Search Our Scientific Publications & Authors

Nucleic Acids Res 2020 Jun 2. Epub 2020 Jun 2.

State Key Laboratory of Molecular Biology, Shanghai Institute of Biochemistry and Cell Biology, Center for Excellence in Molecular Cell Science, Chinese Academy of Sciences, Shanghai 200031, China.

Structure and/or function of proteins are frequently affected by oxidative/nitrosative stress via posttranslational modifications. Aminoacyl-tRNA synthetases (aaRSs) constitute a class of ubiquitously expressed enzymes that control cellular protein homeostasis. Here, we found the activity of human mitochondrial (mt) threonyl-tRNA synthetase (hmtThrRS) is resistant to oxidative stress (H2O2) but profoundly sensitive to nitrosative stress (S-nitrosoglutathione, GSNO). Read More

Oral Maxillofac Surg Clin North Am 2020 May 29. Epub 2020 May 29.

Program in Global Surgery and Social Change, Department of Global Health and Social Medicine, Harvard Medical School, 641 Huntington Avenue, Boston, MA 02115, USA; Department of Plastic and Oral Surgery, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115, USA; Harvard School of Dental Medicine, 188 Longwood Ave, Boston, MA 02115 USA. Electronic address:

Global health has evolved to focus on reducing health inequity and obtaining the highest attainable standard of health for all people. To do this, a range of actors now pursue interventions and policy with an eye toward global targets that place strong emphasis on improving health systems. Within global health, global surgery has sought to delineate the burden of surgical disease and propose policy to improve access to surgery. Read More

Regen Med 2020 Jun 1. Epub 2020 Jun 1.

Department of Hematology, School of Allied Medical Sciences, Tehran University of Medical Sciences, Tehran 14177-44361, Iran.

Mesenchymal stem cells (MSCs) have provided a promising tool for cell therapy. Umbilical cord (UC) is one of the best sources of MSCs since its collection is noninvasive, and effortless, and the cells from this source are more capable and prolific. It has been proven that the differentiation, migration and protective properties of UC-MSCs are superior compared with other kinds of stem cells. Read More

J Can Chiropr Assoc 2020 Apr;64(1):65-75

Center for Movement Disorders, Toronto, Ontario, Canada.

Background: Health locus of control (LOC) represents an individual's beliefs regarding one's ability to influence health outcomes. In patients with chronic and neurodegenerative diseases, greater internal LOC has been associated with lower levels of disability.

Objective: To examine LOC in patients with Huntington disease (HD). Read More

PLoS One 2020 29;15(5):e0232785. Epub 2020 May 29.

Huntington Medical Research Institutes, Pasadena, CA, United States of America.

Background: Alzheimer's disease (AD) pathology precedes symptoms and its detection can identify at-risk individuals who may benefit from early treatment. Since the retinal nerve fiber layer (RNFL) is depleted in established AD, we tested whether its thickness can predict whether cognitively healthy (CH) individuals have a normal or pathological cerebrospinal fluid (CSF) Aß42 (A) and tau (T) ratio.

Methods: As part of an ongoing longitudinal study, we enrolled CH individuals, excluding those with cognitive impairment and significant ocular pathology. Read More

Curr Protoc Hum Genet 2020 Jun;106(1):e100

Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.

In neurodegeneration studies, researchers are faced with problems such as limited material availability and late disease manifestation. Cell models provide the opportunity to investigate molecular mechanisms of pathogenesis. Moreover, genome editing technologies enable generation of isogenic cell models of hereditary diseases. Read More

Toxicon 2020 May 26;183:44-50. Epub 2020 May 26.

Neuroscience Lab, Department of Cell Biology and Anatomical Sciences, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address:

3-nitropropionic acid (3-NP) is a mycotoxin widely used to produce a rat model of Huntington's disease. While there are numerous studies on the effect of this neurotoxin, still further investigation is required to understand the influence of this toxin on different regions of the brain. In the present study, there are two groups of rats of which one is treated with 3-NP. Read More

Elife 2020 May 28;9. Epub 2020 May 28.

Department of Biological Sciences, Program in Neuroscience, University of the Sciences, Philadelphia, United States.

Emerging evidence supports the hypothesis that pathogenic protein aggregates associated with neurodegenerative diseases spread from cell to cell through the brain in a manner akin to infectious prions. Here, we show that mutant huntingtin (mHtt) aggregates associated with Huntington disease transfer anterogradely from presynaptic to postsynaptic neurons in the adult olfactory system. Trans-synaptic transmission of mHtt aggregates is inversely correlated with neuronal activity and blocked by inhibiting caspases in presynaptic neurons, implicating synaptic dysfunction and cell death in aggregate spreading. Read More

Pharmacol Ther 2020 May 23:107580. Epub 2020 May 23.

Neurology and Basic Sciences, Division of Movement Disorders, Department of Neurology, Loma Linda University School of Medicine, Faculty Medical Offices, 11370 Anderson, Suite B-100, Loma Linda, CA 92350, United States of America. Electronic address:

Hyperkinetic movement disorders comprise a variety of conditions characterized by involuntary movements, which include but are not limited to tardive dyskinesia, chorea associated with Huntington's Disease, and tic disorders. The class of medications that have been used to treat these conditions includes Vesicular Monoamine Transporter-2 (VMAT2) inhibitors. In 2008, the FDA approved tetrabenazine as a treatment for chorea associated with Huntington's Disease. Read More

Autophagy 2020 May 25:1-19. Epub 2020 May 25.

Department of Pharmacology and Toxicology, University of Alabama at Birmingham School of Medicine , Birmingham, AL, USA.

Stroke is a leading cause of death and disability. The pathophysiological mechanisms associated with stroke are very complex and not fully understood. Lysosomal function has a vital physiological function in the maintenance of cellular homeostasis. Read More

Blood Adv 2020 May;4(10):2245-2253

Cancer Outcomes, Public Policy, and Effectiveness Research Center and.

Chromosome 1 abnormalities (C1As) are common genetic aberrations among patients with multiple myeloma (MM). We aimed to evaluate the significance of C1As among a contemporary cohort of patients with MM in the United States. We used electronic health records from the Flatiron Health database to select patients newly diagnosed with MM from January 2011 to March 2018 who were tested using fluorescence in situ hybridization within 90 days of diagnosis. Read More

Curr Neuropharmacol 2020 May 22. Epub 2020 May 22.

Induced Resistance and Plant Bioprotection, Faculty of Sciences University of Reims Champagne-Ardenne, Reims Cedex 51687. France.

Curcumin is a spice derived nutraceutical which gained tremendous attention because of its profound medicinal values. It alters a number of molecular pathways such as nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB), signal transducer and activator of transcription 3 (STAT3), nuclear factor erythroid 2-related factor 2 (Nrf2) and cyclooxygenases-2 (COX-2), which make it potential therapeutic choice in treating multiple disorders. It also possesses potential to prevent protein aggregation and thus protect against degeneration of neurons in neurodegenerative disorders including Huntington's disease (HD). Read More

Hum Mol Genet 2020 May 21. Epub 2020 May 21.

Research Center on Aging, CIUSSS-IUGS de l'Estrie-CHUS, FMSS, University of Sherbrooke, Department of Pharmacology and Physiology, University of Sherbrooke, Quebec, Canada.

Olfactory dysfunction and altered neurogenesis are observed in several neurodegenerative disorders including Huntington disease (HD). These deficits occur early and correlate with a decline in global cognitive performance, depression and structural abnormalities of the olfactory system including the olfactory epithelium, bulb and cortices. However, the role of olfactory system dysfunction in the pathogenesis of HD remains poorly understood and the mechanisms underlying this dysfunction are unknown. Read More

Physiol Behav 2020 May 11;222:112930. Epub 2020 May 11.

Berman Institute of Bioethics, Johns Hopkins University, Deering Hall, 1809 Ashland Avenue, Baltimore, MD, 21205, United States. Electronic address:

Several countries have implemented warnings on unhealthy foods and beverages, with similar policies under consideration in the U.S. and around the world. Read More

Blood Adv 2020 May;4(10):2192-2201

Cancer Outcomes, Public Policy, and Effectiveness Research Center.

The hypomethylating agents (HMAs) azacitidine and decitabine have been the de facto standard of care for patients with acute myeloid leukemia (AML) who are unfit for intensive therapy. Using the Surveillance, Epidemiology, and End Results-Medicare linked database, we identified 2263 older adults (age ≥66 years) diagnosed with AML during 2005-2015 who received a first-line HMA; 1154 (51%) received azacitidine, and 1109 (49%) received decitabine. Median survival from diagnosis was 7. Read More

Am J Physiol Cell Physiol 2020 May 20. Epub 2020 May 20.

Wright State University, Department of Biological Sciences, Dayton, OH, USA.

Huntington's disease (HD) patients suffer from progressive and debilitating motor dysfunction for which only palliative treatment is currently available. Previously, we discovered reduced skeletal muscle Cl channel (ClC-1) and inwardly rectifying K channel (Kir) currents in R6/2 HD transgenic mice. To further investigate the role of ClC-1 and Kir currents in HD skeletal muscle pathology, we measured the effect of reduced ClC-1 and Kir currents on action potential (AP) repetitive firing in R6/2 mice using two-electrode current-clamp. Read More

J Perinat Med 2020 May 20. Epub 2020 May 20.

Katz Women's Hospital at North Shore University Hospital, Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Manhasset, NY, USA.

The rapid progression of the coronavirus disease 2019 (COVID-19) outbreak presented extraordinary challenges to the US health care system, particularly straining resources in hard hit areas such as the New York metropolitan region. As a result, major changes in the delivery of obstetrical care were urgently needed, while maintaining patient safety on our maternity units. As the largest health system in the region, with 10 hospitals providing obstetrical services, and delivering over 30,000 babies annually, we needed to respond to this crisis in an organized, deliberate fashion. Read More

Sci Rep 2020 May 19;10(1):8278. Epub 2020 May 19.

Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.

Modulation of subthalamic nucleus (STN) firing patterns with injections of depolarizing currents into the STN is an important advance for the treatment of hypokinetic movement disorders, especially Parkinson's disease (PD). Chorea, ballism and dystonia are prototypical examples of hyperkinetic movement disorders. In our previous study, normal rats without nigro-striatal lesion were rendered hypokinetic with hyperpolarizing currents injected into the STN. Read More

Neurobiol Dis 2020 May 11;141:104941. Epub 2020 May 11.

Centre de Recherche du CHU de Québec - Université Laval, Axe Neurosciences, Québec, QC G1V 4G2, Canada; Département de Psychiatrie & Neurosciences, Université Laval, Québec, QC G1K 0A6, Canada. Electronic address:

In recent years, substantial evidence has emerged to suggest that spreading of pathological proteins contributes to disease pathology in numerous neurodegenerative disorders. Work from our laboratory and others have shown that, despite its strictly genetic nature, Huntington's disease (HD) may be another condition in which this mechanism contributes to pathology. In this study, we set out to determine if the mutant huntingtin protein (mHTT) present in post-mortem brain tissue derived from HD patients can induce pathology in mice and/or non-human primates. Read More

J Clin Pharmacol 2020 May 16. Epub 2020 May 16.

Division of Pharmacometrics, Food and Drug Administration, Silver Spring, Maryland, USA.

Development of effective therapeutics that slow Huntington's disease progression is a research priority that requires an understanding of natural disease progression. We applied a population-modeling approach to describe the progression of 2 routinely used rating scales - the total motor score and the total functional capacity score. Models were fitted to data from research participants aged ≥ 18 years with Huntington's disease stage I or II at study entry (total functional capacity score ≥ 7), from a controlled clinical trial (CARE-HD) and 2 observational studies (COHORT and Registry). Read More

Int J Mol Sci 2020 May 13;21(10). Epub 2020 May 13.

Dipartimento di Scienze Farmacologiche e Biomolecolari (DiSFeB), Dipartimento di Eccellenza 2018-2022, Centro di Eccellenza sulle Malattie Neurodegenerative, Università degli Studi di Milano, 20133 Milan, Italy.

Background: Accumulation of misfolded proteins is a common hallmark of several neurodegenerative disorders (NDs) which results from a failure or an impairment of the protein quality control (PQC) system. The PQC system is composed by chaperones and the degradative systems (proteasome and autophagy). Mutant proteins that misfold are potentially neurotoxic, thus strategies aimed at preventing their aggregation or at enhancing their clearance are emerging as interesting therapeutic targets for NDs. Read More

Neuroscience 2020 May 13;438:145-157. Epub 2020 May 13.

School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Adelaide, SA 5001, Australia. Electronic address:

Brain derived neurotrophic factor (BDNF) is a member of the neurotrophin family, best characterized for its survival and differentiative effects in the central nervous system. Pro-BDNF, known as the precursor of BDNF, is believed to have opposite functions to mature BDNF (mBDNF). The opposing effects of Pro-BDNF and mBDNF have led researchers to propose a 'yin' (Pro-BDNF) and 'yang' (mBDNF) model of which, the specific mechanism of its opposing functions is unclear and requires further investigation. Read More

Front Physiol 2020 28;11:361. Epub 2020 Apr 28.

Pharmaceutical Sciences Research Center (PSRC), The Institute of Pharmaceutical Sciences (TIPS), Tehran University of Medical Sciences, Tehran, Iran.

Misfolded proteins are the main common feature of neurodegenerative diseases, thereby, normal proteostasis is an important mechanism to regulate the neural survival and the central nervous system functionality. The ubiquitin-proteasome system (UPS) is a non-lysosomal proteolytic pathway involved in numerous normal functions of the nervous system, modulation of neurotransmitter release, synaptic plasticity, and recycling of membrane receptors or degradation of damaged and regulatory intracellular proteins. Aberrant accumulation of intracellular ubiquitin-positive inclusions has been implicated to a variety of neurodegenerative disorders such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington disease (HD), Amyotrophic Lateral Sclerosis (ALS), and Multiple Myeloma (MM). Read More

Mov Disord 2020 May 15. Epub 2020 May 15.

Laboratorio de Neurofarmacología Molecular y Nanotecnología, Instituto Nacional de Neurología y Neurocirugía "MVS", Mexico City, Mexico.

Huntington's disease is an autosomal-dominant, neurodegenerative disorder caused by a CAG repeat expansion in exon-1 of the huntingtin gene. Alterations in cholesterol metabolism and distribution have been reported in Huntington's disease, including abnormal interactions between mutant huntingtin and sterol regulatory element-binding proteins, decreased levels of apolipoprotein E/cholesterol/low-density lipoprotein receptor complexes, and alterations in the synthesis of ATP-binding cassette transporter A1. Plasma levels of 24S-hydroxycholestrol, a key intermediary in cholesterol metabolism and a possible marker in neurodegenerative diseases, decreased proportionally to the degree of caudate nucleus atrophy. Read More

Exp Neurobiol 2020 Apr;29(2):130-137

CHA Stem Cell Institute, Department of Biomedical Science, CHA University, Seongnam 13488, Korea.

Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder caused by abnormally expanded CAG repeats in the gene. The gene mutation leads to the progressive degeneration of striatal GABAergic medium spiny neurons (MSN) and reduces the level of brain-derived neurotrophic factor (BDNF) in HD patient's brain. BDNF is an essential neurotrophic factor for the cortico-striatal synaptic activity and the survival of GABAergic neurons. Read More

Neurobiol Dis 2020 May 12;141:104943. Epub 2020 May 12.

AFFiRiS AG, Vienna, Austria; Ablevia biotech GmbH, Vienna, Austria.

Huntington's disease (HD) is caused by a highly polymorphic CAG trinucleotide expansion in the gene encoding for the huntingtin protein (HTT). The resulting mutant huntingtin protein (mutHTT) is ubiquitously expressed but also exhibits the ability to propagate from cell-to-cell to disseminate pathology; a property which may serve as a new therapeutic focus. Accordingly, we set out to develop a monoclonal antibody (mAB) targeting a particularly exposed region close to the aa586 caspase-6 cleavage site of the HTT protein. Read More

Eur Heart J 2020 May 14. Epub 2020 May 14.

Department of Epidemiology, Harvard T.H. Chan School of Public Health, 655 Huntington Avenue, Building II 2nd Floor, Boston, MA 02115, USA.

Aims: To investigate whether metabolic signature composed of multiple plasma metabolites can be used to characterize adherence and metabolic response to the Mediterranean diet and whether such a metabolic signature is associated with cardiovascular disease (CVD) risk.

Methods And Results: Our primary study cohort included 1859 participants from the Spanish PREDIMED trial, and validation cohorts included 6868 participants from the US Nurses' Health Studies I and II, and Health Professionals Follow-up Study (NHS/HPFS). Adherence to the Mediterranean diet was assessed using a validated Mediterranean Diet Adherence Screener (MEDAS), and plasma metabolome was profiled by liquid chromatography-tandem mass spectrometry. Read More

J Relig Health 2020 May 13. Epub 2020 May 13.

Harvard T.H. Chan School of Public Health, Human Flourishing Program, Harvard University, 677 Huntington Avenue, Boston, MA, 02115, USA.

In light of the present pandemic, many religious communities have been asked to suspend their services and meetings. From the perspective of these communities, this comes at considerable cost to the spiritual good that these religious services bring about. Empirical evidence also indicates that the suspension of these services will have costs concerning physical and mental health as well. Read More

Int J Equity Health 2020 05 13;19(1):66. Epub 2020 May 13.

Harvard T.H. Chan School of Public Health, 677 Huntington Avenue, Boston, MA, 02115, USA.

The COVID-19 outbreak has been declared a global pandemic and cases are being reported among displaced populations that are particularly vulnerable to infection. Humanitarian workers on the frontlines of the response are working in some of the most challenging contexts and also face elevated risk of contracting COVID-19 and potential stigmatization or violence in the community. Women humanitarians may be at even greater risk, but their protection is dependent on organization-specific policies and procedures. Read More

Structure 2020 Apr 30. Epub 2020 Apr 30.

Centre de Biochimie Structurale (CBS), INSERM, CNRS, Université de Montpellier, 34090 Montpellier, France. Electronic address:

The causative agent of Huntington's disease, the poly-Q homo-repeat in the N-terminal region of huntingtin (httex1), is flanked by a 17-residue-long fragment (N17) and a proline-rich region (PRR), which promote and inhibit the aggregation propensity of the protein, respectively, by poorly understood mechanisms. Based on experimental data obtained from site-specifically labeled NMR samples, we derived an ensemble model of httex1 that identified both flanking regions as opposing poly-Q secondary structure promoters. While N17 triggers helicity through a promiscuous hydrogen bond network involving the side chains of the first glutamines in the poly-Q tract, the PRR promotes extended conformations in neighboring glutamines. Read More

Front Chem 2020 21;8:299. Epub 2020 Apr 21.

School of Materials and Physics, China University of Mining and Technology, Xuzhou, China.

There is a strong negative correlation between the polyglutamine (polyQ) domain length (Q-length) in the intrinsically disordered Huntingtin protein (Htt) exon-1 and the age of onset of Huntington's disease (HD). PolyQ of Q-length longer than 40 has the propensity of forming very compact aggregate structures, leading to HD at full penetrance. Recent advances in nanobiotechnology provided a new platform for the development of novel diagnosis and therapeutics. Read More

Exp Neurol 2020 May 7;330:113358. Epub 2020 May 7.

Department of Neurology, Center for Neurodegeneration and Experimental Therapeutics, University of Alabama, Birmingham, AL, USA; Department of Neurobiology, University of Alabama at Birmingham, Birmingham, AL, USA. Electronic address:

Huntington's disease (HD) is a dominantly inherited neurodegenerative disease caused by a polyglutamine expansion in the widely expressed huntingtin protein. Multiple studies have indicated the importance of mutant huntingtin (mHTT) in astrocytes to HD pathogenesis. Astrocytes exhibit SNARE-dependent exocytosis and gliotransmission, which can be hampered by transgenic expression of dominant negative SNARE (dnSNARE) in these glial cells. Read More

Drug Discov Today 2020 May 5. Epub 2020 May 5.

The Jackson Laboratory for Mammalian Genetics, 600 Main Street, Bar Harbor, ME 04609 USA.

Mice have been excellent surrogates for studying neutrophil biology and, furthermore, murine models of human disease have provided fundamental insights into the roles of human neutrophils in innate immunity. The emergence of novel humanized mice and high-diversity mouse populations offers the research community innovative and powerful platforms for better understanding, respectively, the mechanisms by which human neutrophils drive pathogenicity, and how genetic differences underpin the variation in neutrophil biology observed among humans. Here, we review key examples of these new resources. Read More

BMC Health Serv Res 2020 May 7;20(1):389. Epub 2020 May 7.

Global Health and Population Department, Harvard T.H. Chan School of Public Health, 677 Huntington Ave, Boston, MA, 02115, USA.

Background: Continued investment, especially from domestic financing, is needed for Ethiopia to achieve universal health coverage and a sustainable health system over time. Understanding costs of providing health services will assist the government to mobilize adequate resources for health, and to understand future costs of changes in quality of care, service provision scope, and potential decline in external resources. This study assessed costs per unit of service output, "unit costs", for government primary hospitals and health centers, and disease-specific services within each facility. Read More

Oncol Rep 2020 May 4. Epub 2020 May 4.

Department of Orthopedic Surgery, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.

A new type of bioactive polypeptides of the neurosecretory hypothalamus called proline‑rich peptides (PRPs), which are isolated from bovine neurosecretory granules of the neurohypophysis, are synthesized in the form of a common precursor protein (neurophysin vasopressin‑associated glycoprotein). Proline‑rich polypetide 1 (PRP‑1; also known as galarmin) is comprised of 15 amino acids residues, and has been suggested to possess anti‑neurodegenerative, immunoregulatory, hematopoietic, antimicrobial and antitumor properties. The cytostatic, antiproliferative effect of PRP‑1 was demonstrated in the human chondrosarcoma JJ012 and triple negative breast carcinoma MDA MB 231 cell lines. Read More

Nature 2020 05 29;581(7806):71-76. Epub 2020 Apr 29.

Department of Physiology and Neuroscience, Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

Vascular contributions to dementia and Alzheimer's disease are increasingly recognized. Recent studies have suggested that breakdown of the blood-brain barrier (BBB) is an early biomarker of human cognitive dysfunction, including the early clinical stages of Alzheimer's disease. The E4 variant of apolipoprotein E (APOE4), the main susceptibility gene for Alzheimer's disease, leads to accelerated breakdown of the BBB and degeneration of brain capillary pericytes, which maintain BBB integrity. Read More

Autophagy 2020 May 6:1-14. Epub 2020 May 6.

Laboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund University , Lund, Sweden.

Activation of macroautophagy/autophagy, a key mechanism involved in the degradation and removal of aggregated proteins, can successfully reverse Huntington disease phenotypes in various model systems. How neuronal autophagy impairments need to be considered in Huntington disease progression to achieve a therapeutic effect is currently not known. In this study, we used a mouse model of HTT (huntingtin) protein aggregation to investigate how different methods and timing of autophagy activation influence the efficacy of autophagy-activating treatment . Read More

Stem Cells 2020 May 6. Epub 2020 May 6.

Department of Biomedical Science, CHA Stem Cell Institute, CHA University, Seongnam-si, Gyeonggi-do, Republic of Korea.

Huntington's disease (HD) is a devastating, autosomal-dominant neurodegenerative disease, for which there are currently no disease-modifying therapies. Clinical trials to replace the damaged striatal medium spiny neurons (MSNs) have been attempted in the past two decades but have met with only limited success. In this study, we investigated whether a clonal, conditionally immortalized neural stem cell line (CTX0E03), which has already shown safety and signals of efficacy in chronic ischemic stroke patients, could rescue deficits seen in an animal model of HD. Read More

Adv Pharm Bull 2020 Jun 18;10(2):184-202. Epub 2020 Feb 18.

Department of Urology, Faculty of Medicine, Gaziosmanpasa University,Tokat, Turkey.

Cadmium (Cd) is a significant ecotoxic heavy metal that adversely affects all biological processes of humans, animals and plants. Exposure to acute and chronic Cd damages many organs in humans and animals (e.g. Read More

J Am Coll Radiol 2020 May;17(5S):S175-S187

Specialty Chair, Atlanta VA Health Care System and Emory University, Atlanta, Georgia.

Movement disorders and neurodegenerative diseases are a variety of conditions that involve progressive neuronal degeneration, injury, or death. Establishing the correct diagnosis of a movement disorder or neurodegenerative process can be difficult due to the variable features of these conditions, unusual clinical presentations, and overlapping symptoms and characteristics. MRI has an important role in the initial assessment of these patients, although a combination of imaging and laboratory and genetic tests is often needed for complete evaluation and management. Read More

Fortschr Neurol Psychiatr 2020 May 5. Epub 2020 May 5.

LWL Klinik für Psychiatrie, Ruhr-Universität Bochum.

Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder caused by a gene mutation in chromosome 4 that leads to an expansion of CAG - triplet repeats. It occurs mainly between the age of 30 and 50. Only less than 10 % of HD patients are younger than 20 years. Read More

Genet Med 2020 May 5. Epub 2020 May 5.

Natera, Inc., San Carlos, CA, USA.

Purpose: To present results from a large cohort of individuals receiving expanded carrier screening (CS) in the United States.

Methods: Single-gene disorder carrier status for 381,014 individuals was determined using next-generation sequencing (NGS) based CS for up to 274 genes. Detection rates were compared with literature-reported values derived from disease prevalence and carrier frequencies. Read More

Mitochondrion 2020 Apr 30;53:38-47. Epub 2020 Apr 30.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA. Electronic address:

Mitochondria are critical organelles that provide energy as ATP to the cell. Besides 37 genes encoded by mitochondrial genome, it has been estimated that over 1500 nuclear genes are required for mitochondrial structure and function. Thus, mutations of many genes in the nuclear genome cause dysfunction of mitochondria that can lead to many severe conditions. Read More

Pathol Res Pract 2020 Apr 21:152965. Epub 2020 Apr 21.

Cabell Huntington Hospital Laboratory, Department of Pathology, Marshall University Joan C. Edwards School of Medicine, Huntington, WV, 25701, USA.

Background: In the United States endometrial carcinoma is the most common female gynecologic malignancy. An average of more than 60,000 new cases of endometrial carcinomas have been diagnosed yearly over the past 5 years, with a higher incidence occurring in the central Appalachian states of Ohio and West Virginia. In the U. Read More

J Clin Med 2020 Apr 26;9(5). Epub 2020 Apr 26.

Laboratory of Molecular Disease and Cell Regulation, Department of Biochemistry, School of Medicine, Gachon University, Incheon 406-840, Korea.

The expression of PARK7 is upregulated in various types of cancer, suggesting its potential role as a critical regulator of the pathogenesis of cancer and in the treatment of cancer and neurodegenerative diseases, including Parkinson's disease, Alzheimer's disease, and Huntington disease. PARK7 activates various intracellular signaling pathways that have been implicated in the induction of tumor progression, which subsequently enhances tumor initiation, continued proliferation, metastasis, recurrence, and resistance to chemotherapy. Additionally, secreted PARK7 has been identified as a high-risk factor for the pathogenesis and survival of various cancers. Read More

eNeuro 2020 May/Jun;7(3). Epub 2020 May 21.

Division of Biomedical Sciences, Faculty of Medicine, Memorial University, St. John's, Newfoundland A1B 3V6, Canada

Glutamate transporters, particularly glutamate transporter 1 (GLT-1), help to prevent the adverse effects associated with glutamate toxicity by rapidly clearing glutamate from the extracellular space. Since GLT-1 expression and/or function are reduced in many neurodegenerative diseases, upregulation of GLT-1 is a favorable approach to treat the symptoms of these diseases. Ceftriaxone, a β-lactam antibiotic reported to increase GLT-1 expression, can exert neuroprotective effects in a variety of neurodegenerative diseases; however, many of these diseases do not exhibit uniform brain pathology. Read More

Comp Biochem Physiol C Toxicol Pharmacol 2020 Aug 27;234:108772. Epub 2020 Apr 27.

Programa de Pós-Graduação em Medicina e Ciências da Saúde, Escola de Medicina, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, RS, Brazil; Laboratório de Neuroquímica e Psicofarmacologia, Escola de Ciências da Saúde e da Vida, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, RS, Brazil; Instituto Nacional de Ciência e Tecnologia em Doenças Cerebrais, Excitotoxicidade e Neuroproteção, Porto Alegre, RS, Brazil. Electronic address:

Long-term treatment with 3-nitropropionic acid (3-NPA), a toxin derived from plants and fungi, may reproduce symptoms and biochemical characteristics of Huntington's disease (HD). Our study evaluated the effects of 3-NPA on the physiological and behavioral responses in zebrafish larvae and adults. Larvae exposed to 0. Read More

Cureus 2020 Mar 27;12(3):e7431. Epub 2020 Mar 27.

Pulmonary Medicine, Marshall University, Joan C. Edwards School of Medicine, Huntington, USA.

Clopidogrel is one of the most commonly prescribed thienopyridines used postcoronary stenting for acute coronary syndrome (ACS). There have been several concerns regarding performing small-bore thoracocentesis on patients on clopidogrel in our practice. We present an 85-year-old male with a history of diabetes, atrial fibrillation, diastolic heart failure, chronic kidney disease (CKD) stage three, who recently had a non-ST elevation myocardial infarction (NSTEMI) requiring a drug-eluting stent (DES) to the left anterior descending (LAD) artery, and was on dual anti-platelet therapy (DAPT). Read More