25,493 results match your criteria Wilson Disease


Impact of an Open Access Nationwide Treatment Model on Hepatitis C Virus Antiviral Drug Resistance.

Hepatol Commun 2020 Jun 6;4(6):904-915. Epub 2020 Apr 6.

Storr Liver Centre The Westmead Institute for Medical Research The University of Sydney and Westmead Hospital Sydney Australia.

Direct acting antivirals (DAAs) have revolutionized hepatitis C virus (HCV) treatment, but drug resistance could undermine proposed global elimination targets. Real-world studies are needed to inform the impact of widespread DAA treatment on antiviral resistance in the community. The prevalence and range of posttreatment resistance-associated substitutions (RASs) was determined in Australian patients with open access to DAAs through a wide range of prescribers. Read More

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http://dx.doi.org/10.1002/hep4.1496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7262285PMC

Policymaker and stakeholder perspectives on access to assistive technologies in Canada: challenges and proposed solutions for enhancing equitable access.

Disabil Rehabil Assist Technol 2020 Jun 3:1-13. Epub 2020 Jun 3.

McMaster Health Forum, McMaster University, Hamilton, Canada.

Unmet needs for assistive technologies (ATs) exist and the need for ATs is growing owing to demographic changes worldwide. Little comprehensive research has examined equity of access to ATs in Canada. Our study elucidates perspectives of policymakers and stakeholders on challenges and solutions for enhancing equitable access to ATs to advance policy discussions. Read More

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http://dx.doi.org/10.1080/17483107.2020.1765033DOI Listing

Molecular Patterns in Acute Pancreatitis Reflect Generalizable Endotypes of the Host Response to Systemic Injury in Humans.

Ann Surg 2020 Jun 2. Epub 2020 Jun 2.

Medical Research Council Centre for Inflammation Research, Queen's Medical Research Institute, The University of Edinburgh, Edinburgh, UK.

Objective: Acute Pancreatitis (AP) is sudden onset pancreas inflammation that causes systemic injury with a wide and markedly heterogeneous range of clinical consequences. Here, we hypothesized that this observed clinical diversity corresponds to diversity in molecular subtypes that can be identified in clinical and multiomics data.

Summary Background Data: Observational cohort study. Read More

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http://dx.doi.org/10.1097/SLA.0000000000003974DOI Listing

Changes in Pediatric Endoscopic Practice during the COVID-19 Pandemic: Results from an International Survey.

Gastroenterology 2020 May 30. Epub 2020 May 30.

Division of Gastroenterology, Hepatology and Nutrition and the Research and Learning Institutes, Hospital for Sick Children, Department of Paediatrics and the Wilson Centre, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2020.05.068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7260478PMC

Clinical manifestation of non-ketotic hyperglycemia chorea: A case report and literature review.

Medicine (Baltimore) 2020 May;99(22):e19801

Department of Neurology, Beijing Haidian Hospital, Beijing Haidian Section of Peking University Third Hospital, Beijing, P.R. China.

Introduction: Chorea is considered a special complication of diabetes mellitus. Here we report a case of chorea associated with non-ketotic hyperglycemia (NKH).

Patient Concerns: The patient was a 79-year-old Asian woman. Read More

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http://dx.doi.org/10.1097/MD.0000000000019801DOI Listing

Management of primary skin cancer during a pandemic: Multidisciplinary recommendations.

Cancer 2020 Jun 1. Epub 2020 Jun 1.

Division of Dermatologic Surgery, Department of Dermatology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

During the coronavirus disease 2019 (COVID-19) pandemic, providers and patients must engage in shared decision making regarding the pros and cons of early versus delayed interventions for localized skin cancer. Patients at highest risk of COVID-19 complications are older; are immunosuppressed; and have diabetes, cancer, or cardiopulmonary disease, with multiple comorbidities associated with worse outcomes. Physicians must weigh the patient's risk of COVID-19 complications in the event of exposure against the risk of worse oncologic outcomes from delaying cancer therapy. Read More

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http://dx.doi.org/10.1002/cncr.32969DOI Listing

The Role of Virtual Reality in Improving Health Outcomes for Community-Dwelling Older Adults: Systematic Review.

J Med Internet Res 2020 Jun 1;22(6):e17331. Epub 2020 Jun 1.

School of Nursing and Midwifery, Edith Cowan University, Joondalup, Australia.

Background: Virtual reality (VR) delivered through immersive headsets creates an opportunity to deliver interventions to improve physical, mental, and psychosocial health outcomes. VR app studies with older adults have primarily focused on rehabilitation and physical function including gait, balance, fall prevention, pain management, and cognition. Several systematic reviews have previously been conducted, but much of the extant literature is focused on rehabilitation or other institutional settings, and little is known about the effectiveness of VR apps using immersive headsets to target health outcomes among community-dwelling older adults. Read More

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http://dx.doi.org/10.2196/17331DOI Listing

African Swine Fever Virus: An Emerging DNA Arbovirus.

Front Vet Sci 2020 13;7:215. Epub 2020 May 13.

Department of Diagnostic Medicine/Pathobiology, College of Veterinary Medicine, Kansas State University, Manhattan, KS, United States.

African swine fever virus (ASFV) is the sole member of the family , and the only known DNA arbovirus. Since its identification in Kenya in 1921, ASFV has remained endemic in Africa, maintained in a sylvatic cycle between soft ticks and warthogs () which do not develop clinical disease with ASFV infection. However, ASFV causes a devastating and economically significant disease of domestic ( and feral () swine. Read More

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http://dx.doi.org/10.3389/fvets.2020.00215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7237725PMC

Admission Levels of Total Tau and β-Amyloid Isoforms 1-40 and 1-42 in Predicting the Outcome of Mild Traumatic Brain Injury.

Front Neurol 2020 13;11:325. Epub 2020 May 13.

Division of Clinical Neurosciences, Department of Neurosurgery, Turku University Hospital, Turku, Finland.

The purpose of this study was to investigate if admission levels of total tau (T-tau) and β-amyloid isoforms 1-40 (Aβ40) and 1-42 (Aβ42) could predict clinical outcome in patients with mild traumatic brain injury (mTBI). A total of 105 patients with mTBI [Glasgow Coma Scale (GCS) ≥ 13] recruited in Turku University Hospital, Turku, Finland were included in this study. Blood samples were drawn within 24 h of admission for analysis of plasma T-tau, Aβ40, and Aβ42. Read More

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http://dx.doi.org/10.3389/fneur.2020.00325DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7237639PMC

Latent class trajectory modelling of 2-components-DAS28 identifies multiple rheumatoid arthritis phenotypes of response to biologic disease modifying anti-rheumatic drugs.

Arthritis Rheumatol 2020 May 31. Epub 2020 May 31.

Versus Arthritis Centre for Genetics and Genomics, The University of Manchester, Manchester, UK.

Objectives: To determine whether using a re-weighted disease activity score that better reflects joint synovitis, the 2-component DAS28 (2C-DAS28), based on 28-swollen joint count and C-reactive protein, produces more clinically relevant treatment outcome trajectories compared with the standard 4 component DAS28 (4C-DAS28).

Methods: Latent class mixed modelling (LCMM) of response to biologic treatment was applied to 2,991 patients with RA about to commence bDMARD treatment from the Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate (BRAGGSS) cohort using both 4C-DAS28 and 2C-DAS28 as outcomes. Identified patient groups with similar trajectories were compared in terms of pre-treatment baseline characteristics - including disability, comorbidities - and follow-up characteristics - including anti-drug antibody (ADAb) events, adherence to treatments and blood drug levels, We compared the trajectories obtained using the 4C and 2C scores to determine which characteristics were better captured by the 2CDAS28 compared with the 4C-DAS28 trajectories. Read More

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http://dx.doi.org/10.1002/art.41379DOI Listing

Historical database cohort study addressing the clinical patterns prior to idiopathic pulmonary fibrosis (IPF) diagnosis in UK primary care.

BMJ Open 2020 May 30;10(5):e034428. Epub 2020 May 30.

Observational and Pragmatic Research Institute Pte Ltd, Singapore

Objective: To explore the clinical pathways, including signs and symptoms, and symptom progression patterns preceding idiopathic pulmonary fibrosis (IPF) diagnosis.

Design And Setting: A historical cohort study was conducted using primary care patient records from the Optimum Patient Care Research Database.

Participants: Patients included were at least 30 years, had IPF diagnosis, identified via clinical-coding and free-text records and had a consultation with a chest specialist prior to IPF diagnosis. Read More

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http://dx.doi.org/10.1136/bmjopen-2019-034428DOI Listing

Neurotherapeutic applications of nanomedicine for treating Alzheimer's disease.

J Control Release 2020 May 27. Epub 2020 May 27.

Department of Pharmacology, College of Pharmaceutical Sciences, Dayananda Sagar University, Kumaraswamy Layout, Bangalore, Karnataka 560078, India.

Alzheimer's disease (AD) is a progressive, irreversible, fatal brain disease which disturbs cognitive functions. It affects 35 million people worldwide and the number of people suffering may increase to 100 million by 2050 if no effective treatments are available. The present treatment improves cognitive functions and provide temporary symptomatic relief, but do not stop or delay the disease progression. Read More

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http://dx.doi.org/10.1016/j.jconrel.2020.05.044DOI Listing

Artificial Intelligence in Intracoronary Imaging.

Curr Cardiol Rep 2020 May 29;22(7):46. Epub 2020 May 29.

Department of Biomedical Engineering, Cleveland Clinic, Cleveland, OH, 44195, USA.

Purpose Of Review: This paper investigates present uses and future potential of artificial intelligence (AI) applied to intracoronary imaging technologies.

Recent Findings: Advances in data analytics and digitized medical imaging have enabled clinical application of AI to improve patient outcomes and reduce costs through better diagnosis and enhanced workflow. Applications of AI to IVUS and IVOCT have produced improvements in image segmentation, plaque analysis, and stent evaluation. Read More

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http://dx.doi.org/10.1007/s11886-020-01299-wDOI Listing

Submucosal Supernumerary Smooth Muscle Coat: A Common Histologic Finding in Mowat-Wilson Syndrome With or Without Hirschsprung Disease.

Pediatr Dev Pathol 2020 May 29:1093526620925960. Epub 2020 May 29.

Department of Pathology, Seattle Children's Hospital and University of Washington, Seattle, Washington.

Background: Mowat-Wilson syndrome (MWS) is a multiorgan system disorder caused by (zinc finger E-box-binding homeobox 2) mutations or deletions. One common manifestation is constipation, and approximately half of the patients have Hirschsprung disease (HSCR). In addition to classic histologic features of HSCR, an unusual supernumerary intestinal muscle coat was recently reported in a patient of MWS with HSCR. Read More

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http://dx.doi.org/10.1177/1093526620925960DOI Listing

BOLD signal within and around white matter lesions distinguishes multiple sclerosis and non-specific white matter disease: a three-dimensional approach.

J Neurol 2020 May 28. Epub 2020 May 28.

Neuroinnovation Program, Multiple Sclerosis & Neuroimmunology Imaging Program, Department of Neurology & Neurotherapeutics, UT Southwestern Medical Center, Dallas, TX, USA.

Multiple sclerosis (MS) diagnostic criteria are based upon clinical presentation and presence of white matter hyperintensities on two-dimensional magnetic resonance imaging (MRI) views. Such criteria, however, are prone to false-positive interpretations due to the presence of similar MRI findings in non-specific white matter disease (NSWMD) states such as migraine and microvascular disease. The coexistence of age-related changes has also been recognized in MS patients, and this comorbidity further poses a diagnostic challenge. Read More

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http://dx.doi.org/10.1007/s00415-020-09923-zDOI Listing

Impact of community-based chronic obstructive pulmonary disease service, a multidisciplinary intervention in an area of high deprivation: a longitudinal matched controlled study.

BMJ Open 2020 May 27;10(5):e032931. Epub 2020 May 27.

Public Health and Policy, University of Liverpool, Liverpool, UK.

Objective: To examine the effects of a consultant-led, community-based chronic obstructive pulmonary disease (COPD) service, based in a highly deprived area on emergency hospital admissions.

Design: A longitudinal matched controlled study using difference-in-differences analysis to compare the change in outcomes in the intervention population to a matched comparison population, 5 years before and after implementation.

Setting: A deprived district in the North West of England between 2005 and 2016. Read More

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http://dx.doi.org/10.1136/bmjopen-2019-032931DOI Listing

Development of an UPSA Short Form for Use in Longitudinal Studies in the Early Alzheimer's Disease Spectrum.

J Prev Alzheimers Dis 2020 ;7(3):179-183

Dr. Jesus J. Gomar, Litwin-Zucker Alzheimer's Disease Center, Feinstein Institute, Manhassett, NY, USA, Email: Telephone: 516-562-0420, Fax: 516-562-0401.

Background: In individuals with only mild or very mild cognitive attenuations (i.e., so-called pre-clinical AD), performance-based measures of function may be superior to informant-based measures because of increased sensitivity, greater reliability, and fewer ceiling effects. Read More

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http://dx.doi.org/10.14283/jpad.2019.51DOI Listing
January 2020

The effect of LRRK2 loss-of-function variants in humans.

Nat Med 2020 May 27. Epub 2020 May 27.

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be valuable indicators of gene function and the potential toxicity of therapeutic inhibitors targeting these genes. Gain-of-kinase-function variants in LRRK2 are known to significantly increase the risk of Parkinson's disease, suggesting that inhibition of LRRK2 kinase activity is a promising therapeutic strategy. While preclinical studies in model organisms have raised some on-target toxicity concerns, the biological consequences of LRRK2 inhibition have not been well characterized in humans. Read More

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http://dx.doi.org/10.1038/s41591-020-0893-5DOI Listing

Transcript expression-aware annotation improves rare variant interpretation.

Nature 2020 May 27;581(7809):452-458. Epub 2020 May 27.

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

The acceleration of DNA sequencing in samples from patients and population studies has resulted in extensive catalogues of human genetic variation, but the interpretation of rare genetic variants remains problematic. A notable example of this challenge is the existence of disruptive variants in dosage-sensitive disease genes, even in apparently healthy individuals. Here, by manual curation of putative loss-of-function (pLoF) variants in haploinsufficient disease genes in the Genome Aggregation Database (gnomAD), we show that one explanation for this paradox involves alternative splicing of mRNA, which allows exons of a gene to be expressed at varying levels across different cell types. Read More

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http://dx.doi.org/10.1038/s41586-020-2329-2DOI Listing

A structural variation reference for medical and population genetics.

Nature 2020 May 27;581(7809):444-451. Epub 2020 May 27.

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Structural variants (SVs) rearrange large segments of DNA and can have profound consequences in evolution and human disease. As national biobanks, disease-association studies, and clinical genetic testing have grown increasingly reliant on genome sequencing, population references such as the Genome Aggregation Database (gnomAD) have become integral in the interpretation of single-nucleotide variants (SNVs). However, there are no reference maps of SVs from high-coverage genome sequencing comparable to those for SNVs. Read More

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http://dx.doi.org/10.1038/s41586-020-2287-8DOI Listing

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.

Nat Commun 2020 May 27;11(1):2523. Epub 2020 May 27.

National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, Du Cane Road, London, W12 0NN, UK.

Upstream open reading frames (uORFs) are tissue-specific cis-regulators of protein translation. Isolated reports have shown that variants that create or disrupt uORFs can cause disease. Here, in a systematic genome-wide study using 15,708 whole genome sequences, we show that variants that create new upstream start codons, and variants disrupting stop sites of existing uORFs, are under strong negative selection. Read More

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http://dx.doi.org/10.1038/s41467-019-10717-9DOI Listing
May 2020
10.742 Impact Factor

A multicentre, randomised controlled trial to compare the clinical and cost-effectiveness of Lee Silverman Voice Treatment versus standard NHS Speech and Language Therapy versus control in Parkinson's disease: a study protocol for a randomised controlled trial.

Trials 2020 May 27;21(1):436. Epub 2020 May 27.

Institute for Applied Health Research, University of Birmingham, Birmingham, B15 2TT, UK.

Background: Parkinson's disease (PD) affects approximately 145,519 people in the UK. Speech impairments are common with a reported prevalence of 68%, which increase physical and mental demands during conversation, reliance on family and/or carers, and the likelihood of social withdrawal reducing quality of life. In the UK, two approaches to Speech and Language Therapy (SLT) intervention are commonly available: National Health Service (NHS) SLT or Lee Silverman Voice Treatment (LSVT LOUD®). Read More

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http://dx.doi.org/10.1186/s13063-020-04354-7DOI Listing

Mapping and characterization of structural variation in 17,795 human genomes.

Nature 2020 May 27. Epub 2020 May 27.

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.

A key goal of whole-genome sequencing (WGS) for human genetics studies is to interrogate all forms of variation, including single nucleotide variants (SNV), small insertion/deletion (indel) variants and structural variants (SV). However, tools and resources for the study of SV have lagged behind those for smaller variants. Here, we used a scalable pipeline to map and characterize SV in 17,795 deeply sequenced human genomes. Read More

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http://dx.doi.org/10.1038/s41586-020-2371-0DOI Listing

A Structured Approach for Safely Reintroducing Bariatric Surgery in a COVID-19 Environment.

Obes Surg 2020 May 26. Epub 2020 May 26.

Bariatric and Metabolic Institute, Department of General Surgery, Cleveland Clinic, 9500 Euclid Avenue, Desk M61, Cleveland, OH, 44195, USA.

Due to the profound effect of novel coronavirus disease 2019 (COVID-19) on healthcare systems, surgical programs across the country have paused surgical operations and have been utilizing virtual visits to help maintain public safety. For those who treat obesity, the importance of bariatric surgery has never been more clear. Emerging studies continue to identify obesity and several other obesity-related comorbid conditions as major risk factors for a more severe COVID-19 disease course. Read More

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http://dx.doi.org/10.1007/s11695-020-04733-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250538PMC

Haemoglobin Oxygen Affinity in Patients with Severe COVID-19 Infection.

Br J Haematol 2020 May 26. Epub 2020 May 26.

School of Cardiovascular Medicine and Sciences, King's College London, UK.

During critical care, at least until the late stage of the disease, severely ill COVID-19 patients may have relatively well preserved lung compliance but remain severely hypoxaemic. A recent theoretical study suggested a direct interaction between COVID-19 viral proteins and haemoglobin (Hb) that could lead to a loss of oxygen carrying capacity. As national guidelines strongly support a restrictive transfusion strategy in the critically ill, any right-shift in the Hb O affinity curve could contribute to the hypoxaemia and be potentially harmful. Read More

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http://dx.doi.org/10.1111/bjh.16888DOI Listing

10-Valent pneumococcal non-typeable protein D conjugate vaccine (PHiD-CV10) versus 13-valent pneumococcal conjugate vaccine (PCV13) as a booster dose to broaden and strengthen protection from otitis media (PREVIX_BOOST) in Australian Aboriginal children: study protocol for a randomised controlled trial.

BMJ Open 2020 May 24;10(5):e033511. Epub 2020 May 24.

Child Health Division, Menzies School of Health Research and Charles Darwin University, Darwin, Northern Territory, Australia

Introduction: and non-typeable (NTHi) are major otitis media pathogens that densely co-colonise the nasopharynx and infect the middle ear of Australian Aboriginal infants from very early in life. Our co-primary hypotheses are that at 18 months of age infants receiving 10-valent pneumococcal protein D conjugate vaccine (PHiD-CV10) compared with those receiving 13-valent pneumococcal conjugate vaccine (PCV13) as a booster at 12 months of age will have higher antibody levels to protein D and that infants receiving PCV13 will have higher antibody levels to PCV13-only serotypes 3, 6A and 19A.

Methods And Analyses: Our randomised controlled trial will enrol 270 Aboriginal children at 12 months of age to a booster dose of either PHiD-CV10 or PCV13. Read More

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http://dx.doi.org/10.1136/bmjopen-2019-033511DOI Listing

Activation of HIF-1 signaling ameliorates liver steatosis in zebrafish atp7b deficiency (Wilson's disease) models.

Biochim Biophys Acta Mol Basis Dis 2020 May 21;1866(10):165842. Epub 2020 May 21.

Institute of Translational Medicine, The Affiliated Hospital of Hangzhou Normal University, Hangzhou, Zhejiang, China; Department of Infectious Disease, The Affiliated Hospital of Hangzhou Normal University, Hangzhou, Zhejiang, China. Electronic address:

Wilson's disease is an autosomal recessive disease characterized by excess copper accumulated in the liver and brain. It is caused by mutations in the copper transporter gene ATP7B. However, based on the poor understanding of the transcriptional program involved in the pathogenesis of Wilson's disease and the lack of more safe and efficient therapies, the identification of novel pathways and the establishment of complementary model systems of Wilson's disease are urgently needed. Read More

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http://dx.doi.org/10.1016/j.bbadis.2020.165842DOI Listing

Constructing the social world: Impaired capacity for social simulation in dementia.

Cognition 2020 May 8;202:104321. Epub 2020 May 8.

The University of Sydney, Brain and Mind Centre, Sydney, Australia; The University of Sydney, School of Psychology, Sydney, Australia; Australian Research Council Centre of Excellence in Cognition and its Disorders, Sydney, Australia. Electronic address:

Scene construction refers to the capacity to imagine richly detailed scenes in one's mind's eye and has been demonstrated to be compromised across a range of clinical disorders in which episodic memory processes are also affected. It remains unclear however, how task demands modulate the content of the to-be-simulated scenes. Here, we sought to investigate the capacity for social forms of scene construction in the behavioural-variant of frontotemporal dementia (bvFTD), a progressive neurodegenerative disorder characterised by pronounced social cognitive and executive dysfunction, alongside episodic memory impairments. Read More

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http://dx.doi.org/10.1016/j.cognition.2020.104321DOI Listing

Outcomes after Complicated and Uncomplicated Mild Traumatic Brain Injury at Three-and Six-Months Post-Injury: Results from the CENTER-TBI Study.

J Clin Med 2020 May 18;9(5). Epub 2020 May 18.

Institute of Medical Psychology and Medical Sociology, University Medical Center Göttingen, 37073 Göttingen, Germany.

The objective of this study was to provide a comprehensive examination of the relation of complicated and uncomplicated mild traumatic brain injury (mTBI) with multidimensional outcomes at three- and six-months after TBI. We analyzed data from the Collaborative European NeuroTrauma Effectiveness Research (CENTER-TBI) research project. Patients after mTBI (Glasgow Coma scale (GCS) score of 13-15) enrolled in the study were differentiated into two groups based on computed tomography (CT) findings: complicated mTBI (presence of any traumatic intracranial injury on first CT) and uncomplicated mTBI (absence of any traumatic intracranial injury on first CT). Read More

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http://dx.doi.org/10.3390/jcm9051525DOI Listing

Experimental PCEP-Adjuvanted Swine Influenza H1N1 Vaccine Induced Strong Immune Responses but Did Not Protect Piglets against Heterologous H3N2 Virus Challenge.

Vaccines (Basel) 2020 May 18;8(2). Epub 2020 May 18.

Vaccinology & Immunotherapeutic Program, School of Public Health, University of Saskatchewan, Saskatoon, SK S7N 2Z4, Canada.

Vaccination is the most efficient method of protection against influenza infections. However, the rapidly mutating viruses and development of new strains make it necessary to develop new influenza vaccines annually. Hence, vaccines that stimulate cross-protection against multiple influenza subtypes are highly sought. Read More

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http://dx.doi.org/10.3390/vaccines8020235DOI Listing

Thiopurine Monotherapy in Paediatric Inflammatory Bowel Disease: 20 Years After Markowitz.

J Pediatr Gastroenterol Nutr 2020 Jun;70(6):758-759

Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1097/MPG.0000000000002697DOI Listing

Pediatric Endoscopy in the Era of Coronavirus Disease 2019: A North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Position Paper.

J Pediatr Gastroenterol Nutr 2020 06;70(6):741-750

Department of Pediatrics, Section of Gastroenterology, Hepatology, and Nutrition, Medical College of Wisconsin, Milwaukee, WI.

The delivery of endoscopic care is changing rapidly in the era of Coronavirus Disease 2019 (COVID-19). The North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) Endoscopy and Procedures Committee has formulated this statement to offer practical guidance to help standardize endoscopy services for pediatric patients with the aim of minimizing COVID-19 transmission to staff, patients, and caregivers and to conserve personal protective equipment (PPE) during this critical time. Appropriate use of PPE is essential to minimize transmission and preserve supply. Read More

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http://dx.doi.org/10.1097/MPG.0000000000002750DOI Listing

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.

Hum Mutat 2020 May 22. Epub 2020 May 22.

Discipline of Child & Adolescent Health, Sydney Medical School, Sydney, Australia.

LARS2 variants are associated with Perrault syndrome, characterised by premature ovarian failure and hearing loss, and with an infantile lethal multi-system disorder: hydrops, lactic acidosis, sideroblastic anemia (HLASA) in one individual. Recently we reported LARS2 deafness with (ovario) leukodystrophy. Here we describe five patients with a range of phenotypes, in whom we identified biallelic LARS2 variants: three patients with a HLASA-like phenotype, an individual with Perrault syndrome whose affected siblings also had leukodystrophy, and an individual with a reversible mitochondrial myopathy, lactic acidosis and developmental delay. Read More

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http://dx.doi.org/10.1002/humu.24050DOI Listing

Optic Neuropathy in Charcot-Marie-Tooth Disease.

J Neuroophthalmol 2020 Apr 16. Epub 2020 Apr 16.

Department of Neurology (AGH, JAW, RAA, SSS), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Translational Center of Excellence for Neuroepidemiology and Neurology Outcomes Research (AGH), University of Pennsylvania, Philadelphia, Pennsylvania; Center for Clinical Epidemiology and Biostatistics (AGH), University of Pennsylvania, Philadelphia, Pennsylvania; Department of Ophthalmology (RAA), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; and Division of Ophthalmology (RAA), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Background: Charcot-Marie-Tooth disease Type 2A (CMT2A) presents with optic atrophy in a subset of patients, but the prevalence and severity of optic nerve involvement in relation to other CMT subtypes has not been explored.

Methods: Patients with genetically confirmed CMT2A (n = 5), CMT1A (n = 9) and CMTX1 (n = 10) underwent high- and low-contrast acuity testing using Sloan letter charts, and circumpapillary retinal nerve fiber layer (RNFL) and macular total retinal, RNFL, and ganglion cell layer/inner plexiform layer thickness was measured using spectral domain optical coherence tomography (OCT). We used age- and gender-adjusted linear regression to compare contrast acuity and retinal thickness between CMT groups. Read More

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http://dx.doi.org/10.1097/WNO.0000000000000965DOI Listing

COVID-SAFER: Deprescribing Guidance for Hydroxychloroquine Drug Interactions in Older Adults.

J Am Geriatr Soc 2020 May 22. Epub 2020 May 22.

Division of Experimental Medicine, Faculty of Medicine, McGill University, Montréal, QC, Canada.

Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection causes high morbidity and mortality in older adults with chronic illnesses. Several trials are currently underway evaluating the antimalarial drug hydroxychloroquine as a potential treatment for acute infection. However, polypharmacy predisposes patients to increased risk of drug-drug interactions with hydroxychloroquine and may render many in this population ineligible to participate in trials. Read More

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http://dx.doi.org/10.1111/jgs.16623DOI Listing

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.

Authors:
Ioanna Ntalla Lu-Chen Weng James H Cartwright Amelia Weber Hall Gardar Sveinbjornsson Nathan R Tucker Seung Hoan Choi Mark D Chaffin Carolina Roselli Michael R Barnes Borbala Mifsud Helen R Warren Caroline Hayward Jonathan Marten James J Cranley Maria Pina Concas Paolo Gasparini Thibaud Boutin Ivana Kolcic Ozren Polasek Igor Rudan Nathalia M Araujo Maria Fernanda Lima-Costa Antonio Luiz P Ribeiro Renan P Souza Eduardo Tarazona-Santos Vilmantas Giedraitis Erik Ingelsson Anubha Mahajan Andrew P Morris Fabiola Del Greco M Luisa Foco Martin Gögele Andrew A Hicks James P Cook Lars Lind Cecilia M Lindgren Johan Sundström Christopher P Nelson Muhammad B Riaz Nilesh J Samani Gianfranco Sinagra Sheila Ulivi Mika Kähönen Pashupati P Mishra Nina Mononen Kjell Nikus Mark J Caulfield Anna Dominiczak Sandosh Padmanabhan May E Montasser Jeff R O'Connell Kathleen Ryan Alan R Shuldiner Stefanie Aeschbacher David Conen Lorenz Risch Sébastien Thériault Nina Hutri-Kähönen Terho Lehtimäki Leo-Pekka Lyytikäinen Olli T Raitakari Catriona L K Barnes Harry Campbell Peter K Joshi James F Wilson Aaron Isaacs Jan A Kors Cornelia M van Duijn Paul L Huang Vilmundur Gudnason Tamara B Harris Lenore J Launer Albert V Smith Erwin P Bottinger Ruth J F Loos Girish N Nadkarni Michael H Preuss Adolfo Correa Hao Mei James Wilson Thomas Meitinger Martina Müller-Nurasyid Annette Peters Melanie Waldenberger Massimo Mangino Timothy D Spector Michiel Rienstra Yordi J van de Vegte Pim van der Harst Niek Verweij Stefan Kääb Katharina Schramm Moritz F Sinner Konstantin Strauch Michael J Cutler Diane Fatkin Barry London Morten Olesen Dan M Roden M Benjamin Shoemaker J Gustav Smith Mary L Biggs Joshua C Bis Jennifer A Brody Bruce M Psaty Kenneth Rice Nona Sotoodehnia Alessandro De Grandi Christian Fuchsberger Cristian Pattaro Peter P Pramstaller Ian Ford J Wouter Jukema Peter W Macfarlane Stella Trompet Marcus Dörr Stephan B Felix Uwe Völker Stefan Weiss Aki S Havulinna Antti Jula Katri Sääksjärvi Veikko Salomaa Xiuqing Guo Susan R Heckbert Henry J Lin Jerome I Rotter Kent D Taylor Jie Yao Renée de Mutsert Arie C Maan Dennis O Mook-Kanamori Raymond Noordam Francesco Cucca Jun Ding Edward G Lakatta Yong Qian Kirill V Tarasov Daniel Levy Honghuang Lin Christopher H Newton-Cheh Kathryn L Lunetta Alison D Murray David J Porteous Blair H Smith Bruno H Stricker André Uitterlinden Marten E van den Berg Jeffrey Haessler Rebecca D Jackson Charles Kooperberg Ulrike Peters Alexander P Reiner Eric A Whitsel Alvaro Alonso Dan E Arking Eric Boerwinkle Georg B Ehret Elsayed Z Soliman Christy L Avery Stephanie M Gogarten Kathleen F Kerr Cathy C Laurie Amanda A Seyerle Adrienne Stilp Solmaz Assa M Abdullah Said M Yldau van der Ende Pier D Lambiase Michele Orini Julia Ramirez Stefan Van Duijvenboden David O Arnar Daniel F Gudbjartsson Hilma Holm Patrick Sulem Gudmar Thorleifsson Rosa B Thorolfsdottir Unnur Thorsteinsdottir Emelia J Benjamin Andrew Tinker Kari Stefansson Patrick T Ellinor Yalda Jamshidi Steven A Lubitz Patricia B Munroe

Nat Commun 2020 May 21;11(1):2542. Epub 2020 May 21.

William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

The electrocardiographic PR interval reflects atrioventricular conduction, and is associated with conduction abnormalities, pacemaker implantation, atrial fibrillation (AF), and cardiovascular mortality. Here we report a multi-ancestry (N = 293,051) genome-wide association meta-analysis for the PR interval, discovering 202 loci of which 141 have not previously been reported. Variants at identified loci increase the percentage of heritability explained, from 33. Read More

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http://dx.doi.org/10.1038/s41467-020-15706-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7242331PMC

Delayed Primary and Specialty Care: The Coronavirus Disease-2019 Pandemic Second Wave.

Disaster Med Public Health Prep 2020 May 7:1-3. Epub 2020 May 7.

Research Center in Emergency and Disaster Medicine (CRIMEDIM), Università degli Studi del Piemonte Orientale, NovaraItaly.

Time is of the essence to continue the pandemic disaster cycle with a comprehensive post-COVID-19 health care delivery system RECOVERY analysis, plan and operation at the local, regional and state level.The second wave of COVID-19 pandemic response are not the ripples of acute COVID-19 patient clusters that will persist until a vaccine strategy is designed and implemented to effect herd immunity. The COVID-19 second wave are the patients that have had their primary and specialty care delayed. Read More

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http://dx.doi.org/10.1017/dmp.2020.148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7248587PMC

50 States or 50 Countries: What Did We Miss and What Do We Do Now?

Prehosp Disaster Med 2020 May 22:1-5. Epub 2020 May 22.

Pulmonary and Critical Care Medicine, Coronado, CaliforniaUSA.

There have been multiple inconsistencies in the manner the COVID-19 pandemic has been investigated and managed by countries. Population-based management (PBM) has been inconsistent, yet serves as a necessary first step in managing public health crises. Unfortunately, these have dominated the landscape within the United States and continue as of this writing. Read More

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http://dx.doi.org/10.1017/S1049023X20000746DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261962PMC

Multi-spectral oscillatory dynamics serving directed and divided attention.

Neuroimage 2020 May 11;217:116927. Epub 2020 May 11.

Center for Magnetoencephalography, University of Nebraska Medical Center, Omaha, NE, USA; Cognitive Neuroscience of Development & Aging (CoNDA) Center, University of Nebraska Medical Center, Omaha, NE, USA; Department of Neurological Sciences, University of Nebraska Medical Center, Omaha, NE, USA. Electronic address:

Attention-related amplification of neural representations of external stimuli has been well documented in the visual domain, however, research concerning the oscillatory dynamics of such directed attention is relatively sparse in humans. Specifically, it is unknown which spectrally-specific neural responses are mainly impacted by the direction and division of attention, as well as whether the effects of attention on these oscillations are spatially disparate. In this study, we use magnetoencephalography and a visual-somatosensory oddball task to investigate the whole-brain oscillatory dynamics of directed (Experiment 1; N ​= ​26) and divided (Experiment 2; N ​= ​34) visual attention. Read More

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http://dx.doi.org/10.1016/j.neuroimage.2020.116927DOI Listing

An Eclectic Cast of Cellular Actors Orchestrates Innate Immune Responses in the Mechanisms Driving Obesity and Metabolic Perturbation.

Circ Res 2020 May 21;126(11):1565-1589. Epub 2020 May 21.

From the Diabetes Research Program, Division of Endocrinology, Diabetes and Metabolism, Department of Medicine (L.A., H.H.R., R.A.W., M.B.M., P.F.G., R.R., A.M.S.), NYU Grossman School of Medicine, New York.

The escalating problem of obesity and its multiple metabolic and cardiovascular complications threatens the health and longevity of humans throughout the world. The cause of obesity and one of its chief complications, insulin resistance, involves the participation of multiple distinct organs and cell types. From the brain to the periphery, cell-intrinsic and intercellular networks converge to stimulate and propagate increases in body mass and adiposity, as well as disturbances of insulin sensitivity. Read More

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http://dx.doi.org/10.1161/CIRCRESAHA.120.315900DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250004PMC

The Association of ARMC5 with the Renin-Angiotensin-Aldosterone System, Blood Pressure and Glycemia in African Americans.

J Clin Endocrinol Metab 2020 May 21. Epub 2020 May 21.

The Ohio State University, Columbus, Ohio, USA.

Context: Armadillo repeat containing 5 (ARMC5) on Chromosome 16 is an adrenal gland tumor suppressor gene associated with primary aldosteronism, especially among African Americans (AAs). We examined the association of ARMC5 variants with aldosterone, plasma renin activity (renin), blood pressure, glucose and hemoglobin A1c (A1c) in community-dwelling AAs.

Methods: The Jackson Heart Study is a prospective cardiovascular cohort study in AAs with baseline data collection between 2000-2004. Read More

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http://dx.doi.org/10.1210/clinem/dgaa290DOI Listing

A rare case of Wilson disease associated with intracerebral hemorrhage.

Korean J Anesthesiol 2020 May 20. Epub 2020 May 20.

Department of Respiratory medicine, Military Hospital (CTC), Pune, India.

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http://dx.doi.org/10.4097/kja.20212DOI Listing

Preparation of cyclohexene isotopologues and stereoisotopomers from benzene.

Nature 2020 05 20;581(7808):288-293. Epub 2020 May 20.

University of Virginia Department of Chemistry, Charlottesville, VA, USA.

The hydrogen isotopes deuterium (D) and tritium (T) have become essential tools in chemistry, biology and medicine. Beyond their widespread use in spectroscopy, mass spectrometry and mechanistic and pharmacokinetic studies, there has been considerable interest in incorporating deuterium into drug molecules. Deutetrabenazine, a deuterated drug that is promising for the treatment of Huntington's disease, was recently approved by the United States' Food and Drug Administration. Read More

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http://dx.doi.org/10.1038/s41586-020-2268-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250047PMC

Cross-reactive Antibody Response between SARS-CoV-2 and SARS-CoV Infections.

Cell Rep 2020 Jun 18;31(9):107725. Epub 2020 May 18.

HKU-Pasteur Research Pole, School of Public Health, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China. Electronic address:

The World Health Organization has declared the ongoing outbreak of COVID-19, which is caused by a novel coronavirus SARS-CoV-2, a pandemic. There is currently a lack of knowledge about the antibody response elicited from SARS-CoV-2 infection. One major immunological question concerns antigenic differences between SARS-CoV-2 and SARS-CoV. Read More

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http://dx.doi.org/10.1016/j.celrep.2020.107725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231734PMC
June 2020
7.207 Impact Factor

Comparative Microbiological and Whole-Genome Analysis of Populations in the Oro-Nasal Cavities, Skin and Diabetic Foot Ulcers of Patients With Type 2 Diabetes Reveals a Possible Oro-Nasal Reservoir for Ulcer Infection.

Front Microbiol 2020 30;11:748. Epub 2020 Apr 30.

Microbiology Research Unit, Division of Oral Biosciences, Dublin Dental University Hospital, Trinity College Dublin, The University of Dublin, Dublin, Ireland.

Patients with type 2 diabetes are at higher risk for periodontal disease and diabetic foot ulcer infections (DFUIs), the latter of which are predominantly caused by staphylococcal bacteria. Staphylococci have also been detected in the mouth, nose and gums (the oro-nasal cavity) of patients with periodontal disease and can move between the mouth and nose. The present study investigated if the oro-nasal cavity and/or periodontal pockets (PPs) in diseased gum tissue can provide a microbial reservoir for DFUIs. Read More

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http://dx.doi.org/10.3389/fmicb.2020.00748DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212350PMC

Predicting conversion to wet age-related macular degeneration using deep learning.

Nat Med 2020 May 18. Epub 2020 May 18.

DeepMind, London, UK.

Progression to exudative 'wet' age-related macular degeneration (exAMD) is a major cause of visual deterioration. In patients diagnosed with exAMD in one eye, we introduce an artificial intelligence (AI) system to predict progression to exAMD in the second eye. By combining models based on three-dimensional (3D) optical coherence tomography images and corresponding automatic tissue maps, our system predicts conversion to exAMD within a clinically actionable 6-month time window, achieving a per-volumetric-scan sensitivity of 80% at 55% specificity, and 34% sensitivity at 90% specificity. Read More

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http://dx.doi.org/10.1038/s41591-020-0867-7DOI Listing

Copper - a novel stimulator of autophagy.

Cell Stress 2020 Apr 24;4(5):92-94. Epub 2020 Apr 24.

Centre de Recherche des Cordeliers, Equipe labellisée par la Ligue contre le cancer, Université de Paris, Sorbonne Université, Inserm U1138, Institut Universitaire de France, Paris, France.

Toxic copper accumulation causes Wilson disease, but trace amounts of copper are required for cellular and organismal survival. In a recent paper Tsang (Nat Cell Biol, doi: 10.1038/s41556-020-0481-4) demonstrate that copper binds with high affinity to a designated interaction site in the pro-autophagic kinases ULK1 and ULK2. Read More

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http://dx.doi.org/10.15698/cst2020.05.218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212532PMC