bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of novel susceptibility loci for non‐syndromic cleft lip with or without cleft palate
Authors: Ma Lan , Lou Shu , Miao Ziyue , Yao Siyue , Yu Xin , Kan Shiyi , Zhu Guirong , Yang Fan , Zhang Chi , Zhang Weibing , Wang Meilin , Wang Lin , Pan Yongchu 
Published: October 2020

AbstractAlthough several genome‐wide association studies (GWAS) of non‐syndromic cleft lip with or without cleft palate (NSCL/P) have been reported, more novel association signals are remained to be exploited. Here, we performed an in‐depth analysis of our previously published Chinese GWAS cohort study with replication in an extra dbGaP case‐parent trios and another in‐house Nanjing cohort, and finally identified five novel significant association signals (rs11119445: 3’ of SERTAD4, P = 6.44 × 10−14; rs227227 and rs12561877: intron of SYT14, P = 5.02 × 10−13 and 2.80 × 10−11, respectively; rs643118: intron of TRAF3IP3, P = 4.45 × 10−6; rs2095293: intron of NR6A1, P = 2.98 × 10−5). The mean (standard deviation) of the weighted genetic risk score (wGRS) from these SNPs was 1.83 (0.65) for NSCL/P cases and 1.58 (0.68) for controls, respectively (P = 2.67 × 10−16). Rs643118 was identified as a shared susceptible factor of NSCL/P among Asians and Europeans, while rs227227 may contribute to the risk of NSCL/P as well as NSCPO. In addition, sertad4 knockdown zebrafish models resulted in down‐regulation of sox2 and caused oedema around the heart and mandibular deficiency, compared with control embryos. Taken together, this study has improved our understanding of the genetic susceptibility to NSCL/P and provided further clues to its aetiology in the Chinese population.
Contributions of PARP‐1 rs1136410 C>T polymorphism to the development of cancer
Authors: Li Hunian , Zha Yongjiu , Du Fang , Liu Jie , Li Xiaoquan , Zhao Xu 
Published: October 2020

AbstractPoly(ADP‐ribose) polymerase‐1 (PARP‐1) is a nuclear chromatin‐associated enzyme involved in the DNA damage response. SNP rs1136410 C>T, the most studied polymorphism in PARP‐1 gene, is highly implicated in the susceptibility of cancer. However, the roles of PARP‐1 rs1136410 C>T on cancer risk vary from different studies. We comprehensively screened all qualified publications from several databases, including PubMed, EMBASE, MEDLINE, CNKI and Wanfang. The searching was updated to April 2020. Our meta‐analysis included 60 articles with 65 studies, comprised of a total of 23 996 cases with cancer and 33 015 controls. Overall, pooled data showed that the PARP‐1 rs1136410 C>T polymorphism was significantly but a border‐line associated with an increased risk of overall cancer (CC vs. TT/TC: OR = 1.11, 95% CI = 1.00‐1.24; C vs T: OR = 1.07, 95% CI = 1.01‐1.14). Subgroup analysis indicated that rs1136410 C allele contributed to high risk among gastric, thyroid, and cervical cancer, but lower risk among brain cancer. Furthermore, increased cancer risk was detected in the subgroups of Asian, controls from population‐based design studies, and HWE ≤ 0.05 studies. Sensitivity analysis and Egger's test showed that results of the meta‐analysis were fairly stable. The current study indicated that PARP1 rs1136410 C>T polymorphism may have an impact on certain types of cancer susceptibility.
Acetate: Friend or foe against breast tumour growth in the context of obesity?
Authors: Yelek Caner , Mignion Lionel , Joudiou Nicolas , Terrasi Romano , Gourgue Florian , Van Hul Matthias , Delzenne Nathalie , Gallez Bernard , Corbet Cyril , Muccioli Giulio G. , Feron Olivier , Cani Patrice D. , Jordan Bénédicte F. 
Published: October 2020

AbstractAcetate is reported as a regulator of fat mass but also as lipogenic source for cancer cells. Breast cancer is surrounded by adipose tissue and has been associated with obesity. However, whether acetate contributes to cancer cell metabolism as lipogenic substrate and/or by changing fat storage and eventually obesity‐induced breast cancer progression remains unknown. Therefore, we studied the contribution of acetate to breast cancer metabolism and progression. In vitro, we found that acetate is not a bioenergetic substrate under normoxia and did not result in a significant change of growth. However, by using lipidomic approaches, we discovered that acetate changes the lipid profiles of the cells under hypoxia. Moreover, while mice fed a high‐fat diet (HFD) developed bigger tumours than their lean counterparts, exogenous acetate supplementation leads to a complete abolishment of fat mass gain without reverting the HFD‐induced obesity‐driven tumour progression. In conclusion, although acetate protects against diet‐induced obesity, our data suggest that it is not affecting HFD‐driven tumour progression.
The effect of cardiac rehabilitation program on functional capacity and waist to hip ratio in patients with coronary artery disease: A clinical trial
Authors: Sahabazi Deh Sokhteh Azam , Pishkar Zahra , Rafizadeh Omid , Yaghoubinia Fariba 
Published: October 2020

AbstractAimsThis study aimed to determine the impact of cardiac rehabilitation programs on functional capacity and waist to hip ratio in coronary artery disease (CAD) patients.MethodsIn this clinical trial study 70 CAD patients were selected using purposive sampling and based on inclusion criteria. The intervention consisted of a 12‐week training and exercise program included walking sessions at home at least three times a week. The 6‐min walk test (6MWT) was conducted to measure the functional capacity and waist to hip ratio (WHR), as the anthropometric index, in both groups before and after the intervention. Data were analyzed in SPSS 21 using independent t test, paired t test, and Chi‐square test.ResultsThe mean distance traveled in the 6MWT was 297.30 m and 283.55 in intervention and control groups respectively before the intervention. After the intervention, this distance was 509.03 and 389.91 m in intervention and control groups respectively, suggesting a significant difference between the two groups (p < .001). The mean WHR was 0.8648 and 0.8403 in intervention and in control respectively before the intervention. After the intervention, this value became 0.7985 and 0.8555 in intervention and control groups respectively and showed significant difference (p < .001).ConclusionsThe cardiac rehabilitation program improved the ability of patients in the 6MWT and enhanced their functional capacity and reduced the mean WHR, which in turn evinces the improvement of the anthropometric index and mitigation of risk factors in CAD patients. So, healthcare providers can deploy such rehabilitation programs to empower patients, alleviate disease complications, and reduce individual and social costs of cardiovascular diseases.
Metabolic Predictors of High‐ vs. Low‐Oxytocin Requirements During Labor Induction
Authors: Carlson Nicole S. , Frediani Jennifer K. , Corwin Elizabeth J. , Dunlop Anne , Jones Dean 
Published: October 2020

IntroductionThe purpose of this study was to evaluate differences in the metabolic pathways activated in late‐pregnancy serum samples among African American women who went on to have term (≥37 weeks) labor induction requiring high total oxytocin doses to complete first‐stage labor compared to those in similar women with low‐oxytocin labor inductions.MethodsCase–control study (N = 27 women with labor induction with successful cervical ripening: 13 requiring the highest total doses of synthetic oxytocin to progress from 4‐ to 10‐cm cervical dilation and 14 requiring the lowest total doses) with groups balanced on parity and gestational age. Serum samples obtained between 24 and 30 weeks’ gestation were analyzed using ultra‐high‐resolution metabolomics. Differentially expressed metabolites between high‐oxytocin induction cases and low‐oxytocin induction comparison subjects were evaluated using linear regression with xmsPANDA. Metabolic pathways analysis was conducted using Mummichog Version 2.0, with discriminating metabolites annotated using xMSannotator Version 1.3.ResultsLabor processes were similar by group with the exception that cases received over 6 times more oxytocin between 4‐ and 10‐cm cervical dilation than comparison women. Induction requiring high total doses of synthetic oxytocin was associated with late‐pregnancy serum levels of metabolites from the linoleate and fatty acid activation pathways in term, African American women.DiscussionSerum levels of several lipid metabolites predicted more complicated labor induction involving higher doses of synthetic oxytocin to complete first‐stage labor. Further investigation in larger, more diverse cohorts of women is needed to identify potential targets to prevent failed labor induction.Reprinted with permission. Carlson NS, Frediani JK, Corwin EJ, Dunlop A, Jones D., Metabolic pathways associated with term labor in African‐American women. Biol Res Nurs. 2020;22(2):157‐168.
Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH
Authors: Boso Federica , Zanette Giampietro , Baldinotti Fulvia , Bertelloni Silvano , Taioli Federica , Monaco Salvatore , Fabrizi Gian Maria , Cavallaro Tiziana 
Published: October 2020

AbstractMinifascicular neuropathy (MN) is a rare, autosomal recessive disease with prominent structural changes of peripheral nerves. So far, it has been observed in females with a 46,XY karyotype and mutations of the Desert Hedgehog (DHH) gene, thus linking MN to gonadal dysgenesis (GD) and disorders of sex development (DSD). However, a 46,XX proband with normal female sex and gender development underwent clinical evaluations, nerve conduction studies and genetic screening for a severe motor‐sensory neuropathy with a pathological phenotype that hinted at MN. Indeed, sural nerve biopsy revealed a profound disturbance of perineurium development with a thin and loose structure. High‐resolution ultrasound (HRUS) also disclosed diffuse changes of nerve echotexture that visibly correlated with the pathological features. After extensive genetic testing, a novel homozygous DHH null mutation (p.Ser185*) was identified in the proband and in her sister, who was affected by a similar motor‐sensory neuropathy, but was eventually found to be a 46,XY patient according to a late diagnosis of DSD with complete GD. DHH should therefore be considered as a possible cause of rare non‐syndromic hereditary motor‐sensory neuropathies, regardless of DSD. Furthermore, HRUS could effectively smooth the complex diagnostic workup as it demonstrated a high predictive power to detect MN, providing the same detailed correlations to the pathologic features of the nerve biopsy and Dhh−/− mice in both sisters. Hence, HRUS may assume a pivotal role in guiding molecular analysis in individuals with or without DSD.
Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56
Authors: Legrand A. , Pujol C. , Durand C. M. , Mesnil A. , Rubera I. , Duranton C. , Zuily S. , Sousa A. B. , Renaud M. , Boucher J. L. , Pietrancosta N. , Adham S. , Orssaud C. , Marelli C. , Casali C. , Ziccardi L. , Villain N. , Ewenczyk C. , Durr A. , Mignot C. , Stevanin G. , Billon C. , Hureaux M. , Jeunemaitre X. , Goizet C. , Albuisson J. 
Published: October 2020

AbstractPurposePseudoxanthoma elasticum (PXE) is a recessive disorder involving skin, eyes and arteries, mainly caused by ABCC6 pathogenic variants. However, almost one fifth of patients remain genetically unsolved despite extensive genetic screening of ABCC6, as illustrated in a large French PXE series of 220 cases. We searched for new PXE gene(s) to solve the ABCC6‐negative patients.MethodsFirst, family‐based exome sequencing was performed, in one ABCC6‐negative PXE patient with additional neurological features, and her relatives. CYP2U1, involved in hereditary spastic paraplegia type 56 (SPG56), was selected based on this complex phenotype, and the presence of two candidate variants. Second, CYP2U1 sequencing was performed in a retrospective series of 46 additional ABCC6‐negative PXE probands. Third, six additional SPG56 patients were evaluated for PXE skin and eye phenotype. Additionally, plasma pyrophosphate dosage and functional analyses were performed in some of these patients.Results6.4% of ABCC6‐negative PXE patients (n = 3) harboured biallelic pathogenic variants in CYP2U1. PXE skin lesions with histological confirmation, eye lesions including maculopathy or angioid streaks, and various neurological symptoms were present. CYP2U1 missense variants were confirmed to impair protein function. Plasma pyrophosphate levels were normal. Two SPG56 patients (33%) presented some phenotypic overlap with PXE.ConclusionCYP2U1 pathogenic variants are found in unsolved PXE patients with neurological findings, including spastic paraplegia, expanding the SPG56 phenotype and highlighting its overlap with PXE. The pathophysiology of ABCC6 and CYP2U1 should be explored to explain their respective role and potential interaction in ectopic mineralization.
Moderation of associations between interparental stress and (mal)adaptation by adolescents' personality: Contrasting differential susceptibility and diathesis–stress models
Authors: van Eldik Willemijn M. , de Haan Amaranta D. , Arends Lidia R. , Prinzie Peter 
Published: October 2020

AbstractObjectiveThis study aimed to contrast differential susceptibility and diathesis–stress models in examining adolescents' Big Five personality dimensions as moderators of longitudinal associations between interparental stress and (mal)adaptation in emerging adulthood (i.e., self‐efficacy, externalizing and internalizing behavior).MethodData from the large longitudinal Flemish Study on Parenting, Personality and Development were used (475 families, adolescents' Mage = 15.82, SDage = 1.15), with both parents reporting on their interparental stress and mothers reporting on the adolescent's personality and in 2009, and emerging adults reporting on their own (mal)adaptive functioning in 2009 and 2015 and their personality in 2015.ResultsMultivariate models showed that extraversion, benevolence, emotional stability and imagination were uniquely related to (mal)adaptation across the 6‐year interval. In general, our results exhibited no consistent moderating role for adolescents' personality. Only for girls, high levels of extraversion functioned as a “susceptibility maker” in associations between father's interparental stress and self‐efficacy, and, low levels of emotional stability functioned as a “vulnerability marker” in associations between parents' interparental stress and self‐efficacy.ConclusionsThe interaction effects as well as their (restricted) generalizability across gender should be replicated before drawing firm conclusions. Adolescents' personality characteristics were important predictors of (mal)adaptation during the transition into emerging adulthood.
Thinking inside the box: Optimal policy towards a footloose R&D‐intensive firm
Authors: Dewit Gerda , Leahy Dermot 
Published: October 2020

AbstractWe derive the optimal policy mix of Research and Development (R&D)‐subsidies and corporate tax rates towards a footloose R&D‐intensive firm. Increasing R&D‐subsidies strengthens the firm's incentive to offshore production. The firm's home government can offset this by offering an appropriate corporate tax concession. The optimal policy package exhibits a “Matthew principle”: higher R&D‐subsidies should typically be accompanied by lower tax rates. However, if the R&D‐subsidy exceeds a crucial threshold, a tax concession can no longer prevent offshoring. We find that it is never optimal to raise tax rates as R&D‐subsidies increase.
Labor market regulation under self‐enforcing contracts
Authors: Avcioglu Sahin , Karabay Bilgehan 
Published: October 2020

AbstractThis paper examines the effects of various labor market institutions (policies) on the welfare of workers and employers. We consider self‐enforcing contracts between risk‐averse workers and risk‐neutral employers in a labor market with search frictions. Employers promise to smooth out shocks to wages while workers promise long‐term commitment to employers. In this environment, regulatory policies can make it easier or harder for employers to keep their promise of wage smoothing, thus influencing the benefit accruing to each party. In our approach, we analyze the joint effect of policies by distinguishing between the financing and spending of funds used in the regulation of the labor market. With regard to financing, layoff tax strictly dominates hiring and payroll taxes on efficiency grounds, whereas the relative ranking of hiring and payroll taxes depend on the type of equilibrium that realizes. On the spending side, while unemployment payment increases workers' welfare at the expense of employers, in‐work benefit in the form of a one‐off wage subsidy leaves workers' welfare intact but may increase the welfare of employers.
Household tax evasion
Authors: Hashimzade Nigar , Myles Gareth D. , Yousefi Hana 
Published: October 2020

AbstractHousehold members share public goods and make intra‐household transfers. We show how these features of the household interact with the tax evasion decision, and identify the dimensions in which household evasion differs from individual evasion. In the model we present two members of a household choose how much to contribute to a household public good and how much self‐employment income to evade. We are interested in how different evasion possibilities interact with the contribution decisions to the household public good and the role of income transfers within the household. We show the household evasion decision differs from the individual decision because it affects the outcome of the household contribution game. When household members are taxed as individuals neutrality applies when choices are not constrained. If the evasion level of one household member is constrained then an income transfer can generate a Pareto improvement. When the household members are jointly taxed there is a couple constraint on strategies and corner solutions can emerge.
Public provisions of professional services
Authors: Szczygielski Krzysztof 
Published: October 2020

AbstractProfessional services are credence goods provided by certified experts (professionals). The most prominent examples of professional services are medical or legal services. Interestingly, the markets for such services are often subject to partial public provision: there is a low‐end segment, where the services of basic quality are provided for free and professionals are reimbursed by the government, and a high‐end segment, where free‐market principles prevail. We examine the efficiency of this market structure. To this end we apply a modified version of the model of the market for goods with credence attributes proposed by Baron. We demonstrate that partial public provision can correct for the market failure caused by the credence good nature of professional services, even in the presence of regulation costs. The efficiency gain from partial public provision is due to a combination of quality and price effects.
Giblets and abdominal fat of pomegranate seed oil fed chickens as a source of bioactive fatty acids
Authors: Białek Agnieszka , Białek Małgorzata , Czerwonka Małgorzata , Lepionka Tomasz , Tytz Natalia , Kucharczyk Karolina , Tober Elżbieta , Kaszperuk Karol , Banaszkiewicz Teresa 
Published: October 2020

AbstractThe aim of present study was to determine whether chickens’ (broilers Ross 308, n = 180, sex ratio 1:1) diet modification with different doses of grape or pomegranate seed oil will favourable change fatty acids and cholesterol content in selected giblets (liver and heart) or wastes (adipose tissue). It was also verify whether generated changes would make the giblets and wastes more valuable as dietary components or by‐products for food industry. From 22 to 42 day of life, five diets were administered to chickens. Control grower diet (CON) contained 5% of soy oil, whereas in the experimental grower diets part of soy oil (1.5% or 2%) was replaced with specific amount of grape or pomegranate seed oil (GRAP 1.5; GRAP 2.0; POM 1.5; POM 2.0 respectively). Fatty acids and cholesterol content were determined with gas chromatography with flame‐ionization detection. Pomegranate seed oil improved fatty acids profile more favourably than grape seed oil, which makes it a valuable additive in chickens’ feeding. Abdominal fat of pomegranate seed oil supplemented chickens appeared to be the richest sources of rumenic acid and n3 polyunsaturated fatty acids, which allows to suggest its use in manufacturing of meat products to obtain foodstuffs rich in those essential nutrients. In principal component analysis (PCA), two principal components: PC1 and PC2, which were enough to explain 29.91% of variance of initial variables, allowed to a good separation of chickens fed with both doses of pomegranate seed oil from animals from control and grape seed oil fed groups. Because poultry addresses all nutritional, institutional and consumer requirements, enrichment of giblets in rumenic acid by pomegranate seed oil incorporation into chickens’ diet may provide a valuable dietary source of bioactive fatty acids for consumers, especially of low‐income countries.
Stress in client‐owned dogs related to clinical exam location: a randomised crossover trial
Authors: Mandese W. W. , Griffin F. C. , Reynolds P. S. , Blew A. C. , Deriberprey A. S. , Estrada A. H. 
Published: October 2020

Objectives
To quantify the effects of wellness examinations conducted in the common treatment area on fear, anxiety and stress indicators in client‐owned dogs.Materials and Methods
The study was a prospective, non‐blinded, randomised, two‐period two‐treatment crossover trial. Client‐owned healthy adult dogs presenting for wellness or dental evaluations at a single veterinary teaching hospital received three consecutive rapid assessment exams; a baseline exam (owner present), followed by two identical physical exams differing in location and presented in random order (isolated exam room with owner present versus common treatment area, owner absent). Primary endpoints were a cumulative fear, anxiety and stress score for five standardised behaviours and heart rate (bpm) measured for each exam.Results
Forty‐four dogs were enrolled. Modal fear, anxiety and stress score at baseline was 1 of 5, indicating none to mild stress. Both fear, anxiety and stress and heart rates measured in the common treatment area were clinically elevated relative to assessments conducted in the exam room. Relative to baseline, animals examined in the common treatment area showed increased fear, anxiety and stress (+2.6 units, se 0.5; P<0.0001) and heart rate (20 bpm, 95% confidence interval 13, 28; P<0.0001. Twenty‐eight dogs (64%) exhibited fear, anxiety and stress scores ≥3 of 5 (moderate to severe stress) in the common treatment area, compared to 19 (43%) during exam room assessments.Clinical Significance
Stress assessments in this study may have been biased by inability to blind assessors to location. However, stress metrics showed clinically significant, consistent and directionally symmetrical increases when dogs were examined in the common treatment area. When physical exam locations are highly stimulating, dogs may experience increased stress and anxiety, with detrimental effects on clinical assessments and behavioural welfare. Whenever possible, physical exams and procedures should take place in low‐stress environments with the owner present.