bluuebunny/crossref_metadata_2025_split huggingface dataset:
Perceived Barriers to Comprehensive Cleft Care Delivery
Authors: Kantar Rami S. , Breugem Corstiaan C. , Alfonso Allyson R. , Keith Kristen , Kassam Serena , Annan Beyhan , Chahine Elsa M. , Wasicek Philip J. , Patel Krishna G. , Flores Roberto L. , Hamdan Usama S. 
Published: December 2020

Introduction
We analyzed the perceptions of participants and faculty members in simulation-based comprehensive cleft care workshops regarding comprehensive cleft care delivery in developing countries.

Methods
Data were collected from participants and faculty members in 2 simulation-based comprehensive cleft care workshops organized by Global Smile Foundation. We collected demographic data and surveyed what they believed was the most significant barrier to comprehensive cleft care delivery and the most important intervention to deliver comprehensive cleft care in developing countries. We also compared participant and faculty responses.

Results
The total number of participants and faculty members was 313 from 44 countries. The response rate was 57.8%. The majority reported that the most significant barrier facing the delivery of comprehensive cleft care in developing countries was financial (35.0%), followed by the absence of multidisciplinary cleft teams (30.8%). The majority reported that the most important intervention to deliver comprehensive cleft care was creating multidisciplinary cleft teams (32.2%), followed by providing cleft training (22.6%). We found no significant differences in what participants and faculty perceived as the greatest barrier to comprehensive cleft care delivery (P = 0.46), or most important intervention to deliver comprehensive cleft care in developing countries (P = 0.38).

Conclusions
Our study provides an appraisal of barriers facing comprehensive cleft care delivery and interventions required to overcome these barriers in developing countries. Future studies will be critical to validate or refute our findings, as well as determine country-specific roadmaps for delivering comprehensive cleft care to those who need it the most.
Updates on ophthalmic imaging features of optic disc drusen, papilledema, and optic disc edema
Authors: Yan Yan , Liao Yaping Joyce 
Published: December 2020

Purpose of review
Optic nerve head elevation can be associated with vision loss. This review provides an update regarding key features of optic disc drusen (ODD) compared with papilledema from increased intracranial pressure and optic disc edema from other causes.

Recent findings
Clinical history and funduscopic examination are not sufficient to correctly diagnose different causes of optic nerve head elevation. Multimodal ophthalmic imaging is noninvasive and should be used as first-line diagnostic testing to distinguish optic disc edema or papilledema from pseudoedema. Advanced ophthalmic imaging, including enhanced depth imaging optical coherence tomography (EDI-OCT) and autofluorescence imaging, can visualize ODD at high resolution and determine whether there is optic disc edema. OCT angiography does not require contrast and can rapidly visualize papillary, peripapillary, and macular microvasculature and identify important vascular biomarker of ischemia and, potentially, visual prognosis.

Summary
Multimodal ophthalmic imaging can help in the diagnosis of ODD and optic disc edema and identify patients at high risk of vision loss and neurological issues in order to ensure appropriate diagnosis and treatment.
Retinal disease in the neurology clinic
Authors: Tauscher Robert G. , Simon Shira S. , Volpe Nicholas J. 
Published: December 2020

Purpose of review
Retinal disease can manifest with visual symptoms similar to those which result from central nervous system disorders. We provide a framework for considering retinal causes of common visual complaints presenting to a neurology clinic.

Recent findings
Technological advances have afforded quicker detection and a more thorough understanding of these retinal entities and are crucial to consider when evaluating visual complaints in the neurology clinic.

Summary
It is essential to maintain a working knowledge of common retinal conditions that symptomatically overlap with common neurologic conditions. Furthermore, the ophthalmoscopic exam and retinal imaging modalities can both aid in the diagnosis and workup of visual complaints and neurologic disease.
Digital health in stroke medicine: what are the opportunities for stroke patients?
Authors: Antonenko Kateryna , Paciaroni Maurizio , Sokolova Larysa , Pezzella Francesca R. 
Published: December 2020

Purpose of review
The European Stroke Organisation published a European Stroke Action Plan (SAP-E) for the years 2018–2030. The SAP-E addresses the entire chain of care from primary prevention through to life after stroke. Within this document digital health tools are suggested for their potential to facilitate greater access to stroke care. In this review, we searched for digital health solutions for every domain of the SAP-E.

Recent findings
Currently available digital health solutions for the cerebrovascular disease have been designed to support professionals and patients in healthcare settings at all stages. Telemedicine in acute settings has notably increased the access to tissue plasminogen activator and thrombectomy whereas in poststroke settings it has improved access to rehabilitation. Moreover, numerous applications aim to monitor vital signs and prescribed treatment adherence.

Summary
SAP-E with its seven domains covers the whole continuum of stroke care, where digital health solutions have been considered to provide utility at a low cost. These technologies are progressively being used in all phases of stroke care, allowing them to overcome geographical and organizational barriers. The commercially available applications may also be used by patients and their careers in various context to facilitate accessibility to health improvement strategies.
Neuroimaging in attention-deficit/hyperactivity disorder
Authors: Pereira-Sanchez Victor , Castellanos Francisco X. 
Published: December 2020

Purpose of review
Neuroimaging research on attention-deficit/hyperactivity disorder (ADHD) continues growing in extent and complexity, although it has yet to become clinically meaningful. We review recent MRI research on ADHD, to identify robust findings, current trends and challenges.

Recent findings
We identified 40 publications between January 2019 and September 2020 reporting or reviewing MRI research on ADHD. Four meta-analyses have presented conflicting results regarding across-study convergence of functional and resting-state functional (fMRI and R-fMRI) studies on ADHD. On the other hand, the Enhancing NeuroImaging Genetics Through Meta-Analysis international consortium has identified statistically robust albeit small differences in structural brain cortical and subcortical indices in children with ADHD versus typically developing controls. Other international consortia are harnessing open-science efforts and multimodal data (imaging, genetics, phenotypic) to shed light on the complex interplay of genetics, environment, and development in the pathophysiology of ADHD. We note growing research in ‘prediction’ science, which applies machine-learning analysis to identify biomarkers of disease based on big data.

Summary
Neuroimaging in ADHD is still far from informing clinical practice. Current large-scale, multimodal, and open-science initiatives represent promising paths toward untangling the neurobiology of ADHD.
Genome-wide transcriptomic analysis of intestinal mucosa in celiac disease patients on a gluten-free diet and post gluten challenge
Authors: Dotsenko Valeriia , Oittinen Mikko , Taavela Juha , Popp Alina , Peräaho Markku , Staff Synnöve , Sarin Jani , Leon Francisco , Isola Jorma , Mäki Markku , Viiri Keijo 
Published: December 2020

AbstractBackground & AimsGluten challenge studies are instrumental in understanding the pathophysiology of celiac disease. Our aims in this study were to reveal early gluten-induced transcriptomic changes in duodenal biopsies and to find tools for clinics.MethodsDuodenal biopsies were collected from 15 celiac disease patients on a strict long-term gluten-free diet (GFD) prior to and post a gluten challenge (PGC) and from 6 healthy control individuals (DC). Biopsy RNA was subjected to genome-wide 3’ RNA-Seq. Sequencing data was used to determine the differences between the three groups and was compared to sequencing data from the public repositories. The biopsies underwent morphometric analyses.ResultsIn DC vs. GFD group comparisons, 167 differentially expressed genes were identified with 117 genes downregulated and 50 genes upregulated. In PGC vs. GFD group comparisons, 417 differentially expressed genes were identified with 195 genes downregulated and 222 genes upregulated. Celiac disease patients on a GFD were not “healthy”. In particular, genes encoding proteins for transporting small molecules were expressed less. In addition to the activation of immune response genes, a gluten challenge induced hyperactive intestinal wnt-signaling and consequent immature crypt gene expression resulting in less differentiated epithelium. Biopsy gene expression in response to a gluten challenge correlated with the extent of the histological damage. Regression models using only four gene transcripts described 97.2% of the mucosal morphology and 98.0% of the inflammatory changes observed.ConclusionsOur gluten challenge trial design provided an opportunity to study the transition from health to disease. The results show that even on a strict GFD, despite being deemed healthy, patients reveal patterns of ongoing disease. Here, a transcriptomic regression model estimating the extent of gluten-induced duodenal mucosal injury is presented.
Post-infectious inflammatory disease in MIS-C features elevated cytotoxicity signatures and autoreactivity that correlates with severity
Authors: Ramaswamy Anjali , Brodsky Nina N. , Sumida Tomokazu S. , Comi Michela , Asashima Hiromitsu , Hoehn Kenneth B. , Li Ningshan , Liu Yunqing , Shah Aagam , Ravindra Neal G. , Bishai Jason , Khan Alamzeb , Lau William , Sellers Brian , Bansal Neha , Guerrerio Pamela , Unterman Avraham , Habet Victoria , Rice Andrew J. , Catanzaro Jason , Chandnani Harsha , Lopez Merrick , Kaminski Naftali , Dela Cruz Charles S. , Tsang John S. , Wang Zuoheng , Yan Xiting , Kleinstein Steven H. , van Dijk David , Pierce Richard W. , Hafler David A. , Lucas Carrie L. 
Published: December 2020

SUMMARYMultisystem inflammatory syndrome in children (MIS-C) is a life-threatening post-infectious complication occurring unpredictably weeks after mild or asymptomatic SARS-CoV2 infection in otherwise healthy children. Here, we define immune abnormalities in MIS-C compared to adult COVID-19 and pediatric/adult healthy controls using single-cell RNA sequencing, antigen receptor repertoire analysis, unbiased serum proteomics, andin vitroassays. Despite no evidence of active infection, we uncover elevated S100A-family alarmins in myeloid cells and marked enrichment of serum proteins that map to myeloid cells and pathways including cytokines, complement/coagulation, and fluid shear stress in MIS-C patients. Moreover, NK and CD8 T cell cytotoxicity genes are elevated, and plasmablasts harboring IgG1 and IgG3 are expanded. Consistently, we detect elevated binding of serum IgG from severe MIS-C patients to activated human cardiac microvascular endothelial cells in culture. Thus, we define immunopathology features of MIS-C with implications for predicting and managing this SARS-CoV2-induced critical illness in children.
Predictive modeling of morbidity and mortality in COVID-19 hospitalized patients and its clinical implications
Authors: Wang Joshua M. , Liu Wenke , Chen Xiaoshan , McRae Michael P. , McDevitt John T. , Fenyö David 
Published: December 2020

ABSTRACTClinical activity of 3740 de-identified COVID-19 positive patients treated at NYU Langone Health (NYULH) were collected between January and August 2020. XGBoost model trained on clinical data from the final 24 hours excelled at predicting mortality (AUC=0.92, specificity=86% and sensitivity=85%). Respiration rate was the most important feature, followed by SpO2 and age 75+. Performance of this model to predict the deceased outcome extended 5 days prior with AUC=0.81, specificity=70%, sensitivity=75%. When only using clinical data from the first 24 hours, AUCs of 0.79, 0.80, and 0.77 were obtained for deceased, ventilated, or ICU admitted, respectively. Although respiration rate and SpO2 levels offered the highest feature importance, other canonical markers including diabetic history, age and temperature offered minimal gain. When lab values were incorporated, prediction of mortality benefited the most from blood urea nitrogen (BUN) and lactate dehydrogenase (LDH). Features predictive of morbidity included LDH, calcium, glucose, and C-reactive protein (CRP). Together this work summarizes efforts to systematically examine the importance of a wide range of features across different endpoint outcomes and at different hospitalization time points.
Engineering Analysis of Aortic Wall Stress in the Surgery of V-shape Resection of the Noncoronary Sinus
Authors: Dong Hai , Liu Minliang , Qin Tongran , Liang Liang , Ziganshin Bulat , Ellauzi Hesham , Zafar Mohammad , Jang Sophie , Elefteriades John , Sun Wei 
Published: December 2020

AbstractAscending aortic aneurysms often include the sinotubular junction (STJ) and extend into the root portion of the aorta. The novel surgery of the V-shape resection of the noncoronary sinus of the aortic root has been shown to be a simpler procedure, comparing with traditional surgeries such as full aortic root replacement, for patients with moderate ascending aortic aneurysm and aortic root ectasia. This novel surgery could reduce the diameter and cross-sectional area of the aortic root. However, the detailed effect on the stress field and the rupture risk of the aortic root and aneurysm has not been fully investigated. In this study, we performed patient-specific finite element (FE) analysis based on the 3D geometries of the aortic root and ascending aortic aneurysm, reconstructed directly from the clinical computed tomographic (CT) images. By comparing the pre- and post-surgery results, we investigated the influence of the V-shape surgery on the stress field and rupture risk of the aortic root, ascending aortic aneurysm and aortic arch. It was found that the surgery could significantly reduce the wall stress of the aortic root, ascending aortic aneurysm, as well the aortic arch, and hence lower the rupture risk.
The impact of population-wide rapid antigen testing on SARS-CoV-2 prevalence in Slovakia
Authors: Pavelka Martin , Van-Zandvoort Kevin , Abbott Sam , Sherratt Katharine , Majdan Marek ,   CMMID COVID-19 working group, Analýz Inštitút Zdravotných , Jarčuška Pavol , Krajčí Marek , Flasche Stefan , Funk Sebastian 
Published: December 2020

AbstractSlovakia conducted multiple rounds of population-wide rapid antigen testing for SARS-CoV-2 in late 2020, combined with a period of additional contact restrictions. Observed prevalence decreased by 58% (95% CI: 57-58%) within one week in the 45 counties that were subject to two rounds of mass testing, an estimate that remained robust when adjusting for multiple potential confounders. Adjusting for epidemic growth of 4.4% (1.1-6.9%) per day preceding the mass testing campaign, the estimated decrease in prevalence compared to a scenario of unmitigated growth was 70% (67-73%). Modelling suggests that this decrease cannot be explained solely by infection control measures, but requires the additional impact of isolation as well as quarantine of household members of those testing positive.
Targeting multicopy prophage genes for the differential diagnosis of Lyme disease
Authors: Shan Jinyu , Jia Ying , Teulières Louis , Patel Faizal , Clokie Martha R.J. 
Published: December 2020

AbstractThe successful treatment of Lyme disease (LD) requires an accurate diagnostic test; however, most tests are insensitive and unspecific. To overcome these challenges, we developed and validated an internally-controlled quantitative PCR (Ter-qPCR) that targets the multicopy terminase large subunit (terL) gene encoded by prophages that are only found in LD-causing bacteria. TheterLprotein helps phages pack their DNA. Strikingly, the detection limit of the Ter-qPCR was analytically estimated to be 22 copies and one bacterial cell in bacteria spiked blood. Furthermore, significant quantitative differences in terms of the amount ofterLdetected in healthy individuals and patients with either early or late disease. Together, the data suggests that the prophage-targeting PCR has significant power to provide a differential diagnosis for LD. Prophage encoded markers are prevalent in many other pathogenic bacteria rendering this approach highly applicable to bacterial identification in general, potentially revolutionising the detection of disease.
The contribution of evolutionary game theory to understanding and treating cancer
Authors: Wölfl Benjamin , te Rietmole Hedy , Salvioli Monica , Kaznatcheev Artem , Thuijsman Frank , Brown Joel S. , Burgering Boudewijn , Staňková Kateřina 
Published: December 2020

AbstractEvolutionary game theory mathematically conceptualizes and analyzes biological interactions where one’s fitness not only depends on one’s own traits, but also on the traits of others. Typically, the individuals are not overtly rational and do not select, but rather inherit their traits. Cancer can be framed as such an evolutionary game, as it is composed of cells of heterogeneous types undergoing frequency-dependent selection. In this article, we first summarize existing works where evolutionary game theory has been employed in modeling cancer and improving its treatment. Some of these game-theoretic models suggest how one could anticipate and steer cancer’s eco-evolutionary dynamics into states more desirable for the patient via evolutionary therapies. Such therapies offer great promise for increasing patient survival and decreasing drug toxicity, as demonstrated by some recent studies and clinical trials. We discuss clinical relevance of the existing game-theoretic models of cancer and its treatment, and opportunities for future applications. Moreover, we discuss the developments in cancer biology that are needed to better utilize the full potential of game-theoretic models. Ultimately, we demonstrate that viewing tumors with an evolutionary game theory approach has medically useful implications that can inform and create a lockstep between empirical findings and mathematical modeling. We suggest that cancer progression is an evolutionary game and needs to be viewed as such.
ABO-RH blood group and risk of covid-19 in a moroccan population
Authors: Belaouni Mourad , Malki Elhoucine , Bahraouy Rabii El , Maliki Bouchra El , Er-Rami Mohammed , Louzi Houcine , Lahmadi Khalid 
Published: December 2020

AbstractIntroductionGiven the rapid spread, significant morbidity and mortality associated with COVID-19, there has been scientific interest in obtaining data detailing the factors influencing the risk of COVID-19 infection. The aim of this study was to reveal a possible association between the ABO-RH system and the risk of COVID-19 in the Moroccan population.Materials and methodsThis is an analytical cross-sectional study. It was carried out on 1094 patients for the diagnosis of Covid-19 by Rt-PCR at the Moulay Ismaïl military hospital in the province of Meknes. All Rt-PCR negative individuals were used as a comparison group.ResultsAmong the 1094 individuals who were diagnosed, RT-PCR for detection of SARS-CoV-2 was positive for 242 individuals. Comparison of the proportions of blood groups of the two groups showed that the proportion of blood group A in patients with COVID-19 was significantly higher than in people in the comparison group (P = 0.007), while the proportion of blood group O in patients with COVID-19 was significantly lower than in people in the control group (P = 0.017). Comparison of the Rh blood groups of the two groups did not find a significant association (P = 0.608).ConclusionAs demonstrated by several previous studies, we concluded that blood group A was associated with a higher risk of acquiring COVID-19. Equally, the O blood group was associated with a lower risk of infection.
Computational estimates of mitral annular diameter in systole and diastole cardiac cycle reveal novel genetic determinants of valve function and disease
Authors: Yu Mengyao , Tcheandjieu Catherine , Georges Adrien , Xiao Ke , Tejeda Helio , Dina Christian , Le Tourneau Thierry , Fiterau Ina ,   Regeneron Genetics Center, Judy Renae , Tsao Noah , Amgalan Dulguun , Munger Chad J , Engreitz Jesse M , Damrauer Scott , Bouatia-Naji Nabila , Priest James R. 
Published: December 2020

ABSTRACTThe fibrous annulus of the mitral valve defines the functional orifice and anchors the anterior and posterior leaflets, playing an important role in normal cardiovascular physiology and valvular function. We derived automated estimates of mitral valve annular diameter in the 4-chamber view from 32,220 MRI images from the UK Biobank at ventricular systole and diastole as the basis for genome wide association studies. Mitral annular dimensions correspond to previously described anatomical norms and GWAS inclusive of four population strata identify ten loci, including novel loci (GOSR2, ERBB4, MCTP2, MCPH1) and genes related to cardiac contractility (BAG3, TTN, RBFOX1). ATAC-seq of primary mitral valve tissue localize multiple variants to regions of open chromatin in biologically relevant cell types and rs17608766 to an algorithmically predicted enhancer element in GOSR2. We observed strong genetic correlation with measures of contractility and mitral valve disease, and clinical correlations with heart failure, cerebrovascular disease, and ventricular arrythmias. A polygenic score of mitral valve annular diameter in systole was predictive of risk mitral valve prolapse across four cohorts (Odds ratio 1.19 per SD increase in polygenic score, 95% confidence interval 1.14 to 1.24, p=4.9E-11). In summary genetic and clinical studies of mitral valve annular diameter reveal new genetic determinants of mitral valve biology while highlighting known and previously unrecognized clinical associations. Polygenic determinants of mitral valve annular diameter may represent an independent risk-factor for mitral prolapse. Overall, computationally estimated phenotypes derived at scale from medical imaging represent an important substrate for genetic discovery and clinical risk prediction.