bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Novel Missense Variant in the ESRRB Gene Causing Nonsyndromic Hearing Loss: In Silico Analyses of a Case
Authors: Ghasemnejad Tohid , Khaniani Mahmoud Shekari , Nojadeh Jafar Nouri , Derakhshan Sima Mansoori 
Published: July 2021

Abstract
Background: Genetic hearing loss (GHL) is a common heterogeneous disorder that can affect all ages, ethnicities, and genders. The most common form of hearing loss (HL) is autosomal recessive non-syndromic hearing loss (ARNSHL) and in most cases specific genotype-phenotype correlation is indistinguishable. This study aimed to identify the genetic cause of hearing loss in an Iranian Azeri Turkish ethnicity family with consanguine marriage which is negative for GJB2, GJB6 and mitochondrially encoded 12S RRNA (MT-RNR1) deleterious mutations.Methods: Targeted genome sequencing was applied for the detection of possible genetic causes of HL in this family. Co-segregation and in silico analysis of variant was performed by standard procedure.Results: A missense variant, c.499G>A, was identified in the ESRRB gene. Healthy and affected members of the family confirmed co-segregation of the variant with ARNSHL in the pedigree and then the pathogenicity of the variant was confirmed by in silico analysis and ACMG Guidelines. Conclusion: We report a novel missense variant in the ESRRB gene which seems to be a pathogenic variant. The result of this study suggests that the genetic background of hearing loss patients plays important role in the pathogenicity; moreover, targeted genomic capture is a powerful method that can discover pathogenic variants in heterogeneous disorders.
Principal Component-Based Logistical Regression Algorithms to Predict Health care Accessibility for Texas Medicaid Gap
Authors: Zhang Jinting , Wu Xiu 
Published: July 2021

Abstract
Background12 states without expanded Medicaid caused 2 million people who were under the poverty line across the U.S to be in Medicaid limbo and not eligible for subsidized health plans on the Affordable Care Act insurance exchanges. In order to amplify geographic equity, this paper aims to explore the health access for Medicaid gaps in Texas. MethodsPrincipal Component-based logistical regression algorithms (PCA-LA) is provided data visualization and comparison in between unadjusted and adjusted Medicaid programs. Initially, Principal Component Analysis (PCA) eliminated well-known multiplicity problems between explanatory variables in the application of epidemiology. Optimized the traditional logistical Regression (LR), the PCA-LA method, is considered health status (HS) as a dependent variable with 0 (“poor” health) and 1 (“good” health), fourteen social-economic indexes as independent variables. ResultsAfter Principal Component Analysis (PCA), four composite components incorporated health conditions (i.e., “no regular source of care” (NRC), “Last check up more than a year ago” (LCT)), demographic impacts (i.e., four categorized adults (AS)), education (ED), and marital status (MS). Compared to the unadjusted LA, direct adjusted LA, and PCA-unadjusted LA three methods, the PCA-LA approach exhibited objective and reasonable outcomes in presenting an Odd Ratio (OR). They included that health condition is positively significant to HS due to beyond 1 OR, and negatively significant to ED, AS, and MS due to less than 1 OR. ConclusionsThis paper provided quantitative evidence for the Medicaid gap in Texas to extend Medicaid, exposed healthcare geographical inequity, offered a sight for the Centers for Disease Control and Prevention (CDC) to raise researchable direction of the Medicaid program and make a timely scientific judgment of Texas healthcare accessibility.
Sustainability of a Mobile Phone Application-Based Data Reporting System in Myanmar’s Malaria Elimination Program: A Qualitative Study
Authors: Oo Win Han , Thu Kaung Myat , Cutts Julia , Htike Win , Win Kyawt Mon , Oo May Chan , Galau Naw Hkawng , Agius Paul A. , Htoon Pyae Phyo , Kearney Ellen , Thi Aung , Aung Ye Win , Thein Min Min , Rosecrans Kathryn , Lwin Kyi Tun , Min Aung Kyi , Fowkes Freya J.I. 
Published: July 2021

Abstract
Background

Strengthening surveillance systems to collect near-real-time case-based data plays a fundamental role in achieving malaria elimination in the Greater Mekong Subregion (GMS). With the advanced and widespread use of digital technology, mHealth is increasingly taking a prominent role in malaria surveillance systems in GMS countries, including Myanmar. In Myanmar’s malaria elimination program, an mHealth system called Malaria Case-based Reporting (MCBR) has been applied for case-based reporting of malaria data by integrated community malaria volunteers (ICMVs). However, the sustainability of such mHealth systems in the context of existing malaria elimination programs in Myanmar is unknown.
Methods

Focus group discussions were conducted with ICMVs and semi-structured in-depth interviews were conducted with malaria program stakeholders from Myanmar’s Ministry of Health and Sports and its malaria program implementing partners. Thematic (deductive followed by inductive) analysis was undertaken using a qualitative descriptive approach.
Results

Technological and financial constraints such as inadequate internet access, software errors, and insufficient financial resources to support mobile phone-related costs have hampered users’ access to MCBR. Poor system integrity, unpredictable reporting outcomes, inadequate human resources for system management, and inefficient user support undermined the perceived quality of the system and user satisfaction, and hence its sustainability. Furthermore, multiple parallel systems with functions overlapping those of MCBR were in use.
Conclusions

Despite its effectiveness and efficiency in malaria surveillance, the sustainability of nationwide implementation of MCBR is uncertain. To make it sustainable, stakeholders should deploy a dedicated human workforce with the necessary technical and technological capacities; secure sustainable, long-term funding for implementation of MCBR; find an alternative cost-effective plan for ensuring sustainable system access by ICMVs, such as using volunteer-owned mobile phones for reporting rather than supporting new mobile phones to them; and find a solution to the burden of multiple parallel systems.
Trial registration:
Not applicable
DOCENT: A Direct Observation Clinical Experience with feedback iN real-Time (DOCENT)
Authors: Clay Alison S. , Leiman Erin R. , Theiling Brent Jason , Song Yao , Padilla Blanca Iris , Hudak Nicholas M. , Hartman Ann Michelle , Hoder Jeffrey M. , Waite Kathleen A. , Lee Hui-Jie , Buckley Edward G. 
Published: July 2021

Abstract
Background

Observation of student skills is essential for accurate assessment of entrustment and competence. Time spent directly observing students in patient care must balance with the need to serve adequate numbers of patients and, in some instances, revenue generation. Clinical education may also be hampered by a negative learning climate. The authors created a Direct Observation Clinical Experience with feedback iN real Time (DOCENT) clinic with patients from the Emergency Department (ED) to provide care for low-acuity patients while observing student care to determine the best location for the clinic and interprofessional education opportunities.
Methods

Patient number, chief complaints, estimated severity of illness (ESI), and use of radiology resources were logged. ESI, length of stay (LOS), and satisfaction were monitored for non-inferiority to ED patients. Student evaluations collected information on amount of direct observation, quality of feedback, learning climate and both peer-to-peer and interprofessional teaching.
Results

Musculoskeletal (MSK) complaints were the most common category of complaints. Patient LOS in DOCENT was shorter than for ED patients (mean 4.5 vs. 6.4 hours, p < 0.0001). DOCENT patient satisfaction was higher than ED patient satisfaction. Patients with higher ESI could be seen when the clinic was located closer to the ED. Over 90% of students reported receiving constructive and reinforcing feedback and 100% reported a positive learning climate.
Conclusions

Creation of a DOCENT clinic in the ED provided an enriched student experience without compromising patient care. The high rates of MSK complaints provided great opportunity for interprofessional collaboration with physical therapy.
Fungicidal Activity of Five Disinfectants on Isolates of Candida Species
Authors: Bajaire Helena Lucia Martinez , Giraldo Claudia Marcela Parra , Luna Jorge Alberto Cortes , Palacios Janeth Arias 
Published: July 2021

Abstract
Determine fungicidal activity of five disinfectants on Candida auris of clinical and environmental origin. Assess fungicidal efficiency of each disinfectants on the microorganism. Calculate percentage of efficiency (% E) of each disinfectants on Candida strain and determine specific death rate (k) and decimal reduction time for the microorganism. An analytic and experimental research with quantitative methods. We realized a strains workbench by culturing it in corresponding culture media. Analysis was a challenge essay, performed on four surfaces and at different exposure times; 1, 5, 15 and 30 minutes of contact between disinfectant and yeast. Once disinfection process was carried out, what was expected was that after 15 minutes of contact between the yeasts and the disinfectants, a percentage of inhibition of the microorganism between 90 and 95% was presented, thus guaranteeing the duration of elimination of the infectious agent by disinfectants. Results shows that after one minute of contact between Candida auris and the disinfectant in a gloved hand, there was a removal of the yeast, when the clinical and environmental strain were analyzed. Data showing disinfectants efficiency percentages greater than 90% over strains of Candida used in the study. Decimal reduction times in seconds of the strains of Candida against the disinfectants used in the study were between 9.3 and 14.04 s. It was possible to evaluate effectiveness by means inhibition percentage of each disinfectants on the strains of Candida auris of clinical and environmental origin. Similarly, specific death rate and decimal reduction time in seconds were determined for strains under study.
Refractive Lens Power and Lens Thickness in Children (6-16 Years Old)
Authors: Lu Tailiang , Song Jike , Wu Qiuxin , Jiang Wenjun , Tian Qingmei , Zhang Xiuyan , Xu Jing , Wu Jianfeng , Hu Yuanyuan , Sun Wei , Bi Hongsheng 
Published: July 2021

Abstract
Purpose: To examine the refractive lens power (RLP) and lens thickness and their associated factors in children from North-Western China.Methods: Children from two schools (primary school and junior high school) in the North-Western Chinese province of Qinghai underwent a comprehensive ophthalmic examination including biometry and cycloplegic refractometry. The RLP was calculated using Bennett’s equation. Results: The study included 596 (77.9%) individuals (mean age: 11.0±2.8 years; range: 6-16 years) with a mean axial length of 23.65±1.24mm (range: 20.02-27.96mm). Mean lens thickness was 3.30±0.16mm (range: 2.85-3.99mm) and mean RLP was 24.85±1.98D (range: 19.40-32.97). In univariate analysis, girls as compared to boys had a significantly thicker lens and greater RLP, shorter axial length, smaller corneal curvature radius and shorter corneal curvature radius (all P<0.001). Both sexes did not differ significantly in refractive error (P=0.11) and corneal thickness (P=0.16). RLP was positively associated with refractive error (correlation coefficient r=0.33; P<0.001) and lens thickness (r=0.62; P<0.001) and negatively with axial length (r=−0.70; P<0.001). In univariate analysis, RLP decreased significantly with older age in the age group from age 6-13, while it plateaued thereafter, with no significant difference between boys and girls. In multivariate regression analysis, a higher RLP was associated with younger age (P<0.001; standard regression coefficient β=−0.07), female sex (P<0.001; β=−0.08), shorter axial length (P<0.001; β=−0.48) and higher lens thickness (P<0.001; β=0.42). Conclusions: In Chinese children, RLP with a mean of 24.85±1.98D decreases with older age, male sex, longer axial length, and thinner lens thickness. Changes in RLP and axial length elongation are important players in the emmetropization and myopization.
Improving Postoperative Radiographs for the Correction Planning of Hexapod External Fixator Using an Additional Foot Ring
Authors: Liu Yanshi , Liu Kai , Cai Feiyu , Zhang Xingpeng , Li Hong , Ren Peng , Zhang Tao , Yusufu Aihemaitijiang 
Published: July 2021

Abstract
Background: It is challenging to determine the orthogonality of radiographs in daily clinical practice. The purpose of this study was to show the usefulness of an additional foot ring which might determine the orthogonality of postoperative radiographs for the correction planning of hexapod external fixator.Methods: We retrospectively analyzed 81 consecutive trauma patients with tibial shaft fractures treated by the hexapod external fixator at our institution from September 2014 to July 2019. Starting in March 2016, the postoperative radiographs for fracture reduction planning were obtained under the control of an additional foot ring. In this simple way, the radiologist and the patient himself can easily control the rotation position of the limb while taking the radiographs, and the two X-rays are orthogonal to each other. The final data consisted of 47 patients in traditional radiographs (Group Ⅰ) and 34 patients under the control of foot ring during the radiographic process (Group Ⅱ). The demographic data, original postoperative deformities, number of repeated radiographs after the first postoperative radiological examination, time to the satisfactory reduction achieved, and external fixation time in all patients were documented and analyzed.Results: Satisfactory reduction and bone union were achieved in all patients. There were no statistical significances between the two groups in the demographic data, original postoperative deformities, and external fixation time (P>0.05). The mean number of repeated radiographs after the first postoperative radiological examination (1.2 times) and mean time to the satisfactory reduction achieved (3.0 days) in patients with an additional foot ring used were all less than that (2.1 times, 5.3 days) in patients without foot ring (P<0.05).Conclusions: The additional foot ring is a practical device to ensure the orthogonality of postoperative radiographs for the correction planning of hexapod external fixator. Radiation exposure, duration of deformity correction, and cost for patients might be reduced due to the less repeated radiographs with the wrong position.
Transcriptome and Proteome Analysis Reveals Corosolic Acid Inhibiting Bladder Cancer via Targeting Cell Cycle and Inducing Mitophagy in Vitro and in Vivo
Authors: Cui Anfang , Li Xiangling , Ma Xiaolei , Wang Xiao , Liu Chang , Song Zhigang , Pan Feng , Xia Yong , Li Changlin 
Published: July 2021

Abstract
Background

Existing chemotherapy and radiotherapy methods have drawbacks such as high toxicity, high side effects, poor efficacy, and chemoresistance. Therefore, there is an urgent need to develop new anti-cancer drugs with low toxicity and high efficiency for cancer therapy and the prevention of recurrence. Corosolic acid (CA) is a medicine and food homologue and has many biological activities of health care. However, the anti-tumor effects and mechanism of CA in bladder cancer remain unexplored.
Methods

To study the anticancer effect of CA on bladder cancer cells, CCK8, EdU, high-content living cell imaging experiments were performed. And the mice model was used to verify the anticancer effect and toxicity for mice. To investigate the molecular mechanism of CA inhibition on bladder cancer cells, transcriptomics and proteomics were employed. To further verify the pharmacological mechanism, flow cytometry, RT-qPCR, western blotting and immunofluorescence staining experiments were performed, and the CA targeting molecules were analyzed in combination with our experimental and public clinical data.
Results

We found that CA inhibited bladder cancer cell proliferation in a concentration- and time-dependent manner. Xenograft experiments showed that CA inhibited the growth of subcutaneous tumors, and had no toxicity in mice. Integration of omics analysis revealed that low concentrations of CA inhibited bladder cancer cells proliferation via attenuating DNA synthesis by downregulating TOP2A and LIG1, and via diminishing mitosis by downregulating CCNA2, CCNB1, CDC20, and RRM2. High concentrations of CA induced cell death not through the apoptotic pathway but through triggering mitophagy pathway via upregulating SQSTM1/P62, NBR1, and UBB.
Conclusions

CA, a natural compound homologous to medicine and food, inhibits the mitosis of bladder cancer cells at low concentrations, and kills bladder cancer cells by inducing mitophagy at high concentrations. This study provides a comprehensive understanding of the pharmacological mechanism of CA inhibition in bladder cancer for the first time, which is helpful for the development of new anti-tumor drugs based on CA.
Prognostic Significance of GRINA in Colorectal Cancer
Authors: Cui Ying , Bai Yibing , Yang Jiani , Yao Yuanfei , Li Qingwei , Lu Xiaolin , Wu Feng , Qiao Wenbo , zhang Yanqiao 
Published: July 2021

Abstract
Background: Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate-Associated Protein 1 (GRINA), also named TMBIM3, has been deemed to have oncogenic activities in gastric cancer. However, the role and molecular mechanisms of GRINA in colorectal cancer (CRC) remain largely unknown. We evaluated its prognostic value in CRC by an integrated bioinformatics analysis and experimental verification. Methods: Patients with CRC were derived from TCGA and GTEx databases. We first confirmed the expression profiles of GRINA in human cancers and compared GRINA expression between CRC and normal colorectal tissues by Wilcoxon rank sum test and Wilcoxon signed rank test. χ2 test and logistic regression analysis was used for correlation analysis, and Wilcoxon rank sum test or Kruskal-Wallis rank sum was performed to evaluate the connection between GRINA expression and clinical features. Furthermore, Kaplan-Meier’s analysis and Cox regression analysis were used to assess the correlation between GRINA expression and clinical outcomes. Colony formation and wound-healing assays were performed to observe the impact of GRINA on cell proliferation and motility. GO annotation, PPI network and GSEA were utilized to explore the underlying function of GRINA. Finally, we analyzed the correlation of GRINA in CRC with immune infiltration levels by ssGSEA.Results: We found that GRINA expression was upregulated in diverse human cancer types and especially in CRC. Higher GRINA expression was closely related to unfavorable clinicopathologic features and clinical outcomes. GRINA overexpression promotes CRC proliferation and migration in vitro. Functional enrichment analyses suggested that GRINA is involved in the most significant terms including anion transmembrane transport, cell proliferation related pathways, metabolic pathways and DNA damage and repair related pathways. GRINA expression was most positively correlated with NK CD56dim cells and negatively associated with Th2 cells through analyzing GRINA expression and immune infiltration.Conclusion: GRINA may be a potential prognostic biomarker and therapeutic target in CRC. Moreover, GRINA might accelerate CRC development and EMT by regulating the crosstalk of WNT and MYC signaling which contribute to the unfavorite survival rate and adverse immune infiltration in CRC patients.
Barriers and Gaps in Headache Education: A National Cross-sectional Survey of Neurology Residents in Denmark
Authors: Do Thien Phu , Dømgaard Mikala , Stefansen Simon , Kristoffersen Espen Saxhaug , Ashina Messoud , Hansen Jakob Møller 
Published: July 2021

Abstract
Background: A major barrier to adequate headache care is lacking formal education and training of healthcare professionals. Concerted efforts should be made to pinpoint major gaps in knowledge in healthcare professionals to facilitate better educational policies in headache training. The aim of this study was to identify deficiencies and barriers in headache training among residents in neurology in Denmark.Methods: We conducted a national cross-sectional survey of residents in neurology in Denmark from April 2019 to September 2019. The survey included questions on participant demographics, knowledge of and barriers in headache disorders, guidelines and diagnostic tools usage, contact with primary and tertiary care, medication overuse, and non-pharmacological interventions.Results: Sixty residents across Denmark accepted the invitation and 54/60 (90%) completed the survey. Although two-thirds, 35/54 (65%), of the population had prior formalized training in headache disorders, we identified gaps in all explored domains including diagnosis, management, and referral patterns. Particularly, there was an inconsistent use of guidelines and diagnostic criteria from the Danish Headache Society (2.74 (±1.14)), the Danish Neurological Society (3.15 (±0.86)), and the International Classification of Headache Disorders (2.33 (±1.08)); 1: never/have not heard of, 4: always. Headache was ranked second to last out of six sub-specializations in popularity.Conclusions: Overall knowledge on headache disorders amongst neurology residents in Denmark do not meet the expectations set out by national and international recommendations. Stakeholders should make strategic initiatives for structured education in headache for improved clinical outcomes in parallel with costs reduction through resource optimization.
Alterations in Brain Morphology by MRI in Adults with Neurofibromatosis 1
Authors: Wang Su , Mautner Victor-Felix , Buchert Ralph , Flibotte Stephane , Suppa Per , Friedman Jan M. , Heran Manraj K. S. 
Published: July 2021

Abstract
Objective: Neurofibromatosis 1 (NF1) is a rare autosomal dominant disease that causes the dysregulated growth of Schwann cells. Most studies focused on brain morphology changes in NF1 were small and only included children, making clinical implications unclear. One consistent finding in children with NF1 has been increased corpus callosum area. We aimed to characterize alterations in brain morphology by MRI in adults with neurofibromatosis 1 (NF1). Methods: Planar (2D) MRI measurements of 29 intracranial structures were compared in 389 adults with NF1 and 112 age- and sex-matched unaffected control subjects. The 2D measurements were correlated to volumetric (3D) brain measurements for 99 of the adults with NF1. A subset of adults with NF1 (n = 70) was also assessed for clinical severity of NF1 features and neurological problems and received psychometric testing for attention deficits and IQ. Correlation analyses were performed between principal components of the intracranial measurements and clinical and psychometric features of these patients. Results:Four of nine corpus callosum measurements were significantly greater in adults with NF1 than in sex- and age-matched controls. All seven brainstem measurements were significantly greater in adults with NF1 than in controls. Increased corpus callosum and brainstem 2D morphology were correlated with increased total white matter volume among the NF1 patients. No robust correlations were observed between the 2D size of these structures and clinical or neuropsychometric assessments.Interpretation:Our findings are consistent with the hypothesis that dysregulation of brain myelin production is an important manifestation of NF1 in adults.