8,739 results match your criteria Kennedy Disease


Beyond Blood Smears-Qualification of the 18S rRNA as a Biomarker for Controlled Human Malaria Infections.

Am J Trop Med Hyg 2019 Apr 22. Epub 2019 Apr 22.

Department of Microbiology, University of Washington, Seattle, Washington.

18S rRNA is a biomarker that provides an alternative to thick blood smears in controlled human malaria infection (CHMI) trials. We reviewed data from CHMI trials at non-endemic sites that used blood smears and 18S rRNA/rDNA biomarker nucleic acid tests (NATs) for time to positivity. We validated a multiplex quantitative reverse transcription-PCR (qRT-PCR) for 18S rRNA, prospectively compared blood smears and qRT-PCR for three trials, and modeled treatment effects at different biomarker-defined parasite densities to assess the impact on infection detection, symptom reduction, and measured intervention efficacy. Read More

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http://dx.doi.org/10.4269/ajtmh.19-0094DOI Listing

Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability.

NPJ Parkinsons Dis 2019 17;5. Epub 2019 Apr 17.

1Department of Neurodegenerative Disease, University College London (UCL) Institute of Neurology, London, UK.

Parkinson's disease (PD), with its characteristic loss of nigrostriatal dopaminergic neurons and deposition of α-synuclein in neurons, is often considered a neuronal disorder. However, in recent years substantial evidence has emerged to implicate glial cell types, such as astrocytes and microglia. In this study, we used stratified LD score regression and expression-weighted cell-type enrichment together with several brain-related and cell-type-specific genomic annotations to connect human genomic PD findings to specific brain cell types. Read More

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http://dx.doi.org/10.1038/s41531-019-0076-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6470136PMC

Mesenchymal Stem Cells Increase Alveolar Differentiation in Lung Progenitor Organoid Cultures.

Sci Rep 2019 Apr 23;9(1):6479. Epub 2019 Apr 23.

Department of Pediatrics, Division of Hematology/Oncology, Stem Cell Program; Boston Children's Hospital, Boston, MA, 02115, USA.

Lung epithelial cell damage and dysfunctional repair play a role in the development of lung disease. Effective repair likely requires the normal functioning of alveolar stem/progenitor cells. For example, we have shown in a mouse model of bronchopulmonary dysplasia (BPD) that mesenchymal stem cells (MSC) protect against hyperoxic lung injury at least in part by increasing the number of Epcam Sca-1 distal lung epithelial cells. Read More

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http://dx.doi.org/10.1038/s41598-019-42819-1DOI Listing

Trends and outcomes of red blood cell transfusion in patients undergoing transcatheter aortic valve replacement in the United States.

J Thorac Cardiovasc Surg 2019 Mar 28. Epub 2019 Mar 28.

The Warren Alpert Medical School of Brown University, Providence, RI; Lifespan Cardiovascular Institute, Providence, RI. Electronic address:

Objectives: To examine temporal trends, predictors, and outcomes of red blood cell (RBC) transfusion in patients undergoing transcatheter aortic valve replacement (TAVR) in the United States.

Methods: We used the National Inpatient Sample databases to identify TAVR procedures performed between January 2012 and September 2015 in the United States. Patients were propensity matched (within the strata of overt and no bleeding) on the likelihood of receiving RBC transfusion, and in-hospital outcomes were compared between the 2 groups in the matched cohort. Read More

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http://dx.doi.org/10.1016/j.jtcvs.2019.03.043DOI Listing

Brain Oxygen Extraction by Using MRI in Older Individuals: Relationship to Apolipoprotein E Genotype and Amyloid Burden.

Radiology 2019 Apr 23:182726. Epub 2019 Apr 23.

From the Department of Biomedical Engineering (Z.L., M.M., H.L.), The Russell H. Morgan Department of Radiology and Radiological Science (Z.L., S.S., K.O., J.J.P., H.L.), and Department of Neurology (A.S., C.P., A.M., M.A.), Johns Hopkins University School of Medicine, 600 N Wolfe St, Park 322, Baltimore, Md; Laboratory of Behavioral Neuroscience, National Institute on Aging, National Institutes of Health, Baltimore, Md (M.B.); and F. M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Research Institute, Baltimore, Md (H.L.).

Background Apolipoprotein E4 (APOE4) is a major genetic risk factor for late-onset Alzheimer disease. However, the mechanisms by which APOE4 affects the brain, underpinning this risk, have not been fully elucidated. Purpose To investigate the influence of APOE4 on global cerebral oxygen extraction fraction (OEF) and possible mediation through amyloid burden by using MRI-based brain oxygen extraction technique. Read More

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http://dx.doi.org/10.1148/radiol.2019182726DOI Listing

Genome-wide DNA copy number analysis and targeted transcriptional analysis of canine histiocytic malignancies identifies diagnostic signatures and highlights disruption of spindle assembly complex.

Chromosome Res 2019 Apr 23. Epub 2019 Apr 23.

Department of Molecular Biomedical Sciences, College of Veterinary Medicine, North Carolina State University, 1060 William Moore Drive, Raleigh, NC, 27607, USA.

Canine histiocytic malignancies (HM) are rare across the general dog population, but overrepresented in certain breeds, such as Bernese mountain dog and flat-coated retriever. Accurate diagnosis relies on immunohistochemical staining to rule out histologically similar cancers with different prognoses and treatment strategies (e.g. Read More

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http://dx.doi.org/10.1007/s10577-019-09606-0DOI Listing

Prepregnancy Habitual Intakes of Total, Supplemental, and Food Folate and Risk of Gestational Diabetes Mellitus: A Prospective Cohort Study.

Diabetes Care 2019 Apr 22. Epub 2019 Apr 22.

Epidemiology Branch, Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD

Objective: To identify novel modifiable risk factors of gestational diabetes mellitus (GDM) by examining the association between prepregnancy habitual folate intake and GDM risk.

Research Design And Methods: The study included 14,553 women in the Nurses' Health Study II who reported at least one singleton pregnancy between the 1991 and 2001 questionnaires. Prepregnancy intakes of total folate, supplemental folate, and food folate were assessed using a food frequency questionnaire administered every 4 years. Read More

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http://dx.doi.org/10.2337/dc18-2198DOI Listing

Efficacy of Fecal Microbiota Transplantation for Clostridium difficile Infection in Children.

Clin Gastroenterol Hepatol 2019 Apr 19. Epub 2019 Apr 19.

Boston Children's Hospital, Boston, MA. Electronic address:

Background & Aims: Fecal microbiota transplantation (FMT) is commonly used to treat Clostridium difficile infection (CDI). CDI is an increasing cause of diarrheal illness in pediatric patients, but the effects of FMT have not been well studied in children. We performed a multi-center retrospective cohort study of pediatric and young adult patients to evaluate the efficacy, safety, and factors associated with a successful FMT for the treatment of CDI. Read More

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http://dx.doi.org/10.1016/j.cgh.2019.04.037DOI Listing

A multicentre longitudinal study of flortaucipir (18F) in normal ageing, mild cognitive impairment and Alzheimer's disease dementia.

Brain 2019 Apr 22. Epub 2019 Apr 22.

Avid Radiopharmaceuticals, Philadelphia, PA, USA.

The advent of tau-targeted PET tracers such as flortaucipir (18F) (flortaucipir, also known as 18F-AV-1451 or 18F-T807) have made it possible to investigate the sequence of development of tau in relationship to age, amyloid-β, and to the development of cognitive impairment due to Alzheimer's disease. Here we report a multicentre longitudinal evaluation of the relationships between baseline tau, tau change and cognitive change, using flortaucipir PET imaging. A total of 202 participants 50 years old or older, including 57 cognitively normal subjects, 97 clinically defined mild cognitive impairment and 48 possible or probable Alzheimer's disease dementia patients, received flortaucipir PET scans of 20 min in duration beginning 80 min after intravenous administration of 370 MBq flortaucipir (18F). Read More

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http://dx.doi.org/10.1093/brain/awz090DOI Listing

Aortic pulse wave velocity in children with Cushing syndrome: A window into a marker of early cardiovascular disease.

Endocrinol Diabetes Metab 2019 Apr 15;2(2):e00054. Epub 2019 Jan 15.

Section on Endocrinology and Genetics Eunice Kennedy Shriver National Institute of Child Health Bethesda Maryland.

Objective: To investigate early signs of cardiovascular arterial remodelling in paediatric patients with Cushing syndrome (CS) in comparison with normative values from healthy children.

Study Design: The metrics used to assess cardiac health were from thoracic aorta and carotid MRI. Scans were performed on 18 children with CS (mean: 12. Read More

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http://dx.doi.org/10.1002/edm2.54DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6458483PMC

A Prospective Study of Gestational Diabetes and Fatty Liver Scores 9-16 Years After Pregnancy.

J Diabetes 2019 Apr 19. Epub 2019 Apr 19.

Epidemiology Branch, Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States.

Background: Women with gestational diabetes mellitus (GDM) may be at an increased risk for liver complications as chronic hyperglycemia is a risk factor for liver fat accumulation and potential liver dysfunction. Large prospective studies examining liver fat accumulation following a GDM pregnancy are lacking.

Methods: In the Diabetes & Women's Health (DWH) Study (2012-2014) we examined the association between GDM and subsequent fatty liver scores among 607 women with and 619 women without GDM in the Danish National Birth Cohort (DNBC). Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/1753-0407.12
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http://dx.doi.org/10.1111/1753-0407.12934DOI Listing
April 2019
1 Read

Efficacy and safety of namilumab, a human monoclonal antibody against granulocyte-macrophage colony-stimulating factor (GM-CSF) ligand in patients with rheumatoid arthritis (RA) with either an inadequate response to background methotrexate therapy or an inadequate response or intolerance to an anti-TNF (tumour necrosis factor) biologic therapy: a randomized, controlled trial.

Arthritis Res Ther 2019 Apr 18;21(1):101. Epub 2019 Apr 18.

Takeda Development Centre, London, UK.

Background: Namilumab (AMG203), an immunoglobulin G1 monoclonal antibody that binds with high affinity to granulocyte-macrophage colony-stimulating factor (GM-CSF), was evaluated in a phase II randomized, double-blind, placebo-controlled study to investigate the efficacy and safety in patients with rheumatoid arthritis (RA) with an inadequate response to methotrexate (MTX-IR) or anti-tumour necrosis factor therapy (TNF-IR).

Methods: Subcutaneous namilumab (20, 80, or 150 mg) or placebo was administered at baseline and weeks 2, 6, and 10 in patients on stable background methotrexate therapy who were with MTX-IR or TNF-IR. Primary endpoint was mean change from baseline in the 28-joint Disease Activity Score, C-reactive protein version (DAS28-CRP) at week 12 comparing each of the three doses of namilumab to placebo. Read More

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http://dx.doi.org/10.1186/s13075-019-1879-xDOI Listing

NAV-KIDS trial: protocol for a multi-centre, staggered randomised controlled trial of a patient navigator intervention in children with chronic kidney disease.

BMC Nephrol 2019 Apr 18;20(1):134. Epub 2019 Apr 18.

Centre for Kidney Research at The Children's Hospital at Westmead, Westmead, New South Wales, Australia.

Background: Chronic kidney disease (CKD) is a devastating illness associated with increased mortality, reduced quality of life, impaired growth, neurocognitive impairment and psychosocial maladjustment in children. There is growing evidence of socioeconomic disparities in health outcomes among children with CKD. Patient navigators are trained non-medical personnel who assist patients with chronic conditions journey through the continuum of care and transit across different care settings. Read More

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https://bmcnephrol.biomedcentral.com/articles/10.1186/s12882
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http://dx.doi.org/10.1186/s12882-019-1325-yDOI Listing
April 2019
2 Reads

Effect of preconception low dose aspirin on pregnancy and live birth according to socioeconomic status: A secondary analysis of a randomized clinical trial.

PLoS One 2019 18;14(4):e0200533. Epub 2019 Apr 18.

Epidemiology Branch, Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States of America.

Low socioeconomic status (SES) is associated with adverse pregnancy outcomes and infertility. Low-dose aspirin (LDA) was shown to improve livebirth rates in certain subsets of women, and therefore, may impact pregnancy rates differentially by SES status. Therefore, the aim of the current study was to examine whether daily preconception-initiated LDA affects rates of pregnancy, livebirth, and pregnancy loss differently across strata of socioeconomic status (SES). Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0200533PLOS
April 2019
3 Reads

Effect of high polyphenol extra virgin olive oil on markers of cardiovascular disease risk in healthy Australian adults (OLIVAUS): A protocol for a double-blind randomised, controlled, cross-over study.

Nutr Diet 2019 Apr 17. Epub 2019 Apr 17.

Department of Dietetics, Nutrition and Sport, School of Allied Health, Human Services and Sport, College of Science, Melbourne, Victoria, Australia.

Background: Previous clinical studies have suggested that high polyphenol extra virgin olive oil (EVOO) provides a superior cardioprotective effect compared to low polyphenol olive oil. However, further studies are required to replicate these results in non-Mediterranean populations.

Aim: To investigate the effect of high polyphenol EVOO versus low polyphenol olive oil with known polyphenol composition on markers of cardiovascular disease risk in a healthy non-Mediterranean cohort. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/1747-0080.12
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http://dx.doi.org/10.1111/1747-0080.12531DOI Listing
April 2019
2 Reads

Blood Lead Levels Among Resettled Refugee Children in Select US States, 2010-2014.

Pediatrics 2019 Apr 17. Epub 2019 Apr 17.

Immigrant, Refugee, and Migrant Health Branch, Division of Global Migration and Quarantine, Centers for Disease Control and Prevention, Atlanta, Georgia.

Background: Elevated blood lead levels (EBLLs; ≥5 µg/dL) are more prevalent among refugee children resettled in the United States than the general US population and contribute to permanent health and neurodevelopmental problems. The Centers for Disease Control and Prevention recommends screening of refugee children aged 6 months to 16 years on arrival in the United States and retesting those aged 6 months to 6 years between 3- and 6-months postarrival.

Methods: We analyzed EBLL prevalence among refugee children aged 6 months to 16 years who received a domestic refugee medical examination between January 1, 2010 and September 30, 2014. Read More

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http://dx.doi.org/10.1542/peds.2018-2591DOI Listing
April 2019
5.473 Impact Factor

Cytokine Networks in the Pathophysiology of Inflammatory Bowel Disease.

Immunity 2019 Apr;50(4):992-1006

Kennedy Institute of Rheumatology, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Roosevelt Drive, Oxford OX3 7FY, UK; Translational Gastroenterology Unit, Experimental Medicine Division, Nuffield Department of Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

Inflammatory bowel disease (IBD) is a chronic inflammatory disease of the gastrointestinal tract. Cytokine-targeted therapies have transformed the treatment of IBD, providing control of symptoms and longer relapse-free periods. However, many patients fail to respond, highlighting the need for therapies tailored to the underlying cell and molecular disease drivers. Read More

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http://dx.doi.org/10.1016/j.immuni.2019.03.017DOI Listing
April 2019
20 Reads

The Diagnosis of Bronchopulmonary Dysplasia in Very Preterm Infants: An Evidence-Based Approach.

Am J Respir Crit Care Med 2019 Apr 17. Epub 2019 Apr 17.

Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Division of Neonatology, Philadelphia, Pennsylvania, United States.

Rationale: Current diagnostic criteria for bronchopulmonary dysplasia rely heavily on the level and duration of oxygen therapy, do not reflect contemporary neonatal care, nor adequately predict childhood morbidity.

Objective: To determine which of 18 pre-specified, revised definitions of bronchopulmonary dysplasia, that variably define disease presence and severity according to the level of respiratory support and supplemental oxygen administered at 36 weeks postmenstrual age, best predicts death or serious respiratory morbidity through 18-26 months corrected age.

Methods: We assessed infants born <32 weeks' gestation between 2011-2015 at 18 centers of the National Institute of Child Health and Human Development Neonatal Research Network. Read More

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https://www.atsjournals.org/doi/10.1164/rccm.201812-2348OC
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http://dx.doi.org/10.1164/rccm.201812-2348OCDOI Listing
April 2019
4 Reads

How to Get the Most from Methotrexate (MTX) Treatment for Your Rheumatoid Arthritis Patient?-MTX in the Treat-to-Target Strategy.

J Clin Med 2019 Apr 15;8(4). Epub 2019 Apr 15.

Division of Rheumatology, Medical University Department, Kantonsspital Aarau, 5001 Aarau, Switzerland.

Methotrexate (MTX) is a remarkable drug with a key role in the management of rheumatoid arthritis (RA) at every stage of its evolution. Its attributes include good overall efficacy for signs and symptoms, inhibition of structural damage and preservation of function with acceptable and manageable safety, a large dose-titratable range, options for either an oral or parenteral route of administration, and currently unrivalled cost-effectiveness. It has a place as a monotherapy and also as an anchor drug that can be safely used in combination with other conventional synthetic disease-modifying antirheumatic drugs (csDMARDs) or used concomitantly with biological DMARDs or targeted synthetic DMARDs. Read More

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http://dx.doi.org/10.3390/jcm8040515DOI Listing
April 2019
1 Read

Preclinical insights into cholangiopathies: disease modeling and emerging therapeutic targets.

Expert Opin Ther Targets 2019 Apr 16:1-12. Epub 2019 Apr 16.

a Indiana Center for Liver Research, Division of Gastroenterology & Hepatology, Department of Medicine , Indiana University School of Medicine , Indianapolis , IN , USA.

Introduction: The common predominant clinical features of cholangiopathies such as primary sclerosing cholangitis (PSC), primary biliary cholangitis (PBC), and biliary atresia (BA) are biliary damage/senescence and liver fibrosis. Curative therapies are lacking, and liver transplantation is the only option. An understanding of the mechanisms and pathogenesis is needed to develop novel therapies. Read More

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http://dx.doi.org/10.1080/14728222.2019.1608950DOI Listing
April 2019
5 Reads

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.

Authors:
Manuel A Ferreira Eric R Gamazon Fares Al-Ejeh Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Adalgeir Arason Volker Arndt Kristan J Aronson Banu K Arun Ella Asseryanis Jacopo Azzollini Judith Balmaña Daniel R Barnes Daniel Barrowdale Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Katarzyna Białkowska Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Ake Borg Hiltrud Brauch Hermann Brenner Annegien Broeks Barbara Burwinkel Trinidad Caldés Maria A Caligo Daniele Campa Ian Campbell Federico Canzian Jonathan Carter Brian D Carter Jose E Castelao Jenny Chang-Claude Stephen J Chanock Hans Christiansen Wendy K Chung Kathleen B M Claes Christine L Clarke Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Miguel de la Hoya Joe Dennis Peter Devilee Orland Diez Thilo Dörk Alison M Dunning Miriam Dwek Diana M Eccles Bent Ejlertsen Carolina Ellberg Christoph Engel Mikael Eriksson Peter A Fasching Olivia Fletcher Henrik Flyger Eitan Friedman Debra Frost Marike Gabrielson Manuela Gago-Dominguez Patricia A Ganz Susan M Gapstur Judy Garber Montserrat García-Closas José A García-Sáenz Mia M Gaudet Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Jacek Gronwald Pascal Guénel Christopher A Haiman Per Hall Ute Hamann Wei He Jane Heyworth Frans B L Hogervorst Antoinette Hollestelle Robert N Hoover John L Hopper Peter J Hulick Keith Humphreys Evgeny N Imyanitov Claudine Isaacs Milena Jakimovska Anna Jakubowska Paul A James Ramunas Janavicius Rachel C Jankowitz Esther M John Nichola Johnson Vijai Joseph Beth Y Karlan Elza Khusnutdinova Johanna I Kiiski Yon-Dschun Ko Michael E Jones Irene Konstantopoulou Vessela N Kristensen Yael Laitman Diether Lambrechts Conxi Lazaro Goska Leslie Jenny Lester Fabienne Lesueur Sara Lindström Jirong Long Jennifer T Loud Jan Lubiński Enes Makalic Arto Mannermaa Mehdi Manoochehri Sara Margolin Tabea Maurer Dimitrios Mavroudis Lesley McGuffog Alfons Meindl Usha Menon Kyriaki Michailidou Austin Miller Marco Montagna Fernando Moreno Lidia Moserle Anna Marie Mulligan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Ines Nevelsteen Finn C Nielsen Liene Nikitina-Zake Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Håkan Olsson Ana Osorio Janos Papp Tjoung-Won Park-Simon Michael T Parsons Inge Sokilde Pedersen Ana Peixoto Paolo Peterlongo Paul D P Pharoah Dijana Plaseska-Karanfilska Bruce Poppe Nadege Presneau Paolo Radice Johanna Rantala Gad Rennert Harvey A Risch Emmanouil Saloustros Kristin Sanden Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Priyanka Sharma Xiao-Ou Shu Jacques Simard Christian F Singer Penny Soucy Melissa C Southey John J Spinelli Amanda B Spurdle Jennifer Stone Anthony J Swerdlow William J Tapper Jack A Taylor Manuel R Teixeira Mary Beth Terry Alex Teulé Mads Thomassen Kathrin Thöne Darcy L Thull Marc Tischkowitz Amanda E Toland Diana Torres Thérèse Truong Nadine Tung Celine M Vachon Christi J van Asperen Ans M W van den Ouweland Elizabeth J van Rensburg Ana Vega Alessandra Viel Qin Wang Barbara Wappenschmidt Jeffrey N Weitzel Camilla Wendt Robert Winqvist Xiaohong R Yang Drakoulis Yannoukakos Argyrios Ziogas Peter Kraft Antonis C Antoniou Wei Zheng Douglas F Easton Roger L Milne Jonathan Beesley Georgia Chenevix-Trench

Nat Commun 2019 Apr 15;10(1):1741. Epub 2019 Apr 15.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.

Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. Read More

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http://dx.doi.org/10.1038/s41467-018-08053-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465407PMC
April 2019
1 Read

Duration of Oxaliplatin-Containing Adjuvant Therapy for Stage III Colon Cancer: ASCO Clinical Practice Guideline.

J Clin Oncol 2019 Apr 15:JCO1900281. Epub 2019 Apr 15.

15 St Michael's Hospital, Toronto, Ontario, Canada.

Purpose: To develop recommendations for duration of adjuvant chemotherapy with a fluoropyrimidine and oxaliplatin for patients with completely resected stage III colon cancer based on the results of trials of 3 months compared with 6 months of treatment.

Methods: ASCO convened an Expert Panel and conducted a systematic review of relevant studies. The guideline recommendations were based on the review of evidence by the Expert Panel. Read More

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http://dx.doi.org/10.1200/JCO.19.00281DOI Listing

Cognitive Control as a 5-HT-Based Domain That Is Disrupted in Major Depressive Disorder.

Front Psychol 2019 29;10:691. Epub 2019 Mar 29.

The Molecular & Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI, United States.

Heterogeneity within Major Depressive Disorder (MDD) has hampered identification of biological markers (e.g., intermediate phenotypes, IPs) that might increase risk for the disorder or reflect closer links to the genes underlying the disease process. Read More

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https://www.frontiersin.org/article/10.3389/fpsyg.2019.00691
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http://dx.doi.org/10.3389/fpsyg.2019.00691DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450211PMC
March 2019
3 Reads

Sexual Partner Characteristics, Relationship Type, and HIV Risk Among a Community Venue-based Sample of Urban Adolescent and Young Adult Men Who Have Sex with Men.

Youth Soc 2019 Mar 20;51(2):219-246. Epub 2016 Sep 20.

Johns Hopkins Children's Center, Johns Hopkins University, Baltimore, MD.

Few studies have examined sexual partnerships and HIV risk in diverse samples of African American/black and Hispanic/Latino adolescent and young adult men who have sex with men (YMSM), a group that have a high burden of HIV in the U.S. A community-venue recruitment approach was used, which identified significant differences in HIV risk by sexual partner type among 1215 YMSM. Read More

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http://dx.doi.org/10.1177/0044118X16669259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6456077PMC

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.

Eur J Hum Genet 2019 Apr 12. Epub 2019 Apr 12.

Division of Newborn Medicine and Neonatal Genomics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.

Clinical exome sequencing (CES) is increasingly being utilized; however, a large proportion of patients remain undiagnosed, creating a need for a systematic approach to increase the diagnostic yield. We have reanalyzed CES data for a clinically heterogeneous cohort of 102 probands with likely Mendelian conditions, including 74 negative cases and 28 cases with candidate variants, but reanalysis requested by clinicians. Reanalysis was performed by an interdisciplinary team using a validated custom-built pipeline, "Variant Explorer Pipeline" (VExP). Read More

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http://dx.doi.org/10.1038/s41431-019-0401-xDOI Listing

Pathway centrality in protein interaction networks identifies putative functional mediating pathways in pulmonary disease.

Sci Rep 2019 Apr 10;9(1):5863. Epub 2019 Apr 10.

Department of Computer Science, Tufts University, Medford, MA, 02155, USA.

Identification of functional pathways mediating molecular responses may lead to better understanding of disease processes and suggest new therapeutic approaches. We introduce a method to detect such mediating functions using topological properties of protein-protein interaction networks. We define the concept of pathway centrality, a measure of communication between disease genes and differentially expressed genes. Read More

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http://dx.doi.org/10.1038/s41598-019-42299-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6458310PMC
April 2019
1 Read

A cost-effectiveness analysis of denosumab for the prevention of skeletal-related events in patients with multiple myeloma in four European countries: Austria, Belgium, Greece, and Italy.

J Med Econ 2019 Apr 10. Epub 2019 Apr 10.

e Department of Internal Medicine V , Innsbruck University Hospital , Innsbruck , Austria , and Oncotyrol, Center for Personalized Cancer Medicine , Innsbruck , Austria.

Aim: The approved indication for denosumab (120 mg) was expanded in 2018 to include skeletal-related event (SRE) prevention in patients with multiple myeloma (MM). Therefore, we conducted a cost-effectiveness analysis comparing denosumab with zoledronic acid (ZA) for SRE prevention in patients with MM from the national healthcare system perspective in a representative sample of European countries: Austria, Belgium, Greece, and Italy.

Methods: The XGEVA global economic model for patients with MM was used to calculate incremental cost-effectiveness ratios (ICERs) for denosumab versus ZA over a lifetime horizon. Read More

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http://dx.doi.org/10.1080/13696998.2019.1606002DOI Listing
April 2019
3 Reads

Striatal Cholesterol Precursors Are Altered with Age in Female Huntington's Disease Model Mice.

J Huntingtons Dis 2019 Apr 3. Epub 2019 Apr 3.

Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.

Background: Cholesterol is necessary for proper neurodevelopment and neuronal health. The brain relies on neural and astrocytic de novo cholesterol synthesis. Huntington's disease presents with altered levels of cholesterol precursors however it is unknown when the disruption in this molecular pathway occurs and whether Manganese (Mn) may alter these metabolic alterations. Read More

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http://dx.doi.org/10.3233/JHD-180321DOI Listing

Mifepristone Extends Both Length and Quality of Life in a Patient With Advanced Non-small Cell Lung Cancer that Has Progressed Despite Chemotherapy and a Check-point Inhibitor.

Anticancer Res 2019 Apr;39(4):1923-1926

Kennedy Medical Campus, Sewell, NJ, U.S.A.

Case Report: Case 1 of an investigator-initiated study using oral single agent mifepristone to halt stage IV non-small cell lung cancer whose tumor was devoid of any targeted markers has remained ECOG zero and in good health for over 3 years. Case 2, reported here, is a 68-year-old woman with stage IV non-small cell lung cancer whose tumor was positive for the programmed death ligand-1 (PD-L1) marker. Her cancer progressed despite treatment with a check-point inhibitor (nivolumab), besides 3 rounds of multi-agent chemotherapy. Read More

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http://ar.iiarjournals.org/lookup/doi/10.21873/anticanres.13
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http://dx.doi.org/10.21873/anticanres.13301DOI Listing
April 2019
4 Reads

Integrins and Their Role in Immune Cell Adhesion.

Authors:
Michael L Dustin

Cell 2019 Apr 2;177(3):499-501. Epub 2019 Apr 2.

Kennedy Institute of Rheumatology, NDORMS, The University of Oxford, Oxfordshire OX3 7FY, UK. Electronic address:

One of the 2019 Canada Gairdner International Awards recognizes Timothy Springer's discovery of the first immune system adhesion molecules involved in lymphocyte homing and the translation of those discoveries into therapeutics for autoimmune disease and cancer. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00928674193033
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http://dx.doi.org/10.1016/j.cell.2019.03.038DOI Listing
April 2019
3 Reads

Long-Term Safety and Efficacy of Dolutegravir in Treatment-Experienced Adolescents With Human Immunodeficiency Virus Infection: Results of the IMPAACT P1093 Study.

J Pediatric Infect Dis Soc 2019 Apr 5. Epub 2019 Apr 5.

Jacobi Medical Center, Albert Einstein College of Medicine, Bronx, New York.

Background: P1093 is an ongoing phase I/II multicenter open-label study of dolutegravir plus an optimized background regimen in age-defined pediatric cohorts; here we report the long-term safety and virologic efficacy outcomes for the oldest cohort.

Methods: The study enrolled human immunodeficiency virus type 1 (HIV-1)-infected treatment-experienced adolescents aged 12 to <18 years, with an HIV-1 RNA level ≥1000 copies/mL . Cumulative safety and HIV-1 RNA outcomes were assessed once the last enrolled participant reached 144 weeks of follow-up. Read More

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https://academic.oup.com/jpids/advance-article/doi/10.1093/j
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http://dx.doi.org/10.1093/jpids/piy139DOI Listing
April 2019
8 Reads

Use of a molecular classifier to identify usual interstitial pneumonia in conventional transbronchial lung biopsy samples: a prospective validation study.

Lancet Respir Med 2019 Apr 1. Epub 2019 Apr 1.

Department of Medicine, Weill Cornell Medical Center, New York, NY, USA.

Background: In the appropriate clinical setting, the diagnosis of idiopathic pulmonary fibrosis (IPF) requires a pattern of usual interstitial pneumonia to be present on high-resolution chest CT (HRCT) or surgical lung biopsy. A molecular usual interstitial pneumonia signature can be identified by a machine learning algorithm in less-invasive transbronchial lung biopsy samples. We report prospective findings for the clinical validity and utility of this molecular test. Read More

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http://dx.doi.org/10.1016/S2213-2600(19)30059-1DOI Listing
April 2019
6 Reads

Shared genetic underpinnings of childhood obesity and adult cardiometabolic diseases.

Hum Genomics 2019 Apr 4;13(1):17. Epub 2019 Apr 4.

Laboratorio de Endocrinologia Molecular, Hospital Juárez de México, Mexico City, Mexico.

Background: Obesity during childhood can lead to increased risk of adverse cardiometabolic diseases such as type 2 diabetes and coronary artery disease during adult life. Evidence for strong genetic correlations between child and adult body mass index (BMI) suggest the possibility of shared genetic effects. We performed a test for pleiotropy (shared genetics) and functional enrichment of single nucleotide polymorphisms (SNPs) associated with childhood BMI and 15 adult cardiometabolic traits using a unified statistical approach that integrates pleiotropy and functional annotation data. Read More

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http://dx.doi.org/10.1186/s40246-019-0202-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449964PMC
April 2019
1 Read

Surgical Management of Primary Bone Lymphoma of the Hip: A Case Report and Review of the Literature.

Case Rep Orthop 2019 3;2019:3174768. Epub 2019 Mar 3.

Department of Haematology, Altnagelvin Area Hospital, Glenshane Road, Londonderry, Co. Londonderry, Ireland.

Introduction: Primary bone lymphoma (PBL) is a rare bone malignancy which may present with atraumatic pain, swelling, or pathological fracture. Whilst the femur is the most commonly affected site, any bone may be involved. PBL should be distinguished from other bone lesions to determine clinical management. Read More

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http://dx.doi.org/10.1155/2019/3174768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421802PMC
March 2019
4 Reads

Exceptional responders with invasive mucinous adenocarcinomas: a phase 2 trial of bortezomib in patients with G12D-mutant lung cancers.

Cold Spring Harb Mol Case Stud 2019 Apr 1;5(2). Epub 2019 Apr 1.

Thoracic Oncology Service, Division of Solid Tumor Oncology, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.

G12D-mutant/p53-deficient non-small-cell lung cancer (NSCLC) models are dependent on the NF-κB pathway that can be down-regulated by the proteasome inhibitor bortezomib. Two exceptional responders were observed on prior clinical trials of bortezomib, both of whom had G12D-mutant NSCLC, prompting the initiation of this single-center phase 2 trial. Patients with advanced G12D-mutant NSCLC were eligible. Read More

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http://dx.doi.org/10.1101/mcs.a003665DOI Listing
April 2019
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Evolution of Anemia Types During Antiretroviral Therapy-Implications for Treatment Outcomes and Quality of Life Among HIV-Infected Adults.

Nutrients 2019 Mar 31;11(4). Epub 2019 Mar 31.

Departments of Global Health and Population, Nutrition and Epidemiology, Harvard T. H. Chan School of Public Health, Boston, MA 02115, USA.

This study examined whether the type of anemia in persons living with HIV/AIDS (PLWHA) changed from the beginning of highly antiretroviral therapy (HAART) and had implications for treatment outcomes and quality of life (QOL). If present, the anemia-type was defined as microcytic, macrocytic or anemia of chronic disease (ACD) at study months 0, 6, 12, and 18. Multinomial logistic regression quantified sociodemographic and HIV-treatment factors associated with incident microcytic anemia or ACD over 18 months. Read More

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http://dx.doi.org/10.3390/nu11040755DOI Listing
March 2019
3 Reads

Quality of Life and Impact of Endoscopic Sinus Surgery in Adult Patients With Cystic Fibrosis.

Am J Rhinol Allergy 2019 Apr 1:1945892419839260. Epub 2019 Apr 1.

1 Clinic of Otolaryngology, Head and Neck Surgery, Department of Surgery and Translational Medicine, Careggi University Hospital, Florence, Italy.

Background: 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 undergoing the surgical procedure rather than in the not treated ones. Read More

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http://dx.doi.org/10.1177/1945892419839260DOI Listing
April 2019
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Genetic Overlap Between Alzheimer's Disease and Bipolar Disorder Implicates the MARK2 and VAC14 Genes.

Front Neurosci 2019 13;13:220. Epub 2019 Mar 13.

Norwegian Centre for Mental Disorders Research, KG Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.

Alzheimer's disease (AD) and bipolar disorder (BIP) are complex traits influenced by numerous common genetic variants, most of which remain to be detected. Clinical and epidemiological evidence suggest that AD and BIP are related. However, it is not established if this relation is of genetic origin. Read More

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http://dx.doi.org/10.3389/fnins.2019.00220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425305PMC
March 2019
4 Reads

The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution.

Dev Cell 2019 Apr 28;49(1):10-29. Epub 2019 Mar 28.

Department of Biomedical Informatics, University of Cincinnati College of Medicine, and Cincinnati Children's Hospital Medical Center, Division of Biomedical Informatics, Cincinnati, OH 45229, USA.

Single-cell gene expression analyses of mammalian tissues have uncovered profound stage-specific molecular regulatory phenomena that have changed the understanding of unique cell types and signaling pathways critical for lineage determination, morphogenesis, and growth. We discuss here the case for a Pediatric Cell Atlas as part of the Human Cell Atlas consortium to provide single-cell profiles and spatial characterization of gene expression across human tissues and organs. Such data will complement adult and developmentally focused HCA projects to provide a rich cytogenomic framework for understanding not only pediatric health and disease but also environmental and genetic impacts across the human lifespan. Read More

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http://dx.doi.org/10.1016/j.devcel.2019.03.001DOI Listing
April 2019
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The Role of Pharmacy Refill Measures in Assessing Adherence and Predicting HIV Disease Markers in Youth with Perinatally-Acquired HIV (PHIV).

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

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http://dx.doi.org/10.1007/s10461-019-02468-xDOI Listing
March 2019
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Inferring HIV-1 transmission networks and sources of epidemic spread in Africa with deep-sequence phylogenetic analysis.

Nat Commun 2019 03 29;10(1):1411. Epub 2019 Mar 29.

Oxford Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, Nuffield Department of Medicine, Old Road Campus, University of Oxford, Oxford, OX3 7BN, UK.

To prevent new infections with human immunodeficiency virus type 1 (HIV-1) in sub-Saharan Africa, UNAIDS recommends targeting interventions to populations that are at high risk of acquiring and passing on the virus. Yet it is often unclear who and where these 'source' populations are. Here we demonstrate how viral deep-sequencing can be used to reconstruct HIV-1 transmission networks and to infer the direction of transmission in these networks. Read More

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http://dx.doi.org/10.1038/s41467-019-09139-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6441045PMC
March 2019
3 Reads

Maternal and Infant Bone Mineral Density 1 Year After Delivery in a Randomized, Controlled Trial of Maternal Tenofovir Disoproxil Fumarate to Prevent Mother-to-child Transmission of Hepatitis B Virus.

Clin Infect Dis 2019 Mar 29. Epub 2019 Mar 29.

Institut de Recherche pour le Développement (IRD)-PHPT, Chiang Mai University, Thailand.

In a randomized, double-blind, placebo-controlled trial of tenofovir disoproxil fumarate (TDF) use from 28 weeks gestational age to 2 months postpartum to prevent mother-to-child transmission of hepatitis B virus, there was no significant effect of maternal TDF use on maternal or infant bone mineral density 1 year after delivery/birth. Clinical Trials Registration. NCT01745822. Read More

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http://dx.doi.org/10.1093/cid/ciy982DOI Listing
March 2019
4 Reads

Brain MRI shows white matter sparing in Kennedy's disease and slow-progressing lower motor neuron disease.

Hum Brain Mapp 2019 Mar 28. Epub 2019 Mar 28.

Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy.

The extent of central nervous system involvement in Kennedy's disease (KD) relative to other motor neuron disease (MND) phenotypes still needs to be clarified. In this study, we investigated cortical and white matter (WM) MRI alterations in 25 patients with KD, compared with 24 healthy subjects, 25 patients with sporadic amyotrophic lateral sclerosis (ALS), and 35 cases with lower motor neuron-predominant disease (LMND). LMND patients were clinically differentiated into 24 fast and 11 slow progressors. Read More

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http://dx.doi.org/10.1002/hbm.24583DOI Listing
March 2019
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The Spectrum of Developmental Disability with Zika Exposure: What Is Known, What Is Unknown, and Implications for Clinicians.

J Dev Behav Pediatr 2019 Mar 26. Epub 2019 Mar 26.

Division of Human Development and Disability, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA.

Clinicians who treat children with neurodevelopmental disabilities may encounter infants with congenital Zika syndrome or those exposed to Zika virus (ZIKV), either in utero or postnatally, in their practice and may have questions about diagnosis, management, and prognosis. In this special report, we reviewed the current literature to provide a comprehensive understanding of the findings and needs of children exposed to ZIKV in utero and postnatally. The current literature is sparse, and thus, this review is preliminary. Read More

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http://dx.doi.org/10.1097/DBP.0000000000000665DOI Listing

Mobility in osteogenesis imperfecta: a multicenter North American study.

Genet Med 2019 Mar 28. Epub 2019 Mar 28.

Orthopaedic Rehabilitation and Engineering Center, Marquette University, Milwaukee, WI, USA.

Purpose: Osteogenesis imperfecta (OI) is a genetic connective tissue disorder that causes bone fragility. Phenotypic severity influences ability to walk, however, little is known about ambulatory characteristics of individuals with OI, especially in more severe forms. The purpose of this work was to characterize mobility in OI using standard clinical assessment tools and determine if patient characteristics could be used to predict mobility outcomes. Read More

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http://dx.doi.org/10.1038/s41436-019-0491-4DOI Listing
March 2019
2 Reads

Antecedents of epilepsy and seizures among children born at extremely low gestational age.

J Perinatol 2019 Mar 27. Epub 2019 Mar 27.

Department of Pediatrics, Division of Pediatric Neurology, Boston Medical Center and Boston University School of Medicine, Boston, MA, USA.

Objective: To identify specific risk factors for epilepsy for individuals born extremely preterm.

Study Design: In a prospective cohort study, at 10-year follow-up, children were classified as having epilepsy or seizures not associated with epilepsy. We evaluated for association of perinatal factors using time-oriented, multinomial logistic regression models. Read More

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http://dx.doi.org/10.1038/s41372-019-0355-4DOI Listing

Hypertension and diabetes control along the HIV care cascade in rural South Africa.

J Int AIDS Soc 2019 Mar;22(3):e25213

Department of Global Health & Population, Harvard T.H. Chan School of Public Health, Boston, MA, USA.

Introduction: Participation in antiretroviral therapy (ART) programmes has been associated with greater utilization of care for hypertension and diabetes in rural South Africa. The objective of this study was to assess whether people living with HIV on ART with comorbid hypertension or diabetes also have improved chronic disease management indicators.

Methods: The Health and Aging in Africa: a longitudinal study of an INDEPTH Community in South Africa (HAALSI) is a cohort of 5059 adults >40 years old. Read More

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http://dx.doi.org/10.1002/jia2.25213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6436499PMC
March 2019
1 Read

Sickle cell microvascular paradox-oxygen supply-demand mismatch.

Am J Hematol 2019 Mar 27. Epub 2019 Mar 27.

Division of Cardiology, Children's Hospital Los Angeles, University of Southern California Keck School of Medicine, Los Angeles, California.

We have previously demonstrated that sickle cell disease (SCD) patients maintain normal global systemic and cerebral oxygen delivery by increasing cardiac output. However, ischemic end-organ injury remains common suggesting that tissue oxygen delivery may be impaired by microvascular dysregulation or damage. To test this hypothesis, we performed fingertip laser Doppler flowmetry measurements at the base of the nailbed and regional oxygen saturation (rSO ) on the dorsal surface of the same hand. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajh.25476
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http://dx.doi.org/10.1002/ajh.25476DOI Listing
March 2019
3 Reads

The relationship of longitudinal cognitive change to self-reported IADL in a general population.

Neuropsychol Dev Cogn B Aging Neuropsychol Cogn 2019 Mar 27:1-15. Epub 2019 Mar 27.

b Department of Medicine , University of Alabama at Birmingham , Birmingham , AL , USA.

This study examined the relationship between cognitive change and instrumental activities of daily living (IADL) in a large, national, population-based sample. Cognitive change was assessed via verbal fluency, word list learning (WLL), and word list delayed recall (WLD). Incident cognitive impairment was defined by change in Six-Item Screener (SIS) status over a period of 10 years. Read More

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http://dx.doi.org/10.1080/13825585.2019.1597008DOI Listing

Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome.

Brain 2019 Mar 26. Epub 2019 Mar 26.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

Disruption of cellular iron homeostasis can contribute to neurodegeneration. In mammals, two iron-regulatory proteins (IRPs) shape the expression of the iron metabolism proteome. Targeted deletion of Ireb2 in a mouse model causes profoundly disordered iron metabolism, leading to functional iron deficiency, anemia, erythropoietic protoporphyria, and a neurodegenerative movement disorder. Read More

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http://dx.doi.org/10.1093/brain/awz072DOI Listing
March 2019
6 Reads