bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical heterogeneity of epilepsy and mutation spectrum of voltage-gated sodium channel genes
Authors: Uzair Mohammad , Mir Ali , Basit Sulman , Qaiser Hammad , Baig Deeba Noreen , Bashir Shahid , Albaradie Raidah 
Published: January 2024

Abstract
Mutations in the genes encoding voltage-gated sodium channels (Nav) family members are the most frequent cause of epilepsy. This study aims to screen Nav genes (SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, and SCN9A) to identify the sequence variations underlying epileptic phenotypes, including seizures, epileptic encephalopathies, and developmental delays. In this retrospective analysis, medical records of 1526 epilepsy patients were reviewed to extract all the patients who had the following genetic testing done: whole exome sequencing (WES), any next-generation sequencing (NGS) panel, and targeted single-gene testing were used to analyze the patients' genomic DNA sequences. Bioinformatics analysis was performed to analyze and detect the effect of variants on protein structure and stability. Sequence data analysis identified 25 heterozygous variants (4 protein-truncating variants and 21 missense variants) in SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, and SCN9A genes, many of them are novel. Recurrent variants in SCN3A (c.2350A>G) and SCN9A (c.279A>C, c.1482G>T) in multiple individuals were also identified. Several therapeutic drugs, including bromide, phenytoin, oxcarbazepine, valproic acid, and ethosuximide were suggested based on Nav variants identified, which indicates a possible personalized therapeutic approach. Novel variants identified in this work add to the mutation continuum of the Nav genes in the epilepsy phenotype. Moreover, our findings emphasize the wide range of symptoms associated with variants in genes encoding Nav channels, as well as the potential for personalized genomics and personalized therapies.
Distribution Patterns of Carbon, Nitrogen and Phosphorus (TOC-TN-TP) in Surface Sediment of Chaoshan Nearshore Waters and Environmental Evaluation Analysis
Authors: Lin Cong , Wang Yang , Jang Junyi , Zhang Yunzhong 
Published: January 2024

Abstract
This paper presents a comprehensive analysis of the distribution characteristics and environmental assessment of total organic carbon (TOC), total nitrogen (TN), and total phosphorus (TP) in the surface sediments of the Chaoshan estuary and nearshore waters from 2020 to 2021. By measuring surface sediment samples from 114 stations in Chaoshan near-shore waters, analyzing their TOC, TN and TP contents and distribution characteristics, and evaluating the pollution status by using two methods, namely, Nemero's Comprehensive Pollution Index Method and Ecotoxicity Effect, the sources of organic matter in surface sediments were initially. By comparing the content of TOC, TN, TP and the source of organic matter in the local area of the study area in the past 15 years, and summarizing the change rule, it is of great significance to comprehensively understand the current situation of surface sediment and the ecological risk of pollution in the study area. The results show:The contents of TOC, TN and TP in the surface sediments of the Chaoshan near-shore waters ranged from 0.05–1.36%, 0.006–0.210%, and 0.015–0.112%, respectively; The distribution is higher in the bay than outside the bay, higher at the mouth of the river than in the near-shore area, and gradually decreasing from the shore to the sea.;34.2% of the stations in the study area are at cleaner and above levels, 65.8% of the stations are at light to moderate pollution levels, 71.9% of the area is heavily polluted by TN and meets the criteria for Class II pollution, and 28.1% of the area is polluted by TOC and TP, which are Class I polluted༛Based on the C/N ratio to determine the source of organic matter, the source of organic matter in the surface sediments in the study area is dominated by input from marine sources, and there is a significant correlation between the various factors༛Comparison of localized surface sediments in the study area in the last 15 years revealed that TOC and TN content decreased compared to the historical period, TP content increased, C/N ratio increased compared to the historical period and was greater than 8, and the source of organic matter was dominated by a mixture of inputs from both marine and terrestrial sources.
The Role of Neutrophil Extracellular Traps (NETs) in Non-alcoholic Fatty Liver Disease (NAFLD): A Comprehensive Analysis of NETs-related Genes
Authors: FANG ZHIHAO , Yu Xiaoxiao , Liu Changxu , Yang Kai , Ji Yanchao , Liu Chang 
Published: January 2024

Abstract
Non-alcoholic Fatty Liver Disease (NAFLD), prevalent among adults, has become a dominant chronic liver condition worldwide, with a rising incidence of liver cirrhosis. The progression of NAFLD is critically influenced by Neutrophil Extracellular Traps (NETs), which play a key role in its pathogenesis. However, the specific functions of NETs-related genes within NAFLD necessitate further in-depth research. Our team utilized advanced methodologies including AddModuleScore, ssGSEA, and WGCNA for gene screening, identifying NETs-linked genes in single-cell and bulk transcriptomic data. Through algorithms such as Random Forest, Support Vector Machine, Least Absolute Shrinkage and Selection Operator, and Selector Operator, we identified ZFP36L2 and PHLDA1 as significant hub genes. Their role in NAFLD diagnosis was validated using the training dataset GSE164760 and further confirmed in an animal model. The study pinpointed 116 NET-associated genes, predominantly involved in immune and metabolic pathways. Notably, PHLDA1 and ZFP36L2 were determined as hub genes via machine learning techniques, contributing to a predictive model. These genes are involved in inflammatory and metabolic processes, with single-cell RNA sequencing (scRNA-seq) revealing distinct cellular communication patterns based on their expression. In conclusion, this research elucidates the molecular characteristics of NET-associated genes in NAFLD, identifying PHLDA1 and ZFP36L2 as potential biomarkers. By exploring their roles in the hepatic microenvironment, our findings offer significant insights for diagnosing and managing NAFLD, ultimately aiming to enhance patient outcomes.
A Comparative Study on Biosynthesized Silver Nanoparticles from H. undatus Fruit Peel and its Therapeutic Applications
Authors: Anguraj Aswini , Michael Helan Soundra Rani , Sugumaran Sathish , Madhusudhanan Gogul Ramnath , Sivaraman Rathish Kumar 
Published: January 2024

Abstract

The green synthesis of nanoparticles has gained significant impacts in various fields due to their eco-friendly approach. In this study, silver nanoparticles were synthesized from aqueous extract of H. undatus fruit peel. The presence of silver nanoparticles (AgNPs) was analyzed using characterization methods such as UV-Vis, FTIR, GCMS, XRD, EDAX and FESEM. The synthesized AgNPs showed the highest antibacterial activity against E. coli when compared to S. pneumoniae. The highest antifungal activity was observed against C. albicans than C. tropicalis. IC50 value of antibiofilm activity of AgNPs was recorded as 2.81 µg/ml whereas H. undatus peel extract exhibited the value of 1.34 µg/ml. The invitro antioxidant activity of AgNPs was evaluated using two different methods. A strong DPPH radical scavenging activity of AgNPs and fruit peel extract was observed with the IC50 values of 3.8 and 2.03 µg/ml respectively. On other hand, nitric oxide radical scavenging activity were recorded and IC50 values was calculated to be 2.8 and 2.3 µg/ml. The AgNPs demonstrated thrombolytic activity in human blood with 10, 32.36 and 56.25% lysis. The cytotoxicity of AgNPs possessed minimum activity with an IC50 0.2 µg/ml and peel extract showed the maximum cytotoxicity activity with an IC50 0.3 µg/ml. The findings of this study demonstrate that the synthesized AgNPs from H. undatus peel extract used as a potential candidate for treating prostate cancer.
Utilize multi-metabolic parameters as determinants for prediction of skeletal muscle mass quality in elderly type2 diabetic Chinese patients
Authors: Chen Huiling , Lou Jingjing , Dong Meiyuan , Wen Song , Liu Xintao , Zhou Ligang , Yan Shijie , Liu Xingdang , Yuan Xinlu 
Published: January 2024

Abstract
Background: Sarcopenia, an age-related disorder characterized by loss of skeletal muscle mass and function, is recently recognized as a complication in elderly patients with type 2 diabetes mellitus (T2DM). Skeletal muscles play a crucial role in glycemic metabolism, utilizing around 80% of blood glucose. Accordingly, we aimed to explore the relationship between glucose metabolism and muscle mass in T2DM.
Methods: We employed the AWGS 2019 criteria for diagnosing low muscle mass and 1999 World Health Organization (WHO) diabetes diagnostic standards. This study included data of 191 individuals aged 60 and above with T2DM of Shanghai Pudong Hospital from November 2021 to November 2022. Fasting C-peptide (FPCP), fasting plasma glucose (FPG), 2-hour postprandial plasma glucose (PPG) and postprandial 2-hour C-peptide (PPCP), glycated hemoglobin A1c (HbA1c), glycated albumin (GA), serum lipids spectrum, renal and hepatic function, hemoglobin, and hormone were measured. Based on the findings of univariate analysis, multivariate regression and receiver operating characteristic (ROC) curves were established.
Results: Participants with low muscle mass had significantly lower alanine and aspartate aminotransferase, and both FPCP and PPCP levels (P<0.05). Compared with those without low muscle mass, low muscle mass group had significantly higher FPG, HbA1c, GA levels (P<0.05). body fat (BF, OR=1.181) was an independent risk factor for low muscle mass. PPCP (OR=0.497), BMI (OR=0.548), and female (OR=0.050) were identified as protective factors for low skeletal muscle. The AUC of BMI was the highest, followed by the PPCP, gender and BF (0.810, 0.675, 0.647, and 0.639, respectively), and the AUC of the combination of the above three parameters reached 0.895.
Conclusions: In this cross-sectional study, BMI, Female, and PPCP associated with T2DM were protective factors for low muscle mass. BF was associated with T2DM and risk factor for low muscle mass.
The survival benefit of Pegylated Liposomal Doxorubicin-Based Neoadjuvant Chemotherapy in the management of breast cancer
Authors: Li Ruoyang , Zhao Xuewei , Huang Yunfei , Li Chunxiao , liu lei , Wang Meiqi , Wang Jiaxing , Song Zhenchuan 
Published: January 2024

Abstract
Purpose This study aims to evaluate the short-term outcomes and prognosis and the cardiac safety of PLD-based neoadjuvant chemotherapy (NAC) compared to epirubicin-based therapy in breast cancer treatment.
Methods 304 patients diagnosed with stages II and III breast cancer were enrolled including 97 cases treated with PLD and 207 controls treated with epirubicin in neoadjuvant chemotherapy. The effectiveness of the anti-breast cancer treatment was evaluated using overall survival (OS) and disease-free survival (DFS) metrics, while cardiac toxicity was measured through the left ventricular ejection fraction (LVEF) and electrocardiogram (ECG) assessments.
Results The 5-year DFS and OS rates in the PLD group were 84.5% and 88.7% (with 15 recurrences and 11 deaths), while in the control group, these rates were 72.9% and 79.2% (with 56 recurrences and 43 deaths). Regarding cardiac toxicity, there was no significant difference in ECG abnormalities or left ventricular ejection fraction (LVEF) decline between the two groups.
Conclusion The study suggests that PLD-based neoadjuvant chemotherapy may provide substantial benefits in terms of DFS and OS, along with a safe cardiac toxicity profile, in patients with stage II-III breast cancer.
Investigating the ecological fallacy through sampling distributions constructed from finite populations
Authors: Torres David , Rouson Damian 
Published: January 2024

Abstract
Correlation coefficients and linear regression values computed from group averages can differ from correlation coefficients and linear regression values computed using individual scores. This observation known as the ecological fallacy often assumes that all the individual scores are available from a population. In many situations, one must use a sample from the larger population. In such cases, the computed correlation coefficient and linear regression values will depend on the sample that is chosen and the underlying sampling distribution. The sampling distribution of correlation coefficients and linear regression values for group averages will be identical to the sampling distribution for individuals for normally distributed variables for samples drawn from infinitely large continuous distributions. However, data that is acquired in practice is often acquired when sampling without replacement from a finite population. Our objective is to demonstrate through Monte Carlo simulations that thesampling distributions for correlation and linear regression will also be similar for individuals and group averages when sampling without replacement from normally distributed variables. These simulations suggest that when a sample from a population is selected, the correlation coefficients and linear regression values computed from individual scores will not be more accurate in estimating the entire population values compared to samples when group averages are used as long as the sample size is the same.
Electrolyte Depletion Triggers Vicious Circles in Fast-Charging Batteries
Authors: Li Linsen , Meng Dechao , Xue Zhichen , Chen Guokang , Zhou Dengke , He Yushi , Liu Yijin , Ma Zi-Feng 
Published: January 2024

Abstract
Fast-charging lithium-ion batteries provide a promising solution to addressing the range anxiety of electric vehicles (EVs) but they face challenges in durability and safety. Kinetically driven lithium-plating on the anode is widely considered as a major bottleneck and has dominated the research attention so far. Here we study fast-charging-induced failures in EV-relevant batteries through lengthscale-bridging, multi-modal correlative imaging techniques. Electrolyte depletion is found to be the first domino to fall, which triggers a wide range of anode failures including the lithium plating and byproducts accumulation. The cathode remains relatively health early on but does exhibit increasing heterogeneity in lithium concentration, particle fracture behaviors, and lattice-structure disorder at the late-stage. These complex electro-chemo-mechanical interplays trigger self-amplifying “vicious circles” and cause severe electrode distortion and even rupture inside the batteries, which become hidden safety threats. This work provides the much-needed, holistic perspectives to developing better fast-charging batteries.
Assessing the groundwater quality in Ghana's Nanton District: comprehensive evaluation and implications for sustainable management
Authors: Iddrisu Umar Farouk , Armah Edward Kwaku , Amedorme Bright Selorm , Mbatchou Valentine Chi 
Published: January 2024

Abstract

This study, conducted in the Nanton District of Northern Ghana, assesses groundwater quality for drinking purposes and examines hydrochemical processes. We collected and analyzed 30 groundwater samples, evaluating their physicochemical properties, microbial content, microbial and physicochemical relationship, and hydrochemistry. Utilizing methods such as the weighted arithmetic water quality index (WQI), Gibbs and Piper diagrams, Stiff plots, scatter plots, and correlation matrices, we aimed to comprehensively understand groundwater quality in the district. Physicochemically, our findings indicate that approximately 83.3% of the groundwater is safe for direct consumption without treatment. However, microbial contamination was prevalent in all samples, rendering them unsafe. Parameters such as iron, manganese, color, turbidity, nitrates, sulfate, and pH were identified as potential influencers of microbial survival in the groundwater. Regarding major ions, sodium (Na+) dominated among cations, while bicarbonate (HCO3-) was the primary anion. Water types were categorized as Na-K-HCO3−, Na-K-Cl-SO42−, Ca-Mg-HCO3−, and mixed water, reflecting the hydrochemical composition. Our analysis revealed that rock weathering, evaporation, ion exchange, and human activities influence groundwater chemistry. We recommend further research to assess groundwater availability for sustainable development in the district. Additionally, continued research is encouraged to enhance our understanding of the correlation between coliform bacteria and physicochemical water parameters.
Synthesis and evaluation of novel copper hydroxide-loaded SBA-15 as inhibitors for an oilfield carbonate scale control: an experiment and a model study
Authors: K. El-Sawaf Ayman , Mubarak Mahmoud F. , Selim Hanaa , Hosny Rasha 
Published: January 2024

Abstract
The oil and gas industry faces significant challenges in scaling, leading to financial losses and production decline. This study aims to synthesize solid-scale inhibitors using copper hydroxide-loaded SBA-15 catalysts for the scale removal. The catalysts were synthesized using a simple impregnation method, and characterized using various tests. To evaluate the scale inhibition efficiency, static scale inhibition tests are conducted, measuring the effectiveness of the synthesized inhibitors in preventing scale formation. The results show potential applications for copper hydroxide-loaded SBA-15 solid-scale inhibitors in the oil and gas industry. The inhibitor's efficiency increases under alkaline conditions, while its efficacy decreases with rising pH. At an optimal dosage of 7.5 ppm and temperature of 55 °C, the inhibitor achieves an impressive 99% inhibition efficiency on calcium carbonate, indicating excellent inhibitory performance. This material holds promise for more efficient and cost-effective scaling inhibition solutions across various industrial processes.
Examining factors driving inequities in water, sanitation, hygiene, and waste management services in healthcare facilities in Ghana: An analysis of routine national data
Authors: Dubik Stephen Dajaan , Amegah Kingsley E. , Kwakye Akosua Takyiwa , Ashinyo Mary Eyram 
Published: January 2024

Abstract
In Ghana, little is known about the drivers of inequities of basic water, sanitation, and hygiene (WASH) services in healthcare facilities (HCFs). We aim to examine the status and factors driving access to basic WASH services in Ghana. This survey involved an analysis of routine health service data submitted to the District Information Management System 2 (DHIMS 2). Complete data were available for 1,646 HCFs across Ghana for analysis. Coverage of basic Water, Sanitation and hygiene services was 69, 58, and 64%, respectively. About 50% had a WASH-IPC action plan, and 67% had a WASH-IPC manager who is responsible for the day-to-day WASH management. Regional inequities in access to basic WASH services exist, with the newly established regions and those in Northern Ghana being disadvantaged. Significant drivers of basic WASH services were the location of HCF, the level of service delivery, and availability of a trained facility-based assistant WASH manager. WASH services in Ghanaian HCFs have improved, but it is still not up to the standards set by the Sustainable Development Goals for WASH. Universal access to basic WASH services can be attained by mounting targeted WASH interventions and appointing WASH-IPC managers at all levels of the health system.
Sodium Intake Estimation in Hospital Patients Using AI-Based Imaging: Prospective Pilot Study
Authors: Ryu Jiwon , Kim Sejoong , Lim Yejee , Ohn Jung Hun , Kim Sun-wook , Cho Jae Ho , Park Hee Sun , Lee Jongchan , Kim Eun Sun , Kim Nak-Hyun , Song Ji Eun , Kim Su Hwan , Suh Eui-Chang , Mukhtorov Doniyorjon , Park Jung Hyun , Kim Sung Kweon , Kim Hye Won 
Published: January 2024

Background
Measurement of sodium intake in hospitalized patients is critical for their care. In this study, artificial intelligence (AI)–based imaging was performed to determine sodium intake in these patients.

Objective
The applicability of a diet management system was evaluated using AI-based imaging to assess the sodium content of diets prescribed for hospitalized patients.

Methods
Based on the information on the already investigated nutrients and quantity of food, consumed sodium was analyzed through photographs obtained before and after a meal. We used a hybrid model that first leveraged the capabilities of the You Only Look Once, version 4 (YOLOv4) architecture for the detection of food and dish areas in images. Following this initial detection, 2 distinct approaches were adopted for further classification: a custom ResNet-101 model and a hyperspectral imaging-based technique. These methodologies focused on accurate classification and estimation of the food quantity and sodium amount, respectively.
The 24-hour urine sodium (UNa) value was measured as a reference for evaluating the sodium intake.

Results
Results were analyzed using complete data from 25 participants out of the total 54 enrolled individuals. The median sodium intake calculated by the AI algorithm (AI-Na) was determined to be 2022.7 mg per day/person (adjusted by administered fluids). A significant correlation was observed between AI-Na and 24-hour UNa, while there was a notable disparity between them. A regression analysis, considering patient characteristics (eg, gender, age, renal function, the use of diuretics, and administered fluids) yielded a formula accounting for the interaction between AI-Na and 24-hour UNa. Consequently, it was concluded that AI-Na holds clinical significance in estimating salt intake for hospitalized patients using images without the need for 24-hour UNa measurements. The degree of correlation between AI-Na and 24-hour UNa was found to vary depending on the use of diuretics.

Conclusions
This study highlights the potential of AI-based imaging for determining sodium intake in hospitalized patients.
A Call to Reconsider a Nationwide Electronic Health Record System: Correcting the Failures of the National Program for IT
Authors: Morris James Seymour 
Published: January 2024

Abstract
The National Programme for IT (NPfIT) was launched in 2005 to implement 7 nationwide IT services across the National Health Service (NHS). Despite the success of many of these designated “deliverables,” the establishment of a single nationwide electronic health record (EHR) system never fully materialized. As a result, NHS medical records are now stored using a diverse array of alternate EHR systems, which frequently restricts health care practitioners from accessing extensive portions of their patients’ notes. This not only limits their ability to make well-informed clinical decisions but also impacts the quality of care they are able to provide. This article assesses the medical, economic, and bureaucratic implications of an NHS-wide EHR system. Additionally, it explores how the shortcomings of the NPfIT should be addressed when attempting to introduce such a system in the future.