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Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder.

Hum Mutat 2021 Jun 22. Epub 2021 Jun 22.

Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

SYNCRIP encodes for the Synaptotagmin-binding cytoplasmic RNA-interacting protein, involved in RNA-binding and regulation of multiple cellular pathways. It has been proposed as a candidate gene for neurodevelopmental disorders (NDDs) with autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. We ascertained genetic, clinical, and neuroradiological data of three additional individuals with novel de novo SYNCRIP variants. Read More

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[Biomarkers for renal cell tumours].

Aktuelle Urol 2021 Jun 22. Epub 2021 Jun 22.

Klinik für Urologie und Kinderurologie, Universitätsklinikum des Saarlandes, Homburg/Saar.

During the last three decades, renal tumours have become increasingly well differentiated on the basis of their histopathological and molecular features. This subtyping has increasingly impacted clinical practice because more therapeutic options are available in organ-confined and metastatic renal cell tumours. The knowledge of the underlying molecular alterations is essential to develop molecular targeted therapies and to select the most effective systemic therapy for each patient. Read More

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A deep learning framework with multi-perspective fusion for interictal epileptiform discharges detection in scalp electroencephalogram.

J Neural Eng 2021 Jun 22. Epub 2021 Jun 22.

BeiHang University School of Biological Science and Medical Engineering, No. 37 Xueyuan Road, Haidian District, Beijing, Beijing, 100191, CHINA.

Objective: Interictal epileptiform discharges (IEDs) are an important and widely accepted biomarker used in the diagnosis of epilepsy based on scalp electroencephalography (EEG). Because the visual detection of IEDs has various limitations, including high time consumption and high subjectivity, a faster, more robust, and automated IED detector is strongly in demand.

Approach: Based on deep learning, we proposed an end-to-end framework with multi-scale morphologic features in the time domain and correlation in sensor space to recognize IEDs from raw scalp EEG. Read More

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Deoxyribonuclease 1-like 3 may be a potential prognostic biomarker associated with immune infiltration in colon cancer.

Aging (Albany NY) 2021 Jun 22;13. Epub 2021 Jun 22.

Department of Laboratory Medicine, Guangdong Second Provincial General Hospital, Guangzhou 510317, China.

Colon adenocarcinoma (COAD) is a common cancer of the digestive system. It's high morbidity and mortality make it one of the leading causes of cancer deaths. In this study, we studied the microenvironment of colon cancer to find new diagnostic markers and immunotherapy targets for colon cancer. Read More

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Identifying genetic risk variants associated with noise-induced hearing loss based on a novel strategy for evaluating individual susceptibility.

Hear Res 2021 Jun 6;407:108281. Epub 2021 Jun 6.

Department of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, 600 Yishan Road, Shanghai 200233, China; Otolaryngology Institute of Shanghai Jiao Tong University, Shanghai 200233, China; Shanghai Key Laboratory of Sleep Disordered Breathing, Shanghai 200233, China.

Background: The overall genetic profile for noise-induced hearing loss (NIHL) remains elusive. Herein we proposed a novel machine learning (ML) based strategy to evaluate individual susceptibility to NIHL and identify the underlying genetic risk variants based on a subsample of participants with extreme phenotypes.

Methods: Five features (age, sex, cumulative noise exposure [CNE], smoking, and alcohol drinking status) of 5,539 shipbuilding workers from large cross-sectional surveys were included in four ML classification models to predict their hearing levels. Read More

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HiAM: A Hierarchical Attention based Model for knowledge graph multi-hop reasoning.

Neural Netw 2021 Jun 9;143:261-270. Epub 2021 Jun 9.

University of Chinese Academy of Sciences, Beijing 100049, China; Institute of Information Engineering, Chinese Academy of Sciences, Beijing 100093, China. Electronic address:

Learning to reason in large-scale knowledge graphs has attracted much attention from research communities recently. This paper targets a practical task of multi-hop reasoning in knowledge graphs, which can be applied in various downstream tasks such as question answering, and recommender systems. A key challenge in multi-hop reasoning is to synthesize structural information (e. Read More

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Effective and direct control of neural TTS prosody by removing interactions between different attributes.

Neural Netw 2021 Jun 11;143:250-260. Epub 2021 Jun 11.

Audio, Speech and Language Processing Group ([email protected]), School of Computer Science, Northwestern Polytechnical University, Xi'an, China. Electronic address:

End-to-end TTS advancement has shown that synthesized speech prosody can be controlled by conditioning the decoder with speech prosody attribute labels. However, to annotate quantitatively the prosody patterns of a large set of training data is both time consuming and expensive. To use unannotated data, variational autoencoder (VAE) has been proposed to model individual prosody attribute as a random variable in the latent space. Read More

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A novel density-based neural mass model for simulating neuronal network dynamics with conductance-based synapses and membrane current adaptation.

Neural Netw 2021 Jun 11;143:183-197. Epub 2021 Jun 11.

Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan. Electronic address:

Despite its success in understanding brain rhythms, the neural mass model, as a low-dimensional mean-field network model, is phenomenological in nature, so that it cannot replicate some of rich repertoire of responses seen in real neuronal tissues. Here, using a colored-synapse population density method, we derived a novel neural mass model, termed density-based neural mass model (dNMM), as the mean-field description of network dynamics of adaptive exponential integrate-and-fire (aEIF) neurons, in which two critical neuronal features, i.e. Read More

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Correlating subword articulation with lip shapes for embedding aware audio-visual speech enhancement.

Neural Netw 2021 Jun 8;143:171-182. Epub 2021 Jun 8.

School of Electrical and Computer Engineering, Georgia Institute of Technology, Atlanta, GA, USA.

In this paper, we propose a visual embedding approach to improve embedding aware speech enhancement (EASE) by synchronizing visual lip frames at the phone and place of articulation levels. We first extract visual embedding from lip frames using a pre-trained phone or articulation place recognizer for visual-only EASE (VEASE). Next, we extract audio-visual embedding from noisy speech and lip frames in an information intersection manner, utilizing a complementarity of audio and visual features for multi-modal EASE (MEASE). Read More

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Intra-scanner repeatability of quantitative imaging features in a 3D printed semi-anthropomorphic CT phantom.

Eur J Radiol 2021 Jun 9;141:109818. Epub 2021 Jun 9.

Department of Radiology, Charité - Universitätsmedizin Berlin, Germany; Berlin Institute of Health, Berlin, Germany.

Objectives: Radiomics has shown to provide novel diagnostic and predictive disease information based on quantitative image features in study settings. However, limited data yielded contradictory results and important questions regarding the validity of the methods remain to be answered. The purpose of this study was to evaluate how clinical imaging techniques affect the stability of radiomics features by using 3D printed anthropomorphic CT phantom to test for repeatability and reproducibility of quantitative parameters. Read More

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Feasibility of using an automated analysis of formulation effort in patients' spoken seizure descriptions in the differential diagnosis of epileptic and nonepileptic seizures.

Seizure 2021 Jun 13;91:141-145. Epub 2021 Jun 13.

Academic Neurology Unit, University of Sheffield, Royal Hallamshire Hospital, Sheffield, United Kingdom.

Objective: There are three common causes of Transient Loss of Consciousness (TLOC), syncope, epileptic and psychogenic nonepileptic seizures (PNES). Many individuals who have experienced TLOC initially receive an incorrect diagnosis and inappropriate treatment. Whereas syncope can be distinguished relatively easily with a small number of "yes"/"no" questions, the differentiation of the other two causes of TLOC is more challenging. Read More

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Applying Spike-density component analysis for high-accuracy auditory event-related potentials in children.

Clin Neurophysiol 2021 May 29;132(8):1887-1896. Epub 2021 May 29.

Center for Music in the Brain, Department of Clinical Medicine, Aarhus University and Royal Academy of Music, Aarhus/Aalborg, Universitetsbyen 3, 8000 Aarhus C, Denmark; Department of Education, Psychology, Communication, University of Bari Aldo Moro, Italy.

Objective: Overlapping neurophysiological signals are the main obstacle preventing from using cortical auditory event-related potentials (AEPs) in clinical settings. Children AEPs are particularly affected by this problem, as their cerebral cortex is still maturing. To overcome this problem, we applied a new version of Spike-density Component Analysis (SCA), an analysis method recently developed, to isolate with high accuracy the neural components of auditory responses of 8-year-old children. Read More

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The association of phasic irritability (aggressive outbursts) and tonic irritability (irritable mood) to depression occurrences, symptoms, and subtypes.

J Affect Disord 2021 Jun 11;293:9-18. Epub 2021 Jun 11.

Vanderbilt University, Nashville, Tennessee.

Background: Research among adults has rarely differentiated between tonic irritability (i.e., irritable mood) and phasic irritability (i. Read More

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Guideline interval: A new time interval in the diagnostic pathway for symptomatic cancer.

Cancer Epidemiol 2021 Jun 19;73:101969. Epub 2021 Jun 19.

College House, University of Exeter Medical School, St Luke's Campus, Heavitree Road, Exeter, EX1 2LU, UK. Electronic address:

Background: A standard measure of the cancer diagnostic pathway, diagnostic interval, is the time from "first presentation of cancer" to diagnosis. Cancer presentation may be unclear in patients with multimorbidity or non-specific symptoms, signs or test results ("features"). We propose an alternative, guideline interval, with a more certain start date; namely, when the patient first meets suspected-cancer criteria for investigation or referral. Read More

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The role of vascular inflammation markers in deficiency of adenosine deaminase 2.

Semin Arthritis Rheum 2021 Apr 28;51(4):839-844. Epub 2021 Apr 28.

Department of Pediatrics, Division of Rheumatology, Hacettepe University School of Medicine, Ankara, Turkey; Pediatric Rheumatology Unit, Translational Medicine Laboratories, Hacettepe University, Ankara, Turkey. Electronic address:

Objectives: The first objective was to assess the role of vascular inflammatory factors in the pathogenesis of deficiency of adenosine deaminase 2 (DADA2) and to compare these markers among DADA2 patients with different phenotypes. We also aimed to investigate differences between DADA2 patients with vasculitic features and classic polyarteritis nodosa (PAN) for the aforementioned markers.

Methods: The study included eighteen DADA2 patients, ten PAN patients, and eight healthy controls. Read More

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Methotrexate treatment in hand osteoarthritis refractory to usual treatments: A randomised, double-blind, placebo-controlled trial.

Semin Arthritis Rheum 2021 May 6;51(4):831-838. Epub 2021 May 6.

Department of Rheumatology, Pasteur Hospital, Nice University Hospital, Cote d'Azur University, Nice F-06000, France; Department of Rheumatology, University of Cote d'Azur, Nice Hospital, Laboratory LAMHESS, EA6312, IBV CNRS IMR 7277 INSERM U1091 UNS, France.

Objective: To examine the effect of methotrexate (MTX) on pain and structural progression in symptomatic erosive hand osteoarthritis (HOA).

Methods: This 1-year prospective, single-centre, randomised, double-blind, placebo-controlled study (www.ClinicalTrial. Read More

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Differential diagnosis and treatment of salivary secretory carcinoma and acinic cell carcinoma.

Oral Oncol 2021 Jun 19;119:105370. Epub 2021 Jun 19.

Department of Medical Oncology, West China Hospital, Sichuan University, Chengdu, Sichuan Province 610041, PR China. Electronic address:

Secretory carcinoma (SC) and acinic cell carcinoma (AciCC) are two rare tumors originating in the salivary gland of the head and neck. Before the World Health Organization (WHO) classified SC as a new entity in 2017, the majority of SC cases were incorrectly diagnosed as AciCC. Indeed, they are similar in biological behaviors, clinical manifestations and histomorphological features. Read More

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Searching appropriate system boundary for accounting India's emission inventory for the responsibility to reduce carbon emissions.

J Environ Manage 2021 Jun 19;295:112907. Epub 2021 Jun 19.

Department of Economics, COMSATS University Islamabad, Pakistan. Electronic address:

This paper explores the features of accounting for the national carbon emission inventory under four different system boundaries, including the presently operational territorial production-based accounting (PBA) practised by the UNFCCC. Using a recently published input-output table with the base year for 2013-2014, the study calculates India's 'Nationally Determined Contribution (NDC)' to the mitigation of carbon emissions using production-based, consumption-based, sharing-based and equity-based accounting. The study finds India as a net importer of carbon emissions, especially for its high emission-intensive capital and energy goods import such that the country is bearing the minimum burden of emission reduction responsibility. Read More

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Non-Epileptic Paroxysmal Events: Clinical features and diagnostic differences with epileptic seizures. A Single Tertiary Centre Study.

Clin Neurol Neurosurg 2021 Jun 8;207:106739. Epub 2021 Jun 8.

Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy. Electronic address:

Background: Non-Epileptic Paroxysmal Events (NEPE) are common clinical manifestations in pediatric age presenting with dysfunction of motor and behavioral activity mimicking features of epileptic seizures.

Objective: To present and analyze number and clinical characteristic of a group of children/adolescents presenting with various types of NEPE; to compare clinical data of this group of NEPE affected children/adolescents with a group of children/adolescents affected by Epileptic Seizures (ES).

Methods: The retrospective study was conducted at the Pediatric Clinic of University of Catania, Catania, Italy, in a period ranging from January 2005 and January 2018. Read More

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50-gene risk profiles in peripheral blood predict COVID-19 outcomes: A retrospective, multicenter cohort study.

EBioMedicine 2021 Jun 19;69:103439. Epub 2021 Jun 19.

Divison of Pulmonary, Critical Care & Sleep Medicine. University of South Florida, Morsani College of Medicine, Tampa, FL 33602, USA. Electronic address:

Background: COVID-19 has been associated with Interstitial Lung Disease features. The immune transcriptomic overlap between Idiopathic Pulmonary Fibrosis (IPF) and COVID-19 has not been investigated.

Methods: we analyzed blood transcript levels of 50 genes known to predict IPF mortality in three COVID-19 and two IPF cohorts. Read More

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Current knowledge on the immune microenvironment and emerging immunotherapies in diffuse midline glioma.

EBioMedicine 2021 Jun 19;69:103453. Epub 2021 Jun 19.

Department of Neurosurgery, Icahn School of Medicine at Mount Sinai,10 Union Square East, 5th Floor, Suite 5E, New York, NY 10003, USA; Department of Oncological Sciences, The Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

Diffuse midline glioma (DMG) is an incurable malignancy with the highest mortality rate among pediatric brain tumors. While radiotherapy and chemotherapy are the most common treatments, these modalities have limited promise. Due to their diffuse nature in critical areas of the brain, the prognosis of DMG remains dismal. Read More

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Whole slide imaging is a high-throughput method to assess Candida biofilm formation.

Microbiol Res 2021 Jun 10;250:126806. Epub 2021 Jun 10.

Laboratory of Cellular Biology, Department of Biology, ICB, Federal University of Juiz de Fora, UFJF, Juiz de Fora, MG, Brazil. Electronic address:

New strategies that enable fast and accurate visualization of Candida biofilms are necessary to better study their structure and response to antifungals agents. Here, we applied whole slide imaging (WSI) to study biofilm formation of Candida species. Three relevant biofilm-forming Candida species (C. Read More

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Multilevel systems biology analysis of lung transcriptomics data identifies key miRNAs and potential miRNA target genes for SARS-CoV-2 infection.

Comput Biol Med 2021 Jun 12;135:104570. Epub 2021 Jun 12.

Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Saudi Arabia; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia. Electronic address:

Background: The spread of a novel severe acute respiratory syndrome corona virus 2 (SARS-CoV-2) has affected both the public health and the global economy. The current study was aimed at analysing the genetic sequence of this highly contagious corona virus from an evolutionary perspective, comparing the genetic variation features of different geographic strains, and identifying the key miRNAs as well as their gene targets from the transcriptome data of infected lung tissues.

Methods: A multilevel robust computational analysis was undertaken for viral genetic sequence alignment, phylogram construction, genome-wide transcriptome data interpretation of virus-infected lung tissues, miRNA mapping, and functional biology networking. Read More

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Redescription of Paradiplozoon opsariichthydis (Jiang, Wu et Wang 1984) Jiang, Wu et Wang, 1989 (Monogenea, Diplozoidae).

Parasitol Int 2021 Jun 19:102409. Epub 2021 Jun 19.

Department of Botany and Zoology, Faculty of Science, Masaryk University, Kotlářská 2, 611 37 Brno, Czech Republic.

Paradiplozoon opsariichthydis (Jiang, Wu et Wang, 1984) Jiang, Wu et Wang, 1989 (Platyhelminthes, Monogenea, Diplozoidae) is blood-feeding parasite from the gills of Asian cyprinid fish Opsariichthys bidens Günther, 1873. In this study, we present a morphological redescription of P. opsariichthydis neotype main morphological features e. Read More

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Circulation of multidrug-resistant Shigella sonnei and Shigella flexneri among men who have sex with men in Barcelona, Spain, 2015-2019.

Int J Antimicrob Agents 2021 Jun 19:106378. Epub 2021 Jun 19.

Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain; Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Plaça Cívica, 08193 Bellaterra, Barcelona, Spain; Department of Clinical Microbiology, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address:

Background: In high-income countries shigellosis is mainly found in travellers to high-risk regions or among men who have sex with men (MSM). Here we investigated the genomic characteristics and the features of antimicrobial resistance of MSM-associated Shigella flexneri and Shigella sonnei circulating in Barcelona (Spain), elucidating their connectivity with contemporaneous Shigella from other countries.

Methods: Antimicrobial susceptibility, WGS, genomic characterization and phylogenetic analysis was performed in MSM-associated Shigella recovered from 2015 to 2019. Read More

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An epigallocatechin-3-gallate formulation developed for endodontic use: a physicochemical and biological evaluation.

J Endod 2021 Jun 19. Epub 2021 Jun 19.

Department of Pediatric Dentistry, School of Dentistry of Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil.

Introduction: Although epigallocatechin-3-gallate (EGCG) from green tea has been sucessfully used in the prevention and treatment of several infectious and immunoinflammatory diseases due to its proven anti-inflammatory, anti-oxidant, antimicrobial and anti-resorptive role, its use as an intracanal dressing has not been proposed. The aim of this study was to develop a formulation based on Epigallocatechin-3-gallate (EGCG) for endodontic use by assessing its physicochemical and biological properties.

Methods: Initially, physicochemical characterization of EGCG was performed by ultraviolet-visible (UV/Vis) and fluorescence spectroscopy to evaluate if the properties were maintained in acidic pH and time (1-6, 24 and 27 hours). Read More

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A CHALLENGING CASE OF SPORADIC MELANOCYTOMA OF THE JUGULAR FORAMEN.

Neurochirurgie 2021 Jun 19. Epub 2021 Jun 19.

Department of Neurosurgery, Manchester Centre for Clinical Neurosciences, Salford Royal Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

Background: The jugular foramen (JF) can be the site of several tumours. Paragangliomas, schwannomas and meningiomas are the most commonly reported. We describe a case of melanocytoma originating from the JF and presenting with an accessory nerve palsy. Read More

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Understanding totipotency: A role for alternative splicing.

Dev Cell 2021 Jun;56(12):1697-1699

School of Biomedical Science, Stem Cell and Regenerative Consortium, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong; Center for Translational Stem Cell Biology, Hong Kong Science and Technology Park, Hong Kong. Electronic address:

Totipotency refers to single cells' developmental capacity to form an entire organism. Understanding how totipotent stem cells form has implications for chimera generation. In a recent Cell study, Shen et al. Read More

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Human and viral membrane-associated E3 ubiquitin ligases MARCH1 and MIR2 recognize different features of CD86 to downregulate surface expression.

J Biol Chem 2021 Jun 19:100900. Epub 2021 Jun 19.

The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC 3052, Australia. Electronic address:

Immune-stimulatory ligands, such as major histocompatibility complex (MHC) molecules and the T-cell costimulatory ligand CD86 are central to productive immunity. Endogenous mammalian membrane-associated RING-CHs (MARCH) act on these and other targets to regulate antigen presentation and activation of adaptive immunity, while virus-encoded homologs target the same molecules to evade immune responses. Substrate specificity is encoded in or near the membrane-embedded domains of MARCHs and the proteins they regulate, but the exact sequences that distinguish substrates from non-substrates are poorly understood. Read More

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Describing the Structural Phenotype of the Glaucomatous Optic Nerve Head Using Artificial Intelligence.

Am J Ophthalmol 2021 Jun 19. Epub 2021 Jun 19.

Ophthalmic Engineering & Innovation Laboratory (OEIL), Singapore Eye Research Institute, Singapore National Eye Centre, Singapore; Duke-NUS Medical School, Singapore. Electronic address:

Purpose: To develop a novel deep-learning approach that can describe the structural phenotype of the glaucomatous ONH and can be used as a robust glaucoma diagnosis tool.

Design: Retrospective, deep-learning approach diagnosis study.

Method: We trained a deep learning network to segment three neural-tissue and four connective-tissue layers of the ONH. Read More

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