bluuebunny/crossref_metadata_2025_split huggingface dataset:
Unusual adult-onset cardiac rhabdomyomas in tuberous sclerosis complex: a case report
Authors: Nati-Castillo H. A. , Quintero Juan Manuel , Molina Oswaldo Aguilar , Arias-Intriago Marlon , Melgar Muñoz Fernando P. , Izquierdo-Condoy Juan S. 
Published: July 2024

BackgroundTuberous sclerosis complex is a genetic neurocutaneous autosomal dominant syndrome, characterized by the development of multiple benign tumors (hamartomas) affecting various systems. Heart-benign tumors that result from the complex are called cardiac rhabdomyomas. Unlike hamartomas that occur in other organs, cardiac rhabdomyomas are most prevalent in infants and very young children with tuberous sclerosis complex. We present a case of a young adult with tuberous sclerosis who had an unusually late diagnosis of cardiac rhabdomyomas.Case reportA 22-year-old male patient of Afro-descendant, diagnosed with tuberous sclerosis complex in childhood, presented with refractory epilepsy and was treated only with lacosamide. The patient came to medical consultation due to a recent history of episodic, persistent chest pain in the sternal region, associated with physical effort. Echocardiography revealed a non-dilated left ventricle, with several rounded masses of high echogenicity without pedicles at the apical level, the largest measuring 14 × 11 mm, consistent with cardiac rhabdomyomas.ConclusionCardiac rhabdomyomas rarely develop in adulthood for individuals with tuberous sclerosis. These late-onset cases can exhibit various symptoms, from simple to complex presentations. Regular clinical checkups are essential for adults with tuberous sclerosis complex.
Toxin-antitoxin system gene mutations driving Mycobacterium tuberculosis transmission revealed by whole genome sequencing
Authors: Hou Yawei , Li Yifan , Tao Ningning , Kong Xianglong , Li Yameng , Liu Yao , Li Huaichen , Wang Zhenguo 
Published: July 2024

BackgroundThe toxin-antitoxin (TA) system plays a vital role in the virulence and pathogenicity of Mycobacterium tuberculosis (M. tuberculosis). However, the regulatory mechanisms and the impact of gene mutations on M. tuberculosis transmission remain poorly understood.ObjectiveTo investigate the influence of gene mutations in the toxin-antitoxin system on M. tuberculosis transmission dynamics.MethodWe performed whole-genome sequencing on the analyzed strains of M. tuberculosis. The genes associated with the toxin-antitoxin system were obtained from the National Center for Biotechnology Information (NCBI) Gene database. Mutations correlating with enhanced transmission within the genes were identified by using random forest, gradient boosting decision tree, and generalized linear mixed models.ResultsA total of 13,518 M. tuberculosis isolates were analyzed, with 42.29% (n = 5,717) found to be part of genomic clusters. Lineage 4 accounted for the majority of isolates (n = 6488, 48%), followed by lineage 2 (n = 5133, 37.97%). 23 single nucleotide polymorphisms (SNPs) showed a positive correlation with clustering, including vapB1 G34A, vapB24 A76C, vapB2 T171C, mazF2 C85T, mazE2 G104A, vapB31 T112C, relB T226A, vapB11 C54T, mazE5 T344C, vapB14 A29G, parE1 (C103T, C88T), and parD1 C134T. Six SNPs, including vapB6 A29C, vapB31 T112C, parD1 C134T, vapB37 G205C, Rv2653c A80C, and vapB22 C167T, were associated with transmission clades across different countries. Notably, our findings highlighted the positive association of vapB6 A29C, vapB31 T112C, parD1 C134T, vapB37 G205C, vapB19 C188T, and Rv2653c A80C with transmission clades across diverse regions. Furthermore, our analysis identified 32 SNPs that exhibited significant associations with clade size.ConclusionOur study presents potential associations between mutations in genes related to the toxin-antitoxin system and the transmission dynamics of M. tuberculosis. However, it is important to acknowledge the presence of confounding factors and limitations in our study. Further research is required to establish causation and assess the functional significance of these mutations. These findings provide a foundation for future investigations and the formulation of strategies aimed at controlling TB transmission.
Progressive remodeling of structural networks following surgery for operculo-insular epilepsy
Authors: Obaid Sami , Guberman Guido I. , St-Onge Etienne , Campbell Emma , Edde Manon , Lamsam Layton , Bouthillier Alain , Weil Alexander G. , Daducci Alessandro , Rheault François , Nguyen Dang K. , Descoteaux Maxime 
Published: July 2024

IntroductionOperculo-insular epilepsy (OIE) is a rare condition amenable to surgery in well-selected cases. Despite the high rate of neurological complications associated with OIE surgery, most postoperative deficits recover fully and rapidly. We provide insights into this peculiar pattern of functional recovery by investigating the longitudinal reorganization of structural networks after surgery for OIE in 10 patients.MethodsStructural T1 and diffusion-weighted MRIs were performed before surgery (t0) and at 6 months (t1) and 12 months (t2) postoperatively. These images were processed with an original, comprehensive structural connectivity pipeline. Using our method, we performed comparisons between the t0 and t1 timepoints and between the t1 and t2 timepoints to characterize the progressive structural remodeling.ResultsWe found a widespread pattern of postoperative changes primarily in the surgical hemisphere, most of which consisted of reductions in connectivity strength (CS) and regional graph theoretic measures (rGTM) that reflect local connectivity. We also observed increases in CS and rGTMs predominantly in regions located near the resection cavity and in the contralateral healthy hemisphere. Finally, most structural changes arose in the first six months following surgery (i.e., between t0 and t1).DiscussionTo our knowledge, this study provides the first description of postoperative structural connectivity changes following surgery for OIE. The ipsilateral reductions in connectivity unveiled by our analysis may result from the reversal of seizure-related structural alterations following postoperative seizure control. Moreover, the strengthening of connections in peri-resection areas and in the contralateral hemisphere may be compatible with compensatory structural plasticity, a process that could contribute to the recovery of functions seen following operculo-insular resections for focal epilepsy.
Identification of genetic susceptibility for Chinese migraine with depression using machine learning
Authors: An Xingkai , Zhao Shanshan , Fang Jie , Li Qingfang , Yue Cen , Jing Chuya , Zhang Yidan , Zhang Jiawei , Zhou Jie , Chen Caihong , Qu Hongli , Ma Qilin , Lin Qing 
Published: July 2024

BackgroundMigraine is a common primary headache that has a significant impact on patients’ quality of life. The co-occurrence of migraine and depression is frequent, resulting in more complex symptoms and a poorer prognosis. The evidence suggests that depression and migraine comorbidity share a polygenic genetic background.ObjectiveThe aim of this study is to identify related genetic variants that contribute to genetic susceptibility to migraine with and without depression in a Chinese cohort.MethodsIn this case-control study, 263 individuals with migraines and 223 race-matched controls were included. Eight genetic polymorphism loci selected from the GWAS were genotyped using Sequenom’s MALDI-TOF iPLEX platform.ResultsIn univariate analysis, ANKDD1B rs904743 showed significant differences in genotype and allele distribution between migraineurs and controls. Furthermore, a machine learning approach was used to perform multivariate analysis. The results of the Random Forest algorithm indicated that ANKDD1B rs904743 was a significant risk factor for migraine susceptibility in China. Additionally, subgroup analysis by the Boruta algorithm showed a significant association between this SNP and migraine comorbid depression. Migraineurs with depression have been observed to have worse scores on the Beck Anxiety Inventory (BAI) and the Migraine Disability Assessment Scale (MIDAS).ConclusionThe study indicates that there is an association between ANKDD1B rs904743 and susceptibility to migraine with and without depression in Chinese patients.
The impacts of sex and the 5xFAD model of Alzheimer’s disease on the sleep and spatial learning responses to feeding time
Authors: Campbell Katrina J. , Jiang Peng , Olker Christopher , Lin Xuanyi , Kim Sarah Y. , Lee Christopher J. , Song Eun Joo , Turek Fred W. , Vitaterna Martha Hotz 
Published: July 2024

IntroductionThe relationships between the feeding rhythm, sleep and cognition in Alzheimer’s disease (AD) are incompletely understood, but meal time could provide an easy-to-implement method of curtailing disease-associated disruptions in sleep and cognition. Furthermore, known sex differences in AD incidence could relate to sex differences in circadian rhythm/sleep/cognition interactions.MethodsThe 5xFAD transgenic mouse model of AD and non-transgenic wild-type controls were studied. Both female and male mice were used. Food access was restricted each day to either the 12-h light phase (light-fed groups) or the 12-h dark phase (dark-fed groups). Sleep (electroencephalographic/electromyographic) recording and cognitive behavior measures were collected.ResultsThe 5xFAD genotype reduces NREM and REM as well as the number of sleep spindles. In wild-type mice, light-fed groups had disrupted vigilance state amounts, characteristics, and rhythms relative to dark-fed groups. These feeding time differences were reduced in 5xFAD mice. Sex modulates these effects. 5xFAD mice display poorer spatial memory that, in female mice, is curtailed by dark phase feeding. Similarly, female 5xFAD mice have decreased anxiety-associated behavior. These emotional and cognitive measures are correlated with REM amount.DiscussionOur study demonstrates that the timing of feeding can alter many aspects of wake, NREM and REM. Unexpectedly, 5xFAD mice are less sensitive to these feeding time effects. 5xFAD mice demonstrate deficits in cognition which are correlated with REM, suggesting that this circadian-timed aspect of sleep may link feeding time and cognition. Sex plays an important role in regulating the impact of feeding time on sleep and cognition in both wild-type and 5xFAD mice, with females showing a greater cognitive response to feeding time than males.
A bibliometric analysis and visualization of normal pressure hydrocephalus
Authors: Chang Tengwu , Huang Xiaoyuan , Zhang Xu , Li JinYong , Bai Wenju , Wang Jichao 
Published: July 2024

BackgroundNormal pressure hydrocephalus (NPH) has drawn an increasing amount of attention over the last 20 years. At present, there is a shortage of intuitive analysis on the trends in development, key contributors, and research hotspots topics in the NPH field. This study aims to analyze the evolution of NPH research, evaluate publications both qualitatively and quantitatively, and summarize the current research hotspots.MethodsA bibliometric analysis was conducted on data retrieved from the Web of Science Core Collection (WoSCC) database between 2003 and 2023. Quantitative assessments were conducted using bibliometric analysis tools such as VOSviewer and CiteSpace software.ResultsA total of 2,248 articles published between 2003 and 2023 were retrieved. During this period, the number of publications steadily increased. The United States was the largest contributor. The University of Gothenburg led among institutions conducting relevant research. Eide P. K. was the most prolific author. The Journal of Neurosurgery is the leading journal on NPH. According to the analysis of the co-occurrence of keywords and co-cited references, the primary research directions identified were pathophysiology, precise diagnosis, and individualized treatment. Recent research hotspots have mainly focused on epidemiology, the glymphatic system, and CSF biomarkers.ConclusionThe comprehensive bibliometric analysis of NPH offers insights into the main research directions, highlights key countries, contributors, and journals, and identifies significant research hotspots. This information serves as a valuable reference for scholars to further study NPH.
No causal relationship between serum vitamin D levels and alcoholic liver disease: a two-sample bidirectional Mendelian randomization study
Authors: Wu Huan , Wu Long , Zhang Quan , Li Can , Li Hai-yang , Zhang Bao-fang 
Published: July 2024

BackgroundNumerous observational studies have presented an association between Vitamin D (VD) and Alcoholic Liver Disease (ALD). However, sufficient evidence from Randomized Controlled Trials (RCTs) substantiating this correlation is scarce, thus leaving the causality of this relationship ambiguous. To overcome the shortcomings of traditional observational studies, we performed a two-sample bidirectional Mendelian randomization (MR) analysis to ascertain the causal relationship between VD and ALD.MethodsWe utilized summary statistics datasets from Genome-Wide Association Studies (GWAS) for VD and ALD. We selected genetic instruments that measure circulating VD levels (n = 64,979), and retrieved ALD statistics from GWASs, inclusive of 1,416 cases and 217,376 healthy controls, while excluding chronic liver diseases such as nonalcoholic fatty liver disease, toxic liver disease, and viral hepatitis. Subsequent, MR analyses were performed to obtain effect estimates using inverse variance weighted (IVW) random effect models. Cochran’s Q statistic and MR-Egger regression intercept analyses were used to assess pleiotropy. Sensitivity analyses using the MR Egger, weighted median, simple mode, and weighted mode methods were also performed. Leave-one-out analysis was used to identify SNPs with potential effect. Reverse MR analysis was also performed.ResultsIn IVW, our MR analysis incorporated 21 independent SNPs, circulating VD levels had no causal effect on ALD [OR = 0.624 (0.336–1.160), p = 0.136] and ALD had no causal effect on circulating VD [OR = 0.997 (0.986–1.008), p = 0.555]. No heterogeneity or pleiotropy was observed (p &gt; 0.05). Other MR methods also agreed with IVW results.ConclusionThis study provides the causal relationship between genetically predicted circulating Vitamin D levels and ALD and provides new insights into the genetics of ALD.
Safety assessment of neurokinin-1 receptor antagonist: real-world adverse event analysis from the FAERS database
Authors: Yang Chuanli , Xu Pengyang , Wu Teng , Fan Yunhe , Li Qingqing , Zhang Jijun , Shen Xiaobing , Dong Xiushan 
Published: July 2024

BackgroundAprepitant, fosaprepitant, and netupitant are three common neurokinin-1 receptor antagonists (NK-1RAs) used to prevent chemotherapy-induced nausea and vomiting, following highly or moderately emetogenic chemotherapy. Understanding their different adverse event (AE) profiles may help clinicians make appropriate treatment decisions.MethodsAll data collected from the FDA Adverse Event Reporting System (FAERS) database from the first quarter of 2004 to the fourth quarter of 2023 underwent disproportionality analysis to detect, evaluate, and compare AE signals of the three NK-1RAs.ResultsA total of 3,904, 1,123, and 243 AE reports related to aprepitant, fosaprepitant, and netupitant, respectively, were extracted from the FAERS database. Of these, more than 50% of respondents were female, and most of them were aged 45–65 years. General disorders and administration-site conditions, and gastrointestinal disorders were the most frequent signals in the system organ class of the three NK-1RA drugs. In addition, aprepitant was strongly associated with joint deposit (ROR = 26.27) and fosaprepitant was closely related to seizure-like phenomena (ROR = 26.90); two preferred terms (PTs) were not mentioned in the manual. Statistically, netupitant was likely to induce death (N = 63, ROR = 8.78, 95% CI: 6.75–11.42). Additionally, neutropenic colitis, colitis, and stomatitis were unique to netupitant. Furthermore, the AE profiles of the three NK-1RA drugs were different by gender.ConclusionThe AE profiles for aprepitant, fosaprepitant, and netupitant were different. In addition to paying attention to common AEs, clinicians need to pay attention to new emerging AEs, such as joint deposit, seizure-like phenomena, neutropenic colitis, colitis, and stomatitis, regarding the three NK-1RA drugs. Furthermore, the AE compositions of the three NK-1RA drugs were different in different genders, and clinicians should take these factors into account when selecting NK-1RAs for CINV treatment.
Status and hotspot analysis of Qingfei Paidu Decoction for the prevention and treatment of COVID-19 based on bibliometric analysis
Authors: Zhang Huifang , Liu Yang , Shang Xiyu , Cao Yuqing , Li Jiajia , Chen Guangkun , Ji Xinyu , Zhang Lei , Fan Yipin , Ma Yan 
Published: July 2024

BackgroundQingfei Paidu Decoction (QFPDD) has played an important role in the prevention and treatment of COVID-19 infection in China. The present study aims to perform an econometric analysis and visualization of the literature on the treatment of COVID-19 with QFPDD in the Chinese databases and English databases.MethodsSix databases including such as Chinese databases CNKI, VIP, CBM, WANFANG as well as English databases PubMed, Web of Science were searched for publications related to the prevention and treatment of COVID-19 with QFPDD. The institutions, authors, keywords of each publication were cisualized using the software of CiteSpace.ResultsA total of 187 literature on the prevention and treatment of novel coronavirus infection with QFPDD were included, of which 145 (77.5%) were in Chinese and 42 (22.5%) were in English. Those publications were written by 926 authors from 383 institutions. There were 78 theoretical studies (41.7%), 63 clinical studies (33.7%), and 46 basic studies (24.6%). The cooperative institutions with the core of “Institute of Basic Research in Clinical Medicine, China Academy of Chinese Medical Sciences” and “Shanghai University of Chinese Medicine Cross Academy of Science” have been formed, and two core teams with “Wang Yanping” and “Zhang Weidong” have been formed. The keyword analysis showed that the research mainly focuses on pathologic pathogenesis, clinical efficacy, adverse reactions, integrated Chinese and western medicine therapy, network pharmacology research.ConclusionQFPDD has attracted worldwide attention, mechanism research and clinical research may become a future development trend. Therefore, in-depth basic research and clinical studies with large samples and multi-center cooperation should be carried out to provide high-level evidence-based evidence for the prevention and treatment of COVID-19 with QFPDD.
The galectin-3 inhibitor selvigaltin reduces liver inflammation and fibrosis in a high fat diet rabbit model of metabolic-associated steatohepatitis
Authors: Comeglio Paolo , Guarnieri Giulia , Filippi Sandra , Cellai Ilaria , Acciai Gabriele , Holyer Ian , Zetterberg Fredrik , Leffler Hakon , Kahl-Knutson Barbro , Sarchielli Erica , Morelli Annamaria , Maggi Mario , Slack Robert J. , Vignozzi Linda 
Published: July 2024

IntroductionGalectin-3 is a pro-fibrotic β-galactoside binding lectin highly expressed in fibrotic liver and implicated in hepatic fibrosis. Selvigaltin (previously known as GB1211) is a novel orally active galectin-3 small molecule inhibitor that has high affinity for galectin-3 (human KD = 25 nM; rabbit KD = 12 nM) and high oral bioavailability in rabbits and man. In this study the efficacy of selvigaltin was investigated in a high fat diet (HFD) rabbit model of metabolic-associated steatohepatitis (MASH).MethodsMale New Zealand White rabbits were individually caged under standard conditions in a temperature and humidity-controlled room on a 12 h light/darkness cycle. After 1 week of regular diet (RD), rabbits were randomly assigned for 8 or 12 weeks to different groups: RD/vehicle, RD/selvigaltin, HFD (8 weeks), HFD/vehicle and HFD/selvigaltin (0.3, 1.0, 5.0 or 30 mg/kg selvigaltin with vehicle/selvigaltin p.o. dosed therapeutically q.d. 5 days per week from week 9 or 12). Liver inflammation, steatosis, ballooning, and fibrosis was measured via blood metabolic markers, histomorphological evaluation [Oil Red O, Giemsa, Masson’s trichome, picrosirius red (PSR) and second harmonic generation (SHG)], and mRNA and protein expression.ResultsSteatosis, inflammation, ballooning, and fibrosis were all increased from RD to HFD/vehicle groups. Selvigaltin demonstrated target engagement by significantly decreasing galectin-3 levels in the liver as measured via immunohistochemistry and mRNA analysis. Selvigaltin dose-dependently reduced biomarkers of liver function (AST, ALT, bilirubin), inflammation (cells foci), and fibrosis (PSR, SHG), as well as decreasing the mRNA and protein expression of several key inflammation and fibrosis biomarkers (e.g., IL6, TGFβ3, SNAI2, collagen). Doses of 1.0 or 5.0 mg/kg demonstrated consistent efficacy across most biological endpoints supporting the current clinical doses of selvigaltin being investigated in liver disease.DiscussionSelvigaltin significantly reduced hepatic inflammation and fibrosis in an HFD rabbit model of MASH following therapeutic dosing for 4 weeks in a dose-dependent manner. These data support the human selvigaltin dose of 100 mg b.i.d. that has been shown to reduce key liver biomarkers during a clinical study in liver cirrhosis.
Using an Instagram campaign to influence knowledge, subjective norms, perceived behavioral control, and behavioral intentions for sustainable behaviors
Authors: Varni Alexander , Thai Chan L. , Jamaleddine Sandra 
Published: July 2024

IntroductionClimate change poses one of the most pervasive threats to the planet today. Intervention is required to promote pro-environmental behaviors among individuals to curb its effects. Borrowing several constructs from the Theory of Planned Behavior, we designed and evaluated a campaign, delivered primarily through Instagram, to shift sustainability-related cognitions and behaviors among university students.MethodsAn online survey was distributed to undergraduate students at a Northern California university and collected responses from 1,552 participants.ResultsComparing students who self-reported exposure to the campaign with those who were not exposed, students who observed the campaign materials had more knowledge about (p &lt; .001), greater perceived social norms about (p &lt; .001), and greater intentions to perform sustainable behaviors (p &lt; .001). There were also increases in sustainable behaviors during the campaign, compared to the previous academic term.DiscussionImplementing campaigns inspired by behavior change theories may be one viable strategy to increase individual sustainable behaviors for climate change mitigation.
Personality factors and pandemic-related behaviors
Authors: Williamson Jessica 
Published: July 2024

PurposeThe purpose of the current study was to determine whether there are personality differences (the HEXACO model, narcissism, sadism, compassion for others) in mask-wearing, social distancing, and hoarding.FindingsThose who always wore masks were significantly higher in compassion for others and significantly lower in sadism compared to those who did not always wear masks. Those who always socially distanced (compared to those who did not) were significantly higher in openness, compassion for others, and conscientiousness. Those who hoarded were significantly lower in agreeableness than those who did not hoard.ConclusionPerhaps physicians may use information to boost states of altruistic-type traits (agreeableness, compassion for others) while educating patients during visits in order to increase the likelihood of receiving vaccinations or booster shots.