bluuebunny/crossref_metadata_2025_split huggingface dataset:
17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation
Authors: Sahajpal Nikhil Shri , Jeffrey David , DuPont Barbara R. , Hilton Benjamin A. 
Published: February 2023

Abstract
Copy number variants (CNVs) have been identified as common genomic variants that play a significant role in inter-individual variability. The rare recurrent CNVs have been found to be causal for many disorders with well-established genotype-phenotype relationships. However, the phenotypic implications of rare non-recurrent CNVs remain poorly understood. Herein, we re-investigated 18,664 cases reported from chromosomal microarray (CMA) at Greenwood Genetic Center from 2010 to 2022 and identified 15 cases with CNVs involving the 17q25.3 region. We report the detailed clinical features of these subjects, and compare with the cases reported in the literature to determine genotype-phenotype correlation for a subset of genes in this region.The CNVs in the 17q25.3 region were found to be rare events, with a prevalence of 0.0008% (15/18664) observed in our cohort. The CNVs spanned the entire 17q25.3 region with variable breakpoints and no smallest region of overlap. The subjects demonstrated a wide range of clinical features, with neurodevelopmental disorders (ASD, ID, DD) being the most common feature in 80% of cases, expressive language disorder in 33% of cases, followed by cardiovascular malformations in 26% of cases. The association of the critical gene-rich region of 17q25.3 with neurodevelopmental disorders and cardiac malformation, implicates several genes as plausible drivers for these events.
Comparative analysis of genetic diversity in wild and restored subtropical rainforest trees: Argyrodendron trifoliolatum, Ficus watkinsiana and Diploglottis australis
Authors: Cooper Sally L , Bundock Peter C , Nock Catherine 
Published: February 2023

Abstract

Since European settlement of Australia, substantial areas of subtropical rainforest have been cleared. More recently, effort is being made to restore small areas of this biodiverse ecological community. The financial investment and increasing reliance on ecological restoration in biodiversity conservation justifies a need for a better understanding of how to improve success at the genetic level. This research measures the levels of genetic diversity (allelic richness (Rs), expected heterozygosity (He), and inbreeding using Wright’s coefficient (FIS)) for expected neutral DNA markers in three characteristic Australian subtropical rainforest trees – white booyong (Argyrodendron trifoliolatum), Watkin’s fig (Ficus watkinsiana) and native tamarind (Diploglottis australis). Wild and restored populations of these species were sampled and compared in two neighbouring regions in Northeast New South Wales (the Tweed Caldera and the Big Scrub). There were no statistically significant differences in allelic richness or expected heterozygosity between wild and restored populations for any of the target species. Inbreeding was significantly higher in one of the restored versus wild population comparisons: F. watkinsiana in the Tweed (restored F = 0.20; wild F = -0.02; p = 0.01)). Small but statistically significant genetic differentiation between restored and wild populations (FST < 0.17 Big Scrub, FST < 0.053 Tweed) was detected for some of the comparisons between these cohorts. The comparable levels of genetic diversity observed in restored and wild populations targeted in this study are likely due to informed practitioner perspectives and practices, multiple introductions and high genetic diversity and low genetic differentiation within source populations.
Sequencing, cloning and expression of the panfilovirus glycoprotein specific recombinant mAb 8C12F11 in a CHO mammalian cell line
Authors: Plewczynski Dariusz , Vlachakis Dimitrios , Bongcam-Rudloff Erik , Jovelin Fabien , Weyer Jacqueline , Paweska Janusz T , Wayengera Misaki 
Published: February 2023

Abstract
Background
Point-of-care diagnostics are a pivotal component of the medical counter-measures against natural outbreaks or bioterror attacks of Class A pathogens. We previously identified and patented conserved B cells of filovirus glycoproteins for diagnostic, therapeutic and subunit vaccine R & D. In recent in-vitro studies, we validated three mAbs as components of an effective sandwich combo for the capture & detection of zaire ebolavirus (EBOV) species. This work describes the gene sequences and methods for the cloning and expression of a recombinant anti-peptide 2 mAb (8C12F11) in CHO mammalian cells towards faster recombinant in-bulk production in-vitro relative to mice-hybridoma generation in-vivo.
Methods
Mice hybridoma were prepared & cultured on modified dulbecco's eagle’s medium (MDEM) Total RNA was extracted using RNA-easy isolation reagent (Vazyme), and reverse transcribed into cDNA using SMARTScribe reverse transcriptase. Antibody fragments of heavy (H) and light (L) chains were amplified by rapid amplification of cDNA ends (RACE) and cloned into standard vectors for screening in 5 colonies. Inserts of matching phenotypic colonies were sequenced by Sanger capillary sequencing and aligned by IMGT analysis of VDJ. Isotyping was done by constant region analysis.
Results
Consensus sequences of the coding DNA of the heavy and light chains of an isotype IgG1/kappa recombinant mice mAb (Genbank accession #s OP966766 and OP966767, respectively) are presented. The biophysical profile of the full expressed recombinant mAb demonstrates a single protein of approximately 142 kda under non reducing conditions and tetramer of duplexes of 23ka and 48kda, respectively. The average area under sec-HPLC curve at a wavelength of 280 nm is 2490.55
Conclusions
This work summarizes the first ever gene sequencing, cloning, and expression of the recombinant panfilovirus mAb 8C12F11 in a CHO mammalian cell line
Protective effect of CACNA1A deficiency against seizure in the CACNA1A-CELSR2 digenic knockdown flies
Authors: Liu Chu-Qiao , Lin Yong-Miao , Zhang Xi-Xing , Peng Rong-Chao , Qiao Jing-Da 
Published: February 2023

Abstract

The vast majority of medically intractable epilepsy cases can be traced to polygenic backgrounds, and pathogenic variants contribute to genetic risk in the complex inheritance of this common disorder. We generated monogenic and digenic drosophila models by knock-down of two epilepsy-associated genes, CACNA1A and CELSR2, with impacts on intersynaptic calcium activities. Monogenic knockdown of CACNA1A or CELSR2 could induce seizure-like behavior in flies. Interestingly, seizure behavior tests showed that CACNA1A deficiency could attenuate the seizure-like activities of the CACNA1A-CELSR2 digenic knockdown flies. The protective effect of CACNA1A deficiency was quantitatively fitted with multiple linear regression equation based on the seizure rates. In calcium imaging results, CACNA1A monogenic knockdown flies showed higher frequency of large spikes calcium activity than that of wild-type flies. That would be the neural base of the seizure in CACNA1A deficiency flies. However, the area under curve of calcium activity showed no difference between CACNA1A monogenic knockdown flies and wild-type flies. The calcium imaging results could partially illustrate the mechanism of the protective effect of CACNA1A deficiency. Furthermore, our study could be an ideal strategy to study polygenic effect on epilepsy by using animal model.
A Hebbian Model to Account for Musical Expertise Differences in a Working Memory Task.
Authors: Lörch Lucas , Lemaire Benoît , Portrat Sophie 
Published: February 2023

Abstract

Introduction

The TBRS*C computational model provides a mathematical implementation of the cognitive processes involved in complex span tasks. The logic of the core processes, i.e., encoding, refreshing/time-based decay and chunking, is based on Hebbian learning, synaptic facilitation, and long-term neural plasticity, respectively. The modeling, however, takes place on a cognitive rather than physiological level. Chunking is implemented as a process of searching sequences of memoranda in long-term memory and recoding them as a single unit which increases the efficacy of memory maintenance. Using TBRS*C simulations, the present study investigated how chunking and central working memory processes change with expertise.

Method

Hobby musicians and music students completed a complex span task in which sequences of twelve note symbols were presented for serial recall of pitch. After the presentation of each memorandum, participants performed an unknown, notated melody on an electric piano. To manipulate the potential for chunking, we varied if sequences of memoranda formed meaningful tonal structures (major triads) or arbitrary trichords. Hobby musicians and music students were each split up in a higher-expertise and a lower-expertise group and TBRS*C simulations were performed for each group individually.

Results

In the simulations, higher-expertise hobby musicians encoded memoranda more rapidly, invested less time in chunk search, and recognized chunks with a higher chance than lower-expertise hobby musicians. Parameter estimates for music students showed only marginal expertise differences.

Conclusion

We conclude that expertise in the TBRS model can be conceptualized by a rapid access to long-term memory and by chunking, which leads to an increase in the opportunity and efficacy of refreshing.
Carbon footprint of reinforced concretes columns with and without supplementary cementitious materials
Authors: CORDOBA Gisela , IRASSAR Edgardo Fabián 
Published: February 2023

Abstract

Purpose
The construction sector consumes a large quantity of natural resources and generates a great deal of carbon dioxide emissions and wastes, affecting its sustainability. The replacement of Portland cement for supplementary cementitious materials (SCM) could reduce the environmental impact. This paper examines the carbon footprint of reinforced concrete columns. It focuses on the influence of increasing the steel cross-section and reducing the clinker factor by replacing Portland cement with SCM.
Methods
Eighteen concrete mixtures were selected and classified according to the specified compressive strength at 28 days of curing using binary and ternary blended cements. Columns were designed consisting of such concretes and employing different reinforcing steel cross-sections. The Life Cycle Assessment was conducted on ISO 14040 standard. The embodied carbon dioxide (ECO2) of the reinforced concrete columns was determined.
Results
The results show that the higher the compressive strength of concrete, the lower the carbon footprint of the columns. Concretes with a high volume of SCM replacement and low compressive strength at 28 days do not show the lowest carbon footprint since it requires a greater volume of material to withstand the bearing capacity. It is possible to reduce the volume of materials and reduce the carbon footprint by increasing the steel section of the columns. This reduction is smaller the higher the compressive strength of the concrete.
Conclusions
Portland cement is the component material of concrete that contributes the most to ECO2 and steel has the highest ECO2/ton. Replacing Portland cement with SCM reduces ECO2 at one point of the life cycle, and may increase the material volume and ECO2 at another. The lowest carbon footprint of compressed reinforced concrete elements is achieved for the higher-strength concretes and the minimum volume of materials required.
Vergleichende Evaluation von Explorationsarten in interaktiven 3D-360°-Anwendungen
Authors: Funk Johannes , Schmidt Ludger 
Published: February 2023

Die vorliegende Studie vergleicht drei Arten des explorativen Lernens mit interaktiven 3D-360°-Anwendungen. Als Szenarien für die Anwendung werden simulierte Vor-Ort-Termine von Handwerkern beim Kunden verwendet. In den Handwerksszenarien «Maler», «Elektriker» und «Klempner» sollen handwerksübliche Arbeitsaufgaben zur Vorbereitung auf reale Vor-Ort-Termine mit verschiedenen Explorationsarten durchgeführt werden. In Art A werden Arbeitsabläufe von einer Fachperson im Video durchgeführt und vom Nutzer beobachtet. In Art B werden arbeitsaufgabenrelevante Stellen in der gezeigten Umgebung durch «!»-Symbole markiert. In Art C werden keine Markierungen eingesetzt, relevante Stellen müssen vom Nutzer entdeckt werden. Die Studie mit 30 Teilnehmern im Within-Subject-Design prüft unter anderem die Hypothesen, ob sich die Explorationsart auf die Gebrauchstauglichkeit (SUS), das Benutzungserlebnis (UEQ) und die eingenommene Rolle der nutzenden Person (aktiv/passiv) auswirkt. Bei allen Explorationsarten liegt eine vergleichbar hohe Gebrauchstauglichkeit vor. Das Benutzungserlebnis ist sowohl in Art B als auch in Art C signifikant höher als in Art A. In Art C wird die eigene Nutzerrolle aktiver eingeschätzt als in Art A und B. Art B ist wiederum aktiver als Art A. Das bessere Benutzungserlebnis und die aktivere Rolle der nutzenden Person bei gleichbleibend hoher Gebrauchstauglichkeit machen die Explorationsarten B (markierte Stellen) und C (unmarkierte Umgebung) interessant für die Wissensvermittlung von praktischen Inhalten.
Response characteristics of soil moisture to rainfall for a single grass type in an urban area
Authors: Huang Jinbai , Wen Jiawei , Luo Diwen , Zhu Chaofan 
Published: February 2023

Abstract
Urbanization significantly impacts hydrological processes and the water environment in the urban area. Studies on soil moisture are necessary to explore the hydrological characteristics against the background of urbanization. A regional grassland with Bermudagrass in Yangzhou City, China, was adopted as the study area. An analysis of its response characteristics to rainfall infiltration was carried out for different rainfall events. The Penman–Monteith equation was used to estimate the hourly evapotranspiration (ET) of the soil layers at depths of 0–30 cm and 0–10 cm. The results indicate that the response time of the soil water content in the root layer (0–10 cm) decreases with the decrease of the soil water content in the topsoil. The rate of the increase of the soil water content increases as the rainfall intensity increases in the state of unsaturation. The soil water in the root layer provided more than 70% of the total ET. The Nash efficiency coefficient of the simulation results of the soil water content at different depths obtained using the Hydrus-1D model was more than 0.75. The rationality of the results for the different rainfall events and the infiltration depth were verified via numerical simulations using the Hydrus-1D model.
Linking poverty with water and sanitation in targeting households for achieving sustainable development
Authors: Celeste Novlloyd E. 
Published: February 2023

AbstractThe study determined the association of access to safe water and the type of toilet facilities versus household characteristics in the Philippines. Data from the Department of Science and Technology Food and Nutrition Research Institute consisting of 39,771 respondents were included in the analysis. Cramer's V was used as a statistical tool to determine the association of toilet facility versus the access to safe water, water source, and whether the toilet is shared or not. Additionally, multinomial logistic regression was used to predict the type of toilet facility with other household characteristics. Meanwhile, a Classification and Regression Tree was used to classify the type of toilet facilities based on access to safe water, water sources and a wealth quintile. Statistically, the result showed that there is a high association among the variables mentioned. The study concludes that access to sanitation such as the type of toilet facility per household, is highly associated with water sources and access to safe water. Furthermore, there is a need to provide means of access to sanitation among the poorest households. To reduce the inequalities in these services, the decision rule presented in this study can be a guiding principle in providing such intervention.
Deep learning algorithms were used to generate photovoltaic renewable energy in saline water analysis via an oxidation process
Authors: Anupong Wongchai , Mehbodniya Abolfazl , L. Webber Julian , Bostani Ali , Dhiman Gaurav , Singh Bharat , A. R. Murali Dharan 
Published: February 2023

Abstract
The amount of particles and organic matter in wash-waters and effluent from the processing of fruits and vegetables determines whether they need to be treated to fulfil regulatory standards for their intended use. This research proposes a novel technique in photovoltaic cell-based renewable energy in saline water analysis using the oxidation process and deep learning techniques. Here, the saline water oxidation is carried out based on photovoltaic cell-based renewable and saline water analysis is carried out using Markov fuzzy-based Q-radial function neural networks (MFQRFNN). The plan is entirely web-oriented to enable better control and effective monitoring of water consumption. This monitoring makes use of a communication system that collects data in the form of irregularly spaced time series. Experimental analysis has been carried out based on water salinity data in terms of accuracy, precision, recall, specificity, computational cost, and kappa coefficient.
Health-Related Quality of Life and Associated Factors Among Patients
With Knee Osteoarthritis
Authors: Tekaya Aicha Ben , Bouzid Syrine , Kharrat Lobna , Rouached Leila , Galelou Jihene , Bouden Selma , Tekaya Rawdha , Saidane Olfa , Mahmoud Ines , Abdelmoula Leila 
Published: February 2023

Background:
Knee osteoarthritis, a chronic degenerative disease, is becoming a public health problem around the world due to increasing life expectancy.

Objectives:
We aimed to assess the impact of knee osteoarthritis on the quality of life (QoL) of the patients and to identify factors associated with impaired QoL.

Materials and Methods:
We conducted a cross-sectional monocentric study including patients with knee osteoarthritis. The pain was evaluated by the Visual Analog Scale (VAS). The short form of the Knee injury and Osteoarthritis Outcome Score (KOOS-PS) was used to assess functional im-pact. QoL was assessed using the OsteoArthritis of Knee Hip Quality Of Life (OAKHQOL) ques-tionnaire.

Results:
Fifty patients were included. The mean age of patients was 59 ± 9 years. The sex ratio was 0.25. At least one comorbidity was noted in 77% of patients. The mean disease duration was 8.82 years. Mean VAS pain and KOOS-PS were 6.8 ± 1.1 and 54.7 ± 9.6/100; respectively. Assessment of the QoL by OAKHQOL showed impaired QoL in all domains; the worst scores concerned the areas of social functioning and pain. Factors associated with an altered QoL were age > 65 years, longer disease duration, higher pain intensity, comorbidities, and functional impairment.

Conclusion:
Our patients showed an impaired QoL in all domains, particularly in terms of physical activity and social functioning. Lower QoL scores were associated with age, comorbidities, pain, function, and disease duration. Factors associated with QoL should be considered in the manage-ment program of these patients. Screening and the treatment of comorbidities are also useful for the management of knee OA.
Estimating the Burden of Disability From Road Traffic Injuries in 5 Low- and Middle-Income Countries: Protocol for a Prospective Observational Study
Authors: Khalaf Mohammad K , Rosen Heather E , Mitra Sudeshna , Neki Kazuyuki , Mbugua Leah Watetu , Hyder Adnan A , Paichadze Nino 
Published: February 2023

Background
Road traffic injuries (RTIs) are a leading cause of death and unintentional injuries globally. They claim 1.35 million lives and produce up to 50 million injuries each year, causing a major drain on health systems. Despite this high burden, there is a lack of robust data on the long-term consequences of RTIs, specifically the level of disability experienced by many survivors and its impact on their everyday lives.

Objective
This study aims to characterize RTIs, disability level, and related consequences affecting adult road traffic crash survivors in 5 low- and middle-income countries (LMICs). In addition, this study estimates the role of demographic and crash- and treatment-related factors in predicting adverse outcomes and disability as well as examining the disability level among patients with RTIs, likelihood of return to normal life, and the environmental factors that may influence these outcomes after discharge from the hospital.

Methods
This prospective observational study was conducted at selected hospitals in Bangladesh, Cambodia, Ethiopia, Mexico, and Zambia. The study sample included all adult patients with RTIs admitted to the hospital for at least 24 hours. Consecutive sampling was performed until the minimum required sample size of 400 was reached for each participating country. Data were collected from patients or their caregivers using a hospital-based surveillance tool administered at the participating sites as well as a telephone-based follow-up instrument administered 1, 3, and 6 months after discharge. Descriptive analysis and multivariate models will be used to estimate the contribution of a range of factors in predicting adverse outcomes, disability, and return to normal life.

Results
Enrollment began in June 2021 and was completed in April 2022. Follow-up data collection ended in September 2022. Data analysis is currently underway, with results expected for publication in mid-2023. Expected results include estimates of disability among patients with RTIs as well as identifying the predictors of adverse outcomes, disability, and the likelihood of return to normal life.

Conclusions
Research findings will help better understand the long-term burden of disability from RTIs in the 5 LMICs and the challenges facing survivors of road traffic crashes. They will be used to inform interventions aimed at improving the health care, social, physical, and policy conditions in LMICs that can facilitate recovery and rehabilitation for patients with RTIs, reduce the burden of disability, and enhance their participation in society.

International Registered Report Identifier (IRRID)
DERR1-10.2196/40985