all of their gametes are aneuploid and inviable. Previous methods to increase hybrid yeast fertility have targeted the anti-recombination machinery by enhancing meiotic crossing over. However, these methods also have counteracting detrimental effects on gamete viability due to increased mutagenesis2 and ectopic recombination3. Therefore, the role of anti-recombination has not been fully revealed, and it is often dismissed as a minor player in speciation1. By repressing two genes, SGS1 and MSH2, specifically during meiosis whilst maintaining their mitotic expression, we were able to increase hybrid fertility 70-fold, to the level of non-hybrid crosses, confirming that anti-recombination is the principal cause of hybrid sterility. Breaking this species barrier allows us to generate, for the first time, viable euploid gametes containing recombinant hybrid genomes from these two highly diverged parent species

Effects of Passive and active Rest on Physiological Responses and Time Motion Characteristics in Different Small Sided Soccer Games

The purpose of this study was to investigate the effects of resting regimes on physiological responses and time motion characteristics between bouts during small sided games (SSGs) in young soccer players. Sixteen players (average age 16.87 ± 0.34 years; body height 176.69 ± 3.21 cm; body mass 62.40 ± 2.59 kg; training experience 3.75 ± 0.44 years) performed four bouts 2-a-side, 3-a-side and 4-a-side games with three minutes active (SSGar: Running at 70% of HRmax) and passive (SSGpr) rest between bouts at two-day intervals. The heart rate (HR) along with total distance covered in different speed zones - walking (W, 0-6.9 km·h-1), low-intensity running (LIR, 7.0-12.9 km·h-1), moderate-intensity running (MIR, 13.0-17.9 km·h-1) and high-intensity running (HIR, >18km·h-1), were monitored during all SSGs, whereas the rating of perceived exertion (RPE, CR-20) and venous blood lactate (La-) were determined at the end of the last bout of each SSG. The results demonstrated that all SSGpr elicited significantly higher physiological responses compared to SSGar in terms of the RPE and La- (p < 0.05). In addition, 2-a-side SSGpr induced significantly lower %HRmax responses and total distance covered than 2-a-side SSGar (p < 0.05). Moreover, the distance covered at HIR was significantly higher in 4-a-side SSGar than 4-side SSGpr. The results of this study indicate that both SSGs with passive and active rest can be used for soccer specific aerobic endurance training. Furthermore, all SSGs with active recovery should be performed in order to increase players and teams' performance capacity for subsequent bouts. © 2017 Editorial Committee of Journal of Human Kinetics 2017

An Improvement of the Asymptotic Iteration Method for Exactly Solvable Eigenvalue Problems

We derive a formula that simplifies the original asymptotic iteration method formulation to find the energy eigenvalues for the analytically solvable cases. We then show that there is a connection between the asymptotic iteration and the Nikiforov--Uvarov methods, which both solve the second order linear ordinary differential equations analytically.Comment: RevTex4, 8 page

Approximate solution of the Duffin-Kemmer-Petiau equation for a vector Yukawa potential with arbitrary total angular momenta

The usual approximation scheme is used to study the solution of the Duffin-Kemmer-Petiau (DKP) equation for a vector Yukawa potential in the framework of the parametric Nikiforov-Uvarov (NU) method. The approximate energy eigenvalue equation and the corresponding wave function spinor components are calculated for arbitrary total angular momentum in closed form. Further, the approximate energy equation and wave function spinor components are also given for case. A set of parameter values is used to obtain the numerical values for the energy states with various values of quantum levelsComment: 17 pages; Communications in Theoretical Physics (2012). arXiv admin note: substantial text overlap with arXiv:1205.0938, and with arXiv:quant-ph/0410159 by other author

Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients

Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced transcriptional activity of pathogenic variants confirmed partial or complete PAX1 deficiency. Thymic aplasia and hypoplasia were associated with impaired T cell immunity. Corrective treatment was required in 4/6 patients. Hematopoietic stem cell transplantation resulted in poor immune reconstitution with absent naïve T cells, contrasting with the superior recovery of T cell immunity after thymus transplantation. Normal ex vivo differentiation of PAX1-deficient CD34+ cells into mature T cells demonstrated the absence of a hematopoietic cell-intrinsic defect. New overlapping features with DiGeorge syndrome included primary hypoparathyroidism (n = 5) and congenital heart defects (n = 2), in line with PAX1 expression during early embryogenesis. Our results highlight new features of PAX1 deficiency, which are relevant to improving early diagnosis and identifying patients requiring corrective treatment

Population genetic analysis of bi-allelic structural variants from low-coverage sequence data with an expectation-maximization algorithm

Background Population genetics and association studies usually rely on a set of known variable sites that are then genotyped in subsequent samples, because it is easier to genotype than to discover the variation. This is also true for structural variation detected from sequence data. However, the genotypes at known variable sites can only be inferred with uncertainty from low coverage data. Thus, statistical approaches that infer genotype likelihoods, test hypotheses, and estimate population parameters without requiring accurate genotypes are becoming popular. Unfortunately, the current implementations of these methods are intended to analyse only single nucleotide and short indel variation, and they usually assume that the two alleles in a heterozygous individual are sampled with equal probability. This is generally false for structural variants detected with paired ends or split reads. Therefore, the population genetics of structural variants cannot be studied, unless a painstaking and potentially biased genotyping is performed first. Results We present svgem, an expectation-maximization implementation to estimate allele and genotype frequencies, calculate genotype posterior probabilities, and test for Hardy-Weinberg equilibrium and for population differences, from the numbers of times the alleles are observed in each individual. Although applicable to single nucleotide variation, it aims at bi-allelic structural variation of any type, observed by either split reads or paired ends, with arbitrarily high allele sampling bias. We test svgem with simulated and real data from the 1000 Genomes Project. Conclusions svgem makes it possible to use low-coverage sequencing data to study the population distribution of structural variants without having to know their genotypes. Furthermore, this advance allows the combined analysis of structural and nucleotide variation within the same genotype-free statistical framework, thus preventing biases introduced by genotype imputation

Patients with primary immunodeficiencies are a reservoir of poliovirus and a risk to polio eradication

ABSTARCT: Immunodeficiency-associated vaccine-derived polioviruses (iVDPVs) have been isolated from primary immunodeficiency (PID) patients exposed to oral poliovirus vaccine (OPV). Patients may excrete poliovirus strains for months or years; the excreted viruses are frequently highly divergent from the parental OPV and have been shown to be as neurovirulent as wild virus. Thus, these patients represent a potential reservoir for transmission of neurovirulent polioviruses in the post-eradication era. In support of WHO recommendations to better estimate the prevalence of poliovirus excreters among PIDs and characterize genetic evolution of these strains, 635 patients including 570 with primary antibody deficiencies and 65 combined immunodeficiencies were studied from 13 OPV-using countries. Two stool samples were collected over 4 days, tested for enterovirus, and the poliovirus positive samples were sequenced. Thirteen patients (2%) excreted polioviruses, most for less than 2 months following identification of infection. Five (0.8%) were classified as iVDPVs (only in combined immunodeficiencies and mostly poliovirus serotype 2). Non-polio enteroviruses were detected in 30 patients (4.7%). Patients with combined immunodeficiencies had increased risk of delayed poliovirus clearance compared to primary antibody deficiencies. Usually, iVDPV was detected in subjects with combined immunodeficiencies in a short period of time after OPV exposure, most for less than 6 months. Surveillance for poliovirus excretion among PID patients should be reinforced until polio eradication is certified and the use of OPV is stopped. Survival rates among PID patients are improving in lower and middle income countries, and iVDPV excreters are identified more frequently. Antivirals or enhanced immunotherapies presently in development represent the only potential means to manage the treatment of prolonged excreters and the risk they present to the polio endgame. Keywords: Poliovirus eradication, Immunodeficiency-associated vaccine-derived polioviruses, Oral poliovirus vaccine, Humoral immunodeficiency, Combined immunodeficiency, Primary immunodeficienc

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea

Background: In contrast to adult-onset inflammatory bowel disease (IBD), where many genetic loci have been shown to be involved in complex disease etiology, early-onset IBD (eoIBD) and associated syndromes can sometimes present as monogenic conditions. As a result, the clinical phenotype and ideal disease management in these patients often differ from those in adult-onset IBD. However, due to high costs and the complexity of data analysis, high-throughput screening for genetic causes has not yet become a standard part of the diagnostic work-up of eoIBD patients. Methods: We selected 28 genes of interest associated with monogenic IBD and performed targeted panel sequencing in 71 patients diagnosed with eoIBD or early-onset chronic diarrhea to detect causative variants. We compared these results to whole-exome sequencing (WES) data available for 25 of these patients. Results: Target coverage was significantly higher in the targeted gene panel approach compared with WES, whereas the cost of the panel was considerably lower (approximately 25% of WES). Disease-causing variants affecting protein function were identified in 5 patients (7%), located in genes of the IL10 signaling pathway (3), WAS (1), and DKC1 (1). The functional effects of 8 candidate variants in 5 additional patients (7%) are under further investigation. WES did not identify additional causative mutations in 25 patients. Conclusions: Targeted gene panel sequencing is a fast and effective screening method for monogenic causes of eoIBD that should be routinely established in national referral centers.info:eu-repo/semantics/publishedVersio