bluuebunny/crossref_metadata_2025_split huggingface dataset:
Application of Optical Genome Mapping in Complex Structural Chromosomal Rearrangements
Authors: Li Tao , Liu Shanquan , Lai Yi 
Published: December 2023

Abstract

Objective: The aim of this study was to assess the applicability of optical genome mapping in chromosomal karyotype analysis. Optical genome mapping validation was conducted on three patients with complex structural hromosomal rearrangements previously identified through chromosomal G-banding karyotype analysis. The primary objective was to elucidate the breakpoints and patterns of chromosomal recombination.
Methods: A comprehensive analysis and validation were conducted on three patients utilizing various techniques, including chromosome G-banding karyotype Chromosome Microarray Analysis, and optical genome mapping.
Results: Combining with the results of optical genome mapping and G-banding karyotype, all three patients exhibited CCRs, with the following karyotype descriptions:
Patient 1: 46,XX,der(9)ins(9)(q34.3q21.1q21.1)inv(9)(q21.1q21.3);
Patient 2: 46,XY,inv(2)(p23q33),t(3;7)(q26.1;q35)inv(7)(q31.2q35);
Patient 3: 46,XY,t(1;4;11)(p21.3;q23;q25)inv(11)(p12q14.3)inv(11)(q14.3 q25).
Conclusion: Optical genome mapping (OGM) demonstrated superior resolution and sensitivity compared to traditional methods like G-banding karyotype. OGM proved valuable for validating the results obtained from karyotyping analysis, enhancing diagnostic accuracy.
Upregulation of GAT1 expression as a mechanism for cognitive improvement after mGluR5 activation in traumatic brain injury
Authors: Xu Peng , Zhao Xin , Wang Bin , Wang Handong 
Published: December 2023

Abstract
Traumatic brain injury (TBI) significantly contributes mortality and disability worldwidely. However, cognitive deficits often accompany post-TBI neurological impairments. The metabotropic glutamate receptor 5 (mGluR5) is known to play a crucial role in cognitive-related disorders. Nevertheless, the specific impact of mGluR5 on cognitive impairment following TBI remains uncertain. In this study, we discovered that activating mGluR5 effectively mitigated cognitive impairment induced by Marmarou's weight-drop model of TBI and reduced the elevated levels of GABA content after TBI. Additionally, it was found that the activation of mGluR5 resulted in an upregulation of GABA transporter 1 (GAT1) expression, which had been downregulated after TBI in the brains of mice. Conversely, the inhibition of mGluR5 led to an upregulation of GAT1. And inhibiting GAT1 decreased the improvement of cognition after mGluR5 activation in Y-maze. Mechanistically, the activation of mGluR5 was found to decrease the level of RAB11A and upregulate the expression of p-ERK, CREB, and p-CREB after TBI. However, the inhibition of CREB reversed the decreased expression of RAB11A and the elevated expression of CREB, p-CREB, and GAT1. In summary, our research findings have shed light on the upregulation of active mGluR5 and its subsequent impact on GAT1 expression, resulting in a reduction of GABA levels and an improvement in cognitive impairment following TBI. Furthermore, we have identified the ERK/CREB/RAB11A pathway as a regulator of GAT1. These findings suggest that targeting mGluR5 may hold promise as a potential therapeutic strategy for enhancing cognition in individuals with TBI.
Twin support vector machine with two margin hyperplanes and weighted linear loss
Authors: Gong Rongfen , Chu Maoxiang , Liu Ling , Liu Liming 
Published: December 2023

Abstract
In this paper, we formulate a classification model based on twin support vector machine (TSVM), called twin margin distribution machine with equality constraints (ETMDM). The ETMDM determine two margin hyperplanes by solving two linear equations. The margin hyperplanes are used to replace the boundary hyperplanes in TSVM, resulting in the elimination of inequality constraints. Moreover, the margin hyperplanes investigate the margin distribution information of all samples by the margin mean and margin variance in large margin distribution machine (LDM). And the margin mean and margin variance are reconstructed by weighted linear loss and optimization scheme. The reconstructed margin distribution information can avoid suffering from the possible negative infinity problem and improve the computational efficiency. The experimental results on different types of datasets indicate that our ETMDM has excellent classification accuracy but with less computational time.
Disentangling the relationship of aboveground biomass, structure and tree diversity in a mixed Acacia plantation in Northern Vietnam
Authors: Doan Thi Nhat Minh , Manh Vu Van , Ruano Irene , Bravo Felipe 
Published: December 2023

Abstract

A diversification strategy of introducing two or more species is becoming increasingly prevalent in forest plantations previously dominated by single-species compositions. Improving productivity and enhancing other ecosystem services are the main reasons for this conversion. While mixing effects in temperate forests and plantations are well supported by empirical data, such information is scarce for tropical forest plantations. We analyzed the quantitative aboveground biomass - structure - tree diversity relationship in a tropical mixed-forest plantation in Northern Vietnam to gain insight into ecosystem service provision trade-offs. The study site was located in an abandoned Acacia mangium and Acacia auriculiformis (established in 2012) plantation in Northern Vietnam. A one-hectare permanent plot was installed in which all trees were identified individually by species, measured (diameter and height), and georeferenced. The descriptive analysis found that the study area contains 110.66 tons/ha of biomass in the aboveground tree compartments. The structural and species diversity analysis indicated high richness and high evenness compared to other forest plantations in the study area. A set of models was fitted and ranked to determine the relationship between aboveground biomass and structural and specific diversity. The results indicate that the Shannon index and height differentiation index were significant for both species while basal area was only significant for the Acacia mangium model. According to the model sensitivity analysis, aboveground biomass – and therefore carbon concentration – decrease as species diversity increases.
Gram-Negative Bacteria in Some Clinical Specimens and their Antibiotics Resistance Profiles, Sana’a, Yemen
Authors: Al-Ofairi Bashir Ahmed , Edrees Wadhah Hassan , Al-Jendy Ahmed Salem , Alrahabi Lutf Mohammed , Obad Khadija Naji 
Published: December 2023

Abstract

Background and Objective: Gram-negative bacteria (GNB) have emerged globally as significant public health problems owing to their high resistance to antibiotics, particularly in developing countries such as Yemen. Therefore, this study aimed to determine the antibiotic resistance profile of GNB isolated from clinical samples in Sana’a City, Yemen.
Methods: A total of 420 clinical samples, including vaginal swabs, urine, and pus, were collected from patients who attended some hospitals in Sana’a City, Yemen, in 2018. The collected specimens were examined according to standard microbiological methods, and the isolated bacteria were tested against some antibacterial agents using the Kirby-Bauer disc diffusion method on Mueller-Hinton agar.
Results: Among 420 specimens, the prevalence of gram-negative bacteria infections was 49.76%. A high rate of GNB was reported among the age group of 41–50 years old (57.97%), female patients (52.19%), those who came from rural areas (60.0%), and those who were uneducated (86.56%). The vaginal specimens exhibited a higher prevalence of bacterial bacteria (60.42%), followed by urine (51.28%) and pus (35.0%). Escherichia coli accounted for the greatest proportion of bacteria recovered from the study's patients (36.62%),followed by Klebsiellapneumoniae (18.66%), Enterobacter sp. (12.32%), Acinetobacter sp. (10.92%), Pseudomonas aeruginosa (9.15%), Citrobacter sp. (6.34%), and Proteus mirabilis (5.99%). E. coliwas highly resistant to imipenem and enrofloxacin. Similarly, K. pneumoniaeand P. aeruginosa were highly resistant to imipenem and norfloxacin. About 62.86% of Enterobacter sp. isolates were resistant to imipenem. In addition, 83.33–78.97% of Acinetobacter sp. isolates were resistant to imipenem and meropenem. Citrobacter sp. had high resistance to norfloxacin. Additionally, over 50% of P. mirabilis isolates were resistant to ofloxacin, norfloxacin, cefuroxime, and ceftizoxime.
Conclusion: The conclusion is that there exists a significant proportion of GNB prevalence and antibacterial resistance among the study subjects. Therefore, multisectoral approach is needed for implementing effective strategies to reduce the transmission of antibiotic-resistant bacteria among the community.
Rewiring care delivery through Digital Therapeutics (DTx): a Machine Learning-Enhanced Assessment and Development (M-LEAD) framework
Authors: Carrera Alessandro , Manetti Stefania , Lettieri Emanuele 
Published: December 2023

Abstract
Background
Digital transformation has sparked profound change in the healthcare sector through the development of innovative digital technologies. Particular attention should be devoted to Digital Therapeutics, which offers an innovative approach to disease management and treatment. The result is a landscape in which care delivery is increasingly patient-centered, data-driven, and based on real-time information. These technological innovations can lead to better patient outcomes and support for healthcare professionals. Digital transformation can, moreover, support healthcare systems by offering powerful tools to cope with the ever-increasing demand for care in an environment with limited resources. As these digital technologies continue to evolve, the healthcare field must be ready to integrate them into processes to take advantage of their benefits. This study aims to develop a framework for the development and assessment of Digital Therapeutics.
Methods
The study was conducted relying on a mixed methodology. 338 studies about Digital Therapeutics resulting from a systematic literature review were analyzed using descriptive statistics through RStudio. The software allowed studies to be described according to 33 variables. Three machine learning algorithms (K-NN, decision trees, random forests) were applied to analyze variables and find patterns in the data. The results of these analytical analyses were summarized in a framework qualitatively tested and validated through expert opinion elicitation in the form of semi-structured interviews and focus groups.
Results
The research provides M-LEAD, a Machine Learning-Enhanced Assessment and Development framework that recommends best practices for developing and assessing Digital Therapeutics. The framework takes as input Digital Therapeutics characteristics, regulatory aspects, study purpose, and assessment domains. The framework produces as outputs recommendations to design the Digital Therapeutics study characteristics, particularly the sources of evidence, study type and randomization, enrolled patients, study duration, comparators and arms, and outcomes.
Conclusions
The proposed framework seizes an opportunity and contributes to filling a relevant gap in Digital Therapeutics product development and assessment. The framework constitutes the first step toward standardized guidelines for the development and assessment of Digital Therapeutics. The results of this study may support manufacturers and inform decision-makers of the relevant results of the Digital Therapeutics assessment.
miRNAs involved in neuropathic pain can be reliably measured in saliva
Authors: Sampath Kesava Kovanur , Papannarao Jayanthi Bellae , Roberts Etelini , Schwenke Daryl , Katare Rajesh 
Published: December 2023

Abstract

Background: miRNAs have been shown to be dysregulated in Neuropathic pain conditions such as diabetic painful neuropathy (DPN). While invasive techniques such as blood samples are routinely used to collect and analyse miRNAs, the use of non-invasive techniques such as salivary samples for analysing miRNAs involved in neuropathic pain has been minimal. Therefore, the objective of this study was to determine if miRNAs involved in neuropathic pain can be measured reliably in salivary samples comprising of healthy European and Pacific population.
Methods: Participants were recruited via advertisements on notice boards, social media, word of mouth, and pamphlets. Saliva samples were collected from healthy European and Pacifica Participants. Samples were stored in -80ºC until analysis. Total RNA was extracted using miRNEasy kit (Qiagen) following manufacturer’s protocol and the concentration was measured using Nanodrop (Thermofisher).
Results: A total of 37 healthy participants (19 European and 18 Pacifica; age range: 22-57 years) were included in the study. Results showed that four different miRNAs (miR-16, miR-124, miR-132 and miR-134) that have been demonstrated to be associated with DPN were expressed and reliably measured in all the salivary samples.
Conclusion: all the miRNAs identified in our study have been shown to be involved in neuropathic pain and inflammation. Hence, further research is required in this area to investigate the feasibility of extracting and analysing these miRNAs in people with neuropathic pain.
Detection of Duffy Blood Group Genotypes and Submicroscopic Plasmodium Infections Using Molecular Diagnostic Assays in Febrile Malaria Patients.
Authors: Abagero Beka Raya , Rama Rei , Obeid Abdulghani , Tolossa Tirusew , Legese Fikerte , Lo Eugenia , Yewhalaw Delenasaw 
Published: December 2023

Abstract

Background
Malaria remains a severe parasitic disease, posing a significant threat to public health and hindering economic development in sub-Saharan Africa. Ethiopia, a malaria endemic country, is facing a resurgence of the disease with a steadily rising incidence. Conventional diagnostic methods, such asmicroscopy, have become less effective due to low parasite density, particularly among Duffy-negative human populations in Africa. To develop comprehensive control strategies, it is crucial to generate data on the distribution and clinical occurrence of Plasmodium vivax and P. falciparum infections in regions where the disease is prevalent. This study assessed Plasmodium infections and Duffy antigen genotypes in febrile patients in Ethiopia.
Methods
Three hundred febrile patients visiting four health facilities in Jimma town of southwestern Ethiopia were randomly selected during the malaria transmission season (Apr–Oct). Sociodemographic information was collected, and microscopic examination was performed for all study participants. Plasmodiumspecies and parasitemia as well as the Duffy genotype were assessed by quantitative polymerase chain reaction (qPCR) for all samples. Data were analyzed using Fisher’s exact test and kappa statistics.
Results
The Plasmodium infection rate by qPCR was 16% (48/300) among febrile patients, of which 19 (39.6%) were P. vivax, 25 (52.1%) were P. falciparum, and 4 (8.3%) were mixed (P. vivax and P. falciparum) infections. Among the 48 qPCR-positive samples, 39 (13%) were negative by microscopy. The results of bivariate logistic regression analysis showed that agriculture-related occupation, relapse and recurrence were significantly associated withPlasmodium infection (P<0.001). Of the 300 febrile patients, 85 (28.3%) were Duffy negative, of whom two had P. vivax, six had P. falciparum, and one had mixed infections.Except for one patient with P. falciparum infection, Plasmodium infections in Duffy-negative individuals were all submicroscopic with low parasitemia.
Conclusions
The present study revealed a high prevalence of submicroscopic malaria infections. Plasmodium vivax infections in Duffy-negative individuals were not detected due to low parasitemia. Here, we recommend an improved molecular diagnostic tool to detect and characterize plasmodium infections, with the goal of quantifyingP. vivax infection in Duffy-negative individuals.
Inference of Disease Burden for Chronic Kidney Disease Screening Intervention Based on a Micro-Simulation Model
Authors: Li Yang , ma yu-qin , Liu Pei , Wang Zhong-liang , Xiong Lin-ping 
Published: December 2023

Abstract
Background: Chronic kidney disease (CKD) has a high prevalence, low awareness, poor prognosis, and high medical costs. Therefore, in this study, we aimed to analyze the evolution of CKD burden among different groups at a high-risk of CKD in Shanghai with or without screening intervention and provide a quantifiable basis for the selection of screening intervention strategies for CKD.
Methods: A micro-simulation model was constructed for the evolution of CKD burden using data from CKD screening of the population in the Jing'an and Minhang District of Shanghai, China, from January 2015 to December 2020. SAS statistical software 9.4 was used to simulate and analyze the evolution of disease burden under different screening intervention strategies.
Results: By 2033, screening intervention for high-risk groups with hypertension, diabetes, and age 65 years and above demonstrated a reduction in the number of patients with end-stage renal disease by 6250 individuals. Furthermore, the number of patients with end-stage renal disease was only 41.64% of the number of patients when the screening intervention was not conducted, leading to a general improvement in the quality of the population, better quality-adjusted life-years, and a reduction in the economic burden of disease for the population.
Conclusion: The results of this study highlight the importance of combining the concept of integrated prevention and treatment of chronic diseases to improve screening and intervention of CKD for people with hypertension, diabetes, and age 65 years and above, thereby effectively reducing the number of patients with end-stage disease, lowering the cost of treatment and intervention, and improving the quality of life of the population.
Subpopulation composition of blood T-helpers in hepatitis C patients with genotype 1 or 3
Authors: Tsukanov V. V. , Savchenko A. A. , Cherepnin M. A. , Vasyutin A. V. , Kasparov E. V. , Belenyuk V. D. , Tonkikh Ju. L. , Borisov A. G. 
Published: December 2023

Introduction. Despite advances in treatment, the problem of chronic viral hepatitis C (CVHC) remains very relevant for Russia. There is a debate about which of the most common genotypes in our country: 1 or 3, has a more aggressive course of CVHC. Patients with CVHC exhibit dysfunction of T-cell immunity, many aspects of which remain unclear.Aim. To research the subpopulation composition of blood T-helpers in patients with genotypes 1 and 3 of chronic viral hepatitis C (CVHC) depending on the severity of clinical and morphological manifestations.Materials and methods. Clinical, laboratory examination and determination of liver fibrosis by elastometry using the METAVIR scale were performed in 297 patients with CVHC genotype 1, 231 patients with CVHC genotype 3, and 20 healthy individuals in the control group. The study of the subpopulation composition of T-helpers in the blood by flow cytometry (Navios, Beckman Coulter, USA) with the determination of markers CD3, CD4, CD45R0 and CD62L was carried out in 74 patients with CVHC genotype 1, 70 patients with CVHC genotype 3 and 20 people in the control group.Results. Naive T-helpers (CD3+CD4+CD45RO-CD62L+), T-helpers of central (CD3+CD4+CD45R0+CD62L+) and effector memory (CD3+CD4+CD45R0+CD62L–) in the blood decreased with an increase in the severity of fibrosis and inflammation activity in the liver in both examined groups. In patients with CVHC genotype 3, the content of TEMRA T-helpers (CD3+CD4+CD45R0-CD62L-) in the blood under these conditions sharply decreased (Kruskal – Wallis test, respectively, p = 0.04 and p = 0.02). In patients with CVHC genotype 1, no such patterns were registered (Kruskal – Wallis test, respectively, p = 0.8 and p = 0.87).Conclusion. A direct correlation was determined between the deterioration of the indicators of the blood T-helpers subpopulation composition with an increase in the severity of fibrosis and inflammation activity in the liver in patients with chronic hepatitis C, which had some differences in patients with genotypes 1 and 3.
Groundwater management in the face of climate change: enhancing groundwater storage in the alluvium aquifer of Wadi Araba, Jordan, through GIS-based managed aquifer recharge and groundwater MODFLOW
Authors: Alelaimat Ala’ , Yusoff Ismail , Nizar Mohd Khairul , Ng Tham Fatt , Majali Yahya A. 
Published: December 2023

Abstract

Groundwater is critical in countries such as Jordan, yet demand exceeds availability due to population expansion and arid conditions. The goal of this research is to address water scarcity and adapt to reduced rainfall by investigating the soil aquifer and evaluating the efficiency of managed aquifer recharge (MAR). The Wadi Araba Basin's alluvium aquifer is particularly important and contains a groundwater divide, with water flowing towards the Red Sea to the south and the Dead Sea to the north, as determined by rigorous modelling and scenario analysis. Precipitation infiltration is an important consideration in groundwater budget modelling. This study employs 12 monitoring wells to establish an acceptable relationship between estimated and observed water levels. Furthermore, the study creates a MAR suitability map, which evaluates eight potential MAR locations in the Wadi Araba region. According to forecasted scenarios, implementing MAR in conjunction with increased precipitation recharge has the potential to ameliorate the consequences of decreased rainfall in the model region. The plan aims to raise the water table in three areas by 1.96–3.12%, providing realistic solutions to enhance water availability and adapt to climate change.