Search Our Scientific Publications & Authors

Phytomedicine 2018 Nov 14;59:152756. Epub 2018 Nov 14.

Department of Biotechnology and Animal Science, National Ilan University, Ilan, Taiwan, ROC. Electronic address:

Background: According to Compendium of Materia Medica, Gastrodia elata (GE) Blume as a top grade and frequently prescribed herbal medicine has been used in treating dizziness, headaches, and epilepsy, indicating a neuroprotective effect. Because GE is capable of suppressing a hyperactive liver and thus calming endogenous wind, and because Huntington's disease (HD) can be classified as a phenomenon of disturbed liver wind, it is suggested that GE might be beneficial in treating HD. However, although current studies support GE for the prevention of diverse neurodegenerations such as HD, its detailed mechanisms remain elusive. Read More

Front Mol Biosci 2019 3;6:20. Epub 2019 Apr 3.

Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.

Increasing evidence in recent years indicates that protein misfolding and aggregation, leading to ER stress, are central factors of pathogenicity in neurodegenerative diseases. This is particularly true in Huntington's disease (HD), where in contrast with other disorders, the cause is monogenic. Mutant huntingtin interferes with many cellular processes, but the fact that modulation of ER stress and of the unfolded response pathways reduces the toxicity, places these mechanisms at the core and gives hope for potential therapeutic approaches. Read More

J Emerg Med 2019 Apr 15. Epub 2019 Apr 15.

Department of Emergency Medicine, Huntington Hospital, Huntington, New York.

Background: Hemorrhagic cholecystitis is a rare complication of acute cholecystitis and is a potentially fatal diagnosis. It may be difficult to detect because the symptoms are similar to more common diagnoses. Point-of-care ultrasound is a useful imaging technique in the emergency setting and is readily available to allow for immediate interpretation and application of the results to guide medical decision making. Read More

PLoS One 2019 18;14(4):e0215384. Epub 2019 Apr 18.

Morton and Gloria Shulman Movement Disorders Centre and the Edmond J Safra Program in Parkinson's Research, Toronto Western Hospital, Toronto, Ontario, Canada.

Background: Successful patient-physician communication is critical for improving health outcomes, but research regarding optimal communication practices in Parkinson's disease is limited. The objective of the current study was to investigate barriers and facilitators of communication between persons with Parkinson's disease, carepartners, and physicians, specifically in the setting of off periods, with the goal of identifying ways to improve patient-carepartner-physician communication.

Method: We interviewed persons with Parkinson's, carepartners, and physicians (specialists and non-specialists) using a semi-structured questionnaire to identify and describe experiences, barriers, and facilitators relating to communication about off periods in Parkinson's disease. Read More

Neurosci Biobehav Rev 2019 Apr 14. Epub 2019 Apr 14.

Island Medical Program, University of British Columbia, Victoria, BC, Canada; Division of Medical Sciences, University of Victoria, Victoria, BC, Canada. Electronic address:

Major depressive disorder (MDD) is a highly prevalent psychiatric disorder and a major cause of disability worldwide. This neurological condition is commonly associated with neurodegenerative diseases such as Alzheimer's Disease (AD), Parkinson's Disease (PD) and Huntington's Disease (HD), and has a significant impact on the increasing burden of these neuropathologies. Over the past decades, some of the pathophysiological and molecular mechanisms that contribute to these diseases have been elucidated and these findings indicate that, despite presenting distinct features, there are several similarities between the neurobiological alterations that lead to MDD and neurodegeneration in AD, PD and HD. Read More

Eur J Epidemiol 2019 Apr 13. Epub 2019 Apr 13.

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

Chronological age alone is not a sufficient measure of the true physiological state of the body. The aims of the present study were to: (1) quantify biological age based on a physiological biomarker composite model; (2) and evaluate its association with death and age-related disease onset in the setting of an elderly population. Using structural equation modeling we computed biological age for 1699 individuals recruited from the first and second waves of the Rotterdam study. Read More

Mol Ther Methods Clin Dev 2019 Jun 16;13:334-343. Epub 2019 Mar 16.

Department of Research and Development, uniQure biopharma B.V., Amsterdam, the Netherlands.

Huntington disease (HD) is a fatal neurodegenerative disorder caused by an autosomal dominant CAG repeat expansion in the () gene. The translated expanded polyglutamine repeat in the HTT protein is known to cause toxic gain of function. We showed previously that strong HTT lowering prevented neuronal dysfunction in HD rodents and minipigs after single intracranial injection of adeno-associated viral vector serotype 5 expressing a microRNA targeting human (AAV5-miHTT). Read More

Biochem Cell Biol 2019 Apr 11. Epub 2019 Apr 11.

University of Victoria , Department of Biochemistry and Microbiology , P.O. Box 3055 , Victoria, British Columbia, Canada , V8W 3P6 ;

The 40th International Asilomar Chromatin, Chromosomes and Epigenetics Conference was held in the Asilomar Conference Grounds, Pacific Groove California, USA on December 6Th-9th 2018. The organizing committee consisted of established scientists in the fields of chromatin and epigenetics: Sally Pasion and Michael Goldman from the Biology Department, San Francisco State University, CA, USA, Philippe Georgel from the Department of Biological Sciences, Marshal University, WV, USA, Juan Ausió from the Biochemistry and Microbiology, University of Victoria, BC, Canada and Christopher Eskiw from the Department of Biochemistry, University of Saskatchewan, SK, Canada. The meeting had two keynote speakers: Jessica Tyler and Jennifer Mitchell and it covered topics on transcription, replication and repair, epigenetics, cell differentiation and disease, telomeres and centromeres and it had two sessions devoted to nuclear and genomic organization. Read More

Neurology 2019 Apr 10. Epub 2019 Apr 10.

From the Departments of Psychiatry (A.T., E.E., V.M., P.E.-P., E.M.), Radiology (V.M.), Neurology (K.M., P.E.-P.), and Pediatrics (K.M.), University of Iowa Hospitals and Clinics, Iowa City; Department of Biostatistics (J.D.), University of Iowa College of Public Health, Iowa City; and Department of Psychiatry and Behavioral Sciences (W.D.), Johns Hopkins University, Baltimore, MD.

Objective: To assess brain morphometry in a sample of patients with juvenile-onset Huntington disease (JOHD) and several mouse models of Huntington disease (HD) that likely represent the human JOHD phenotype.

Methods: Despite sharing the mutation in the Huntingtin gene, adult-onset HD characteristically presents as a hyperkinetic motor disorder, while JOHD typically presents as a hypokinetic motor disease. The University of Iowa Kids-JHD program enrolls individuals 5 to 25 years of age who have already received the clinical diagnosis. Read More

Subst Use Misuse 2019 Apr 9:1-15. Epub 2019 Apr 9.

d Robert C. Byrd Health Sciences Center (North), Department of Pharmaceutical Systems & Policy , West Virginia University , Morgantown , West Virginia , USA.

Background: Compared with the general United States (US) population, Muslims in the US exhibit elevated rates of tobacco use. As a result, they might be at a higher risk for preventive disease and premature death as compared with the general US population.

Objective: This study investigated the Social Cognitive Theory (SCT) factors that are associated with tobacco use among a sample of adult Muslims in the US. Read More

Int J Nephrol Renovasc Dis 2019 21;12:49-58. Epub 2019 Mar 21.

Marshall University, Huntington, WV, USA,

Background: Data derived from the Cardiovascular Outcomes in Renal Atherosclerotic Lesions (CORAL) study were analyzed in an effort to employ machine learning methods to predict the composite endpoint described in the original study.

Methods: We identified 573 CORAL subjects with complete baseline data and the presence or absence of a composite endpoint for the study. These data were subjected to several models including a generalized linear (logistic-linear) model, support vector machine, decision tree, feed-forward neural network, and random forest, in an effort to attempt to predict the composite endpoint. Read More

Open Biol 2019 Jan;9(1):180177

1 Institute of Cellular and Organismic Biology, Academia Sinica , Taipei 11529 , Taiwan, Republic of China.

Adult-onset neurodegenerative diseases are among the most difficult human health conditions to model for drug development. Most genetic or toxin-induced cell and animal models cannot faithfully recapitulate pathology in disease-relevant cells, making it excessively challenging to explore the potential mechanisms underlying sporadic disease. Patient-derived induced pluripotent stem cells (iPSCs) can be differentiated into disease-relevant neurons, providing an unparalleled platform for in vitro modelling and development of therapeutic strategies. Read More

Drug Alcohol Depend 2019 May 22;198:192-198. Epub 2019 Mar 22.

Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA; Massachusetts General Hospital Center for Global Health, Boston, MA, USA; Harvard Medical School, Boston, MA, USA. Electronic address:

Background: South Africa has the highest number of people living with HIV (PLWH) and one of the largest antiretroviral therapy (ART) programs globally. High rates of substance use comorbidity exist, including speculation of recreational ART use (i.e. Read More

Cell Signal 2019 Apr 2;60:31-38. Epub 2019 Apr 2.

IMED Biotech Unit, R&D, AstraZeneca Neuroscience, Boston, MA 024515, USA. Electronic address:

The dual-specific cAMP/cGMP phosphodiesterase PDE10A is exclusively localised to regions of the brain and specific cell types that control crucial brain circuits and behaviours. The downside to this expression pattern is that PDE10A is also positioned to be a key player in pathology when its function is perturbed. The last decade of research has seen a clear role emerge for PDE10A inhibition in modifying behaviours in animal models of psychosis and Huntington's disease. Read More

Cornea 2019 Apr 2. Epub 2019 Apr 2.

Department of Ophthalmology, University of North Carolina, Chapel Hill, NC.

Purpose: To determine whether improvement in the severity of dry eye disease (DED) symptoms correlates with improvement in anxiety and depression.

Methods: This prospective interventional case series recruited 45 adults with evidence of DED. Patients were administered the University of North Carolina Dry Eye Management Scale (DEMS), Generalized Anxiety Disorder 7-item scale (GAD-7), and Personal Health Questionnaire Depression Scale (PHQ-8) to evaluate the severity of DED symptoms, anxiety, and depression, respectively. Read More

J Palliat Care 2019 Apr 5:825859719835560. Epub 2019 Apr 5.

2 Hand in Hand/Pediatric Palliative Care Division, Department of Pediatrics, Children's Hospital and Medical Center, Omaha, NE, USA.

Objectives:: To consider the impact of juvenile Huntington disease (JHD) from a biomedical, symptom burden, and total pain palliative care perspective.

Methods:: This case report was informed by a narrative review of the literature with inclusion of expert opinion from pediatric palliative care, an adult and pediatric neurologist, and a child psychiatrist. Audio-recorded qualitative interview and coauthorship with the pediatric patient's primary caregiver (his mother). Read More

Mov Disord Clin Pract 2019 Mar 16;6(3):202-212. Epub 2019 Jan 16.

Department of Cell and Molecular Medicine Rush University Medical Center Chicago IL USA.

Background: Huntington's disease (HD) is characterized by chorea, balance and gait impairments, and cognitive deficits, which increase fall risk. Dual task (DT) and environmentally challenging paradigms reflect balance related to everyday life. Furthermore, the impact of cognitive deficits on balance dysfunction and falls in HD is unknown. Read More

Front Cell Neurosci 2019 19;13:103. Epub 2019 Mar 19.

Department of Neuroscience, School of Medicine, University of Minnesota, Minneapolis, MN, United States.

Huntington's disease (HD) is a neurodegenerative disease caused by an expanded CAG repeat in the huntingtin () gene, causing the protein to misfold and aggregate. HD progression is characterized by motor impairment and cognitive decline associated with the preferential loss of striatal medium spiny neurons (MSNs). The mechanisms that determine increased susceptibility of MSNs to mutant HTT (mHTT) are not fully understood, although there is abundant evidence demonstrating the importance of mHTT mediated mitochondrial dysfunction in MSNs death. Read More

Neuropharmacology 2019 Mar 30;151:1-12. Epub 2019 Mar 30.

Department of Pharmacology, Dalhousie University, Canada. Electronic address:

Huntington's disease (HD) is an inherited progressive neurodegenerative disease characterized by motor, cognitive, and behavioural changes. One of the earliest changes to occur in HD is a reduction in cannabinoid 1 receptor (CB) levels in the striatum, which is strongly correlated with HD pathogenesis. CB positive allosteric modulators (PAM) enhance receptor affinity for, and efficacy of activation by, orthosteric ligands, including the endocannabinoids anandamide and 2-arachidonoylglycerol. Read More

Mol Neurobiol 2019 Apr 2. Epub 2019 Apr 2.

Translational Laboratory in Genetic Medicine, Agency for Science, Technology and Research, Singapore (A*STAR), 8A Biomedical Grove, Immunos, Level 5, Singapore, 138648, Singapore.

White matter (WM) abnormalities are a well-established feature of Huntington disease (HD), although their nature is not fully understood. Here, we asked whether remyelination as a measure of WM plasticity is impaired in a model of HD. Using the cuprizone assay, we examined demyelination and remyelination responses in YAC128 HD mice. Read More

Biochem Soc Trans 2019 Apr 1. Epub 2019 Apr 1.

Swansea University Medical School, ILS1 Building, Singleton Park, Swansea SA2 8PP, Wales, U.K.

In the present study, we discuss the recent developments in oxysterol research. Exciting results have been reported relating to the involvement of oxysterols in the fields of neurodegenerative disease, especially in Huntington's disease, Parkinson's disease and Alzheimer's disease; in signalling and development, in particular, in relation to Hedgehog signalling; and in cancer, with a special focus on (25R)26-hydroxycholesterol. Methods for the measurement of oxysterols, essential for understanding their mechanism of action , and valuable for diagnosing rare diseases of cholesterol biosynthesis and metabolism are briefly considered. Read More

Nutr Metab Cardiovasc Dis 2019 Feb 14. Epub 2019 Feb 14.

Department of Emergency Medicine, Massachusetts General Hospital, Harvard Medical School, 125 Nashua Street, Suite 920, Boston, MA, USA.

Background And Aims: Gastric bypass is known to have larger effects on weight and metabolism than gastric banding. However, scarce data exist as to whether the differences are translated into differential risks of cardiovascular disease (CVD)-related morbidities. The objective was to examine whether adults with obesity and CVD who underwent gastric bypass have a lower rate of acute care use (emergency department [ED] visit or unplanned hospitalization) for CVD than those with gastric banding. Read More

JAMA Neurol 2019 Apr 1. Epub 2019 Apr 1.

German Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany.

Importance: Nine hereditary neurodegenerative diseases are known as polyglutamine diseases, including Huntington disease, 6 spinocerebellar ataxias (SCAs) (SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17), dentatorubral-pallidoluysion atrophy, and spinal bulbar muscular atrophy.

Objective: To determine the prevalence of carriers of intermediate and pathological polyglutamine disease-associated alleles among the general population.

Design, Setting, And Participants: This observational cross-sectional study included data from 5 large European population-based cohorts that were compiled between 1997 and 2012, and the analyses were conducted in 2018. Read More

J Huntingtons Dis 2019 Mar 28. Epub 2019 Mar 28.

Neuroscience Institute, Georgia State University, Atlanta, GA, USA.

Background: Gray matter (GM) atrophy in the striatum and across the brain is a consistently reported feature of the Huntington Disease (HD) prodrome. More recently, widespread prodromal white matter (WM) degradation has also been detected. However, longitudinal WM studies are limited and conflicting, and most analyses comparing WM and clinical functioning have also been cross-sectional. Read More

Neurochem Int 2019 Jun 29;126:218-228. Epub 2019 Mar 29.

Department of Biochemistry and Immunology, Institute of Biological Sciences (ICB), Universidade Federal de Minas Gerais, Belo Horizonte, MG, 31270-901, Brazil. Electronic address:

The growing elderly population world widely prompts the need for studies regarding aged brain and its susceptibility to neurodegenerative diseases. It has been shown that aged brain exhibits several alterations, including neuroinflammation, which prone this organ to neurodegenerative processes. Metabotropic glutamate receptor 5 (mGlu receptor) has a role in neuronal cell loss and inflammation. Read More

Cell Metab 2019 Mar 26. Epub 2019 Mar 26.

Division of Molecular Biophysics and Integrated Bioimaging, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA. Electronic address:

The basis for region-specific neuronal toxicity in Huntington disease is unknown. Here, we show that region-specific neuronal vulnerability is a substrate-driven response in astrocytes. Glucose is low in HdhQ(150/150) animals, and astrocytes in each brain region adapt by metabolically reprogramming their mitochondria to use endogenous, non-glycolytic metabolites as an alternative fuel. Read More

AIDS Behav 2019 Mar 30. Epub 2019 Mar 30.

Department of Neurosciences, University of California, San Diego, 9500 Gilman Drive, Mail Code 0935, La Jolla, CA, 92093, USA.

Antiretroviral (ARV) adherence is critical in monitoring disease response in youth with perinatally-acquired HIV (PHIV). We used pharmacy refill (PR) information for PHIV youth from the PHACS Memory Sub-study to calculate medication availability over 2, 4, and 6 months. PR, a proxy of adherence, was compared with self-reported 7-day adherence in predicting suppressed viral load (SVL < 400 copies/mL) and higher CD4% (≥ 25%). Read More

Neurobiol Aging 2019 Feb 20;78:130-141. Epub 2019 Feb 20.

MRC Laboratory for Molecular Cell Biology, University College London, London, UK; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK.

Induced pluripotent stem cells and their derivatives have become an important tool for researching disease mechanisms. It is hoped that they could be used to discover new therapies by providing the most reliable and relevant human in vitro disease models for drug discovery. This review will summarize recent efforts to use stem cell-derived neurons for drug screening. Read More

Eye (Lond) 2019 Mar 28. Epub 2019 Mar 28.

Doheny Eye Institute, University of California, Los Angeles, CA, USA.

Purpose: To investigate fluorescence lifetime imaging ophthalmoscopy (FLIO) findings in preclinical Alzheimer's disease (AD).

Methods: This prospective, observational study enrolled patients with early AD undergoing Alzheimer's biomarker analysis and matched controls. Alzheimer-associated parameters (β-amyloid [Aβ], total tau in cerebrospinal fluid [CSF], Mini-Mental Status Examination [MMSE], etc. Read More

J Clin Hypertens (Greenwich) 2019 Mar 26. Epub 2019 Mar 26.

Internal Medicine Department, Joan C. Edwards School of Medicine at Marshall University, Huntington, West Virginia.

Cells 2019 Mar 23;8(3). Epub 2019 Mar 23.

Mitochon Pharmaceuticals, Inc., 970 Cross Lane, Blue Bell, PA 19422, USA.

In the sanctity of pure drug discovery, objective reasoning can become clouded when pursuing ideas that appear unorthodox, but are spot on physiologically. To put this into historical perspective, it was an unorthodox idea in the 1950's to suggest that warfarin, a rat poison, could be repositioned into a breakthrough drug in humans to protect against strokes as a blood thinner. Yet it was approved in 1954 as Coumadin and has been prescribed to billions of patients as a standard of care. Read More

Mitochondrion 2019 Mar 20. Epub 2019 Mar 20.

Department of Veterinary Sciences, University of Wyoming, Laramie, WY 82070, USA. Electronic address:

Huntington's disease (HD) is a progressive ultimately fatal disorder caused by a glutamine-encoding CAG expansion in the huntingtin (HTT) gene that results in degeneration mainly in striatal and cerebro-cortical brain regions. Mitochondrial dysfunction is one important facet of HD pathogenesis. Here we used R6/2 and YAC128 HD mouse models of human HD, that express different HTT transgenes and have different progression rates, to identify HD brain mitochondrial proteomic signatures. Read More

Mov Disord 2019 Mar 22. Epub 2019 Mar 22.

Gardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, Ohio, USA.

Curr Atheroscler Rep 2019 Mar 20;21(5):18. Epub 2019 Mar 20.

Department of Nutrition, Harvard T.H. Chan School of Public Health, 665 Huntington Ave., Boston, MA, 02115, USA.

Purpose Of Review: Plant-based diets have been widely promoted for cardiovascular disease (CVD) risk reduction. This review discusses the various definitions of plant-based diets and summarizes their associations with CVD risk, specifically distinguishing between healthy and unhealthy plant-based diets.

Recent Findings: Despite wide variation in definition, most studies suggest that plant-based diets are generally beneficial for cardiovascular health. Read More

Acta Neuropsychiatr 2019 Mar 20:1-38. Epub 2019 Mar 20.

Evidence Based Medicine Research Group, Ton Duc Thang University, Ho Chi Minh City, 70000, Vietnam.

Objective: After MRI studies suggested the efficacy of ethyl-EPA in reducing the progressive brain atrophy in Huntington disease, trials were conducted to test its efficacy as a treatment for Huntington disease. Trials continued for six months did not find any significant improvement urging discontinuation of the drug. However, trials continued for 12 months indicated improvement of motor functions in these patients. Read More

Pain 2019 Apr;160(4):773-783

Department of Public Health and Primary Care, Leiden University Medical Center, Leiden, the Netherlands.

It is remarkable that studies focusing on the prevalence and the burden of pain in patients with Huntington disease (HD) are scarce. This may lead to inadequate recognition of pain and hence lack of treatment, eventually affecting the quality of life. The aim of this review is to investigate the prevalence of pain and its burden in HD by performing a systematic literature search. Read More

Prev Med Rep 2019 Jun 18;14:100833. Epub 2019 Feb 18.

GSK, 5 Crescent Drive, Philadelphia, PA 19112, USA.

Hepatitis A and B vaccine coverage is suboptimal in US adults, even among those at increased risk for infection, morbidity, or mortality. To understand where medical education and resources might enhance vaccine coverage, it is important to first identify providers and places most commonly associated with the administration of hepatitis vaccinations. We conducted a retrospective analysis of commercial and Medicare insurance claims data from 2007 to 2015 to describe provider types and places of vaccination against hepatitis A and B among adults in the US, and estimated the time to initial vaccination from first diagnosis of a condition for which the Advisory Committee on Immunization Practices (ACIP) recommends hepatitis A and/or B vaccination among at-risk adults. Read More

Cell Death Discov 2019 11;5:75. Epub 2019 Mar 11.

Ubiquitin Signaling Group, German Center for Neurodegenerative Diseases (DZNE), Sigmund-Freud-Str. 27, 53127 Bonn, Germany.

TRIAD3/RNF216 is a ubiquitin ligase of the RING-in-between-RING family. Recent publications identified TRIAD3 mutations in patients with neurological diseases, including Gordon Holmes syndrome and Huntington-like disorder. To understand the functional relevance of these disease-associated mutations, we have tested the ubiquitin ligase activity of mutated TRIAD3 in vitro. Read More

Mol Cell Neurosci 2019 Apr 12;96:47-62. Epub 2019 Mar 12.

Internal Medicine Department, Texas Tech University Health Sciences Center, 3601 4th Street, Lubbock, TX 79430, United State; Garrison Institute on Aging, South West Campus, Texas Tech University Health Sciences Center, 6630 S. Quaker Suite E, Lubbock, TX 79413, United States; Cell Biology & Biochemistry Department, Texas Tech University Health Sciences Center, 3601 4th Street, Lubbock, TX 79430, United States; Pharmacology & Neuroscience Department, Texas Tech University Health Sciences Center, 3601 4th Street, Lubbock, TX 79430, United States; Neurology Department, Texas Tech University Health Sciences Center, 3601 4th Street, Lubbock, TX 79430, United States; Speech, Language and Hearing Sciences Department, Texas Tech University Health Sciences Center, 3601 4th Street, Lubbock, TX 79430, United States; Department of Public Health, Graduate School of Biomedical Sciences, 3601 4th Street, Lubbock, TX 79430, United States. Electronic address:

Mitochondrial dysfunction is a central protagonist of Alzheimer's disease (AD) pathogenesis. Mitochondrial dysfunction stems from various factors including mitochondrial DNA damage and oxidative stress from reactive oxygen species, membrane and ionic gradient destabilization, and interaction with toxic proteins such as amyloid beta (Aβ). Therapeutic drugs such as cholinesterase and glutamate inhibitors have proven to improve synaptic neurotransmitters, but do not address mitochondrial dysfunction. Read More

J Affect Disord 2019 May 6;250:278-283. Epub 2019 Mar 6.

Massachusetts General Hospital, Department of Psychiatry, Dauten Family Center for Bipolar Treatment Innovation, 50 Staniford Street, Suite 580, Boston, MA 02114, United States; Harvard Medical School, 25 Shattuck Street, Boston, MA 02115, United States.

Background: Individuals with bipolar disorder (BD) are more likely than the general population to develop risk factors associated with cardiovascular disease, one of the leading causes of morbidity and mortality in this clinical population. To address this disproportionate medical burden, we developed Nutrition Exercise and Wellness Treatment (NEW Tx), a lifestyle intervention for individuals with BD.

Methods: In this study, participants were randomized to NEW Tx (n = 19) or a treatment as usual waitlist (n = 19). Read More

Epidemiol Infect 2019 Jan;147:e122

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

UNAIDS established fast-track targets of 73% and 86% viral suppression among human immunodeficiency virus (HIV)-positive individuals by 2020 and 2030, respectively. The epidemiologic impact of achieving these goals is unknown. The HIV-Calibrated Dynamic Model, a calibrated agent-based model of HIV transmission, is used to examine scenarios of incremental improvements to the testing and antiretroviral therapy (ART) continuum in South Africa in 2015. Read More

Mov Disord 2019 Mar 13. Epub 2019 Mar 13.

Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Background: Despite extensive research regarding the etiology of Huntington's disease, relatively little is known about the epidemiology of this rare disorder, particularly in the United States where there are no national-scale estimates of the disease.

Objectives: To provide national-scale estimates of Huntington's disease in a U.S. Read More

Neurology 2019 Mar 13. Epub 2019 Mar 13.

From the Neurology Department (E.C., C.G.-P., I.M., K.L., N.M., D.D., A.G., L.A.) and Research Unit (S.C.), Hospital Universitario Burgos; Movement Disorders Unit, Neurology Department (S.-I.M.-H., F.S.S.), Hospital de La Santa Creu I Sant Pau, Barcelona; Centro de Investigación en Red-Enfermedades Neurodegenerativas (CIBERNED) (S.-I.M.-H., F.S.S.), Madrid; Neurology Department (A.M.D.), Fundación Jiménez Diez, Madrid; and Genetic Department (M.A.R.-A.), Complejo Hospitalario de Navarra, Pamplona, Spain.

Objective: Because patients homozygous for Huntington disease (HD) receive the gain-of-function mutation in a double dose, one would expect a more toxic effect in homozygotes than in heterozygotes. Our aim was to investigate the phenotypic differences between homozygotes with both alleles ≥36 CAG repeats and heterozygotes with 1 allele ≥36 CAG repeats.

Methods: This was an international, longitudinal, case-control study (European Huntington's Disease Network Registry database). Read More

Breast Cancer Res 2019 03 12;21(1):40. Epub 2019 Mar 12.

Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, 181 Longwood Ave, Boston, MA, 02115, USA.

Background: Epidemiologic data suggest that parity increases risk of hormone receptor-negative breast cancer and that breastfeeding attenuates this association. Prospective data, particularly on the joint effects of higher parity and breastfeeding, are limited.

Methods: We investigated parity, breastfeeding, and breast cancer risk by hormone-receptor (estrogen (ER) and progesterone receptor (PR)) and molecular subtypes (luminal A, luminal B, HER2-enriched, and basal-like) in the Nurses' Health Study (NHS; 1976-2012) and NHSII (1989-2013). Read More

J Natl Compr Canc Netw 2019 Mar;17(3):211-219

bDepartment of Chronic Disease Epidemiology, Yale School of Public Health.

ABSTRACTBackground: Current guidelines recommend hydroxyurea (HU) as frontline therapy for patients with high-risk essential thrombocythemia (ET) to prevent thrombosis. However, little is known about the impact of HU on thrombosis or survival among these patients in the real-world setting.

Patients And Methods: A retrospective cohort study was conducted of older adults (aged ≥66 years) diagnosed with ET from 2007 through 2013 using the linked SEER-Medicare database. Read More

J Huntingtons Dis 2019 Mar 7. Epub 2019 Mar 7.

Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.

Background: Huntington's disease can present at almost any age but traditionally, those with an onset ≤20 years are described as having juvenile onset Huntington's disease (JOHD). They are more likely to have bradykinesia and dystonia earlier in the course of the disease. The Total Motor Score of the Unified Huntington's Disease Rating Scale (UHDRS-TMS) is often used as the principal outcome measure in clinical trials. Read More

Neuropsychol Rehabil 2019 Mar 8:1-19. Epub 2019 Mar 8.

d Department of Physical Medicine & Rehabilitation , University of Michigan , Ann Arbor , MI , USA.

Chorea, a hallmark symptom of Huntington's disease (HD), is characterized by jerky involuntary movements affecting the whole body that can interfere with daily functioning and impact health-related quality of life (HRQOL). To characterize chorea's impact on everyday functioning and HRQOL and identify patterns of perception and experiences of chorea among patients, caregivers, and providers. Data from focus groups of individuals with manifest HD (n = 8 early-stage HD; n = 16 late-stage HD), individuals at-risk or prodromal HD (n = 16), family HD caregivers (n = 17), and HD clinicians (n = 25). Read More

Neurochem Res 2019 Mar 7. Epub 2019 Mar 7.

Department of Physiology and Biophysics, Albert Einstein College of Medicine, 1300 Morris Park Ave, Bronx, NY, 10641-2304, USA.

According to recent findings, the human 2-oxoglutarate dehydrogenase complex (hOGDHc) could be an important source of the reactive oxygen species in the mitochondria and could contribute to mitochondrial abnormalities associated with multiple neurodegenerative diseases, including Alzheimer's disease, Huntington disease, and Parkinson's disease. The human 2-oxoadipate dehydrogenase (hE1a) is a novel protein, which is encoded by the DHTKD1 gene. Both missence and nonsense mutations were identified in the DHTKD1 that lead to alpha-aminoadipic and alpha-oxoadipic aciduria, a metabolic disorder with a wide variety of the neurological abnormalities, and Charcot-Marie-Tooth disease type 2Q, an inherited neurological disorder affecting the peripheral nervous system. Read More