8,580 results match your criteria Kennedy Disease


Quantifying in situ adaptive immune cell cognate interactions in humans.

Nat Immunol 2019 Feb 18. Epub 2019 Feb 18.

Department of Medicine, Section of Rheumatology and Gwen Knapp Center for Lupus and Immunology Research, University of Chicago, Chicago, IL, USA.

Two-photon excitation microscopy (TPEM) has revolutionized the understanding of adaptive immunity. However, TPEM usually requires animal models and is not amenable to the study of human disease. The recognition of antigen by T cells requires cell contact and is associated with changes in T cell shape. Read More

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http://dx.doi.org/10.1038/s41590-019-0315-3DOI Listing
February 2019

Cardiometabolic health in Turner syndrome.

Am J Med Genet C Semin Med Genet 2019 Feb 18. Epub 2019 Feb 18.

Children's Hospital Los Angeles, The Saban Research Institute, 4650 Sunset Blvd., MS #61, Los Angeles, California.

Individuals with Turner syndrome (TS) have a higher morbidity and mortality compared to the general population. Diabetes and cardiovascular disease are the major contributors to this burden. Precursors to diabetes and cardiovascular disease make up what is known as metabolic syndrome, including abdominal obesity, hypertension, dyslipidemia, and elevated fasting glucose. Read More

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http://dx.doi.org/10.1002/ajmg.c.31678DOI Listing
February 2019

Growth trajectories of breastfed HIV-exposed uninfected and HIV-unexposed children under conditions of universal maternal antiretroviral therapy: a prospective study.

Lancet Child Adolesc Health 2019 Feb 14. Epub 2019 Feb 14.

Division of Epidemiology and Biostatistics, University of Cape Town, Cape Town, South Africa; Centre for Infectious Disease Epidemiology and Research (CIDER), School of Public Health & Family Medicine, University of Cape Town, Cape Town, South Africa.

Background: Over 1 million HIV-exposed uninfected (HEU) children are born in sub-Saharan Africa annually. Little data exist on the risk of impaired growth in this population under current policies of universal maternal antiretroviral therapy (ART) with breastfeeding. We aimed to study the growth of breastfed HEU children born to women who initiated ART during pregnancy and compare their growth with that of breastfed HIV-unexposed (HU) children drawn from the same community. Read More

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http://dx.doi.org/10.1016/S2352-4642(19)30007-0DOI Listing
February 2019

Monogenic causes of chronic kidney disease in adults.

Kidney Int 2019 Feb 12. Epub 2019 Feb 12.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Electronic address:

Approximately 500 monogenic causes of chronic kidney disease (CKD) have been identified, mainly in pediatric populations. The frequency of monogenic causes among adults with CKD has been less extensively studied. To determine the likelihood of detecting monogenic causes of CKD in adults presenting to nephrology services in Ireland, we conducted whole exome sequencing (WES) in a multi-centre cohort of 114 families including 138 affected individuals with CKD. Read More

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http://dx.doi.org/10.1016/j.kint.2018.10.031DOI Listing
February 2019

Association Between Level of Fecal Calprotectin and Progression of Crohn's Disease.

Clin Gastroenterol Hepatol 2019 Feb 14. Epub 2019 Feb 14.

Gastrointestinal Unit, Western General Hospital, Edinburgh, UK; University of Edinburgh, UK.

Background & Aims: Mucosal healing is associated with improved outcomes in patients with Crohn's disease (CD), but assessment typically requires ileocolonoscopy. Calprotectin can be measured in fecal samples to determine luminal disease activity in place of endoscopy-this measurement is an important component of the treat to target strategy. We investigated whether levels of fecal calprotectin associate with subsequent CD progression. Read More

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http://dx.doi.org/10.1016/j.cgh.2019.02.017DOI Listing
February 2019
5 Reads

Molecularly confirmed Kabuki (Niikawa-Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities.

J Intellect Disabil Res 2019 Feb 14. Epub 2019 Feb 14.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.

Background: Kabuki (Niikawa-Kuroki) syndrome (KS) is caused by disease-causing variants in either of two components (KMT2D and KDM6A) of the histone methylation machinery. Nearly all individuals with KS have cognitive difficulties, and most have intellectual disability. Recent studies on a mouse model of KS suggest disruption of normal adult neurogenesis in the granule cell layer of the dentate gyrus of the hippocampus. Read More

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http://dx.doi.org/10.1111/jir.12596DOI Listing
February 2019

Phase I Trial of Inducible Caspase 9 T Cells in Adult Stem Cell Transplant Demonstrates Massive Clonotypic Proliferative Potential and Long-term Persistence of Transgenic T Cells.

Clin Cancer Res 2019 Feb 14. Epub 2019 Feb 14.

QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.

Inducible caspase 9 () is a cellular safety switch that can make T-cell therapy safer. The purpose of this phase I trial was to investigate the use of -transduced T-cell addback in adult patients undergoing haploidentical stem cell transplantation for high-risk hematologic malignancies. Patients undergoing myeloablative, CD34-selected haploidentical stem cell transplantation were treated with 0. Read More

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http://dx.doi.org/10.1158/1078-0432.CCR-18-3069DOI Listing
February 2019
1 Read

Association between birth attendant type and delivery site and perinatal outcomes.

Int J Gynaecol Obstet 2019 Feb 14. Epub 2019 Feb 14.

University of Alabama at Birmingham, Birmingham, Alabama.

Objective: To test the hypothesis that modified perinatal mortality, early neonatal mortality, and other measures of perinatal mortality are lower with facility births than with home births among deliveries conducted by traditional birth attendants (TBAs) or nurse-midwives.

Method: This population-based observational study used data collected prospectively for home and facility deliveries conducted by TBAs and nurse-midwives in 13 rural communities in Zambia between September 1, 2009, and December 31, 2015.

Results: We enrolled 48,956 pregnant women. Read More

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http://dx.doi.org/10.1002/ijgo.12786DOI Listing
February 2019

Psychosocial stress and C-reactive protein from mid-adolescence to young adulthood.

Health Psychol 2019 Mar;38(3):259-267

Department of Psychiatry and Biobehavioral Sciences, Cousins Center for Psychoneuroimmunology, University of California, Los Angeles.

Objective: Cardiovascular disease (CVD) is one of the most prevalent chronic conditions and leading causes of death. Although CVD clinically manifests in adulthood, underlying processes of CVD begin in the earlier decades of life. Inflammation has been shown to play a key role, but relatively little is understood about how inflammation changes over time among young individuals. Read More

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http://dx.doi.org/10.1037/hea0000701DOI Listing

HLA-B and HLA-C Differ in Their Nanoscale Organization at Cell Surfaces.

Front Immunol 2019 29;10:61. Epub 2019 Jan 29.

Faculty of Biology, Medicine and Health, Manchester Collaborative Centre for Inflammation Research, University of Manchester, Manchester, United Kingdom.

The particular HLA class I variants an individual carries influences their resistance and susceptibility to a multitude of diseases. Expression level and variation in the peptide binding region correlates with, for example, a person's progression to AIDS after HIV infection. One factor which has not yet been addressed is whether or not different HLA class I proteins organize differently in the cell membrane on a nanoscale. Read More

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http://dx.doi.org/10.3389/fimmu.2019.00061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362897PMC
January 2019

A simple score to predict severe leptospirosis.

PLoS Negl Trop Dis 2019 Feb 13;13(2):e0007205. Epub 2019 Feb 13.

Department of Medicine, Cairns Hospital, Cairns, Queensland, Australia.

Background: The case-fatality rate of severe leptospirosis can exceed 50%. While prompt supportive care can improve survival, predicting those at risk of developing severe disease is challenging, particularly in settings with limited diagnostic support.

Methodology/principal Findings: We retrospectively identified all adults with laboratory-confirmed leptospirosis in Far North Queensland, Australia, between January 1998 and May 2016. Read More

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http://dx.doi.org/10.1371/journal.pntd.0007205DOI Listing
February 2019

Economic evaluation plan of a randomised controlled trial of intra-nodular injection of anti-TNF and placebo among patients with early Dupuytren's disease: Repurposing Anti-TNF for Treating Dupuytren's Disease (RIDD).

Wellcome Open Res 2018 7;3:156. Epub 2018 Dec 7.

Kennedy Institute of Rheumatology, University of Oxford, Oxford, OX3 7FY, UK.

Dupuytren's disease (DD) is a common fibroproliferative condition of the palmar and digital fascia of the hand; however, there is currently no approved treatment for early stage DD. The objective of this paper is to describe the methods applied to assess the cost-effectiveness of adalimumab injections compared to placebo for controlling the progression of early stage DD in the Repurposing Anti-TNF for Treating Dupuytren's Disease (RIDD) trial. Measure of effectiveness and resource use will be obtained from a randomised clinical trial, carried out in three healthcare centres, and recruiting a minimum of 138 patients aged 18 years and above with a diagnosis of early stage DD. Read More

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http://dx.doi.org/10.12688/wellcomeopenres.14936.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6354323PMC
December 2018

Macroglossia, Motor Neuron Pathology, and Airway Malacia Contribute to Respiratory Insufficiency in Pompe Disease: A Commentary on Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases.

Int J Mol Sci 2019 Feb 11;20(3). Epub 2019 Feb 11.

Division of Pulmonary Medicine, Department of Pediatric, Duke University School of Medicine, Durham, NC 27710, USA.

The authors of the recently published, "Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases", provide an important review of the various mechanisms of lysosomal storage diseases (LSD) and how they culminate in similar clinical pathologies [... Read More

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http://dx.doi.org/10.3390/ijms20030751DOI Listing
February 2019
1 Read

The risk of birth defects is not associated with semen parameters or mode of conception in offspring of men visiting a reproductive health clinic.

Hum Reprod 2019 Feb 12. Epub 2019 Feb 12.

Center for Reproductive Medicine, Baylor College of Medicine, Houston, TX, USA.

Study Question: What is the relationship between semen parameters and birth defect (BD) rates in offspring of men evaluated for infertility?

Summary Answer: Among men undergoing infertility evaluation, there is no significant relationship between semen parameters and defect rates in live or still births, even when considering mode of conception.

What Is Known Already: Approximately 15% of couples have fertility difficulties, with up to a 50% male factor contribution. An increased risk of BDs exists in couples using ART, particularly IVF and ICSI, but it is unknown if this related to the ART procedures or an underlying male factor. Read More

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http://dx.doi.org/10.1093/humrep/dez005DOI Listing
February 2019
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Persistent upregulation of the β-tubulin tubb6, linked to muscle regeneration, is a source of microtubule disorganization in dystrophic muscle.

Hum Mol Genet 2019 Feb 11. Epub 2019 Feb 11.

Light Imaging Section, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, USA.

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http://dx.doi.org/10.1093/hmg/ddz035DOI Listing
February 2019

Pharmacokinetics, Safety, and Tolerability of Oxfendazole in Healthy Volunteers: a Randomized, Placebo-Controlled First-in-Human Single-Dose Escalation Study.

Antimicrob Agents Chemother 2019 Feb 11. Epub 2019 Feb 11.

Division of Infectious Diseases, Carver College of Medicine, University of Iowa, USA

Cysticercosis is a parasitic disease that frequently involves the human central nervous system (CNS) and current treatment options are limited. Oxfendazole, a veterinary medicine belonging to the benzimidazole family of anthelmintic drugs, has demonstrated substantial activity against the tissue stages of and has potential to be developed as an effective therapy for neurocysticercosis. To accelerate the transition of oxfendazole from veterinary to human use, the pharmacokinetics, safety and tolerability of oxfendazole were evaluated in healthy volunteers in this Phase 1 first-in-human (FIH) study. Read More

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http://dx.doi.org/10.1128/AAC.02255-18DOI Listing
February 2019
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Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome.

Orphanet J Rare Dis 2019 Feb 11;14(1):37. Epub 2019 Feb 11.

Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.

Background: Barth syndrome (BTHS) is an X-linked disorder caused by defects in TAZ with key clinical features including cardiomyopathy, neutropenia and skeletal myopathy. In order to gain a better understanding of the range of clinical features, identify targets for monitoring, and increase knowledge of natural history of the disease, we conducted muscle strength testing, functional exercise capacity testing, physical activity assessment, balance assessment and motion reaction time testing in 33 affected individuals and 14 controls. We analyzed data points to provide a cross-sectional quantitative spectrum of disease characteristics. Read More

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http://dx.doi.org/10.1186/s13023-019-1006-8DOI Listing
February 2019
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Data-driven multiple-level analysis of gut-microbiome-immune-joint interactions in rheumatoid arthritis.

BMC Genomics 2019 Feb 11;20(1):124. Epub 2019 Feb 11.

Department of Population and Quantitative Health Science, School of Medicine, Case Western Reserve University, Cleveland, OH, 44106, USA.

Background: Rheumatoid arthritis (RA) is the most common autoimmune disease and affects about 1% of the population. The cause of RA remains largely unknown and could result from a complex interaction between genes and environment factors. Recent studies suggested that gut microbiota and their collective metabolic outputs exert profound effects on the host immune system and are implicated in RA. Read More

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http://dx.doi.org/10.1186/s12864-019-5510-yDOI Listing
February 2019
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Potassium restriction boosts vacuolar acidity and extends lifespan in yeast.

Exp Gerontol 2019 Feb 8. Epub 2019 Feb 8.

Buck Institute for Research on Aging, Novato, CA, United States of America; Department of Plant and Microbial Biology, UC Berkeley, Berkeley, CA, United States of America. Electronic address:

Lysosome function is compromised during aging and in many disease states. Interventions that promote lysosomal activity and acidification are thus of prime interest as treatments for longevity and health. Intracellular pH can be controlled by the exchange of protons for inorganic ions, and in cells from microbes to man, when potassium is restricted in the growth medium, the cytoplasm becomes acidified. Read More

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http://dx.doi.org/10.1016/j.exger.2019.02.001DOI Listing
February 2019

Population Pharmacokinetics of Vamorolone (VBP15) in Healthy Men and Boys With Duchenne Muscular Dystrophy.

J Clin Pharmacol 2019 Feb 11. Epub 2019 Feb 11.

Department of Pharmaceutical Sciences, University at Buffalo, State University of New York, Buffalo, NY, USA.

Duchenne muscular dystrophy (DMD) is an inherited neuromuscular disorder occurring in boys and caused by mutations in the dystrophin gene. Vamorolone is a first-generation delta-9,11 compound that has favorable efficacy and side effect profiles relative to classical glucocorticoids. The pharmacokinetics (PK) of oral vamorolone were assessed in parallel-group studies in healthy men (phase 1, n = 86) and boys with DMD (phase 2a, n = 48) during 14 days of once-daily dosing with a range of doses. Read More

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http://dx.doi.org/10.1002/jcph.1388DOI Listing
February 2019
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Effect of disease-modifying therapies on subcortical gray matter atrophy in multiple sclerosis.

Mult Scler 2019 Feb 11:1352458519826364. Epub 2019 Feb 11.

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

Background:: The effects of disease-modifying therapies (DMTs) on region-specific brain atrophy in multiple sclerosis (MS) are unclear.

Objective:: To determine the effects of higher versus lower efficacy DMTs on rates of brain substructure atrophy in MS.

Methods:: A non-randomized, observational cohort of people with MS followed with annual brain magnetic resonance imaging (MRI) was evaluated retrospectively. Read More

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http://dx.doi.org/10.1177/1352458519826364DOI Listing
February 2019
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Clinical and Neuropathogenetic Aspects of Human African Trypanosomiasis.

Front Immunol 2019 25;10:39. Epub 2019 Jan 25.

Institute of Biodiversity, Animal Health and Comparative Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, United Kingdom.

Trypanosomiasis has been recognized as a scourge in sub-Saharan Africa for centuries. The disease, caused by protozoan parasites of the genus, is a major cause of mortality and morbidity in animals and man. Human African trypanosomiasis (HAT), or sleeping sickness, results from infections with or with accounting for over 95% of infections. Read More

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https://www.frontiersin.org/article/10.3389/fimmu.2019.00039
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http://dx.doi.org/10.3389/fimmu.2019.00039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355679PMC
January 2019
3 Reads

Thirty-day readmission after endovascular or surgical revascularization for chronic mesenteric ischemia: Insights from the Nationwide Readmissions Database.

Vasc Med 2019 Feb 10:1358863X18816816. Epub 2019 Feb 10.

1 Cardiovascular Institute, Warren Alpert Medical School of Brown University, Providence, RI, USA.

There are limited contemporary data on readmission after revascularization for chronic mesenteric ischemia (CMI). This study aimed to determine the rates, reasons, predictors, and costs of 30-day readmission after endovascular or surgical revascularization for CMI. Patients with CMI discharged after endovascular or surgical revascularization during 2013 to 2014 were identified from the Nationwide Readmissions Database. Read More

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http://dx.doi.org/10.1177/1358863X18816816DOI Listing
February 2019
1 Read

Genetic Characteristics of Aldosterone-Producing Adenomas in Blacks.

Hypertension 2019 Feb 11:HYPERTENSIONAHA11812070. Epub 2019 Feb 11.

From the Department of Molecular and Integrative Physiology (K.N., W.E.R.), University of Michigan, Ann Arbor.

Somatic mutations have been identified in aldosterone-producing adenomas (APAs) in genes that include KCNJ5, ATP1A1, ATP2B3, and CACNA1D. Based on independent studies, there appears to be racial differences in the prevalence of somatic KCNJ5 mutations, particularly between East Asians and Europeans. Despite the high cardiovascular disease mortality of blacks, there have been no studies focusing on somatic mutations in APAs in this population. Read More

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.118.12070DOI Listing
February 2019
1 Read

Increased cerebral blood volume in small arterial vessels is a correlate of amyloid-β-related cognitive decline.

Neurobiol Aging 2019 Jan 10;76:181-193. Epub 2019 Jan 10.

Institute for Regenerative Medicine (IREM), University of Zurich, Schlieren, Switzerland; Hospital for Psychogeriatric Medicine, Psychiatric University Hospital Zurich (PUK), Zurich, Switzerland. Electronic address:

The protracted accumulation of amyloid-β (Aβ) is a major pathologic hallmark of Alzheimer's disease and may trigger secondary pathological processes that include neurovascular damage. This study was aimed at investigating long-term effects of Aβ burden on cerebral blood volume of arterioles and pial arteries (CBVa), possibly present before manifestation of dementia. Aβ burden was assessed by 11C Pittsburgh compound-B positron emission tomography in 22 controls and 18 persons with mild cognitive impairment (MCI), [ages: 75(±6) years]. Read More

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.01.001DOI Listing
January 2019
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Clinical effect and cost-effectiveness of incorporation of point-of-care assays into early infant HIV diagnosis programmes in Zimbabwe: a modelling study.

Lancet HIV 2019 Feb 5. Epub 2019 Feb 5.

Medical Practice Evaluation Center, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; Division of Infectious Diseases, Massachusetts General Hospital, Boston, MA, USA. Electronic address:

Background: New point-of-care (POC) assays for early infant HIV diagnosis are costlier than conventional total nucleic acid assays, but could increase access to testing, shorten time to results, and expedite initiation of antiretroviral therapy. We aimed to assess the clinical benefits and cost-effectiveness of incorporating these POC assays into early infant diagnosis programmes in Zimbabwe.

Methods: We used the Cost Effectiveness of Preventing AIDS Complications (CEPAC)-Pediatric model to examine the clinical benefits, costs, and cost-effectiveness of replacing conventional assays for early infant HIV diagnosis with POC assays at age 6 weeks in Zimbabwe. Read More

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http://dx.doi.org/10.1016/S2352-3018(18)30328-XDOI Listing
February 2019

Co-shared genetics and possible risk gene pathway partially explain the comorbidity of schizophrenia, major depressive disorder, type 2 diabetes, and metabolic syndrome.

Am J Med Genet B Neuropsychiatr Genet 2019 Feb 6. Epub 2019 Feb 6.

Division of Endocrinology, Diabetes, and Metabolic Disease, Department of Medicine, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania.

Schizophrenia (SCZ) and major depressive disorder (MDD) in treatment-naive patients are associated with increased risk for type 2 diabetes (T2D) and metabolic syndrome (MetS). SCZ, MDD, T2D, and MetS are often comorbid and their comorbidity increases cardiovascular risk: Some risk genes are likely co-shared by them. For instance, transcription factor 7-like 2 (TCF7L2) and proteasome 26S subunit, non-ATPase 9 (PSMD9) are two genes independently reported as contributing to T2D and SCZ, and PSMD9 to MDD as well. Read More

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http://dx.doi.org/10.1002/ajmg.b.32712DOI Listing
February 2019
1 Read

The combined effect of physical activity and sedentary behavior on subclinical atherosclerosis: a cross-sectional study among Mexican Americans.

BMC Public Health 2019 Feb 6;19(1):161. Epub 2019 Feb 6.

Department of Health Promotion and Behavioral Sciences, The University of Texas Health Science Center at Houston School of Public Health, Brownsville Regional Campus, 1 W University Blvd, Brownsville, TX, 78520, USA.

Background: Physical activity and sedentary behavior are considered independent risk factors for chronic disease. However, we do not fully understand their interrelation with key health outcomes such as subclinical atherosclerosis. This study examines the combined effects of sedentary behavior and physical activity on carotid intima-media thickness (cIMT) and presence of carotid plaque in a Mexican American population on the Texas-Mexico border. Read More

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https://bmcpublichealth.biomedcentral.com/articles/10.1186/s
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http://dx.doi.org/10.1186/s12889-019-6439-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6366018PMC
February 2019
1 Read

Functional Biomolecule Delivery Systems and Bioengineering in Cartilage Regeneration.

Curr Pharm Biotechnol 2019 02 6. Epub 2019 Feb 6.

Department of Biomedical and Biotechnological Sciences, Human Anatomy and Histology Section, School of Medicine, University of Catania, Via S. Sofia n°87, Catania. Italy.

Osteoarthritis (OA) is a common degenerative disease which involves articular cartilage, and leads to total joint disability in the advanced stages. Due to its avascular and aneural nature, damaged cartilage cannot regenerate itself. Stem cell therapy and tissue engineering represent a promising route in OA therapy, in which cooperation of mesenchymal stem cells (MSCs) and three-dimensional (3D) scaffolds contribute to cartilage regeneration. Read More

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http://dx.doi.org/10.2174/1389201020666190206202048DOI Listing
February 2019
1 Read
2.511 Impact Factor

Engineering Biomimetic Materials for Skeletal Muscle Repair and Regeneration.

Adv Healthc Mater 2019 Feb 6:e1801168. Epub 2019 Feb 6.

Department of Cardiothoracic Surgery, Stanford University, Stanford, CA, 94305, USA.

Although skeletal muscle is highly regenerative following injury or disease, endogenous self-regeneration is severely impaired in conditions of volume traumatic muscle loss. Consequently, tissue engineering approaches are a promising means to regenerate skeletal muscle. Biological scaffolds serve as not only structural support for the promotion of cellular ingrowth but also impart potent modulatory signaling cues that may be beneficial for tissue regeneration. Read More

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http://dx.doi.org/10.1002/adhm.201801168DOI Listing
February 2019
3 Reads

Antibiotic Prophylaxis in the Management of Open Fractures: A Systematic Survey of Current Practice and Recommendations.

JBJS Rev 2019 Feb 5. Epub 2019 Feb 5.

Department of Health Research Methods, Evidence, and Impact (Y.C., M.B., R.K., S.S., L.J., M.W., R.A.C.S., and G.H.G.), Division of Orthopedic Surgery, Department of Surgery (M.B., B.P., and B.R.), School of Rehabilitation Science (A.N.), Department of Medicine (K.L.Z., R.D.M., and G.H.G.), Health Science Library (N.B.), Division of Vascular Surgery (F.N.N.), Department of Anesthesia (L.W.), and Michael G. DeGroote Institute for Pain Research and Care (L.W.), McMaster University, Hamilton, Ontario, Canada.

Background: Evidence with regard to antibiotic prophylaxis for patients with open fractures of the extremities is limited. We therefore conducted a systematic survey addressing current practice and recommendations.

Methods: We included publications from January 2007 to June 2017. Read More

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http://dx.doi.org/10.2106/JBJS.RVW.17.00197DOI Listing
February 2019

Variation of the prevalence of pediatric polypharmacy: A scoping review.

Pharmacoepidemiol Drug Saf 2019 Feb 6. Epub 2019 Feb 6.

Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.

Purpose: To examine the range of prevalence of pediatric polypharmacy in literature through a scoping review, focusing on factors that contribute to its heterogeneity in order to improve the design and reporting of quality improvement, pharmacovigilance, and research studies.

Methods: We searched Ovid Medline, PubMed, EMBASE, CINAHL, Ovid PsycINFO, Cochrane CENTRAL, and Web of Science Core Collection databases for studies with concepts of children and polypharmacy, along with a hand search of the bibliographies of six reviews and 30 included studies. We extracted information regarding study design, disease conditions, and prevalence of polypharmacy. Read More

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http://dx.doi.org/10.1002/pds.4719DOI Listing
February 2019
1 Read

Immuno-phenotypes of Pancreatic Ductal Adenocarcinoma: Meta-analysis of transcriptional subtypes.

Int J Cancer 2019 Feb 5. Epub 2019 Feb 5.

Department of Oncology, University of Oxford, Oxford, UK.

Pancreatic ductal adenocarcinoma (PDAC) is the most common malignancy of the pancreas and has one of the highest mortality rates of any cancer type with a 5-year survival rate of <5%. Recent studies of PDAC have provided several transcriptomic classifications based on separate analyses of individual patient cohorts. There is a need to provide a unified transcriptomic PDAC classification driven by therapeutically relevant biologic rationale to inform future treatment strategies. Read More

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http://dx.doi.org/10.1002/ijc.32186DOI Listing
February 2019

The Placental Transcriptome in Late Gestational Hypoxia Resulting in Murine Intrauterine Growth Restriction Parallels Increased Risk of Adult Cardiometabolic Disease.

Sci Rep 2019 Feb 4;9(1):1243. Epub 2019 Feb 4.

David Geffen School of Medicine at UCLA, Department of Pediatrics, Division of Neonatology & Developmental Biology, Neonatal Research Center of the UCLA Children's Discovery and Innovation Institute, 10833 Le Conte Avenue, MDCC B2-375, Los Angeles, CA, 90095, USA.

Intrauterine growth restriction (IUGR) enhances risk for adult onset cardiovascular disease (CVD). The mechanisms underlying IUGR are poorly understood, though inadequate blood flow and oxygen/nutrient provision are considered common endpoints. Based on evidence in humans linking IUGR to adult CVD, we hypothesized that in murine pregnancy, maternal late gestational hypoxia (LG-H) exposure resulting in IUGR would result in (1) placental transcriptome changes linked to risk for later CVD, and 2) adult phenotypes of CVD in the IUGR offspring. Read More

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http://dx.doi.org/10.1038/s41598-018-37627-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361888PMC
February 2019
2 Reads

Defining the impact of mutation accumulation on replicative lifespan in yeast using cancer-associated mutator phenotypes.

Proc Natl Acad Sci U S A 2019 Feb 4;116(8):3062-3071. Epub 2019 Feb 4.

Department of Pathology, University of Washington, Seattle, WA 98195-7705;

Mutations accumulate within somatic cells and have been proposed to contribute to aging. It is unclear what level of mutation burden may be required to consistently reduce cellular lifespan. Human cancers driven by a mutator phenotype represent an intriguing model to test this hypothesis, since they carry the highest mutation burdens of any human cell. Read More

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http://dx.doi.org/10.1073/pnas.1815966116DOI Listing
February 2019
1 Read

Low stress resilience in late adolescence and risk of smoking, high alcohol consumption and drug use later in life.

J Epidemiol Community Health 2019 Feb 4. Epub 2019 Feb 4.

Clinical Epidemiology and Biostatistics, School of Medical Sciences, Örebro University, Örebro, Sweden.

Background: While compromised stress resilience constitutes a recognised risk factor for somatic and psychiatric disease development in general, the knowledge about how individual variation in vulnerability to stress may specifically influence the long-term risks of disadvantageous health behaviours is limited.

Methods: In this Swedish cohort study, we aimed to investigate the association between stress resilience in late adolescence and adult use of addictive substances. We included 9381 men with information on psychological stress resilience measured during military conscription examinations, who later responded to an extensive health survey (mean age 34. Read More

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http://dx.doi.org/10.1136/jech-2018-211815DOI Listing
February 2019

An evolutionary approach to optimizing glucose-6-phosphatase-α enzymatic activity for gene therapy of glycogen storage disease type Ia.

J Inherit Metab Dis 2019 Feb 3. Epub 2019 Feb 3.

Section on Cellular Differentiation, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health.

Glycogen storage disease type-Ia (GSD-Ia), caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC), is characterized by impaired glucose homeostasis with a hallmark hypoglycemia, following a short fast. We have shown that G6pc-deficient (G6pc-/-) mice treated with recombinant adeno-associated virus (rAAV) vectors expressing either wild-type (WT) (rAAV-hG6PC-WT) or codon-optimized (co) (rAAV-co-hG6PC) human (h) G6Pase-α maintain glucose homeostasis if they restore ≥3% of normal hepatic G6Pase-α activity. The codon-optimized vector, which has a higher potency, is currently being used in a phase I/II clinical trial for human GSD-Ia (NCT 03517085). Read More

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http://dx.doi.org/10.1002/jimd.12069DOI Listing
February 2019
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"If I don't have children, they will know that I'm sick": fertility desires of women and men living with HIV in Iringa, Tanzania.

AIDS Care 2019 Feb 3:1-4. Epub 2019 Feb 3.

a Department of International Health , Johns Hopkins University , Baltimore , USA.

As safer conception services are expanded and integrated into HIV care systems, these services will need to address cultural, social, economic and medical concerns of women and men living with HIV. We conducted interviews with 30 HIV-positive women, 30 HIV-positive men, and 30 healthcare providers that examined factors specific to the experience of living with HIV that influence fertility desires in Iringa, Tanzania. HIV-related factors fell under five themes: knowing one could prevent mother-to-child transmission; reaching an ideal family size in the context of HIV-related infant mortality; concealing one's HIV status; being able to provide for children; and managing HIV disease progression. Read More

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http://dx.doi.org/10.1080/09540121.2019.1576844DOI Listing
February 2019

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.

Hum Mutat 2019 Feb 2. Epub 2019 Feb 2.

UCL Institute of Ophthalmology, University College London, London, United Kingdom.

The autosomal dominant progressive bifocal chorioretinal atrophy (PBCRA) disease locus has been mapped to chromosome 6q14-16.2 that overlaps the North Carolina macular dystrophy (NCMD) locus MCDR1. NCMD is a nonprogressive developmental macular dystrophy, in which variants upstream of PRDM13 have been implicated. Read More

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http://dx.doi.org/10.1002/humu.23715DOI Listing
February 2019
5.144 Impact Factor

The Trifecta of Benefits in Depression Care for Patients With Advanced Chronic Obstructive Pulmonary Disease.

Authors:
Gary J Kennedy

Am J Geriatr Psychiatry 2018 Dec 21. Epub 2018 Dec 21.

Department of Geriatric Psychiatry (GJK), Montefiore Medical Center, Bronx, NY. Electronic address:

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http://dx.doi.org/10.1016/j.jagp.2018.12.022DOI Listing
December 2018
1 Read

Weaning practices in phenylketonuria vary between health professionals in Europe.

Mol Genet Metab Rep 2019 Mar 25;18:39-44. Epub 2018 Nov 25.

Birmingham Women's and Children's Hospital, Birmingham, UK.

Background: In phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace natural protein from breast milk or standard infant formula with solids containing equivalent phenylalanine (Phe). In addition, a Phe-free second stage L-amino acid supplement is usually recommended from around 6 months to replace Phe-free infant formula. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2018.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349955PMC
March 2019
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Associations of sleep patterns with metabolic syndrome indices, body composition, and energy intake in children and adolescents.

Pediatr Obes 2019 Jan 31:e12507. Epub 2019 Jan 31.

Section on Growth and Obesity, Program in Endocrinology, Metabolism and Genetics, Division of Intramural Research Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Department of Health and Human Services (DHHS), Bethesda, MD, USA.

Background: Self-reported short sleep duration is associated with greater risk for metabolic syndrome (MetS), obesity, and higher energy intake (EI). However, studies of these associations in children using objective methods are sparse.

Objectives: The study aims to determine the associations for sleep patterns with MetS indices, body composition, and EI using objective measures in children. Read More

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http://dx.doi.org/10.1111/ijpo.12507DOI Listing
January 2019

Anillin regulates epithelial cell mechanics by structuring the medial-apical actomyosin network.

Elife 2019 Jan 31;8. Epub 2019 Jan 31.

Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, United States.

Cellular forces sculpt organisms during development, while misregulation of cellular mechanics can promote disease. Here, we investigate how the actomyosin scaffold protein Anillin contributes to epithelial mechanics in embryos. Increased mechanosensitive recruitment of Vinculin to cell-cell junctions when Anillin is overexpressed, suggested that Anillin promotes junctional tension. Read More

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http://dx.doi.org/10.7554/eLife.39065DOI Listing
January 2019

Designing and Assessing Multilevel Interventions to Improve Minority Health and Reduce Health Disparities.

Am J Public Health 2019 Jan;109(S1):S86-S93

Tanya Agurs-Collins is with the National Cancer Institute, National Institutes of Health (NIH), Rockville, MD. Susan Persky is with the Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD. Electra D. Paskett is with the Department of Internal Medicine, The Ohio State University, Columbus. Shari L. Barkin is with the Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN. Helen I. Meissner is with the Office of Disease Prevention, NIH, Bethesda. Tonja R. Nansel is with the Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda. Sonia S. Arteaga is with the Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, Bethesda. Xinzhi Zhang is with Clinical and Health Services Research, National Institute on Minority Health and Health Disparities (NIMHD), Bethesda. Rina Das is with the Division of Extramural Scientific Programs, NIMHD, Bethesda. Tilda Farhat is with the Office of Science Policy, Strategic Planning, Analysis, Reporting, and Data, NIMHD, Bethesda. Rina Das and Tilda Farhat are also Guest Editors for this supplement issue.

Multilevel interventions can be uniquely effective at addressing minority health and health disparities, but they pose substantial methodological, data analytic, and assessment challenges that must be considered when designing and applying interventions and assessment. To facilitate the adoption of multilevel interventions to reduce health disparities, we outline areas of need in filling existing operational challenges to the design and assessment of multilevel interventions. We discuss areas of development that address overarching constructs inherent in multilevel interventions, with a particular focus on their application to minority health and health disparities. Read More

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http://dx.doi.org/10.2105/AJPH.2018.304730DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356127PMC
January 2019

Disruption of Timing: NeuroHIV Progression in the Post-cART Era.

Sci Rep 2019 Jan 29;9(1):827. Epub 2019 Jan 29.

Program in Behavioral Neuroscience, Department of Psychology, Barnwell College, 1512 Pendleton Street, University of South Carolina, Columbia, SC, 29208, USA.

The marked increase in life expectancy for HIV-1 seropositive individuals, following the great success of combination antiretroviral therapy (cART), heralds an examination of the progression of HIV-1 associated neurocognitive disorders (HAND). However, since the seminal call for animal models of HIV-1/AIDS in 1988, there has been no extant in vivo animal model system available to provide a truly longitudinal study of HAND. Here, we demonstrate that the HIV-1 transgenic (Tg) rat, resembling HIV-1 seropositive individuals on lifelong cART, exhibits age-related, progressive neurocognitive impairments (NCI), including alterations in learning, sustained attention, flexibility, and inhibition; deficits commonly observed in HIV-1 seropositive individuals. Read More

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http://www.nature.com/articles/s41598-018-36822-1
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http://dx.doi.org/10.1038/s41598-018-36822-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351586PMC
January 2019
4 Reads

Patients' Perceptions of Proton Pump Inhibitor Risks and Attempts at Discontinuation: A National Survey.

Am J Gastroenterol 2019 Feb;114(2):244-249

Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan.

Objectives: Little is known about how reports on the adverse effects of proton pump inhibitors (PPIs) impact patients' perceptions of these drugs and medication use. We sought to determine patients' level of concern about PPI adverse effects and its association with attempts to discontinue these drugs.

Methods: This study is an online survey of US adults who use PPIs for gastroesophageal reflux disease. Read More

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http://dx.doi.org/10.14309/ajg.0000000000000061DOI Listing
February 2019
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Pathways linking caesarean delivery to early health in a dual burden context: Immune development and the gut microbiome in infants and children from Galápagos, Ecuador.

Am J Hum Biol 2019 Jan 28:e23219. Epub 2019 Jan 28.

Department of Anthropology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

Objectives: Global increases in caesarean deliveries are exposing more infants to perinatal environments that are evolutionarily novel and potentially increasing their risks for inflammatory conditions. Yet, the pathways linking caesareans to later health outcomes are not well understood, particularly in dual burden contexts. We test two of the hypothesized pathways, altered immune function and gut microbiota, which may link delivery mode to later health outcomes and test whether these associations persist when controlling for postnatal nutritional and pathogenic exposures. Read More

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http://dx.doi.org/10.1002/ajhb.23219DOI Listing
January 2019

Outcomes of endoscopic sinus surgery in adult lung transplant patients with cystic fibrosis.

Eur Arch Otorhinolaryngol 2019 Jan 28. Epub 2019 Jan 28.

Department of Surgery and Translational Medicine, Clinic of Otolaryngology, Head and Neck Surgery, Careggi University Hospital, University of Florence, Largo Brambilla, 3-50134, Florence, Italy.

Purpose: Cystic Fibrosis (CF) is the most common autosomal recessive disease in Caucasian population. Due to its pathological mechanism, chronic rhino sinusitis (CRS) associated or not with nasal polyposis usually occurs in adults and affects close to one-half of all CF patients. The goal of our work was to evaluate the impact of Endoscopic Sinus Surgery (ESS) in the quality of life (QoL) of the CF patients and demonstrate an improvement of the functional outcomes in the patients underwent the surgical procedure rather than in the not treated ones, particulary in lung transplant patients. Read More

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http://link.springer.com/10.1007/s00405-019-05308-9
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http://dx.doi.org/10.1007/s00405-019-05308-9DOI Listing
January 2019
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Adjuvant therapeutic strategies for resectable pancreatic adenocarcinoma.

Ann Pancreat Cancer 2018 Aug 6;1. Epub 2018 Aug 6.

Department of Radiation Oncology, Rutgers Cancer Institute of New Jersey, Rutgers Robert Wood Johnson Medical School, Rutgers University, New Brunswick, NJ, USA.

Of all patients diagnosed with pancreatic adenocarcinoma, only 15-20% present with resectable disease. Despite curative-intent resection, the prognosis remains poor with the majority of patients recurring, prompting the need for adjuvant therapy. Historical data support the use of adjuvant 5-fluorouracil (5-FU) or gemcitabine, but recent data suggest either gemcitabine plus capecitabine or modified FOLFIRINOX can improve overall survival when compared to gemcitabine alone. Read More

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http://dx.doi.org/10.21037/apc.2018.07.05DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345263PMC