bluuebunny/crossref_metadata_2025_split huggingface dataset:
Assessing patient safety in a pediatric telemedicine setting: a multi-methods study
Authors: Haimi Motti , Brammli-Greenberg Shuli , Baron-Epel Orna , Waisman Yehezkel 
Published: April 2020

Abstract
Background
Telemedicine and telephone-triage may compromise patient safety, particularly if urgency is underestimated. We aimed to explore the level of safety of a pediatric telemedicine service, with particular reference to the appropriateness of the medical diagnoses made by the online physicians and the reasonableness of their decisions.

Methods
This retrospective multi-method study investigated the decision-making process of physicians in a pediatric tele-triage service provided in Israel. The first section of the study investigates several measures relating to patient safety in the telemedicine setting. Two physicians reviewed a random sample of 339 parent-physician consultations conducted via a pediatric telemedicine service provided by a healthcare organization during 2014–2017. The consultations were analyzed for factors that may have affected the online physicians’ decisions, with an emphasis on the appropriateness of the diagnoses and the reasonableness of the decisions. The online physicians’ decisions were also compared to the subsequent outcomes (i.e., parental compliance with the recommendations and medical follow-ups within the healthcare system) after each consultation.
The second section of the study (using a qualitative approach) consisted of interviews with 15 physicians who work in the pediatric telemedicine service, in order to explore their subjective experiences and efforts for assuring patient safety. The physicians were asked about factors that may have affected their reaching an appropriate diagnosis and a reasonable decision while maintaining patient safety.

Results
The first section of the study demonstrates high levels of diagnosis appropriateness (98.5%) and decision reasonableness (92%), as well as low levels of false-positive (2.65%) and false-negative (5.3%), good sensitivity (82.85%), and high specificity (96.15%). A high association between the online decisions and the subsequent outcomes was also observed. The second section of the study presents physicians’ means for ensuring high patient safety – by implementing a range of factors that helped them reach appropriate diagnoses and reasonable decisions.

Conclusions
The results show overall high patient safety in the pediatric tele-triage service that was examined. However, decision makers must strive to implement additional means for further enhancing the clinicians’ ability to reach accurate diagnoses and provide optimal treatments within the tele-triage settings – with the aim of ensuring patient safety.
Technical requirements framework of hospital information systems: design and evaluation
Authors: Farzandipour Mehrdad , Meidani Zahra , Nabovati Ehsan , Sadeqi Jabali Monireh , Dehghan Banadaki Razieh 
Published: April 2020

Abstract
Background
Implementing the health information system (HIS) is more complex and costly than implementing other information systems. The present study was conducted to design and evaluate technical requirements for the HIS.

Methods
The present study was conducted in 2016 by determining technical requirements for the HIS using the Delphi technique and then evaluating this system using a checklist based on the approved requirements.

Results
The first part of the study designed a 73-item final list of technical requirements for the HIS in four domains, i.e. communication service, system architecture, security service and system response time. The evaluation results obtained in the second part showed that communication service was met in 63.8% of the HIS programs, system architecture in 65.5%, security service in 72.4% and system response time in 76.3%.

Conclusions
A technical evaluation tool was designed and used to select and evaluate the HIS. The evaluation results suggested the study HIS was poorer in terms of communication service and system architecture than in the other two dimensions.
Impact of weight trajectory after bariatric surgery on co-morbidity evolution and burden
Authors: Davis Jason A. , Saunders Rhodri 
Published: April 2020

Abstract
Background
Bariatric surgery, such as Roux-en-Y gastric bypass [RYGB] has been shown to be an effective intervention for weight management in select patients. After surgery, different patients respond differently even to the same surgery and have differing weight-change trajectories. The present analysis explores how improving a patient’s post-surgical weight change could impact co-morbidity prevalence, treatment and associated costs in the Canadian setting.

Methods
Published data were used to derive statistical models to predict weight loss and co-morbidity evolution after RYGB. Burden in the form of patient-years of co-morbidity treatment and associated costs was estimated for a 100-patient cohort on one of 6 weight trajectories, and for real-world simulations of mixed patient cohorts where patients experience multiple weight loss outcomes over a 10-year time horizon after RYGB surgery. Costs (2018 Canadian dollars) were considered from the Canadian public payer perspective for diabetes, hypertension and dyslipidaemia. Robustness of results was assessed using probabilistic sensitivity analyses using the R language.

Results
Models fitted to patient data for total weight loss and co-morbidity evolution (resolution and new onset) demonstrated good fitting. Improvement of 100 patients from the worst to the best weight loss trajectory was associated with a 50% reduction in 10-year co-morbidity treatment costs, decreasing to a 27% reduction for an intermediate improvement. Results applied to mixed trajectory cohorts revealed that broad improvements by one trajectory group for all patients were associated with 602, 1710 and 966 patient-years of treatment of type 2 diabetes, hypertension and dyslipidaemia respectively in Ontario, the province of highest RYGB volume, corresponding to a cost difference of $3.9 million.

Conclusions
Post-surgical weight trajectory, even for patients receiving the same surgery, can have a considerable impact on subsequent co-morbidity burden. Given the potential for alleviated burden associated with improving patient trajectory after RYGB, health care systems may wish to consider investments based on local needs and available resources to ensure that more patients achieve a good long-term weight trajectory.
Dense module searching for gene networks associated with multiple sclerosis
Authors: Manuel Astrid M. , Dai Yulin , Freeman Leorah A. , Jia Peilin , Zhao Zhongming 
Published: April 2020

AbstractBackgroundMultiple sclerosis (MS) is a complex disease in which the immune system attacks the central nervous system. The molecular mechanisms contributing to the etiology of MS remain poorly understood. Genome-wide association studies (GWAS) of MS have identified a small number of genetic loci significant at the genome level, but they are mainly non-coding variants. Network-assisted analysis may help better interpret the functional roles of the variants with association signals and potential translational medicine application. The Dense Module Searching of GWAS tool (dmGWAS version 2.4) developed in our team is applied to 2 MS GWAS datasets (GeneMSA and IMSGC GWAS) using the human protein interactome as the reference network. A dual evaluation strategy is used to generate results with reproducibility.ResultsApproximately 7500 significant network modules were identified for each independent GWAS dataset, and 20 significant modules were identified from the dual evaluation. The top modules includedGRB2, HDAC1,JAK2,MAPK1,andSTAT3as central genes. Top module genes were enriched with functional terms such as “regulation of glial cell differentiation” (adjustedp-value = 2.58 × 10− 3), “T-cell costimulation” (adjustedp-value = 2.11 × 10− 6) and “virus receptor activity” (adjustedp-value = 1.67 × 10− 3). Interestingly, top gene networks included several MS FDA approved drug target genesHDAC1,IL2RA,KEAP1, andRELA,ConclusionsOur dmGWAS network analyses highlighted several genes (GRB2, HDAC1, IL2RA, JAK2, KEAP1, MAPK1, RELAandSTAT3) in top modules that are promising to interpret GWAS signals and link to MS drug targets. The genes enriched with glial cell differentiation are important for understanding neurodegenerative processes in MS and for remyelination therapy investigation. Importantly, our identified genetic signals enriched in T cell costimulation and viral receptor activity supported the viral infection onset hypothesis for MS.
An integrative, genomic, transcriptomic and network-assisted study to identify genes associated with human cleft lip with or without cleft palate
Authors: Yan Fangfang , Dai Yulin , Iwata Junichi , Zhao Zhongming , Jia Peilin 
Published: April 2020

Abstract
Background
Cleft lip with or without cleft palate (CL/P) is one of the most common congenital human birth defects. A combination of genetic and epidemiology studies has contributed to a better knowledge of CL/P-associated candidate genes and environmental risk factors. However, the etiology of CL/P remains not fully understood. In this study, to identify new CL/P-associated genes, we conducted an integrative analysis using our in-house network tools, dmGWAS [dense module search for Genome-Wide Association Studies (GWAS)] and EW_dmGWAS (Edge-Weighted dmGWAS), in a combination with GWAS data, the human protein-protein interaction (PPI) network, and differential gene expression profiles.

Results
A total of 87 genes were consistently detected in both European and Asian ancestries in dmGWAS. There were 31.0% (27/87) showed nominal significance with CL/P (gene-based p < 0.05), with three genes showing strong association signals, including KIAA1598, GPR183, and ZMYND11 (p < 1 × 10− 3). In EW_dmGWAS, we identified 253 and 245 module genes associated with CL/P for European ancestry and the Asian ancestry, respectively. Functional enrichment analysis demonstrated that these genes were involved in cell adhesion, protein localization to the plasma membrane, the regulation of the apoptotic signaling pathway, and other pathological conditions. A small proportion of genes (5.1% for European ancestry; 2.4% for Asian ancestry) had prior evidence in CL/P as annotated in CleftGeneDB database. Our analysis highlighted nine novel CL/P candidate genes (BRD1, CREBBP, CSK, DNM1L, LOR, PTPN18, SND1, TGS1, and VIM) and 17 previously reported genes in the top modules.

Conclusions
The genes identified through superimposing GWAS signals and differential gene expression profiles onto human PPI network, as well as their functional features, helped our understanding of the etiology of CL/P. Our multi-omics integrative analyses revealed nine novel candidate genes involved in CL/P.
The International Conference on Intelligent Biology and Medicine 2019 (ICIBM 2019): computational methods and applications in medical genomics
Authors: Zhang Chi , Mathé Ewy , Ning Xia , Zhao Zhongming , Wang Kai , Li Lang , Guo Yan 
Published: April 2020

AbstractIn this editorial, we briefly summarized the International Conference on Intelligent Biology and Medicine 2019 (ICIBM 2019) that was held on June 9–11, 2019 at Columbus, Ohio, USA. We further introduced the 19 research articles included in this supplement issue, covering four major areas, namely computational method development, genomics analysis, network-based analysis and biomarker prediction. The selected papers perform cutting edge computational research applied to a broad range of human diseases such as cancer, neural degenerative and chronic inflammatory disease. They also proposed solutions for fundamental medical genomics problems range from basic data processing and quality control to functional interpretation, biomarker and drug prediction, and database releasing.
Highly robust model of transcription regulator activity predicts breast cancer overall survival
Authors: Dong Chuanpeng , Liu Jiannan , Chen Steven X. , Dong Tianhan , Jiang Guanglong , Wang Yue , Wu Huanmei , Reiter Jill L. , Liu Yunlong 
Published: April 2020

Abstract
Background
While several multigene signatures are available for predicting breast cancer prognosis, particularly in early stage disease, effective molecular indicators are needed, especially for triple-negative carcinomas, to improve treatments and predict diagnostic outcomes. The objective of this study was to identify transcriptional regulatory networks to better understand mechanisms giving rise to breast cancer development and to incorporate this information into a model for predicting clinical outcomes.

Methods
Gene expression profiles from 1097 breast cancer patients were retrieved from The Cancer Genome Atlas (TCGA). Breast cancer-specific transcription regulatory information was identified by considering the binding site information from ENCODE and the top co-expressed targets in TCGA using a nonlinear approach. We then used this information to predict breast cancer patient survival outcome.

Result
We built a multiple regulator-based prediction model for breast cancer. This model was validated in more than 5000 breast cancer patients from the Gene Expression Omnibus (GEO) databases. We demonstrated our regulator model was significantly associated with clinical stage and that cell cycle and DNA replication related pathways were significantly enriched in high regulator risk patients.

Conclusion
Our findings demonstrate that transcriptional regulator activities can predict patient survival. This finding provides additional biological insights into the mechanisms of breast cancer progression.
Differential co-expression analysis reveals early stage transcriptomic decoupling in alzheimer’s disease
Authors: Upadhyaya Yurika , Xie Linhui , Salama Paul , Cao Sha , Nho Kwangsik , Saykin Andrew J. , Yan Jingwen , Alzheimer’s Disease Neuroimaging In for the 
Published: April 2020

AbstractBackgroundAlzheimer’s disease (AD) is one of the leading causes of death in the US and there is no validated drugs to stop, slow or prevent AD. Despite tremendous effort on biomarker discovery, existing findings are mostly individual biomarkers and provide limited insights into the transcriptomic decoupling underlying AD. We propose to explore the gene co-expression patterns in multiple AD stages, including cognitively normal (CN), early mild cognitive impairment (EMCI), late MCI and AD.MethodsWe modified traiditonal joint graphical lasso to model our asusmption that the co-expression networks in consecutive disease stages are largely similar with critical differences. In addition, we performed subsequent network comparison analysis for identification of stage specific transcriptomic decoupling. We focused our analysis on top AD-enriched pathways.ResultsWe observed that 419 edges in CN, 420 edges in EMCI, 381 edges in LMCI and 250 edges in AD were frequently estimated with non zero weights. With modified JGL, the weight of all estimated edges in CN, EMCI and LMCI are zero. In AD group, 299 edges were occasionally estimated to be nonzero and the average correlation between genes was 0.0023. For co-expression change during AD progression, there are 66 pairs of genes that demonstrated a continuously decreasing or increasing co-expression from CN to EMCI, LMCI and AD.The network level clustering coefficient remains stable from CN to LMCI and then decreases significantly when progressing to AD. When evaluating edge level differences, we identified eight gene modules with continuously decreasing or increasing co-expression patterns during AD progression. Five of them shows significant changes from CN to EMCI and thus have the potential to serve system biomarkers for early screening of AD.ConclusionWe employed a modified joint graphical lasso for estimation of co-expression networks for multiple stages of AD. Comparing with graphical lasso, our modified joint graphical lasso model accounts for the similarity in consecutive disease stages. Our results on real data set revealed five gene clusters with obvious co-expression pattern change from CN to EMCI, which could be used as potential system-level biomarkers for early screening of AD.
Can the reform of integrating health insurance reduce inequity in catastrophic health expenditure? Evidence from China
Authors: Wang Jiahui , Zhu Hong , Liu Huan , Wu Ke , Zhang Xin , Zhao Miaomiao , Yin Hang , Qi Xinye , Hao Yanhua , Li Ye , Liang Libo , Jiao Mingli , Xu Jiao , Liu Baohua , Wu Qunhong , Shan Linghan 
Published: April 2020

Abstract
Background
China’s fragmentation of social health insurance schemes has become a key obstacle that hampers equal access to health care and financial protection. This study aims to explores if the policy intervention Urban and Rural Residents Basic Medical Insurance (URRBMI) scheme, which integrates Urban Resident Basic Medical Insurance (URBMI) and New Rural Cooperative Medical Scheme (NCMS), can curb the persistent inequity of catastrophic health expenditure (CHE) and further analyses the determinants causing inequity.

Methods
Data were derived from the Fifth National Health Service Survey (NHSS). A total of 11,104 households covered by URRBMI and 20,590 households covered by URBMI or NCMS were selected to analyze CHE and the impoverishment rate from medical expenses. Moreover, the decomposition method based on a probit model was employed to analyse factors contributing CHE inequity.

Results
The overall incidence of CHE under integrated insurance scheme was 15.53%, about 1.10% higher than the non-integrated scheme; however, the intensity of CHE and impoverishment among the poorest was improved. Although CHE was still concentrated among the poor under URRBMI (CI = -0.53), it showed 28.38% lower in the degree of inequity. For URRBMI households, due to the promotion of integration reform to the utilization of rural residents’ better health services, the factor of residence (24.41%) turns out to be a major factor in increasing inequity, the factor of households with hospitalized members (− 84.53%) played a positive role in reducing inequity and factors related to social economic status also contributed significantly in increasing inequity.

Conclusion
The progress made in the integrated URRBMI on CHE equity deserves recognition, even though it did not reduce the overall CHE or the impoverishment rate effectively. Therefore, for enhanced equity, more targeted solutions should be considered, such as promoting more precise insurance intervention for the most vulnerable population and including costly diseases suitable for outpatient treatment into benefit packages. Additionally, comprehensive strategies such as favourable targeted benefit packages or job creation are required for the disadvantaged.
Spectrum of paediatric rheumatic disorders at a tertiary hospital in Tanzania
Authors: Furia Francis F. , Godfrey Evance , Mwamanenge Naomi , Swai Peter 
Published: April 2020

Abstract
Background
Paediatric rheumatic disorders are common in children and result in significant impairment in quality of life, morbidity and mortality. There is limited information on the burden of these disorders in lower income countries especially in sub-Saharan Africa. Few case reports have documented presence of paediatric rheumatic disorders in Tanzania. This study was conducted to determine the spectrum of rheumatic disorders among children at Muhimbili National Hospital (MNH).

Methods
This was a retrospective study conducted among children who were attended at MNH between January 2012 and August 2019. Paediatric patients seen in the out-patient clinics and those admitted in the wards were eligible. All patients with diagnosis of rheumatic disorders were identified from admission books and outpatient clinic logbooks, and later data were collected from their case notes and were recorded in clinical research forms. Collected information included age, sex, clinical features and laboratory tests results.

Results
A total of 52 children with mean age of 9.5 ± 4.3 years, 12 (40.4%) participants were aged above 10 years and 32 (61.5%) were females. Frequently reported clinical presentations were joint pain 44 (84.6%), joint swelling 34 (65.4%), fever 24 (46.2%) and skin rashes 21(40.4%). Juvenile idiopathic arthritis (JIA) was the predominant diagnosis reported in 28 (53.8%) participants followed by juvenile systemic lupus erythematosus 8 (15.4%), mixed connective tissue diseases 4 (7.7%) and juvenile dermatomyositis 4 (7.7%). Antinuclear antibody test was performed in 16 participants it was positive in 9 (56.2%). Nine participants were tested for anti-double stranded DNA test and 5 (55.6%) were positive for this test. C-reactive protein was tested in 46 participants out of which 32 (69.6%) had elevated levels. HIV was tested in 24 (46.2%) participants and results were negative. Thirty-five out of 52 (67.3%) participants had anaemia. Predominant drugs used for treatment of JIA include prednisolone and methotrexate.

Conclusions
Paediatric rheumatic disorders are not uncommon in Tanzania-and were noted to affect more female children in this study. Predominant conditions included juvenile idiopathic arthritis (JIA), juvenile systemic lupus erythematosus (JSLE) and juvenile dermatomyositis (JDM).
Participatory model building for suicide prevention in Canada
Authors: Thompson Laura H. , Lang Justin J. , Olibris Brieanne , Gauthier-Beaupré Amélie , Cook Heather , Gillies Dakota , Orpana Heather 
Published: April 2020

Abstract
Background
Suicide is a behaviour that results from a complex interplay of factors, including biological, psychological, social, cultural, and environmental factors, among others. A participatory model building workshop was conducted with fifteen employees working in suicide prevention at a federal public health organization to develop a conceptual model illustrating the interconnections between such factors. Through this process, knowledge emerged from participants and consensus building occurred, leading to the development of a conceptual model that is useful to organize and communicate the complex interrelationships between factors related to suicide.

Methods
A model building script was developed for the facilitators to lead the participants through a series of group and individual activities that were designed to elicit participants’ implicit models of risk and protective factors for suicide in Canada. Participants were divided into three groups and tasked with drawing the relationships between factors associated with suicide over a simplified suicide process model. Participants were also tasked with listing prevention levers that are in use in Canada and/or described in the scientific literature.

Results
Through the workshop, risk and prevention factors and prevention levers were listed and a conceptual model was drafted. Several “lessons learned” which could improve future workshops were generated through reflection on the process.

Conclusions
This workshop yielded a helpful conceptual model contextualising upstream factors that can be used to better understand suicide prevention efforts in Canada.