bluuebunny/crossref_metadata_2025_split huggingface dataset:
Association Between Diabetic Retinopathy and Insomnia Risk: A Nationwide Population-Based Study
Authors: Um Yoo Hyun , Kim Tae-Won , Jeong Jong-Hyun , Hong Seung-Chul , Seo Ho-Jun , Han Kyung-Do 
Published: July 2022

BackgroundPrevious studies have suggested a close link between sleep disturbances and diabetic retinopathy (DR). However, to date, no confirmatory findings have been reported. We aimed to explore the risk of insomnia in DR by considering demographic factors and diabetes mellitus (DM)-related variables.MethodsA nationwide population-based cohort of 2,206,619 patients with type 2 diabetes from the Korean National Insurance Service Database was followed up for insomnia incidence. DR, non-proliferative DR (NPDR), and proliferative DR (PDR) were defined according to ICD-10 codes. The interactive effects of sex, age, and DM-related variables were analyzed to evaluate their impact on insomnia risk in DR.ResultsCompared with the non-DR group, insomnia risk was increased in the DR [(adjusted hazard ratio (aHR): 1.125, 95% confidence interval (CI):1.108-1.142), NPDR (aHR:1.117, 95% CI:1.099-1.134), and PDR (aHR:1.205, 95% CI: 1.156-1.256), even after controlling for comorbidities, lifestyle factors, and DM-related variables. The men and youngest age groups (&lt;40 years) were most vulnerable to insomnia risk. Sex, age, DM duration, and chronic kidney disease (CKD) status exerted interactive effects with DR status in increasing the insomnia risk. In the PDR group, sex, age, DM duration, insulin therapy status, and CKD status exerted interactive effects that increased the risk of insomnia.ConclusionInsomnia risk is significantly higher in patients with DR, and clinical attention is warranted.
A Genetic Polymorphism in the WDR72 Gene is Associated With Calcium Nephrolithiasis in the Chinese Han Population
Authors: Wang Lujia , Zhou Zijian , Yang Yuanyuan , Gao Peng , Lin Xiaoling , Wu Zhong 
Published: July 2022

A previous genome-wide association study (GWAS) reported several novel loci for nephrolithiasis in British and Japanese population, some of which were predicted to influence CaSR signaling. In this study, we aimed to evaluate the association of these loci with calcium nephrolithiasis in Chinese Han population. We performed a case-control association analysis involving 691 patients with calcium nephrolithiasis and 1008 control subjects. We were able to genotype a total of 17 single-nucleotide polymorphisms (SNPs), which were previously reported to be significantly associated with nephrolithiasis in GWAS. rs578595 at WDR72 was significantly associated with calcium nephrolithiasis in Chinese Han population (p &lt; 0.001, OR = 0.617). Moreover, rs12654812 at SLC34A1 (p = 0.0427, OR = 1.170), rs12539707 at HIBADH (p = 0.0179, OR = 0.734), rs1037271 at DGKH (p = 0.0096, OR = 0.828) and rs12626330 at CLDN14 (p = 0.0080, OR = 1.213) indicated suggestive associations with calcium nephrolithiasis. Our results elucidated the significance of genetic variation at WDR72, DGKH, CLDN14, SLC34A1, and HIBADH in Chinese patients with nephrolithiasis. Since polymorphisms of WDR72, DGKH, and CLDN14 are predicted to influence in CaSR signaling, our results emphasized the role of abnormal calcium homeostasis in calcium nephrolithiasis.
Identification of the KCNQ1OT1/ miR-378a-3p/ RBMS1 Axis as a Novel Prognostic Biomarker Associated With Immune Cell Infiltration in Gastric Cancer
Authors: Yue Ting , Li Jingjing , Liang Manguang , Yang Jiaman , Ou Zhiwen , Wang Shuchen , Ma Wuhua , Fan Dehui 
Published: July 2022

Background: Gastric cancer (GC) is the second leading cause of cancer-related mortality and the fifth most common cancer worldwide. However, the underlying mechanisms of competitive endogenous RNAs (ceRNAs) in GC are unclear. This study aimed to construct a ceRNA regulation network in correlation with prognosis and explore a prognostic model associated with GC.Methods: In this study, 1,040 cases of GC were obtained from TCGA and GEO datasets. To identify potential prognostic signature associated with GC, Cox regression analysis and the least absolute shrinkage and selection operator (LASSO) regression were employed. The prognostic value of the signature was validated in the GEO84437 training set, GEO84437 test set, GEO15459 set, and TCGA-STAD. Based on the public databases, TargetScan and starBase, an mRNA-miRNA-lncRNA regulatory network was constructed, and hub genes were identified using the CytoHubba plugin. Furthermore, the clinical outcomes, immune cell infiltration, genetic variants, methylation, and somatic copy number alteration (sCNA) associated with the ceRNA network were derived using bioinformatics methods.Results: A total of 234 prognostic genes were identified. GO and GSEA revealed that the biological pathways and modules related to immune response and fibroblasts were considerably enriched in GC. A nomogram was generated to provide accurate prognostic outcomes and individualized risk estimates, which were validated in the training, test dataset, and two independent validation datasets. Thereafter, an mRNA-miRNA-lncRNA regulatory network containing 4 mRNAs, 22 miRNAs, 201 lncRNAs was constructed. The KCNQ1OT1/hsa-miR-378a-3p/RBMS1 ceRNA network associated with the prognosis was obtained by hub gene analysis and correlation analysis. Importantly, we found that the KCNQ1OT1/miR-378a-3p/RBMS1 axis may play a vital role in the diagnosis and prognosis of GC patients based on Cox regression analyses. Furthermore, our findings demonstrated that mutations and sCNA of the KCNQ1OT1/miR-378a-3p/RBMS1 axis were associated with increased immune infiltration, while the abnormal upregulation of the axis was primarily a result of hypomethylation.Conclusion: Our findings suggest that the KCNQ1OT1/miR-378a-3p/RBMS1 axis may be a potential prognostic biomarker and therapeutic target for GC. Moreover, such findings provide insights into the molecular mechanisms of GC pathogenesis.
Knowledge and Expectations of Perinatal Care Among Pregnant Women During the COVID-19 Pandemic
Authors: Lim Caleb Chun Wei , Goh Marlene Samantha Sze Minn , Chua Ka-Hee , Seet Meei Jiun , Tay Siew Guek , Mathur Manisha , Kong Juin Yee , Yeo Kee Thai 
Published: July 2022

IntroductionThis study aimed to investigate the knowledge and expectations of pregnant women on perinatal care during the coronavirus disease 2019 (COVID-19) pandemic.MethodsA cross-sectional survey was conducted among pregnant women ≥21 years, without a history of confirmed COVID-19, attending antenatal clinics between August and September 2020 via a secure online platform. The survey consisted of 10 questions which evaluated the knowledge and expectations on perinatal and neonatal care during the current pandemic.ResultsA total of 313 pregnant women completed the survey. The mean age of the participants was 30 years (SD 4; range 22–43 years). The median gestational age was 25 weeks (range 4–40 weeks). The participants were predominantly multiparous (54%) and almost all (98%) had completed secondary level education. Majority of participants were aware of the spread of COVID-19 by respiratory secretions and contact (90%), and the importance of prevention strategies (94%). Up to 72% agreed or strongly agreed that in-utero transmission of SARS-CoV-2 was possible. Most were unsure of the optimal mode of delivery (77%) and only 22% believed that breastfeeding was safe in a pregnant woman with active COVID-19. Although 46% were concerned about increased transmission risk with antenatal clinic visits, only 37% were agreeable to teleconferencing of clinic appointments. Maternal age &gt;35 years was significantly associated with agreement with separation of mother-infant after birth [AOR 1.89 (95% CI 1.05, 3.39)], restrictions of visitors during the postnatal period [1.92 (1.05, 3.49)] and having their confinement practices were affected [2.3 (1.26, 4.17)]. Pregnant women who were multiparous disagreed that breastfeeding was safe in women with active COVID-19 [0.42 (0.23, 0.75)].ConclusionsThere was significant uncertainty about the optimal delivery method and safety of breastfeeding with COVID-19 among expectant mothers, along with variable agreement with alterations to routine perinatal care.
Infiltration Patterns of Cervical Epithelial Microenvironment Cells During Carcinogenesis
Authors: Zhang Jianwei , Meng Silu , Zhang Xiuqing , Shao Kang , Lin Cong 
Published: July 2022

BackgroundLocal cellular microenvironment plays a crucial role in the HPV-induced cervical malignant transformation. Characterization of the dynamic infiltration changes of microenvironment cells during cervical carcinogenesis would contribute to a better understanding of involved mechanisms.MethodsThree public gene expression datasets of cervical squamous epithelium samples were collected and combined. We applied seven up-to-date computational methods for infiltrating estimation and compared their results (CD4+ and CD8+ T cells) to the known fraction. After benchmarking the applied methods, the cell filtration patterns were determined and clustered through fuzzy c-means algorithm.ResultsMost methods displayed better performance in predicting the abundance of CD4+ T cell than that of CD8+ T cell. The infiltration patterns of 33 microenvironment cell types (including 31 immune cells and 2 non-immune cells) were determined, and five immune cell clusters with distinct features were then derived. Meanwhile, opposite changes in abundance were observed between the activated and resting state of some immune cells from the progression perspective.ConclusionsBased on characteristics and evaluation performance of different methods, as well as previous findings, for the first time we provide a comprehensive overview of the infiltration patterns of microenvironment cells throughout cervical cancer progression.
Graphene Oxide-Hybridized Waterborne Epoxy Coating for Simultaneous Anticorrosive and Antibiofilm Functions
Authors: Zhou Ying , Wang Haoran , Zhang Cheng , Zhou Qixin , Rodrigues Debora F. 
Published: July 2022

Multifunctional coatings with simultaneous antibacterial and anticorrosive properties are essential for marine environments, oil and gas industry, medical settings, and domestic/public appliances to preserve integrity and functionality of pipes, instruments, and surfaces. In this work, we developed a simple and effective method to prepare graphene oxide (GO)-hybridized waterborne epoxy (GOWE) coating to simultaneously improve anticorrosive and antibacterial properties. The effects of different GO filler ratios (0.05, 0.1, and 0.5, 1 wt%) on the electrochemical and antibacterial behaviors of the waterborne epoxy coating were investigated over short- and long-term periods. The electrochemical behavior was analyzed with salt solution for 64 days. The antibacterial effect of GOWE coating was evaluated with Shewanella oneidensis (MR-1), which is a microorganism that can be involved in corrosion. Our results revealed that concentrations as low as 0.1 wt% of the GO was effective performance than the waterborne epoxy coating without graphene oxide. This result is due to the high hydrophilicity of the graphene oxide fillers, which allowed great dispersion in the waterborne epoxy coating matrix. Furthermore, this study used a corrosion relevant bacterium as a model organism, that is, Shewanella oneidensis (MR-1), which is more relevant for real-word applications. This as-prepared GO-hybridized waterborne polymeric hybrid film provides new insight into the application of 2D nanomaterial polymer composites for simultaneous anticorrosive and antibacterial applications.
Incidence, Risk Factors, and Effect on Allograft Survival of Glomerulonephritis Post-transplantation in a United Kingdom Population: Cohort Study
Authors: Aguiar Rute , Bourmpaki Elli , Bunce Catey , Coker Bola , Delaney Florence , de Jongh Leonardo , Oliveira Giovani , Weir Alistair , Higgins Finola , Spiridou Anastasia , Hasan Syed , Smith Jonathan , Mulla Abdulrahim , Glampson Ben , Mercuri Luca , Montero Rosa , Hernandez-Fuentes Maria , Roufosse Candice A. , Simmonds Naomi , Clatworthy Menna , McLean Adam , Ploeg Rutger , Davies Jim , Várnai Kinga Anna , Woods Kerrie , Lord Graham , Pruthi Rishi , Breen Cormac , Chowdhury Paramit 
Published: July 2022

BackgroundPost-transplant glomerulonephritis (PTGN) has been associated with inferior long-term allograft survival, and its incidence varies widely in the literature.MethodsThis is a cohort study of 7,623 patients transplanted between 2005 and 2016 at four major transplant UK centres. The diagnosis of glomerulonephritis (GN) in the allograft was extracted from histology reports aided by the use of text-mining software. The incidence of the four most common GN post-transplantation was calculated, and the risk factors for disease and allograft outcomes were analyzed.ResultsIn total, 214 patients (2.8%) presented with PTGN. IgA nephropathy (IgAN), focal segmental glomerulosclerosis (FSGS), membranous nephropathy (MN), and membranoproliferative/mesangiocapillary GN (MPGN/MCGN) were the four most common forms of post-transplant GN. Living donation, HLA DR match, mixed race, and other ethnic minority groups were associated with an increased risk of developing a PTGN. Patients with PTGN showed a similar allograft survival to those without in the first 8 years of post-transplantation, but the results suggest that they do less well after that timepoint. IgAN was associated with the best allograft survival and FSGS with the worst allograft survival.ConclusionsPTGN has an important impact on long-term allograft survival. Significant challenges can be encountered when attempting to analyze large-scale data involving unstructured or complex data points, and the use of computational analysis can assist.
Comprehensive Analysis of Molecular Clusters and Prognostic Signature Based on m7G-related LncRNAs in Esophageal Squamous Cell Carcinoma
Authors: Zhao Fangchao , Dong Zefang , Li Yishuai , Liu Shiquan , Guo Pengfei , Zhang Dengfeng , Li Shujun 
Published: July 2022

N7-Methylguanosine (m7G) and long non-coding RNAs (lncRNAs) have been widely reported to play an important role in cancer. However, there is little known about the relationship between m7G-related lncRNAs and esophageal squamous cell carcinoma (ESCC). In this study, we aimed to find new potential biomarkers and construct an m7G-related lncRNA prognostic signature for ESCC. Three molecular clusters were identified by consensus clustering of 963 m7G-related lncRNAs, of which cluster B is preferentially related to poorer prognosis, higher immune and stromal scores, higher mRNA levels of immune checkpoints, and higher immune infiltrate level. We constructed a robust and effective m7G-related lncRNA prognostic signature (m7G-LPS, including 7 m7G-related prognostic lncRNAs) and demonstrated its prognostic value and predictive ability in the GEO and TCGA cohorts. The risk score was able to serve as an independent risk factor for patients with ESCC and showed better prediction than the traditional clinical risk factors. The immune score, stromal score, the infiltration level of immune cells and expression of immune checkpoints were significantly higher in the high-risk subgroup compared to the low-risk subgroup. The establishment of nomogram further improved the performance of m7G-LPS and facilitated its clinical application. Finally, we used GTEx RNA-seq data and qRT-PCR experiments to verify the expression levels of 7 m7G-related lncRNAs. To a certain degree, m7G-lncRNAs can be used as prognostic markers and therapeutic targets for ESCC patients.
Genomic Features of Organ-Specific Metastases in Lung Adenocarcinoma
Authors: Feng Alei , Li Yanjun , Li Guangxu , Wang Yu , Wen Qiang , Yang Zhe , Tian Kaihua , Lv Hongying , Guo Lijie , Zhang Shanshan , Liu Xiaoyan , Jiang Da 
Published: July 2022

BackgroundThe genomic features of cancer cells may confer the metastatic ability of lung adenocarcinoma (LUAD) to metastasize to specific organs. We aimed to identify the differences in genomic alterations between patients with primary LUAD with and without metastases and to elucidate the metastatic biology that may help developing biomarker-directed therapies for advanced or metastatic disease.MethodsA retrospective cohort of 497 patients with LUAD including 388 primary tumors (PR), 53 bone metastases (MT-bone), 30 liver metastases (MT-liver), and 26 brain metastases (MT-brain) was tested for genomic alterations by a next-generation sequencing assay.ResultsThe EGFR, TP53, TERT, LRP1B, CDKN2A, ERBB2, ALK, and KMT2C genes had a high frequency of mutations, and the mutations were shared by PR and metastases groups. TP53 and EGFR were the most common mutated genes. In comparison with PR, KRAS, STK11, ATM, NPM1, and ROS1 were significantly mutated in MT-brain, and TP53, MYC, RSPO2, CDKN2a, and CDKN2B were significantly mutated in MT-liver. The frequencies of TP53, CDKN2A, MTAP, PRKCI, and APC mutations were higher in MT-bone than that in PR. The ERBB, phosphoinositide-3-kinase/protein kinase B (PI3K-AKT), cell cycle, Fibroblast growth factor (FGF), and homologous recombination deficiency signaling pathways were affected in both PR and metastases, and there is higher frequency of mutations in metastases. Moreover, the co-mutations in patients with PR and metastasis were respectively analyzed. In addition, the programmed death ligand 1 (PD-L1) level was obviously related to tumor stage and tumor metastases, and the tumor mutational burden was correlated to clinicopathological features including age, gender, pathological stages, and tumor metastases. FGFR1, KAT6A, MYC, RAD21, TP53, and DAXX were also dramatically correlated to the tumor mutational burden.ConclusionMetastases are the most devastating stage of tumors and the main cause of cancer-related deaths. Our results provided a clinically relevant view of the tumor-intrinsic mutational landscape of patients with metastatic LUAD.
Noninvasively Assessed Portal Hypertension Grade Predicts Post-Hepatectomy Liver Failure in Patients With HepatocellCarcinoma: A Multicenter Study
Authors: Wang Jitao , Zhang Zhanguo , Shang Dong , Li Jinlong , Liu Chengyu , Yu Peng , Wang Mingguang , Liu Dengxiang , Miao Hongrui , Li Shuang , Zhang Biao , Huang Anliang , Zhang Yewei , Chen Shubo , Qi Xiaolong 
Published: July 2022

PurposeTo determine the predictive value of portal hypertension (PH) for the development of post-hepatectomy liver failure (PHLF) in patients with hepatocellular carcinoma (HCC).Patients and methodsThis study enrolled a total of 659 patients with HCC that received hepatectomy as a first-line therapy. PH was classified as grade 0, 1, and 2 according to whether the indirect criteria for PH were met: 1) patients had obvious varicose veins and 2) splenomegaly was present and platelet count &lt; 100 × 109/L. The effects of each variable on the occurrence of PHLF were assessed using univariate and multivariate analyses.ResultsPH grade 2 (odds ratio [OR] = 2.222, p = 0.011), higher age (OR = 1.031, p = 0.003), hepatitis C infection (OR = 3.711, p = 0.012), open surgery (OR = 2.336, p &lt; 0.001), portal flow blockage (OR = 1.626, p = 0.023), major hepatectomy (OR = 2.919, p = 0.001), hyperbilirubinemia (≥ 17.2 μmol/L, OR = 2.113, p = 0.002), and high levels of alpha-fetoprotein (&gt; 400n g/ml, OR = 1.799, p = 0.008) were significantly associated with PHLF occurrence. We performed a subgroup analysis of liver resection and found that the extent of liver resection and PH grade were good at distinguishing patients at high risk for PHLF, and we developed an easy-to-view roadmap.ConclusionPH is significantly related to the occurrence of PHLF in patients who underwent hepatectomy. Noninvasively assessing PH grade can predict PHLF risk.
FGD1 Variant Associated With Aarskog–Scott Syndrome
Authors: Zhu Yilin , Chen Qingqing , Lin Haiyan , Lu Huifei , Qu Yangbin , Yan Qingfeng , Wang Chunlin 
Published: July 2022

BackgroundAarskog–Scott syndrome, a rare X-linked genetic disorder, is identified by combined clinical manifestations of short stature, facial, skeletal, and genital anomalies. Annually, two or three new cases are diagnosed with Aarskog–Scott syndrome, which is associated with FGD1 variants. However, there is no specific treatment for Aarskog–Scott syndrome due to its unclear mechanism.MethodsClinical data were collected when the patient first visited the hospital. Trio whole-exome sequencing and Sanger sequencing were performed for the genetic cause of disease. To evaluate the pathogenicity of the variants in vitro, stable cell lines were constructed using lentivirus infection in 143B cell. Furthermore, Western blot was used to verify the expression of signaling pathway-related proteins, and the transcription levels of osteogenic-related genes were verified by luciferase reporter gene assay.ResultsA 7-year-old boy was manifested with facial abnormalities, intellectual disability, and short stature (−3.98 SDS) while the growth hormone level of stimulation test was normal. Trio whole-exome sequencing and Sanger sequencing identified a variant (c.1270A&gt;G, p.Asn424Asp) in FGD1 gene. The Asn424 residue was highly conserved and the hydrogen bond in the FGD1 variant protein has changed, which led to decrease in the interaction with CDC42 protein. In vitro study showed that the Asn424Asp variant significantly decreased the transcription levels of OCN, COL1A1, and ALP activity, and it activated the phosphorylation of JNK1.ConclusionMolecular biological mechanisms between abnormal expression of FGD1and Aarskog–Scott syndrome remain poorly understood. In our study, c.1270A&gt;G variant of FGD1 resulted in Aarskog–Scott syndrome, and the analysis of pathogenicity supports the deleterious effect of the variant. Furthermore, we demonstrated the weakened affinity of the mutant FGD1 and CDC42. Decreased expression of osteogenic-related gene and abnormal activation of JNK1 were also shown in this work.
Relevance of Intestinal Microbiota in Immunoglobulin A Vasculitis With Abdominal Involvement
Authors: Zhang Linqian , Jia Xinyi , Lai Panjian , Wang Kang , Bao Yunguang , Li Xiaobing 
Published: July 2022

BackgroundWe explored the intestinal microbiota changes in IgAV with abdominal involvement (IgAV-GI) at the acute and convalescent stages and evaluated the role of intestinal microbiota in the clinical course of patients with IgAV.MethodsA total of 37 patients with IgAV were included, and the control group comprised 37 age- and sex-matched healthy children. Stool samples were collected from 28 children with IgAV-GI (19 in the acute stage and 9 in the recovery stage) and from nine children with non-abdominal involvement. Fecal specimens were selected and DNA was obtained using an extraction kit which was then subjected to high-throughput sequencing and analysis.ResultsThere was no significant difference in the community structure of the intestinal microbiota among the IgAV-GI acute, IgAV-GI convalescence, and IgAV-non-GI stages. The abundance of Veillonella in the acute stage of IgAV-GI was significantly higher than that in IgAV-non-GI and convalescence stages, and Ruminococcus was the most abundant in IgAV-GI convalescence. The α-diversity of children with IgAV was significantly lower than that of healthy children, and healthy children had higher intestinal microbiota richness and more evenly distributed species. In terms of changes in intestinal microbial diversity in patients with IgAV at the genus level, obligate anaerobes such as Bifidobacterium, Prevotella, Coprobacter, Prevotella_9, Blautia, Romboutsia, Parabacteroide, Subdoligranulum, and Roseburia were significantly reduced, and the enrichment of facultative anaerobe was represented by Bacteroides, Lachnoclostridium, and Alistipe.ConclusionDifferent bacterial species may be involved in the pathogenesis of different types of IgAV-GI. Differences were observed in the intestinal microbiota between healthy children and children with IgAV.