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Database (Oxford) 2021 May;2021

Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, 1300 York Avenue, New York, NY 10065, USA.

Since the beginning of the coronavirus disease-2019 (COVID-19) pandemic in 2020, there has been a tremendous accumulation of data capturing different statistics including the number of tests, confirmed cases and deaths. This data wealth offers a great opportunity for researchers to model the effect of certain variables on COVID-19 morbidity and mortality and to get a better understanding of the disease at the epidemiological level. However, in order to draw any reliable and unbiased estimate, models also need to take into account other variables and metrics available from a plurality of official and unofficial heterogenous resources. Read More

Chemosphere 2021 Jul 25;275:130027. Epub 2021 Feb 25.

Department of Environmental Health, Harvard T. H. Chan School of Public Health, 677 Huntington Ave, Boston, MA, 02115, USA; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA. Electronic address:

Background: Dioxins, furans and polychlorinated biphenyls (PCBs) are endocrine disruptors with half-lives of months to years in humans. Peripubertal exposure to these chemicals may disrupt pubertal timing. Biomarker exposure metrics like the sum of non-dioxin-like PCBs in serum (∑NDL-PCBs) involve chemicals with different hypothetical effects. Read More

Elife 2021 May 13;10. Epub 2021 May 13.

Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.

Recent work on Huntington disease (HD) suggests that somatic instability of CAG repeat tracts, which can expand into the hundreds in neurons, explains clinical outcomes better than the length of the inherited allele. Here, we measured somatic expansion in blood samples collected from the same 50 HD mutation carriers over a twenty-year period, along with post-mortem tissue from 15 adults and 7 fetal mutation carriers, to examine somatic expansions at different stages of life. Post-mortem brains, as previously reported, had the greatest expansions, but fetal cortex had virtually none. Read More

Mov Disord Clin Pract 2021 May 30;8(4):555-562. Epub 2021 Mar 30.

Department of Neurology Virginia Commonwealth University Richmond Virginia USA.

Background: Huntington disease (HD) is an inherited neurodegenerative disorder characterized by motor, psychiatric, and cognitive symptoms. Little is known about the effects of environmental factors on HD symptom onset and severity.

Objective: To evaluate the relationship between education level and age of diagnosis, symptom onset, and symptom severity in HD. Read More

Mov Disord Clin Pract 2021 May 9;8(4):521-524. Epub 2021 Mar 9.

Movement Disorders Unit, Department of Neurology Fundacion Jimenez Diaz Madrid Spain.

Electroconvulsive therapy (ECT) has been a very well known therapy in Psychiatry for over 80 years. ECT is considered useful in treating acute mania, severe depression and other psychiatric conditions. Over time, this therapy has also been used in several movement disorders including Parkinson disease (PD) and Huntington disease (HD). Read More

Acta Neuropathol Commun 2021 May 12;9(1):86. Epub 2021 May 12.

VA Boston Healthcare System, 150 S. Huntington Ave, Boston, MA, 02130, USA.

Chronic traumatic encephalopathy (CTE) is a progressive neurodegenerative disease, characterized by hyperphosphorylated tau, found in individuals with a history of exposure to repetitive head impacts. While the neuropathologic hallmark of CTE is found in the cortex, hippocampal tau has proven to be an important neuropathologic feature to examine the extent of disease severity. However, the hippocampus is also heavily affected in many other tauopathies, such as Alzheimer's disease (AD). Read More

Ageing Res Rev 2021 May 9;69:101358. Epub 2021 May 9.

Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA. Electronic address:

Huntington disease (HD) is an autosomal dominant neurodegenerative disease that is caused by expansion of cytosine/adenosine/guanine repeats in the huntingtin (HTT) gene, which leads to a toxic, aggregation-prone, mutant HTT-polyQ protein. Beyond the well-established mechanisms of HD progression in the central nervous system, growing evidence indicates that also peripheral tissues are affected in HD and that systemic signaling originating from peripheral tissues can influence the progression of HD in the brain. Herein, we review the systemic manifestation of HD in peripheral tissues, and the impact of systemic signaling on HD pathogenesis. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 May;38(5):446-449

Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.

Objective: To explore the genetic basis for two Chinese pedigrees affected with Huntington disease and provide prenatal diagnosis for them.

Methods: Peripheral venous blood samples were collected from the probands. PCR and capillary gel electrophoresis were used to determine the number of CAG repeats in their IT15 gene. Read More

JAMA 2021 05;325(18):1841-1851

Division of Pulmonary and Critical Care Medicine, University of Virginia, Charlottesville.

Importance: Alteration in lung microbes is associated with disease progression in idiopathic pulmonary fibrosis.

Objective: To assess the effect of antimicrobial therapy on clinical outcomes.

Design, Setting, And Participants: Pragmatic, randomized, unblinded clinical trial conducted across 35 US sites. Read More

Diabet Med 2021 May 9:e14598. Epub 2021 May 9.

IRD Global, 15 Beach Road #02-01, 189677, Singapore.

Aims: To evaluate the capacity of a pharmacist-delivered screening model for type 2 diabetes and cardiovascular disease (CVD) in identifying and referring individuals at risk.

Method: A screening program was implemented in 12 community pharmacies in three cities in the United Arab Emirates. Trained pharmacists screened adults (≥40 years) without a previous diagnosis of diabetes or CVD. Read More

Arch Psychiatr Nurs 2021 Jun 26;35(3):284-289. Epub 2021 Mar 26.

Department of Psychiatry, Vanderbilt University Medical Center, 1601 23rd Avenue South, Suite 3068, Nashville, TN 37212, USA.

Neuropsychiatric manifestations of Huntington's disease (HD) can present years before motor symptoms. Nurses with specialized training provide superior care for HD patients, but HD exposure in nursing education is limited. Here we aimed to describe the historical neuropsychiatric burden in 50 HD patients and discuss implications for psychiatric nurses. Read More

Lupus Sci Med 2021 May;8(1)

Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA

Introduction: Direct-to-family clinical trials efficiently provide data while reducing the participation burden for children and their families. Although these trials can offer significant advantages over traditional clinical trials, the process of designing and implementing direct-to-family studies is poorly defined, especially in children with rheumatic disease. This paper provides lessons learnt from the design and implementation of a self-controlled, direct-to-family pilot trial aimed to evaluate the effects of a medication management device on adherence to hydroxychloroquine in paediatric SLE. Read More

Clin Lymphoma Myeloma Leuk 2021 Mar 26. Epub 2021 Mar 26.

Division of Hematologic Malignancies and Cellular Therapeutics, The University of Kansas Medical Center, Kansas City, KS.

Introduction: Lenalidomide use in nearly all induction regimens for multiple myeloma (MM) has led to the treatment of lenalidomide-refractory disease becoming one of the most important clinical questions in its treatment. Given the lack of direct comparisons of treatment regimens for lenalidomide-refractory MM, we used a systematic review to identify randomized controlled trials (RCTs) that included lenalidomide-refractory subgroup analysis.

Methods: We performed a systematic review to identify RCTs for MM that enrolled patients with lenalidomide-refractory disease, then performed a network meta-analysis (NMA) using random effects model to compare regimens. Read More

Hum Mol Genet 2021 May 5. Epub 2021 May 5.

Guangdong Key Laboratory of Non-Human Primate Models, Guangdong-Hongkong-Macau Institute of CNS Regeneration, Jinan University, Guangzhou, 510632.

Our previous work has established a huntingtin knock-in (KI) pig model that displays striatal neuronal loss, allowing us to examine if somatic CAG expansion in striatum accounts for the preferential neurodegeneration in Huntington disease (HD). We found that HD KI pigs do not display somatic CAG expansion in striatum as HD KI mice and that the majority of polyQ repeats in exon 1 HTT in the striatum of HD KI mice are fairly stable. We also found that striatal MSH2 and MLH3, which are involved in DNA repair, are more abundant in mouse brains than pig brains. Read More

Health Policy Plan 2021 May 4. Epub 2021 May 4.

Center for Health Decision Science, Harvard T.H. Chan School of Public Health, 718 Huntington Avenue, 2nd Floor, Boston, MA 02115, USA.

High out-of-pocket (OOP) medical expenses for cervical cancer (CC) can lead to catastrophic health expenditures (CHEs) and medical impoverishment in many low-resource settings. There are 32 million women at risk for CC in Ethiopia, where CC screening is extremely limited. An evaluation of the population health and financial risk protection benefits, and their distributional consequences across socioeconomic groups, from human papillomavirus (HPV) vaccination will be critical to support CC prevention efforts in this setting. Read More

Parkinsonism Relat Disord 2021 Apr 28;87:32-38. Epub 2021 Apr 28.

Department of Epidemiology, University of California Irvine, Irvine, CA, USA; Institute for Interdisciplinary Salivary Bioscience Research, University of California Irvine, Irvine, CA, USA. Electronic address:

Objective: To investigate whether plasma NfL levels correlate with clinical symptom severity in premanifest (PM) and manifest HD (HD) individuals, and whether a NfL cut-point could distinguish PM from HD patients with reasonable accuracy.

Method: 98 participants (33 control, 26 PM, 39 HD), underwent blood sample collection and clinical assessment, using both UHDRS and non-UHDRS measures, at one academic HD Center. Years to onset (YTO), probability of disease onset in 5 years, and predicted years until 60% onset probability were also calculated. Read More

Neurobiol Dis 2021 Apr 30;155:105374. Epub 2021 Apr 30.

Department of Neurology, Biomedical Research Institute, Seoul National University Hospital, Seoul, Republic of Korea; Protein Metabolism and Neuroscience Dementia Medical Research Center, College of Medicine, Seoul National University Hospital, Seoul, Republic of Korea; Neuroscience and dementia Research Institute, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:

Background: Huntington's disease (HD) starts its pathology long before clinical manifestation, however, there is no therapy to cure it completely and only a few studies have been reported for delaying the progression of HD. Recently, it has been shown that heterochronic parabiosis can modulate the neurodegenerative diseases. Despite the importance of the transportation process of positive factors during heterochronic parabiosis, there were limited understandings because the transportation process is nanoscale, which makes it difficult to identify the messenger unit. Read More

Infect Dis Ther 2021 May 3. Epub 2021 May 3.

Department of Respiratory and Critical Care Medicine, Maoming People's Hospital, Maoming, China.

Introduction: The coronavirus disease 2019 (COVID-19) was defined as a species of beta coronavirus causing atypical respiratory disease in humans. The COVID-19 pandemic has resulted in an unprecedented health and economic crisis worldwide. Little is known about the specifics of its influence on people living with human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS) (PLWHA). Read More

J Med Imaging (Bellingham) 2021 Mar 28;8(2):024005. Epub 2021 Apr 28.

Rudi Schulte Research Institute, Santa Barbara, California, United States.

To evaluate six cerebral arterial segmentation algorithms in a set of patients with a wide range of hemodynamic characteristics to determine real-world performance. Time-of-flight magnetic resonance angiograms were acquired from 33 subjects: normal controls ( ), sickle cell disease ( ), and non-sickle anemia ( ) using a 3 Tesla Philips Achieva scanner. Six segmentation algorithms were tested: (1) Otsu's method, (2) K-means, (3) region growing, (4) active contours, (5) minimum cost path, and (6) U-net machine learning. Read More

Front Neurol 2021 14;12:616272. Epub 2021 Apr 14.

Department of Neurodegenerative Disease, Huntington's Disease Centre, University College London Queen Square Institute of Neurology, University College London, London, United Kingdom.

Neuroimaging shows considerable promise in generating sensitive and objective outcome measures for therapeutic trials across a range of neurodegenerative conditions. For volumetric measures the current gold standard is manual delineation, which is unfeasible for samples sizes required for large clinical trials. Using a cohort of early Huntington's disease (HD) patients ( = 46) and controls ( = 35), we compared the performance of four automated segmentation tools (FIRST, FreeSurfer, STEPS, MALP-EM) with manual delineation for generating cross-sectional caudate volume, a region known to be vulnerable in HD. Read More

Biochem Biophys Res Commun 2021 Apr 29;559:21-27. Epub 2021 Apr 29.

Department of Health Sciences and Technology, Sungkyunkwan University, Seoul, South Korea; Samsung Biomedical Research Institute, Research Institute for Future Medicine, Samsung Medical Center, Seoul, South Korea.

Suppressor of cytokine signaling (SOCS) proteins are primarily feedback inhibitors of cytokine signaling. The two conserved domains of SOCS proteins have distinct functions. Src homology 2 (SH2) domain inhibits cytokine receptor, while SOCS box acts as an E3 ubiquitin ligase. Read More

Clin Nutr 2021 Mar 31;40(5):2494-2503. Epub 2021 Mar 31.

Department of Environmental Health, Harvard T.H. Chan School of Public Health, 677 Huntington Avenue, Boston, MA, 02115, USA; Occupational Medicine, The Cambridge Health Alliance/Harvard Medical School, Boston, MA, 02139, USA. Electronic address:

Background & Aims: The Mediterranean lifestyle (MEDLIFE), as an overall lifestyle pattern, may be associated with a lower prevalence of metabolic syndrome. We assessed the association of a validated MEDLIFE index with metabolic syndrome and its components in a non-Mediterranean working population.

Methods: A cross-sectional analysis was conducted at baseline among 249 US career firefighters in Feeding America's Bravest 2016-2018. Read More

J Hazard Mater 2021 Jul 18;413:125453. Epub 2021 Feb 18.

Environmental Science and Engineering Department (ESED), IIT Bombay, Mumbai, India. Electronic address:

In the present study, wastewater samples acquired from five wastewater treatment plants (WWTPs), located in western India were characterized using fluorescence spectroscopy, and resin-based fractionation was conducted to fractionate DOM into hydrophobic and hydrophilic base, acid, and neutral fractions. Among several fractions, the hydrophilic acid (HIA) and hydrophilic neutral (HIN) fractions were present in higher abundance (more than 50% of DOC) compared to the hydrophilic base (HIB) fraction in both influent and effluent wastewater stream obtained from WWTPs. Tryptophan-like and tyrosine-like substances were also abundant in the influent and effluent stream of WWTPs. Read More

J Clin Monit Comput 2021 Apr 29. Epub 2021 Apr 29.

Department of Pediatrics, University of Illinois College of Medicine at Peoria, 530 NE Glen Oak Ave., Peoria, IL, 61637, USA.

The use of clinical scoring to assess for severity of respiratory distress and respiratory failure is challenging due to subjectivity and interrater variability. Transcutaneous Capnography (TcpCO) can be used as an objective tool to assess a patient's ventilatory status. This study was designed to assess for any correlation of continuous monitoring of TcpCO with the respiratory clinical scores and deterioration in children admitted for acute respiratory distress. Read More

AJNR Am J Neuroradiol 2021 Apr 29. Epub 2021 Apr 29.

Department of Radiology (T.Z.W.), Duke University Hospital, Durham, North Carolina.

This article will familiarize neuroradiologists with the pathophysiology, clinical findings, and standard MR imaging and PET imaging features of multiple forms of dementia as well as new emerging techniques. Cases were compiled from multiple institutions with the goal of improved diagnostic accuracy and improved patient care as well as information about biomarkers on the horizon. Dementia topics addressed include the following: Alzheimer disease, frontotemporal dementia, cerebral amyloid angiopathy, Lewy body dementia, Parkinson disease and Parkinson disease variants, amyotrophic lateral sclerosis, multisystem atrophy, Huntington disease vascular dementia, and Creutzfeldt-Jakob disease. Read More

Vaccines (Basel) 2021 Apr 27;9(5). Epub 2021 Apr 27.

Department of Public Health, Health Services Research and Health Technology Assessment, Institute of Public Health, Medical Decision Making and Health Technology Assessment, UMIT-University for Health Sciences, Medical Informatics and Technology, Eduard-Wallnoefer-Zentrum 1, A-6060 Hall in Tirol, Austria.

(1) Background: The Austrian supply of COVID-19 vaccine is limited for now. We aim to provide evidence-based guidance to the authorities in order to minimize COVID-19-related hospitalizations and deaths in Austria. (2) Methods: We used a dynamic agent-based population model to compare different vaccination strategies targeted to the elderly (65 ≥ years), middle aged (45-64 years), younger (15-44 years), vulnerable (risk of severe disease due to comorbidities), and healthcare workers (HCW). Read More

Int J Mol Sci 2021 Apr 28;22(9). Epub 2021 Apr 28.

Mossakowski Medical Research Centre, NeuroRepair Department, Polish Academy of Sciences, 5 Pawinskiego Street, 02-106 Warsaw, Poland.

The complement system is an assembly of proteins that collectively participate in the functions of the healthy and diseased brain. The complement system plays an important role in the maintenance of uninjured (healthy) brain homeostasis, contributing to the clearance of invading pathogens and apoptotic cells, and limiting the inflammatory immune response. However, overactivation or underregulation of the entire complement cascade within the brain may lead to neuronal damage and disturbances in brain function. Read More

Int J Mol Sci 2021 Apr 15;22(8). Epub 2021 Apr 15.

Institute of Animal Physiology and Genetics of the Czech Academy of Sciences, Laboratory of Applied Proteome Analyses and Research Center PIGMOD, Rumburska 89, 277 21 Libechov, Czech Republic.

Huntington's disease (HD) is a rare hereditary autosomal dominant neurodegenerative disorder, which is caused by expression of mutant huntingtin protein (mHTT) with an abnormal number of glutamine repeats in its N terminus, and characterized by intracellular mHTT aggregates (inclusions) in the brain. Exosomes are small extracellular vesicles that are secreted generally by all cell types and can be isolated from almost all body fluids such as blood, urine, saliva, and cerebrospinal fluid. Exosomes may participate in the spreading of toxic misfolded proteins across the central nervous system in neurodegenerative diseases. Read More

Int J Mol Sci 2021 Apr 17;22(8). Epub 2021 Apr 17.

Department of Clinical and Translational Sciences, Joan C. Edwards School of Medicine, Marshall University, Huntington, WV 25701, USA.

Electrolytes (NaCl) and fluid malabsorption cause diarrhea in inflammatory bowel disease (IBD). Coupled NaCl absorption, mediated by Na/H and Cl/HCO exchanges on the intestinal villus cells brush border membrane (BBM), is inhibited in IBD. Arachidonic acid metabolites (AAMs) formed via cyclooxygenase (COX) or lipoxygenase (LOX) pathways are elevated in IBD. Read More

Int J Mol Sci 2021 Apr 17;22(8). Epub 2021 Apr 17.

Department of Biology, University of Louisiana at Lafayette, 410 East Saint Mary Boulevard, Lafayette, LA 70503, USA.

Nucleocytoplasmic transport (NCT) across the nuclear envelope is precisely regulated in eukaryotic cells, and it plays critical roles in maintenance of cellular homeostasis. Accumulating evidence has demonstrated that dysregulations of NCT are implicated in aging and age-related neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), Alzheimer's disease (AD), and Huntington disease (HD). This is an emerging research field. Read More