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Carnitine Palmitoyltransferase-II Deficiency: Case Presentation and Review of the Literature.

Rom J Intern Med 2021 Jun 12. Epub 2021 Jun 12.

Department of Internal Medicine, Mayo Clinic, 4500 San Pablo Rd S, Jacksonville, FL 32224.

Carnitine palmitoyltransferase-II deficiency, an autosomal recessive disorder, is the most common cause of recurrent rhabdomyolysis in adults. Recognition and avoidance of triggers, such as heavy exercise and stress, is key in prevention of further episodes; however, even with preventative measures, many patients will continue to experience periodic symptoms, including rhabdomyolysis. Avoidance of renal failure, correction of electrolyte disturbances and halting further muscle breakdown are the goals of treatment. Read More

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Fetal double outlet right ventricle without heterotaxy syndrome: diagnostic spectrum, associated extracardiac pathology and clinical outcomes.

Prenat Diagn 2021 Jun 12. Epub 2021 Jun 12.

Fetal & Neonatal Cardiology Program, Division of Pediatric Cardiology, Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.

Objectives: To document the clinical spectrum and outcomes of fetal DORV without heterotaxy in a recent diagnostic era.

Methods: Prenatal cases of DORV consecutively diagnosed from 2007-2018 were retrospectively identified. Clinical records, including details regarding genetic testing and pre and postnatal imaging were reviewed. Read More

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Characteristics and outcomes of cancer patients with covid-19 at a safety-net hospital.

Cancer Treat Res Commun 2021 Jun 9;28:100418. Epub 2021 Jun 9.

Department of Hematology and Oncology, Capital Health Regional Medical Center, Trenton, NJ, United States.

Patients with cancer are a vulnerable population during the COVID-19 pandemic due to underlying immunosuppression, pre-existing comorbidities, and poor nutrition. There is a lack of data describing the disease course of cancer patients with COVID-19 disease. Therefore, we analyzed data from cancer patients with COVID-19 who were admitted to our hospital. Read More

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A Phase II study of nab-Paclitaxel (nab-P) in patients with advanced non-small cell lung cancer with EGFR mutations after frontline tyrosine kinase inhibitor therapy.

Cancer Treat Res Commun 2021 Jun 9;28:100416. Epub 2021 Jun 9.

University of Washington, Department of Medicine, Division of Medical Oncology United States.

Background: Patients with metastatic non-small cell lung cancer (NSCLC) harboring a sensitizing EGFR mutation have effective targeted therapy options initially but most patients eventually progress and receive cytotoxic chemotherapy. In this single-institution phase II study, we evaluated the role of nab-paclitaxel monotherapy in this patient population.

Patients And Methods: Patients with metastatic NSCLC with an activating EGFR mutation whose disease progressed after frontline tyrosine kinase inhibitor therapy and who were chemotherapy naïve received nab-paclitaxel 125 mg/m2 on days 1, 8 and 15 in a 28-day cycle. Read More

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Polymyxin B accelerates the α-synuclein aggregation.

Biophys Chem 2021 Jun 3;277:106628. Epub 2021 Jun 3.

Department of Biosciences and Bioengineering, Indian Institute of Technology Guwahati, Guwahati 781 039, India. Electronic address:

Parkinson's disease (PD) is a progressive neurodegenerative disorder caused by the loss of dopaminergic neurons. It is characterised by the deposition of insoluble α-synuclein aggregates in the brain. Constipation is a common PD-associated condition, and the treatment of constipation with certain antibiotics seem to improve the PD symptoms. Read More

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Prognostic value of tumor mutational burden in patients with oral cavity squamous cell carcinoma treated with upfront surgery.

ESMO Open 2021 Jun 9;6(4):100178. Epub 2021 Jun 9.

Department of Drug Development and Innovation (D3i), Institut Curie, Paris and Saint-Cloud, France. Electronic address:

Background: Oral cavity is the most prevalent site of head and neck squamous cell carcinomas (HNSCCs). Most often diagnosed at a locally advanced stage, treatment is multimodal with surgery as the cornerstone. The aim of this study was to explore the molecular landscape of a homogenous cohort of oral cavity squamous cell carcinomas (OCSCCs), and to assess the prognostic value of tumor mutational burden (TMB), along with classical molecular and clinical parameters. Read More

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Deep sequence modelling for Alzheimer's disease detection using MRI.

Comput Biol Med 2021 Jun 1;134:104537. Epub 2021 Jun 1.

School of Electrical Engineering and Computing, The University of Newcastle, NSW 2308, Australia.

Background: Alzheimer's disease (AD) is one of the deadliest diseases in developed countries. Treatments following early AD detection can significantly delay institutionalisation and extend patients' independence. There has been a growing focus on early AD detection using artificial intelligence. Read More

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A computational pipeline for data augmentation towards the improvement of disease classification and risk stratification models: A case study in two clinical domains.

Comput Biol Med 2021 Jun 6;134:104520. Epub 2021 Jun 6.

Unit of Medical Technology and Intelligent Information Systems, Department of Materials Science and Engineering, University of Ioannina, Ioannina, GR45110, Greece; Department of Biomedical Research, FORTH-IMBB, Ioannina, GR45110, Greece. Electronic address:

Virtual population generation is an emerging field in data science with numerous applications in healthcare towards the augmentation of clinical research databases with significant lack of population size. However, the impact of data augmentation on the development of AI (artificial intelligence) models to address clinical unmet needs has not yet been investigated. In this work, we assess whether the aggregation of real with virtual patient data can improve the performance of the existing risk stratification and disease classification models in two rare clinical domains, namely the primary Sjögren's Syndrome (pSS) and the hypertrophic cardiomyopathy (HCM), for the first time in the literature. Read More

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Large variations in disease severity, death and ICU admission of 2993 patients infected with SARS-CoV-2: The potential impact of genetic vulnerability.

J Infect Public Health 2021 Apr 22;14(7):886-891. Epub 2021 Apr 22.

Health Informatics and Smart Health Department, Health Regulation Sector, Dubai Health Authority, Dubai, United Arab Emirates. Electronic address:

Background: The COVID-19 pandemic has had an immeasurable impact, affecting healthcare systems, the global economy, and society. Exploration of trends within the existing COVID-19 data may guide directions for further study and novel treatment development. As the world faces COVID-19 disease, it is essential to study its epidemiological and clinical characteristics further to better understand and aid in its detection and containment. Read More

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How lockdown measures, during COVID-19 pandemic, matter on psoriatic patient's perception: Study on 600 patients on biologic therapy.

J Infect Public Health 2021 Apr 1;14(7):878-882. Epub 2021 Apr 1.

Dermatology Unit "D. Innocenzi", Polo Pontino, Sapienza University of Rome, Rome, Italy.

Background: The outbreak of coronavirus disease-2019 (COVID-19) is a public health crisis of global proportion. In psoriatic patients treated with biologic agents, evidence is not yet available on susceptibility to infection with the novel SARS-CoV-2 coronavirus, and data about the perception of COVID-19 and its impact on these patients are lacking.

Aims: The aim of this observational, spontaneous study was the evaluation of the impact of anti COVID-19 measures in "fragile population" such as patients with a chronic inflammatory disease. Read More

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SARS-CoV-2 infection during pregnancy and pregnancy-related conditions: Concerns, challenges, management and mitigation strategies-a narrative review.

J Infect Public Health 2021 Apr 23;14(7):863-875. Epub 2021 Apr 23.

Division of Pathology, ICAR-Indian Veterinary Research Institute, Izatnagar, Bareilly, 243122, Uttar Pradesh, India. Electronic address:

The ongoing coronavirus disease 2019 (COVID-19) pandemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), is a global public health problem. The SARS-CoV-2 triggers hyper-activation of inflammatory and immune responses resulting in cytokine storm and increased inflammatory responses on several organs like lungs, kidneys, intestine, and placenta. Although SARS-CoV-2 affects individuals of all age groups and physiological statuses, immune-compromised individuals such as pregnant women are considered as a highly vulnerable group. Read More

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New perspective towards therapeutic regimen against SARS-CoV-2 infection.

J Infect Public Health 2021 May 26;14(7):852-862. Epub 2021 May 26.

Clinical Microbiology and Infectious Diseases, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, 2193, South Africa; Infection Control, Charlotte Maxeke Johannesburg Academic Hospital, National Health Laboratory Service, Johannesburg, 2193, South Africa. Electronic address:

The ongoing enormous loss of human life owing to Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2), has led to a global crisis ranging from the collapse of health - care systems to socio-economic instability. As SARS-CoV-2 is a novel virus, very little information is available from researchers and therefore, a rigorous effort is required to decode its pathogenicity. There are no licenced treatment options available for treating SARS-CoV-2 infections and the development of a new antiviral drug targeting coronavirus cannot happen soon. Read More

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Epidemiological feature, viral shedding, and antibody seroconversion among asymptomatic SARS-CoV-2 carriers and symptomatic/presymptomatic COVID-19 patients.

J Infect Public Health 2021 May 27;14(7):845-851. Epub 2021 May 27.

Department of Epidemiology, Second Military Medical University, Shanghai 200433, China. Electronic address:

Background: Novel coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is pandemic. However, data concerning the epidemiological features, viral shedding, and antibody dynamics between asymptomatic SARS-CoV-2 carriers and COVID-19 patients remain controversial.

Methods: We enrolled 193 SARS-CoV-2 infected subjects in Ningbo and Zhoushan, Zhejiang, China, from January 21 to March 6, 2020. Read More

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Nationwide Seroprevalence of SARS-CoV-2 in Saudi Arabia.

J Infect Public Health 2021 Apr 24;14(7):832-838. Epub 2021 Apr 24.

King Abdullah International Medical Research Center, Riyadh, Saudi Arabia; King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

Background: Estimated seroprevalence of Coronavirus Infectious Disease 2019 (COVID-19), caused by the Severe Acute Respiratory Syndrome-Coronavirus-2 (SARS-CoV-2) is a critical evidence for a better evaluation of the virus spread and monitoring the progress of COVID-19 pandemic in a population. In the Kingdom of Saudi Arabia (KSA), SARS-CoV-2 seroprevalence has been reported in specific regions, but an extensive nationwide study has not been reported. Here, we report a nationwide study to determine the prevalence of SARS-CoV-2 in the population of KSA during the pandemic, using serum samples from healthy blood donors, non-COVID patients and healthcare workers (HCWs) in six different regions of the kingdom, with addition samples from COVID-19 patients. Read More

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Vaccine hesitancy in migrant communities: a rapid review of latest evidence.

Curr Opin Immunol 2021 Jun 9;71:62-68. Epub 2021 Jun 9.

Cochrane South Africa, South African Medical Research Council, Cape Town, South Africa; Department of Global Health, Stellenbosch University, Cape Town, South Africa; School of Public Health and Family Medicine, University of Cape Town, Cape Town, South Africa.

By refusing or delaying vaccination, vaccine hesitant individuals and communities undermine the prevention, and ultimately, elimination of communicable diseases against which safe and effective vaccines are available. We reviewed recent evidence of vaccine hesitancy within migrant communities in the context of increased human mobility and widespread anti-immigrant sentiment and manifest xenophobia. Among many immigrant parents and families, vaccine hesitancy is largely associated with fears and misinformation about vaccine harms, limited knowledge of both preventable diseases and vaccines, distrust of host countries' health systems and their attendant intentions, language barriers, and perceived incompatibility between vaccine uptake and migrants' religion. Read More

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Just "one of so many"? The pathologist Theodor Fahr (1877-1945) and his ambivalent relationship to National Socialism.

Pathol Res Pract 2021 May 23;224:153488. Epub 2021 May 23.

Institute for History, Theory and Ethics in Medicine, Medical Faculty, RWTH Aachen University, Wendlingweg 2, Aachen, D-52074, Germany. Electronic address:

Theodor Fahr is well known as a pioneer in renal pathology and the eponym of "Fahr's disease". While his professional merits are undisputed, his relationship to National Socialism remains unclear. On the one hand, he signed the public "oath of allegiance" of German professors to Adolf Hitler, on the other hand, he appeared as a mentor to his Jewish colleague Paul Kimmelstiel. Read More

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Improved SARS-CoV-2 M inhibitors based on feline antiviral drug GC376: Structural enhancements, increased solubility, and micellar studies.

Eur J Med Chem 2021 May 30;222:113584. Epub 2021 May 30.

Department of Chemistry, University of Alberta, Edmonton AB, T6G 2G2, Canada. Electronic address:

Replication of SARS-CoV-2, the coronavirus causing COVID-19, requires a main protease (M) to cleave viral proteins. Consequently, M is a target for antiviral agents. We and others previously demonstrated that GC376, a bisulfite prodrug with efficacy as an anti-coronaviral agent in animals, is an effective inhibitor of M in SARS-CoV-2. Read More

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Benzofuranyl-2-imidazoles as imidazoline I receptor ligands for Alzheimer's disease.

Eur J Med Chem 2021 May 20;222:113540. Epub 2021 May 20.

Laboratory of Medicinal Chemistry (Associated Unit to CSIC), Department of Pharmacology, Toxicology and Medicinal Chemistry, Faculty of Pharmacy and Food Sciences, Institute of Biomedicine (IBUB), University of Barcelona, Av. Joan XXIII, 27-31, E-08028, Barcelona, Spain. Electronic address:

Recent findings unveil the pharmacological modulation of imidazoline I receptors (I-IR) as a novel strategy to face unmet medical neurodegenerative diseases. In this work, we report the chemical characterization, three-dimensional quantitative structure-activity relationship (3D-QSAR) and ADMET in silico of a family of benzofuranyl-2-imidazoles that exhibit affinity against human brain I-IR and most of them have been predicted to be brain permeable. Acute treatment in mice with 2-(2-benzofuranyl)-2-imidazole, known as LSL60101 (garsevil), showed non-warning properties in the ADMET studies and an optimal pharmacokinetic profile. Read More

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Design, synthesis, and biological evaluation of furosemide analogs as therapeutics for the proteopathy and immunopathy of Alzheimer's disease.

Eur J Med Chem 2021 Jun 2;222:113565. Epub 2021 Jun 2.

Krembil Research Institute, University Health Network, Toronto, Canada; Faculty of Pharmacy, University of Toronto, Ontario, Canada; Faculty of Medicine, University of Toronto, Ontario, Canada; Department of Chemistry, University of Toronto, Ontario, Canada. Electronic address:

β-Amyloid (Aβ) triggered proteopathic and immunopathic processes are a postulated cause of Alzheimer's disease (AD). Monomeric Aβ is derived from amyloid precursor protein, whereupon it aggregates into various assemblies, including oligomers and fibrils, which disrupt neuronal membrane integrity and induce cellular damage. Aβ is directly neurotoxic/synaptotoxic, but may also induce neuroinflammation through the concomitant activation of microglia. Read More

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Feasibility and early experience of a novel multidisciplinary alcohol-associated liver disease clinic.

J Subst Abuse Treat 2021 Apr 9;130:108396. Epub 2021 Apr 9.

Department of Internal Medicine, Michigan Medicine, Ann Arbor, MI, United States of America.

Background: Alcohol cessation improves mortality in alcohol-associated liver disease (ALD), but access to treatment is limited. To address this gap, implementation and early feasibility and outcomes of a multidisciplinary ALD clinic are described.

Methods: The clinic comprised a hepatologist, psychiatrist, psychologist, nurse, and social worker. Read More

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"A good mother": Impact of motherhood identity on women's substance use and engagement in treatment across the lifespan.

J Subst Abuse Treat 2021 May 14;130:108474. Epub 2021 May 14.

Yale School of Medicine AIDS Program, New Haven, CT, United States of America; Yale School of Public Health, Chronic Disease Epidemiology, New Haven, CT, United States of America. Electronic address:

Background: Women are underrepresented in substance use disorder (SUD) treatment. Interpersonal and structural factors affect women's access to SUD treatment, but limited research evaluates how motherhood is a potential barrier and facilitator to engagement in SUD treatment. We focus on women from young to middle adulthood, and capture women's identities as mothers, caretakers, and grandmothers, outside of pregnancy and the postpartum period. Read More

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Clinical correlates of white matter lesions in Parkinson's disease using automated multi-modal segmentation measures.

J Neurol Sci 2021 Jun 1;427:117518. Epub 2021 Jun 1.

Singapore General Hospital, Singapore; Duke-NUS Medical School, Singapore. Electronic address:

Background: Age-related white matter lesions (WML) are common, impact neuronal connectivity, and affect motor function and cognition. In addition to pathological nigrostriatal losses, WML are also common co-morbidities in Parkinson's disease (PD) that affect postural stability and gait. Automated brain volume measures are increasingly incorporated into the clinical reporting workflow to facilitate precision in medicine. Read More

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High throughput proteomic and metabolic profiling identified target correction of metabolic abnormalities as a novel therapeutic approach in head and neck paraganglioma.

Transl Oncol 2021 Jun 9;14(8):101146. Epub 2021 Jun 9.

Department of Otolaryngology Head & Neck Surgery, The Ninth People's Hospital, Shanghai Jiao Tong University, School of Medicine, No. 639, Zhi-Zao-Ju Road, Shanghai 200011, China; Ear Institute, School of Medicine, Shanghai Jiao Tong University, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, China. Electronic address:

Head and neck paragangliomas (HNPGLs) are rare neoplasms that represent difficult treatment paradigms in neurotology. Germline mutations in genes encoding succinate dehydrogenase (SDH) are the cause of nearly all familial HNPGLs. However, the molecular mechanisms underlying tumorigenesis remain unclear. Read More

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Effectiveness of behaviour change techniques used in hand hygiene interventions targeting older children - A systematic review.

Soc Sci Med 2021 May 31;281:114090. Epub 2021 May 31.

Department of Disease Control, London School of Hygiene and Tropical Medicine, Keppel St, Bloomsbury, London, WC1E 7HT, UK.

Background: Promoting good hand hygiene in older children is an important measure to reduce the burden of common diseases such as diarrhoea and acute respiratory infections. The evidence around what works to change this behaviour, however, is unclear.

Objectives: To aid future intervention design and effective use of resources, this review aims to identify the individual components used in hand hygiene interventions and assesses their contribution to intended behavioural change. Read More

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Dehydrocostus lactone inhibits BLM-induced pulmonary fibrosis and inflammation in mice via the JNK and p38 MAPK-mediated NF-κB signaling pathways.

Int Immunopharmacol 2021 Jun 9;98:107780. Epub 2021 Jun 9.

Department of Basic Medicine, Wuxi School of Medicine, Jiangnan University, Wuxi, Jiangsu 214122, PR China. Electronic address:

Idiopathic pulmonary fibrosis (IPF) is a chronic and irreversible inflammatory disease with a high mortality rate and limited therapeutic options. This study explored the potential role and mechanisms of Dehydrocostus lactone (DHL) in the inflammatory and fibrotic responses in a bleomycin (BLM) induced model. Treatment with DHL significantly reduced pathological injury and fibrosis, the secretion of BLM-induced pro-fibrotic mediators TGF-β and α-SMA, and components of the extracellular matrix (fibronectin). Read More

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Differential expression of gut miRNAs in idiopathic Parkinson's disease.

Parkinsonism Relat Disord 2021 Jun 1;88:46-50. Epub 2021 Jun 1.

Department of Translational Brain Research, German Centre for Neurodegenerative Diseases (DZNE), Munich, Germany; Department of Neurology, Ludwig Maximilian University, Munich, Germany. Electronic address:

Objective: In the present work, we aimed to investigate the expression of microRNAs (miRNAs) in routine colonic biopsies obtained from patients with idiopathic Parkinson's disease (PD) and to address their value as a diagnostic biomarker for PD and their mechanistic contribution to PD onset and progression.

Methods: Patients with PD (n = 13) and healthy controls (n = 17) were prospectively recruited to undergo routine colonic biopsies for cancer screening. Total RNA was extracted from the biopsy material and the expression of miRNAs was quantified by Illumina High-Throughput Sequencing. Read More

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Retinal thickness and microvascular pathway in Idiopathic Rapid eye movement sleep behaviour disorder and Parkinson's disease.

Parkinsonism Relat Disord 2021 Jun 6;88:40-45. Epub 2021 Jun 6.

Department of Medical, Surgical Sciences and Advanced Technologies GF Ingrassia, Section of Neurosciences, University of Catania, Catania, CT, Italy. Electronic address:

Introduction: Retinal impairment has previously been described in Parkinson's Disease (PD), also in early stage of disease. Idiopathic Rapid-eye-movement sleep Behavior Disorder (iRBD) is considered the strongest marker in the diagnosis of "Prodromal PD". Thus, we evaluated the thickness of retinal layers and the microvascular retinal pattern in a group of iRBD patients compared to PD and healthy subjects (HCs). Read More

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Apolipoprotein A-I mimetic peptide inhibits atherosclerosis by increasing tetrahydrobiopterin via regulation of GTP-cyclohydrolase 1 and reducing uncoupled endothelial nitric oxide synthase activity.

Atherosclerosis 2021 May 31;328:83-91. Epub 2021 May 31.

Division of Cardiac Surgery, Heart Center, The First Affiliated Hospital, Sun Yat-sen University, PR China; National-Guangdong Joint Engineering Laboratory for Diagnosis and Treatment of Vascular Diseases, PR China; NHC Key Laboratory of Assisted Circulation, Sun Yat-sen University, PR China; Guangdong Provincial Engineering and Technology Center for Diagnosis and Treatment of Vascular Diseases, PR China; Guangdong Provincial Key Laboratory of Brain Function and Disease,Guangzhou, 510080, PR China. Electronic address:

Background And Aims: The apolipoprotein A-I mimetic peptide D-4F, among its anti-atherosclerotic effects, improves vasodilation through mechanisms not fully elucidated yet.

Methods: Low-density lipoprotein (LDL) receptor null (LDLr) mice were fed Western diet with or without D-4F. We then measured atherosclerotic lesion formation, endothelial nitric oxide synthase (eNOS) phosphorylation and its association with heat shock protein 90 (HSP90), nitric oxide (NO) and superoxide anion (O) production, and tetrahydrobiopterin (BH4) and GTP-cyclohydrolase 1 (GCH-1) concentration in the aorta. Read More

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Cross-cohort generalizability of deep and conventional machine learning for MRI-based diagnosis and prediction of Alzheimer's disease.

Neuroimage Clin 2021 Jun 4;31:102712. Epub 2021 Jun 4.

Department of Radiology and Nuclear Medicine, Erasmus MC, Rotterdam, The Netherlands.

This work validates the generalizability of MRI-based classification of Alzheimer's disease (AD) patients and controls (CN) to an external data set and to the task of prediction of conversion to AD in individuals with mild cognitive impairment (MCI). We used a conventional support vector machine (SVM) and a deep convolutional neural network (CNN) approach based on structural MRI scans that underwent either minimal pre-processing or more extensive pre-processing into modulated gray matter (GM) maps. Classifiers were optimized and evaluated using cross-validation in the Alzheimer's Disease Neuroimaging Initiative (ADNI; 334 AD, 520 CN). Read More

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The occurrence of myelin oligodendrocyte glycoprotein antibodies in aquaporin-4-antibody seronegative Neuromyelitis Optica Spectrum Disorder: A systematic review and meta-analysis.

Mult Scler Relat Disord 2021 May 28;53:103030. Epub 2021 May 28.

China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China; Department of Neurology, Tianjin Neurological Institute, Tianjin Medical University General Hospital, Tianjin 300052, China. Electronic address:

Background: Despite inclusion in neuromyelitis optica spectrum disorders (NMOSD), myelin oligodendrocyte glycoprotein antibody (MOG-Ab)-associated diseases are increasingly recognized as an independent disease entity. In this study, we conducted a systematic review and meta-analysis to comprehensively update the rate of occurrence of MOG-Ab in Aquaporin4 (AQP4)-antibody seronegative NMOSD.

Methods: We searched PubMed, EMBASE, and Cochrane databases for studies reporting the rates of patients with MOG-Ab in NMOSD. Read More

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