bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of a synonymous variant of NPHP3 causing aberrant splicing and its pathogenicity in a Chinese pedigree
Authors: liu Yaqing , Lai Jiayong , Wu Xiaohong , Lin Hongrong , Chen Huamu , Wang Haiyan , Sun Liangzhong 
Published: November 2023

Abstract
Purpose
Nephronophthisis (NPHP) is an autosomal recessive genetic disease. Despite the rapid development of gene detection technology, genetic causes remain unclear in most patients with NPHP. Unidentified pathogenic genes and unrecognized pathogenic variants may contribute to this issue. In this study, we demonstrated the pathogenicity of a synonymous variant of NPHP3 causing aberrant splicing in a Chinese infantile NPHP pedigree.
Methods
Clinical data and blood samples were acquired. Next-generation sequencing(NGS) and data analysis, evaluation and Sanger sequencing were performed. Nephrocystin 3 expression in kidney tissue was detected by immunofluorescence microscopy. mRNA derived from urine-derived renal epithelial cells (URECs) of the synonymous variant carrier were analyzied. In vitro, minigene splicing report was used to verify the pathogenicity of NPHP3 splicing site mutation.
Results
Two siblings were born to a couple of nonconsanguineous parents who progressed to end-stage renal disease before 5 years of age. Both siblings had elevated ALT, and their renal pathology showed typical changes of NPHP. Whole-exon sequencing (WES) of the proband’s genomic DNA revealed only a likely pathogenic intron variant of NPHP3, c.2088 + 5G > A. Reanalysis identified a synonymous variant c.2154C > T (p.F718F) of NPHP3, which is predicted to be benign by most tools but may affect splicing by a few and was ignored in the initial bioinformatic analysis. These two variants cosegregate well in this pedigree. The expression of nephrocystin 3 in kidney tissue from the proband was absent, as detected by immunofluorescence. The mRNA isolated from urinary cells of the synonymous variant c.2154C > T carrier showed alternative splicing in NPHP3. The minigene assay showed that c.2088 + 5G > A led to exon 14 skipping in the transcript, while c.2154C > T only led to an increased ratio of exon 15 skipping in the transcript, which indicated that the results of the minigene assay were not always consistent with the results in vivo.
Conclusion
The synonymous variant compounded with the intron variant of NPHP3 elucidated the previously genetically undefined case of infantile NPHP. These findings suggest that reassessing the pathogenicity of synonymous mutations is necessary, especially when clinical diagnosis is established but pathogenic variants are absent.
Research on the Impact Mechanism of High-Quality Relationship on Proactive Behavior and Creative Collaboration:The Mediating Effect of Meaningfulness of Work and the Moderating Effect of Positive Reciprocity Beliefs
Authors: Li Qiang , Li Yitong , Xu Yang , Wu Yige , Fan Zili 
Published: November 2023

Abstract
Purpose
The meaningfulness of work has become a hot topic of discussion in academia and practice in recent years, but existing research lacks in-depth exploration of the antecedents and outcomes of meaningfulness of work. Based on the sense making theory and social exchange, this paper analyzed the impact mechanism of high-quality relationship on proactive behavior and creative collaboration.
Participants and Methods:
This study used a combination of email and paper questionnaires to investigate knowledge-based employees from a total of 13 enterprises in Hubei, Jiangsu, Zhejiang, and Shanghai regions. In order to reduce the effects of common method biases and causal lag effect, this study is divided into three stages for data collection, with a time interval of a month, and uses the four digits at the end of the mobile phone tail of the survey subjects as the only clue for matching before and after the questionnaire. The hypothesis test was carried out by hierarchical regression analysis, bootstrap and so on.
Results
The results showed that high-quality relationship positively affect employees' proactive behavior and creative collaboration; meaningfulness of work plays a mediating role between high-quality relationship, proactive behavior, and creative collaboration; positive reciprocity beliefs play a moderating role between high-quality relationship and meaningfulness of work; positive reciprocity belief positively moderates the mediating effect of meaningfulness of work between high-quality relationship, proactive behavior, and creative collaboration.
Conclusion
This paper explores the antecedents, consequences, and boundary conditions of meaningfulness of work. It responds to scholar Robertson et al.'s call to search for meaningfulness of work from a relational perspective and Chua et al.'s focus on creative collaboration between two people, which provides valuable reference and inspiration for how to enhance employees' meaningfulness of work and promote positive behavior.
Reducing Neointimal Hyperplasia in Post-Vessel Anastomosis Surgery: A Study on Bivalirudin-Loaded Carbopol 940 Gel.
Authors: Huang Tzu-Yen , Chiu Wei-Chieh , Liang Ya-Jyun , Chen Pin-Yuan , Wang Yao-Chang , Lin Feng-Huei 
Published: November 2023

Abstract
Background: After vascular anastomosis, stenosis at the site of anastomosis is a significant concern as it can lead to severe illness and even death. The primary cause of stenosis in graft anastomoses is the excessive growth of vascular neointima.Methods: We used a bivalirudin-loaded carbopol 940 gel, which can effectively inhibit platelet aggregation. Bivalirudin possesses thrombin-inhibitory properties and can suppress platelet activation and aggregation. Bivalirudin was mixed with carbopol 940 gel to achieve slow release. In vivo experiments were conducted on Wistar rats, and longitudinal incisions were made on the abdominal aorta of the rats. Subsequently, the gel was applied around the vascular incision site. The incision was then sutured with polypropylene suture lines.Results: The drug-releasing profile showed that approximately 60% of bivalirudin was released in 24 hours, and the remainder was slowly released after 50 hours. WST-1 assay and live/dead staining results obtained from A7r5, L929, and HUVEC revealed that the gel is not cytotoxic. In the in vivo study, the vessel walls in the group untreated with the gel increased by 233.3% in four weeks, whereas it increased by 2.8% in the group treated with the gel (p = 0.039).Conclusions: Bivalirudin-loaded carbopol 940 gel can inhibit postoperative neointimal hyperplasia and improve the outcomes of vascular repair surgery.
Synaptic Insights: A Holistic Approach to Brain Pathology Classification through Transfer Learning and Ensemble Techniques
Authors: Palaniappan Ramya , Siva R 
Published: November 2023

Abstract
Background:
Detecting brain diseases like tumors, multiple sclerosis, and strokes at an early stage is challenging due to limited access imaging technologies. Analyzing Magnetic Resonance Imaging (MRI) scans can help spot the disease's progression, which will be especially beneficial for clinicians to plan précised treatment.
Methods:
This research study proposes a novel framework for classifying brain pathologies from MRI modalities to improve clinicians' decision-making ability. This research study developed three distinct deep learning models: a scratch CNN model, a ResNet 101 model improved with transfer learning(m-ResNet101), and an Inception V3 model enhanced through transfer learning (m-InceptionV3). To further improve the efficacy in pathology classification, Weighted Snapshot Fusion Ensemble (WSFE) algorithm is employed to optimize the performance of the proposed model. The internal dynamics of the proposed model is visualized through GradCAM visualization.
Results:
m-ResNet101 model built on applying a transfer learning approach outperformed every other model, achieving an accuracy - 98.72%, F1 score - 99.35%, precision - 99.17%, and recall - 99.21%. Snapshot ensembled model on combining snapshots of m-ResNet-101 model achieves an impressive accuracy of 99.23%, F1 score of 99.46%, precision of 99.34%, and recall of 98.63%.
Conclusion:
The research findings suggest that combining transfer learning and snapshot ensembling will improve the model's performance in classifying brain pathology. Furthermore, the feature maps generated through the GradCAM experiment visually highlight the areas and features within an image that greatly influence the model to make a final classification. Such visuals make the models more transparent and trustworthy, which is critical for deploying AI-based models in healthcare networks.
Effect of BvAgNP on Growth, Development, and Glyoxalase Gene Expression Analysis in Mammillaria bombycina and Selenicereus undatus
Authors: de León Liliana Mercado-Díaz , Garcidueñas-Piña Cristina , Pérez-Molphe-Balch Eugenio , Loera-Muro Abraham , Morales-Domínguez José Francisco 
Published: November 2023

Abstract
Background: Silver nanoparticles (AgNPs) have been used in plant tissue culture as growth stimulants, promoting bud initiation, germination, and rooting. In prior studies, AgNPs were synthesized and characterized by green synthesis using extracts from Beta vulgaris var. Cicla (BvAgNP), and their functionality as seed disinfectant and antimicrobial was verified. In this study, we evaluated the effect of BvAgNP on the growth and development of Mammillaria bombycina and Selenicereus undatus in vitro, as well as the expression of glyoxalase genes.
Methods: Explants from M. bombycina and S. undatus in vitro were treated with 25, 50, and 100 mg/L of BvAgNP. After 69 days, morphological characteristics were evaluated, and the expression of glyoxalase genes was analyzed by qPCR.
Results: All treatments inhibited rooting for M. bombycina and no bud initiation was observed. S. undatus, showed a maximum response in rooting and bud generation at 25 mg/L of BvAgNP. Scanning electron microscopy (SEM) results exhibited a higher number of vacuoles in stem cells treated with BvAgNP compared to the control for both species. Expression of glyoxalase genes in M. bombycina increased in all treatments, whereas it decreased for S. undatus, however, increasing in roots.
Conclusions: This study presents the effects of BvAgNP on the growth and development of M. bombycina and S. undatus, with the aim of proposing treatments that promote in vitro rooting and budding.
Impact of oral health status on oral health related quality of life among institutionalzed elder in el gharbiay governorate
Authors: Eldosoky ahmed , Amin Hatem , Sdeek Safinaz 
Published: November 2023

Abstract

Background
Aging process may directly or indirectly increase the risk of developing diseases. It may develop a large number of pathological and/or physiological changes that could influence dental treatments. In Egypt number of social welfare institutions for elderly people has increased. Therefore, the aim of the present study was to assess the impact of oral health status on Oral Health– Related Quality of Life, among institutionalized elders in EL-Gharbiya governorate.
Methods
The Brief Oral Health Status Examination (BOHSE) was used to assess oral health of the institutionalized elders. Oral health related quality of life of the elders was evaluated using Geriatric Oral Health Assessment index. The GOHAI comprises 12 items reflecting three hypothesized domains of the impact of oral disease: Physical function: eating, swallowing, biting and chewing ,Psychological function: satisfaction with appearance, worries or concern about oral health and inhibition of social contacts as a result of such concerns and Pain and discomfort: eating sensitivity to hot, cold or sweets.
Results
Regarding gender, there was a statistically significant negative correlation between geriatric oral health assessment index scores and brief oral health status examination scores among elder females (r = − .267, p = 0.004). Similarly, a statistical significant negative correlation was detected between geriatric oral health assessment index scores and brief oral health status examination scores among elders above 70 years of age (r = − .371, p = 0.002).Moreover, elders residing in private institutions displayed a statistically significant negative correlation between geriatric oral health assessment scores index and brief oral health status examination scores (r = − .252, p = 0.037).
Conclusion
The highest proportion of oral health problems among the institutionalized elders were oral cleanliness and gum problems (84.7%&76%) respectively. 66.8% of the participants reported a low oral health-related quality of life. Elders reporting a moderate and high oral health-related quality of life represented 20.3% and 12.9% respectively. A significant negative correlation between oral health and oral-health related quality of life was identified among institutionalized elders.
Assessing the spatial extent of African swine fever spread in Nigeria
Authors: Adedeji Adeyinka , Ifende Isioma Victoria , Weka Rebeca , Jambol Anvou , Osemeke Henry , Choji Nyam , Maurice Naven , Tade Adeniyi , Waziri Abbas , Olubade Toyin , Muwanika Vincent , Metreveli Giorgi , Masembe Charles , Luka Pam 
Published: November 2023

Abstract
African swine fever (ASF) is the most important disease of pigs due to its rapid spread and high mortality. ASF has been enzootic in Nigeria since its introduction in 1997, and understanding the spatial spread of the disease is important for devising effective control measures. Hence, this study assessed the spatial extent of ASF spread in selected States of Nigeria, namely: Adamawa, Benue, Cross-River, Delta, Kaduna, Lagos, Ogun, Plateau, and Taraba States. This assessment was based on three aspects: (i) ASF prevalence using tissue and sera collected from pig farms and abattoirs/slaughter slabs (ii) data collection from veterinary authorities and pig farmers using interviews, and (iii) field observation of farmer practices in relation to ASF spread. The results of tissue samples analyzed by polymerase chain reaction revealed an overall ASF prevalence of 10.21% (100/979), with the highest State-level prevalence recorded in Plateau (32.09%), followed by Cross River (25.47%), Kaduna (6.25%), and lowest in Benue (4.26%) States. Farms under the extensive husbandry system (6.98%) had a higher prevalence compared to farms under intensive husbandry system (2.09%). Abattoir samples had a higher positivity rate (16.70%) compared to pig farm samples (4.58%). Analyzed sera revealed an ASF seroprevalence of 17.03% (87/511), with the highest seroprevalence in Benue (42.9%), followed by Lagos (36.69%), Taraba (34.8%). Plateau (10.25%) and the lowest in Ogun (5.9%) State. Husbandry system-wise, a higher seroprevalence was recorded in extensive husbandry systems (20.74%), compared to intensive systems (14.29%). Data collected from veterinary authorities and farmers revealed mixed results. In some States, ASF was alluded to be major concern, while in others, they stated otherwise. Finally, unregulated pig movement and pigs with clinical signs suggestive of ASF were observed in majority of the States during this study. In conclusion, based on the three aspects of this study, ASF may be widespread in Nigeria.
Sinensetin protects against periodontitis via binding to Bach1, enhancing its ubiquitination degradation and improving oxidative stress
Authors: Yan Fuhua , Yuan Zhiyao , Li Junjie , Xiao Fuyu , Wu Yu , Zhang Zhiting , Shi Jiahong , Qian Jun , Zhao Tian , Wu Xudong 
Published: November 2023

Abstract

Periodontitis is a chronic inflammatory and immune reactive disease induced by the subgingival biofilm. The therapeutic effect for susceptible patients is often unsatisfactory due to excessive inflammatory response and oxidative stress. Sinensetin (Sin) is a nature polymethoxylated flavonoid with anti-inflammatory and antioxidant activities. Our study aimed to explore the beneficial effect of Sin on periodontitis and the specific molecular mechanisms. We found that Sin attenuated oxidative stress and inflammatory levels of periodontal ligament cells (PDLCs) under inflammatory conditions. Administered Sin to rats with ligation-induced periodontitis models exhibited the protective effect against periodontitis in vivo. By molecular docking, we identified Bach1 as a strong binding target of Sin, and this binding was further verified by cellular thermal displacement assay (CETSA) and immunofluorescence assays. ChIP-qPCR results also revealed that Sin obstructed the binding of Bach1 to the HMOX1 promoter, subsequently upregulating the expression of the key antioxidant factor HO-1. Further functional experiments with Bach1 knocked down and overexpressed verified Bach1 as a key target for Sin to exert its antioxidant effects. Additionally, we demonstrated that Sin prompted the reduction of Bach1 by potentiating the ubiquitination degradation of Bach1, thereby inducing HO-1 expressionand inhibiting oxidative stress. Overall, Sin could be a promising drug candidate for the treatment of periodontitis by targeting binding to Bach1.
Synthesis, Characterization, in vitro and in silico approach of vanillin acetamides
Authors: Shreedevi S , Bharathi Manickam , Sriba Rajendran 
Published: November 2023

Abstract
A sequence of biologically active vanillin acetamides bearing heterocyclic moiety (VHAs) specifically vanillin isoniazid acetamide (VISO), vanillin-2-pyridine acetamide (V2PR), vanillin-4-pyridine acetamide (V4PR) and vanillin-2-pyrimidine acetamide (V2PM) are synthesized and methodically characterized by spectroscopic techniques such as Nuclear Magnetic Resonance (1H and 13C NMR), Electrospray Ionization Mass, Fourier Transform Infrared and Ultraviolet-Visible spectroscopy. Further, the VHAs are inspected for in vitro biological activities such as anti-inflammatory by protein anti-denaturation, antidiabetic by enzyme inhibition method and the in vitro results are linked with the reference drug. The chemical structure and electronic topographies of VHAs agree with the biological activity distinctions. Hence, thorough analysis has been achieved in the computational methods such as Frontier molecular orbitals, molecular electrostatic potential and Mulliken charge distribution studies using the density functional theory method. Moreover, theoretically calculated UV-visible and FT-IR spectral data are compared with observed results signifying negligible error. The results have been used for the resolve of biomolecule interaction with exact enzymes like α-amylase (1HNY.pdb), cyclooxygenases (1PGG.pdb and 4-COX.pdb) and Bovine Serum Albumin (3V03.pdb) using molecular docking studies. The correlation between in vitro studies and docking results revealed that structural and electronic properties production an important role in biological activity. The ADMET and toxicity studies are also performed using SwissADME and ProToxII webserver to check the pharmacokinetic profile of VHAs.
A case report of prolonged viral shedding of SARS-CoV-2 in a patient who receive ibrutinib for CLL therapy
Authors: Ma Siyuan , Wei Dong , Hu Weiwei , Xi Min , Zhang Yi , Chen Xiaohua , Chen Jie 
Published: November 2023

Abstract
Patients on B cell immunosuppressive treatments have been shown to have persistent infection of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). In this report, a woman treated with ibrutinib for chronic lymphocytic leukemia experienced more than 40 days of coronavirus disease 2019 (COVID-19) infection. Unexpectedly, her peripheral blood experiments showed a normal SARS-CoV-2-specific antibody level and a relatively elevated percentage of CD19 + B cells, while an obvious decrease in the percentages of NK cells, CD4 + T cells and CD8 + T cells. Further SARS-CoV-2-specific T cell analysis in this patient indicated a significant decrease in the percentage of SARS-CoV-2-specific IFN-γ, TNF-α or IL-2 producing CD4 + T or CD8 + T cells. Most notably, ten days after the cease of ibrutinib, the PCR for SARS-CoV-2 turned negative and the reduced proportions of peripheral CD4 + T cells and CD8 + T cells recovered. Our research predicted that the depleted B-cell function therapies may play considerable role in the development of long COVID-19 and the abnormal T-cell subset distribution might be the underlying mechanism.
Serum amylase in chronic kidney disease: An important correlation.
Authors:   1.	Dr Abdul Hameed Shaikh, Qureshi Maria , Qamar Mehwish , Ilyas Tahir , Saba Bilquees , Noor Muhammad Usman , Shoaib Umer Bin , Faizan Muhammad 
Published: November 2023

Abstract

Introduction and aim:
Chronic kidney disease (CKD) is an increasingly prevalent global health concern, with Pakistan experiencing a rising burden of this condition. However, little is known about the relationship between CKD and serum amylase levels in this region. This cross-sectional observational study conducted at the Karachi Institute of Kidney Disease aimed to investigate the association between CKD and serum amylase levels in patients undergoing chronic hemodialysis.
Methods:
A total of 196 participants, both genders, aged over 25, with CKD diagnosed for at least three months, were included in the study. The study spanned six months, from September 2020 to March 2021. Serum amylase, lipase, and creatinine levels were assessed, and data analysis was performed using SPSS version 21.
Results:
Results showed that 89.3% of CKD patients had elevated serum amylase levels, irrespective of whether they received hemodialysis, indicating a strong correlation between decreased kidney function and elevated serum amylase. The study also found no significant effect of gender, age, body mass index, diabetes mellitus, hypertension, or obesity on serum amylase levels in CKD patients.
Conclusion:
Understanding this relationship is crucial for healthcare providers to establish appropriate reference ranges for amylase and avoid misdiagnosis. Future studies on a larger scale are necessary to refine reference ranges for amylase and lipase in CKD patients. Ultimately, this research has significant implications for clinical practice, helping clinicians differentiate between CKD-related changes and other conditions when interpreting serum amylase levels in patients with kidney disease.
A SOM-LSTM combined model for groundwater level prediction in karst critical zone aquifers considering connectivity characteristics
Authors: Guo Fei , Li Shilong , Zhao Gang , Hu Huiting , Zhang Zhuo , Yue Songshan , Zhang Hong , Xu Yi 
Published: November 2023

Abstract

Accurate groundwater level (GWL) prediction is crucial for the management and sustainable utilization of groundwater resources. This study proposes a method, considering spatial-temporal correlation among geographic multi-feature in data, and Self-Organizing Map (SOM)-based clustering technique to identify and partition spatially connectivity among observation wells. Finally, based on the connectivity results, the observation well dataset is determined as inputs to LSTM for GWL prediction. This approach provides a new idea to enhance the accuracy of existing data-driven methods in karst critical zones characterized by significant spatial heterogeneity in GWL. Comparing with prediction models that solely consider internal data correlations, experiments were conducted in the typical highly spatially heterogeneous karst critical zone of Jinan City, Shandong Province, China. The results show a significant improvement in prediction accuracy when considering spatial connectivity between observation wells based on geographical multi-feature spatial-temporal correlation. Confirming that considering the spatial connectivity of observation wells in GWL prediction methods are more accurate, particularly in areas with significant spatial heterogeneity in karst aquifers.