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Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. We characterize a unique international cohort of 66 patients, including 57 (86%) cases previously unreported, with variable clinical phenotypes. Of 17 distinct CXCR4 genetic variants within our cohort, 11 were novel pathogenic variants affecting 15 individuals (23%). All variants affect the same CXCR4 region and impair CXCR4 internalization resulting in hyperactive signaling. The median age of diagnosis in our cohort (5.5 years) indicates WHIM syndrome can commonly present in childhood, although some patients are not diagnosed until adulthood. The prevalence and mean age of recognition and/or onset of clinical manifestations within our cohort were infections 88%/1.6 years, neutropenia 98%/3.8 years, lymphopenia 88%/5.0 years, and warts 40%/12.1 years. However, we report greater prevalence and variety of autoimmune complications of WHIM syndrome (21.2%) than reported previously. Patients with versus without family history of WHIM syndrome were diagnosed earlier (22%, average age 1.3 years versus 78%, average age 5 years, respectively). Patients with a family history of WHIM syndrome also received earlier treatment, experienced less hospitalization, and had less end-organ damage. This observation reinforces previous reports that early treatment for WHIM syndrome improves outcomes. Only one patient died; death was attributed to complications of hematopoietic stem cell transplantation. The variable expressivity of WHIM syndrome in pediatric patients delays their diagnosis and therapy. Early-onset bacterial infections with severe neutropenia and/or lymphopenia should prompt genetic testing for WHIM syndrome, even in the absence of warts.

Here we present a magnetic thin film with a weak ferrimagnetic (FIM) phase above the N\'eel temperature ($T_{N}$ = 240 K) and a non-collinear antiferromagnetic (AFM) phase below, exhibiting a small net magnetisation due to strain-associated canting of the magnetic moments. A long-range ordered FIM phase has been predicted in related materials, but without symmetry analysis. We now perform this analysis and use it to calculate the MOKE spectra in AFM and FIM phases. From the good agreement between the form of the measured and predicted MOKE spectra, we propose the AFM and FIM phases share the magnetic space group C2'/m' and that the symmetry driven magneto-optic and magneto-transport properties are maximised at room temperature in the FIM phase due to the non-zero intrinsic Berry phase contribution present in these materials. A room temperature FIM phase with large optical and transport signatures, as well as sensitivity to lattice strain and magnetic field, has useful prospects for high-speed spintronic applications., Comment: 21 pages 4 figures 1 table 4 supplementary figures 1 supplementary table Co-first author: F. Johnson and J. Z\'azvorka Corresponding authors: L. F. Cohen and M. Veis; Typos corrected and discussion of symmetry added; title changed to be concise; text on figures made larger

We consider firms with privately-known production efficiencies, captured in their cost structure, bidding for a road concession agreement with a government seeking to maximize the expected public welfare generated by the project. The setting is motivated by the increasing trend in road privatization around the world, and the need to design auctions leading to efficient outcomes: firm selection, government payments, toll and capacity schedules, which determine public welfare and firm profits. In this paper, we characterize optimal direct revelation mechanisms for cases with and without restrictions on government payments. Because, in practice, it may be difficult or unappealing for firms to reveal their cost structure, we derive a scoring function that allows for the implementation of the optimal mechanism as a first-score auction where bids consist of toll, capacity, and government payment levels. The function accounts for distortions stemming from firms’ incentives to exploit their private information. We use the results to benchmark the performance of simple, but sub-optimal mechanisms: (i) predetermined toll and capacity bidding, (ii) auctions where the public welfare function is used to score bids, and (iii) a demand pricing mechanism aimed at maximizing patronage.

The Northwestern University Freight Rail Infrastructure & Energy Network Decarbonization (NUFRIEND) framework is a comprehensive industry-oriented tool for simulating the deployment of new energy technologies including biofuels, e-fuels, battery-electric, and hydrogen locomotives. By classifying fuel types into two categories based on deployment requirements, the associated optimal charging/fueling facility location and sizing problem are solved with a five-step framework. Life-cycle analysis (LCA) and techno-economic analysis (TEA) are used to estimate carbon reduction, capital investments, cost of carbon reduction, and operational impacts, enabling sensitivity analysis with operational and technological parameters. The framework is illustrated on lower-carbon drop-in fuels as well as battery-electric technology deployments for the US Eastern and Western Class I railroad networks. Drop-in fuel deployments are modeled as admixtures with diesel in existing locomotives, while battery-electric deployments are shown for varying technology penetration levels and locomotive ranges. When mixed in a 50% ratio with diesel, results show biodiesel’s capacity to reduce emissions at 36% with a cost of $ 0.13 per kilogram of CO2 reduced, while e-fuels offer a potential reduction of 50% of emissions at a cost of $ 0.22 per kilogram of CO2 reduced. Battery-electric results for 50% deployment over all ton-miles highlight the value of future innovations in battery energy densities as scenarios assuming 800-mi range locomotives show an estimated emissions reduction of 46% with a cost of $ 0.06 per kilogram of CO2 reduced, compared with 16% emissions reduction at a cost of $ 0.11 per kilogram of CO2 reduced for 400-mi range locomotives. The NUFRIEND framework provides a systematic method for comparing different alternative energy technologies and identifying potential challenges and benefits in their future deployments.

The intrinsic anomalous Nernst effect in a magnetic material is governed by the Berry curvature at the Fermi energy and can be realized in non-collinear antiferromagnets with vanishing magnetization. Thin films of (001)-oriented Mn$_{3}$NiN have their chiral antiferromagnetic structure located in the (111) plane facilitating the anomalous Nernst effect unusually in two orthogonal in-plane directions. The sign of each component of the anomalous Nernst effect is determined by the local antiferromagnetic domain state. In this work, a temperature gradient is induced in a 50 nm thick Mn$_{3}$NiN two micron-size Hall cross by a focused scanning laser beam, and the spatial distribution of the anomalous Nernst voltage is used to image and identify the octupole macrodomain arrangement. Although the focused laser beam width may span many individual domains, cooling from room temperature through the antiferromagnetic transition temperature in an in-plane magnetic field prepares the domain state producing a checkerboard pattern resulting from the convolution of contributions from each domain. These images together with atomistic and micromagnetic simulations suggest an average macrodomain of the order of $1 {\mu}m^{2}$., Comment: 25 pages 4 figures, 6 supplementary figures F.J. and J.K. both contributed equally to this manuscript. The following article has been accepted by Applied Physics Letters. After it is published, it will be found at https://aip.scitation.org/journal/apl

Background: Researchers have called for more investigation into disordered eating behaviors in females with scoliosis. Objective: The objective of the current study was to assess the associations between body image concerns, disease-specific indicators of scoliosis (ie, age of diagnosis, having undergone bracing treatment, being told by a physician your scoliosis required surgery, having a spinal fusion), quality of life, and disordered eating in a sample of young adult women diagnosed with idiopathic scoliosis during adolescence. Design: This study was cross-sectional in design. Methods: Participants were 177 young adult women ages 18 to 30 years diagnosed with idiopathic scoliosis by a physician who completed questionnaires online. Results: Undergoing bracing treatment ( r = −.440; P Conclusions: These findings underscore the importance of assessing body image concerns in young adult women with scoliosis experiencing disordered eating as this information may provide valuable information relevant to treatment planning.

Objective: This study examined the correlations between receiving care in patient-centered medical home and maternal reports of their mental health and parenting stress in a national sample of mothers of children with autism spectrum disorder (ASD). Method: Participants were 1108 mothers of children with ASD (average age = 10.6 years; 81% male) from the 2011-2012 National Survey of Children’s Health. Multiple linear regression analysis and polynomial logistic regression analysis were used to evaluate if having a child with ASD cared for in a patient-centered medical home was significantly associated with maternal reports of their parenting stress and mental health. We also assessed whether 5 indicators of the American Academy of Pediatrics medical home definition were differentially associated with maternal outcomes. Results: Receiving care in a patient-centered medical home was associated with maternal reports of less parenting stress (standardized β = −0.201; P < .001) and better mental health (odds ratios range from 0.204 to 0.360; P < .001) after controlling for sociodemographic variables. Of the 5 indicators of the medical home definition, only effective care coordination was significantly associated with maternal perceptions of their parenting stress and mental health. Conclusion: Future longitudinal studies are needed to assess the temporal associations between patient-centered medical home status and maternal perceptions of their mental health and parenting stress in mothers of children with ASD.

Background Mothers of children with diabetes are at-risk for experiencing parenting stress and diminished mental/emotional health. To the best of our knowledge, no studies to date have examined whether there are differences in these outcomes between mothers whose diabetic child is managed in a patient-centred medical home or not. Objective The objective of the present study was to assess whether there were differences in mental health and parenting stress among mothers whose diabetic child was managed in a patient-centred medical home or not. Methods Two hundred fifty-three mothers of children with diabetes (mean age = 12.50 years; SD = 3.90) from the 2011–2012 National Survey of Children’s Health were included in this study. Hierarchical multiple regression was conducted to determine the amount of variance that having a patient-centred medical home contributed to maternal emotional/mental health and parenting stress. Results After controlling for child sex, age, race/ethnicity and family poverty level, patient-centred medical home status was associated with better mental health for mothers and less parenting stress. Effective care coordination was the only subcomponent of the patient-centred medical home that significantly contributed to the variance in mother’s mental/emotional health and parenting stress. Conclusions Receiving care in a patient-centred medical home, particularly the care coordination component, may mitigate some of the negative maternal effects of managing a child’s diabetes.

We analyze the evolution of the spatial distribution of ridership in Chicago's Elevated Train over the last two decades, by means of station-level average daily passenger entries and census data to establish links between ridership changes and urban processes. Overall, we observe that 2007–2008 ridership was slightly below 1989–1990 levels, but recovering since the late 1990s. Ridership gains have shown a strong tendency to concentrate within a 10 km radius from the CBD. Outside of this area, losses since 1989–1990 have been steady. The ridership recovery and its spatial distribution appear, therefore, to be related to an acceleration of urban processes, i.e., gentrification, immigration, employment concentration in the CBD.

Males have largely been underrepresented in the eating disorder (ED) peer-reviewed literature. The current review paper examines prevalence rates, ED symptom presentation, and assessment and treatment strategies relevant to adolescent and young adult males. Adolescent and young adult males often report a greater desire to be bigger and more muscular compared to their female counterparts. Due to concerns that contemporary ED assessment tools are over reliant on items that evaluate stereotypically feminine indicators of ED pathology, male-specific ED measures, such as the Eating Disorder Assessment for Men, have been developed. Further validation work is necessary to establish the psychometric properties of these male-specific measures, particularly in adolescent male populations. Attention to a heightened prevalence of comorbid substance abuse disorders and the role that competitive sports play in perpetuating ED pathology are two factors that have been identified as important in the treatment of adolescent and young adult males with EDs.

The development of a systematic framework to support the design of transit bus fleets is justified by the significant and long-lasting implications associated with decisions to purchase transit vehicles, as well as by developments in fuel propulsion and battery technologies over the last 2 decades that have increased the options available to transit operators, and, in turn, the complexity of assessing the corresponding tradeoffs. The need to evaluate these tradeoffs is, in part, driven by the emergence of environmental impact mitigation, i.e., emissions reductions, as a critical concern of transit operators and governments around the world. To address these concerns, we present an optimization model to support the design of transit bus fleets while accounting for costs, level-of-service requirements, and environmental impact. Methodologically, the work bridges applications of Economic Input-Output analysis to conduct environmental lifecycle assessment, with seminal work in production economics. We apply the framework to support design of bus fleets consisting of 4 bus types differing in their fuel-propulsion technology: ultra-low sulfur diesel, hybrid diesel-electric, compressed natural gas, and hydrogen fuel-cell. The 4 bus types were assessed in the National Renewable Energy Laboratory transit bus evaluation and demonstration studies conducted over the period 2003-2009. The nominal problem herein is to minimize acquisition, operation and disposal costs. Constraints in the model are used to impose a minimum frequency of service, i.e., headway, and to ensure that route capacity satisfies passenger demand. Environmental impact is considered along the following dimensions: energy consumption, and emissions of greenhouse gasses, particulate matter, and nitrous oxides. Results show that fleet heterogeneity increases in scenarios where demand fluctuates, i.e., peak vs. off-peak. Perhaps even more interesting, we show how the dual/shadow prices provide a (monetary) measure of the tradeoffs among level of service and environmental impact, and discuss how they can be used to obtain robust fleet configurations.

Despite its widespread use, a minimal amount is known regarding the agreement between parent and youth ratings of youth's executive functioning on the Behavior Rating Inventory of Executive Functioning (BRIEF) in typically developing youth. The present study examined parent-child agreement on the BRIEF with a community sample of adolescents and their parents. Ninety-seven parent-child dyads (

Background: Studies that have evaluated executive functions and dietary behaviors in school-aged children have found that deficits in executive functions are correlated with greater intake of high-caloric-low-nutritional foods and snacks and lower consumption of fruits and vegetables. However, since these studies analyzed executive functioning as a unidimensional outcome variable, the correlations between dietary behaviors and specific domains of executive functioning were not evaluated. The objective of the present study was to assess the associations between dietary behaviors and three domains of executive functioning (i.e., inhibition, working memory, planning/initiation skills) in a sample of school-aged children. Methods: In this cross-sectional study, one-hundred-two, 8th grade students from a public middle school in the United States (mean age = 13.91; SD = 0.51; 62.7% female) completed a demographic questionnaire, a self-report measure of executive functioning (Behavior rating inventory of executive function-BRIEF), and self-report measures of dietary behaviors (adolescent food habits checklist, diet subscale of the summary of diabetes self-care activities questionnaire). Their parents completed the parent version of the BRIEF. Pearson correlations and multiple linear regression analysis were conducted. Results: After controlling demographic factors (e.g., gender, race/ethnicity, parent education), self-reported planning/initiation skills were associated with healthier eating habits (unstandardized estimate = -0.16; P < 0.01). Conclusions: These findings underscore the need for research evaluating the efficacy of techniques like implementation intentions that target planning/initiation skills in order to increase the consumption of healthy foods in school-aged children.

We study the effect of proton irradiation on Ba(Fe$_{0.96}$Co$_{0.04}$)$_2$As$_2$ superconducting single crystals from combined magnetisation and magnetoresistivity measurements. The study allows the extraction of the values of the apparent pinning energy $U_0$ of the samples prior to and after irradiation, as well as comparison of the values of $U_0$ obtained from the flux-flow reversible region with those from the flux-creep irreversible region. Irradiation reduces $T_c$ modestly, but significantly reduces $U_0$ in both regimes: the critical current density $J_c$ is modified, most strikingly by the disappearance of the second magnetisation peak after irradiation. Analysis of the functional form of the pinning force and of the temperature dependence of $J_c$ for zero field, indicates that proton irradiation in this case has not changed the pinning regime, but has introduced a high density of shallow point-like defects. By consideration of a model that takes into account the effect of disorder on the irreversibility line, the data suggests that irradiation produced a considerable reduction in the average effective disorder overall, consistent with the changes observed in $U_0$ and $J_c$., 5 pages 7 figures