bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pleiotropy Informed Adaptive Association Test of Multiple Traits Using Genome-Wide Association Study Summary Data
Authors: Masotti Maria , Guo Bin , Wu Baolin 
Published: April 2019

Abstract
Genetic variants associated with disease outcomes can be used to develop personalized treatment. To reach this precision medicine goal, hundreds of large-scale genome-wide association studies (GWAS) have been conducted in the past decade to search for promising genetic variants associated with various traits. They have successfully identified tens of thousands of disease-related variants. However, in total these identified variants explain only part of the variation for most complex traits. There remain many genetic variants with small effect sizes to be discovered, which calls for the development of (a) GWAS with more samples and more comprehensively genotyped variants, for example, the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program is planning to conduct whole genome sequencing on over 100 000 individuals; and (b) novel and more powerful statistical analysis methods. The current dominating GWAS analysis approach is the “single trait” association test, despite the fact that many GWAS are conducted in deeply phenotyped cohorts including many correlated and well-characterized outcomes, which can help improve the power to detect novel variants if properly analyzed, as suggested by increasing evidence that pleiotropy, where a genetic variant affects multiple traits, is the norm in genome-phenome associations. We aim to develop pleiotropy informed powerful association test methods across multiple traits for GWAS. Since it is generally very hard to access individual-level GWAS phenotype and genotype data for those existing GWAS, due to privacy concerns and various logistical considerations, we develop rigorous statistical methods for pleiotropy informed adaptive multitrait association test methods that need only summary association statistics publicly available from most GWAS. We first develop a pleiotropy test, which has powerful performance for truly pleiotropic variants but is sensitive to the pleiotropy assumption. We then develop a pleiotropy informed adaptive test that has robust and powerful performance under various genetic models. We develop accurate and efficient numerical algorithms to compute the analytical P-value for the proposed adaptive test without the need of resampling or permutation. We illustrate the performance of proposed methods through application to joint association test of GWAS meta-analysis summary data for several glycemic traits. Our proposed adaptive test identified several novel loci missed by individual trait based GWAS meta-analysis. All the proposed methods are implemented in a publicly available R package.
Differences in practice of ophthalmology by gender in Australia
Authors: Lo Tiffany C. S. , Rogers Sophie L. , Hall Anthony J. , Lim Lyndell L. 
Published: April 2019

AbstractImportanceThe number of females practising ophthalmology is rising. It is known that practice patterns between female and male ophthalmologists differ. Understanding the differences will help to inform future workforce planning.BackgroundTo investigate the differences in clinical practice between female and male ophthalmologists in Australia.DesignCross‐sectional study.ParticipantsOphthalmologists participating in the Royal Australian & New Zealand College of Ophthalmologists workforce survey, and/or Medicine in Australia: Balancing Employment and Life survey, and those who made claims from Medicare Benefits Schedule Australia.MethodsCombined analysis of de‐identified 2014 data from the surveys and Medicare Benefits Schedule.Main Outcome MeasuresHours worked, service provision, remuneration and social circumstances.ResultsFemale ophthalmologists provided 35% fewer services per ophthalmologist per year (2834 vs 4328) than male ophthalmologists. Female ophthalmologists received approximately half the annual income of male ophthalmologists; median self‐reported net personal annual income was AUD122 500 (interquartile range [IQR] 96 000‐225 000) for females compared to AUD245 000 (IQR 180 000‐365 000) for males (P = .01). The median self‐reported hours worked per week was 35.0 (IQR 28.0‐46.0) for females and 41.8 (IQR 36.5‐48.5) for males (P = 0.04). A higher proportion of females practise in medical subspecialties, while a higher proportion of males practise in surgical subspecialties.Conclusions and RelevanceFemale ophthalmologists earn less compared to male ophthalmologists after accounting for lower service provision and hours worked. Difference in income may be partially accounted for by higher total number of services and procedural services provided by male ophthalmologists. Understanding differences between female and male ophthalmologists will help to inform future medical workforce planning.
Arenaviruses and West Nile Virus in solid organ transplant recipients: Guidelines from the American Society of Transplantation Infectious Diseases Community of Practice
Authors: Anesi Judith A. , Silveira Fernanda P. ,   the AST Infectious Diseases Community of Practice
Published: April 2019

AbstractThese updated guidelines from the Infectious Diseases Community of Practice of the American Society of Transplantation review the epidemiology, diagnosis, prevention, and management of infection due to Arenaviruses and West Nile Virus (WNV) in the pre‐ and post‐transplant period. Arenaviruses and WNV have been identified as causes of both donor‐derived and post‐transplant infection. Most data related to these infections have been published in case reports and case series. Transplant recipients may become infected with Arenaviruses if they, or their donors, are exposed to wild rodents or infected pet rodents. Lymphocytic choriomeningitis virus is the most commonly recognized Arenavirus among transplant recipients and should be considered when transplant recipients present with fever, hepatitis, meningitis/encephalitis, and/or multisystem organ failure. WNV is a mosquito‐borne virus, and as such, its incidence varies yearly depending on environmental conditions. WNV in transplant recipients typically presents with fever, myalgias, and rash; approximately one in 40 develop neuroinvasive disease. Due to its morbidity, the Organ Procurement and Transplantation Network recently mandated that transplant centers screen living donors for WNV infection in endemic areas. Little is known about the optimal treatment of Arenaviruses or WNV; reduction in immunosuppression and supportive care are the mainstays of management at present.
Mediterranean coastal conditions and litter type drive litter microbial responses to drought stress
Authors: Kheir Maya , Roche Philip , Ziarelli Fabio , Farnet da Silva Anne Marie 
Published: April 2019

AbstractWarming and disturbance of precipitation dynamics are expected in the Mediterranean basin, resulting in longer, more intense drought and heat waves. Here we investigated how litter microbial functioning and responses to stress may be shaped by coastal environmental conditions, and whether this depends on litter type (Pinus halepensis, Pistacia lentiscus and their admixture). Mesocosms of monospecific and mixed litters collected from both inland and coastal areas were subjected to either control (25°C, 60% water holding capacity [WHC]) or stress conditions (five drying‐rewetting [D/rW] cycles: 1 week of drying at 35°C, 1 week at 25°C, 60% WHC). Litters were characterised using chemical analyses (C/N ratio and solid‐state 13C nuclear magnetic resonance [NMR] spectroscopy) and indicators of microbial activity (lignocellulolytic activities, basal respiration [BR], active microbial biomass [MB], fungal and bacterial catabolic profiles). Litter type controlled cellulases and basal respiration in litters from the inland area (e.g. positive correlations between these microbial indicators and di‐O‐alkyl C + O‐alkyl C and %N), whereas the litter‐type effect was smoothed for the coastal area. Fungal and bacterial catabolic profiles were mainly shaped by the coastal conditions and litter type, respectively, indicating that fungi were more sensitive to coast‐specific conditions and bacteria more sensitive to their immediate surrounding (i.e. litter type). After D/rW cycles, microbial catabolic profiles showed: (a) a stronger stress impact on microbial communities from the inland area and (b) pre‐exposure to coastal constraints limited the drought effect on decomposers from the coastal area. Our findings reveal that coastal environmental conditions and litter type are major drivers of microbial functioning and responses to drought stress.Highlights
Poorly documented litter functioning in Mediterranean coastal environments is here investigated
Coastal conditions smoothed litter type effect on certain microbial markers
Pre‐exposure to stress (coastal conditions) limited drought effect on microbial catabolic profiles
Coastal areas should be considered when evaluating microbial functioning and responses to drought
Orthostatic blood pressure rise is associated with frailty in older patients
Authors: Toba Ayumi , Ishikawa Joji , Suzuki Ayumi , Tamura Yoshiaki , Araki Atsushi , Harada Kazumasa 
Published: April 2019

AimOrthostatic blood pressure (BP) can fall with reduced stroke volume and arterial elasticity. However, as the reason for orthostatic BP rise is unclear, we investigated the relationship of orthostatic BP rise with frailty in older patients.MethodsIn 169 consecutive outpatients who visited the frailty clinic, we evaluated orthostatic BP and heart rate changes (i.e. in the sitting position, just after standing up, 1 min after standing and after sitting down). Frailty was evaluated using the Kihon Checklist (KCL) established by the Ministry of Health, Labor and Welfare.ResultsThe mean age was 77.4 ± 6.9 years, and 29% of patients had frailty with a KCL score ≥8. The systolic BP declined in both groups, but patients with frailty experienced a smaller decrease just after standing (−0.2 ± 10.3 vs −6.2 ± 11.5, P = 0.001). During standing for 1 min, elevation of systolic BP was greater in patients with frailty than in those without (8.4 ± 11.6 mmHg vs 3.2 ± 11.2 mmHg, P = 0.009). The difference in elevation of systolic BP remained significant, even after adjusting for confounding factors including systolic BP before standing (P = 0.013). In particular, the KCL score for motor function was significantly correlated with an elevation of orthostatic systolic BP after standing for 1 min, even after controlling for systolic BP before standing and confounding factors (P = 0.020).ConclusionsThe elevation of systolic BP after standing for 1 min was greater in patients with frailty as diagnosed by the KCL score, especially in relation to reduced motor function. Geriatr Gerontol Int 2019; 19: 525–529.
Significance of serum ferritin level in hemophagocytic lymphohistiocytosis diagnosis
Authors: Zhao Xiao‐Xi , Lian Hong‐Yun , Zhang Li , Ma Hong‐Hao , Wang Dong , Zhao Yun‐Ze , Liu Zeng‐Wu , Wang Tian‐You , Zhang Rui , Li Zhi‐Gang 
Published: April 2019

AbstractIntroductionThe threshold of serum ferritin (SF) level listed in diagnostic guidelines for hemophagocytic lymphohistiocytosis (HLH) of HLH‐2004 has a low specificity. The goal of this research was to evaluate the role of admission SF in HLH diagnostic procedure and to find an appropriate threshold for a HLH suspected cohort with fever.MethodsAll patients admitted to Beijing Children's Hospital during the period of September 1, 2015 and July 31, 2016 with fever and SF tested at admission were included in this study. The significance of SF in HLH diagnosis and its relationships with HLH‐relevant clinical characteristics were studied.ResultsAmong 357 patients, 39 HLH cases were diagnosed (24 EBV‐related HLH, 13 unknown etiologies triggered HLH, and two familial HLH).The best cutoff value of admission SF was 934 ng/mL, with sensitivity, specificity, positive predictive values (PPV), and negative predictive values (NPV) being 87.2%, 88.4%, 47.9%, and 98.3%, respectively. Compared to 500 ng/mL, specificity and PPV of the new SF standard in HLH diagnose increased by 11.7% and 14.0%, which indicated improvements in diagnostic ability of “non‐HLH” and in veracity of “HLH” identification. Among four HLH patients whose admission SF was between 500 ng/mL and 934 ng/mL, HLH diagnosis was guaranteed by other laboratory results in two patients; however, possible misdiagnosis was made in the rest two patients.ConclusionElevated cutoff value of admission SF level seems to be more appropriate for distinguishing HLH in patients with fever. The exact cutoff value of SF level at diagnosis needs to be determined.
Novel multiuse liquid phase promoter for PM components
Authors: Galán‐Salazar Andrea , Campos Mónica , Torralba José Manuel 
Published: April 2019

AbstractThe aim of this work was to characterize the behavior of a novel multiuse B‐free alloy that was designed as a liquid phase promoter and as a filler material for sintering and brazing steels in N2‐H2. Through thermodynamic calculations, a new Cu‐Fe‐Ni‐Si alloy (named LP) has been designed showing a proper melting point suitable for being used at temperatures below 1100°C, with good wetting behavior that allows it use as brazing material and liquid phase former. This new boron‐free alloy has shown good dimensional behavior, good brazeability, and competitive mechanical properties. These demonstrated features allow the developed alloy it use as braze material for PM parts in industrial furnaces as well as master alloy to promote transient liquid phase in PM structural steels.
The effects of mechanical stretch on the biological characteristics of human adipose‐derived stem cells
Authors: Fang Bin , Liu Yanjun , Zheng Danning , Shan Shengzhou , Wang Chuandong , Gao Ya , Wang Jing , Xie Yun , Zhang Yifan , Li Qingfeng 
Published: April 2019

AbstractAdipose‐derived stem cells (ADSCs) are a subset of mesenchymal stem cells (MSCs), which have promised a vast therapeutic potential in tissue regeneration. Recent studies have demonstrated that combining stem cells with mechanical stretch may strengthen the efficacy of regenerative therapies. However, the exact influences of mechanical stretch on MSCs still remain inconclusive. In this study, human ADSCs (hADSCs) were applied cyclic stretch stimulation under an in vitro stretching model for designated duration. We found that mechanical stretch significantly promoted the proliferation, adhesion and migration of hADSCs, suppressing cellular apoptosis and increasing the production of pro‐healing cytokines. For differentiation of hADSCs, mechanical stretch inhibited adipogenesis, but enhanced osteogenesis. Long‐term stretch could promote ageing of hADSCs, but did not alter the cell size and typical immunophenotypic characteristics. Furthermore, we revealed that PI3K/AKT and MAPK pathways might participate in the effects of mechanical stretch on the biological characteristics of hADSCs. Taken together, mechanical stretch is an effective strategy for enhancing stem cell behaviour and regulating stem cell fate. The synergy between hADSCs and mechanical stretch would most likely facilitate tissue regeneration and promote the development of stem cell therapy.
Locating the Wild Man: Rain Forest Enchantments and Settler Colonial Fantasies Amid the Ruins of the Anthropocene
Authors: Murray Cailín E. 
Published: April 2019

AbstractThe figure of the Wild Man resides at the hinge where nature meets culture. In the Pacific Northwest, the Wild Man is known locally by different names and is interpreted through a variety of cultural and historical lenses. Settler colonialism in the region, for example, situated the Wild Man within wilderness and anachronistic spaces, aligning him with a bygone and romanticized indigeneity. Conversely, Coast Salish people invigorate new stories of the Wild Man as critique of the ruins of late capitalism. The Wild Man provides them with strength to assert their autonomy and authority in leading the restoration of the natural environment. This article explores monstrous entanglements between settler colonialism, indigeneity and the Wild Man on the Olympic Peninsula in Washington State.
Factorial models to estimate isoleucine requirements for broilers
Authors: Melaré Mirella Cunha , Sakomura Nilva Kazue , Reis Matheus de Paula , Peruzzi Nelson José , Gonçalves Camila Angélica 
Published: April 2019

AbstractThe objective of this work was to determine the efficiency of utilization (EU) and produce factorial models for optimal isoleucine (Ile) intake. Six dose–response trials were carried out, three for males and three for females, with 640 Ross 308 in each studied phase. The initial (1–14 days), grower (15–28 days) and finisher (29–42 days) phases were evaluated to cover the growing phase of the broiler chicken. In total, eight treatments were randomly distributed to four replicates of 20 birds each. The treatments consisted of seven crescent levels of Ile and one counter proof to ensure that Ile was the first limiting amino acid in the diet. Dilution technique was applied to produce the levels of Ile and keep the amino acid ratio with lysine. The EU was determined to account for whole body or partitioned for feather‐free body (Bff) and feather. Two distinct factorial models were adjusted, M1 and M2. The M2 model was evaluated for one or two EU, being denominated as M2 and M3. When the efficiency was partitioned, the values of 53% and 69% for feather and Bff were determined. The optimal Ile intake estimated for each model were of 275, 908, 1,412 mg of Ile/bird/day (M1); 258, 829, 1,321 mg of Ile/bird/day (M2); and 284, 835, 1,288 mg of Ile/bird/day (M3) for initial, grower and finisher phases respectively. The EU partitioned for feather‐free body and feather reduced the biased of the model M3. Overall, higher values of Ile intake are estimated when model M1 is used, which may be the difference in account for body weight gain (M1) or only protein gain (M2 and M3) to estimate the amount of amino acid required for broiler.
Long Memory, Realized Volatility and Heterogeneous Autoregressive Models
Authors: Baillie Richard T. , Calonaci Fabio , Cho Dooyeon , Rho Seunghwa 
Published: April 2019

The presence of long memory in realized volatility (RV) is a widespread stylized fact. The origins of long memory in RV have been attributed to jumps, structural breaks, contemporaneous aggregation, nonlinearities, or pure long memory. An important development has been the heterogeneous autoregressive (HAR) model and its extensions. This article assesses the separate roles of fractionally integrated long memory models, extended HAR models and time varying parameter HAR models. We find that the presence of the long memory parameter is often important in addition to the HAR models.
A rare cause of a cholestatic jaundice in a North African teenager
Authors: Schreiner Philipp , Stieger Bruno , McLin Valérie , Rougemont Anne‐Laure , Keitel Verena , Dröge Carola , Müllhaupt Beat 
Published: April 2019

AbstractWe report an unusual case of intermittent episodes of cholestasis in a young patient. The cholestatic attacks were preceded in each case by an infection and subsequent antibiotic therapies. After ruling out many possible causes of cholestatic hepatitis, the differential diagnoses were a benign recurrent intrahepatic cholestasis or a drug‐induced liver injury. We discuss here the diagnostic approach and interpretation of the genetic analysis.
Reconsidering the ‘self’ in self‐management of chronic illness: Lessons from relational autonomy
Authors: Ould Brahim Lydia 
Published: April 2019

AbstractSelf‐management is often presented as a panacea for chronic disease care. It plays an important role at the policy level and increasingly guides the delivery of health care services. Self‐management approaches to care are founded on traditional individualistic views of autonomy in which the patient is understood as being independent, rational, self‐interested, and self‐governing. This conceptualization of autonomy has been challenged, particularly by feminist scholars. In this paper I review predominant critiques of self‐management and the traditional individualistic view of autonomy. I propose that a relational approach to autonomy, which is premised on social embeddedness and attends to social, political, and material conditions, is a more sound conception of autonomy capable of taking into consideration the complexities of illness experiences. I suggest that integrating a relational perspective of autonomy into self‐management will be valuable in guiding its progression and elaborate ways in which self‐management research and practice could benefit from incorporating a relational approach to autonomy.
Lower resting cardiac autonomic balance in young adults with current major depression
Authors: Brush Christopher J. , Olson Ryan L. , Ehmann Peter J. , Bocchine Anthony J. , Bates Marsha E. , Buckman Jennifer F. , Leyro Teresa M. , Alderman Brandon L. 
Published: April 2019

AbstractResearch on cardiac autonomic function in major depressive disorder (MDD) has predominantly examined cardiac vagal control and adopted a model of reciprocal autonomic balance. A proposed bivariate autonomic continuum uses cardiac autonomic balance (CAB) and cardiac autonomic regulation (CAR) models, derived from normalized values of respiratory sinus arrhythmia and pre‐ejection period, to more adequately index patterns of autonomic control. The purpose of this study was to assess resting levels of CAB and CAR among young adults with and without a current diagnosis of major depression. One hundred forty‐two young adults (n = 65 MDD, n = 77 healthy controls; 20.8 ± 2.6 years) completed a structured diagnostic interview, cardiovascular assessment, and a maximal aerobic fitness test. The findings revealed that CAB, but not CAR, significantly predicted current MDD status (OR = 0.70, 95% CI [0.53, 0.93]), an effect that remained after controlling for aerobic fitness and body mass index. Although CAB was found to be a significant predictor of current MDD status among a sample of young adults, there remained substantial variation in autonomic control that was not captured by the traditional model of reciprocal autonomic balance.
The highly divergent Jekyll genes, required for sexual reproduction, are lineage specific for the related grass tribes Triticeae and Bromeae
Authors: Radchuk Volodymyr , Sharma Rajiv , Potokina Elena , Radchuk Ruslana , Weier Diana , Munz Eberhard , Schreiber Miriam , Mascher Martin , Stein Nils , Wicker Thomas , Kilian Benjamin , Borisjuk Ljudmilla 
Published: April 2019

SummaryPhylogenetically related groups of species contain lineage‐specific genes that exhibit no sequence similarity to any genes outside the lineage. We describe here that the Jekyll gene, required for sexual reproduction, exists in two much diverged allelic variants, Jek1 and Jek3. Despite low similarity, the Jek1 and Jek3 proteins share identical signal peptides, conserved cysteine positions and direct repeats. The Jek1/Jek3 sequences are located at the same chromosomal locus and inherited in a monogenic Mendelian fashion. Jek3 has a similar expression as Jek1 and complements the Jek1 function in Jek1‐deficient plants. Jek1 and Jek3 allelic variants were almost equally distributed in a collection of 485 wild and domesticated barley accessions. All domesticated barleys harboring the Jek1 allele belong to single haplotype J1‐H1 indicating a genetic bottleneck during domestication. Domesticated barleys harboring the Jek3 allele consisted of three haplotypes. Jekyll‐like sequences were found only in species of the closely related tribes Bromeae and Triticeae but not in other Poaceae. Non‐invasive magnetic resonance imaging revealed intrinsic grain structure in Triticeae and Bromeae, associated with the Jekyll function. The emergence of Jekyll suggests its role in the separation of the Bromeae and Triticeae lineages within the Poaceae and identifies the Jekyll genes as lineage‐specific.