bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel mutations of the USH2A gene and clinical phenotypes in Chinese Usher syndrome families
Authors: Li Xiaorong , Xing Dongjun , Yu Rongguo , Wang Linni , Hu Liying , Yang Yang , Li Chang , Li Zhiqing 
Published: February 2022

Abstract
Background: Usher syndrome (USH) is a leading disorder of deaf–blindness. The phenotypic and genetic heterogeneity of USH makes the diagnosis of this disorder difficult. However, diagnosis can be facilitated by employing molecular approaches, especially for diseases without pronounced pathognomonic symptoms. Therefore, this study aimed to reveal the genetic defects in five USH patients using clinical targeted exome sequencing (TES).Methods: USH patients and their family members from five unrelated Chinese USH families were recruited and subjected to TES. Ophthalmic information was obtained for all patients to ensure a meaningful interpretation. The TES data were analysed using an established bioinformatics pipeline to identify causative mutations. Further verification by Sanger sequencing and cosegregation analysis were performed on available family members.Results: We identified genetic mutations in five USH patients using TES. Seven mutations, four of which were novel, were identified in the USH2A gene. One proband (F1-II-3) was found to have a homozygous mutation inherited from nonconsanguineous parents, and another proband (F5-III-1) was found to carry three USH2A gene mutations.Conclusion: In conclusion, the study revealed the importance of TES in the clinical diagnosis of USH patients with variable phenotypes. The correlation between USH2A gene mutations and clinical phenotypes will help to refine the clinical diagnosis of USH.
How does music reading experience modulate eye movement pattern in sentence reading in bilinguals?
Authors: Liao Weiyan , Li Tze Kwan , Hsiao Janet Hui-wen 
Published: February 2022

Abstract
Here we tested the hypothesis that in Chinese-English bilinguals, music reading experience may modulate eye movement planning in reading English but not Chinese sentences due to the similarity in perceptual demands on processing sequential symbol strings separated by spaces between music notation and English sentence reading. Chinese-English bilingual musicians and non-musicians read legal, semantically incorrect, and syntactically (and semantically) incorrect sentences in both English and Chinese. In English reading, musicians showed more dispersed eye movement patterns in reading syntactically incorrect sentences than legal sentences, whereas non-musicians did not. This effect was not observed in Chinese reading. Musicians also had shorter saccade lengths when viewing syntactically incorrect than correct musical notations and sentences in an unfamiliar alphabetic language (Tibetan), whereas non-musicians did not. Thus, musicians’ eye movement planning was disturbed by syntactic violations in both music and English reading but not in Chinese reading, and this effect was generalized to an unfamiliar alphabetic language. These results suggested that music reading experience may modulate perceptual processes in reading differentially in bilinguals’ two languages, depending on their processing similarities.
An efficient inclusion complex based fluorescent sensor for mercury (II) and its application in live-cell imaging
Authors: P Keerthana , Abbo Hanna , Cherian Anila Rose , Titinchi Salam , varghese anitha 
Published: February 2022

Abstract
The formation of an inclusion complex between hydroxypropyl-β-cyclodextrin (H-CD) and 4-acetylphenyl-4-(((6-chlorobenzo[d]thiazol-2-yl)-imino)-methyl)-benzoate (L) was investigated by FT-IR, 1H-NMR, X-ray diffraction (XRD), FT-Raman, scanning electron microscope (SEM) techniques in the solid-state, absorption and emission spectroscopy in the liquid state and the virtual state as molecular docking technique. The binding properties of the inclusion complex (H-CD: L) with cations in deionized water was observed via absorbance and photoluminescence (PL) emission spectroscopy. The fluorescence probe (H-CD: L) inclusion complex (IC) was examined for several heavy metal cations and, identified that the PL emission wavelength of the complex displayed a continuous rise in the fluorescence intensity for Hg2+. A linearity range of 1×10-8 - 11×10-8 M and limit of detection value of 2.71×10-10 M was found to be achieved for the detection of Hg2+. This outcome proves that the inclusion complex H-CD: L would be a promising material for the development a solid-state fluorescence probe for detecting Hg2+. It also shows application in real sample analysis and cell imaging.
SARS-CoV-2 Omicron variant is attenuated for replication in a polarized human lung epithelial cell model
Authors: Mache Christin , Schulze Jessica , Holland Gudrun , Bourquain Daniel , Nitsche Andreas , Dürrwald Ralf , Laue Michael , Wolff Thorsten 
Published: February 2022

Abstract
SARS-CoV-2 and its emerging variants of concern remain a major threat for global health. Here we introduce a novel infection model based upon polarized human Alveolar Epithelial Lentivirus immortalized (hAELVi) cells grown at the air-liquid interface to estimate replication and epidemic potential of respiratory viruses in the human lower respiratory tract. hAELVI cultures are highly permissive for different human coronaviruses and seasonal influenza A virus and upregulate various mediators following virus infection. Our analysis revealed a significantly reduced capacity of SARS-CoV-2 Omicron variant to propagate in this human model compared to earlier D614G and Delta variants, which extends early risk assessments from epidemiological and animal studies suggesting a reduced pathogenicity of Omicron.
Coaxial cell printing of a human glomerular model in vitro of the glomerular filtration barrier and its pathophysiology
Authors: Singh Narendra , Kim Jae Yun , Lee Jae Yeon , Lee Hyungseok , Gao Ge , Jang Jinah , Kim Yong Kyun , Cho Dong-Woo 
Published: February 2022

Abstract
Many efforts have been expended in the emulations of the kidney’s glomerular unit because of its limitless potential in the field of drug screening industry and nephrotoxicity testing in the clinics. Herein, we have fabricated a functional bilayer glomerular microvessel-on-a-chip that recapitulates the specific arrangement of glomerular endothelial cell (GE), podocyte layers, and the intervening glomerular basement membrane (GBM) in a single step. Our perfusable chip allows for the coculture of the monolayer glomerular endothelium and podocyte epithelium that display mature functional markers of glomerular cells, and their proper interactions produce GBM proteins, which are the major components of the GBM in vivo. Furthermore, we tested the selective permeability capacity, a representative hallmark function of the glomerular filtration barrier. Lastly, we evaluated the response of our glomerular model to Adriamycin- and hyperglycemia-induced injury to evaluate its applicability for drug screening and glomerular disease modeling.
Encounters And Management Of Oral Conditions At General Medical Practices In Australia.
Authors: Cheng An-Lun , Eberhard Joerg , Gordon Julie , Balasubramanian Madhan , Willink Amber , Sohn Woosung , Dai Jennifer , Harrison Christopher 
Published: February 2022

Abstract
Background: Poor oral health has been widely recognised as an ongoing public health issue. Patients with oral conditions may visit either a general practitioner (GP) or an oral health practitioner for management. The aims of this study are to report (i) the GP management rate of oral health conditions by patient and GP demographics, (ii) what specific oral conditions were managed, and (iii) how GPs managed oral conditions. Methods: Data from the Bettering the Evaluation and Care of Health study (2006 to 2016 inclusive) were analysed. Descriptive statistics with 95% confidence intervals around point estimates were used to summarise data. Multivariate logistic regression was performed to determine the independent effect of patient and GP characteristics. Results: A total of 972,100 GP encounters were included in the dataset, with oral condition-related encounters managed at a rate of 1.19 oral conditions per 100 GP encounters. Patients who were aged 54 years or younger, resided in a socioeconomically disadvantaged area, came from a non-English speaking background or Indigenous background were more likely to have oral conditions managed by GPs. The most commonly reported oral conditions were dental and oral mucosa-related. Over 60% of oral conditions were managed by GPs through prescribed medications. Conclusions: This study provided an overview of management of oral conditions by GPs in Australia. Patients from certain vulnerable demographic groups were more likely to attend a GP for management of oral conditions. Common oral conditions and management approaches were identified. The findings of this study contribute to public health and health policy discussions around optimising primary care provision in oral health.
MOT: a Multi-Omics Transformer for Multiclass Classification Tumour Types Predictions
Authors: Osseni Mazid Abiodoun , Tossou Prudencio , Laviolette Francois , Corbeil Jacques 
Published: February 2022

Abstract
Motivation: Breakthroughs in high-throughput technologies and machine learning methods have enabled the shift towards multi-omics modeling as the preferred mean to understand the mechanisms underlying biological processes, and to improve complex disease prognosis in clinical settings. However, most multi-omic studies only use transcriptomics and epigenomics due to their over-representation in databases and their early technical maturity compared to others omics. For complex phenotypes and mechanisms, not leveraging all the omics despite their varying degree of availability can lead to a failure to understand the underlying biological mechanisms. Results: We proposed MOT (Multi-Omic Transformer), a deep learning based model using the transformer architecture, that discriminates complex phenotypes (herein cancers types) based on five omics data type regardless of their availability: transcriptomics (mRNA and miRNA), epigenomics (DNA methylation), copy number variations (CNVs), and proteomics. At its core, MOT uses a data augmentation scheme that allows it to handle missing omics views and its attention layers give a macro level of interpretability for each phenotypes. Indeed, MOT identifies the required omic type for the best prediction for each phenotype and therefore could guide clinical decision making when acquiring data to confirm a diagnostic. It achieves an accuracy score of 96.04% after 5-fold cross-validation among 33 tumour types. The newly introduced model can integrate and analyse five different omics data while handling the missing omics views and can also identify the essential omics data for the tumour multiclass classification tasks. Availability and implementation: MOT source code is available at https://github.com/dizam92/multiomic_predictions.
Biomechanical evaluation of a new standard temporomandibular joint prosthesis and screw arrangement optimization: A finite element analysis.
Authors: Zhang Luzhu , Qin Haiyi , Abdelrehem Ahmed , He Dongmei 
Published: February 2022

Abstract
Background: Artificial total joint replacement is an important method of temporomandibular joint (TMJ) reconstruction, which has been advocated for TMJ osteoarthrosis, ankylosis, tumors and other diseases. We designed one type of a standard TMJ prosthesis fit for Chinese patients. This study explores the biomechanical behavior of the standard TMJ prosthesis using finite element analysis and selects an optimal screw arrangement scheme for clinical application. Methods: A female volunteer was recruited for a maxillofacial computed tomography (CT) scan, then the Hypermesh software was used to establish a finite element model of a mandibular condyle defect repaired with an artificial TMJ prosthesis. LS-DYNA software was used to calculate the stress and deformation under a simulated maximum bite force loading. Also, the forces of screws under different numbers and arrangements were analyzed. Meanwhile, we designed an experiment to verify the calculation model.Results: The average maximum stress of the fossa component of the standard prosthesis model was 19.25 MPa. The average maximum stress of the condyle component was 82.58 MPa, mainly concentrated near the top row hole. The fossa component should be fixed with at least 3 screws, and the optimal number of screws was 4. The condyle component should be fixed with at least 4 screws, and its optimal number was 6. The best scheme of screw arrangement was determined. The results of the verification experiment showed that the analysis was reliable.Conclusions: The stress distribution of the standard TMJ prosthesis is uniform, meanwhile, the number and arrangement of the screws significantly affect the contact force of the screws.
Dbias: Detecting biases and ensuring Fairness in news articles
Authors: Raza Shaina , Reji Deepak John , Ding Chen 
Published: February 2022

Abstract
The problem of fairness is garnering a lot of interest in the academic and broader literature due to the increasing use of data-centric systems and algorithms in machine learning. This paper introduces Dbias (https://pypi.org/project/Dbias/), an open-source Python package for ensuring fairness in news articles. Dbias can take any text to determine if it is biased. Then, it detects biased words in the text, masks them, and suggests a set of sentences with new words that are bias-free or at least less biased. We conduct extensive experiments to assess the performance of Dbias. To see how well our approach works, we compare it to the existing fairness models. We also test the individual components of Dbias to see how effective they were. The experimental results show that Dbias outperforms all the baselines in terms of accuracy and fairness. We make this package (Dbias) as publicly available for the developers and practitioners to mitigate biases in textual data (such as news articles), as well as to encourage extension of this work.
Expression quantitative trait locus rs6356 is associated with the susceptibility of heroin addiction by potentially influencing the TH gene expression in the hippocampus and nucleus accumbens
Authors: Wang Kena , Zhang Hongbo , Ji Jinshan , Zhang Rui , Dang Wei , Xie Qiaoli , Zhu Yongsheng , Zhang Jianbo 
Published: February 2022

Abstract
Opioid addiction is a complicated and highly heritable brain disease. Dysfunction of dopaminergic signaling is involved in the pathogenesis of addictive disorders. Encoding the synthetase of dopamine, tyrosine hydroxylase (TH) gene has long been an interesting candidate in the genetic association studies for opioid addiction. However, the underlying mechanism of the association of risk gene variants and opioid addiction remains unknown. In the present study, we first analyzed the association between TH gene variants and susceptibility and traits of heroin addiction in 801 patients with heroin addiction and 930 healthy controls. The methylation level in the promoter region of the TH gene was detected and compared between the heroin addiction and healthy control groups. To reveal the potential mechanism of the association of TH gene variants and heroin addiction, correlation between the risk TH SNPs for heroin addiction and the methylation as well expression level of TH gene were examined. Our results demonstrated that SNP rs6356 was associated with the susceptibility of heroin addiction. CpG TH_15 was hypermethylated in the heroin addiction group compared with the healthy control group. Notably, SNP rs6356 was allele-specific correlated with the expression of TH gene in the hippocampus and nucleus accumbens, but not the methylation level of CpG TH_15. Our findings suggest that the eQTL rs6356 was associated with the risk of heroin addiction by potentially affecting the expression of TH gene in the mesocorticolimbic dopamine system brain regions including hippocampus and nucleus accumbens.
Global Magnitude and Temporal Trend of Mesothelioma Burden Along with the Contribution of Occupational Asbestos Exposure in 204 Countries and Territories From 1990 to 2019: Results from the Global Burden of Disease Study 2019
Authors: Han Yali , Zhang Tongchao , Chen Hui , Yang Xiaorong 
Published: February 2022

Abstract

Background
Understanding the annual incidence, mortality, and disability-adjusted life-years (DALYs) for mesothelioma globally provides essential foundations for cancer control, policy decisions and resource allocation.
Materials and methods
Complying with the Global Burden of Disease Study 2019, we extracted the data of incidences, deaths and DALYs in 204 countries and territories from 1990 to 2019. Average annual percentage changes were used to quantify the temporal trends in mesothelioma burden. Besides, the population attributable fractions of the risk factor of mesothelioma were also estimated.
Results
Globally, 34511 (95% uncertainty intervals[UI]: 31199, 37771) incident cases, 29251 (95%UI: 26668, 31006) deaths and 668104 (95%UI: 608269, 716475) DALYs of mesothelioma were estimated in 2019. The age-standardized rates of incidence, mortality and DALYs all showed a slightly declining trend over the past 30 years, but the latest absolute number of mesothelioma burden almost doubled since 1990. The age-standardized burden of mesothelioma among men was around 3 times more than women in 2019, which decreased among women while remained stable among men. The burden rate decreased among the population aged under 70 years, but increased among the population aged over 80 years, especially in the High socio-demographic index (SDI) region. The age-standardized DALYs rate (ASDR) of mesothelioma attributable to occupational asbestos exposure in 2019 was positively associated with SDI at the national levels (ρ = 0.3105, P = 6.2e-06).
Conclusion
This study depicted a continuous increase in incidences, deaths and DALYs of mesothelioma globally over the past 30 years. Controlling occupational asbestos exposure will reduce the mesothelioma burden, especially for higher SDI regions.
Lung Ultrasound Targeted Recruitment (LUSTR): A Novel Protocol to Optimize Open Lung Ventilation In Critically Ill Neonates.
Authors: Chioma Roberto , Amabili Lorenzo , Ciarmoli Elena , Copetti Roberto , Villani Pier Giorgio , Stella Marcello , Natile Miria , Ancora Gina , Vento Giovanni , Storti Enrico , Pierro Maria 
Published: February 2022

Abstract
PurposeThe objective of this study was to investigate the effectiveness of an original Lung UltraSound Targeted Recruitment (LUSTR) protocol to improve the success of lung recruitment maneuvers (LRMs), performed as a rescue approach in critically ill neonates, as compared to the standard oxygenation-guided LRM.MethodsAll the LUSTR maneuvers, performed in infants with oxygen saturation/fraction of inspired oxygen (S/F) ratio below 200, were included in this retrospective case-control study (LUSTR-group). The LUSTR-group was matched by the initial S/F ratio (which is inversely proportional to the severity of the respiratory insufficiency) and underlying respiratory disease with a control group of lung recruitments performed following the standard oxygenation-guided procedure (Ox-group). The primary outcome was the improvement of the S/F ratio (Delta S/F) throughout the LRM. Secondary outcomes included the variation of the Oxygen Saturation Index (OSI) and the rate of air-leaks.ResultsEach group was constituted by fourteen LRMs. As compared to the standard approach, the LUSTR protocol was associated with a higher success of the procedure in terms of Delta S/F (110±47.3 vs 64.1±54.6, p = 0.02), and OSI (8.2±6.8 vs 2.8±2.2, p = 0.01). These results remained significant after adjusting for confounding variables through multiple linear regressions. All the LRM in the LUSTR group showed signs of lung recruitability and obtained the sonographic resolution of the lung derecruitment. Patient position before and during LRM was modified more frequently in the LUSTR group. A trend towards decreased rates of pneumothorax was observed in the LUSTR-group (0 vs 14.3%, p = 0.15).ConclusionThe LUSTR protocol may be a more effective and potentially safer option than the oxygenation-based procedure to guide open lung ventilation in neonates.
Aldehyde dehydrogenase 2 activator augments the beneficial effects of empagliflozin in diabetes associated HFpEF
Authors: Palaniyandi Suresh Selvaraj , Pan Guodong , Roy Bipradas , Giri Shailendra , Lanfear David E , Thandavarayan Rajarajan A. , Guha Ashrith , Ortiz Pablo 
Published: February 2022

Abstract
Objectives: To ameliorate diabetes mellitus associated heart failure with preserved ejection fraction (HFpEF), we plan to lower diabetes-mediated oxidative stress-induced 4-hydroxy-2-nonenal (4HNE) accumulation by pharmacological agents that either decrease 4HNE generation or increase its detoxification.Background: 4HNE, a cellular reactive carbonyl species (RCS), was significantly increased in diabetic hearts due to a diabetes-induced decrease in 4HNE detoxification by aldehyde dehydrogenase (ALDH)2, a cardiac mitochondrial enzyme that metabolizes 4HNE. Therefore, hyperglycemia-induced 4HNE is critical for diabetes-mediated cardiotoxicity and we hypothesize that lowering 4HNE ameliorates diabetes associated HFpEF. Methods: We fed high-fat diet to ALDH2*2 mice which have intrinsically low ALDH2 activity to induce type-2 diabetes. After 4 months of diabetes, the mice exhibited features of HFpEF and along with increased 4HNE adducts and we treated them with vehicle, empagliflozin (EMP) (3mg/kg/d) to reduce 4HNE and Alda-1 (10mg/kg/d), an ALDH2 activator to enhance ALDH2 activity as well as a combination of EMP + Alda-1 (E + A), via subcutaneous osmotic pumps. After 2 months of treatments, cardiac function was assessed by conscious echocardiography before and after exercise stress. Results: EMP + Alda-1 improved exercise tolerance, diastolic and systolic function, 4HNE detoxification and cardiac liver kinase B1 (LKB1)-AMP-activated protein kinase (AMPK) pathway in ALDH2*2 mice with diabetes associated HFpEF. This combination was even more effective than EMP alone. Conclusions: Our data indicate that ALDH2 activation along with the treatment of hypoglycemic agents may be a salient strategy to alleviate diabetes associated HFpEF.
Knee Joint Moments Can Accurately Predict Medial and Lateral Knee Contact Forces in Patients With Valgus Malalignment
Authors: Holder Jana , Drongelen Stefan , Uhlrich Scott David , Herrmann Eva , Meurer Andrea , Stief Felix 
Published: February 2022

Abstract
Compressive knee joint contact force during walking is thought to be related to initiation and progression of knee osteoarthritis. However, joint loading is often evaluated with surrogate measures, like the external knee adduction moment, due to the complexity of computing joint contact forces. Statistical models have shown promise for predicting joint contact force from easily measured joint moments in individuals with osteoarthritis or joint replacements. This approach may also be effective in young patients with valgus deformities. The purpose of this study was to evaluate how accurately medial and lateral knee joint contact forces could be estimated by linear mixed-effects models during walking for children with and without valgus malalignment. Knee joint moments were strongly correlated (R2 > 0.85, p < 0.001) with both medial and lateral knee joint contact forces. The knee flexion and adduction moments were significant covariates in most of the models, strengthening the understanding of the contribution of both moments to medial and lateral knee joint contact force. In the future, these models could be used to predict knee joint contact forces using joint moments from motion capture software, obviating the need for time-consuming musculoskeletal simulations.