Miracle-dz/UniFAR-FTUs huggingface dataset:
High Resolution DNA Typing of Human Leukocyte Antigen A29 in Familial Birdshot Chorioretinopathy

ABSTRACT Purpose: To describe high-resolution DNA typing of HLA-A29 in patients with familial birdshot chorioretinopathy (BSCR). Methods: A retrospective clinical chart review was performed of all patients at the Francis I. Proctor Foundation with BSCR with a documented family history of HLA-A29 positive BSCR. High-resolution HLA-A29 typing was performed for these patients. Results: Two families with familial BSCR were identified. Family 1 consisted of a mother, daughter and maternal aunt with BSCR. All were positive for the HLA-A29*02 allele. Family 2 consisted of two sisters with BSCR who were both positive for the HLA-A29*02 allele. Conclusions: Familial BSCR is rare and we report the high-resolution DNA typing of HLA-A29 in two families with familial BSCR and their associated clinical outcomes, including the first documented case of multigenerational BSCR.
Growth in Infants and Children with Intestinal Failure Associated-Liver Disease Treated with Intravenous Fish Oil.

BACKGROUND Infants with intestinal failure (IF) and IF-associated-liver disease (IFALD) are at risk for poor somatic growth due to increased metabolic demands, inadequate intake, intestinal malabsorption, chronic liver disease and other co-morbidities. There are limited data on the nutritional adequacy of intravenous fish oil lipid emulsion (FOLE) compared with standard soybean oil lipid emulsion (SOLE) in the setting of intestinal failure. AIMS To describe growth patterns in a large cohort of infants with IFALD treated with FOLE. METHODS We compared growth data from infants enrolled in a single center, prospective FOLE study to published norms, as well as to a multicenter, historical cohort of infants with IF treated with SOLE. RESULTS 138 infants with IFALD were treated with FOLE and 108 with SOLE. Compared to normative growth curves from WHO and published pre-term data, infants in both groups from 6 to 11 months post-menstrual age exhibited declines in mean weight- and length-for-age Z-scores. At 24 months post-menstrual age compared with WHO growth data, infants treated with FOLE had a mean (95% confidence interval) weight-for-age Z-score of 0.13 (-0.18, 0.45) and length-for-age Z-score of 0.07 (-0.33, 0.47). In comparison, at 24 months post-menstrual age, infants treated with SOLE had a mean weight for age Z-score of -0.93 (-1.20, -0.67) and mean length for age Z-score of -2.33 (-2.75, -1.91). Independent predictors of higher weight, length and head circumference Z-scores included older post-menstrual age at baseline, fewer central line-associated blood stream infections, resolution of cholestasis, type of intravenous fat emulsion (FOLE vs. SOLE) and female sex. CONCLUSIONS Infants with IFALD treated with FOLE showed comparable somatic growth to those treated with SOLE in early infancy, and improved somatic growth up to 24 months of age, supporting its wider use in this patient population.
Cooperation with autonomous machines through culture and emotion

As machines that act autonomously on behalf of others–e.g., robots–become integral to society, it is critical we understand the impact on human decision-making. Here we show that people readily engage in social categorization distinguishing humans (“us”) from machines (“them”), which leads to reduced cooperation with machines. However, we show that a simple cultural cue–the ethnicity of the machine’s virtual face–mitigated this bias for participants from two distinct cultures (Japan and United States). We further show that situational cues of affiliative intent–namely, expressions of emotion–overrode expectations of coalition alliances from social categories: When machines were from a different culture, participants showed the usual bias when competitive emotion was shown (e.g., joy following exploitation); in contrast, participants cooperated just as much with humans as machines that expressed cooperative emotion (e.g., joy following cooperation). These findings reveal a path for increasing cooperation in society through autonomous machines.
Use of the Progressive Return to Activity Guidelines May Expedite Symptom Resolution After Concussion for Active Duty Military

Background: Clinical recommendations for concussion management encourage reduced cognitive and physical activities immediately after injury, with graded increases in activity as symptoms resolve. Empirical support for the effectiveness of such recommendations is needed. Purpose: To examine whether training medical providers on the Defense and Veterans Brain Injury Center’s Progressive Return to Activity Clinical Recommendation (PRA-CR) for acute concussion improves patient outcomes. Study Design: Cohort study; Level of evidence, 2. Methods: This study was conducted from 2016 to 2018 and compared patient outcomes before and after medical providers received an educational intervention (ie, provider training). Patients, recruited either before or after intervention, were assessed at ≤72 hours, 1 week, 1 month, 3 months, and 6 months after a concussion. The participant population included 38 military medical providers and 106 military servicemembers with a diagnosed concussion and treated by one of the military medical providers: 58 patient participants received care before the intervention (ie, provider training) and 48 received care after intervention. The primary outcome measure was the Neurobehavioral Symptom Inventory. Results: The patients seen before and after the intervention were predominantly male (89.7% and 93.8%, respectively) of military age (mean ± SD, 26.62 ± 6.29 years and 25.08 ± 6.85 years, respectively) and a mean ± SD of 1.92 ± 0.88 days from injury. Compared with patients receiving care before intervention, patients receiving care after intervention had smaller increases in physical activities (difference in mean change; 95% CI, 0.39 to 6.79) and vestibular/balance activities (95% CI, 0.79 to 7.5) during the first week of recovery. Although groups did not differ in symptoms at ≤72 hours of injury (d = 0.22; 95% CI, –2.21 to 8.07), the postintervention group reported fewer symptoms at 1 week (d = 0.61; 95% CI, 0.52 to 10.92). Postintervention patients who completed the 6-month study had improved recovery both at 1 month (d = 1.55; 95% CI, 5.33 to 15.39) and 3 months after injury (d = 1.10; 95% CI, 2.36 to 11.55), but not at 6 months (d = 0.35; 95% CI, 5.34 to 7.59). Conclusion: Training medical providers on the PRA-CR for management of concussion resulted in expedited recovery of patients.
C O ] 4 D ec 2 01 7 Rationality For Subclasses of 321-Avoiding Permutations

We prove that every proper subclass of the 321-avoiding permutations that is defined either by only finitely many additional restrictions or is well-quasi-ordered has a rational generating function. To do so we show that any such class is in bijective correspondence with a regular language. The proof makes significant use of formal languages and of a host of encodings, including a new mapping called the panel encoding that maps languages over the infinite alphabet of positive integers avoiding certain subwords to languages over finite alphabets.
Morphological and geographic variation of Pseudophryne Corroboree (Anura: Leptodactylidae)

The toadlet Pseudophryne corroboree is confined to the mountains of southeastern New South Wales and the Australian Capital Territory. The first detailed distribution map is presented. The species ranges from Mt Kosciusco in the south to the Brindabella Range near Canberra in the north. The Brindabella Range populations are isolated from those in the south. The species has not been found below 1,040 m. Its range may, in part, be limited by competitive interactions with the closely related P. dendyi.
Developmental cascades from child maltreatment to negative friend and romantic interactions in emerging adulthood

Abstract Maltreatment during childhood is associated with difficult interpersonal relationships throughout the life course. The aim of the current study was to investigate differential pathways from child maltreatment to emerging adult relationship dysfunction. Specifically, we prospectively tested whether child maltreatment initiates a developmental cascade resulting in coercive negative romantic and friend interactions in emerging adulthood via childhood antisocial tendencies and via childhood relational aggression. Utilizing a longitudinal sample of emerging adult participants (N = 392; mean age = 20 years old) who took part in a summer research camp program as children (mean age = 11 years old), results supported pathways via both childhood antisocial behavior and childhood relational aggression. We found specificity within these pathways such that childhood antisocial behavior was a mediator of child maltreatment effects on emerging adult negative romantic interactions, whereas childhood relational aggression was a mediator of child maltreatment effects on emerging adult negative friend interactions. Taken together, results indicate that children exposed to maltreatment face significant interpersonal challenges in emerging adulthood, within both the friend and the romantic domains, and point to distinct childhood pathways to these negative interactions. Our findings are consistent with Dishion's (2016) theoretical framework for understanding the development of coercion in relationships and highlight the criticality of early intervention with maltreating families.
Immune Checkpoint PD-1/PD-L1 CTLA-4/CD80 are Blocked by Rhus verniciflua Stokes and its Active Compounds

The bark of Rhus verniciflua Stokes (RVS) has been used to treat cancer in Korean herbal medicine. When we screened for PD-1 and CTLA-4 immune checkpoint inhibitors (PD-1/PD-L1 CTLA-4/CD80) from around 800 herbal extracts using competitive Enzyme-Linked Immunosorbent Assay (ELISA), we found that RVS blocked both the PD-1/PD-L1 and the CTLA-4/CD80 interactions. To identify the active compounds from RVS, we performed bioactivity-guided fractionation, and the ethyl acetate (EtOAc) fraction of RVS proved to be the most effective at blocking the PD-1/PD-L1 and CTLA-4/CD80 interactions. In addition, we isolated and identified 20 major compounds in the EtOAc fraction of RVS and then examined the blocking effects of these 20 compounds on PD-1/PD-L1 and CTLA-4/CD80. Among them, four compounds [eriodictyol (7) > fisetin (9) > quercetin (18) > liquiritigenin (13)] blocked the interaction of PD-1/PD-L1 on competitive ELISA. In addition, four different compounds [protocatechuic acid (2) > caffeic acid (19) > taxifolin (5) > butin (6)] blocked the interaction of CTLA-4/CD80. Our findings suggest that RVS and its components could be used as a potential immune checkpoint inhibitor blockade and could be developed for immuno-oncological therapeutics.
Determination of a Model Regarding Customer Satisfaction Perception for Textile Consumers

Since customer satisfaction (CS) is crucial for the textile industry, the purpose of this research is determination of the factors influencing CS in the textile industry, creation of a CS model and offering solution suggestions for improving CS. CS is a comprehensive and detailed subject influenced by various factors however; in this study perceived service quality, perceived product quality, brand image and perceived value are considered as the factors that influence CS. After the consumer survey was applied on survey respondents and the data gained from the questionnaires was inserted in SPSS program, the data was analyzed statistically to determine the factors influencing CS. In the light of the information gained after the analysis process, solution suggestions to the problems that the textile industry faces were expressed and the effects of this research to the textile industry and literature were described.
Studies into Beam Loss Patterns at European Spallation Source

The linear accelerator of European Spallation Source will produce 5 MW proton beam. Beam of this power will likely generate significant losses along the beamline. To study these losses, a coherent model of the whole machine is being made using custom generator. This model is used to perform Monte Carlo simulations of the propagation of the accelerated beam and the losses in the MARS code system. Preliminary simulations utilizing the uniform beam loss distribution were done. More detailed simulations based on the various different loss patterns focused around hot spots in magnets were also performed and their results compared. This confirmed the limit of 0.5 W/m average heat load on accelerating cavities foreseen by the cooling requirements. Additional studies investigated the dose absorbed by fragile cooling system’s elements during the normal operation of the facility defining their radiation resistance to the levels of few kGy/y. Further simulations will also give the information about the expected beam loss detectors signal at possible locations. These data will be further analysed using custom algorithms.
Numerical modelling of Air Core in Hydrocyclones

Numerical simulations of the flow through a 75mm diameter hydrocyclone were used to investigate the different approaches for the air core diameter predictions. Single phase and multiphase approaches were explored. The saturation pressure of water was used to predict the air core for the single phase simulations. Two turbulence models, Reynolds Stress Model (RSM), and Large Eddy Simulation (LES), were compared, both of which yielded good agreement within an average difference of 8.8% and 6%, respectively. The influence of the multiphase approach on the numerical predictions was also investigated by comparing the Volume of Fluid (VOF) and the mixture model. The VOF model was found to fit the experimental data slightly better than the mixture model within an average difference of 2.9%. Overall, the results showed that the choice of multiphase approach and the turbulence model in the CFD modelling of the air core can improve the numerical predictions.
Study of toll-like receptor 4 in type 2 diabetic patients with or without nephropathy

Objective The aim of this work was to study the role of toll-like receptor 4 (TLR4) in the development of type 2 diabetes mellitus (T2DM) as well as its relation to the occurrence of diabetic nephropathy. Background Chronic kidney disease is one of the major complications of T2DM and is the leading cause of end-stage renal disease. There is growing evidence indicating that chronic low-grade inflammatory response is a recognized factor in the pathogenesis and progression of diabetic renal injury. Patients and methods A total of 50 T2DM patients were divided into three groups according to urinary albumin excretion: those with normoalbuminuria, those with microalbuminuria, and those with macroalbuminuria. In addition, 10 apparently healthy individuals were included as a control group. Fasting blood glucose, glycated hemoglobin, blood urea, and serum creatinine were measured in all patients. Urinary albumin excretion was measured using a morning spot urine sample and the urinary albumin/creatinine ratio was calculated. Quantification of CD14 and TLR4 expression on monocyte subsets was performed by means of flow cytometry. Results Levels of CD14 were found to be significantly increased in patients with macroalbuminuria, whereas TLR4 levels were increased in T2DM patients, with further elevation in patients with macroalbuminuria. Both markers showed significant positive correlations with the duration of diabetes, glycated hemoglobin, serum creatinine, and urinary albumin/creatinine ratio and significant negative correlations with estimated glomerular filtration rate. Multivariate regression analysis demonstrated that CD14 and TLR4 are independent predictors of the occurrence of microalbuminuria in T2DM patients. Conclusion TLR4 levels were higher in T2DM patients compared with normal individuals. These observations significantly add to the emerging role of TLRs in T2DM development. TLR4 was also found to correlate well with the severity of albuminuria in T2DM and to be a good predictor of microalbuminuria, suggesting its possible role in the pathogenesis and progression of diabetic nephropathy.
Critical Nitrogen Concentration Declines with Soil Water Availability in Tall Fescue

The diagnosis of the N status of crops is based on the concept of critical N concentration (Ncr), which is the minimum N concentration in shoot biomass (SB) required for maximizing growth. A reference curve of Ncr decrease (ref-Ncr) with SB increase proposed for C3 species (ref-Ncr = 48 SB -0.32) was validated for several crops growing without water deficiency in different sites and seasons; however, the validity of ref-Ncr is uncertain when water is limiting. The objective was to assess whether water stress affects Ncr. Five regrowths of a temperate-type tall fescue [Lolium arundinaceum (Schreb.) Darbysh. ] were followed during autumn, spring, and summer in Balcarce, Argentina. Several N rates were applied and SB accumulation and N concentration were measured in each of four to six sequential SB harvests performed at every regrowth. SB, Ncr, available soil water, reference evapotranspiration (ET0), and real evapotranspiration (rET) were estimated. Ncr agreed well with ref-Ncr when soil water was nonlimiting, but it was consistently lower than ref-Ncr whenever crop rET was reduced (rET/ET0 < 1). Indeed, crop average Ncr during an entire regrowth scaled linearly with the average level of water stress in the period: (Ncr/ref-Ncr)avg = 0.83 (rET/ET0)avg + 0.22 (R 2 = 0.90, p < 0.0001). Hence, while ref-Ncr remains appropriate for assessing crop N status under adequate water availability conditions, the N nutrition management of water stressed crops should be guided by their actual Ncr. P.M. Errecart, M.G. Agnusdei, and G.D. Berone, Instituto Nacional de Tecnología Agropecuaria (INTA), Estación Experimental Agropecuaria Balcarce, Ruta 226 km 73.5, Balcarce, Argentina; F.A. Lattanzi, Lehrstuhl für Grünlandlehre, Technische Univ. München, D-85350, Freising-Weihenstephan, Germany; M.A. Marino, Facultad de Ciencias Agrarias, Univ. Nacional de Mar del Plata, Ruta 226 km 73.5, Balcarce, Argentina. This publication is a partial requirement for earning a PhD degree at the Univ. Nacional de Mar del Plata by P.M. Errecart. Received 21 Aug. 2013. *Corresponding author (errecart. pedro@inta.gob.ar). Abbreviations: D13C, carbon isotope discrimination; DM, dry matter; ET0, reference evapotranspiration; FTSW, fraction transpirable soil water; Ncr, critical N concentration; NNI, N Nutrition Index; Ref-Ncr, critical N concentration of reference; RET, real evapotranspiration; SB, shoot biomass; SBcr, critical SB; SD, standard deviation. Published in Crop Sci. 54:318–330 (2014). doi: 10.2135/cropsci2013.08. 0561 © Crop Science Society of America | 5585 Guilford Rd., Madison, WI 53711 USA All rights reserved. No part of this periodical may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, recording, or any information storage and retrieval system, without permission in writing from the publisher. Permission for printing and for reprinting the material contained herein has been obtained by the publisher.
Co‐administration of ethanol and nicotine heightens sensitivity to ethanol reward within the nucleus accumbens (NAc) shell and increasing NAc shell BDNF is sufficient to enhance ethanol reward in naïve Wistar rats

Alcohol use disorder most commonly presents as a polydrug disorder where greater than 85% are estimated to smoke. EtOH and nicotine (NIC) co‐abuse or exposure results in unique neuroadaptations that are linked to behaviors that promote drug use. The current experiments aimed to identify neuroadaptations within the mesolimbic pathway produced by concurrent EtOH and NIC exposure. The experiments used four overall groups of male Wistar rats consisting of vehicle, EtOH or NIC alone, and EtOH+NIC. Drug exposure through direct infusion into the posterior ventral tegmental area (pVTA) stimulated release of glutamate and dopamine in the nucleus accumbens (NAc) shell, which was quantified through high‐performance liquid chromatography. Additionally, brain‐derived neurotrophic factor (BDNF) protein levels were measured via enzyme‐linked immunosorbent assay (ELISA). A second experiment investigated the effects of drug pretreatment within the pVTA on the reinforcing properties of EtOH within the NAc shell through intracranial self‐administration (ICSA). The concluding experiment evaluated the effect of NAc shell pretreatment with BDNF on EtOH reward utilizing ICSA within that region. The data indicated that only EtOH+NIC administration into the pVTA simultaneously increased glutamate, dopamine, and BDNF in the NAc shell. Moreover, only pVTA pretreatment with EtOH+NIC enhanced the reinforcing properties of EtOH in the NAc shell. BDNF pretreatment in the NAc shell was also sufficient to enhance the reinforcing properties of EtOH in the NAc shell. The collected data suggest that concurrent EtOH+NIC exposure results in a distinct neurochemical response and neuroadaptations within the mesolimbic pathway that alter EtOH reward.
Advances in Water Resources

Debris-covered glaciers are increasingly studied because it is assumed that debris cover extent and thickness could increase in a warming climate, with more regular rockfalls from the surrounding slopes and more englacial melt-out material. Debris energy-balance models have been developed to account for the melt rate enhancement/reduction due to a thin/thick debris layer, respectively. However, such models require a large amount of input data that are not often available, especially in remote mountain areas such as the Himalaya, and can be difficult to extrapolate. Due to their lower data requirements, empirical models have been used extensively in clean glacier melt modelling. For debris-covered glaciers, however, they generally simplify the debris effect by using a single melt-reduction factor which does not account for the influence of varying debris thickness on melt and prescribe a constant reduction for the entire melt across a glacier. In this paper, we present a new temperature-index model that accounts for debris thickness in the computation of melt rates at the debris-ice interface. The model empirical parameters are optimized at the point scale for varying debris thicknesses against melt rates simulated by a physically-based debris energy balance model. The latter is validated against ablation stake readings and surface temperature measurements. Each parameter is then related to a plausible set of debris thickness values to provide a general and transferable parameterization. We develop the model on Miage Glacier, Italy, and then test its transferability on Haut Glacier d’Arolla, Switzerland. The performance of the new debris temperature-index (DETI) model in simulating the glacier melt rate at the point scale is comparable to the one of the physically based approach, and the definition of model parameters as a function of debris thickness allows the simulation of the nonlinear relationship of melt rate to debris thickness, summarised by the Østrem curve. Its large number of parameters might be a limitation, but we show that the model is transferable in time and space to a second glacier with little loss of performance. We thus suggest that the new DETI model can be included in continuous mass balance models of debris-covered glaciers, because of its limited data requirements. As such, we expect its application to lead to an improvement in simulations of the debris-covered glacier response to climate in comparison with models that simply recalibrate empirical parameters to prescribe a constant across glacier reduction in melt. © 2016 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY license ( http://creativecommons.org/licenses/by/4.0/ ).