bluuebunny/crossref_metadata_2025_split huggingface dataset:
Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2
Authors: Li Liangshan , Ma Jianhua , Wang Jingli , Dong Liping , Liu Shiguo 
Published: September 2022

Abstract
Background
As a rare mitochondrial disease, combined oxidative phosphorylation deficiency 14 (COXPD14) is caused by biallelic variants in the phenylalanyl-tRNA synthetase 2, mitochondrial gene (FARS2) with clinical features of developmental delay, an elevated lactate level, early-onset encephalopathy, liver failure, and hypotonia. The objectives of this study were to analyze the clinical and molecular features of two Chinese siblings affected with COXPD14, and to review relevant literature.

Methods
Mutation screening was performed by whole exome sequencing (WES) in combination with Sanger sequencing validation to identify the disease-causing variants of the two patients.

Results
The two siblings presented with severe clinical features and both progressed aggressively and failed to survive after treatment abandonment. We identified two compound heterozygous FARS2 variants c.925G>A p.Gly309Ser and c.943G>C p.Gly315Arg in this proband, which were inherited from the unaffected father and mother, respectively. In addition, Sanger sequencing confirmed that the elder affected sister carried the same compound heterozygous variants. The c.925G>A p.Gly309Ser variant is known and commonly reported in COXPD14 patients, while c.943G>C p.Gly315Arg is a novel one. Neither of the variants was found in 100 Chinese healthy controls. Both variants were classified as “deleterious” and were located in the highly conserved regions of the protein. The above results suggested that the two variants were likely causative in this COXPD14-affected pedigree.

Conclusions
Our study expands the mutation spectrum of FARS2 and highlights the importance of genetic testing in the diagnosis of diseases with a wide variety of phenotypes, especially in the differential diagnosis of diseases.
A Review on Sustainable Fabrication of Futuristic Cementitious Binders Based on Application of Waste Concrete Powder, Steel Slags, and Coal Bottom Ash
Authors: Vashistha Prabhat , Park Sungwoo , Pyo Sukhoon 
Published: September 2022

AbstractThe amendment of cementitious binders with waste materials aids as a path to reduce the volume of waste and carbon emission. This review summarizes the current state of practice for cementitious binder fabrication in favor to the utilization of waste materials such as waste concrete powder (WCP), coal bottom ash (CBA) and steel slags. These materials have the potential to be employed as cementitious material, however much of the application is still up to the laboratory scale. This manuscript will serve as the support to understand the utilization of mentioned waste as nontraditional cementitious products. The highlighted areas likely need more refinement and research with indication on possible negative impact on application of wastes. The use of the aforementioned wastes for blending with OPC (ordinary Portland cement) can reduce carbon emissions from cement manufacturing. Additionally, it can also reduce the use of natural resources during clinker production.
Authorship and topic trends in STEM education research
Authors: Li Yeping , Xiao Yu 
Published: September 2022

AbstractIn this study, we reviewed publications in the International Journal of STEM Education from 2014 to 2021 to gain a glimpse of STEM education research trends in terms of authorship and topics. We analyzed publication quantities and types, authors’ profession, research topics and school levels, and the top 10 most-cited publications over the years. The results provide some encouraging indications of the expanded engagement and dynamic development in publication authorship and topics in STEM education research worldwide.
Does supplier concentration matter to investors during the COVID-19 crisis: evidence from China?
Authors: Cheng Louis T. W. , Poon Jack S. C. , Tang Shaolong , Wang Jacqueline Wenjie 
Published: September 2022

AbstractThe literature shows that investor attention to customer–supplier disclosure increases when suppliers’ information arrival is anticipated. Due to the widespread of city lockdowns in China and the implementation of social distancing to control the COVID-19 pandemic, investor attention to potential disruption of the supply chain spikes, leading to a price devaluation for firms with high supplier concentration risk. We find that a higher degree of supplier concentration is related to more serious stock price declines over the short-term and medium-term windows right after the Wuhan lockdown. This result lends support to the argument that the concentration risk of suppliers is a significant consideration for China stock market investors, especially under the potential financial distress at the firm level induced by the COVID-19 crisis.
Targeting the MALAT1 gene with the CRISPR/Cas9 technique in prostate cancer
Authors: Ahmadi-Balootaki Soraya , Doosti Abbas , Jafarinia Mojtaba , Goodarzi Hamed Reza 
Published: September 2022

AbstractBackgroundThe MALAT1 lncRNA acts as an oncogene in Prostate cancer (PC); thus, it can be severe as a cancer biomarker.MethodsUsing bioinformatics datasets including (HTSeq-Counts, GDC, and TCGA) 5501 gene expression profiling specimens were gathered. Then, expression profiles and sample survival of lncRNA were investigated using COX regression analyses, ROC curve analysis. The Database for Annotation, Visualization, and Integrated Discovery was used to conduct GO and KEGG studies on the lncRNA-related PCGs. After MALAT1 Knockout via CRISPR/Cas9 technique, the MALAT1 expression was assessed in DU-145 cells. The deletion of the target fragment was examined by polymerase chain reaction (PCR). Also, the expression of apoptosis genes was investigated by qRT-PCR. The viability and cell proliferation were measured using the MTT assay. Cell migration capability was determined using the cell scratch assay. The results of qRT-PCR were assessed by the ΔΔCt method, and finally, statistical analysis was performed in SPSS software.ResultsA maximum of 451 lncRNAs were discovered to reflect different expressions between PC and non-carcinoma tissue samples, with 307 being upregulated and 144 being down-regulated. Thirty-six lncRNAs related to OS were carefully selected, which were then subjected to stepwise multivariate Cox regression analysis, with 2 lncRNAs (MALAT1, HOXB-AS3). MALAT1 is highly expressed in PC cells. MALAT1 Knockout in DU-145 cells increases apoptosis and prevents proliferation and migration, and DU-145 transfected cells were unable to migrate based on the scratch recovery test. Overall, data suggest that MALAT1 overexpression in PC helps metastasis and tumorigenesis. Also, MALAT1 knockout can be considered a therapeutic and diagnostic target in PC.ConclusionTargeting MALAT1 by CRISPR/Cas9 technique inhibit the cell proliferation and migration, and in addition induce apoptosis. Thus, MALAT1 can act as a tumor biomarker and therapeutic target.
Multi-GNSS products and services at iGMAS Wuhan Innovation Application Center: strategy and evaluation
Authors: Li Xingxing , Wang Qingyun , Wu Jiaqi , Yuan Yongqiang , Xiong Yun , Gong Xuewen , Wu Zhilu 
Published: September 2022

AbstractOver the past years the International Global Navigation Satellite System (GNSS) Monitoring and Assessment System (iGMAS) Wuhan Innovation Application Center (IAC) dedicated to exploring the potential of multi-GNSS signals and providing a set of products and services. This contribution summarizes the strategies, achievements, and innovations of multi-GNSS orbit/clock/bias determination in iGMAS Wuhan IAC. Both the precise products and Real-Time Services (RTS) are evaluated and discussed. The precise orbit and clock products have comparable accuracy with the precise products of the International GNSS Service (IGS) and iGMAS. The multi-frequency code and phase bias products for Global Positioning System (GPS), BeiDou Navigation Satellite System (BDS), Galileo navigation satellite system (Galileo), and GLObal NAvigation Satellite System (GLONASS) are provided to support multi-GNSS and multi-frequency Precise Point Positioning (PPP) Ambiguity Resolution (AR). Compared with dual-frequency PPP AR, the time to first fix of triple-frequency solution is improved by 30%. For RTS, the proposed orbit prediction strategy improves the three dimensional accuracy of predicted orbit by 1 cm. The multi-thread strategy and high-performance matrix library are employed to accelerate the real-time orbit and clock determination. The results with respect to the IGS precise products show the high accuracy of RTS orbits and clocks, 4–9 cm and 0.1–0.2 ns, respectively. Using real-time satellite corrections, real-time PPP solutions achieve satisfactory performance with horizontal and vertical positioning errors within 2 and 4 cm, respectively, and convergence time of 16.97 min.
Secondary Prevention of Cervical Cancer: ASCO Resource–Stratified Guideline Update
Authors: Shastri Surendra S. , Temin Sarah , Almonte Maribel , Basu Partha , Campos Nicole G. , Gravitt Patty E. , Gupta Vandana , Lombe Dorothy C. , Murillo Rául , Nakisige Carolyn , Ogilvie Gina , Pinder Leeya F. , Poli Usha R. , Qiao Youlin , Woo Yin Ling , Jeronimo Jose 
Published: September 2022

PURPOSE To update resource-stratified, evidence-based recommendations on secondary prevention of cervical cancer globally. METHODS American Society of Clinical Oncology convened a multidisciplinary, multinational Expert Panel to produce recommendations reflecting four resource-tiered settings. A review of existing guidelines, formal consensus-based process, and modified ADAPTE process to adapt existing guidelines was conducted. Other experts participated in formal consensus. RESULTS This guideline update reflects changes in evidence since the previous update. Five existing guidelines were identified and reviewed, and adapted recommendations form the evidence base. Cost-effectiveness analyses provided indirect evidence to inform consensus, which resulted in ≥ 75% agreement. RECOMMENDATIONS Human papillomavirus (HPV) DNA testing is recommended in all resource settings; visual inspection with acetic acid may be used in basic settings. Recommended age ranges and frequencies vary by the following setting: maximal: age 25-65 years, every 5 years; enhanced: age 30-65 years, if two consecutive negative tests at 5-year intervals, then every 10 years; limited: age 30-49 years, every 10 years; basic: age 30-49 years, one to three times per lifetime. For basic settings, visual assessment is used to determine treatment eligibility; in other settings, genotyping with cytology or cytology alone is used to determine treatment. For basic settings, treatment is recommended if abnormal triage results are obtained; in other settings, abnormal triage results followed by colposcopy is recommended. For basic settings, treatment options are thermal ablation or loop electrosurgical excision procedure; for other settings, loop electrosurgical excision procedure or ablation is recommended; with a 12-month follow-up in all settings. Women who are HIV-positive should be screened with HPV testing after diagnosis, twice as many times per lifetime as the general population. Screening is recommended at 6 weeks postpartum in basic settings; in other settings, screening is recommended at 6 months. In basic settings without mass screening, infrastructure for HPV testing, diagnosis, and treatment should be developed. Additional information is available at www.asco.org/resource-stratified-guidelines .
Symbiosis induces unique volatile profiles in the model cnidarian Aiptasia
Authors: Wuerz Maggie , Lawson Caitlin A. , Ueland Maiken , Oakley Clinton A. , Grossman Arthur R. , Weis Virginia M. , Suggett David J. , Davy Simon K. 
Published: September 2022

ABSTRACT
The establishment and maintenance of the symbiosis between a cnidarian host and its dinoflagellate symbionts is central to the success of coral reefs. To explore the metabolite production underlying this symbiosis, we focused on a group of low molecular weight secondary metabolites, biogenic volatile organic compounds (BVOCs). BVOCs are released from an organism or environment, and can be collected in the gas phase, allowing non-invasive analysis of an organism's metabolism (i.e. ‘volatilomics’). We characterised volatile profiles of the sea anemone Aiptasia (Exaiptasia diaphana), a model system for cnidarian–dinoflagellate symbiosis, using comprehensive two-dimensional gas chromatography coupled with time-of-flight mass spectrometry. We compared volatile profiles between: (1) symbiotic anemones containing their native symbiont, Breviolum minutum; (2) aposymbiotic anemones; and (3) cultured isolates of B. minutum. Overall, 152 BVOCs were detected, and classified into 14 groups based on their chemical structure, the most numerous groups being alkanes and aromatic compounds. A total of 53 BVOCs were differentially abundant between aposymbiotic anemones and B. minutum cultures; 13 between aposymbiotic and symbiotic anemones; and 60 between symbiotic anemones and cultures of B. minutum. More BVOCs were differentially abundant between cultured and symbiotic dinoflagellates than between aposymbiotic and symbiotic anemones, suggesting that symbiosis may modify symbiont physiology more than host physiology. This is the first volatilome analysis of the Aiptasia model system and provides a foundation from which to explore how BVOC production is perturbed under environmental stress, and ultimately the role they play in this important symbiosis.
Effects of 12 Wk of Omega-3 Fatty Acid Supplementation in Long-Distance Runners
Authors: TOMCZYK MAJA , JOST ZBIGNIEW , CHROBOCZEK MACIEJ , URBAŃSKI ROBERT , CALDER PHILIP C. , FISK HELENA L. , SPRENGEL MATEUSZ , ANTOSIEWICZ JĘDRZEJ 
Published: September 2022

ABSTRACT

Purpose
This study aimed to investigate the effects of 12 wk of omega-3 fatty acid supplementation during endurance training on omega-3 index (O3I) and indicators of running performance in amateur long-distance runners.

Methods
Twenty-six amateur male long-distance runners ≥29 yr old supplemented omega-3 fatty acid capsules (OMEGA group, n = 14; 2234 mg of eicosapentaenoic acid and 916 mg of docosahexaenoic acid daily) or medium-chain triglycerides capsules as placebo (medium-chain triglyceride [MCT] group, n = 12; 4000 mg of MCT daily) during 12 wk of endurance training. Before and after intervention, blood samples were collected for O3I assessment, and an incremental test to exhaustion and a 1500-m run trial were performed.

Results
O3I was significantly increased in the OMEGA group (from 5.8% to 11.6%, P < 0.0001). A significant increase in V̇O2peak was observed in the OMEGA group (from 53.6 ± 4.4 to 56.0 ± 3.7 mL·kg−1⋅min−1, P = 0.0219) without such change in MCT group (from 54.7 ± 6.8 to 56.4 ± 5.9 mL·kg−1⋅min−1, P = 0.1308). A positive correlation between the change in O3I and the change in running economy was observed when data of participants from both groups were combined (−0.1808 ± 1.917, P = 0.0020), without such an effect in OMEGA group alone (P = 0.1741). No effect of omega-3 supplementation on 1500-m run results was observed.

Conclusions
Twelve weeks of omega-3 fatty acid supplementation at a dose of 2234 mg of eicosapentaenoic acid and 916 mg of docosahexaenoic acid daily during endurance training resulted in the improvement of O3I and running economy and increased V̇O2peak without improvement in the 1500-m run trial time in amateur runners.
DEVELOPMENT OF AUTOMATIC EYE DETECTION MODULE FOR USE IN AUTOMATED SYSTEM OF TELEMEDICAL CONSULTATIONS
Authors: Burdukowsky Stanislav O. 
Published: September 2022

This work is devoted to development of automatic eye detection module. This is a part of a scientific study devoted to development of automatic strabismus detection information system, which will be applied in automated system of telemedical consultations. Telemedicine has great potential to reduce the growing demand for the diagnosis of ophthalmic diseases and is an effective method for timely detection of strabismus. The following tasks were solved to achieve the goal: training of eye detection model, development of an application programming interface for interacting with detection model, development of web interfaces for patient and administrator. The trained model can be used in various information systems that require eye detection functionality. Also, results can be applied to various studies that use the TensorFlow platform to detect single class objects. Presented architecture of interaction between detection model, application programming interface and web interfaces can be used in design and development of complex systems that include user interfaces and server-side computing.
Purpose. Development of automatic module for eye detection in human face photo aimed at use in automated system of telemedical consultations.
Methodology: programming and machine learning methods were used in the article.
Results: automatic eye detection module for use in automated system of telemedical consultations was developed.
Practical implications it is expedient to apply the received results for organization of automated telemedicine services and implementation in the developed information systems using telemedicine technologies.
Clemson University’s Rotational Attendance Plan During COVID-19
Authors: Gore Amy B. , Kurz Mary E. , Saltzman Matthew J. , Splitter Blake , Bridges William C. , Calkin Neil J. 
Published: September 2022

The COVID-19 pandemic forced universities to upend their class scheduling. At Clemson University, the administration implemented hybrid schedules for fall 2020, in which students attend classes partly online and partly in person. To limit exposures of COVID-19 in the classroom, we propose two rotational attendance models (the three-cohort model and the once-a-week model) that aim to allow in-person classroom time and minimize exposure between students. In a baseline strategy, students would interact with an average of 84 students per week and attend class in person 2.6 days a week. By contrast, the three-cohort model and once-a-week model achieve about 57 and 83 student interactions per week and 1.6 and 1.9 in-person student attendance days a week, respectively. Although these figures of merit may imply that the three-cohort model is preferable, it achieves its results by forcing about 1,600 of the 21,000 students who want to attend courses in person to participate online instead and forcing courses that meet twice a week to be attended twice in a three-week rotation. Considering the tradeoffs between the figures of merit related to student interaction and anticipated implementation challenges, Clemson University implemented the once-a-week model for fall 2020 and spring 2021. History: This paper was refereed. This article has been selected for inclusion in the Special Issue on Analytics Remedies to COVID-19.
Reuse of expired dairy products and sewage in the production of biogas by anaerobic digestion
Authors: Marin Danieli Fernanda Canaver , Mendoza Lívia Mendes , Carvalho Júnior Romário Pereira de , Maintinguer Sandra Imaculada 
Published: September 2022

Dairy industry is a prominent sector of the agro-industry with global production of 906 million tonnes of milk. Several dairy products are wasted due their high perishability. Anaerobic digestion is a sustainable alternative for reducing this waste aiming biogas production. This study evaluated the co-digestion of expired dairy products (EDP) with synthetic sewage from two assays using two types of dairy waste, separately: Assay I (EDP mixture of 80% of milk + 15% of yogurt + 5% of milk cream) and Assay II (industrial raw mixture of EDP). Both assays were composed of 20 g COD L-1 (Chemical Oxygen Demand per Liter) using anaerobic batch reactors (1.0 L) assembled in duplicates with 0.5 L headspace (N2) and working volume of 0.5 L with initial pH 8.2, at 37 °C, in a static mode. The cumulative CH4 productions were 2722.5 NmL in 31 days of operation (Assay I) and 3140.0 NmL in 25 days of operation (Assay II). Equivalent CH4 yields were obtained for the both assays with ~330 NmLCH4 g CODrem-1. Carbohydrates and COD removals were 96.8% and 98.0%; 87.3% and 89.4%, respectively. The co-digestion of EDP with sewage was effective to CH4 production with efficient organic matter removal. These results encourage new strategies for reuse of expired dairy products by the use of anaerobic digestion.
Assessing Alignment Between Intellectual and Developmental Disability Service Providers and Trauma-Informed Care: An Exploratory Study
Authors: Presnell Jade , Keesler John M. , Thomas-Giyer Jen 
Published: September 2022

AbstractPeople with intellectual and developmental disabilities (IDD) are disproportionately impacted by potentially traumatic experiences; however, organizations serving this population have lagged in their integration of trauma-informed care (TIC). Trauma-informed care is a systemwide response to the pervasiveness of trauma that frequently requires an organizational shift rooted in staff training. Using an online statewide survey, the present study examined beliefs and training among IDD service providers. Responses from 288 service providers suggested some alignment among beliefs and staff training content with TIC principles. Although the findings indicate a foundation for TIC, intentional efforts are needed for IDD agencies to fully embrace TIC.
Parental Perceptions of Service Access for Transition-Aged Youth With Autism During COVID-19
Authors: Burke Meghan M. , Cheung W. Catherine , Li Chak , DaWalt Leann , Segal Jordan , Taylor Julie Lounds 
Published: September 2022

Abstract
Services are critical for youth with autism spectrum disorder (ASD), especially during the transition to adulthood. Under the best of circumstances, though, it can be difficult to access needed adult services. With COVID-19, services were more difficult to obtain and retain. In this study, we explored parent perceptions of accessing new services and maintaining current services during the first year of the COVID-19 pandemic. Structured interviews were conducted with 65 parents of transition-aged youth (aged 16–26) with ASD living in three states (IL, TN, and WI) in the United States. None of the participants reported receiving new services during the pandemic, and many struggled to access services via online applications. In addition, participants reported that service suspensions and changes in modality (e.g., from in-person to telehealth) were spearheaded by professionals and not families. Participants, especially those in TN, were more likely to pay out-of-pocket for services during the COVID-19 pandemic to compensate for service disruptions. Implications for research and practice are discussed.