bluuebunny/crossref_metadata_2025_split huggingface dataset:
Efficient strategies to detect genome editing and integrity in CRISPR-Cas9 engineered ESCs
Authors: Gehre Maja , Buccitelli Christopher , Diaz Nichole , Korbel Jan , Noh Kyung-Min 
Published: May 2019

AbstractCRISPR-mediated genome engineering provides a powerful tool to study the function of genes and proteins. In the past decades, the advances in genome and transcriptome sequencing techniques have shed light on the genetic causes underlying many human diseases, such as neurodevelopmental disabilities or cancer. Sometimes, a single point-mutation in a protein coding gene has been identified as the primary cause of the disease. CRISPR-Cas offers the possibility to introduce or remove such a mutation of interest to understand disease mechanisms and even bears therapeutic potential. We describe the adaptation of an experimental strategy that allows the mutation of protein residues in mouse embryonic stem cells (ESCs) and propose a new screening method, Mismatch-qPCR, to reliably detect editing events in clonal cell lines as an alternative to restriction digest or Sanger sequencing. Finally, we show that RNA-Sequencing (RNA-Seq) data or low-coverage genomic sequencing data can be used to detect large chromosomal deletions and rearrangements that frequently occur at the CRISPR-targeting site.
A method for non-invasive prenatal diagnosis of monogenic autosomal recessive disorders
Authors: Cutts Anthony , Vavoulis Dimitrios V. , Petrou Mary , Smith Frances , Clark Barnaby , Henderson Shirley , Schuh Anna 
Published: May 2019

AbstractNon-invasive prenatal testing (NIPT) to date is used in the clinic primarily to detect foetal aneuploidy. Few studies so far have focused on the detection of monogenic autosomal recessive disorders where mother and foetus carry the same mutation. In particular, NIPT is currently not available for the detection of Sickle Cell Anaemia (SCA), the most common monogenic disorder world-wide and the most common indication for invasive prenatal testing in high-income countries. Here, we report the clinical validation of a novel diagnostic approach that combines ultra-sensitive amplicon-based sequencing of cell-free DNA (cfDNA) with internal controls and bias factor correction to calculate the probability for the presence of allelic imbalance from maternal plasma without prior knowledge of the paternal genotype. Identification of the foetal genotype was determined using a hierarchical probabilistic model based on the relative number of reads from the sequencing, along with the foetal fraction. NIPT was performed on a cohort of 57 patients, all of whom had previously undergone invasive prenatal testing so that the foetal genotype was known. Overall, NIPT demonstrated 100% sensitivity and negative predictive value for foetal fractions higher than 0.5%, and 100% specificity and positive predictive value for foetal fractions higher than or equal to 4%. Our methodology can be used as a safe, non-invasive screening tool in any clinical scenarios where early prenatal diagnosis of SCA or other recessive disorders is important.
Phenotype‐by‐environment interactions influence dispersal
Authors: Baines Celina B. , Ferzoco Ilia Maria C. , McCauley Shannon J. 
Published: May 2019

AbstractNumerous studies have demonstrated that dispersal is dependent on both disperser phenotype and the local environment. However, there is substantial variability in the observed strength and direction of phenotype‐ and environment‐dependent dispersal. This has been hypothesized to be the result of interactive effects among the multiple phenotypic and environmental factors that influence dispersal.Here, our goal was to test the hypothesis that these interactions are responsible for generating variation in dispersal behaviour.We achieved these goals by conducting a large, 2‐year, mark–release–recapture study of the backswimmerNotonecta undulatain an array of 36 semi‐natural ponds. We measured the effects of multiple phenotypic (sex and body size) and environmental (population density and sex ratio) factors, on both dispersal probability and dispersal distance.We found support for the hypothesis that interactive effects influence dispersal and produce variability in phenotype‐ and environment‐dependent dispersal: dispersal probability was dependent on the three‐way interaction between sex, body mass and population density. Small males displayed strong, positive density dependence in their dispersal behaviour, while large males and females overall did not respond strongly to density. Small notonectids, regardless of sex, were more likely to disperse, but this effect was strongest at high population densities. Finally, the distance dispersed by backswimmers was a negative function of population density, a pattern which we hypothesize could be related to: (a) individuals from high and low density patches having different dispersal strategies, or (b) the effect of density on dispersal capacity.These results suggest that phenotype‐by‐environment interactions strongly influence dispersal. Since phenotype‐ and environment‐dependent dispersal has different consequences for ecological and evolutionary dynamics (e.g. metapopulation persistence and local adaptation) than random dispersal, interactive effects may have wide‐reaching impacts on populations and communities. We therefore argue that more investment should be made into estimating the effects of multiple, interacting factors on dispersal and determining whether similar interactive effects are acting across systems.
A chromosome‐level genome of black rockfish, Sebastes schlegelii, provides insights into the evolution of live birth
Authors: He Yan , Chang Yue , Bao Lisui , Yu Mengjun , Li Rui , Niu Jingjing , Fan Guangyi , Song Weihao , Seim Inge , Qin Yating , Li Xuemei , Liu Jinxiang , Kong Xiangfu , Peng Meiting , Sun Minmin , Wang Mengya , Qu Jiangbo , Wang Xuangang , Liu Xiaobing , Wu Xiaolong , Zhao Xi , Wang Xuliang , Zhang Yaolei , Guo Jiao , Liu Yang , Liu Kaiqiang , Wang Yilin , Zhang He , Liu Longqi , Wang Mingyue , Yu Haiyang , Wang Xubo , Cheng Jie , Wang Zhigang , Xu Xun , Wang Jian , Yang Huanming , Lee Simon Ming‐Yuen , Liu Xin , Zhang Quanqi , Qi Jie 
Published: May 2019

AbstractThe black rockfish (Sebastes schlegelii) is a teleost in which eggs are fertilized internally and retained in the maternal reproductive system, where they undergo development until live birth (viviparity). In the present study, we report a chromosome‐level black rockfish genome assembly. High‐throughput transcriptome analysis (RNA‐seq and ATAC‐seq) coupled with in situ hybridization (ISH) and immunofluorescence reveal several candidate genes for maternal preparation, sperm storage and release, and hatching. We propose that zona pellucida (ZP) proteins retain sperm at the oocyte envelope, while genes in two distinct astacin metalloproteinase subfamilies serve to release sperm from the ZP and free the embryo from chorion at prehatching stage. We present a model of black rockfish reproduction, and propose that the rockfish ovarian wall has a similar function to the uterus of mammals. Together, these genomic data reveal unprecedented insights into the evolution of an unusual teleost life history strategy, and provide a sound foundation for studying viviparity in nonmammalian vertebrates and an invaluable resource for rockfish ecological and evolutionary research.
Ex Post Settling Up in Cash Compensation: New Evidence
Authors: Albuquerque Ana , Chen Bingyi , Dong Qi (Flora) , Riedl Edward J. 
Published: May 2019

ABSTRACTThis paper provides new evidence on whether and how boards solve costly ex post settling up to recover CEO cash compensation for unrealized gains that fail to materialize. Our analyses are motivated by the likely expanding role for ex post settling up as the risk of compensating executives for unrealized gains that may never materialize increases in a more intangibles‐based economy, as well as by the conflicting evidence of prior research. We provide evidence consistent with ex post settling up by (i) using alternative truncation methods to derive observations most likely to fall within the theoretically motivated incentive zone; (ii) replicating and reconciling the conflicting results of prior research that supports (Leone et al. 2006) and fails to support (Shaw and Zhang 2010) ex post settling up; (iii) using Incentive Lab data with contract‐specific information, allowing strong identification of observations in the incentive zone; and (iv) documenting predictable cross‐sectional variation, with ex post settling up being more pronounced for firms with stronger corporate governance, less conservative accounting earnings, and a larger proportion of total pay in the form of cash compensation. Overall, we conclude that evidence is strong in support of the ex post settling up hypothesis.
A meta‐analysis of the efficacy of gabapentin for treating alcohol use disorder
Authors: Kranzler Henry R. , Feinn Richard , Morris Paige , Hartwell Emily E. 
Published: May 2019

AbstractBackground and AimsStudies of the efficacy of gabapentin for treating alcohol use disorder (AUD) have yielded mixed findings. The aims of our study were to estimate gabapentin's effects on six alcohol‐related outcomes, test potential moderators, examine publication bias and evaluate the quality of the studies.MethodsMeta‐analysis of placebo‐controlled randomized controlled trials (RCTs). Using PubMed and ClinicalTrials.gov, we selected RCTs of gabapentin's effects on alcohol consumption or a biochemical correlate of it, excluding studies limited to other primary outcomes or that combined gabapentin with other medications. We assessed study quality and used a random‐effects model to analyze each outcome measure and the Egger regression test and funnel plots to assess publication bias.ResultsWe identified seven RCTs of gabapentin that met study criteria. The quality of the studies overall was good, and there was no evidence of publication bias. Four to seven studies contributed to the analysis of the six outcome measures. For all outcome measures the effect estimates were in a direction that favored gabapentin over placebo. However, only for percentage of heavy drinking days was there good evidence of a benefit (g = −0.64, 95% confidence interval = −1.22 to −0.06).ConclusionsAlthough gabapentin appears to be more efficacious than placebo in treating AUD, the only measure on which the analysis clearly favors the active medication is percentage of heavy drinking days. Additional studies are needed to define more clearly the role of gabapentin in AUD treatment.
Information and communication technology among early and late middle‐aged adults in urban China: Daily use and anticipated support in old age
Authors: Song Yajun , Chen Yan‐Yan 
Published: May 2019

AbstractObjectivesGuided by the unified theory of acceptance and use of technology (UTAUT), the study explored information and communications technology (ICT) use and anticipation among middle‐aged adults in urban China.MethodsPath analysis was performed on data from 401 participants aged 45‐65 to examine the associations between anticipated ICT support and the acceptance and adoption process of ICT.ResultsFor the late middle‐aged adults, those who had greater belief in ICT usefulness and received more social support for ICT use were more likely to anticipate greater ICT support in old age. These associations were not found in the early middle‐aged group.DiscussionThe frequency of ICT use may be the key explanation for different ICT predictors and patterns. The constructs of UTAUT are sequential steps. Middle‐aged adults may believe in ICT usefulness even though they have not witnessed it in person.
Oxygenation of adipose tissue: A human perspective
Authors: Lempesis Ioannis G. , van Meijel Rens L. J. , Manolopoulos Konstantinos N. , Goossens Gijs H. 
Published: May 2019

AbstractObesity is a complex disorder of excessive adiposity, and is associated with adverse health effects such as cardiometabolic complications, which are to a large extent attributable to dysfunctional white adipose tissue. Adipose tissue dysfunction is characterized by adipocyte hypertrophy, impaired adipokine secretion, a chronic low‐grade inflammatory status, hormonal resistance and altered metabolic responses, together contributing to insulin resistance and related chronic diseases. Adipose tissue hypoxia, defined as a relative oxygen deficit, in obesity has been proposed as a potential contributor to adipose tissue dysfunction, but studies in humans have yielded conflicting results. Here, we will review the role of adipose tissue oxygenation in the pathophysiology of obesity‐related complications, with a specific focus on human studies. We will provide an overview of the determinants of adipose tissue oxygenation, as well as the role of adipose tissue oxygenation in glucose homeostasis, lipid metabolism and inflammation. Finally, we will discuss the putative effects of physiological and experimental hypoxia on adipose tissue biology and whole‐body metabolism in humans. We conclude that several lines of evidence suggest that alteration of adipose tissue oxygenation may impact metabolic homeostasis, thereby providing a novel strategy to combat chronic metabolic diseases in obese humans.
A systematic review of patient‐reported outcomes associated with the use of direct‐acting oral anticoagulants
Authors: Afzal Saima Kishvar , Hasan Syed Shahzad , Babar Zaheer Ud‐Din 
Published: May 2019

AimsPatient‐reported outcomes (PROs) are a distinctive method of evaluating patient response to health care or treatment. This systematic review aimed to analyse the impact of PROs in patients on direct oral anticoagulant (DOAC) treatment, prescribed for any indication (e.g. venous thromboembolism treatment or atrial fibrillation) using controlled trials (CT) and real‐world observational studies (OS).MethodsA systematic search of articles was conducted according to PRISMA guidelines using databases, with the last update in November 2018. The Cochrane Collaboration tool for assessing bias in randomized CTs and the Newcastle‐Ottawa Scale adapted for cross‐sectional studies were used. Outcomes evaluated were related to health‐related quality of life (HRQoL), satisfaction, adherence and compliance.ResultsTwenty‐one original studies (6 CT, 15 OS) were included. HRQoL was assessed by 6 (1 CT, 5 OS) studies and reported that HRQoL scores were similar in patients on DOACs and warfarin. Patients prescribed DOACs presented higher HRQoL scores which were attributed to lack of intense monitoring required compared with warfarin but this was not statistically significant. The majority of studies (5 CT, 9 OS) investigated patient‐reported satisfaction, indicating greater satisfaction with DOACs with significantly lower burden and increased benefit scores for patients on DOACs. Patient‐reported expectations, compliance and adherence were similar for patients on DOACs and warfarin.ConclusionPatients appear to prefer treatment with DOACs vs warfarin. This is shown by the higher quality of life, satisfaction and adherence described in the studies. However, heterogeneity in the analysed studies does not allow firm conclusions.
Factors related to skin health in hairdressing apprentices from two Croatian regions
Authors: Franić Zrinka , Babić Željka , Bjelajac Adrijana , Macan Jelena 
Published: May 2019

AbstractBackgroundHairdressing apprentices are at high risk for developing occupational contact dermatitis.ObjectivesThe objective of this study was to analyse whether there are differences in skin health, skin protection and health‐related quality of life between apprentices from two Croatian regions (Zagreb and Dalmatia).Materials and methodsFinal‐year hairdressing apprentices from Zagreb (n = 101) and Dalmatia (n = 77) were enrolled in the study. Clinical examination of hands was performed by use of the Osnabrück Hand Eczema Severity Index. Transepidermal water loss (TEWL) was measured on forearm and hand. A history of self‐reported skin symptoms, work‐related exposure to skin hazards and health‐related quality of life were assessed with validated questionnaires.ResultsApprentices from Zagreb reported having been engaged in practical work more days per month than Dalmatian apprentices (median 12 days vs 8 days, respectively, P < 0.001), and washing their hands >20 times per day more frequently (28% vs 10%, respectively, P = 0.004), and consequently more frequently having dry hands (37% vs 16%, respectively, P = 0.002), and significantly higher TEWL values on the hand and forearm, which was confirmed by the results obtained with multiple linear regression models.ConclusionsA higher extent of exposure to skin hazards was related to poorer skin barrier function, which confirms the need for improvement of appropriate safety practices in hairdressing schools.
Outcomes, complications, and economic impact of ABO‐incompatible living kidney transplantation: A single‐center Japanese cohort study
Authors: Kakuta Yoichi , Okumi Masayoshi , Unagami Kohei , Iizuka Junpei , Takagi Toshio , Ishida Hideki , Tanabe Kazunari 
Published: May 2019

AbstractABO‐incompatible kidney transplantation (ABO‐ILKT) has been reported to have a higher rate of early complications and higher medical costs than ABO‐compatible kidney transplantation (ABO‐CLKT). We aimed to compare the clinical outcomes, complications, and medical costs between ABO‐ILKTs and ABO‐CLKTs at 2 years post‐transplantation. We included 65 ABO‐ILKTs and 94 ABO‐CLKTs in this retrospective analysis. The patient survival, graft survival, rejection incidence, and graft function were similar between ABO‐CLKT and ABO‐ILKT. The hospitalization costs for ABO‐CLKT and ABO‐ILKT were 26 544 ± 4168 USD and 34 906 ± 18 732 USD, respectively (P = 0.0001). Total 2‐year medical costs were 77 117 ± 15 609 USD and 85 325 ± 33 997 USD for ABO‐CLKT and ABO‐ILKT, respectively, indicating that the medical costs of ABO‐ILKT recipients were non‐significantly higher than those of ABO‐CLKT recipients at 2 years post‐transplantation (P = 0.0866). ABO‐ILKT and ABO‐CLKT recipients showed similar infectious adverse events and complications. In conclusion, medical cost at 2 years post‐transplantation, including transplant hospitalization cost, and the frequency of early complications were not significantly higher in the ABO‐ILKT group than in the ABO‐CLKT group. ABO‐ILKT is an acceptable treatment for patients with ESRD and is comparable to ABO‐CLKT not only in terms of outcomes but also in terms of medical cost.
Challenging socioeconomic status: A cross‐cultural comparison of early executive function
Authors: Howard Steven J. , Cook Caylee J. , Everts Lizl , Melhuish Edward , Scerif Gaia , Norris Shane , Twine Rhian , Kahn Kathleen , Draper Catherine E. 
Published: May 2019

AbstractThe widely and internationally replicated socioeconomic status (SES) gradient of executive function (EF) implies that intervention approaches may do well to extrapolate conditions and practices from contexts that generate better child outcomes (in this case, higher SES circumstances) and translate these to contexts with comparatively poorer outcomes (often low‐SES populations). Yet, can the reverse also be true? Using data from equivalent assessments of 1,092 pre‐schoolers’ EFs in South Africa and Australia, we evaluated: the SES gradient of EF within each sample; and whether this SES gradient extended cross‐culturally. The oft‐found EF‐SES gradients were replicated in both samples. However, contrary to the inferences of EF‐SES associations found nationally, the most highly disadvantaged South African subsample outperformed middle‐ and high‐SES Australian pre‐schoolers on two of three EFs. This suggests the possibility of EF‐protective and ‐promotive practices within low‐ and middle‐income countries that may aid understandings of the nature and promotion of EFs.
Chaos, danger, and maternal parenting in families: Links with adolescent adjustment in low‐ and middle‐income countries
Authors: Deater‐Deckard Kirby , Godwin Jennifer , Lansford Jennifer E. , Tirado Liliana Maria Uribe , Yotanyamaneewong Saengduean , Alampay Liane Peña , Al‐Hassan Suha M. , Bacchini Dario , Bornstein Marc H. , Chang Lei , Di Giunta Laura , Dodge Kenneth A. , Oburu Paul , Pastorelli Concetta , Skinner Ann T. , Sorbring Emma , Steinberg Laurence , Tapanya Sombat 
Published: May 2019

AbstractThe current longitudinal study is the first comparative investigation across low‐ and middle‐income countries (LMICs) to test the hypothesis that harsher and less affectionate maternal parenting (child age 14 years, on average) statistically mediates the prediction from prior household chaos and neighborhood danger (at 13 years) to subsequent adolescent maladjustment (externalizing, internalizing, and school performance problems at 15 years). The sample included 511 urban families in six LMICs: China, Colombia, Jordan, Kenya, the Philippines, and Thailand. Multigroup structural equation modeling showed consistent associations between chaos, danger, affectionate and harsh parenting, and adolescent adjustment problems. There was some support for the hypothesis, with nearly all countries showing a modest indirect effect of maternal hostility (but not affection) for adolescent externalizing, internalizing, and scholastic problems. Results provide further evidence that chaotic home and dangerous neighborhood environments increase risk for adolescent maladjustment in LMIC contexts, via harsher maternal parenting.
Chronic Q fever associated with systemic sclerosis
Authors: Jansen Anne F. M. , Raijmakers Ruud P. H. , van Deuren Marcel , Vonk Madelon C. , Bleeker‐Rovers Chantal P. 
Published: May 2019

AbstractBackgroundAfter the Q fever outbreak in the Netherlands between 2007 and 2010, more than 300 patients with chronic Q fever have been identified. Some patients were also diagnosed with systemic sclerosis, a rare immune‐mediated disease. We aimed to increase awareness of concomitant chronic Q fever infection and systemic sclerosis and to give insight into the course of systemic sclerosis during persistent Q fever infection.Materials and methodsChronic Q fever patients were identified after the Dutch Q fever outbreak in 2007‐2010. Systemic sclerosis was diagnosed by a scleroderma expert and patients fulfilled the 2013 Classification Criteria for Systemic Sclerosis.ResultsFour cases presented with chronic Q fever, persistent Coxiella burnetii infection, shortly preceded or followed by the diagnosis of limited cutaneous systemic sclerosis. The three male patients of 60 years or older developed a relatively mild systemic sclerosis, which did not require immunosuppressive therapy during adequate treatment of the chronic Q fever infection. The 58‐year‐old female patient used immunosuppressives for her newly diagnosed systemic sclerosis at the time she likely developed a chronic Q fever infection.ConclusionsIn this case series, chronic Q fever preceding systemic sclerosis was associated with a mild course of systemic sclerosis without the necessity of immunosuppressive drugs, while chronic Q fever development due to immunocompromised state was associated with a more deteriorating course of systemic sclerosis.