bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectrum in hereditary retinopathy genes through targeted sequencing technology
Authors: Bai Zhouxian , Xie Yanchuan , Liu Lina , Shao Jingzhi , Liu Yuying , Kong Xiangdong 
Published: December 2020

Abstract
Background: Hereditary retinopathy is a significant cause of blindness worldwide. Despite the discovery of many mutations in various retinopathies, a large part of patients remain undiagnosed genetically. Targeted next generation sequencing of the human genome is a suitable approach for retinopathy molecular diagnosis.Methods: We described a cohort of 211 families from central China with various forms of retinopathy, 95 families of which were investigated using NGS multi-gene panel sequencing as well as the other 116 patients were LHON suspected tested by Sanger sequencing. We validated the candidate variants by PCR-based Sanger sequencing. We have made comprehensive analysis of the cases through sequencing data and ophthalmologic examination information.Results: The potentially causal mutation was identified in majority of the families with retinopathy (57.9% of 95 families) and Leber hereditary optic neuropathy (LHON) (21.6% of 116 families). The identified mutations (68mutations, 37 of which are novel) of the 95 families spanned 31 known disease genes, about half have not been reported relation to hereditary retinopathy. The NGS panel solution provides 45.3% potential diagnostic rate of the retinopathy families and another 12.6% families detect candidate gene mutations with undefined pathogenicity in this study.Conclusion: Our study showed novel mutations and phenotypic aspects of retinopathy, and demonstrated genetic and clinical heterogeneity of the conditions. Our results illustrated the significance of molecular genetic testing for patients with hereditary retinopathy.
Utilising Benefit-Risk Assessments within Clinical Trials – A Protocol for the BRAINS project
Authors: Totton Nikki , Julious Steven , Hughes Dyfrig , Cook Jonathan , Biggs Katie , Coates Lizzie , Cook Andrew , Hewitt Catherine , Day Simon 
Published: December 2020

Abstract
Background: Depending on the treatment to be investigated, a clinical trial could be designed to assess objectives of: superiority; equivalence or non-inferiority. The design of the study is affected by many different elements including: the control treatment, the primary outcome and associated relationships. In some studies, there could be more than one outcome of interest. In these situations, benefit-risk methodologies could be used to assess the outcomes simultaneously and consider the trade-off between the benefits against the risks of a treatment. Benefit-risk is used within the regulatory industry but seldom included within publicly funded clinical trials within the UK. This project aims to gain an expert consensus on how to select the appropriate trial design (e.g. superiority) and when to consider including benefit-risk methods.Methods: The project will consist of four work packages:1. A web-based survey to elicit current experiences and opinions,2. A rapid literature review to assess any current recommendations,3. A two-day consensus workshop to gain agreement on the recommendations,4. Production of a guidance document.Discussion: The aim of the project is to provide a guideline for clinical researchers, grant funding bodies and reviewers for grant bodies for how to select the most appropriate trial design and when it is appropriate to consider using benefit-risk methods. The focus of the guideline will be on publicly funded trials, however, the vision is that the work will be applicable across research settings and we will connect with other organisations and committees as appropriate.
“Having more women humanitarian leaders will help transform the humanitarian system”: Challenges and Opportunities for Women Leaders in Conflict and Humanitarian Health
Authors: Patel Preeti , Meagher Kristen , Achi Nassim El , Ekzayez Abdulkarim , Sullivan Richard , Bowsher Gemma 
Published: December 2020

Abstract
Background: It is estimated that over 40 percent of the half a million humanitarian workers who provide frontline care during emergencies, wars and disasters, are women. Women are at the forefront of improving health for conflict-affected populations through service delivery, education and capacity strengthening, advocacy and research. Women are also disproportionately affected by conflict and humanitarian emergencies. The growing evidence base demonstrating excess female morbidity and mortality reflects the necessity of evaluating the role of women in leadership driving health research, policy and programmatic interventions in conflict-related humanitarian contexts. Despite global commitments to improving gender equality, the issue of women leaders in conflict and humanitarian health has been given little or no attention. The aim of this paper focuses on three domains: importance, barriers and opportunities for women leaders in conflict and humanitarian health. Following thematic analysis of the material collected, we discuss the following themes: barriers of women’s leadership domain at societal level, and organisational level, which is subcategorized into culture and strategy. Building on the available opportunities and initiatives and on inspirational experiences of the limited number of women leaders in this field, recommendations for empowering and supporting women’s leadership in conflict health are presented. Methods: A desk-based literature review of academic and grey sources was conducted followed by thematic analysis.Results: There is very limited evidence on women leaders in conflict and humanitarian health. Some data shows that women have leadership skills that help to support more inclusive solutions which are incredibly important in this sector. However, deeply imbedded discrimination against women at the organisational, cultural, social, financial and political levels is exacerbated in conflict which makes it more challenging for women to progress in such settings.Conclusion: Advocating for women leaders in conflict and health in the humanitarian sector, governmental bodies, academia and the global health community is crucial to increasing effective interventions that adequately address the complexity and diversity of humanitarian crises.
Improvement of Parent’s Awareness, Knowledge, Perception, and Acceptability of HPV Vaccination After a Structured-educational Intervention
Authors: Sitaresmi Mei Neni , Rozanti Nisrina Maulida , Simangunsong Lamria Besty , Wahab Abdul 
Published: December 2020

Abstract
Background: Regardless of the disease burden of human papillomavirus (HPV), the vaccine has not been included in the Indonesia National Immunization Program. Since 2017 there was a demonstration program of the HPV vaccination in Yogyakarta Province. This vaccine was given free to female primary school students in the 5 th and 6 th grades (11-13 years old). This study aimed to assess whether a structured-educational intervention focus on HPV increases the parental awareness, knowledge, and perceptions toward HPV and the vaccine acceptability. Methods: We conducted a pre-post structured-educational intervention study from July to August 2017 before the implementation of the HPV vaccination demonstration program, in Kulon Progo District, Yogyakarta Province, Indonesia. Parents of female primary school students grades 5 th and 6 th were selected using a school-based proportional random sampling. A pediatric resident provided a structured-educational intervention, which consists of the burden and risk of HPV disease, as well as the benefit and safety of the vaccine. Parents were required to complete validated self-administered questionnaires before and after the structured-educational intervention. Results: A total of 506 parents participated. Before receiving the structured-educational intervention, parents' awareness of HPV infection and the vaccines were low. Only 49.2% of parents had heard HPV infection, and 48.8% had heard about the vaccine. After the structured-educational intervention, there were significant improvements in parent’s awareness, knowledge, and perceptions of HPV infection, cervical cancer, and HPV vaccination (all p <0.001). HPV vaccine's acceptability increased from 74.3% to 87.4% ( p <0.001). There was a significant correlation between increasing HPV vaccine acceptability with the improvement of awareness, knowledge, and perception toward HPV infection, cervical cancer and HPV vaccination (r=0.32 to 0.53, p <0.001). After the structured-educational intervention, better knowledge and positive perceptions of HPV vaccination were predictive of HPV vaccine's acceptability with OR 1.90 (95%CI:1.40-2.57) and OR 1.31(95%CI:1.05-1.63), respectively. Conclusions: A structured-educational intervention may improve parental awareness, knowledge, and perceptions toward HPV and the acceptability of the vaccine. Further study, a randomized control trial with longer follow-up are needed to evaluate the long-term and actual effectiveness of improving parents’ knowledge, perceptions and HPV vaccine acceptability .
Survey on neutralizing antibodies against Zika virus eighteen months post-outbreak in two southern Thailand communities
Authors: Densathaporn Theerut , Sangthong Rassamee , Sakolnapa Monvaris , Surasombatpattana Smonrapat , Kemapunmanus Marisa , Masrinoul Promsin , Yoksan Sutee , McNeil Edward B , Chongsuvivatwong Virasakdi 
Published: December 2020

Abstract
Background: In 2016 and 2017, Zika virus (ZIKV) infection outbreaks occurred in two communities in southern Thailand. This re-immerging infection can widely spread by mosquito bites and cause serious complications in a central nervous system among children born to infected mothers. Thus, they should be protected. This study aims to (1) To determine the prevalence of neutralizing ZIKV antibodies in the post-outbreak areas among the general population and pregnancy women residing at various distances from the houses of the nearest index patients; (2) To examine the cross-neutralizing capacity of antibodies against ZIKV on other flaviviruses commonly found in the study areas; (3) To identify factors associated with the presence of neutralizing ZIKV antibodies.Methods: The two post-outbreak communities were visited at 18 months after the outbreaks. We enrolled (1) 18 confirmed ZIKV infected (index) cases, (2) sample of 554 neighbors in the outbreak areas who lived at various distances from the index patients’ houses, (3) 190 residents of non-outbreak areas, and (4) all pregnant women regardless of gestational age residing in the study areas (n = 805). All serum specimens underwent the plaque reduction neutralization test (PRNT). Ten randomly selected ZIKV seropositive and ten randomly selected seronegative specimens were tested for dengue virus serotypes 1-4 (DENV1-4) and Japanese encephalitis virus (JEV) antibodies using PRNT90. Serum titer above 1:10 was considered positive. Multiple logistic regression was used to assess factors associated with seropositivity.Results: Out of all 18 index cases, 9 remained seropositive. The seroprevalence (95% CI) in the two outbreak areas were 43.7% (35.9-51.6%) and 29.7% (23.3-36.0%) in general population, and 24.3% (20.1-28.8%) and 12.8% (9.7-16.5%) in pregnant women. Multivariate analysis showed that seropositivity was independent of the distance gradient from the index’s houses. However, being elderly was associated with seropositivity. DENV1-4 and JEV neutralizing antibodies were present in most ZIKV-positive and negative subsamples.Conclusion: Protective herd immunity for ZIKV infection is inadequate, especially among pregnant women in the two post-outbreak areas in southern Thailand.
Shifted Phase of EEG Cross-Frequency Coupling in Individuals with Phelan-McDermid Syndrome
Authors: Mariscal Michael G , Berry-Kravis Elizabeth , Buxbaum Joseph D , Ethridge Lauren E , Filip-Dhima Rajna , Foss-Feig Jennifer H , Kolevzon Alexander , Modi Meera E , Mosconi Matthew W , Nelson Charles A , Powell Craig M , Siper Paige M , Soorya Latha , Thaliath Andrew , Thurm Audrey , Zhang Bo , Sahin Mustafa , Levin April R 
Published: December 2020

Abstract
Background: Phelan-McDermid Syndrome (PMS) is a rare condition caused by deletion or mutation of the SHANK3 gene. Individuals with PMS frequently present with intellectual disability, autism spectrum disorder (ASD), and other neurodevelopmental challenges. Electroencephalography (EEG) can provide a window into network-level function in PMS. Methods: Here, we analyze EEG data collected across multiple sites in individuals with PMS (n = 26) and typically developing individuals (n = 15). We quantify oscillatory power, alpha-gamma phase-amplitude coupling strength, and phase bias, a measure of the phase of cross frequency coupling thought to reflect the balance of feedforward and feedback activity. Results: We find individuals with PMS display increased alpha-gamma phase bias ( U = 3.841, p < 0.0005), predominantly over posterior electrodes. Most individuals with PMS demonstrate positive overall phase bias while most typically developing individuals demonstrate negative overall phase bias. Among individuals with PMS, strength of alpha-gamma phase-amplitude coupling was associated with Sameness, Ritualistic, and Compulsive behaviors as measured by the Repetitive Behavior Scales-Revised (Beta= 0.545, p= 0.011). Conclusions: Increased phase bias suggests potential circuit-level mechanisms underlying phenotype in PMS, offering opportunities for back-translation of findings into animal models and targeting in clinical trials.
A hybrid metaheuristic for Solving Asymmetric Distance-Constrained Vehicle Routing Problem
Authors: Ban Bang Ha , Nguyen Phuong Khanh 
Published: December 2020

Abstract
The Asymmetric Distance-Constrained Vehicle Routing Problem (ADVRP) is an NP-hard problems. In ADVRP problem, each customer is visited once by one vehicle; every tour starts and ends at a depot; and the travelled distance by each vehicle is required to be less than or equal to the given maximum value. The problem is a natural extension of Vehicle Routing Problem case. In our work, we propose a hybrid metaheuristic algorithm combining the Randomized Variable Neighborhood Search (RVNS) and the Tabu Search (TS) to solve the problem. The combination of multiple neighborhoods and tabu mechanism is used for their capacity to escape local optima while exploring the solution space. Furthermore, the intensification and diversification phases are also included to deliver optimized and diversified solutions for the search. Extensive numerical experiments on benchmark instances show that our algorithm can be comparable with the state-of-the-art previous algorithms in terms of solution quality and computation time. In many cases our proposed method is able to improve the best-known solution available from the literature.
Cause analysis and enlightens of hand injury during the COVID-19 outbreak and work resumption period
Authors: Jin Qianjun , Zhou Haiying , Lu Hui 
Published: December 2020

Abstract
Background: In light of the new circumstances caused by the current COVID-19 pandemic, an enhanced knowledge of hand injury patterns may help with prevention in factories as well as the management of related medical conditions.Methods: A sample of 95 patients were admitted to an orthopedics department with an emergent hand injury within half a year of the COVID-19 outbreak. Data were collected between January 23rd, 2020 and July 23rd, 2020. Information was collected regarding demographics, type of injury, location, side of lesions, mechanism of injuries, place where the injuries occurred, surgical management, and outcomes. Results: The number of total emergency visits due to hand injury during the COVID-19 outbreak decreased 37% when compared to the same period in the previous year. At the same time, work resumption injuries increased 40%. In comparison to the corresponding period in the previous year, most injured patients during the COVID-19 outbreak were women (60%) with a mean age of 56.7, while during the work resumption stage, most were men (82.4%) with a mean age of 44.8. The majority of injuries within the resumption period occurred at work (64.7%), significantly more than in the same period in 2019 (37.3%) (P < 0.001). Machine injuries were the most frequent (58.8%). Data show that different degrees of cutting injuries comprised the majority of total cases (82.4%), far more than simple fractures and dislocations, with fingers the most commonly injured body part. The majority of injuries were classified as either minor or moderate (90%) during the outbreak while major (40%) during the resumption of work. The proportion of major injuries during the work resumption stage in this year (40%) have been almost double that of the previous year (pre-pandemic) (21.8%) (P = 0.006).Conclusion: The resumption of work following the COVID-19 outbreak is a time of high risk for hand injuries. The overall number of patients with hand injuries admitted into our department has decreased compared to the corresponding period last year. Workplace injuries, especially machine related ones, increased greatly during the six months after the outbreak of COVID-19. The proportion of major injuries increased by a large margin. Emergency and surgical service providers should be aware of this pattern of hand injuries during this atypical time in order to more effectively prepare and plan services.Level of evidence: Level IV.
Exploring the usability of the COM-B model and Theoretical Domains Framework (TDF) to define the helpers of and hindrances to evidence-based practice in midwifery.
Authors: De Leo Annemarie , BAYES Sara , BLOXSOME Dianne , BUTT Janice 
Published: December 2020

Abstract
Background Despite the advancement of scientific research in the field of maternity care, midwives face challenges translating latest evidence into evidence-based practice (EBP) and express reticence towards leading practice change in clinical areas. This study aimed to explore midwifery leaders’ views on what factors help or hinder midwives’ efforts to translate latest evidence into everyday practice and consider them in relation to both the Capability, Opportunity, Motivation and Behaviour (COM-B) model and Theoretical Domains Framework (TDF).Methods This qualitative study formed part of a larger Action Research (AR) project that was designed to improve midwives’ EBP implementation capability. Data were obtained from eight Western Australian midwifery leaders who were employed in either managerial or executive positions within their organisation. Five midwives attended a focus group workshop and three opted for face-to-face interviews. Thematic analysis was used to code the transcribed data and group alike findings into sub-categories, which were collapsed to four major categories and one overarching core finding. These were mapped to a matrix combining the COM-B and TDF to establish the usability of these tools in midwifery contexts. Results Four major categories were developed from the data collected in this study. Three reported the hindrances midwives’ experienced when trying to initiate new EBPs: “For midwives, medical opposition and workplace culture are the biggest challenges”, “Fear can stop change: it’s personal for midwives” and “Midwives are tired of fighting the battle for EBP; they need knowledge and the confidence to bring about practice change.” The other major category highlighted factors midwives’ considered helpers of EBP: “Having stakeholder buy-in and strong midwifery leadership is a huge advantage.” When mapped to the TDF and COM-B, these findings provided valuable insight into the helpers of and hindrances to evidence-based practice in midwifery. Conclusion Midwives are motivated to initiate evidence-based change yet have limited knowledge of implementation processes or the confidence to lead practice change. Factors such as inter-disciplinary buy-in, clear instruction for midwives and support from midwifery leaders were considered beneficial to implementing practice change in clinical areas. The TDF when used in combination with the COM-B was deemed useful to midwives wanting to lead practice change projects in clinical areas.
Dietary Intake, Intestinal Infection, and Safe Drinking Water Among Children with Anemia in Peru: A Cross-Sectional Analysis
Authors: Westgard Christopher M , Orrego-Ferreyros Luis A. , Calderón Liz Franco , Rogers Alexandra M. 
Published: December 2020

Abstract
Anemia is a major public health concern that is present in 41.7% of children under 5 worldwide. The prevalence of anemia in Peru was 43.6% in 2017, a decrease by only 6.8% in 8 years. Despite great efforts made by the government to reduce anemia by distributing free multi-micronutrient supplements and promote the consumption of iron rich foods, progress has been slow. The current study sought to better understand the dietary intake, incidence of intestinal infectious disease, and access to safe drinking water by children with anemia in Peru to help explain why the prevalence remains high. METHODS A cross-sectional analysis was conducted using data from two national surveys that were combined by child ID. Descriptive statistics was analyzed to understand the experience of children with anemia in comparison to child without anemia. Logistic multivariate regression analyses were conducted to test the associations between anemia and dietary intake, intestinal infection, and access to safe drinking water. RESULTS The sample included 586 children between 6 and 35 months. The prevalence of anemia in this population was 53%. The portion of children that consumed sufficient iron to meet the recommendation for their age was 61%. Of the children with anemia, 52% consumed sufficient iron to meet their recommendation, vs. 47% of children without anemia (p<0.001). The children with anemia were more likely to have an intestinal infection in the last year (35% vs. 26%, p=0.057) and less likely to have access to safe drinking water (23% vs. 14%, p=0.02) than those without anemia. The logistic analysis revealed that having an intestinal infection increased the odds of having anemia (OR=1.59, CI 95% [1.01-2.49]), and having access to safe drinking waters decreased the odds of having anemia (OR=0.56, [0.32-0.96]). CONCLUSIONS More than half of the children with anemia in Peru already consume sufficient iron to meet their daily requirement. However, they continue to have anemia, likely due to intestinal infection, such as diarrhea and parasites, and a lack of access to safe drinking water.