bluuebunny/crossref_metadata_2025_split huggingface dataset:
Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations
Authors: Rees Elliott , Creeth Hugo , Hwu Hai-Gwo , Chen Wei , Tsuang Ming , Glatt Stephen , Rey Romain , Kirov George , Walters James , Holmans Peter , Owen Sir Michael , O'Donovan Michael 
Published: September 2020

Abstract
Genes enriched for rare disruptive coding variants in schizophrenia overlap those in which disruptive mutations are associated with neurodevelopmental disorders (NDDs), particularly autism spectrum disorders and intellectual disability. However, it is unclear whether this implicates the same specific variants, or even variants with the same functional effects on shared risk genes. Here, we show that de novo mutations in schizophrenia are generally of the same functional category as those that confer risk for NDDs, and that the specific de novo mutations in NDDs are enriched in schizophrenia. These findings indicate that, in part, NDDs and schizophrenia have shared molecular aetiology, and therefore likely overlapping pathophysiology. We also observe pleiotropic effects for variants known to be pathogenic for several syndromic developmental disorders, suggesting that schizophrenia should be included among the phenotypes associated with these mutations. Collectively, our findings support the hypothesis that at least some forms of schizophrenia lie within a continuum of neurodevelopmental disorders.
Prognostic Factors of Time to First Abortion After Sexual Debut Among Fragile State Congolese Women: A Survival Analysis
Authors: Ekholuenetale Michael , Ekholuenetale Charity Ehimwenma , Barrow Amadou 
Published: September 2020

Abstract

Background: Despite the common restrictive abortion laws, abortion remains widespread in sub-Saharan Africa (SSA) countries. Women still utilize abortion services and put their lives and health at risk because abortion can only be procured illegally in private facilities such as mid-level or small patent medicine store that may be manned by unskilled providers or through a non-medicated approach. The objective of this study was to determine median years and factors of time to first abortion after sexual debut among Congolese women.Methods: We used data from the most recent Republic of Congo Demographic and Health Survey (DHS). A total sample of 3,622 women aged 15-49 years was analyzed. We estimated the overall prevalence of abortion and median years to first abortion. Furthermore, we examined the factors of time to first abortion after sexual debut using multivariable Cox regression and reported the estimates using adjusted Hazard Ratio (aHR) and 95% confidence intervals (CI). Statistical significance was determined at p<0.05.Results: The prevalence of abortion was 60.0% and median years of time to first abortion after sexual debut was 9.0. The prominent reasons for abortion were due to too short birth interval (23.8%), lack of money (21.0%) and that husband/partner did not need a child at that time (14.0%). Women’s age and region were notable factors in timing to first abortion. Furthermore, women from poorer, middle, richer and richest households had 34%, 67%, 86% and 94% higher risk of abortion respectively, when compared with women from poorest households. Women currently in union/living with a man and formerly in union had 41% and 29% reduction in the risk of abortion respectively, when compared with those never in union. In addition, women with primary and secondary+ education had 42% and 76% higher risk of abortion respectively, when compared with women with no formal education. Conclusion: There was high prevalence of abortion with short years at first abortion. Abortion was associated with women’s characteristics. There is need for unwanted pregnancy prevention intervention and the improvement in pregnancy care to reduce adverse pregnancy outcomes among women.
The Influence of Empowered Work Environments on the Psychological Experiences of Nursing Assistants During COVID-19: A Qualitative Study
Authors: Travers Jasmine , Schroeder Krista , Norful Allison A. , Aliyu Sainfer 
Published: September 2020

Abstract
Background: Nursing Assistants (NA) who feel empowered tend to perform their duties better, have higher morale and job satisfaction, and are less likely to leave their jobs. Organizational empowerment practices in hospitals likely shape the psychological experiences of empowerment among these personnel; however, little is known about this relationship.Objective: We used qualitative inquiry to explore the relationship between organizational empowerment structural components and feelings of psychological empowerment among hospital frontline workers during a public health emergency.Methods: Kanter’s Theory of Structural Empowerment and Spreitzer’s Psychological Empowerment in the Workplace Framework were applied to identify the conceptual influences of organizational practices on psychological experiences of empowerment. In-depth interviews were conducted with a convenience sample of NAs, caring for hospitalized COVID-19 patients. Directed content analysis was performed to generate a data matrix consisting of the psychological experiences of meaning, competence, self-determination, and impact embedded under the organizational structural components of information, resources, support, and opportunity.Results: Thirteen NAs (mean age = 42 years, 92% female) completed interviews. Information, or lack thereof, provided to the NAs influenced feelings of fear, preparation, and autonomy. Resources (e.g., protocols, equipment, and person-power) made it easier to cope with overwhelming emotions, affected the NAs’ abilities to do their jobs, and when limited, drove NAs to take on new roles. NAs noted that support was mostly provided by nurses and made the NAs feel appreciated, desiring to contribute more. While NAs felt they could consult leadership when needed, several felt leadership showed little appreciation for their roles and contributions. Similar to support, the opportunity to take care of COVID-19 patients yielded a diverse array of emotions, exposed advances and gaps in NA preparation, and challenged NAs to autonomously develop new care practices and processes.Conclusion: Management and empowerment of healthcare workers are critical to hospital performance and success. We found many ways in which the NAs’ psychological experiences of empowerment were shaped by the healthcare system’s empowerment-related structural conditions during a public health emergency. To further develop an empowered and committed critical workforce, hospitals must acknowledge the organizational practice influence on the psychological experiences of empowerment among NAs.
Radiological Staging of Rectal Cancer in a Resource Limited Setting
Authors: Lokuhetty Naradha , Seneviratne Suranjith L , Rahman Fathima Asma , Marapana Thanushka , Niloofa Roshan , De Zoysa Ishan 
Published: September 2020

Abstract
Objective: Current guidelines on Rectal Cancer (RC) management recommend pre-operative MRI for loco-regional staging and CT for staging of metastases. This allows appropriate selection of patients for chemo-radiotherapy (CRT). However, MRI is not freely available in many low-income countries. We assessed the status of pre-operative imaging for RC in Sri Lanka and evaluated the performance of CT in RC staging. Results: A pre-tested interview-administered questionnaire was used to assess the pre-operative use of MRI and CT in RC. CT findings from 37 RC patients were then compared with histopathology findings. Of the 64 surgeons interviewed, 57 (89.1%) did not request an MRI for their RC patients. Reasons cited limited availability and long waiting times due to competing health needs. A CT was requested by all. In RC, the overall accuracy of CT for T staging was 43.2% and 29.7% of T1-T2 tumours were over-staged as T3. The overall accuracy of CT for regional lymph node staging was 70.3%. In summary, CT alone is not suitable for RC staging in any setting. It leads to over-staging and patients may thus receive unnecessary CRT. Steps must be taken to improve access to pre-operative MRI among Sri Lankan RC patients.
Comparative Genomics Reveals Broad Genetic Diversity, Extensive Recombination and Nascent Ecological Adaptation in Micrococcus luteus
Authors: Li Yisong , Sun Zhong-Zhi , Rong Jin-Cheng , Xie Bin-Bin 
Published: September 2020

Abstract
Background: Micrococcus luteus is a group of actinobacteria that is widely used in biotechnology and is being thought as an emerging nosocomial pathogen. With one of the smallest genomes of free-living actinobacteria, it is found in a wide range of environments, but intraspecies genetic diversity and adaptation strategies to various environments remain unclear. Here, comparative genomics, phylogenomics, and genome-wide association studies (GWAS) were used to investigate the genomic diversity, evolutionary history, and the potential ecological differentiation of the species.Results: High-quality genomes of 66 M. luteus strains were downloaded from the NCBI GenBank database and core and pangenome analysis revealed a considerable intraspecies heterogeneity. Phylogenomic analysis, gene content comparison, and average nucleotide identity calculation consistently indicated that the species has diverged into three well-differentiated clades. Population structure analysis revealed four admixed ancestral subpopulations, with three of them corresponding to the three clades, respectively, and the fourth corresponding to an unknown ancestor or the fourth, yet unsampled, clade. Reconstruction of gene gain/loss events along the evolutionary history revealed both early events that contributed to the inter-clade divergence and recent events leading to the intra-clade diversity. We also found convincing evidence that recombination has played a key role of the evolutionary process of the species, with upto two-thirds of the core genes have been affected by recombination. Furthermore, distribution of mammal-associated strains (including pathogens) on the phylogenetic tree strongly suggested that the last common ancestor had a free-living lifestyle, and a few recently diverged lineages have developed a mammal-associated lifestyle separately. Consistently, genome-wide association studies revealed that mammal-associated strains from different lineages shared genes functionally relevant to the host-associated lifestyle, indicating a recent ecological adaption to the new host-associated habitats.Conclusions: These results revealed high intraspecies genomic diversity of M. luteus and highlighted that gene gain/loss events and extensive recombination events played key roles in the genome evolution. Our study also indicated that, as a free-living species, some lineages have recently developed or are developing a mammal-associated lifestyle. This study provides insights into the mechanisms that drive the genome evolution and adaption to various environments of a bacterial species.
Clinical Observations of Anterior Cruciate Ligament (ACL) Lesions in Patients with Chronic Fatigue
Authors: Yu Wang , Xianmin Liu , Chunbao Li , Liangbi Xiang 
Published: September 2020

Abstract
Purpose To explore how chronic fatigue impacts on anterior cruciate ligament (ACL) lesion and observe related clinical characteristics.Methods A retrospective study conducted from December 2015 to December 2019, includes 86 males who involved chronic fatigue （determined by the fatigue self-assessment scale ）and present symptoms of knee pain with no trauma. For those who diagnosed with ACL lesion, we recorded their basic characteristics such as age, BMI（kg/m2）, daily training time, etc. and carried out some tests on them to evaluate their clinical performance and observed their manifestations under X-ray, MRI and arthroscopy around the treatment procedure.Results Of all 86 males with ACL lesion, 59 patients were injured in the left knee while 27 in the right knee. Age, weekly training intensity, BMI, and knee hyperextension are independent influence factors for ACL lesion through multivariate analysis. Physical examinations and radiologic features included resting pain(23[26.7%]); standing pain(56[65.1%]); exercising pain(86[100%]); “powerless knee”(34[39.5%]); anterior patellar pain(41[47.7%]); knee axis tenderness(38[44.2%]); first degree positive in ADT test(34[39.5%]); second to third degree positive in ADT test(23[26.7%]); positive in Lachman test(73[84.9%]); positive in pivot shift test(5[5.8%]); ACL cyst(15[17.4%]); ACL thickness change(75[87.2%]); PCL tortuosity(35[40.7%]); synovitis(80[93.0%]); intra-articular effusion(79[91.9%]).Conclusion The main risk factor of ACL lesion is patients’ training experience time. Knee pain, mild anterior instability of knee joint, synovitis and intra-articular effusion are the most typical clinical manifestations of ACL patients.
Comparative efficacy and safety of β-lactam/β-lactamase inhibitors versus cabapenems for febrile neutropenia empiric therapy: A systematic review and meta analysis
Authors: Meng Haiyang , ZHANG Jingyi , ZHANG Ailing , YANG Jie , LU Jingli , Ma Yanfang , ZHOU Qi , KANG Jian , ZHANG Xiaojian 
Published: September 2020

Abstract
Background

The efficacy and safety of β-lactam/β-lactamase inhibitors (BL/BLIs) versus carbapenems for febrile neutropenia empiric therapy are controversial.
Methods

PubMed, Embase, Cochrane library databases, Web of Science and Google scholar were searched up to 1 April 2020. Studies were included if they compared BL/BLIs versus carbapenem for febrile neutropenia patients undergoing chemotherapy for either solid tumours or haematological malignancies among adults and children. We pooled the treatment success rate, mortality and adverse events.
Results

Nine RCTs were included. There was no differences between carbapenems and BL/BLIs were observed in terms of treatment success without modification (RR 1.04, 95% CI 0.93–1.15), no differences were observed in the subgroups of BL/BLIs, adults and children. No significant differences were found in all-cause mortality (RR 1.15, 95% CI 0.64–2.06). Our study shows that gastrointestinal events are the most common adverse effects, nausea/vomiting were significantly more common with carbapenems (RR 2.83, 95% CI 1.35–5.92, P = 0.006), however, diarrhea were more common with BL/BLIs (RR 0.47, 95% CI 0.27–0.80, P = 0.006).
Conclusions

The efficacy and safety of BL/BLIs with carbapenems were comparable in empiric treatment of febrile neutropenia.
Pattern of Hemoglobinopathies: A Cross-sectional Study in North of Morocco
Authors: Alaoui Fatima Zahra , LAGHMICH Achraf , NOUROUTI Naima GHAILANI , BARAKAT Amina , MECHITA Mohcine BENNANI 
Published: September 2020

Abstract
Background: Hemoglobinopathies are the most frequent widely spread genetic disorders. In Morocco, epidemiological and clinical data are scarce. The present study aims to determine the spectrum and geographic distribution of hemoglobinopathies in Larache province, North of Morocco.Methods: A retrospective cross-sectional study was conducted from January 2015 to December 2018 at the provincial hospital of Larache city. All patients’ records having a hemoglobinopathy were analyzed. Background data (age, gender, and origin) of each case were analyzed. Results: Our study showed an overall frequency of hemoglobinopathies of 3.6%. Sickle cell trait was registered to be the most common disorder in our studied population (42.3%), followed by β-thalassemia Trait (20.2%), sickle cell disease (19.8%), major β-thalassemia (9.8%) and sickle/β-thalassemia (8%). The average age of subjects with hemoglobin disorders was 17.5 years. The majority of the patients (66.5%) were less than 20 years old. A disparity in the diseases geographic distribution was observed, 74.6% of patients came from rural areas. Conclusions: The present study is the first of its kind offering comprehensive data on hemoglobinopathies pattern in Northern Morocco. Our work may lay the foundation for screening programs for better prevention and coverage.
FZD2 Promotes TGF-β-induced Epithelial-to-Mesenchymal Transition in Breast Cancer via Activating Notch Signaling Pathway
Authors: Tuluhong Dilihumaer , Chen Tao , Wang Jingjie , Zeng Huijuan , Li Hanjun , Dunzhu Wangmu , Li Qiurong , Wang Shaohua 
Published: September 2020

Abstract
Background

Breast cancer (BC) is one of the commonest female cancers, which is characterized with high incidence. Although treatments have been improved, the prognosis of BC patients in advanced stages remains unsatisfactory. Thus, exploration of the molecular mechanisms underneath BC progression is necessary to find novel therapeutic methods. Frizzled class receptor (FZD2) belongs to Frizzled family, which has been proven to promote cell growth and invasion in various human cancers. The purpose of our study was to detect the functions of FZD2 and explore its mechanism in BC.

Methods

The level of FZD2 was measured in BC tissues by quantitative realtime polymerase chain reaction (qRT-PCR), western blot, immunohistochemistry (IHC) respectively. Cell Counting Kit-8 (CCK-8), standard colony formation, transwell aasays, wound healing and flow cytometry experiments were adopted separately to test cell viability, invasion, migration, apoptosis and cell cycle distribution. Epithelial-mesenchymal transition (EMT) biomarker were determined by using Immunofluorescence assay. Xenograft tumorigenicity assay was performed to assess the effect of FZD2 on tumor growth in vivo .

Results

We determined that FZD2 mRNA and protein expression was abundant in BC tissues. Moreover, high level of FZD2 had significant correlation with poor prognosis. In vitro functional assays revealed that silencing of FZD2 had suppressive effects on BC cell growth, migration and invasion. Animal study further demonstrated that FZD2 silencing inhibited BC cell growth in vivo. In addition, FZD2 induced EMT in BC cells in a transforming growth factor (TGF)-β1-dependent manner. Mechanistically, knockdown of FZD2 led to the inactivation of Notch signaling pathway.

Conclusion

Based on all these data, we concluded that FZD2 facilitates BC progression and promotes TGF-β1-inudced EMT process through activating Notch signaling pathway.
Factors Contributing to Men’s Grief Following Pregnancy Loss and Neonatal Death: Further Development of an Emerging Model in an Australian Sample
Authors: Obst Kate , Oxlad Melissa , Due Clemence , Middleton Philippa 
Published: September 2020

Abstract
Background: Historically, men’s experiences of grief following pregnancy loss and neonatal death have been under-explored in comparison to women. However, investigating men’s perspectives is important, given potential gendered differences concerning grief styles, help-seeking and service access. Few studies have comprehensively examined the various individual, interpersonal, community and system/policy-level factors which may contribute to the intensity of grief in bereaved parents, particularly for men. Methods: Men (N = 228) who had experienced an ectopic pregnancy, miscarriage, stillbirth, termination of pregnancy for foetal anomaly, or neonatal death within the last 20 years responded to an online survey exploring their experiences of grief. Multiple linear regression analyses were used to examine the factors associated with men’s grief intensity and style. Results: Men experienced significant grief across all loss types, with the average score sitting above the minimum cut-off considered to be a high degree of grief. Eight factors significantly contributed to men’s grief: type of loss experienced, their age at the time of loss, loss history, marital satisfaction, availability of social support, acknowledgement of their grief from family/friends, time spent bonding with the baby during pregnancy, and feeling as though their role of ‘supporter’ conflicted with their grief process. Factors contributing to grief also differed depending on grief style. Intuitive (emotion-focused) grief was associated with viewing an ultrasound during pregnancy, ethnicity, and support received from healthcare professionals. Instrumental (activity-focused) grief was associated with time and quality of attachment to the baby during pregnancy, availability of social support, acknowledgement of men’s grief from their female partner, supporter role interfering with their grief, and tendencies toward self-reliance.Conclusions: Following pregnancy loss and neonatal death, men can experience high levels of grief, requiring acknowledgement and validation from all healthcare professionals, family/friends, community networks and workplaces. Addressing male-specific needs, such as balancing a desire to both support and be supported, requires tailored information and support. Strategies to support men should consider grief styles and draw upon father-inclusive practice recommendations. Further research is required to explore the underlying causal mechanisms of associations found.Trial registration: N/A
Can Social Capital Play a Role in Contracting Services of Family Doctors in China? Reflections Based on an Integrative Review.
Authors: Xu Xinglong , Antwi Henry Asante , Zhou Lulin , Mustafa Tehzeeb , Boafo-Arthur Ama 
Published: September 2020

Abstract
Background: The family doctors’ contract service problem is not about government management alone, but an interaction of a complex social environment. Consequently, the effect of contracted services of family doctors not only depends on policy incentives but also needs to win the participation, acknowledgement, and confidence of community residents. The purpose of this integrative review is to examine whether there is any significant evidence that social capital in the form of social networking groups and other forms of social groups have any positive impact on the acceptance and the effectiveness of family doctors' contractual services.Method: Research on qualitative, quantitative and hybrid methods published in peer-reviewed journals on the social capital role in the process of contract service of family doctors were eligible for inclusion. In view of the increasing attention paid to the contract service effect of family doctors during this period, a 10-year time scale was selected to ensure full coverage of relevant literature in the same period. In total, 809 articles were determined in the database retrieval results which were downloaded and transferred to the Mendeley reference application software.Results: Twelve articles met the inclusion criteria for this integrative review and the quality of the included studies were assessed using the published criteria for the critical appraisal of quantitative and qualitative research methods. Majority of the articles assessed reported that there was evidence of a positive link between social support, especially a sense of belonging and the presence of regular family doctors. The influencing factors of patients' contract behavior of studies conducted in China were social interaction of social capital, acceptance of the first contact in the community, year of investigation, and exposure to the public. Conclusion: The family doctor system should take the community as the carrier, integrate various social resources, improve the doctor-patient relationship, cultivate social network groups in the community, and accelerate the development of community construction, social capital (social network groups) can guide residents to use family doctor services to maintain health. Social capital can also help residents have a regular and reliable family doctor.