bluuebunny/crossref_metadata_2025_split huggingface dataset:
Associations between polygenic risk of coronary artery disease and type 2 diabetes, lifestyle, and cardiovascular mortality: A prospective UK Biobank study
Authors: Yun Jae-Seung , Jung Sang-Hyuk , Shivakumar Manu , Xiao Brenda , Khera Amit V. , Park Woong-Yang , Won Hong-Hee , Kim Dokyoon 
Published: August 2022

BackgroundPrevious studies primarily targeted the ability of polygenic risk scores (PRSs) to predict a specific disease, and only a few studies have investigated the association between genetic risk scores and cardiovascular (CV) mortality. We assessed PRSs for coronary artery disease (CAD) and type 2 diabetes (T2DM) as the predictive factors for CV mortality, independent of traditional risk factors, and further investigated the additive effect between lifestyle behavior and PRS on CV mortality.MethodsWe used genetic and phenotypic data from UK Biobank participants aged 40–69 years at baseline, collected with standardized procedures. Genome-wide PRSs were constructed using &gt;6 million genetic variants. Cox proportional hazard models were used to analyze the relationship between PRS and CV mortality with stratification by age, sex, disease status, and lifestyle behavior.ResultsOf 377,909 UK Biobank participants having European ancestry, 3,210 (0.8%) died due to CV disease during a median follow-up of 8.9 years. CV mortality risk was significantly associated with CAD PRS [low vs. very high genetic risk groups, CAD PRS hazard ratio (HR) 2.61 (2.02–3.36)] and T2DM PRS [HR 2.08 (1.58–2.73)], respectively. These relationships remained significant even after an adjustment for a comprehensive range of demographic and clinical factors. In the very high genetic risk group, adherence to an unfavorable lifestyle was further associated with a substantially increased risk of CV mortality [favorable vs. unfavorable lifestyle with very high genetic risk for CAD PRS, HR 8.31 (5.12–13.49); T2DM PRS, HR 5.84 (3.39–10.04)]. Across all genetic risk groups, 32.1% of CV mortality was attributable to lifestyle behavior [population attributable fraction (PAF) 32.1% (95% CI 28.8–35.3%)] and 14.1% was attributable to smoking [PAF 14.1% (95% CI 12.4–15.7%)]. There was no evidence of significant interaction between PRSs and age, sex, or lifestyle behavior in predicting the risk of CV mortality.ConclusionPRSs for CAD or T2DM and lifestyle behaviors are the independent predictive factors for future CV mortality in the white, middle-aged population. PRS-based risk assessment could be useful to identify the individuals who need intensive behavioral or therapeutic interventions to reduce the risk of CV mortality.
Comparison of cusp-overlap projection and standard three-cusp coplanar view during self-expanding transcatheter aortic valve replacement: A systematic review and meta-analysis
Authors: Chen Yujing , Zhu Gangjie , Liu Xin , Wu Weilin , Chai Hui , Tao Minjie , Kong Dongmei , Li Yingzi , Wang Li 
Published: August 2022

ObjectivePermanent pacemaker implantation (PPI) is a common complication after transcatheter aortic valve replacement (TAVR). Recently, the cusp-overlap projection (COP) technique was thought to be a feasible method to reduce PPI risk. However, the evidence is still relatively scarce. Therefore, this meta-analysis was performed to compare COP and standard three-cusp coplanar (TCC) projection technique.MethodsPubMed and EMBASE databases were systematically searched for relevant literature published from the inception (EMBASE from 1974 and PubMed from 1966) to 16 April 2022, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. The primary outcome of interest was post-operative (including in-hospital and 30-day) PPI.ResultsTotal of 3,647 subjects from 11 studies were included in this meta-analysis. Of those, 1,453 underwent self-expanding TAVR using COP and 2,194 using TCC technique. In a pooled analysis, the cumulative PPI incidence was 9.3% [95% confidence interval (CI): 6.9–11.7%] and 18.9% (95% CI: 15.5–22.3%) in the COP group and TCC group, respectively. The application of the COP technique was associated with a significant PPI risk reduction (I2 = 40.3% and heterogeneity Chi-square p = 0.070, random-effects OR: 0.49, 95% CI: 0.36–0.66, p &lt; 0.001). A higher implantation depth was achieved in the COP group compared with the TCC group [standardized mean difference (SMD) = −0.324, 95% CI: (−0.469, −0.180)]. There was no significant difference between the two groups in second valve implantation, prosthesis pop-out, fluoroscopic time, post-operative left bundle branch block, mortality, stroke, moderate/severe paravalvular leakage, mean gradient, and length of hospital stay. However, radiation doses were higher in the COP group [SMD = 0.394, 95% CI: (0.216, 0.572), p &lt; 0.001].ConclusionIn self-expanding TAVR, the application of the cusp overlap projection technique was associated with a lower risk of PPI compared with the standard TCC technique.Systematic review registration[https://inplasy.com/inplasy-2022-4-0092/], identifier [INPLASY202240092].
Accurate detection of heart rate using in-ear photoplethysmography in a clinical setting
Authors: Adams Tim , Wagner Sophie , Baldinger Melanie , Zellhuber Incinur , Weber Michael , Nass Daniel , Surges Rainer 
Published: August 2022

BackgroundRecent research has shown that photoplethysmography (PPG) based wearable sensors offer a promising potential for chronic disease monitoring. The aim of the present study was to assess the performance of an in-ear wearable PPG sensor in acquiring valid and reliable heart rate measurements in a clinical setting, with epileptic patients.MethodsPatients undergoing video-electroencephalography (EEG) monitoring with concomitant one-lead electrocardiographic (ECG) recordings were equipped with an in-ear sensor developed by cosinuss°.ResultsIn total, 2,048 h of recording from 97 patients with simultaneous ECG and in-ear heart rate data were included in the analysis. The comparison of the quality-filtered in-ear heart rate data with the reference ECG resulted in a bias of 0.78 bpm with a standard deviation of ±2.54 bpm; Pearson’s Correlation Coefficient PCC = 0.83; Intraclass Correlation Coefficient ICC = 0.81 and mean absolute percentage error MAPE = 2.57.ConclusionThese data confirm that the in-ear wearable PPG sensor provides accurate heart rate measurements in comparison with ECG under realistic clinical conditions, especially with a signal quality indicator. Further research is required to investigate whether this technology is helpful in identifying seizure-related cardiovascular changes.
Heterogeneous rock mass detection in the Goaf underlying the Yingbin substation
Authors: Dong Jianjun , Zhang Ying , Xie Zhengquan , Gao Ke 
Published: August 2022

The existence of heterogeneous rock mass in the goaf easily causes surface deformation, subsidence, and even collapse, which restricts the development of urbanization of the buildings above the goaf. Because of the saturation of the city and the shortage of power supply, the idea of building the Yingbin substation was proposed on the old coal mine goaf in Xinhua District, Pingdingshan City, Henan Province, China. To ensure the safety and stability of the foundation of the proposed substation, the comprehensive detection method was proposed, which is mainly based on transient electromagnetic detection and supplemented via drilling detection. It was used to determine the spatial position and location of heterogeneous rock mass in the goaf underlying the proposed substation. The results show that 1) after eliminating the interference to the transient electromagnetic detection, it is found that there are low-resistance anomalies near the depth of −160 m at points 1 to 2 and point 8 of the X2 line and at points 1 to 3 of the Y3 line, which are preliminarily presumed to be the influence of the heterogeneous rock mass. 2) The apparent resistivity anomalous areas of −160 and −200 m depth are highly consistent, and the location and scope of the heterogeneous rock mass were basically determined. 3) The abnormal depth range of core rate obtained by drilling is in good agreement with the abnormal range of apparent resistivity at the same location obtained by transient electromagnetic, which indicates the reliability of the detection results. 4) Combining the detection results of the two methods, the location and scope of the heterogeneous rock mass were basically determined, which is located in the western part of the proposed area. The detection results can provide a basis for the safety and stability of the proposed substation foundation. To ensure the safe and stable operation of the proposed substation foundation, effective governance measures for the heterogeneous rock mass of the goaf should be taken.
Experimental investigation on mechanical behavior of sands treated by enzyme-induced calcium carbonate precipitation with assistance of sisal-fiber nucleation
Authors: Zhang Jianwei , Yin Yue , Shi Lei , Bian Hanliang , Shi Wanpeng 
Published: August 2022

Sisal fibers had obvious advantages of mechanical strength on reinforced enzyme-induced calcium carbonate precipitation (EICP)-cemented loose sands. However, there are few related researches, whose research on strength and toughness is not sufficient, and the analysis on mechanism is lacking. In this article, sisal fiber was used to strengthen EICP-treated sand, and the mechanical properties and underlying mechanism were experimentally explored. The results show that the strength and toughness of EICP-treated sand can be effectively improved by sisal fibers. The optimal sisal fiber length is 10 mm and the optimal fiber content is 0.2%. The wet-dry cycle resistance of the samples is improved simultaneously. Microscopic study showed that the rough surface of sisal fiber provided a large number of nucleation sites for calcium carbonate precipitation and formed an effective “bridge network.” This study reports the potential and the underlying mechanism of sisal fiber on improvement of EICP performance by new test methods and provides new insight into enhancing mechanical behavior of EICP-cemented loose sands with natural fiber.
Comparison of material properties of heel pad between adults with and without type 2 diabetes history: An in-vivo investigation during gait
Authors: Yang Xiong-gang , Teng Zhao-lin , Zhang Zhen-ming , Wang Kan , Huang Ran , Chen Wen-ming , Wang Chen , Chen Li , Zhang Chao , Huang Jia-zhang , Wang Xu , Ma Xin , Geng Xiang 
Published: August 2022

ObjectiveThis study was aimed to compare the material properties of heel pad between diabetes patients and healthy adults, and investigate the impact of compressive loading history and length of diabetes course on the material properties of heel pad.MethodsThe dual fluoroscopic imaging system (DFIS) and dynamic foot-ground contact pressure-test plate were used for measuring the material properties, including primary thickness, peak strain, peak stress, stiffness, viscous modulus and energy dissipation ratio (EDR), both at time zero and following continuous loading. Material properties between healthy adults and DM patients were compared both at time zero and following continuous weight bearing. After then, comparison between time-zero material properties and properties following continuous loading was performed to identify the loading history-dependent biomechanical behaviour of heel pad. Subgroup-based sensitivity analysis was then conducted to investigate the diabetes course (&lt;10 years vs. ≥10 years) on the material properties of heel pad.ResultsTen type II DM subjects (20 legs), aged from 59 to 73 (average: 67.8 ± 4.9), and 10 age-matched healthy adults (20 legs), aged from 59 to 72 (average: 64.4 ± 3.4), were enrolled. Diabetes history was demonstrated to be associated with significantly lower primary thickness (t=3.18, p=0.003**), higher peak strain (t=2.41, p=0.021*), lower stiffness (w=283, p=0.024*) and lower viscous modulus (w=331, p&lt;0.001***) at time zero, and significantly lower primary thickness (t=3.30, p=0.002**), higher peak strain (w=120, p=0.031*) and lower viscous modulus (t=3.42, p=0.002**) following continuous loading. The continuous loading was found to be associated with significantly lower primary thickness (paired-w=204, p&lt;0.001***) and viscous modulus (paired-t=5.45, p&lt;0.001***) in healthy adults, and significantly lower primary thickness (paired-w=206, p&lt;0.001***) and viscous modulus (paired-t=7.47, p&lt;0.001***) in diabetes group. No any significant difference was found when conducting the subgroup analysis based on length of diabetes course (&lt;10 years vs. ≥10 years), but the regression analysis showed that the length of diabetes history was positively associated with the peak strain, at time zero (r=0.506, p&lt;0.050) and following continuous loading (r=0.584, p&lt;0.010).ConclusionsDiabetes patients were found to be associated with decreased primary thickness and viscous modulus, and increased peak strain, which may contribute to the vulnerability of heel pad to injury and ulceration. Pre-compression history-dependent behaviour is observable in soft tissue of heel pad, with lowered primary thickness and viscous modulus.
Molecular characteristics of immunocytes infiltration in primary central nervous system lymphoma
Authors: Zhang Linyun , Sun Fei , Lu Xiaona , Wang Xiaotong , Wang Jie , Li Jun , Xu Yingsong , Kou Daqing , Lv Hongtao , Don Bin 
Published: August 2022

Background: Primary central nervous system lymphoma (PCNSL) is a rare B-cell lymphoma of central nervous system, which is often found in immunocompromised patients. The common clinical treatment of PCNSL is methotrexate (MTX) and whole brain radiation therapy. With the development of tumour immunology research, the tumour microenvironment of PCNSL is characterised by abnormal expression of different immune signature molecules and patients with PCNSL may benefit from tumour immunotherapy.Methods: In our research, RNA-seq data from 82 PCNSL patients were collated by mining the microarray data from the GEO database. All samples were classified into three types related to tumour immune response by the Cibersort algorithm and consistent clustering. Differential analysis of genes was used to uncover 2 sets of differential genes associated with tumour immunity. The ICI scores of each sample were obtained by PCA algorithm, and the relationship between ICI scores and immune checkpoint expression, immunotherapy and drug sensitivity was investigated. Genes associated with ICI scores and their functional characteristics were investigated by WGCNA analysis and PPI analysis, based on the ICI scores of each sample.Results: The tumour microenvironment in PCNSL has a greater relationship with the tumour immune response. ICI scores obtained from 375 differential genes were associated with multiple immune responses in PCNSL. PCNSL patients with higher ICI scores had a better tumour microenvironment and were sensitive to immunotherapy and some small molecule drug. This study also identified 64 genes associated with ICI scores, which may serve as important therapeutic and prognostic targets for PCNSL.Conclusion: The presence of multiple immunosuppressive responses in the tumour microenvironment of PCNSL which suggested that improving the immune function of PCNSL patients through immunotherapy and targeted therapies can be an effective treatment for PCNSL. And the ICI score and associated genes may also provide a better predictor of the clinical use of immunotherapy.
Juvenile-onset PSAT1-related neuropathy: A milder phenotype of serine deficiency disorder
Authors: Shen Yu , Peng Yun , Huang Pengcheng , Zheng Yilei , Li Shumeng , Jiang Kaiyan , Zhou Meihong , Deng Jianwen , Zhu Min , Hong Daojun 
Published: August 2022

Background: Primary serine deficiency disorders have a broad range of the phenotypic spectrum. As an inborn error of metabolism, individuals with severe phenotype may be easily recognized with Neu-Laxova syndrome. However, late-onset mild phenotypes may be underdiagnosed and will lead to disastrous consequences due to treatment delays.Materials and Methods: Clinical features of patients with serine deficiency disorders were summarized in two unrelated patients. Skin and sural nerve biopsies were conducted on the patients. Whole exome sequencing (WES) was performed in the index patients. Sanger sequencing was used to analyze family cosegregation.Results: Patient 1 was a 19-year-old male presenting with infancy-onset ichthyosis and juvenile-onset neuropathy. Patient 2 was a 17-year-old male manifesting childhood-onset ichthyosis and juvenile-onset neuropathy. Except for nystagmus, no other developmental or neurodegenerative disorders were found in the patients. Electrophysiological studies indicated a severe sensorimotor axonal neuropathy with a possible demyelinating component. High-dose oral L-serine and glycine completely alleviated skin lesions and only slightly improved neuropathy symptoms. Skin biopsies showed typical features consistent with ichthyosis and severe loss of unmyelinated axons. Sural biopsies revealed a severe loss of axons and a few thinly myelinated fibers. WES found the same homozygous variant c.43G &gt; C (p.A15P) in the PSAT1 gene, which was cosegregated in the two families.Conclusions: The skin and nervous system may be the main affected targets in serine deficiency disorders. Our patients show a more simple and mild phenotype of PSAT1-related serine deficiency disorder. The pathological changes and regenerative ability of skin and peripheral nerves determine their response to serine supplements.
Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
Authors: Al Hawsawi Khalid , Al Jabri Mazin , Dajam Mazen S. , Almahdi Bashaer , Alhawsawi Waseem K. , Abbas Safdar , Al Tuwaijri Abeer , Umair Muhammad , Alfadhel Majid , Al-Khenaizan Sultan 
Published: August 2022

Background: Hypotrichosis with Recurrent Skin Vesicles (HYPTSV) is an extremely rare condition, having autosomal recessive inheritance. Here in we report a 4-years- old Saudi boy who presented with a history of recurrent skin blisters that are localized to the extremities and hypotrichosis since birth.Methods: The present study describes a consanguineous Saudi family segregating HYPTSV in an autosomal recessive fashion. A single proband (II-1) exhibited features such as diffused non-scarring alopecia on the scalp, intraepidermal blister, post-inflammatory hyperpigmented macules, and follicular hyperkeratosis. DNA of the index was subjected to whole-genome sequencing (WGS). Furthermore, 3D protein modeling was performed for the mutated and normal protein.Results: WGS revealed a novel bi-allelic missense variant (c.154G&gt;C; p. Val52Leu) in the DSC3 gene, which segregated perfectly using Sanger sequencing. In addition, 3D protein modeling revealed a substantial change in the mutated DSC3 protein as compared to the normal DSC3 protein.Conclusion: This is the 3rd novel variant reported in the DSC3 gene associated with the HYPTSV phenotype. This report further strengthens the evidence that bi-allelic variants in the DSC3 cause severe HYPTSV in humans.
Decreased CD57 expression of natural killer cells enhanced cytotoxicity in patients with primary sclerosing cholangitis
Authors: Liu Bin , Yang Guo-Xiang , Sun Ying , Tomiyama Takashi , Zhang Weici , Leung Patrick S. C. , He Xiao-Song , Dhaliwal Sandeep , Invernizzi Pietro , Gershwin M. Eric , Bowlus Christopher L. 
Published: August 2022

Background/aimsPrimary sclerosing cholangitis (PSC) is a chronic inflammatory biliary disease for which the immunopathological basis remains an enigma. Natural killer (NK) cells are key components of innate immunity and seemingly play diversified roles in different autoimmune disorders (AIDs). The aim of this study was to determine the role of NK cells in the pathogenesis of PSC.MethodsThe frequency and phenotype of circulating NK cells in a large cohort of patients with PSC and healthy controls (HCs) were systematically examined. In addition, the functional capacity of NK cells including cytotoxicity and cytokine production was studied.ResultsThe frequency of CD3−CD56dimCD16+ (defined as CD56dim) NK cells in PSC patients was significantly lower in comparison to HCs. CD56dim NK cells from PSC displayed a more immature phenotype including high expression of the natural killing receptor NKp46 and downregulation of the highly differentiated NK cell marker CD57. Interestingly, the reduction of CD57 expression of NK cells was associated with the disease severity of PSC. In addition, PSC CD56dim NK cells exhibited increased CD107a degranulation and cytolytic activity toward target cells compared with HCs. Further analysis demonstrated that CD57−CD56dim NK cells from PSC had elevated expression of NKp46, NKp30, IL-2 receptor, and KLRG1 and higher cytotoxic capacity as compared to CD57+CD56dim NK cells.ConclusionsOur data demonstrate that the differentiation of PSC NK cells is dysregulated with enhanced cytotoxic activity. This change is likely to be functionally involved in pathogenesis and disease progression, deducing the potential of NK-directed immunotherapy for PSC.
The association between antibiotic use and outcomes of HCC patients treated with immune checkpoint inhibitors
Authors: Zhang Lilong , Chen Chen , Chai Dongqi , Li Chunlei , Guan Yongjun , Liu Li , Kuang Tianrui , Deng Wenhong , Wang Weixing 
Published: August 2022

ObjectiveRecently, immune checkpoint inhibitor (ICI) treatment has shown encouraging performance in improving the prognosis of hepatocellular carcinoma (HCC) patients. The gut microbiome plays a vital role in altering the efficacy of ICIs, which may be impacted by antibiotics. The aim of the meta-analysis is to estimate the influence of antibiotic use on the survival of HCC patients treated with ICIs.MethodsThe literature review was conducted using databases like PubMed, EMBASE, Cochrane Library, CNKI, WANFANG DATA, VIP, Google Scholar, and ClinicalTrials.gov before May 15, 2022. The primary endpoints were overall survival (OS), progression-free survival (PFS), objective response rate (ORR), and disease control rate (DCR).ResultsA total of six retrospective studies met the inclusion criteria. 1056 patients were included in the study, of which 352 (33.33%) received antibiotic treatment. The meta-analysis results revealed antibiotic use did not affect the OS (HR: 1.41, 95% CI: 0.96-2.08, P = 0.088) and PFS (HR: 1.21, 95% CI: 0.73-2.00, P = 0.459) in HCC patients treated with ICIs. Besides, the use of antibiotics did not reduce the ORR (OR: 1.06, 95% CI: 0.69-1.64, P = 0.784) and DCR (OR: 0.42, 95% CI: 0.09-2.06, P = 0.286) in HCC patients treated with ICIs.ConclusionCurrent evidence reveals that antibiotic use does alter the therapeutic efficacy of ICIs in HCC patients.Systematic Review Registrationhttps://www.crd.york.ac.uk/, identifier CRD42022311948.