bluuebunny/crossref_metadata_2025_split huggingface dataset:
CHD2‐related epilepsy with eyelid myoclonia: Report of three cases
Authors: Padilla Hannah , Pinto e Vairo Filippo , Wirrell Elaine C. , Wong‐Kisiel Lily C. , Fine Anthony L. , Lanpher Brendan C. , Smith Kelsey M. 
Published: November 2024

AbstractThe aim of this study is to report three cases of epilepsy with eyelid myoclonia (EEM) with CHD2 pathogenic variants. A database of 134 patients with EEM evaluated at Mayo Clinic sites was searched to identify patients with CHD2 variants. The medical records of those identified were reviewed to describe their presentation, treatment, and clinical course. Three patients (2 males, 1 female) with EEM were found to harbor de novo CHD2 pathogenic variants (c.2636C>T p.(Ala879Val), c.3734delA p. (Lys1245Asnfs*4), and c.3896delTinsCG p. (Val1299Alafs*5)). All three patients had comorbid autism spectrum disorder (ASD), intellectual disability (ID), and attention deficit disorder (ADHD). Eyelid myoclonia was a prominent seizure type that persisted in the three patients despite trials of multiple antiseizure medications. Generalized tonic–clonic seizures occurred in two of the patients but were controlled with antiseizure medications. Genetic testing should be considered in patients presenting with EEM, especially when ADHD, ID, ASD, and drug‐resistant seizures are present. Further understanding of the relationship between CHD2 variants and epileptogenesis may provide important insights into the pathogenesis of EEM.
Recent advances in anion exchange membrane technology for water electrolysis: a review of progress and challenges
Authors: Qayoom Abdul , Ahmad Muhammad Shakeel , Fayaz H. , Qazi Atika , Selvaraj Jeyraj , Zainul Rahadian , Krismadinata  , Rahim Nasrudin Abd , Atamurotov Farruh , Tran Thien Khanh , Souayeh Basma , Benti Natei Ermias 
Published: November 2024

AbstractClean energy and environmental pollution are two key concerns of modern society and are pivotal necessities for the economic, social, and sustainable development of the world. Today around 80% of energy is generated using nonrenewable resources and fossil fuels (oil, gas, coal) which ultimately results in hazardous global emissions. As a clean substitute for fossil fuels, hydrogen has emerged as a promising and renewable energy resource. Utilization of this energy resource requires the development of active, stable, low‐cost environmentally friendly techniques. Water splitting electrolysis is a method for producing clean and efficient hydrogen using an environmentally benign technique that is currently at its most mature stage. Electrolysis is attracting ever‐increasing attention, as it is a promising electrochemical device for hydrogen production from water due to the high conversion efficiency and relatively low energy input required when compared to thermochemical and photocatalytic methods. This paper will outline the need, performance, and insight of anion exchange membrane (AEM) electrolyzer. Recent developments in the design and preparation of AEM. New strategies for activity, stability, and efficiency improvement of AEM. Membrane types, and factors affecting AEM performance in an electrolyzer. This review also discusses the effects, operating characteristics, and energy consumption of electrocatalysts in the AEM electrolyzer. Hydrogen evolution reaction (HER) and oxygen evolution reaction (OER) pathways and mechanisms in acidic and alkaline media. This study seeks to provide a detailed overview of recent accomplishments in the field of the hydrogen economy, particularly electrolysis, to inspire further research and development to address the technology's obstacles.
Association of Changes in Relevant Indicators With Cardiovascular Disease and Osteoporosis in Perimenopausal and Postmenopausal Women
Authors: Luo Xiaoyan , Zhang Jun , Guo Yichuan , Xu Liangzhi 
Published: November 2024

ABSTRACTThe essence of menopause is ovarian failure, decreased estrogen volatility, and deficiency leading to multiple related symptoms and an increased risk of metabolic disease in women, such as cardiovascular disease and osteoporosis. This study screened 773 eligible postmenopausal and perimenopausal women from an initial pool of 1187 participants, and various physiological and biochemical indices were measured and analyzed to assess differences across three age groups (40–44 years, 45–49 years, 50–54). We found no significant difference in the rate of cardiovascular disease between postmenopausal and perimenopausal women, while the rate of osteoporosis was higher in postmenopausal women compared to perimenopausal women. The disease of osteoporosis in postmenopausal women was associated with age (p < 0.05). We also found that postmenopausal women and perimenopausal women had significant effects on follicle‐stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E2), total cholesterol (TC), lumbar spine BMD (T1), femoral neck BMD, The bone density (T2) of the right femur was significantly affected. There are significant differences in FSH, LH, E2, TC, low‐density lipoprotein (LDL), L2–L4, T1, Neck of femur decrease, and T2 in women of different ages. Furthermore, the correlation analysis between age and E2 and metabolic indicators showed that age has a greater impact on the risk of postmenopausal and perimenopausal females. This study can help further understand the mechanisms of cardiovascular disease and osteoporosis in perimenopausal and menopausal women.
Gallstones increase the risk of nonalcoholic fatty liver: A case‐control study
Authors: Sheibani Abdolreza , Reihani Hamid , shoja Ahmad , Gharibvand Mohammad M. , Hanafi Mohammad G. 
Published: November 2024

AbstractBackgroundNonalcoholic fatty liver disease (NAFLD) and gallstones are generally seen together, and many of the risk factors for fatty liver and gallstones are common and similar. Therefore, this study aims to investigate the relationship between NAFLD and gallstones.MethodsThis case‐control study was conducted in patients referred to Imam Khomeini and Golestan hospitals of Ahvaz University of Medical Sciences in 2023, whose ultrasound showed fatty liver. Patients who were diagnosed with NAFLD by ultrasound were considered as the case group, and patients who did not have diagnostic findings of fatty liver in ultrasound were considered as the control group. Finally, the information recorded in the checklists was statistically analyzed using SPSS version 26 (SPSS Inc.).ResultsThree hundred patients were included in our study, 150 as cases and 150 as controls. There was no significant difference between the groups in terms of gender and age (gender P‐value: 0.817/age P‐value: 0.102). A statistically significant relationship was found between obesity, diabetes mellitus (DM), the presence of gallstones, and NAFLD (weight p‐value < 0.001/DM p‐value < 0.001/gallstones P‐value: 0.03). In addition, based on binary logistic regression analysis, the presence of gallstones increases the odds of NAFLD by 2.33 times (P‐value: 0.035). Furthermore, having DM and increasing each BMI unit increases the odds of NAFLD by 16 times and 30%, respectively (BMI p‐value < 0.001/DM p‐value < 0.001).ConclusionBased on the results of our study, gallstones are an important risk factor for NAFLD. The possible mechanisms are the existence of common risk factors between gallstones and NAFLD and the reduction of motility and flow of bile in the bile ducts with the presence of gallstones.
Self‐reported physical activity and gait in older adults without dementia: A longitudinal study
Authors: Krell‐Roesch Janina , Syrjanen Jeremy A. , Moeller Tobias , Krafft Jelena , Barisch‐Fritz Bettina , Kremers Walter K. , Ali Farwa , Knopman David S. , Petersen Ronald C. , Stein Thorsten , Woll Alexander , Vassilaki Maria , Geda Yonas E. 
Published: November 2024

AbstractBackground and AimsPhysical activity (PA) is associated with higher gait speed. We aimed to examine the associations between PA and change in spatial and temporal gait measures as well as fall risk in community‐dwelling individuals free of dementia.MethodsLongitudinal study among 4173 individuals aged ≥50 years (mean age 71 years; 2078 males; median follow‐up 4 years) enrolled in the Mayo Clinic Study of Aging. Self‐reported late‐life PA was used to calculate overall PA and moderate‐vigorous PA (MVPA) scores. Gait was assessed using GAITRite® and Zeno™ systems. Incident falls information was based on diagnostic codes retrieved from medical records. We ran linear mixed effects models to examine associations between z‐scored PA variables and longitudinal gait parameters, adjusted for age, sex, education, body mass index (BMI), medical comorbidities, and including interactions between PA and time since baseline. In secondary analyses, we calculated Cox Proportional hazard models with age as time scale predicting incident falls by PA, adjusting for sex, education, BMI, medical comorbidities, and falls history.ResultsAt baseline, higher PA was associated with higher velocity (overall PA: estimate 2.9935; MVPA: 2.2961; p < 0.001), higher cadence (overall PA: 1.0665; MVPA: 0.9073; p < 0.001), greater stride length (overall PA: 2.0805; MVPA: 1.4726; p < 0.001), shorter double support time (overall PA: −0.0257; MVPA: −0.0205; p < 0.001), and lower stance time variability (overall PA: −0.0204, p < 0.001; MVPA: −0.0152; p = 0.006). Overall PA was longitudinally associated with less decline in cadence, and MVPA with less increase in intraindividual stance time variability. Overall PA (Hazard ratio 0.892, 95% confidence interval 0.828–0.961, p = 0.003) and MVPA (HR 0.901; 95% CI 0.835–0.973, p = 0.008) were associated with a decreased risk of incident falls.ConclusionLate‐life PA was associated with favorable gait outcomes and decreased risk of incident falls. Thus, late‐life PA may help to maintain gait performance and decrease fall risk in old age.
Longitudinal relationship between adolescent emotional self‐regulation and prosocial behavior toward powerful people: Disentangling between‐person differences from within‐person effects
Authors: Li Xiaoxu , Fu Xinyuan , Wang Yue , Liu Chuanjun 
Published: November 2024

AbstractIntroductionThis study investigated the longitudinal effects between adolescent emotional self‐regulation and prosocial behavior toward powerful people (i.e., actions aimed at benefiting or supporting individuals who hold significant influence or authority within a group or society), based on the perspective of positive socialization cycle.MethodsWe recruited 543 Chinese adolescents (284 girls, M age at Time 1 = 11.27 years) and collected three waves of data over 3 years, each approximately 1 year apart (n Time 2 = 449, n Time 3 = 417). Traditional cross‐lagged panel model was conducted to test the longitudinal relationship between emotional self‐regulation and prosocial behavior toward powerful people. Then, a random‐intercept cross‐lagged panel model was performed to disentangle the between‐person differences from the within‐person predictive processes.ResultsThe results showed that, emotional self‐regulation in the previous year was positively associated with prosocial behavior toward powerful people in the next year, whereas earlier prosocial behavior toward powerful people was not predictive of subsequent emotional self‐regulation.ConclusionsFindings advocate the domain‐specific nature of self‐regulation and prosocial behavior and deepen our understanding of the relationship between the two from the culture‐specific perspective. This study also highlights the value of emotional self‐regulation intervention as a viable way to promote adolescent prosocial development. Theoretical and empirical implications are discussed.
Overexpression of Nfs1 Cysteine Desulphurase Relieves Sevoflurane‐Induced Neurotoxicity and Cognitive Dysfunction in Neonatal Mice Via Suppressing Oxidative Stress and Ferroptosis
Authors: Zhang Yang , Liu Xinru , Xie Lijuan , Hong Jin , Zhuang Qin , Ren Li , Li Xiaohong , Zhang Congli 
Published: November 2024

ABSTRACTClinical evidence suggests that multiple exposures to sevoflurane in young people may be detrimental to cognitive development. Iron accumulation in the hippocampus is associated with sevoflurane‐induced neurotoxicity and cognitive deficits. The cysteine desulphurase, Nfs1, the rate‐limiting enzyme for the biosynthesis of iron–sulphur clusters, plays a role in cellular iron homeostasis. However, the impact of Nfs1‐mediated ferroptosis on sevoflurane‐induced neurotoxicity and cognitive impairments in neonatal mice remains undetermined. Neonatal mice at postnatal Day 6 received 3% sevoflurane daily for 3 consecutive days. Cognitive function was assessed using the Morris water maze test, and neurotoxicity was evaluated through terminal deoxynucleotidyl transferase dUTP nick end labeling and immunofluorescence staining. Here, HT22 hippocampal neurons were employed for in‐vitro experiments, and Fe2+ accumulation was measured. Ferroptosis‐related genes, including glutathione peroxidase 4 (GPX4), transferrin receptor 1 (TFR1) and ferritin, in the hippocampus and HT22 cells were observed, along with oxidative stress‐related indicators such as reactive oxygen species (ROS), methionine adenosyltransferase (MAT), glutathione (GSH) and lipid peroxidation (LPO). Transmission electron microscopy was utilized to examine the mitochondrial microstructure. Sevoflurane exposure significantly decreased Nfs1 expression in the hippocampus of mice and HT22 cells. This exposure resulted in cognitive impairments and neuronal damage in the hippocampus, which were alleviated by overexpression of Nfs1. Intracellular and mitochondrial iron accumulation occurred in HT22 cells following sevoflurane treatment. Sevoflurane exposure also significantly reduced GSH levels and increased levels of malondialdehyde, ROS and LPO in the hippocampus or HT22 cells. Additionally, sevoflurane exposure decreased GPX4 expression but increased TFR1 and ferritin expression in the hippocampus or HT22 cells. Overexpression of Nfs1 reversed the sevoflurane‐induced alterations in ferroptosis‐related genes and oxidative stress‐related indicators. Furthermore, overexpression of Nfs1 alleviated sevoflurane‐induced mitochondrial dysfunction. However, Nfs1 knockdown alone did not result in cognitive impairments, ferroptosis or oxidative stress. The overexpression of Nfs1 mitigated sevoflurane‐induced neurotoxicity and cognitive impairment by modulating oxidative stress and ferroptosis through the regulation of iron metabolism and transport.
Single‐cell transcriptomics reveals IRF7 regulation of the tumor microenvironment in isocitrate dehydrogenase wild‐type glioma
Authors: Li Jinwei , Long Shengrong , Yang Zhang , Wei Wei , Yu Shuangqi , Liu Quan , Hui Xuhui , Li Xiang , Wang Yinyan 
Published: November 2024

AbstractMutations in isocitrate dehydrogenase (IDH) are important markers of glioma prognosis. However, few studies have examined the gene expression regulatory network (GRN) in IDH‐mutant and wild‐type gliomas. In this study, single‐cell RNA sequencing and spatial transcriptome sequencing were used to analyze the GRN of cell subsets in patients with IDH‐mutant and wild‐type gliomas. Through gene transcriptional regulation analysis, we identified the M4 module, whose transcription factor activity is highly expressed in IDH wild‐type gliomas compared to IDH‐mutants. Enrichment analysis revealed that these genes were predominantly expressed in microglia and macrophages, with significant enrichment in interferon‐related signaling pathways. Interferon regulatory factor 7 (IRF7), a transcription factor within this pathway, showed the highest percentage of enrichment and was primarily localized in the core region of wild‐type IDH tumors. A machine‐learning prognostic model identified novel subgroups within the wild‐type IDH population. Additionally, IRF7 was shown to promote the proliferation and migration of T98G and U251 cells in vitro, and its knockdown affected glioma cell proliferation in vivo. This study systematically established the regulatory mechanism of IDH transcriptional activity in gliomas at the single‐cell level and drew a corresponding cell map. The study presents a transcriptional regulatory activity map for IDH wild‐type gliomas, involving single‐cell RNA sequencing and spatial transcriptomics to identify gene regulatory networks, machine learning models for IDH subtyping, and experimental validation, highlighting the role of IRF7 in glioma progression.
An inflammatory cytokine signature predicts IgA nephropathy severity and progression
Authors: Chen Lei , Chen Xizhao , Cai Guangyan , Jiang Hongli , Chen Xiangmei , Zhang Min 
Published: November 2024

AbstractIgA nephropathy (IgAN) is the most prevalent primary glomerulonephritis, resulting in end‐stage renal disease and increased mortality rates. Prognostic biomarkers reflecting molecular mechanisms for effective IgAN management are urgently needed. Analysis of kidney single‐cell transcriptomic sequencing data demonstrated that IgAN expressed high‐expression levels of inflammatory cytokines TNFSF10, TNFSF12, CCL2, CXCL1, and CXCL12 than healthy controls (HCs). We also measured the urine proteins in 120 IgAN (57 stable and 63 progressive) and 32 HCs using the proximity extension assay (PEA), and the multivariable and least absolute shrinkage and selection operator (LASSO) logistic regression analysis both revealed that CXCL12, MCP1 were the prognostic significant variables to predict IgAN progression severity. These two proteins exhibited negative correlation with the estimated glomerular filtration rate (eGFR) and patients with higher expression levels of these two proteins had a higher probability to have poorer renal outcome. We further developed a risk index model utilizing CXCL12, MCP1, and baseline clinical indicators, which achieved an impressive area under the curve (AUC) of 0.896 for prediction of IgAN progression severity. Our study highlights the significance of the inflammatory protein biomarkers for noninvasive prediction of IgAN severity and progression, offering valuable insights for clinical management.
Immunometabolism: signaling pathways, homeostasis, and therapeutic targets
Authors: Xu Rongrong , He Xiaobo , Xu Jia , Yu Ganjun , Wu Yanfeng 
Published: November 2024

AbstractImmunometabolism plays a central role in sustaining immune system functionality and preserving physiological homeostasis within the organism. During the differentiation and activation, immune cells undergo metabolic reprogramming mediated by complex signaling pathways. Immune cells maintain homeostasis and are influenced by metabolic microenvironmental cues. A series of immunometabolic enzymes modulate immune cell function by metabolizing nutrients and accumulating metabolic products. These enzymes reverse immune cells’ differentiation, disrupt intracellular signaling pathways, and regulate immune responses, thereby influencing disease progression. The huge population of immune metabolic enzymes, the ubiquity, and the complexity of metabolic regulation have kept the immune metabolic mechanisms related to many diseases from being discovered, and what has been revealed so far is only the tip of the iceberg. This review comprehensively summarized the immune metabolic enzymes’ role in multiple immune cells such as T cells, macrophages, natural killer cells, and dendritic cells. By classifying and dissecting the immunometabolism mechanisms and the implications in diseases, summarizing and analyzing advancements in research and clinical applications of the inhibitors targeting these enzymes, this review is intended to provide a new perspective concerning immune metabolic enzymes for understanding the immune system, and offer novel insight into future therapeutic interventions.
Arthroplasty Follow‐Up Pathways: A Qualitative Study of Current Practice and Healthcare Professionals' Attitudes and Motivations for Change
Authors: Hill Kate , Czoski‐Murray Carolyn , Smith Lindsay K. , Stone Martin , Conaghan Philip G. , Kingsbury Sarah R. 
Published: November 2024

ABSTRACTBackgroundThere is considerable diversity in arthroplasty follow‐up pathways. This qualitative study aimed to understand healthcare professionals' practice and attitude to follow‐up, their motivation for change and what evidence they considered before implementing new pathways.MethodsThe main UKSAFE study enroled 38 centres providing revision procedures across the United Kingdom. A purposive sample of professional leads and service managers was identified from site contacts. Individual interviews were conducted by telephone, transcribed verbatim and analysed using a theoretical framework derived from current evidence and the data collected in our previous studies.ResultsWe found that there had been a shift away from bringing patients back into the clinic for repeat follow‐up assessments, but that this was not universal, and some centres had long‐established care pathways that involved long‐term follow‐up. The way in which those services were provided might be different or have common features, but centres were likely to face common problems including large patient numbers and funding restraints.ConclusionThe reliability of newer prosthetics and surgical skill has influenced some changes by increasing confidence in a pathway which does not routinely provide long‐term follow‐up. Service commissioners also have a role to play in how follow‐up care pathways are configured, but scrutiny of the ratio of new to follow‐up appointments can put pressure on clinical staff to follow‐up only patients with identified clinical need. Virtual clinics can provide a service to patients and use scarce resources efficiently, but NHS IT systems that would be needed to support more remote working, for example, telemedicine and plans to collect PROMS data online from patients to assist with monitoring were not advanced.
Impact of Age in Single‐Level Versus Multilevel Airway Compromise: A Multi‐Institutional Review
Authors: Laohakittikul Chanticha , Khalsa Inderpreet Kaur , Rao Shambavi J. , Stockton Steven D. , Madden Lyndsay L. , Cates Daniel J. , Young VyVy N. 
Published: November 2024

AbstractObjectiveExamine the association between age and treatment outcomes in conditions causing single‐ versus multilevel airway restriction.Study DesignMulti‐institutional retrospective cohort study.SettingTertiary laryngology centers.MethodsParticipants included younger (18‐64 years) and geriatric (≥65 years) adults with posterior glottic stenosis (PGS), multilevel airway stenosis (MLAS), and bilateral vocal fold paralysis (BVFP). Subgroup demographics, comorbidities, type, and etiology of airway compromise were described. Associations between age and primary outcome variables (i.e., tracheostomy and decannulation rates, number of surgeries performed, time between surgeries, and change in quality‐of‐life patient‐reported outcome measures [PROMs]) were evaluated. Statistical analyses included independent t tests, χ2, Fisher's exact, or Mann‐Whitney tests.ResultsIn 158 patients [96 younger (30 PGS, 29 MLAS, 37 BVFP) and 62 geriatric (24 PGS, 9 MLAS, 29 BVFP)], age differences were not significant for gender (P = .990), tracheostomy placement (70% vs 66%, P = .629), or decannulation success (40% vs 24%, P = .091) in younger versus geriatric groups, respectively. In younger patients, MLAS was more common (30.2% vs 14.5%, P = .024), and BVFP patients were more likely to decannulate (50% vs 12%, P = .017). Geriatric patients were more likely to have a history of prior radiation (26% vs 10%, P = .016), stenosis due to malignancy (23% vs 9%, P = .022), and fewer overall surgeries (median 1 vs 3, P = .003). Median PROMs were comparable between age subgroups (P > .05).ConclusionYounger adults underwent more surgeries, but overall comorbidities, tracheostomy decannulation rates, and PROMs were comparable between groups. Age does not negatively impact treatment outcomes and should not be a deterrent in treatment decision‐making.