bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hirschsprung disease: Insights on genes, penetrance, and prenatal diagnosis
Authors: Wang Xiao Jing , Camilleri Michael 
Published: October 2019

AbstractThe objective of this mini‐review is to provide insights on the advances in the understanding of the genetic variants associated with different manifestations of Hirschsprung disease, which may present with a range of denervation from a short segment of colon to total colonic and small bowel or extensive aganglionosis. A recent article in this journal documented potential gene variants involved in long‐segment Hirschsprung disease in 23 patients. Gene variants were identified using a 31‐gene panel of genes related to Hirschsprung disease or enteric neural crest cell development, as previously reported in the literature. The study identified potentially harmful variants in eight genes across 13 patients, with a detection rate of 56.5% (13/23 patients). Five patients had pathologic variants in RET, NRG1, and L1CAM, and the remainder were considered variants of unknown significance. The authors attempted prenatal diagnosis of Hirschsprung disease utilizing an amniocentesis sample obtained for advanced maternal age in a family with a known deleterious RET mutation, manifested in the father (long‐segment Hirschsprung disease) and older daughter (total colonic aganglionosis). The fetus had the same RET variant but, after several years of follow‐up, has not developed any symptoms of Hirschsprung disease, supporting the conclusion that this RET mutation is an autosomal dominant gene with incomplete penetrance. This experience suggests that genetic counseling is appropriate to carefully assess the justification of prenatal testing, especially, when the phenotype of long‐segment Hirschsprung disease is so variable and the disease is potentially curable with surgery.
Genomic landscape of the global oak phylogeny
Authors: Hipp Andrew L. , Manos Paul S. , Hahn Marlene , Avishai Michael , Bodénès Cathérine , Cavender‐Bares Jeannine , Crowl Andrew A. , Deng Min , Denk Thomas , Fitz‐Gibbon Sorel , Gailing Oliver , González‐Elizondo M. Socorro , González‐Rodríguez Antonio , Grimm Guido W. , Jiang Xiao‐Long , Kremer Antoine , Lesur Isabelle , McVay John D. , Plomion Christophe , Rodríguez‐Correa Hernando , Schulze Ernst‐Detlef , Simeone Marco C. , Sork Victoria L. , Valencia‐Avalos Susana 
Published: October 2019

SummaryThe tree of life is highly reticulate, with the history of population divergence emerging from populations of gene phylogenies that reflect histories of introgression, lineage sorting and divergence. In this study, we investigate global patterns of oak diversity and test the hypothesis that there are regions of the oak genome that are broadly informative about phylogeny.We utilize fossil data and restriction‐site associatedDNAsequencing (RAD‐seq) for 632 individuals representing nearly 250Quercusspecies to infer a time‐calibrated phylogeny of the world's oaks. We use a reversible‐jump Markov chain Monte Carlo method to reconstruct shifts in lineage diversification rates, accounting for among‐clade sampling biases. We then map the > 20 000RAD‐seq loci back to an annotated oak genome and investigate genomic distribution of introgression and phylogenetic support across the phylogeny.Oak lineages have diversified among geographic regions, followed by ecological divergence within regions, in the Americas and Eurasia. Roughly 60% of oak diversity traces back to four clades that experienced increases in net diversification, probably in response to climatic transitions or ecological opportunity.The strong support for the phylogeny contrasts with high genomic heterogeneity in phylogenetic signal and introgression. Oaks are phylogenomic mosaics, and their diversity may in fact depend on the gene flow that shapes the oak genome.
Distinct fine‐root responses to precipitation changes in herbaceous and woody plants: a meta‐analysis
Authors: Wang Peng , Huang Kailing , Hu Shuijin 
Published: October 2019

Summary

Precipitation is one of the most important factors that determine productivity of terrestrial ecosystems. Precipitation across the globe is predicted to change more intensively under future climate change scenarios, but the resulting impact on plant roots remains unclear.

Based on 154 observations from experiments in which precipitation was manipulated in the field and root biomass was measured, we investigated responses in fine‐root biomass of herbaceous and woody plants to alterations in precipitation.

We found that root biomass of herbaceous and woody plants responded differently to precipitation change. In particular, precipitation increase consistently enhanced fine‐root biomass of woody plants but had variable effects on herb roots in arid and semi‐arid ecosystems. In contrast, precipitation decrease reduced root biomass of herbaceous plants but not woody plants. In addition, with precipitation alteration, the magnitude of root responses was greater in dry areas than in wet areas.

Together, these results indicate that herbaceous and woody plants have different rooting strategies to cope with altered precipitation regimes, particularly in water‐limited ecosystems. These findings suggest that root responses to precipitation change may critically influence root productivity and soil carbon dynamics under future climate change scenarios.
The use of stimulus perception to account for variability in skin conductance responses to interoceptive stimuli
Authors: Zaman Jonas , Van de Pavert Iris , Van Oudenhove Lukas , Van Diest Ilse 
Published: October 2019

AbstractActivity of the electrodermal response system is customarily expressed in relation to physical stimulus properties and not to perceived features. In situations where the delivery of physically identical stimuli can be challenging, such as in interoception research, this variability might pose a challenge for contemporary SCR analyses. Therefore, we investigated the extent to which activity in the electrodermal response system triggered by the delivery of interoceptive stimuli is better predicted by perceived intensity rather than physical input. For this purpose, we reanalyzed data from the baseline phase of a previous study (n = 60) in which skin conductance responses (SCRs) to innocuous esophageal stimulations of high and low intensities were recorded in addition to categorizations based on their perceived intensity (high or low). Using both peak scoring and model inversion methods, we found that the inclusion of stimulus perception as a predictor of the magnitude of the SCR increased model fit. These findings suggest that the inclusion of perception is a promising avenue to better model variability in psychophysiological responses to interoceptive stimuli.
Associations among shyness, interpersonal relationships, and loneliness in college freshmen: A longitudinal cross‐lagged analysis
Authors: Tian Yu , Chen Peipei , Meng Weixuan , Zhan Xiangping , Wang Jun , Wang Peng , Gao Fengqiang 
Published: October 2019

This short‐term longitudinal study examined the reciprocal associations among shyness, interpersonal relationships, and loneliness in a sample of 361 Chinese college freshmen (138 male students, mean age = 18.57 years). A fully cross‐lagged panel design was used in which shyness, interpersonal relationships, and loneliness were assessed at three time points separated by 8 months. The results indicated that the associations among shyness, interpersonal relationships, and loneliness were dynamic and bidirectional. The self‐report scores and the pattern of cross‐lagged associations among shyness, interpersonal relationships, and loneliness were the same for male and female students at all three times. Implications for loneliness interventions and future research directions are provided.
Recurrent urinary tract infections caused by Raoultella planticola after kidney transplant
Authors: Harmon Stacy Lynn , Nadeem Iram 
Published: October 2019

AbstractRecurrent urinary tract infections are difficult to manage in patients with a history of kidney transplant and may contribute to graft loss. Few cases describe recurrent urinary tract infections due to Raoultella planticola in this population. We describe the management of recurrent urinary tract infections due to R planticola in a kidney transplant recipient and review other case reports of urinary tract infections due to this organism.
A computable general equilibrium analysis of Brexit: Barriers to trade and immigration restrictions
Authors: Ortiz Valverde Gabriela , Latorre Maria C. 
Published: October 2019

AbstractThis paper estimates the economic effects of different types of restrictions on trade and immigration in the United Kingdom after Brexit. Regarding trade restrictions, we focus on UK–EU increases in tariffs and non‐tariff barriers. We also analyse the removal of all tariffs in the UK to all its trading partners. Concerning immigration, we run a 5‐year cumulative annual reduction in net migrants by 87,000 workers following OECD estimations, which looks realistic even if there is a hard Brexit.The study is conducted using a computable general equilibrium (CGE) model, which allows us to estimate the impact on GDP, welfare, wages and capital remuneration, together with the evolution of aggregate and sectoral output, exports and imports.We obtain a more sizeable negative impact on the UK than other previous influential studies. Trade restrictions would generate welfare reductions between −0.38% and −1.94% for the UK, while they would be between −0.03% and −0.14% in the EU. This is because the EU is a crucial trade partner for the UK, which cannot be easily substituted through trade with other regions in the world. We simulate the impact of both reductions in net inflows and in the stock of EU migrants, accumulated through 5 years. Migration is compatible with wage increases but puts downward pressure on GDPpc. However, migration restrictions would not compensate the overall GDPpc contractions arising from a hard Brexit.
BRICS: How important is the exchange rate pass‐through?
Authors: Jiménez‐Rodríguez Rebeca , Morales‐Zumaquero Amalia 
Published: October 2019

AbstractThis paper analyses the exchange rate pass‐through (ERPT) into domestic consumer prices in BRICS (Brazil, Russia, India, China and South Africa) countries from mid‐1990s onwards by using three different econometric approaches (i.e., the single equation approach, the VAR approach and the time‐varying parameter approach). It is also studied the role of macroeconomic determinants in ERPT. Our results suggest that (a) ERPT is higher for the emerging markets with mostly floating exchange rates (Brazil, Russia and South Africa) than for the other BRICS countries; (b) exchange rate explains, on average, around the 40% of the price variance for Brazil, Russia and South Africa; and (c) inflation volatility, exchange rate volatility and openness seem to be the key macroeconomic determinants in BRICS countries.
Effect of flexible vegetation lodging on overland run‐off resistance
Authors: Zhang Shengtang , Liu Ying , Wang Zhikai , Li Guibao 
Published: October 2019

AbstractVegetation is an important factor in overland run‐off. Due to its flexibility, the vegetation will often become lodged, which will change the characteristics of the flow. However, current studies of flow resistance from flexible vegetation are primarily limited to qualitative analyses. To study the quantitative relationship between the resistance coefficient λ and the vegetation lodging angle θ, an indoor simulation experiment was carried out. The results showed that λ gradually decreased with increasing θ under the same water depth. When the vegetation was unsubmerged, λu increased as the depth of water increased under the same value of θ, while with completely submerged vegetation, λs decreased with increasing water depth. In addition, quantitative formulas for the relationship between the lodging angle and the resistance coefficient were obtained via regression analysis for both submerged and unsubmerged vegetation.
Health risk related to the presence of metals in drinking water from different types of sources
Authors: Kicińska Alicja , Wysowska Ewa 
Published: October 2019

AbstractThe aim of the paper is to assess health risk related to the exposure of people to contact with water contaminated with chosen metals, via ingestion and dermal routes. The results of analyses performed in 2012–2017 using water samples collected from a surface water intake point on the Dunajec, from infiltration wells and samples of treated water supplied to the water distribution system were used as the basis for calculations. Exposure assessment was performed for children and adults. It was demonstrated that treated water supplied directly into the water distribution system had superior parameters. In the case of adults, the calculated HI values were two or three times higher than for children over the entire analysed period in all three risk assessment scenarios. Health risk resulting from the presence of metals in water is mostly related to the ingestion exposure route. Dermal contact does not produce a considerable risk.
Contribution of nitric oxide synthase to cutaneous vasodilatation and sweating in men of black‐African and Caucasian descent during exercise in the heat
Authors: Muia Caroline M. , McGarr Gregory W. , Schmidt Madison D. , Fujii Naoto , Amano Tatsuro , Kenny Glen P. 
Published: October 2019

New Findings
What is the central question of this study?
Nitric oxide modulates cutaneous vasodilatation and sweating during exercise‐induced heat stress in young men. However, it remains uncertain whether these effects are reduced in black‐African descendants, who commonly demonstrate reduced nitric oxide bioavailability. Therefore, we assessed whether black‐African descendants display reduced nitric oxide‐dependent cutaneous vasodilatation and sweating compared with Caucasians in these conditions.

What is the main finding and its importance?
Nitric oxide‐dependent cutaneous vasodilatation and sweating were similar between groups, indicating that reduced nitric oxide bioavailability in black‐African descendants does not attenuate these heat‐loss responses during an exercise‐induced heat stress.

AbstractMen of black‐African descent are at an increased risk of heat‐related illness relative to their Caucasian counterparts. This might be attributable, in part, to reduced cutaneous nitric oxide (NO) bioavailability in this population, which might alter local cutaneous vasodilatation and sweating. To evaluate this, we compared these heat‐loss responses in young men (18–30 years of age) of black‐African (n = 10) and Caucasian (n = 10) descent during rest, exercise and recovery in the heat. Participants were matched for physical characteristics and fitness, and they were all born and raised in the same temperate environment (i.e. Canada; second generation and higher). Both groups rested for 10 min and then performed 50 min of moderate‐intensity exercise at 200 W m−2, followed by 30 min of recovery in hot, dry heat (35°C, 20% relative humidity). Local cutaneous vascular conductance (CVC%max) and sweat rate (SR) were measured at two forearm skin sites treated with either lactated Ringer solution (control) or 10 mm NG‐nitro‐l‐arginine methyl ester (l‐NAME, a nitric oxide (NO) synthase inhibitor). l‐NAME significantly reduced CVC%max throughout rest, exercise and recovery in both groups (both P < 0.001). However, there were no significant main effects for the contribution of NO to CVC%max between groups (all P > 0.500). l‐NAME significantly reduced local SR in both groups (both P < 0.050). The contribution of NO to SR was similar between groups such that l‐NAME reduced SR relative to control at 40 and 50 min into exercise (both P < 0.05). We demonstrate that ethnicity per se does not influence NO‐dependent cutaneous vasodilatation and sweating in healthy young men of black‐African and Caucasian descent during exercise in dry heat.
Longitudinal Change in Adolescent Bedtimes Measured by Self-Report and Actigraphy
Authors: Brychta Robert J. , Rögnvaldsdóttir Vaka , Guðmundsdóttir Sigríður L. , Stefánsdóttir Rúna , Hrafnkelsdóttir Soffia M. , Gestsdóttir Sunna , Arngrímsson Sigurbjörn A. , Chen Kong Y. , Jóhannsson Erlingur 
Published: October 2019

Introduction: Sleep is often quantified using self-report or actigraphy. Self-report is practical and less technically challenging, but prone to bias. We sought to determine whether these methods have comparable sensitivity to measure longitudinal changes in adolescent bedtimes. Methods: We measured one week of free-living sleep with wrist actigraphy and usual bedtime on school nights and non-school nights with self-report questionnaire in 144 students at 15 y and 17 y. Results: Self-reported and actigraphy-measured bedtimes were correlated with one another at 15 y and 17 y (p < .001), but reported bedtime was consistently earlier (>30 minutes, p < .001) and with wide inter-method confidence intervals (> ±106 minutes). Mean inter-method discrepancy did not differ on school nights at 15 y and 17 y but was greater at 17 y on non-school nights (p = .002). Inter-method discrepancy at 15 y was not correlated to that at 17 y. Mean change in self-reported school night bedtime from 15 y to 17 y did not differ from that by actigraphy, but self-reported bedtime changed less on non-school nights (p = .002). Two-year changes in self-reported bedtime did not correlate with changes measured by actigraphy. Conclusions: Although methods were correlated, consistently earlier self-reported bedtime suggests report-bias. More varied non-school night bedtimes challenge the accuracy of self-report and actigraphy, reducing sensitivity to change. On school nights, the methods did not differ in group-level sensitivity to changes in bedtime. However, lack of correlation between bedtime changes by each method suggests sensitivity to individual-level change was different. Methodological differences in sensitivity to individual- and group-level change should be considered in longitudinal studies of adolescent sleep patterns.
Workload and cross-harvest kidney injury in a Nicaraguan sugarcane worker cohort
Authors: Hansson Erik , Glaser Jason , Weiss Ilana , Ekström Ulf , Apelqvist Jenny , Hogstedt Christer , Peraza Sandra , Lucas Rebekah , Jakobsson Kristina , Wesseling Catharina , Wegman David H 
Published: October 2019

ObjectivesTo examine the association between workload and kidney injury in a fieldworker cohort with different levels of physically demanding work over a sugarcane harvest, and to assess whether the existing heat prevention efforts at a leading occupational safety and health programme are sufficient to mitigate kidney injury.MethodsBiological and questionnaire data were collected before (n=545) and at the end (n=427) of harvest among field support staff (low workload), drip irrigation workers (moderate), seed cutters (high) and burned sugarcane cutters (very high). Dropouts were contacted (87%) and reported the reason for leaving work. Cross-harvest incident kidney injury (IKI) was defined as serum creatinine increase ≥0.30 mg/dL or ≥1.5 times the baseline value, or among dropouts reporting kidney injury leading to leaving work.ResultsMean cross-harvest estimated glomerular filtration rate change was significantly associated with workload, increasing from 0 mL/min/1.73 m2in the low-moderate category to −5 mL/min/1.73 m2in the high and −9 mL/min/1.73 m2in the very high workload group. A similar pattern occurred with IKI, where low-moderate workload had 2% compared with 27% in the very high workload category. A healthy worker selection effect was detected, with 32% of dropouts reporting kidney injury. Fever and C reactive protein elevation were associated with kidney injury.ConclusionsWorkers considered to have the highest workload had more cross-harvest kidney damage than workers with less workload. Work practices preventing heat stress should be strengthened and their role in preventing kidney damage examined further. Future occupational studies on chronic kidney disease of unknown aetiology should account for a healthy worker effect by pursuing those lost to follow-up.
Screening $$\Lambda $$ in a new modified gravity model
Authors: Akarsu Özgür , Barrow John D. , Board Charles V. R. , Uzun N. Merve , Vazquez J. Alberto 
Published: October 2019

Abstract
We study a new model of Energy-Momentum Squared Gravity (EMSG), called Energy-Momentum Log Gravity (EMLG), constructed by the addition of the term $$f(T_{\mu \nu }T^{\mu \nu })=\alpha \ln (\lambda \,T_{\mu \nu }T^{\mu \nu })$$f(TμνTμν)=αln(λTμνTμν), envisaged as a correction, to the Einstein–Hilbert action with cosmological constant $$\Lambda $$Λ. The choice of this modification is made as a specific way of including new terms in the right-hand side of the Einstein field equations, resulting in constant effective inertial mass density and, importantly, leading to an explicit exact solution of the matter energy density in terms of redshift. We look for viable cosmologies, in particular, an extension of the standard $$\Lambda $$ΛCDM model. EMLG provides an effective dynamical dark energy passing below zero at large redshifts, accommodating a mechanism for screening $$\Lambda $$Λ in this region, in line with suggestions for alleviating some of the tensions that arise between observational data sets within the standard $$\Lambda $$ΛCDM model. We present a detailed theoretical investigation of the model and then constrain the free parameter $$\alpha '$$α′, a normalisation of $$\alpha $$α, using the latest observational data. The data does not rule out the $$\Lambda $$ΛCDM limit of our model ($$\alpha '= 0$$α′=0), but prefers slightly negative values of the EMLG model parameter ($$\alpha '= -0.032\pm 0.043$$α′=-0.032±0.043), which leads to the screening of $$\Lambda $$Λ. We also discuss how EMLG relaxes the persistent tension that appears in the measurements of $$H_0$$H0 within the standard $$\Lambda $$ΛCDM model.
Indexingk-mers in linear space for quality value compression
Authors: Shibuya Yoshihiro , Comin Matteo 
Published: October 2019

Many bioinformatics tools heavily rely on [Formula: see text]-mer dictionaries to describe the composition of sequences and allow for faster reference-free algorithms or look-ups. Unfortunately, naive [Formula: see text]-mer dictionaries are very memory-inefficient, requiring very large amount of storage space to save each [Formula: see text]-mer. This problem is generally worsened by the necessity of an index for fast queries. In this work, we discuss how to build an indexed linear reference containing a set of input [Formula: see text]-mers and its application to the compression of quality scores in FASTQ files. Most of the entropies of sequencing data lie in the quality scores, and thus they are difficult to compress. Here, we present an application to improve the compressibility of quality values while preserving the information for SNP calling. We show how a dictionary of significant [Formula: see text]-mers, obtained from SNP databases and multiple genomes, can be indexed in linear space and used to improve the compression of quality value.Availability: The software is freely available at https://github.com/yhhshb/yalff .