Universal probes of two-dimensional topological insulators: Dislocation and pi-flux

We show that the pi-flux and the dislocation represent topological observables that probe two-dimensional topological order through binding of the zero-energy modes. We analytically demonstrate that pi-flux hosts a Kramers pair of zero modes in the topological Gamma (Berry phase skyrmion at the zero momentum) and M (Berry phase skyrmion at a finite momentum) phases of the M-B model introduced for the HgTe quantum spin Hall insulator. Furthermore, we analytically show that the dislocation acts as a pi-flux, but only so in the M phase. Our numerical analysis confirms this through a Kramers pair of zero modes bound to a dislocation appearing in the M phase only, and further demonstrates the robustness of the modes to disorder and the Rashba coupling. Finally, we conjecture that by studying the zero modes bound to dislocations all translationally distinguishable two-dimensional topological band insulators can be classified.Comment: 5 pages, 2 figures; version accepted in Physical Review Letter

Reliability of the Q Force; a mobile instrument for measuring isometric quadriceps muscle strength

BACKGROUND: The ability to generate muscle strength is a pre-requisite for all human movement. Decreased quadriceps muscle strength is frequently observed in older adults and is associated with a decreased performance and activity limitations. To quantify the quadriceps muscle strength and to monitor changes over time, instruments and procedures with a sufficient reliability are needed. The Q Force is an innovative mobile muscle strength measurement instrument suitable to measure in various degrees of extension. Measurements between 110 and 130° extension present the highest values and the most significant increase after training. The objective of this study is to determine the test-retest reliability of muscle strength measurements by the Q Force in older adults in 110° extension. METHODS: Forty-one healthy older adults, 13 males and 28 females were included in the study. Mean (SD) age was 81.9 (4.89) years. Isometric muscle strength of the Quadriceps muscle was assessed with the Q Force at 110° of knee extension. Participants were measured at two sessions with a three to eight day interval between sessions. To determine relative reliability, the intraclass correlation coefficient (ICC) was calculated. To determine absolute reliability, Bland and Altman Limits of Agreement (LOA) were calculated and t-tests were performed. RESULTS: Relative reliability of the Q Force is good to excellent as all ICC coefficients are higher than 0.75. Generally a large 95 % LOA, reflecting only moderate absolute reliability, is found as exemplified for the peak torque left leg of -18.6 N to 33.8 N and the right leg of -9.2 N to 26.4 N was between 15.7 and 23.6 Newton representing 25.2 % to 39.9 % of the size of the mean. Small systematic differences in mean were found between measurement session 1 and 2. CONCLUSION: The present study shows that the Q Force has excellent relative test-retest reliability, but limited absolute test-retest reliability. Since the Q Force is relatively cheap and mobile it is suitable for application in various clinical settings, however, its capability to detect changes in muscle force over time is limited but comparable to existing instruments

The space group classification of topological band insulators

Topological band insulators (TBIs) are bulk insulating materials which feature topologically protected metallic states on their boundary. The existing classification departs from time-reversal symmetry, but the role of the crystal lattice symmetries in the physics of these topological states remained elusive. Here we provide the classification of TBIs protected not only by time-reversal, but also by crystalline symmetries. We find three broad classes of topological states: (a) Gamma-states robust against general time-reversal invariant perturbations; (b) Translationally-active states protected from elastic scattering, but susceptible to topological crystalline disorder; (c) Valley topological insulators sensitive to the effects of non-topological and crystalline disorder. These three classes give rise to 18 different two-dimensional, and, at least 70 three-dimensional TBIs, opening up a route for the systematic search for new types of TBIs.Comment: Accepted in Nature Physic

High-throughput CRISPRi phenotyping identifies new essential genes in Streptococcus pneumoniae.

Genome-wide screens have discovered a large set of essential genes in the opportunistic human pathogen <i>Streptococcus pneumoniae</i> However, the functions of many essential genes are still unknown, hampering vaccine development and drug discovery. Based on results from transposon sequencing (Tn-seq), we refined the list of essential genes in <i>S. pneumoniae</i> serotype 2 strain D39. Next, we created a knockdown library targeting 348 potentially essential genes by CRISPR interference (CRISPRi) and show a growth phenotype for 254 of them (73%). Using high-content microscopy screening, we searched for essential genes of unknown function with clear phenotypes in cell morphology upon CRISPRi-based depletion. We show that SPD_1416 and SPD_1417 (renamed to MurT and GatD, respectively) are essential for peptidoglycan synthesis, and that SPD_1198 and SPD_1197 (renamed to TarP and TarQ, respectively) are responsible for the polymerization of teichoic acid (TA) precursors. This knowledge enabled us to reconstruct the unique pneumococcal TA biosynthetic pathway. CRISPRi was also employed to unravel the role of the essential Clp-proteolytic system in regulation of competence development, and we show that ClpX is the essential ATPase responsible for ClpP-dependent repression of competence. The CRISPRi library provides a valuable tool for characterization of pneumococcal genes and pathways and revealed several promising antibiotic targets

Fat Mass and Obesity-Associated Gene (FTO) in Eating Disorders: Evidence for Association of the rs9939609 Obesity Risk Allele with Bulimia nervosa and Anorexia nervosa

Objective: The common single nucleotide polymorphism (SNP) rs9939609 in the fat mass and obesity-associated gene (FTO) is associated with obesity. As genetic variants associated with weight regulation might also be implicated in the etiology of eating disorders, we evaluated whether SNP rs9939609 is associated with bulimia nervosa (BN) and anorexia nervosa (AN). Methods: Association of rs9939609 with BN and AN was assessed in 689 patients with AN, 477 patients with BN, 984 healthy non-population-based controls, and 3,951 population-based controls (KORA-S4). Based on the familial and premorbid occurrence of obesity in patients with BN, we hypothesized an association of the obesity risk A-allele with BN. Results: In accordance with our hypothesis, we observed evidence for association of the rs9939609 A-allele with BN when compared to the non-population-based controls (unadjusted odds ratio (OR) = 1.142, one-sided 95% confidence interval (CI) 1.001-infinity; one-sided p = 0.049) and a trend in the population-based controls (OR = 1.124, one-sided 95% CI 0.932-infinity; one-sided p = 0.056). Interestingly, compared to both control groups, we further detected a nominal association of the rs9939609 A-allele to AN (OR = 1.181, 95% CI 1.027-1.359, two-sided p = 0.020 or OR = 1.673, 95% CI 1.101-2.541, two-sided p = 0.015,). Conclusion: Our data suggest that the obesity-predisposing FTO allele might be relevant in both AN and BN. Copyright (C) 2012 S. Karger GmbH, Freibur

Flood Vulnerability Models and Household Flood Damage Mitigation Measures: An Econometric Analysis of Survey Data

Flood events are expected to increase in their frequency and severity, which results in higher flood risk without additional adaptation measures. The information gained from flood risk models is essential in effective disaster risk management. However, vulnerability estimations are often a large driver of uncertainty, and flood damage is rarely estimated due to a lack of empirical damage data from flood events. This study uses a unique data set with experienced damages and the implementation of flood damage mitigation (FDM) measures on the household level, collected after the flood event in the Netherlands in 2021. Flood damage models that control for several hazard, exposure, and vulnerability indicators are estimated and allow for additional input in flood risk models. Previous estimates of the effectiveness of FDM measures are prone to a selection bias, as households that do, and do not implement FDM measures systematically differ in their risk profiles. By using an instrumental variable-estimation, this study overcomes this selection bias and finds significant reductions in flood damage due to FDM measures. These reductions can be incorporated in multivariate flood vulnerability estimations, which indicate that FDM measures significantly reduce flood damage. Providing information on flood hazard, as well as implementing early warning systems, is crucial for ensuring effective flood risk management

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

Smith-Magenis syndrome (SMS) is a complex syndrome involving intellectual disabilities, sleep disturbance, behavioural problems, and a variety of craniofacial, skeletal, and visceral anomalies. While the majority of SMS cases harbor an ~3.5 Mb common deletion on 17p11.2 that encompasses the retinoic acid induced-1 (RAI1) gene, some patients carry small intragenic deletions or point mutations in RAI1. We present data on two cases of Smith-Magenis syndrome with mutation of RAI1. Both cases are phenotypically consistent with SMS and RAI1 mutation but also have other anomalies not previously reported in SMS, including spontaneous pneumothoraces. These cases also illustrate variability in the SMS phenotype not previously shown for RAI1 mutation cases, including hearing loss, absence of self-abusive behaviours, and mild global delays. Sequencing of RAI1 revealed mutation of the same heptameric C-tract (CCCCCCC) in exon 3 in both cases (c.3103delC one case and and c.3103insC in the other), resulting in frameshift mutations. Of the seven reported frameshift mutations occurring in poly C-tracts in RAI1, four cases (~57%) occur at this heptameric C-tract. Collectively, these results indicate that this heptameric C-tract is a preferential hotspot for single nucleotide insertion/deletions (SNindels) and therefore, should be considered a primary target for analysis in patients suspected for mutations in RAI1. We expect that as more patients are sequenced for mutations in RAI1, the incidence of frameshift mutations in this hotspot will become more evident

Haplotype Estimation from Fuzzy Genotypes Using Penalized Likelihood

The Composite Link Model is a generalization of the generalized linear model in which expected values of observed counts are constructed as a sum of generalized linear components. When combined with penalized likelihood, it provides a powerful and elegant way to estimate haplotype probabilities from observed genotypes. Uncertain (“fuzzy”) genotypes, like those resulting from AFLP scores, can be handled by adding an extra layer to the model. We describe the model and the estimation algorithm. We apply it to a data set of accurate human single nucleotide polymorphism (SNP) and to a data set of fuzzy tomato AFLP scores

Geographic variation in the community structure of lice on western scrub-jays

ABSTRACT: Parasites are incredibly diverse. An important factor in the evolution of this diversity is the fact that many parasite species are restricted to 1, or just a few, host species. In addition, some parasites exhibit geographic specificity that is nested within their specificity to a particular species of host. The environmental factors that restrict parasites to particular regions within the host's range are poorly understood, and it is often difficult to know whether such patterns of geographic specificity are real, or merely artifacts of uneven host sampling. For over a decade, we sampled communities of ectoparasitic lice (Phthiraptera) from western scrub-jays (Aphelocoma californica) throughout their range in the United States, and found 3 common species of lice. Philopterus crassipes was found throughout the host range, whereas the other 2 species of lice had more restricted distributions. Brueelia deficiens was found only on the woodhouseii host subspecies group, and Myrsidea sp. was found largely on the californica host subspecies group. We suggest that differential tolerance to arid conditions and interspecific competition has led to the restricted geographic distributions of these 2 species of lice