300 results match your criteria dysfunction pre-symptomatic

Early left ventricular systolic dysfunction in asymptomatic patients with type 1 diabetes: a single-center, pilot study.

J Diabetes Complications 2021 Jun 20;35(6):107913. Epub 2021 Mar 20.

First Department of Propaedeutic Medicine, Laiko General Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Aims: Prevalence and risk factors of pre-symptomatic left ventricular systolic dysfunction (LVSD) in individuals with type 1 diabetes (T1D) have not been adequately studied. The present cross-sectional study assessed the prevalence of early LVSD in asymptomatic patients with type 1 diabetes and investigated potential risk factors.

Methods: Consecutive patients with T1D, free of cardiovascular disease and significant evident microvascular complications were examined. Read More

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Pre-Clinical Neuroprotective Evidences and Plausible Mechanisms of Sulforaphane in Alzheimer's Disease.

Jiyoung Kim

Int J Mol Sci 2021 Mar 13;22(6). Epub 2021 Mar 13.

Center for Food and Bioconvergence, College of Agriculture and Life Sciences, Seoul National University, Seoul 08826, Korea.

Sulforaphane, a potent dietary bioactive agent obtainable from cruciferous vegetables, has been extensively studied for its effects in disease prevention and therapy. Sulforaphane potently induces transcription factor nuclear factor erythroid 2-related factor 2 (Nrf2)-mediated expression of detoxification, anti-oxidation, and immune system-modulating enzymes, and possibly acts as an anti-carcinogenic agent. Several clinical trials are in progress to study the effect of diverse types of cruciferous vegetables and sulforaphane on prostate cancer, breast cancer, lung cancer, atopic asthmatics, skin aging, dermatitis, obesity, etc. Read More

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The Sigma-1 Receptor Mediates Pridopidine Rescue of Mitochondrial Function in Huntington Disease Models.

Neurotherapeutics 2021 Apr 1. Epub 2021 Apr 1.

CNC-Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.

Pridopidine is a selective Sigma-1 receptor (S1R) agonist in clinical development for Huntington disease (HD) and amyotrophic lateral sclerosis. S1R is a chaperone protein localized in mitochondria-associated endoplasmic reticulum (ER) membranes, a signaling platform that regulates Ca signaling, reactive oxygen species (ROS) and mitochondrial fission. Here, we investigate the protective effects of pridopidine on various mitochondrial functions in human and mouse HD models. Read More

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Epidemiology, clinical spectrum, viral kinetics and impact of COVID-19 in the Asia-Pacific region.

Respirology 2021 04 9;26(4):322-333. Epub 2021 Mar 9.

Stanley Ho Centre for Emerging Infectious Diseases, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China.

COVID-19 has hit the world by surprise, causing substantial mortality and morbidity since 2020. This narrative review aims to provide an overview of the epidemiology, induced impact, viral kinetics and clinical spectrum of COVID-19 in the Asia-Pacific Region, focusing on regions previously exposed to outbreaks of coronavirus. COVID-19 progressed differently by regions, with some (such as China and Taiwan) featured by one to two epidemic waves and some (such as Hong Kong and South Korea) featured by multiple waves. Read More

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Mitochondrial Dysfunction in Huntington's disease: Pathogenesis and Therapeutic Opportunities.

Curr Drug Targets 2021 Feb 23. Epub 2021 Feb 23.

Department of Pharmacy, Faculty of Pharmacy, University of Oradea. Romania.

Huntington's disease (HD) is prototypical neurodegenerative disease, preferentially disrupts the neurons of striatum and cor-tex. Progressive motor dysfunctions, psychiatric disturbances, behavioural impairments and cognitive decline are the clinical symptoms of HD progression. The disease occurs due to, expanded CAG repeats in exon 1 of huntingtin protein (mHtt) causing its aggregation. Read More

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February 2021

Effects of Wight Extract on Locomotive Syndrome: A Placebo-Controlled, Randomized, Double-Blind Study.

Nutrients 2021 Jan 18;13(1). Epub 2021 Jan 18.

Section of Neuromedical Science, Institute of Natural Medicine, University of Toyama, Toyama 930-0194, Japan.

In an aging society, preventing dysfunction and restoring function of the locomotive organs are necessary for long-term quality of life. Few interventional studies have investigated supplementation for locomotive syndrome. Additionally, very few interventional clinical studies on locomotive syndrome have been performed as placebo-controlled, randomized, double-blind studies. Read More

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January 2021

Spirometry during the SARS-CoV-2 pandemic. Guidelines and practical advice from the expert panel of Respiratory Physiopathology Assembly of Polish Respiratory Society.

Adv Respir Med 2020 ;88(6):640-650

2nd Department of Respiratory Medicine, Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.

At the end of 2019, in Wuhan, the Hubei Province's capital city in China, the first cases of COVID-19 disease caused by the novel coronavirus, SARS-CoV-2, were described. The rapid spread of the infection through the world resulted in the World Health Organization announcing the COVID-19 a global pandemic in March 2020. The main routes of transmission of the novel coronavirus SARS-CoV-2, according to current evidence, are via droplets inhalation, direct contact with contaminated surfaces, and transmission via the mucous membranes of the mouth, nose, and eyes, and probably through airborne particles from the respiratory tract, generated during coughing and sneezing of infected individuals. Read More

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January 2021

Analyzing changes in respiratory rate to predict the risk of COVID-19 infection.

PLoS One 2020 10;15(12):e0243693. Epub 2020 Dec 10.

Whoop Inc., Data Science & Research, Boston, Massachusetts, United States of America.

COVID-19, the disease caused by the SARS-CoV-2 virus, can cause shortness of breath, lung damage, and impaired respiratory function. Containing the virus has proven difficult, in large part due to its high transmissibility during the pre-symptomatic incubation. The study's aim was to determine if changes in respiratory rate could serve as a leading indicator of SARS-CoV-2 infections. Read More

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January 2021

Coronavirus Disease 2019 (COVID-19): The Singapore Experience. A Review of the First Eight Months.

Ann Acad Med Singap 2020 Oct;49(10):764-778

Department of Medicine, National University Hospital.

As of 27 October 2020, there have been 57,980 confirmed cases of COVID-19 in Singapore, with 28 fatalities. To summarise the Singapore experience in managing and containing COVID-19 based on available published data and from relevant sources, a review of literature using research databases such as PubMed and OVID Medline, along with non-peer-reviewed articles and other sources, was conducted with the search terms 'COVID-19' and 'Singapore'. Research conducted in Singapore has provided insight into the clinical manifestations and period of infectivity of COVID-19, demonstrated evidence of pre-symptomatic transmission, linked infection clusters using serological tools, and highlighted aspects of hospital-based environmental contamination. Read More

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October 2020

Cerebellar and cortical TLR4 activation and behavioral impairments in Wernicke-Korsakoff Syndrome: Pharmacological effects of oleoylethanolamide.

Prog Neuropsychopharmacol Biol Psychiatry 2021 Jun 1;108:110190. Epub 2020 Dec 1.

Department of Psychobiology and Behavioral Sciences Methods, Faculty of Psychology, Universidad Complutense de Madrid (UCM), Madrid, Spain; Red de Trastornos Adictivos (RTA) del Instituto de Salud Carlos III (ISCIII), Spain. Electronic address:

Wernicke-Korsakoff Syndrome (WKS) is a neuropsychiatric disorder whose etiology is a thiamine deficiency (TD), with alcoholism being the main underlying cause. Previous evidence suggests the presence of initial neuroinflammation and oxidative/nitrosative stress in the physiopathology, although the specific molecular mechanisms underlying TD-induced brain damage and behavioral disabilities are unknown. We explored the specific role of the innate immune receptor TLR4 in three murine models of WKS, based on the combination of a thiamine-deficient diet and pyrithiamine injections (0. Read More

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Plasma N-terminal tau fragment levels predict future cognitive decline and neurodegeneration in healthy elderly individuals.

Nat Commun 2020 11 27;11(1):6024. Epub 2020 Nov 27.

Brigham and Women's Hospital, Boston, MA, USA.

The availability of blood-based assays detecting Alzheimer's disease (AD) pathology should greatly accelerate AD therapeutic development and improve clinical care. This is especially true for markers that capture the risk of decline in pre-symptomatic stages of AD, as this would allow one to focus interventions on participants maximally at risk and at a stage prior to widespread synapse loss and neurodegeneration. Here we quantify plasma concentrations of an N-terminal fragment of tau (NT1) in a large, well-characterized cohort of clinically normal elderly who were followed longitudinally. Read More

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November 2020

Loss of Olfactory Function-Early Indicator for Covid-19, Other Viral Infections and Neurodegenerative Disorders.

Front Neurol 2020 26;11:569333. Epub 2020 Oct 26.

Institute of Chemical Technology of Inorganic Materials, Johannes Kepler University Linz, Linz, Austria.

The loss of the senses of smell (anosmia) and taste (ageusia) are rather common disorders, affecting up to 20% of the adult population. Yet, this condition has not received the attention it deserves, most probably because per se such a disorder is not life threatening. However, loss of olfactory function significantly reduces the quality of life of the affected patients, leading to dislike in food and insufficient, exaggerated or unbalanced food intake, unintentional exposure to toxins such as household gas, social isolation, depression, and an overall insecurity. Read More

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October 2020

Endovascular Treatment of Symptomatic Intracranial Vertebrobasilar Stenosis: A 10-Year Single Centre Experience Using Balloon-Expandable Coronary Artery Stents.

J Stroke Cerebrovasc Dis 2021 Jan 6;30(1):105431. Epub 2020 Nov 6.

Neuroradiology, San Gerardo Hospital, Monza, Italy.

Background: Symptomatic intracranial vertebro-basilar stenoses (SIVBS) are associated with high risk of recurrent ischemic stroke, even in patients receiving the best medical treatment. Although medical treatment is still the standard of care, non-responding patients may require endovascular treatment; balloon-mounted coronary stents (BMCS) could be successfully employed. This study aims to retrospectively analyze our high volume Interventional Neurovascular center ten-year experience in the off-label use of BMCS for the treatment of SIVBS, in order to assess its feasibility and safety. Read More

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January 2021

Identification of Patterns of Cognitive Impairment for Early Detection of Dementia.

Annu Int Conf IEEE Eng Med Biol Soc 2020 07;2020:5498-5501

Early detection of dementia is crucial to devise effective interventions. Comprehensive cognitive tests, while being the most accurate means of diagnosis, are long and tedious, thus limiting their applicability to a large population, especially when periodic assessments are needed. The problem is compounded by the fact that people have differing patterns of cognitive impairment as they progress to different forms of dementia. Read More

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Pre-symptomatic Caspase-1 inhibitor delays cognitive decline in a mouse model of Alzheimer disease and aging.

Nat Commun 2020 09 11;11(1):4571. Epub 2020 Sep 11.

Bloomfield Center for Research in Aging, Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada.

Early therapeutic interventions are essential to prevent Alzheimer Disease (AD). The association of several inflammation-related genetic markers with AD and the early activation of pro-inflammatory pathways in AD suggest inflammation as a plausible therapeutic target. Inflammatory Caspase-1 has a significant impact on AD-like pathophysiology and Caspase-1 inhibitor, VX-765, reverses cognitive deficits in AD mouse models. Read More

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September 2020

Genetic Study of Hereditary Angioedema Type I and Type II (First Report from Iranian Patients: Describing Three New Mutations).

Immunol Invest 2020 Sep 8:1-12. Epub 2020 Sep 8.

Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.

Background: Hereditary Angioedema (HAE) is a rare autosomal dominant immunodeficiency disease with mutation in C1 inhibitor gene () which deficient and dysfunction of C1-INH protein result in HAE type I or type II, respectively. The present study aimed to define the genetic spectrum of HAE type I and type II among Iranian patients.

Methods: Thirty-four patients with clinical phenotype of recurrent edematous attacks in face, upper and lower limbs, hands, and upper airway entered the study. Read More

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September 2020

Shedding of SARS-CoV-2 in feces and urine and its potential role in person-to-person transmission and the environment-based spread of COVID-19.

Sci Total Environ 2020 Dec 31;749:141364. Epub 2020 Jul 31.

Centre for Environmental Biotechnology, School of Natural Sciences, Bangor University, Bangor, Gwynedd LL57 2UW, UK; School of Ocean Sciences, Bangor University, Menai Bridge, Anglesey LL59 5AB, UK.

The recent detection of SARS-CoV-2 RNA in feces has led to speculation that it can be transmitted via the fecal-oral/ocular route. This review aims to critically evaluate the incidence of gastrointestinal (GI) symptoms, the quantity and infectivity of SARS-CoV-2 in feces and urine, and whether these pose an infection risk in sanitary settings, sewage networks, wastewater treatment plants, and the wider environment (e.g. Read More

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December 2020

The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening.

Int J Neonatal Screen 2020 Jun 16;6(2). Epub 2020 May 16.

Department of Pediatrics, Division of Human Genetics, Section of Biochemical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Tyrosinemia type 1 (TT1) is an inborn error of tyrosine metabolism with features including liver dysfunction, cirrhosis, and hepatocellular carcinoma; renal dysfunction that may lead to failure to thrive and bone disease; and porphyric crises. Once fatal in most infantile-onset cases, pre-symptomatic diagnosis through newborn screening (NBS) protocols, dietary management, and pharmacotherapy with nitisinone have improved outcomes. Succinylacetone provides a sensitive and specific marker for the detection of TT1 but is not universally utilized in screening protocols for the disease. Read More

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An understanding of discordant SARS-CoV-2 test results: an examination of the data from a central Auckland laboratory.

N Z Med J 2020 07 31;133(1519):81-88. Epub 2020 Jul 31.

Clinical Microbiologist, Microbiology Department, LabPlus, Auckland City Hospital, Auckland; Clinical Head of Microbiology, Microbiology Department, LabPlus, Auckland City Hospital, Auckland.

Aim: The diagnostic sensitivity of the SARS-CoV-2 real time reverse transcription polymerase chain reaction (RT-PCR) test has not been determined. This has led to a degree of uncertainty in the interpretation of results, particularly in patients tested repeatedly. The aim of this study was to explore the characteristics of patients who initially tested negative, and subsequently tested positive for SARS-CoV-2. Read More

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Mitochondrial Respiration Changes in R6/2 Huntington's Disease Model Mice during Aging in a Brain Region Specific Manner.

Int J Mol Sci 2020 Jul 30;21(15). Epub 2020 Jul 30.

Huntington and Rare Diseases Unit, Fondazione IRCCS Casa Sollievo della Sofferenza Research Hospital, 71013 San Giovanni Rotondo, Italy.

Mitochondrial dysfunction is crucially involved in aging and neurodegenerative diseases, such as Huntington's Disease (HD). How mitochondria become compromised in HD is poorly understood but instrumental for the development of treatments to prevent or reverse resulting deficits. In this paper, we investigate whether oxidative phosphorylation (OXPHOS) differs across brain regions in juvenile as compared to adult mice and whether such developmental changes might be compromised in the R6/2 mouse model of HD. Read More

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Endosomal Acid-Base Homeostasis in Neurodegenerative Diseases.

Rev Physiol Biochem Pharmacol 2020 Aug 1. Epub 2020 Aug 1.

Department of Physiology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Neurodegenerative disorders are debilitating and largely untreatable conditions that pose a significant burden to affected individuals and caregivers. Overwhelming evidence supports a crucial preclinical role for endosomal dysfunction as an upstream pathogenic hub and driver in Alzheimer's disease (AD) and related neurodegenerative disorders. We present recent advances on the role of endosomal acid-base homeostasis in neurodegeneration and discuss evidence for converging mechanisms. Read More

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The contribution of glial cells to Huntington's disease pathogenesis.

Neurobiol Dis 2020 09 25;143:104963. Epub 2020 Jun 25.

Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Stanley Center, Broad Institute, Cambridge, MA 02142, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

Glial cells play critical roles in the normal development and function of neural circuits, but in many neurodegenerative diseases, they become dysregulated and may contribute to the development of brain pathology. In Huntington's disease (HD), glial cells both lose normal functions and gain neuropathic phenotypes. In addition, cell-autonomous dysfunction elicited by mutant huntingtin (mHTT) expression in specific glial cell types is sufficient to induce both pathology and Huntington's disease-related impairments in motor and cognitive performance, suggesting that these cells may drive the development of certain aspects of Huntington's disease pathogenesis. Read More

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September 2020

Standardized Testing Demonstrates Altered Odor Detection Sensitivity and Hedonics in Asymptomatic College Students as SARS-CoV-2 Emerged Locally.

medRxiv 2020 Jun 19. Epub 2020 Jun 19.

Background Anosmia is a recognized symptom of COVID-19, but the relationship of SARS-CoV-2 exposure with olfactory dysfunction remains enigmatic. This report adds unique data from healthy students tested as the virus emerged locally. Methods Psychometrically validated measures assessed odor detection, identification and hedonics in healthy university students. Read More

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Multiple Roles of Transforming Growth Factor Beta in Amyotrophic Lateral Sclerosis.

Int J Mol Sci 2020 Jun 16;21(12). Epub 2020 Jun 16.

Dipartimento di Scienze Farmacologiche e Biomolecolari, Centro di Eccellenza sulle Malattie Neurodegenerative, Università degli Studi di Milano, 20133 Milano, Italy.

Transforming growth factor beta (TGFB) is a pleiotropic cytokine known to be dysregulated in many neurodegenerative disorders and particularly in amyotrophic lateral sclerosis (ALS). This motor neuronal disease is non-cell autonomous, as it affects not only motor neurons but also the surrounding glial cells, and the target skeletal muscle fibers. Here, we analyze the multiple roles of TGFB in these cell types, and how TGFB signaling is altered in ALS tissues. Read More

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Molecular Regulation in Dopaminergic Neuron Development. Cues to Unveil Molecular Pathogenesis and Pharmacological Targets of Neurodegeneration.

Int J Mol Sci 2020 Jun 3;21(11). Epub 2020 Jun 3.

Institute of Genetics and Biophysics "Adriano Buzzati Traverso", CNR, 80131 Rome, Italy.

The relatively few dopaminergic neurons in the mammalian brain are mostly located in the midbrain and regulate many important neural functions, including motor integration, cognition, emotive behaviors and reward. Therefore, alteration of their function or degeneration leads to severe neurological and neuropsychiatric diseases. Unraveling the mechanisms of midbrain dopaminergic (mDA) phenotype induction and maturation and elucidating the role of the gene network involved in the development and maintenance of these neurons is of pivotal importance to rescue or substitute these cells in order to restore dopaminergic functions. Read More

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Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature.

J Neurol 2020 Jun 4. Epub 2020 Jun 4.

Department of Neurology, Charité University Medicine, Berlin, Germany.

Hereditary transthyretin amyloidosis is caused by pathogenic variants (ATTR) in the TTR gene. Alongside cardiac dysfunction, the disease typically manifests with a severely progressive sensorimotor and autonomic polyneuropathy. Three different drugs, tafamidis, patisiran, and inotersen, are approved in several countries, including the European Union and the United States of America. Read More

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Digital Biomarkers Based Individualized Prognosis for People at Risk of Dementia: the AltoidaML Multi-site External Validation Study.

Adv Exp Med Biol 2020 ;1194:157-171

Trinity College Institute of Neuroscience, Trinity College Dublin, Dublin, Ireland.

Research investigating treatments and interventions for cognitive decline and Alzheimer's disease (AD) suffer due to difficulties in accurately identifying individuals at risk of AD in the pre-symptomatic stages of the disease. There is an urgent need for better identification of such individuals in order to enable earlier treatment and to properly stage and stratify participants for clinical trials and intervention studies. Although some biological measures (biomarkers) can identify Alzheimer's-related changes before significant changes in cognitive function occur, such biomarkers are not ideal as they are only able to place individuals in rudimentary stages of the disease/cognitive decline (Tarnanas et al. Read More

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September 2020

Clinical and Imaging Markers of Prodromal Parkinson's Disease.

Front Neurol 2020 8;11:395. Epub 2020 May 8.

Department of Neurology, St. Olavs Hospital, Trondheim, Norway.

The diagnosis of Parkinson's disease (PD) relies on the clinical effects of dopamine deficiency, including bradykinesia, rigidity and tremor, usually manifesting asymmetrically. Misdiagnosis is common, due to overlap of symptoms with other neurodegenerative disorders such as multiple system atrophy and progressive supranuclear palsy, and only autopsy can definitively confirm the disease. Motor deficits generally appear when 50-60% of dopaminergic neurons in the substantia nigra are already lost, limiting the effectiveness of potential neuroprotective therapies. Read More

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Adrenoleukodystrophy in the Differential Diagnosis of Boys Presenting with Primary Adrenal Insufficiency without Adrenal Antibodies.

J Clin Res Pediatr Endocrinol 2020 May 12. Epub 2020 May 12.

Metabolic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London UK.

Background: Adrenoleukodystrophy (ALD) is an X-linked, metabolic disorder caused by deficiency of peroxisomal ALD protein resulting in accumulation of very-long chain fatty acids (VLCFA) primarily in the adrenal cortex and central nervous system. Approximately 35-40% of boys with ALD develop cerebral ALD (CALD), which causes rapidly progressive cerebral demyelination, loss of neurologic function, and death. Approximately 70-80% of boys with ALD have impaired adrenal function prior to the onset of neurologic symptoms. Read More

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Feeding and Swallowing Problems in Infants with Spinal Muscular Atrophy Type 1: an Observational Study.

J Neuromuscul Dis 2020 ;7(3):323-330

Department of Rehabilitation, Radboud University Medical Center, Donders Center for Neuroscience, Nijmegen, the Netherlands.

Background: Infantile hereditary proximal spinal muscular atrophy (SMA) type 1 is characterized by onset in the first 6 months of life and severe and progressive muscle weakness. Dysphagia is a common complication but has not been studied in detail.

Objective: To study feeding and swallowing problems in infants with SMA type 1, and to explore the relation between these problems and functional motor scores. Read More

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