bluuebunny/crossref_metadata_2025_split huggingface dataset:
Human phenotype ontology annotation and cluster analysis for pulmonary atresia to unravel clinical outcomes
Authors: Shu Bingyan , Shen Huayan , Shao Xinyang , Luo Fengming , Li Tianjiao , Zhou Zhou 
Published: July 2022

BackgroundPulmonary atresia (PA) is a heterogeneous congenital heart defect and ventricular septal defect (VSD) is the most vital factor for the conventional classification of PA patients. The simple dichotomy could not fully describe the cardiac morphologies and pathophysiology in such a complex disease. We utilized the Human Phenotype Ontology (HPO) database to explore the phenotypic patterns of PA and the phenotypic influence on prognosis.MethodsWe recruited 786 patients with diagnoses of PA between 2008 and 2016 at Fuwai Hospital. According to cardiovascular phenotypes of patients, we retrieved 52 HPO terms for further analyses. The patients were classified into three clusters based on unsupervised hierarchical clustering. We used Kaplan–Meier curves to estimate survival, the log-rank test to compare survival between clusters, and univariate and multivariate Cox proportional hazards regression modeling to investigate potential risk factors.ResultsAccording to HPO term distribution, we observed significant differences of morphological abnormalities in 3 clusters. We defined cluster 1 as being associated with Tetralogy of Fallot (TOF), VSD, right ventricular hypertrophy (RVH), and aortopulmonary collateral arteries (ACA). ACA was not included in the cluster classification because it was not an HPO term. Cluster 2 was associated with hypoplastic right heart (HRH), atrial septal defect (ASD) and tricuspid disease as the main morphological abnormalities. Cluster 3 presented higher frequency of single ventricle (SV), dextrocardia, and common atrium (CA). The mortality rate in cluster 1 was significantly lower than the rates in cluster 2 and 3 (p = 0.04). Multivariable analysis revealed that abnormal atrioventricular connection (AAC, p = 0.011) and persistent left superior vena cava (LSVC, p = 0.003) were associated with an increased risk of mortality.ConclusionsOur study reported a large cohort with clinical phenotypic, surgical strategy and long time follow-up. In addition, we provided a precise classification and successfully risk stratification for patients with PA.
Automated risk assessment of newly detected atrial fibrillation poststroke from electronic health record data using machine learning and natural language processing
Authors: Sung Sheng-Feng , Sung Kuan-Lin , Pan Ru-Chiou , Lee Pei-Ju , Hu Ya-Han 
Published: July 2022

BackgroundTimely detection of atrial fibrillation (AF) after stroke is highly clinically relevant, aiding decisions on the optimal strategies for secondary prevention of stroke. In the context of limited medical resources, it is crucial to set the right priorities of extended heart rhythm monitoring by stratifying patients into different risk groups likely to have newly detected AF (NDAF). This study aimed to develop an electronic health record (EHR)-based machine learning model to assess the risk of NDAF in an early stage after stroke.MethodsLinked data between a hospital stroke registry and a deidentified research-based database including EHRs and administrative claims data was used. Demographic features, physiological measurements, routine laboratory results, and clinical free text were extracted from EHRs. The extreme gradient boosting algorithm was used to build the prediction model. The prediction performance was evaluated by the C-index and was compared to that of the AS5F and CHASE-LESS scores.ResultsThe study population consisted of a training set of 4,064 and a temporal test set of 1,492 patients. During a median follow-up of 10.2 months, the incidence rate of NDAF was 87.0 per 1,000 person-year in the test set. On the test set, the model based on both structured and unstructured data achieved a C-index of 0.840, which was significantly higher than those of the AS5F (0.779, p = 0.023) and CHASE-LESS (0.768, p = 0.005) scores.ConclusionsIt is feasible to build a machine learning model to assess the risk of NDAF based on EHR data available at the time of hospital admission. Inclusion of information derived from clinical free text can significantly improve the model performance and may outperform risk scores developed using traditional statistical methods. Further studies are needed to assess the clinical usefulness of the prediction model.
Quantitative MRI evaluation of articular cartilage in patients with meniscus tear
Authors: Chen Enqi , Hou Wenjing , Wang Hu , Li Jing , Lin Yangjing , Liu He , Du Mingshan , Li Lian , Wang Xianqi , Yang Jing , Yang Rui , Zhou Changru , Chen Pinzhen , Zeng Meng , Yao Qiandong , Chen Wei 
Published: July 2022

PurposeThe aim of this study was to assess quantitatively articular cartilage volume, thickness, and T2 value alterations in meniscus tear patients.Materials and methodsThe study included 32 patients with meniscus tears (17 females, 15 males; mean age: 40.16 ± 11.85 years) and 24 healthy controls (12 females; 12 males; mean age: 36 ± 9.14 years). All subjects were examined by 3 T magnetic resonance imaging (MRI) with 3D dual-echo steady-state (DESS) and T2 mapping images. All patients underwent diagnostic arthroscopy and treatment. Cartilage thickness, cartilage volume and T2 values of 21 subregions of knee cartilage were measured using the prototype KneeCaP software (version 2.1; Siemens Healthcare, Erlangen, Germany). Mann-Whitney-U tests were utilized to determine if there were any significant differences among subregional articular cartilage volume, thickness and T2 value between patients with meniscus tear and the control group.ResultsThe articular cartilage T2 values in all subregions of the femur and tibia in the meniscus tear group were significantly higher (p&lt; 0.05) than in the healthy control group. The cartilage thickness of the femoral condyle medial, femur trochlea, femur condyle lateral central, tibia plateau medial anterior and patella facet medial inferior in the meniscus tear group were slightly higher than in the control group (p&lt; 0.05). In the femur trochlea medial, patella facet medial inferior, tibia plateau lateral posterior and tibia plateau lateral central, there were significant differences in relative cartilage volume percentage between the meniscus tear group and the healthy control group (p&lt; 0.05). Nineteen patients had no cartilage abnormalities (Grade 0) in the meniscus tear group, as confirmed by arthroscopic surgery, and their T2 values in most subregions were significantly higher (p&lt; 0.05) than those of the healthy control group.ConclusionThe difference in articular cartilage indexes between patients with meniscus tears and healthy people without such tears can be detected by using quantitative MRI. Quantitative T2 values enable early and sensitive detection of early cartilage lesions.
Crohn’s disease recurrence updates: first surgery vs. surgical relapse patients display different profiles of ileal microbiota and systemic microbial-associated inflammatory factors
Authors: Russo Edda , Cinci Lorenzo , Di Gloria Leandro , Baldi Simone , D’Ambrosio Mario , Nannini Giulia , Bigagli Elisabetta , Curini Lavinia , Pallecchi Marco , Andrea Arcese Donato , Scaringi Stefano , Malentacchi Cecilia , Bartolucci Gianluca , Ramazzotti Matteo , Luceri Cristina , Amedei Amedeo , Giudici Francesco 
Published: July 2022

Background and aimsCrohn’s disease (CD) pathogenesis is still unclear. Remodeling in mucosal microbiota and systemic immunoregulation may represent an important component in tissue injury. Here, we aim to characterize the ileal microbiota in both pathological and healthy settings and to evaluate the correlated systemic microbial-associated inflammatory markers comparing first-time surgery and relapse clinical conditions.MethodsWe enrolled 28 CD patients at surgery; we collected inflamed and non-inflamed mucosa tissues and blood samples from each patient. Bacterial wall adherence was observed histologically, while its composition was assessed through amplicon sequencing of the 16S rRNA gene. In addition, we evaluated the systemic microRNA (miRNA) using quantitative real-time PCR amplification and free fatty acids (FFAs) using gas chromatography–mass spectroscopy.ResultsThe total number of mucosal adherent microbiota was enriched in healthy compared to inflamed mucosa. In contrast, the phylum Tenericutes, the family Ruminococcaceae, and the genera Mesoplasma and Mycoplasma were significantly enriched in the pathological setting. Significant microbiota differences were observed between the relapse and first surgery patients regarding the families Bacillaceae 2 and Brucellaceae and the genera Escherichia/Shigella, Finegoldia, Antrobacter, Gemmatimonas, Moraxella, Anoxibacillus, and Proteus. At the systemic level, we observed a significant downregulation of circulating miR-155 and miR-223, as well as 2-methyl butyric, isobutyric, and hexanoic (caproic) acids in recurrence compared to the first surgery patients. In addition, the level of hexanoic acid seems to act as a predictor of recurrence risk in CD patients (OR 18; 95% confidence interval 1.24–261.81; p = 0.006).ConclusionsWe describe a dissimilarity of ileal microbiota composition comparing CD and healthy settings, as well as systemic microbial-associated inflammatory factors between first surgery and surgical relapse. We suggest that patterns of microbiota, associated with healthy ileal tissue, could be involved in triggering CD recurrence. Our findings may provide insight into the dynamics of the gut microbiota–immunity axis in CD surgical recurrence, paving the way for new diagnostics and therapeutics aimed not only at reducing inflammation but also at maintaining a general state of eubiosis in healthy tissue.
A novel aGAPSS-based nomogram for the prediction of ischemic stroke in patients with antiphospholipid syndrome
Authors: Song Xiaodong , Fan Yangyi , Jia Yuan , Li Gongming , Liu Meige , Xu Yicheng , Zhang Jun , Li Chun 
Published: July 2022

BackgroundIschemic stroke (IS) is the most common and life-threatening arterial manifestation of antiphospholipid syndrome (APS). It is related to high mortality and severe permanent disability in survivors. Thus, it is essential to identify patients with APS at high risk of IS and adopt individual-level preventive measures. This study was conducted to identify risk factors for IS in patients with APS and to develop a nomogram specifically for IS prediction in these patients by combining the adjusted Global Anti-Phospholipid Syndrome Score (aGAPSS) with additional clinical and laboratory data.MethodsA total of 478 consecutive patients with APS were enrolled retrospectively. All patients were randomly assigned to the training and validation cohorts. Univariate and multivariate binary logistic analyses were conducted to identify predictors of IS in the training cohort. Then, a nomogram was developed based on these predictors. The predictive performance of the nomogram for the training and validation cohorts was evaluated by determining areas under the receiver operating characteristic curve (AUROC) and creating calibration plots. A decision curve analysis (DCA) was conducted to compare the potential net benefits of the nomogram with those of the aGAPSS.ResultsDuring a mean follow-up period of 2.7 years, 26.9% (129/478) of the patients were diagnosed with IS. Binary logistic regression analysis revealed that five risk factors were independent clinical predictors of IS: age (P &lt; 0.001), diabetes (P = 0.030), hyperuricemia (P &lt; 0.001), the platelet count (P = 0.001), and the aGAPSS (P = 0.001). These predictors were incorporated into the nomogram, named the aGAPSS-IS. The nomogram showed satisfactory performance in the training [AUROC = 0.853 (95% CI, 0.802–0.896] and validation [AUROC = 0.793 (95% CI, 0.737–0.843)] cohorts. Calibration curves showed good concordance between observed and nomogram-predicted probability in the training and validation cohorts. The DCA confirmed that the aGAPSS-IS provided more net benefits than the aGAPSS in both cohorts.ConclusionAge, diabetes, hyperuricemia, the platelet count, and the aGAPSS were risk factors for IS in patients with APS. The aGAPSS-IS may be a good tool for IS risk stratification for patients with APS based on routinely available data.
Impaired sweating in patients with cholinergic urticaria is linked to low expression of acetylcholine receptor CHRM3 and acetylcholine esterase in sweat glands
Authors: Wang Yiyu , Scheffel Jörg , Vera Carolina Ayala , Liu Wei , Günzel Dorothee , Terhorst-Molawi Dorothea , Maurer Marcus , Altrichter Sabine 
Published: July 2022

BackgroundCholinergic urticaria (CholU), a frequent form of chronic inducible urticaria, is characterized by itchy wheals and angioedema in response to sweating. As of now, the rate and pathophysiological relevance of impaired sweating in patients with CholU are ill-defined.AimTo assess in CholU patients the rate and extent of impaired sweating and its links to clinical and pathophysiological features of CholU.Patients and methodsWe assessed sweating in patients with CholU (n = 13) subjected to pulse-controlled ergometry (PCE) provocation testing. Pre- and post-PCE biopsies of lesional (L) and non-lesional (NL) skin were analyzed for the expression of acetylcholine receptor M3 (CHRM3) and acetylcholine esterase (ACh-E) by quantitative histomorphometry and compared to those of healthy control subjects (HCs). CholU patients were assessed for disease duration and severity as well as other clinical features.ResultsOf the 13 patients with CholU, 10 showed reduced sweating in response to PCE provocation, and 3 had severely reduced sweating. Reduced sweating was linked to long disease duration and high disease severity. CholU patients with impaired sweating responses showed reduced sweat gland epithelial expression of CHRM3 and ACh-E.ConclusionReduced sweating is common in CholU patients, especially in those with long-standing and severe disease, and it can be severe. Reduced expression of CHRM3 and ACh-E may be the cause or consequence of CholU in patients with impaired sweating, and this should be explored by further studies.
Case report: Bladder preserving after maximal transurethral resection of the bladder tumor combined with chemotherapy and immunotherapy in recurrent muscle-invasive bladder cancer patients: A report of two cases
Authors: Mao Jiaquan , Yang Chunguang , Xin Sheng , Cui Kai , Liu Zheng , Wang Tao , Hu Zhiquan , Wang Shaogang , Liu Jihong , Song Xiaodong , Song Wen 
Published: August 2022

BackgroundCisplatin-based neoadjuvant chemotherapy combined with radical cystectomy (RC) plus pelvic lymph node dissection (PLND) is the preferred treatment option for muscle-invasive bladder cancer (MIBC). However, some patients are unable to tolerate RC or may have postoperative complications after RC. And most patients have a strong desire for bladder-preserving treatment. There are no reports on the efficacy of maximal transurethral resection of the bladder tumor (TURBT) in combination with chemotherapy plus tislelizumab for bladder-preserving in recurrent MIBC patients.Case presentationWe report two cases diagnosed with recurrent MIBC who achieved pathological complete response (pCR) and bladder-preserving after maximal TURBT combined with chemotherapy plus tislelizumab.ConclusionPostoperative immunotherapy should be considered for all patients with recurrent MIBC who are eligible for immunotherapy. In addition, high programmed death ligand-1 (PD-L1) expression, high tumor mutation burden (TMB), and TP53 mutation level can be combined to predict tislelizumab efficacy.
Spinal Obstruction-Related vs. Craniocervical Junction-Related Syringomyelia: A Comparative Study
Authors: Yuan Chenghua , Guan Jian , Du Yueqi , Fang Zeyu , Wang Xinyu , Yao Qingyu , Zhang Can , Jia Shanhang , Liu Zhenlei , Wang Kai , Duan Wanru , Wang Xingwen , Wang Zuowei , Wu Hao , Chen Zan , Jian Fengzeng 
Published: August 2022

BackgroundNo prior reports have focused on spinal cord injury (SCI) characteristics or inflammation after destruction of the blood–spinal cord barrier by syringomyelia. This study aimed to determine the differences in syringomyelia-related central SCI between craniocervical junction (CCJ) syringomyelia and post-traumatic syringomyelia (PTS) before and after decompression.MethodsIn all, 106 CCJ, 26 CCJ revision and 15 PTS patients (mean history of symptoms, 71.5 ± 94.3, 88.9 ± 85.5, and 32.3 ± 48.9 months) between 2015 and 2019 were included. The symptom course was analyzed with the American Spinal Injury Association ASIA and Klekamp–Samii scoring systems, and neurological changes were analyzed by the Kaplan–Meier statistics. The mean follow-up was 20.7 ± 6.2, 21.7 ± 8.8, and 34.8 ± 19.4 months.ResultsThe interval after injury was longer in the PTS group, but the natural history of syringomyelia was shorter (p = 0.0004 and 0.0173, respectively). The initial symptom was usually paraesthesia (p = 0.258), and the other main symptoms were hypoesthesia (p = 0.006) and abnormal muscle strength (p = 0.004), gait (p &lt; 0.0001), and urination (p &lt; 0.0001). SCI associated with PTS was more severe than that associated with the CCJ (p = 0.003). The cavities in the PTS group were primarily located at the thoracolumbar level, while those in the CCJ group were located at the cervical-thoracic segment at the CCJ. The syrinx/cord ratio of the PTS group was more than 75% (p = 0.009), and the intradural adhesions tended to be more severe (p &lt; 0.0001). However, there were no significant differences in long-term clinical efficacy or peripheral blood inflammation markers (PBIMs) except for the red blood cell (RBC) count (p = 0.042).ConclusionPTS tends to progress faster than CCJ-related syringomyelia. Except for the RBC count, PBIMs showed no value in distinguishing the two forms of syringomyelia. The predictive value of the neutrophil-to-lymphocyte ratio for syringomyelia-related inflammation was negative except in the acute phase.
A novel multiple time-frequency sequential coding strategy for hybrid brain-computer interface
Authors: Yue Zan , Wu Qiong , Ren Shi-Yuan , Li Man , Shi Bin , Pan Yu , Wang Jing 
Published: July 2022

BackgroundFor brain-computer interface (BCI) communication, electroencephalography provides a preferable choice due to its high temporal resolution and portability over other neural recording techniques. However, current BCIs are unable to sufficiently use the information from time and frequency domains simultaneously. Thus, we proposed a novel hybrid time-frequency paradigm to investigate better ways of using the time and frequency information.MethodWe adopt multiple omitted stimulus potential (OSP) and steady-state motion visual evoked potential (SSMVEP) to design the hybrid paradigm. A series of pre-experiments were undertaken to study factors that would influence the feasibility of the hybrid paradigm and the interaction between multiple features. After that, a novel Multiple Time-Frequencies Sequential Coding (MTFSC) strategy was introduced and explored in experiments.ResultsOmissions with multiple short and long durations could effectively elicit time and frequency features, including the multi-OSP, ERP, and SSVEP in this hybrid paradigm. The MTFSC was feasible and efficient. The preliminary online analysis showed that the accuracy and the ITR of the nine-target stimulator over thirteen subjects were 89.04% and 36.37 bits/min.SignificanceThis study first combined the SSMVEP and multi-OSP in a hybrid paradigm to produce robust and abundant time features for coding BCI. Meanwhile, the MTFSC proved feasible and showed great potential in improving performance, such as expanding the number of BCI targets by better using time information in specific stimulated frequencies. This study holds promise for designing better BCI systems with a novel coding method.
Increased functional connectivity of white-matter in myotonic dystrophy type 1
Authors: Li Jing , Li Jie , Huang Pei , Huang Li-Na , Ding Qing-Guo , Zhan Linlin , Li Mengting , Zhang Jiaxi , Zhang Hongqiang , Cheng Lulu , Li Huayun , Liu Dong-Qiang , Zhou Hai-Yan , Jia Xi-Ze 
Published: August 2022

BackgroundMyotonic dystrophy type 1 (DM1) is the most common and dominant inherited neuromuscular dystrophy disease in adults, involving multiple organs, including the brain. Although structural measurements showed that DM1 is predominantly associated with white-matter damage, they failed to reveal the dysfunction of the white-matter. Recent studies have demonstrated that the functional activity of white-matter is of great significance and has given us insights into revealing the mechanisms of brain disorders.Materials and methodsUsing resting-state fMRI data, we adopted a clustering analysis to identify the white-matter functional networks and calculated functional connectivity between these networks in 16 DM1 patients and 18 healthy controls (HCs). A two-sample t-test was conducted between the two groups. Partial correlation analyzes were performed between the altered white-matter FC and clinical MMSE or HAMD scores.ResultsWe identified 13 white-matter functional networks by clustering analysis. These white-matter functional networks can be divided into a three-layer network (superficial, middle, and deep) according to their spatial distribution. Compared to HCs, DM1 patients showed increased FC within intra-layer white-matter and inter-layer white-matter networks. For intra-layer networks, the increased FC was mainly located in the inferior longitudinal fasciculus, prefrontal cortex, and corpus callosum networks. For inter-layer networks, the increased FC of DM1 patients is mainly located in the superior corona radiata and deep networks.ConclusionResults demonstrated the abnormalities of white-matter functional connectivity in DM1 located in both intra-layer and inter-layer white-matter networks and suggested that the pathophysiology mechanism of DM1 may be related to the white-matter functional dysconnectivity. Furthermore, it may facilitate the treatment development of DM1.
Bioelectrical impedance vector analysis and body composition in cervical spinal cord injury: A pilot study
Authors: Bauermann Andreia , Costa e Silva Anselmo de Athayde , Figueiredo Flávia , Koury Josely Correa 
Published: August 2022

IntroductionBody composition assessment in cervical spinal cord injury (c-SCI) individuals is important to monitor the fat free-mass (FFM) loss, due to immobilization, or gain, due to exercise practice. Single frequency bioelectrical impedance analysis (SF-BIA) is low in cost, simple and easy.ObjectivesThe aims of this study are: to evaluate the concordance between the FFM values obtained using dual X-ray absorptiometry (DXA) and the three SF-BIA previous predictive equations; and to test the applicability of the bioelectrical impedance vector analysis (BIVA).MethodsTwenty-three c-SCI males were divided into two groups: Physically active (PA; n = 13; at least 150 min/week) and non-active individuals (NPA) and were assessed by DXA and SF-BIA simultaneously.ResultsFFM values were similar between groups PA and NPA. Considering all participants, FFM values obtained by Kocina and Heyward (&gt;11%) and Sun (&lt;15.4%) predictive equations were different when compared to DXA (p &lt; 0.01). However, Buchholz's et al. predictive equation showed FFM values similar to DXA, but presented poor concordance (&lt;7%, p = 0.99; concordance coefficient = 0.85). BIVA showed consistency in ellipse distribution using FFM obtained using Buchholz et al. predictive equation.ConclusionsThe use of non-specific BIA equations can lead to misinterpretation in FFM values in male c-SCI individuals. Predictive equations for this group need to be developed.