bluuebunny/crossref_metadata_2025_split huggingface dataset:
New Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family
Authors: Toth-Bencsik Renata , Balicza Peter , Varga Edina Timea , Lengyel Andras , Rudas Gabor , Gal Aniko , Molnar Maria Judit 
Published: June 2021

IntroductionPhospholipase A2-associated Neurodegeneration (PLAN) is a group of neurodegenerative diseases associated with the alterations of PLA2G6. Some phenotype-genotype association are well known but there is no clear explanation why some cases can be classified into distinct subgroups, while others follow a continuous clinical spectrum.MethodsLong-term neurological, and psychiatric follow-up, neuropathological, radiological, and genetic examinations, were performed in three affected girls and their family.ResultsTwo 24-years old twins and their 22-years old sister harbored the p.P622S, and p.R600W mutation in PLA2G6. The age of onset and the most prominent presenting symptoms (gaze palsy, ataxia, dystonia, psychomotor regression indicated atypical neuroaxonal dystrophy (ANAD), however, optic atrophy, severe tetraparesis would fit into infantile neuroaxonal dystrophy (INAD). All siblings had hyperintensity in the globi pallidi and substantiae nigrae which is reported in ANAD, whereas it is considered a later neuroradiological marker in INAD. The slow progression, rigidity, bradykinesis, and the prominent psychiatric symptoms indicate PLA2G6-related dystonia-parkinsonism. Abnormal mitochondria, lipid accumulation and axonal spheroids were observed in the muscle and nerve tissue. Brain deposition appeared 6 years following the initial cerebellar atrophy. Mild MRI alterations were detected in the asymptomatic carrier parents.ConclusionThe colorful clinical symptoms, the slightly discordant phenotype, and the neuroimaging data in the family supports the view that despite the distinct definition of age-related phenotypes in PLAN, these are not strict disease categories, but rather a continuous phenotypic spectrum. The mild MRI alterations of the parents and the family history suggest that even heterozygous pathogenic variants might be associated with clinical symptoms, although systematic study is needed to prove this.
Whole-Exome Sequencing for Identification of Genetic Variants Involved in Vitamin D Metabolic Pathways in Families With Vitamin D Deficiency in Saudi Arabia
Authors: Alharazy Shatha , Naseer Muhammad Imran , Alissa Eman , Robertson Margaret Denise , Lanham-New Susan , Chaudhary Adeel G. 
Published: June 2021

BackgroundNumerous research studies have found an association between vitamin D (vitD) status and single-nucleotide polymorphisms (SNPs) in genes involved in vitD metabolism. It is notable that the influence of these SNPs on 25-hydroxyvitamin D [25(OH)D] levels might vary in different populations. In this study, we aimed to explore for genetic variants in genes related to vitD metabolism in families with vitD deficiency in Saudi Arabia using whole-exome sequencing (WES).MethodsThis family-based WES study was conducted for 21 families with vitD deficiency (n = 39) in Saudi Arabia. WES was performed for DNA samples, then resulting WES data was filtered and a number of variants were prioritized and validated by Sanger DNA sequencing.ResultsSeveral missense variants in vitD-related genes were detected in families. We determined two variants in low-density lipoprotein 2 gene (LRP2) with one variant (rs2075252) observed in six individuals, while the other LRP2 variant (rs4667591) was detected in 13 subjects. Single variants in 7-dehydrocholesterol reductase (DHCR7) (rs143587828) and melanocortin-1 receptor (MC1R) (rs1805005) genes were observed in two subjects from two different families. Other variants in group-specific component (GC), cubilin (CUBN), and calcium-sensing receptor (CASR) gene were found in index cases and controls. Polymorphisms in GC (rs9016) and CASR (rs1801726) were found in the majority of family cases (94 and 88%), respectively.ConclusionIn vitD-deficient families in Saudi Arabia, we were able to detect a number of missense exonic variants including variants in GC (rs9016), CUBN (rs1801222), CASR (rs1801726), and LRP2 (rs4667591). However, the existence of these variants was not different between affected family members and non-affected controls. Additionally, we were able to find a mutation in DHCR7 (rs143587828) and a polymorphism in LRP2 (rs2075252), which may affect vitD levels and influence vitD status. Further studies are now required to confirm the association of these variants with vitD deficiency.
Serum Bilirubin Is Correlated With the Progression of IgA Vasculitis With Nephritis
Authors: Tan Jiaxing , Pei Gaiqin , Xu Yicong , Hu Tengyue , Tan Li , Zhong Zhengxia , Tarun Padamata , Tang Yi , Qin Wei 
Published: June 2021

Background: Bilirubin has been identified as an endogenous antioxidant and cellular protectant. The present study was performed to clarify the potential influence of serum bilirubin on IgA vasculitis with nephritis (IgAV-N).Methods: One hundred and eighty-nine IgAV-N patients over 14 years old were enrolled. The patients were divided into two groups by the optimum cut-off value calculated by ROC curve. The composite endpoints were defined as a 60% decline in estimate glomerular filtration rate (e-GFR), end-stage renal disease (ESRD) and/or death. Kaplan-Meier (K-M) analysis and multivariate Cox analysis were carried out to determine the predictors for renal outcomes. In order to eliminate the influence of different baseline data, a 1:2 propensity score (PS) match was performed to make the results comparable and convictive.Results: The baseline data suggested that patients in low serum bilirubin group had significantly higher levels of systolic blood pressure, proteinuria, serum creatinine and crescent formation ratio and lower levels of serum albumin and hemoglobin. Renal survival analysis indicated that lower serum bilirubin levels were significantly correlated with a poorer prognosis. Multivariate Cox analysis demonstrated that the higher level of serum bilirubin was an independent protective factor for renal survival (HR, 0.172; 95% CI, 0.030–0.991; P = 0.049). After PS matching, the baseline characters of two groups had no statistical differences. Similar outcomes were demonstrated in K-M curve and the multivariate Cox analysis.Conclusion: Elevated bilirubin levels might be related to the favorable renal outcomes.
A Novel Identified Long Non-coding RNA, lncRNA MEF2C-AS1, Inhibits Cervical Cancer via Regulation of miR-592/RSPO1
Authors: Wang Xiaoping , Zhang Changhong , Gong Meixuan , Jiang Chen 
Published: June 2021

Purpose: Our purpose was to investigate the effect of lncRNA MEF2C antisense RNA 1 (MEF2C-AS1) on cervical cancer and further explore its underlying molecular mechanisms.Methods: The proliferation, migration and invasion of CC cells were determined by counting Kit-8 (CCK-8), colony formation assay, and transwell assays, respectively. qRT-PCR and western blot were conducted to quantitatively detect the expression of lncRNA MEF2C-AS1, miR-592 and R-spondin1 (RSPO1). Kaplan-Meier survival curve from the Cancer Genome Atlas (TCGA) database and the Gene Expression Profiling Interactive Analysis (GEPIA) website was used to describe the overall survival. Bioinformatics analysis was performed to search the downstream target of lncRNA MEF2C-AS1 and miR-592. Luciferase reporter assay was conducted to detect the interaction between lncRNA MEF2C-AS1 and miR-592 or miR-592 and RSPO1.Results: The data from GEPIA website showed that lncRNA MEF2C-AS1 expression was down-regulated in CC tissues and also associated with survival rate of CC patients. Moreover, the results of qRT-PCR also showed lncRNA MEF2C-AS1 was lowly expressed in CC cells. Subsequently, we confirmed that overexpression of lncRNA MEF2C-AS1 inhibited the proliferation, migration and invasion of CC cells. Further research illustrated that lncRNA MEF2C-AS1 was the target of miR-592, and RSPO1 was the downstream target gene of miR-592. Importantly, functional research findings indicated that lncRNA MEF2C-AS1 inhibited CC via suppressing miR-592 by targeting RSPO1.Conclusion: In our study, we demonstrated the functional role of the lncRNA MEF2C-AS1-miR-592-RSPO1 axis in the progression of CC, which provides a latent target for CC treatment.
Assessment Methods of Post-stroke Gait: A Scoping Review of Technology-Driven Approaches to Gait Characterization and Analysis
Authors: Mohan Dhanya Menoth , Khandoker Ahsan Habib , Wasti Sabahat Asim , Ismail Ibrahim Ismail Alali Sarah , Jelinek Herbert F. , Khalaf Kinda 
Published: June 2021

Background: Gait dysfunction or impairment is considered one of the most common and devastating physiological consequences of stroke, and achieving optimal gait is a key goal for stroke victims with gait disability along with their clinical teams. Many researchers have explored post stroke gait, including assessment tools and techniques, key gait parameters and significance on functional recovery, as well as data mining, modeling and analyses methods.Research Question: This study aimed to review and summarize research efforts applicable to quantification and analyses of post-stroke gait with focus on recent technology-driven gait characterization and analysis approaches, including the integration of smart low cost wearables and Artificial Intelligence (AI), as well as feasibility and potential value in clinical settings.Methods: A comprehensive literature search was conducted within Google Scholar, PubMed, and ScienceDirect using a set of keywords, including lower extremity, walking, post-stroke, and kinematics. Original articles that met the selection criteria were included.Results and Significance: This scoping review aimed to shed light on tools and technologies employed in post stroke gait assessment toward bridging the existing gap between the research and clinical communities. Conventional qualitative gait analysis, typically used in clinics is mainly based on observational gait and is hence subjective and largely impacted by the observer's experience. Quantitative gait analysis, however, provides measured parameters, with good accuracy and repeatability for the diagnosis and comparative assessment throughout rehabilitation. Rapidly emerging smart wearable technology and AI, including Machine Learning, Support Vector Machine, and Neural Network approaches, are increasingly commanding greater attention in gait research. Although their use in clinical settings are not yet well leveraged, these tools promise a paradigm shift in stroke gait quantification, as they provide means for acquiring, storing and analyzing multifactorial complex gait data, while capturing its non-linear dynamic variability and offering the invaluable benefits of predictive analytics.
Identification of Novel Alternative Splicing Events Associated With Tumorigenesis, Protein Modification, and Immune Microenvironment in Early-Onset Gastric Cancer
Authors: Zhang Jian , Goel Ajay , Zhu Lin 
Published: June 2021

BackgroundAlternative splicing (AS), e.g. the tandem alternative polyadenylation (TAPA), has emerged as major post-transcriptional modification events in human disease. However, the roles of the AS and TAPA in early-onset gastric cancer (EOGC) have not been revealed.MethodsThe global AS profiles of 80 EOGC patients were analyzed. The EOGC-specific AS events (ESASs) were identified in both the EOGC and adjacent non-tumor tissues. The functional enrichment analysis, Splicing network, Alternative Polyadenylation (APA) core factor network, and cell abundancy analysis were performed. Furthermore, the landscapes of the AS events in the varied subtypes of the EOGC patients were evaluated.ResultsOverall, 66,075 AS events and 267 ESASs were identified in the EOGC. Furthermore, 4809 genes and 6152 gene isoforms were found to be aberrantly expressed in the EOGC. The Gene Ontology (GO) and Kyoto Encyclopedia of Gene and Genome (KEGG) pathway analyses showed that the significant pathway alterations might exist in these AS events, genes, and gene isoforms. Moreover, the Protein-protein interaction (PPI) network analysis revealed that the UBC, NEK2, EPHB2, and DCTN1 genes were the hub genes in the AS events in the EOGC. The immune cell infiltration analysis indicated a correlation between the AS events and the cancer immune microenvironment. The distribution of the AS events in varied EOGC subtypes, protein phosphorylation and glycosylation was uneven.ConclusionThe study highlighted the vital roles of the AS in the EOGC, including modulating the specific protein modification and reshaping the cancer immune microenvironment, and yielded new insights into the diagnosis of the EOGC as well as cancer treatment.
Mean Platelet Volume/Platelet Count Ratio and Risk of Progression in Glioblastoma
Authors: Wach Johannes , Apallas Stefanos , Schneider Matthias , Weller Johannes , Schuss Patrick , Vatter Hartmut , Herrlinger Ulrich , Güresir Erdem 
Published: June 2021

ObjectiveThe mean platelet volume/platelet count (MPV/PC) ratio is an emerging biomarker in selected types of cancer. The objective of this study is to analyze the association of MPV/PC ratio with progression and survival in glioblastoma (GB) patients, with consideration of patient demographics, tumor morphology, extent of resection, molecular pathology, and oncological therapy.MethodsOne hundred ninety-one patients with newly diagnosed GB were analyzed retrospectively. MPV/PC ratio groups (≤ or &gt;0.0575) were dichotomized into low-MPV/PC ratio (≤0.0575) and high-MPV/PC ratio (&gt;0.0575) groups according to the most significant split in the log-rank test.ResultsA two-sided Fisher’s exact test showed no significant differences in the confounders between the low- and high-MPV/PC ratio groups. The median progression-free survival (PFS) was 9.0 months (95% CI=8.0–10.0) in the low-MPV/PC ratio group (n=164) and 6.0 months (95% CI=3.0–8.9) in the high-MPV/PC group (n=28) (p=0.013). Multivariate Cox regression analysis including the O-6-methylguanine-DNA methyltransferase (MGMT) status, age (≤/&gt;65 years), baseline Karnofsky Performance Status (KPS), and MPV/PC ratio showed high-MPV/PC ratio as a predictor of progression (p =0.04, HR=1.61, 95% CI=1.01–2.57). In the subgroup of IDH1 wild-type GBs, high MPV/PC ratio was still a significant predictor for shortened PFS (p=0.042, HR=1.60, 95% CI=1.02–2.52). MPV/PC ratio showed no significant effect in the overall survival (OS) analysis. Median OS was 15.0 months in the high-MPV/PC ratio group and 21.0 months in the low-MPV/PC ratio group (p=0.22).ConclusionMPV/PC ratio may independently predict the progression-free survival rates of patients with glioblastoma multiforme.
Test–Retest Reliability and Responsiveness of PROMIS Sleep Short Forms Within an RCT in Women With Fibromyalgia
Authors: Chimenti Ruth L. , Rakel Barbara A. , Dailey Dana L. , Vance Carol G. T. , Zimmerman Miriam B. , Geasland Katharine M. , Williams Jon M. , Crofford Leslie J. , Sluka Kathleen A. 
Published: June 2021

Background: Nonrestorative sleep is commonly reported by individuals with fibromyalgia, but there is limited information on the reliability and responsiveness of self-reported sleep measures in this population.Objectives: (1) Examine the reliability and validity of the Patient-Reported Outcomes Measurement Information System (PROMIS) sleep measures in women with fibromyalgia, and (2) Determine the responsiveness of the PROMIS sleep measures to a daily transcutaneous electrical nerve stimulation (TENS) intervention in women with fibromyalgia over 4 weeks compared with other measures of restorative sleep.Methods: In a double-blinded, dual-site clinical trial, 301 women with fibromyalgia were randomly assigned to utilize either Active-TENS, Placebo-TENS, or No-TENS at home. Measures were collected at baseline and after 4 weeks of treatment. To assess self-reported sleep, the participants completed three PROMIS short forms: Sleep Disturbance, Sleep-Related Impairment, Fatigue, and the Pittsburgh Sleep Quality Index (PSQI). To assess device-measured sleep, actigraphy was used to quantify total sleep time, wake after sleep onset, and sleep efficiency. Linear mixed models were used to examine the effects of treatment, time, and treatment*time interactions.Results: The PROMIS short forms had moderate test–retest reliability (ICC 0.62 to 0.71) and high internal consistency (Cronbach's alpha 0.89 to 0.92). The PROMIS sleep measures [mean change over 4 weeks, 95% confidence interval (CI)], Sleep Disturbance: −1.9 (−3.6 to −0.3), Sleep-Related Impairment: −3 (−4.6 to −1.4), and Fatigue: −2.4 (−3.9 to −0.9) were responsive to improvement in restorative sleep and specific to the Active-TENS group but not in the Placebo-TENS [Sleep Disturbance: −1.3 (−3 to 0.3), Sleep-Related Impairment: −1.2 (−2.8 to 0.4), Fatigue: −1.1 (−2.7 to 0.9)] or No-TENS [Sleep Disturbance: −0.1 (−1.6 to 1.5), Sleep-Related Impairment: −0.2 (−1.7 to 1.4), Fatigue: –.3 (−1.8 to 1.2)] groups. The PSQI was responsive but not specific with improvement detected in both the Active-TENS: −0.9 (−1.7 to −0.1) and Placebo-TENS: −0.9 (−1.7 to 0) groups but not in the No-TENS group: −0.3 (−1.1 to 0.5). Actigraphy was not sensitive to any changes in restorative sleep with Active-TENS [Sleep Efficiency: −1 (−2.8 to 0.9), Total Sleep Time: 3.3 (−19.8 to 26.4)].Conclusion: The PROMIS sleep measures are reliable, valid, and responsive to improvement in restorative sleep in women with fibromyalgia.Clinical Trial Registration:www.ClinicalTrials.gov, identifier: NCT01888640.
Collective Organizational Engagement & Work Engagement as Anchor Strategies to Sustain Green Organizational Performance A Case Study on Indonesian Organizational Services
Authors: Noor Thamrin Muhammad 
Published: June 2021

It is generally believed that by orchestrating a nomological network to leverage COE which strongly supported by transformative leadership style, Practices in HRM, leadership style and working design could lead to condusive organizational performance. This research is to empirically analyze the antecedents of green organizational performance mediated through Collective Organizational Engagement (COE) and work engagement. Current study deployed Structural Equation Modeling (SEM) with Amos 24 to statistically investigate proposed hypotheses. Survey is also conducted with questionnaires to collect data with non-probability sampling. Upper-Echelon Leaders, Top-Mid Level Managers and long-Level Employees present as sample from 100 organization as population. Statistical outputs demonstrated that Green Working Design, Green Leadership Behavior and Green HRM Practices significantly showed as the antecedent of COE, GWD and Green HRM Practices also proved as the key factors on Work Engagement. Furthermore, COE and WE play crucial moderating variable on Green Organizational Performance. The study also provided theoretical, research limitation and further research..
ANALISIS BELANJA DAERAH PEMERINTAH KOTA MAGELANG TAHUN 2015-2019
Authors: Endah Purwaningsih  , Priyono Nuwun 
Published: June 2021

Local Expenditure is all local government obligations recognized as a reduction in the value of net worth within the period of the relevant fiscal year. The government's success in managing regional spending can be seen from the output/results achieved by using the budget. Whether the achievement of the results provides benefits to the community or not. Good results show that local governments are performing well. The purpose of this research is to find out the financial performance of Magelang city government by conducting analysis of regional spending in fiscal year 2015-2019. The method used in this study is quantitative data measurement which results are interpreted with descriptive analysis methods. The results of this study show the Magelang City Government has been performing quite well. This is seen from the variance analysis showing budget planning and efforts to achieve budget usage efficiency are good enough, spending growth is volatile and positive, and the cost efficiency ratio is quite effective with an average efficiency rate of 85.47%. Even so, the Government still needs to improve the balance between capital expenditure and operating expenditure.
PENGEMBANGAN VIDEO TUTORIAL PRAKTIKUM KIMIA UMUM BERBASIS KEHIDUPAN SEHARI-HARI DI MASA COVID-19
Authors: Fitriyah Dina 
Published: June 2021

The learning process that has been carried out in the General Chemistry practicum course during the COVID-19 pandemic is felt to be less than optimal. Learning General Chemistry during the Covid-19 pandemic was carried out boldly for theoretical material. However, another big problem is how to carry out practicum activities without laboratory access during the Covid-19 pandemic. Practical video media based on daily life utilizing computer technology in learning through practicum activities. Utilization of science and technology (science and technology) as a means of supporting learning is one of the positive impacts in developing knowledge. With the practical video in learning activities that are equipped with a combination of images and sound, the material can be visualized so that students can practice concluding and knowing laboratory materials and tools. Therefore, a step is needed to design a video tutorial based on daily life so that students can still do practicum through zoom because the tools and practicum materials are designed that are easy for students to support. Based on research conducted on K09 class students of Chemical Education, Raja Ali Haji Tanjungpinang University, it can show that the activities and responses of students to daily life-based practicum video tutorials are very good. So that the video media tutorial for general chemistry practicum based on everyday life can be used in the learning process.
Keywords: covid19; practice; general chemistry; video