bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: A case report and expanding the phenotypic spectrum
Authors: Ajam-Hosseini Mobarakeh , Parvini Farshid , Angaji Abdolhamid 
Published: January 2023

Abstract
Background: SALL4, a member of the SALL genes family, encodes a zinc-finger transcriptional factor that either activates or represses gene transcription depending on cell type during embryonic development. SALL4 mutations cause extremely variable conditions including Duane-radial ray (DRR), Okihiro, Holt-oram, Acro-renal ocular (ARO) and IVIC syndromes, all with autosomal dominant inheritance pattern. However, all these syndromes with different terminologies are actually the same entity termed SALL4 related disorders.
Case presentation: Herein, we examine an Iranian patient suspected to DRR syndrome which has not been previously described in the population. Whole-exome sequencing (WES) was performed to examine pathogenic genes in the proband. Subsequently, Sanger sequencing was used to confirm the mutation found. To elucidate the effects of the identified mutation, clinical data of patient was collected. Morever, the possible impact of the mutation found on the corresponding protein was evaluated using bioinformatics tools. WES identifed a novel de novo heterozygous nonsense mutation in exon 2 of SALL4 gene (c.712C>T:p.Q238X). Subsequently, segregation and phenotype-genotype correlation analysis as well as in-silicoapproaches confirmed the autosomal dominance inheritance and disease-causing nature of the identified mutation. In addition, studied patient had features not described previously, including kyphoscoliosis, dimple presacral sinus, barrel chest and artric disc (C6-C7). These manifestations could be additional characteristics of the growing phenotypic spectrum of SALL4 related disorders.
Conclusion: Our findings could extend the pathogenic mutations and phenotypic spectrum of SALL4 related disorders. Such reports can also aid to conduct genetic counseling, prenatal diagnosis and clinical management for individuals at high risk of SALL4 related disorders.
Structure and dynamics of the EGFR/HER2 heterodimer
Authors: Zhang Zhe , Bai Xue , Sun Pengyu , Wang Xinghao , Long Changkun , Liao Shuyun , Dang Song , Zhuang Shangshang , Du Yongtao , Zhang Xinyi , Li Nan , He Kangmin 
Published: January 2023

Abstract
HER2 belongs to the human epidermal growth factor receptor tyrosine kinase family. Its overexpression or hyperactivation is a leading cause for multiple types of cancers. HER2 functions mainly through dimerization with other family members, such as EGFR. However, the molecular details for heterodimer assembly have not been completely understood. Here, we report cryo-EM structures of the EGF- and epiregulin-bound EGFR/HER2 ectodomain complexes at 3.3-Å and 4.5-Å resolution. Together with the functional analyses, we demonstrate that only the dimerization arm of HER2, but not that of EGFR, is essential for their heterodimer formation and signal transduction. Moreover, we analyze the differential membrane dynamics and transient interactions of endogenous EGFR and HER2 molecules in genome-edited cells using single-molecule live-cell imaging. Furthermore, we show that the interaction with HER2 could allow EGFR to resist endocytosis. Together, this work deepens our understanding of the unique structural properties and dynamics of the EGFR/HER2 complex.
Declining incidence of cerebral palsy in South Korea: Linked analysis of the National Health Insurance database and the health screening data
Authors: Kim Gun-Ha , Lee Gisu , Ha Sungyeon , Cho Geum Joon , Kim Yoon Ha 
Published: January 2023

Abstract
Background
Presuming that the prevalence of cerebral palsy (CP) in Korea is decreasing due to medical advances, we analyzed the trends and risk factors of CP in changing circumstances.
Methods
We identified all women who delivered a singleton between 2007 and 2015 using the Korea National Health Insurance (KNHI). Information on pregnancy and birth was obtained by linking the KNHI claims database and data from the national health-screening program for infants and children.
Results
Over 90% of children with CP were diagnosed within four years of birth. Moreover, the 4-year incidence of CP decreased significantly from 4.77 to 2.52 per 1000 babies during the study period. Multivariate analysis showed that the risk of developing CP was 3.9 times higher in babies with preterm birth, 5.6 times higher in those with birth weight <2500 g, and 4.1 times higher in pregnancies with polyhydramnios. Over time, the number of preterm births and babies with low birth weight decreased, while polyhydramnios became slightly more prevalent.
Conclusion
In Korea, the incidence of CP in singleton decreased from 2007 to 2015. In addition, the number of preterm births and babies with a low birth weight, which are major risk factors for CP, also declined.
Semantic Term weighting representation for Kannada Document Classification
Authors: Rangan R Kasturi , Harish B S 
Published: January 2023

Abstract
In natural language processing, sequence order of terms plays a vital role. This positional sequence information helps in the semantic analysis of the natural language. The absence of semantic information in term weighting methods motivated us to propose the semantic term weighting representation. On the other hand, to address the demand for Indian regional language resources, especially for the Kannada language we have created an 11,045 Kannada documents dataset. This dataset is multilabel and unbalanced. The proposed semantic term weighting representation methods (Term Frequency-Positional encoding (TF-PE) and Term Frequency-Inverse document frequency-Positional encoding (TF-IDF-PE)) are applied to the proposed dataset. Further, the K-Fold and normal train-test split experimentations are carried out on the proposed dataset. Among the proposed representation methods Unicode encoded Term Frequency-Inverse document frequency-Positional encoding (TF-IDF-PE) representation performed better than Term frequency-Positional encoding (TF-PE) representation. The Unicode encoded TF-IDF-PE representation with the SVM classifier yields better average accuracy of 68.62% in K-10 Fold experimentations.
Sedimentation Analysis of Kabul River by Using Hec-ras
Authors: Raji Baz Mohammad , Turabi Hamidullah , Nasimi Mohammad Nasim 
Published: January 2023

Abstract
Rivers are the main and easily available source of water for various uses, and one of the main aims of river engineering is to control sedimentation and erosion. Due to strategic and environmental circumstances, the Kabul River is a well-known river in Afghanistan that attracts much interest for its water project design, existing reservoirs, and water supply to towns and industrial units. The Kabul river carries and delivers the highest sediment loads among the rivers of Afghanistan, and river sedimentation is a serious problem in Kabul city. The HEC-RAS (Hydrologic Engineering Centre River Analysis System) model is used to evaluate the hydrological parameters and sedimentation processes for variations in transverse and longitudinal profile, velocity and shear stress fluctuation, mass change, bed level change, total sediment, erosion, and deposition problems in a 40-KM section of the Kabul River in Kabul Province, from Pul-i-Surkh station of Maidan Province to Tangi-Gharo station of Kabul City. Some branch rivers and streams have joined from two sides along this river, which increases the sediment. More sedimentation is caused by population growth, nonstandard construction around the river, and the desire for a sanitation system in Kabul City. And also, having a low and variable slope in the middle length of this river causes more sediment problems. The study period for this research was from January 2016 to June 2020. A useful pattern of the conditions in Kabul City and the impacts of sediment transport, erosion, and sedimentation processes can be the output of this study.
Do Green Investments Improve Air Quality? Evidence for Developed and Developing European Countries
Authors: İlbasmış Metin , Çitil Mücahit , Demirtas Furkan , Ali Muhammad , Barut Abdulkadir , Mohsin Mohammad 
Published: January 2023

Abstract
A large part of the energy supply required for production in the world consists of non-renewable energy sources such as coal, oil, and natural gas. Due to the serious increases in these energy sources in the world, countries facing the threat of climate change and increasing global warming have had to direct their energy policies to reduce carbon emissions. In this respect, promoting and increasing renewable energy, known as clean, green energy, and environmentally friendly, is an important factor in reducing carbon emissions in nature. In this context, in this study, the effect of green investment on air quality for two country groups was examined. As a result of the analysis, it was determined that the results differed both for the country groups and for the short and long term.
Membrane protease prostasin promotes insulin secretion by regulating the epidermal growth factor receptor pathway
Authors: Ishii Toshihisa , Miyasato Yoshikazu , Ichijo Masashi , Uchimura Kohei , Furuya Fumihiko 
Published: January 2023

Abstract
Prostasin (PRSS8) is a serine protease that metabolizes and moderates the effect of specific substrates. Epidermal growth factor receptor (EGFR), which modulates insulin secretion and pancreatic β-cell proliferation, is regulated via proteolytic shedding by PRSS8. We first detected PRSS8 expression in β-cells of pancreatic islets of mice. To better understand the molecular processes involved in PRSS8-associated insulin secretion, pancreatic β-cell-specific PRSS8 knockout (βKO) and PRSS8-overexpressing (βTG) male mice were generated. We found that glucose intolerance and reduction in glucose-stimulated insulin secretion developed in βKO mice compared with the control subjects. A higher response to glucose was noted in islets retrieved from βTG mice. Erlotinib, a specific blocker of EGFR, block both EGF- and glucose-stimulated secretion of insulin among MIN6 cells, and glucose improves EGF release from β-cells. After silencing PRSS8 in MIN6 cells, glucose-stimulated insulin secretion decreased, and EGFR signaling was impaired. Conversely, overexpression of PRSS8 in MIN6 cells induced higher concentration of both basal and glucose-stimulated insulin secretion and increased phospho-EGFR concentrations. Furthermore, short term exposure to glucose improved the concentration of endogenous PRSS8 in MIN6 cells through inhibition of intracellular degradation. These findings suggest that PRSS8 is involved in glucose-dependent physiological regulation of insulin secretion via the EGF–EGFR signaling pathway in pancreatic β-cells.
Blockchain Technology for Sustainable Supply Chains: A Network Cluster Analysis for Future Research Propositions
Authors: Yadav Nidhi , Luthra Sunil , Garg Dixit 
Published: January 2023

Abstract
Achieving the sustainable goals of the United Nations requires improving supply chain sustainability. BlockChain Technology (BCT) has attracted attention on a global level with the ability to transform supply chain management and sustainability efforts. Recognizing this, this study investigates how BCT plays a role in a Sustainable Supply Chain (SSC). The current study looks into the importance of BCT in order to move supply networks toward sustainability by performing bibliometric analysis, and network cluster analysis. Through the literature review, the current literature was analyzed and future research directions were concluded. We begin our study by selecting 297 papers on the relevant subject by applying various filters to the Web of Science (WoS) database. Influential individuals, journals, and organizations in this field were identified using bibliometric analysis. A network analysis was performed to identify influential co-author, and keywords, and for page rank, and cluster analysis. The network analysis revealed ten distinct study clusters, and ten propositions were suggested from the analysis of these clusters. Additionally, a conceptual framework for the research was proposed can advise managers, practitioners, and, researcher communities on the key trends and topics. Further, to guide research scholars in this field, thirty-three future research directions were suggested.
Safety, Patient Satisfaction and Necessity of Acupoint Autohemotherapy: A Multi-centre Cross- sectional Study
Authors: Zeng Zhiwen , Lin Yingqi , Wang Yajun , Cai Yihang , Chen Xinxiong , Huang Zhiqian , Yu Xiao , Yan Shihua , Yuan Xiaoling , Li Shan , Li Junxiong , Chen Yong , Zhang Dongshu 
Published: January 2023

Abstract
Background and Objective: Over the past few decades, a lot of research on acupoint autohemotherapy (A-AHT) has been published in China. However, lack of knowledge about adverse events (AEs) of A-AHT contributing to clinicians’ reluctance to utilize this novel method. The main aim of this multicenter study used a questionnaire to assess the safety, patient satisfaction and necessity of A-AHT among health care practitioners and recipients.
Methods: From March to May 2022, questionnaires including topics such as background data, evaluation of A-AHT side effects and satisfaction levels were distributed to patients receiving A-AHT treatment and medical personnel (nurses and doctors) in 43 centers across 30 cities and regions of China. Associations between paticipants’ characteristics and their view of efficacy, safety, satisfaction, and necessity of A-AHT were investigated using paired student’s t-test, chi-square test, and Pearson’s correlations.
Results: 76 healthcare professionals (HPs) and 71 patients completed the survey questionnaires. It was showed that the experienced HPs were more firmly of the view that A-AHT treatment was effective, safe and satisfactory than the patients. In comparison to the other patients, the rhinitis patients thought A-AHT was safer, more satisfying, and more necessary.Local pain (63.2%) and ecchymosis (40.8%) are the two AEs of HPs that cause the most concern. Also, local pain was most frequently experienced by the patients (47.9%). However, HPs' experiences using A-AHT tended to be more problematic than those of the patients. A positive correlation (R=0.649. P<0.05) was found between patients’ view of efficacy and satisfaction.
Conclusion: The experienced HPs were more convinced than the patients that A-AHT was efficient, safe, and satisfactory. However, patients had fewer issues than anticipated, according to HPs. To encourage A-AHT treatment, all practitioners must have a thorough understanding of the potential AEs of A-AHT.
The Status of data management practices throughout the Data Life Cycle: a Mixed-Method Study across MIRACUM Data Integration Centers
Authors: Gierend Kerstin , Freiesleben Sherry , Kadioglu Dennis , Siegel Fabian , Ganslandt Thomas , Waltemath Dagmar 
Published: January 2023

Abstract
Background
In the context of the Medical Informatics Initiative funded by the German government, medical data integration centers have implemented complex data flows to load routine health care data into research data repositories for secondary use. Data management practices are of importance throughout these processes, and special attention should be given to provenance aspects. Additionally, insufficient knowledge about these processes can lead to validity risks and weaken the quality of the extracted data. The need to collect provenance data during the data life cycle is undisputed, but there is a great lack of clarity on the status. Our study examines the current provenance tracking practices throughout the data lifecycle within the MIRACUM consortium. We outline the current data management maturity status and present recommendations to enable a trustful dissemination and re-use of patient data.
Methods
Our study design is based on a mixed-method study. We conducted semi-structured interviews with stakeholders from ten data integration centers between July and September 2021. We used a self-designed questionnaire that we tailored to the MIRACUM data integration centers, to collect qualitative and quantitative data. Our study method is compliant with the Good Reporting of a Mixed Methods Study (GRAMMS) checklist.
Results
From a provenance perspective, our study provides insights into the data management practices concerning data extraction, transformation, storage, and provision. We identified several traceability and reproducibility issues that can be partially explained with a lack of contextual information within non-harmonized workflow steps, unclear responsibilities, missing or incomplete data elements and incomplete computational environment information. Based on the identified shortcomings, we suggest a data management maturity framework to reach more clarity and to help define enhanced data management strategies.
Conclusions
In this study, we present insights on provenance practices at the data integration centers. The data management maturity framework supports the production and dissemination of accurate and provenance enriched data for their second use. Furthermore, our work serves as a catalyst for the derivation of an overarching data management strategy, abiding data integrity and provenance characteristics as a key factor for quality and FAIR sustained health and research data.
Estimation of river high flow discharges using friction-slope method and hybrid models
Authors: Shirazi Fatemeh , zahiri Abdolreza , Piri Jamshid , Dehghani Amir Ahmad 
Published: January 2023

Abstract
Severe flood is considered as one of the most important hydro-geomorphic hazards in catchment and urban scales. The correct estimation of flood flow in rivers is an important issue and plays a significant role in the optimal use of water resources, operation of dam reservoirs, and the design and planning of flood control projects. Despite the advances in hydrological models for flood prediction, these models suffer from many drawbacks and still have errors for the prediction. Hydraulic models also face with many uncertainties especially in riverbed Manning roughness coefficient and energy slope of the river. In this study, flood discharge estimation based on a new method of Friction-Slope or parameter α has been discussed for three alluvial rivers located in Golestan province in Iran. The calculation method is based on the Manning formula and takes into account the effects of energy slope of the river, as well as Manning roughness coefficient of the riverbed. For calculation of parameter α based on the simple and frequently available input variables of the river cross section (flow depth, flow area and hydraulic radius), hybrid methods of Particle Swarm Optimization-Support Vector Regression (SVR-PSO), Grey Wolf Optimization- Support Vector Regression (SVR- GWO), and Response Surface Method-Support Vector Regression (SVR-RSM) have been used and finally river flow discharges have been calculated and compared with the measured data. The optimum structures of hybrid models were determined using statistical evaluation criteria such as coefficient of determination (R²), mean absolute error (MAE), root mean square error (RMSE) and conformity index (d). The results showed that the SVR-RSM model has the best accuracy with R2=0.97, MAE=0.22, RMSE=1.66 and d=0.99 in the test phase. After determining parameter α using the RSM-SVR model, the river flow rates were calculated and compared with the observed values.
Endocrine disruptors concentrations in drinking water samples from México and their health implications
Authors: Vargas-Berrones Karla Ximena , Izar-Landeta Juan Manuel , Bernal-Jácome Luis Armando , Sánchez-García Jennifer Iridian , Flores-Ramírez Rogelio 
Published: January 2023

Abstract
Nonylphenol ethoxylate, used mainly in detergent production, is transformed under environmental conditions into the endocrine disruptor, Nonylphenol (NP). 4-Nonylphenol (4-NP) was identified in drinking water samples from a developing country without regulations (Mexico) to establish exposure and environmental concentrations. The extraction and quantification of 4-NP were performed using solid phase microextraction (SPME) combined with gas chromatography-mass spectrometry (GC-MS). A derivatization process was carried out to increase sensitivity in the method. Eighty percent of the samples showed concentrations above the detection limit, and 57% of the samples presented concentrations above the Directive on the Quality of Water intended for human consumption (0.3 µg L-1). Our data gives an overview of the exposure levels and the environmental and health risks that these may represent. According to the results, continuous monitoring and regulations of this pollutant are highly recommended to prevent exposure and ecological and health effects.
RNF115 deficiency upregulates autophagy and inhibits hepatocellular carcinoma growth
Authors: Gu Zhaohui , Feng Jinqiu , Hai Bao , Lou Yaxin , Duan Mengyuan , Guo Pengli , Lv Ping , Zhu Bin , chen yingyu 
Published: January 2023

Abstract

E3 ubiquitin ligase Ring finger protein 115 (RNF115), also known as Breast cancer-associated gene 2 (BCA2) has been linked with the proliferation, migration, and invasion of breast cancer. Our study demonstrated that RNF115 is a negative regulator of autophagy in hepatoma cells. Inactivation ofRNF115can promote autophagosome formation, the fusion of autophagosomes with lysosomes, and the degradation of autophagic substrate. These effects may be related to the enhanced binding ability of RAB7 and HOPS complex and enhanced activity of ATG14 inRNF115-silenced cells. High levels of RNF115 were exhibited in most hepatic cancer tissues compared to that of the non-tumor liver tissues. Low levels of RNF115 were associated with significantly longer survival of patients with hepatocellular carcinoma. Furthermore,RNF115silencing inhibited cellular growth and migration, and reduced tumorigenicity in a hepatoma cell xenograft model. In a DEN-induced hepatocellular carcinoma model,Rnf115KO mice developed fewer and smaller liver tumors than the WT littermates, indicating that RNF115-mediated autophagy is negatively correlated with the occurrence and development of hepatocellular carcinoma. These findings provide an experimental foundation for the prevention and treatment of hepatocellular carcinoma by targeting RNF115.