bluuebunny/crossref_metadata_2025_split huggingface dataset:
Inbreeding depression for kit survival at birth in a rabbit population under long-term selection
Authors: Curik Ino , Kövér György , Farkas János , Szendrő Zsolt , Romvári Róbert , Sölkner Johann , Nagy Istvan 
Published: July 2020

Abstract
Background
Accumulation of detrimental mutations in small populations leads to inbreeding depression of fitness traits and a higher frequency of genetic defects, thus increasing risk of extinction. Our objective was to quantify the magnitude of inbreeding depression for survival at birth, in a closed rabbit population under long-term selection.

Methods
We used an information theory-based approach and multi-model inference to estimate inbreeding depression and its purging with respect to the trait ‘kit survival at birth’ over a 25-year period in a closed population of Pannon White rabbits, by analysing 22,718 kindling records. Generalised linear mixed models based on the logit link function were applied, which take polygenic random effects into account.

Results
Our results indicated that inbreeding depression occurred during the period 1992–1997, based on significant estimates of the z-standardised classical inbreeding coefficient z.FL (CI95% − 0.12 to − 0.03) and of the new inbreeding coefficient of the litter z.FNEWL (CI95% − 0.13 to − 0.04) as well as a 59.2% reduction in contributing founders. Inbreeding depression disappeared during the periods 1997–2007 and 2007–2017. For the period 1992–1997, the best model resulted in a significantly negative standardised estimate of the new inbreeding coefficient of the litter and a significantly positive standardised estimate of Kalinowski’s ancestral inbreeding coefficient of the litter (CI95% 0.01 to 0.17), which indicated purging of detrimental load. Kindling season and parity had effects on survival at birth that differed across the three periods of 1992–1997, 1997–2007 and 2007–2017.

Conclusions
Our results support the existence of inbreeding depression and its purging with respect to kit survival at birth in this Pannon White rabbit population. However, we were unable to exclude possible confounding from the effects of parity and potentially other environmental factors during the study period, thus our results need to be extended and confirmed in other populations.
Extending long-range phasing and haplotype library imputation algorithms to large and heterogeneous datasets
Authors: Money Daniel , Wilson David , Jenko Janez , Whalen Andrew , Thorn Steve , Gorjanc Gregor , Hickey John M. 
Published: July 2020

Abstract
Background
We describe the latest improvements to the long-range phasing (LRP) and haplotype library imputation (HLI) algorithms for successful phasing of both datasets with one million individuals and datasets genotyped using different sets of single nucleotide polymorphisms (SNPs). Previous publicly available implementations of the LRP algorithm implemented in AlphaPhase could not phase large datasets due to the computational cost of defining surrogate parents by exhaustive all-against-all searches. Furthermore, the AlphaPhase implementations of LRP and HLI were not designed to deal with large amounts of missing data that are inherent when using multiple SNP arrays.

Methods
We developed methods that avoid the need for all-against-all searches by performing LRP on subsets of individuals and then concatenating the results. We also extended LRP and HLI algorithms to enable the use of different sets of markers, including missing values, when determining surrogate parents and identifying haplotypes. We implemented and tested these extensions in an updated version of AlphaPhase, and compared its performance to the software package Eagle2.

Results
A simulated dataset with one million individuals genotyped with the same 6711 SNPs for a single chromosome took less than a day to phase, compared to more than seven days for Eagle2. The percentage of correctly phased alleles at heterozygous loci was 90.2 and 99.9% for AlphaPhase and Eagle2, respectively. A larger dataset with one million individuals genotyped with 49,579 SNPs for a single chromosome took AlphaPhase 23 days to phase, with 89.9% of alleles at heterozygous loci phased correctly. The phasing accuracy was generally lower for datasets with different sets of markers than with one set of markers. For a simulated dataset with three sets of markers, 1.5% of alleles at heterozygous positions were phased incorrectly, compared to 0.4% with one set of markers.

Conclusions
The improved LRP and HLI algorithms enable AlphaPhase to quickly and accurately phase very large and heterogeneous datasets. AlphaPhase is an order of magnitude faster than the other tested packages, although Eagle2 showed a higher level of phasing accuracy. The speed gain will make phasing achievable for very large genomic datasets in livestock, enabling more powerful breeding and genetics research and application.
Extracerebral choroid plexus papilloma in the pharynx with airway obstruction in a newborn: a case report
Authors: Lee Narae , Bae Mi Hye , Han Young Mi , Park Kyung Hee , Hwang Jae-Yeon , Hwang Cheong-Soo , Lee Jin-Choon , Byun Shin Yun 
Published: July 2020

Abstract
Background
Choroid plexus papillomas (CPPs) are rare, usually benign, neoplasms originating in the central nervous system. In this study, we present the first case of a giant airway-obstructing CPP in the pharynx of a newborn.

Case presentation
A cystic mass located in the pharynx was noted in a fetus at the 29th week of gestation. Elective cesarean section was performed at the 38th week of gestation with successful intubation and ex utero intrapartum treatment. On computed tomography, there was a huge airway-obstructing cystic mass in the choana and pharynx. Elective surgery with total excision was performed, and histological examination confirmed the diagnosis of CPP.

Conclusion
We report the first case of an extracerebral airway-obstructing CPP in the pharynx of a newborn. Radiologic examinations are not enough for the diagnosis of CPPs, and complete excision of the tumor with histological confirmation is indispensable for accurate diagnosis and treatment.
Role of anti-Müllerian hormone and testosterone in follicular growth: a cross-sectional study
Authors: Lv Ping-Ping , Jin Min , Rao Jin-Peng , Chen Jian , Wang Li-Quan , Huang Chang-Chang , Yang Song-Qing , Yao Qiu-Ping , Feng Lei , Shen Jin-Ming , Feng Chun 
Published: July 2020

Abstract
Background
Anti-Müllerian hormone (AMH) is now considered the best serum biomarker of ovarian reserve, while basal sex hormones are classic markers used for assessing ovarian reserve. The interaction between AMH and sex hormones are complicated and not sufficiently addressed. In this study, we took diminished ovarian reserve (DOR) and polycystic ovarian syndrome (PCOS) as two extremes of ovarian reserve (deficient and excessive respectively) to investigate the role of AMH and sex hormones in follicular growth.

Methods
A retrospective cross-sectional survey was performed. The patients assessed AMH and basal sex hormones in the Second Hospital of Zhejiang University from April 2016 to March 2019 were involved in this study. Serum AMH and sex hormone concentrations were tested with electrochemiluminescence method. Stepwise linear regression and binary logistic regression was used to determine the predictors of AMH level and to explore the involved factors determining DOR and PCOS.

Results
In the present study, we found that age and follicle-stimulating hormone (FSH) were main negative correlation factors, and luteinizing hormone (LH) and testosterone (T) were main positive factors of AMH. In DOR group, age, FSH and estradiol (E2) increased and T decreased, while in PCOS group, LH and T increased. Binary logistic regression found that age, weight, FSH, E2, and T were the significant factors which independently predicted the likelihood of DOR, and that age, body mass index (BMI), AMH, LH, and T predicted the likelihood of PCOS.

Conclusions
Our study demonstrated that age, FSH, and T were factors that most closely correlated with AMH level, and T was involved in both DOR and PCOS. Since DOR and PCOS are manifested with insufficient AMH and excessive AMH respectively, it is suggested that total testosterone correlated with AMH closely and plays an important role in follicular growth. More attention should be given to testosterone level during controlled ovarian hyperstimulation (COH) process.
When accountability meets power: realizing sexual and reproductive health and rights
Authors: Sen Gita , Iyer Aditi , Chattopadhyay Sreeparna , Khosla Rajat 
Published: July 2020

AbstractThis paper addresses a critical concern in realizing sexual and reproductive health and rights through policies and programs – the relationship between power and accountability. We examine accountability strategies for sexual and reproductive health and rights through the lens of power so that we might better understand and assess their actual working. Power often derives from deep structural inequalities, but also seeps into norms and beliefs, into what we ‘know’ as truth, and what we believe about the world and about ourselves within it. Power legitimizes hierarchy and authority, and manufactures consent. Its capillary action causes it to spread into every corner and social extremity, but also sets up the possibility of challenge and contestation.Using illustrative examples, we show that in some contexts accountability strategies may confront and transform adverse power relationships. In other contexts, power relations may be more resistant to change, giving rise to contestation, accommodation, negotiation or even subversion of the goals of accountability strategies. This raises an important question about measurement. How is one to assess the achievements of accountability strategies, given the shifting sands on which they are implemented?We argue that power-focused realist evaluations are needed that address four sets of questions about: i) the dimensions and sources of power that an accountability strategy confronts; ii) how power is built into the artefacts of the strategy – its objectives, rules, procedures, financing methods inter alia; iii) what incentives, disincentives and norms for behavior are set up by the interplay of the above; and iv) their consequences for the outcomes of the accountability strategy. We illustrate this approach through examples of performance, social and legal accountability strategies.
Using RIGHT (Reporting Items for Practice Guidelines in Healthcare) to evaluate the reporting quality of WHO guidelines
Authors: Wang Xiaoqin , Zhou Qi , Chen Yaolong , Yang Nan , Pottie Kevin , Xiao Yujie , Tong Yajing , Yao Liang , Wang Qi , Yang Kehu , Norris Susan L. 
Published: July 2020

Abstract
Background
Without adequate reporting of research, valuable time and resources are wasted. In the same vein, adequate reporting of practice guidelines to optimise patient care is equally important. Our study examines the quality of reporting of published WHO guidelines, over time, using the RIGHT (Reporting Items for Practice Guidelines in HealThcare) reporting checklist.

Methods
We examined English-language guidelines approved by the WHO Guidelines Review Committee from inception of the committee in 2007 until 31 December 2017. Pairs of independent, trained reviewers assessed the reporting quality of these guidelines. Descriptive data were summarised with frequencies and percentages.

Results
We included 182 eligible guidelines. Overall, 25 out of the 34 RIGHT items were reported in 75% or more of the WHO guidelines. The reporting rates improved over time. Further, 90% of the guidelines reported document type in the title. The identification of evidence, the rationale for recommendations and the review process were reported in more than 80% of guidelines. The certainty of the evidence using the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) system was assessed in 81% of the guidelines assessed. While 82% of guidelines reported funding sources, only 25% mentioned the role of funders.

Conclusions
WHO guidelines provide adequate reporting of many of the RIGHT items and reporting has improved over time. WHO guidelines compare favourably to guidelines produced by other organisations. However, reporting can be further improved in a number of areas.
A critical interpretive synthesis of the roles of midwives in health systems
Authors: Mattison Cristina A. , Lavis John N. , Wilson Michael G. , Hutton Eileen K. , Dion Michelle L. 
Published: July 2020

AbstractBackgroundMidwives’ roles in sexual and reproductive health and rights continues to evolve. Understanding the profession’s role and how midwives can be integrated into health systems is essential in creating evidence-informed policies. Our objective was to develop a theoretical framework of how political system factors and health systems arrangements influence the roles of midwives within the health system.MethodsA critical interpretive synthesis was used to develop the theoretical framework. A range of electronic bibliographic databases (CINAHL, EMBASE, Global Health database, HealthSTAR, Health Systems Evidence, MEDLINE and Web of Science) was searched through to 14 May 2020 as were policy and health systems-related and midwifery organisation websites. A coding structure was created to guide the data extraction.ResultsA total of 4533 unique documents were retrieved through electronic searches, of which 4132 were excluded using explicit criteria, leaving 401 potentially relevant records, in addition to the 29 records that were purposively sampled through grey literature. A total of 100 documents were included in the critical interpretive synthesis. The resulting theoretical framework identified the range of political and health system components that can work together to facilitate the integration of midwifery into health systems or act as barriers that restrict the roles of the profession.ConclusionsAny changes to the roles of midwives in health systems need to take into account the political system where decisions about their integration will be made as well as the nature of the health system in which they are being integrated. The theoretical framework, which can be thought of as a heuristic, identifies the core contextual factors that governments can use to best leverage their position when working to improve sexual and reproductive health and rights.
Partnering and parenting transitions in Australian men and women: associations with changes in weight, domain-specific physical activity and sedentary behaviours
Authors: Tian Jing , Smith Kylie J. , Cleland Verity , Gall Seana , Dwyer Terence , Venn Alison J. 
Published: July 2020

Abstract
Background
Partnering and parenting are important life-stage transitions often accompanied by changes in social networks, roles and responsibilities. There have been no longitudinal studies examining associations of partnering and parenting with changes in domain-specific physical activity (PA) and sedentary behaviours, and our understanding of whether these transitions are associated with weight change is limited.

Methods
Two thousand one hundred and twenty-four Australian adults from a national cohort (mean age 31.7 (2.7) years, 47.5% male) completed questionnaires at baseline (2004–06) and follow-up (2009–11), reporting marital and parental status. Weight (kg) was measured at baseline and self-reported at follow-up. PA and sedentary behaviours (sitting and television (TV) viewing) were self-reported in a subset (n = 1221). Linear regression estimated the longitudinal associations of parenting and partnering transitions with PA, sedentary behaviours and weight at follow-up, adjusted for baseline value of the respective outcome variable, age, education, follow-up duration and other life-stage transition.

Results
During the 5-year follow-up, 17.3% men and 12.9% women partnered, and 27.3% men and 19.1% women had their first child. Compared to staying not partnered, partnering was associated with an increase in total PA (177.5mins/week, 95% Confidence Interval (CI) 18.0 to 337.0) among men and a greater weight gain (2.2 kg, 95% CI 0.6 to 3.7) among women. Compared to remaining child-free, having a first child was associated with greater reductions in total PA (− 123.9mins/week, 95% CI − 248.8 to 1.1) and TV viewing time (− 27.0mins/day, 95% CI − 50.6 to − 3.3) among men. Women who had their first child had greater weight gain (1.4 kg, 95% CI 0.1 to 2.7) but spent less time sitting (− 103.8mins/day, 95% CI − 135.5 to − 72.1) than those remaining child-free. For women, having additional children was associated with less sitting time (− 39.4mins/week, 95% CI − 66.0 to − 12.8) than having the same number of children.

Conclusions
Partnering was associated with an increase in men’s total PA and women’s weight. Transitions into parenthood with a first child or additional children were associated with potentially health-impairing changes in weight and PA, but health-promoting changes in sedentary behaviours. Future PA promotion strategies should pay attention to men who had their first child to mitigate declining total PA.
Health technology assessment and priority setting for universal health coverage: a qualitative study of stakeholders’ capacity, needs, policy areas of demand and perspectives in Nigeria
Authors: Uzochukwu Benjamin S. C. , Okeke Chinyere , O’Brien Niki , Ruiz Francis , Sombie Issiaka , Hollingworth Samantha 
Published: July 2020

Abstract
Introduction
Health technology assessment (HTA) is an effective tool to support priority setting and generate evidence for decision making especially en route to achieving universal health coverage (UHC). We assessed the capacity needs, policy areas of demand, and perspectives of key stakeholders for evidence-informed decision making in Nigeria where HTA is still new.

Methods
We surveyed 31 participants including decision makers, policy makers, academic researchers, civil society organizations, community-based organizations, development partners, health professional organizations. We revised an existing survey to qualitatively examine the need, policy areas of demand, and perspectives of stakeholders on HTA. We then analyzed responses and explored key themes.

Results
Most respondents were associated with organizations that generated or facilitated health services research. Research institutes highlighted their ability to provide expertise and skills for HTA research but some respondents noted a lack of human capacity for HTA. HTA was considered an important and valuable priority-setting tool with a key role in the design of health benefits packages, clinical guideline development, and service improvement. Public health programs, medicines and vaccines were the three main technology types that would especially benefit from the application of HTA. The perceived availability and accessibility of suitable local data to support HTA varied widely but was mostly considered inadequate and limited. Respondents needed evidence on health system financing, health service provision, burden of disease and noted a need for training support in research methodology, HTA and data management.

Conclusion
The use of HTA by policymakers and communities in Nigeria is very limited mainly due to inadequate and insufficient capacity to produce and use HTA. Developing sustainable and institutionalized HTA systems requires in-country expertise and active participation from a range of stakeholders. Stakeholder participation in identifying HTA topics and conducting relevant research will enhance the use of HTA evidence produced for decision making. Therefore, the identified training needs for HTA and possible research topics should be considered a priority in establishing HTA for evidence-informed policy making for achieving UHC particularly among the most vulnerable people in Nigeria.
Dosimetric comparison between RapidArc and HyperArc techniques in salvage stereotactic body radiation therapy for recurrent nasopharyngeal carcinoma
Authors: Ho Hsiu-Wen , Lee Steve P. , Lin Hisu-Man , Chen Hsiao-Yun , Huang Chun-Chiao , Wang Shih-Chang , Yang Ching-Chieh , Lin Yu-Wei 
Published: July 2020

Abstract
Background
To evaluate dosimetric differences of salvage irradiations using two commercially available volumetric modulated arc therapy (VMAT) stereotactic body radiation therapy (SBRT) techniques: RapidArc (RA) and HyperArc (HA), for recurrent nasopharyngeal carcinoma (NPC) after initial radiation therapy.

Methods
Ten patients with recurrent NPC status previously treated with radiation therapy were considered suitable candidates for salvage SBRT using VMAT approach. Two separate treatment plans were created with HA and RA techniques for each case, with dosimetric outcomes compared with respect to tumor target coverage and organs-at-risk (OARs) sparing. Furthermore, the cumulative radiobiological effects to the relevant OARs from the original radiotherapy to the respective salvage SBRT plans were analyzed in terms of biologically effective dose (BED).

Results
Treatment with HA exhibited similar target dose coverage as with RA, while delivering a higher mean dose to the targets. Using RA technique, the mean maximal doses to optic apparatus and the mean brain dose were reduced by 1 to 1.5 Gy, comparing to HA technique. The conformity index, gradient radius, and intermediate dose spillage in HA plans were significantly better than those in RA. With HA technique, the volume of brain receiving 12 Gy or more was reduced by 44%, comparing to RA technique. The cumulative BEDs to spinal cord and optic apparatus with RA technique were 1 to 2 Gy3 less than those with HA. HA technique significantly reduced the volume within body that received more than 100 Gy.

Conclusions
With better dose distribution than RA while maintaining sufficient target dose coverage, HA represents an attractive salvage SBRT technique for recurrent NPC.
Prenatal diagnosis of rearrangements in the fetal 22q11.2 region
Authors: Li Suping , Jin Yuxia , Yang Jing , Yang Li , Tang Ping , Zhou Chiyan , Wu Liping , Dong Jinhua , Chen Jie , Shen Huaxiang 
Published: July 2020

Abstract
Background
22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the prenatal detection rate for these two syndromes in the Chinese population.

Results
We recruited 411 pregnant women who showed either abnormal prenatal ultrasound findings or positive prenatal BoBs™ results or who had given birth to a child with chromosomal abnormalities. SNP-array analysis and interphase FISH analysis identified five fetuses with 22q11.2 copy number variants (CNVs), three of which were 22q11.2 deletion syndrome (22q11.2DS) (3/411) and two of which were 22q11.2 duplication syndrome (22q11.2DupS). In all 5 cases of diagnosed 22q11.2 abnormalities, inheritance could not be identified because the parents did not undergo further testing.

Conclusion
Our case reports provide a detection rate of 22q11.2 CNVs for fetuses with prenatal diagnostic indications, and early diagnosis of these two syndromes was essential for prenatal intervention in these cases. SNP-array technology is an effective tool in the prenatal diagnosis of 22q11.2 CNVs. The prenatal diagnosis of these two syndromes is helpful for early intervention, which is of great clinical significance.