bluuebunny/crossref_metadata_2025_split huggingface dataset:
GENERATOR HEART FAILURE DataMart: An integrated framework for heart failure research
Authors: D’Amario Domenico , Laborante Renzo , Delvinioti Agni , Lenkowicz Jacopo , Iacomini Chiara , Masciocchi Carlotta , Luraschi Alice , Damiani Andrea , Rodolico Daniele , Restivo Attilio , Ciliberti Giuseppe , Paglianiti Donato Antonio , Canonico Francesco , Patarnello Stefano , Cesario Alfredo , Valentini Vincenzo , Scambia Giovanni , Crea Filippo 
Published: March 2023

BackgroundHeart failure (HF) is a multifaceted clinical syndrome characterized by different etiologies, risk factors, comorbidities, and a heterogeneous clinical course. The current model, based on data from clinical trials, is limited by the biases related to a highly-selected sample in a protected environment, constraining the applicability of evidence in the real-world scenario. If properly leveraged, the enormous amount of data from real-world may have a groundbreaking impact on clinical care pathways. We present, here, the development of an HF DataMart framework for the management of clinical and research processes.MethodsWithin our institution, Fondazione Policlinico Universitario A. Gemelli in Rome (Italy), a digital platform dedicated to HF patients has been envisioned (GENERATOR HF DataMart), based on two building blocks: 1. All retrospective information has been integrated into a multimodal, longitudinal data repository, providing in one single place the description of individual patients with drill-down functionalities in multiple dimensions. This functionality might allow investigators to dynamically filter subsets of patient populations characterized by demographic characteristics, biomarkers, comorbidities, and clinical events (e.g., re-hospitalization), enabling agile analyses of the outcomes by subsets of patients. 2. With respect to expected long-term health status and response to treatments, the use of the disease trajectory toolset and predictive models for the evolution of HF has been implemented. The methodological scaffolding has been constructed in respect of a set of the preferred standards recommended by the CODE-EHR framework.ResultsSeveral examples of GENERATOR HF DataMart utilization are presented as follows: to select a specific retrospective cohort of HF patients within a particular period, along with their clinical and laboratory data, to explore multiple associations between clinical and laboratory data, as well as to identify a potential cohort for enrollment in future studies; to create a multi-parametric predictive models of early re-hospitalization after discharge; to cluster patients according to their ejection fraction (EF) variation, investigating its potential impact on hospital admissions.ConclusionThe GENERATOR HF DataMart has been developed to exploit a large amount of data from patients with HF from our institution and generate evidence from real-world data. The two components of the HF platform might provide the infrastructural basis for a combined patient support program dedicated to continuous monitoring and remote care, assisting patients, caregivers, and healthcare professionals.
Causal effects of hypertension on risk of erectile dysfunction: A two-sample Mendelian randomization study
Authors: Wang Zheng , Wang Yunyun , Xiong Jiachao , Gan Xinxin , Bao Yewei , Jiang Aimin , Zhou Ye , Huangfu Zhao , Yang Yiren , Liu Zhiyong , Xia Demeng , Wang Linhui 
Published: March 2023

BackgroundErection dysfunction has been associated with hypertension in several epidemiological and observational studies. But the causal association between hypertension and erectile dysfunction requires further investigation.MethodsA two-sample Mendelian randomization (MR) was conducted to analyze the causal effect of hypertension on risk of erection dysfunction. Large-scale publicly available genome-wide association study data were used to estimate the putative causality between hypertension and risk of erectile dysfunction. A total of 67 independent single nucleotide polymorphisms were selected as instrumental variables. Inverse-variant weighted, maximum likelihood, weighted median, penalized weighted median, and MR-PRESSO approaches were utilized in MR analyses. Heterogeneity test, horizontal pleiotropy test, and leave-one-out method were used to prove the stability of the results.ResultsIn total, all P values were less than 0.05, demonstrating a positive causal link between hypertension and risk of erectile dysfunction in multiple MR methods, such as inverse-variant weighted (random and fixed effect) (OR 3.8315, 95% CI 2.3004–6.3817, P = 0.0085), maximum likelihood (OR 3.8877, 95% CI 2.3224–6.5081, P = 0.0085), weighted median (OR 4.9720, 95% CI 2.3645–10.4550, P = 0.0309), penalized weighted median (OR 4.9760, 95% CI 2.3201–10.6721, P = 0.0355), and MR-PRESSO (OR 3.6185, 95% CI 2.2387–5.8488, P = 0.0092). Sensitivity analysis detected no evidence of heterogeneity, pleiotropy, or outlier single nucleotide polymorphisms.ConclusionThe study revealed a positive causal link between the presence of hypertension and the risk of erectile dysfunction. More attention should be paid during the management of hypertension with the purpose of preventing erectile dysfunction or improving erectile function.
Identification of shared genetic architecture between non-alcoholic fatty liver disease and type 2 diabetes: A genome-wide analysis
Authors: Tan Yajing , He Qian , Chan Kei Hang Katie 
Published: March 2023

BackgroundThe incidence of complications of non-alcoholic fatty liver disease (NAFLD) and type 2 diabetes (T2D) has been increasing.MethodIn order to identify the shared genetic architecture of the two disease phenotypes of NAFLD and T2D, a European population-based GWAS summary and a cross-trait meta-analysis was used to identify significant shared genes for NAFLD and T2D. The enrichment of shared genes was then determined through the use of functional enrichment analysis to investigate the relationship between genes and phenotypes. Additionally, differential gene expression analysis was performed, significant differentially expressed genes in NAFLD and T2D were identified, genes that overlapped between those that were differentially expressed and cross-trait results were reported, and enrichment analysis was performed on the core genes that had been obtained in this way. Finally, the application of a bidirectional Mendelian randomization (MR) approach determined the causal link between NAFLD and T2D.ResultA total of 115 genes were discovered to be shared between NAFLD and T2D in the GWAS analysis. The enrichment analysis of these genes showed that some were involved in the processes such as the decomposition and metabolism of lipids, phospholipids, and glycerophospholipids. Additionally, through the use of differential gene expression analysis, 15 core genes were confirmed to be linked to both T2D and NAFLD. They were correlated with carcinoma cells and inflammation. Furthermore, the bidirectional MR identified a positive causal relationship between NAFLD and T2D.ConclusionOur study determined the genetic structure shared between NAFLD and T2D, offering a new reference for the genetic pathogenesis and mechanism of NAFLD and T2D comorbidities.
Application of vertebral body compression osteotomy in pedicle subtraction osteotomy on ankylosing spondylitis kyphosis: Finite element analysis and retrospective study
Authors: Yang Canchun , Zeng Ziliang , Yan Haolin , Wu Jionglin , Lv Xin , Zhang Di , Zhang Zhilei , Jiang Xu , Zhang Chi , Fu Guo , Peng Xiaoshuai , Wang Zheyu , Zhao Qiancheng , Li Wenpeng , Huang Renyuan , Wang Qiwei , Li Bo , Hu Xumin , Wang Peng , Gao Liangbin 
Published: March 2023

BackgroundAnkylosing spondylitis (AS) is a chronic inflammatory rheumatic disease, with pathological characteristics of bone erosion, inflammation of attachment point, and bone ankylosis. Due to the ossified intervertebral disc and ligament, pedicle subtraction osteotomy (PSO) is one of the mainstream surgeries of AS-related thoracolumbar kyphosis, but the large amount of blood loss and high risk of instrumental instability limit its clinical application. The purpose of our study is to propose a new transpedicular vertebral body compression osteotomy (VBCO) in PSO to reduce blood loss and improve stability.MethodsA retrospective analysis was performed on patients with AS-related thoracolumbar kyphosis who underwent one-level PSO in our hospital from February 2009 to May 2019. A total of 31 patients were included in this study; 6 received VBCO and 25 received eggshell vertebral body osteotomy. We collected demographic data containing gender and age at diagnosis. Surgical data contained operation time, estimated blood loss (EBL), and complications. Radiographic data contained pre-operative and follow-up sagittal parameters including chin brow-vertical angle (CBVA), global kyphosis (GK), thoracic kyphosis (TK), and lumbar lordosis (LL). A typical case with L2-PSO was used to establish a finite element model. The mechanical characteristics of the internal fixation device, vertebral body, and osteotomy plane of the two osteotomy models were analyzed under different working conditions.ResultsThe VBCO could provide comparable restoring of CBVA, GK, TK, and LL in the eggshell osteotomy procedure (all p &gt; 0.05). The VBCO significantly reduced EBL compared to those with eggshell osteotomy [800.0 ml (500.0–1,439.5 ml) vs. 1,455.5 ml (1,410.5–1,497.8 ml), p = 0.033]. Compared with the eggshell osteotomy, VBCO showed better mechanical property. For the intra-pedicular screw fixation, the VBCO group had a more average distributed and lower stress condition on both nails and connecting rod. VBCO had a flattened osteotomy plane than the pitted osteotomy plane of the eggshell group, showing a lower and more average distributed maximum stress and displacement of osteotomy plane.ConclusionIn our study, we introduced VBCO as an improved method in PSO, with advantages in reducing blood loss and providing greater stability. Further investigation should focus on clinical research and biomechanical analysis for the application of VBCO.
Title: Serious COVID-19 may have a causal relationship with myocardial injury: A Mendelian randomization study
Authors: Liu Mei Jia , Sun Xue Qing , Li Long Bo , Wang Guan , Shi Yong Feng 
Published: March 2023

Background: The association of coronavirus disease 2019 (COVID-19) with myocardial injury is not well known. This study explored the association between them using the Mendelian randomization (MR) method.Method: We obtained summary data from genome-wide association studies (GWAS) on myocardial injury and COVID-19 from public databases. Then, as tool variables, we chose single nucleotide polymorphisms associated with susceptibility and COVID-19 severity to investigate the causal relationship of COVID-19 with myocardial injury using inverse-variance weighting (IVW) as the primary approach. Finally, the reliability of the results was evaluated by performing sensitivity analyses.Results: As revealed by the IVW analyses, the seriously hospitalized patients with COVID-19 had causality with myocardial injury, with an β of 0.14 and 95% confidence interval (CI) of 0.03–0.25 (p = 0.01). The results showed that COVID-19 with severe respiratory symptoms positively affected myocardial injury (β = 0.11, 95% CI = 0.03–0.19; p = 0.005).Conclusion: According to this study, severe respiratory symptoms and hospitalization due to COVID-19 may increase the risk of myocardial injury.
An immune-related gene signature predicts the 28-day mortality in patients with sepsis
Authors: Peng Yaojun , Wu Qiyan , Liu Hongyu , Zhang Jinying , Han Qingru , Yin Fan , Wang Lingxiong , Chen Qi , Zhang Fei , Feng Cong , Zhu Haiyan 
Published: March 2023

IntroductionSepsis is the leading cause of death in intensive care units and is characterized by multiple organ failure, including dysfunction of the immune system. In the present study, we performed an integrative analysis on publicly available datasets to identify immune-related genes (IRGs) that may play vital role in the pathological process of sepsis, based on which a prognostic IRG signature for 28-day mortality prediction in patients with sepsis was developed and validated.MethodsWeighted gene co-expression network analysis (WGCNA), Cox regression analysis and least absolute shrinkage and selection operator (LASSO) estimation were used to identify functional IRGs and construct a model for predicting the 28-day mortality. The prognostic value of the model was validated in internal and external sepsis datasets. The correlations of the IRG signature with immunological characteristics, including immune cell infiltration and cytokine expression, were explored. We finally validated the expression of the three IRG signature genes in blood samples from 12 sepsis patients and 12 healthy controls using qPCR.ResultsWe established a prognostic IRG signature comprising three gene members (LTB4R, HLA-DMB and IL4R). The IRG signature demonstrated good predictive performance for 28-day mortality on the internal and external validation datasets. The immune infiltration and cytokine analyses revealed that the IRG signature was significantly associated with multiple immune cells and cytokines. The molecular pathway analysis uncovered ontology enrichment in myeloid cell differentiation and iron ion homeostasis, providing clues regarding the underlying biological mechanisms of the IRG signature. Finally, qPCR detection verified the differential expression of the three IRG signature genes in blood samples from 12 sepsis patients and 12 healthy controls.DiscussionThis study presents an innovative IRG signature for 28-day mortality prediction in sepsis patients, which may be used to facilitate stratification of risky sepsis patients and evaluate patients’ immune state.
CDetection.v2: One-pot assay for the detection of SARS-CoV-2
Authors: Wang Xinge , Chen Yangcan , Cheng Xuejia , Wang Si-Qi , Hu Yanping , Feng Yingmei , Jin Ronghua , Zhou Kangping , Liu Ti , Wang Jianxing , Pan Kai , Liu Bing , Xiang Jie , Wang Yanping , Zhou Qi , Zhang Ying , Pan Weiye , Li Wei 
Published: March 2023

IntroductionThe ongoing 2019 coronavirus disease pandemic (COVID-19), caused by severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) and its variants, is a global public health threat. Early diagnosis and identification of SARS-CoV-2 and its variants plays a critical role in COVID-19 prevention and control. Currently, the most widely used technique to detect SARS-CoV-2 is quantitative reverse transcription real-time quantitative PCR (RT-qPCR), which takes nearly 1 hour and should be performed by experienced personnel to ensure the accuracy of results. Therefore, the development of a nucleic acid detection kit with higher sensitivity, faster detection and greater accuracy is important.MethodsHere, we optimized the system components and reaction conditions of our previous detection approach by using RT-RAA and Cas12b.ResultsWe developed a Cas12b-assisted one-pot detection platform (CDetection.v2) that allows rapid detection of SARS-CoV-2 in 30 minutes. This platform was able to detect up to 5,000 copies/ml of SARS-CoV-2 without cross-reactivity with other viruses. Moreover, the sensitivity of this CRISPR system was comparable to that of RT-qPCR when tested on 120 clinical samples.DiscussionThe CDetection.v2 provides a novel one-pot detection approach based on the integration of RT-RAA and CRISPR/Cas12b for detecting SARS-CoV-2 and screening of large-scale clinical samples, offering a more efficient strategy for detecting various types of viruses.
Preliminary investigation and application of a modified objects memory test in perioperative cognitive evaluation
Authors: Chen Lanfeng , Gao Baobin , Yan Chaoyang , Wang Zhengzheng , Bi Yiqing , Chen Hongfu , Jin Haojie 
Published: March 2023

ObjectiveTo investigate the applicability of a modified verbal learning test redesigned from the memory subtest of the Syndrom Kurztest (SKT) in perioperative cognitive evaluation.MethodsPatients receiving elective herniorrhaphy and their accompanying family members (set as normal controls), 55–75 years old, were randomly divided into two groups. The two groups received the self-made objects memory test derived from the SKT (SMOT) SMOT or a traditional auditory verbal learning test (AVLT). The cognitive evaluation was administered at the bedside on the day before surgery and the second day after surgery.ResultsThe SMOT test was administered to 121 subjects, while 107 patients received the AVLT test. After confirming that there was no significant difference in cognitive function between patients and their family members, the results of the SMOT and AVLT tests were compared. The results showed that the “low-score” ratio of the SMOT was significantly lower than that of the AVLT test (P &lt; 0.05), and the influencing factors of the SMOT were less than those of the AVLT test. However, the learning effect of the SMOT was more significant (P &lt; 0.05).ConclusionThis study preliminarily confirms that the SMOT has better applicability to elderly Chinese individuals than AVLT in perioperative cognitive evaluation, but its learning effect should be noted.
Complement activation and increased anaphylatoxin receptor expression are associated with cortical grey matter lesions and the compartmentalised inflammatory response of multiple sclerosis
Authors: Evans Rhian , Watkins Lewis M. , Hawkins Kristen , Santiago Gabriella , Demetriou Constantinos , Naughton Michelle , Dittmer Marie , Rees Mark I. , Fitzgerald Denise , Morgan B. Paul , Neal James W. , Howell Owain W. 
Published: March 2023

BackgroundThe extent of cortical pathology is an important determinant of multiple sclerosis (MS) severity. Cortical demyelination and neurodegeneration are related to inflammation of the overlying leptomeninges, a more inflammatory CSF milieu and with parenchymal microglia and astroglia activation. These are all components of the compartmentalised inflammatory response. Compartmentalised inflammation is a feature of progressive MS, which is not targeted by disease modifying therapies. Complement is differentially expressed in the MS CSF and complement, and complement receptors, are associated with demyelination and neurodegeneration.MethodsTo better understand if complement activation in the leptomeninges is associated with underlying cortical demyelination, inflammation, and microglial activation, we performed a neuropathological study of progressive MS (n = 22, 14 females), neuroinflammatory (n = 8), and non-neurological disease controls (n = 10). We then quantified the relative extent of demyelination, connective tissue inflammation, complement, and complement receptor positive microglia/macrophages.ResultsComplement was elevated at the leptomeninges, subpial, and within and around vessels of the cortical grey matter. The extent of complement C1q immunoreactivity correlated with connective tissue infiltrates, whilst activation products C4d, Bb, and C3b associated with grey matter demyelination, and C3a receptor 1+ and C5a receptor 1+ microglia/macrophages closely apposed C3b labelled cells. The density of C3a receptor 1+ and C5a receptor 1+ cells was increased at the expanding edge of subpial and leukocortical lesions. C5a receptor 1+ cells expressed TNFα, iNOS and contained puncta immunoreactive for proteolipid protein, neurofilament and synaptophysin, suggesting their involvement in grey matter lesion expansion.InterpretationThe presence of products of complement activation at the brain surfaces, their association with the extent of underlying pathology and increased complement anaphylatoxin receptor positive microglia/macrophages at expanding cortical grey matter lesions, could represent a target to modify compartmentalised inflammation and cortical demyelination.
Long-term seizure outcome with the surgically remediable syndrome of frontal lobe epilepsy associated with superior frontal sulcus-related dysplasia
Authors: Xu Yan , Hu Wen-Han , Shao Xiao-Qiu , Ma Yan-Shan , Lou Lin , Zhang Kai , Zhang Jian-Guo 
Published: March 2023

ObjectiveTo assess the long-term outcome of the surgically remediable syndrome of frontal lobe epilepsy (FLE) associated with superior frontal sulcus (SFS)-related dysplasia.MethodsWe retrospectively reviewed the medical charts and surgical features of 31 patients with drug-resistant frontal lobe epilepsy in our centers between 2016 and 2018. All patients underwent surgical resection. According to the epileptogenic zone (EZ), localization and resection extent were classified as (1) pure SFS group (PS group), (2) associated SFS group (AS group), and (3) no SFS group (NS group). The general characteristics, neuroradiological findings, morbidity, pathology, and long-term seizure outcome after surgery were analyzed to extract the potential value of the surgery for SFS-related dysplasia.ResultsOf 31 patients with FLE who underwent epilepsy surgery, 15 patients (nine men) were included PS group, five patients (five men) in the AS group, and 11 patients (eight men) in the NS group. Eleven patients detected abnormal focal signals in the presurgical MRI. Six patients in the PS group demonstrated the suspected focal cortical dysplasia (FCD) in the SFS detected with MRI. All patients demonstrated focal abnormal hypometabolism foci in the PET-MR co-registration. Twenty-five patients (80.6%) were seizure-free since surgery, including all 15 patients (100%) of the PS group, three in five patients (60%) of the AS group, and seven in 11 patients (63.6%) of the NS group. The difference in outcome between different groups was significant (p = 0.004, PS vs. AS group; p = 0.005, PS vs. NS group). As of the last follow-up (mean 66.2 ± 9.7months), 25 patients (80.6%) were seizure-free since surgery (Engel's class I). In addition, antiseizure medication was withdrawn in 19 patients (61.3%). Histologic examination of resected specimens revealed FCD in all 31 patients. The percentage of FCD II type was 100, 60, and 63.6% in the three different groups, respectively.ConclusionSFS-related dysplasia is a neuropathologic entity with a favorable postoperative outcome. FCD II is the most common type of SFS-related dysplasia. FDG-PET co-registered with MRI should be performed in patients with suspected SFS-related dysplasia, since it may depict areas of hypometabolism suggestive of dysplasia in the absence of MRI abnormalities.