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https://www.readbyqxmd.com/read/28795506/oral-apolipoprotein-a-i-mimetic-d-4f-lowers-hdl-inflammatory-index-in-high-risk-patients-a-first-in-human-multiple-dose-randomized-controlled-trial
#1
Richard L Dunbar, Rajesh Movva, LeAnne T Bloedon, Danielle Duffy, Robert B Norris, Mohamad Navab, Alan M Fogelman, Daniel J Rader
A single dose of the apolipoprotein (apo)A-I mimetic peptide D-4F rendered high-density lipoprotein (HDL) less inflammatory, motivating the first multiple-dose study. We aimed to assess safety/tolerability, pharmacokinetics, and pharmacodynamics of daily, orally administered D-4F. High-risk coronary heart disease (CHD) subjects added double-blinded placebo or D-4F to statin for 13 days, randomly assigned 1:3 to ascending cohorts of 100, 300, then 500 mg (n = 62; 46 men/16 women). D-4F was safe and well-tolerated...
August 9, 2017: Clinical and Translational Science
https://www.readbyqxmd.com/read/28780536/long-term-treatment-with-leuprorelin-for-spinal-and-bulbar-muscular-atrophy-natural-history-controlled-study
#2
Atsushi Hashizume, Masahisa Katsuno, Keisuke Suzuki, Akihiro Hirakawa, Yasuhiro Hijikata, Shinichiro Yamada, Tomonori Inagaki, Haruhiko Banno, Gen Sobue
OBJECTIVE: To evaluate the prognosis and progression of spinal and bulbar muscular atrophy (SBMA), a rare X-linked motor neuron disorder caused by trinucleotide repeat expansion in the AR (androgen receptor) gene, after long-term androgen suppression with leuprorelin acetate treatment. METHODS: In the present natural history-controlled study, 36 patients with SBMA treated with leuprorelin acetate for up to 84 months (leuprorelin acetate-treated group; LT group) and 29 patients with SBMA with no specific treatment (non-treated group; NT group) were analysed...
August 5, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28758032/genotype-phenotype-characterization-of-novel-variants-in-six-italian-patients-with-familial-exudative-vitreoretinopathy
#3
Giancarlo Iarossi, Matteo Bertelli, Paolo Enrico Maltese, Elena Gusson, Giorgio Marchini, Alice Bruson, Sabrina Benedetti, Sabrina Volpetti, Gino Catena, Luca Buzzonetti, Lucia Ziccardi
Familial exudative vitreoretinopathy (FEVR) is a complex disorder characterized by incomplete development of the retinal vasculature. Here, we report the results obtained on the spectrum of genetic variations and correlated phenotypes found in a cohort of Italian FEVR patients. Eight probands (age range 7-19 years) were assessed by genetic analysis and comprehensive age-appropriate ophthalmic examination. Genetic testing investigated the genes most widely associated in literature with FEVR: FZD4, LRP5, TSPAN12, and NDP...
2017: Journal of Ophthalmology
https://www.readbyqxmd.com/read/28752601/progression-of-hepatitis-c-in-the-haemophiliac-population-in-ireland-after-30-years-of-infection-in-the-pre-daa-treatment-era
#4
Niamh Murphy, Brian O'Mahony, Paula Flanagan, Declan Noone, Barry White, Colm Bergin, Suzanne Norris, Lelia Thornton
INTRODUCTION: Prior to the introduction of viral inactivation of factor concentrates and screening of blood, 225 people with haemophilia became infected with hepatitis C (HCV) in Ireland. AIM: Our aim was to assess liver disease progression and mortality in this population after 30 years of infection. METHODS: Demographic and clinical data were collected from medical records in five hepatology units and one infectious disease unit retrospectively in 2005, and on four subsequent occasions...
July 27, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28742514/the-importance-of-biochemical-and-genetic-findings-in-the-diagnosis-of-atypical-norrie-disease
#5
Ana Rodríguez-Muñoz, Gema García-García, Francisco Menor, José M Millán, Miguel Tomás-Vila, Teresa Jaijo
BACKGROUND: Norrie disease (ND) is a rare X-linked disorder characterized by bilateral congenital blindness. ND is caused by a mutation in the Norrie disease pseudoglioma (NDP) gene, which encodes a 133-amino acid protein called norrin. Intragenic deletions including NDP and adjacent genes have been identified in ND patients with a more severe neurologic phenotype. We report the biochemical, molecular, clinical and radiological features of two unrelated affected males with a deletion including NDP and MAO genes...
July 25, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28728607/zika-virus-transmission-to-mouse-ear-by-mosquito-bite-a-laboratory-model-that-replicates-the-natural-transmission-process
#6
Nagila Francinete Costa Secundino, Barbara Aparecida Chaves, Alessandra Silva Orfano, Karine Renata Dias Silveira, Nilton Barnabe Rodrigues, Thais Bonifácio Campolina, Rafael Nacif-Pimenta, Luiz Eduardo Martinez Villegas, Breno Melo Silva, Marcus Vinícius Guimarães Lacerda, Douglas Eric Norris, Paulo Filemon Paolucci Pimenta
BACKGROUND: Zika disease has transformed into a serious global health problem due to the rapid spread of the arbovirus and alarming severity including congenital complications, microcephaly and Guillain-Barré syndrome. Zika virus (ZIKV) is primarily transmitted to humans through the bite of an infective mosquito, with Aedes aegypti being the main vector. METHODS: We successfully developed a ZIKV experimental transmission model by single infectious Ae. aegypti bite to a laboratory mouse using circulating Brazilian strains of both arbovirus and vector...
July 20, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/28718764/crispr-mediated-genetic-interaction-profiling-identifies-rna-binding-proteins-controlling-metazoan-fitness
#7
Adam D Norris, Xicotencatl Gracida, John A Calarco
Genetic interaction screens have aided our understanding of complex genetic traits, diseases, and biological pathways. However, approaches for synthetic genetic analysis with null-alleles in metazoans have not been feasible. Here, we present a CRISPR/Cas9-based Synthetic Genetic Interaction (CRISPR-SGI) approach enabling systematic double-mutant generation. Applying this technique in Caenorhabditis elegans, we comprehensively screened interactions within a set of 14 conserved RNA binding protein genes, generating all possible single and double mutants...
July 18, 2017: ELife
https://www.readbyqxmd.com/read/28715931/understanding-and-acting-on-the-developmental-origins-of-health-and-disease-in-africa-would-improve-health-across-generations
#8
Shane A Norris, Abdallah Daar, Dorairajan Balasubramanian, Peter Byass, Elizabeth Kimani-Murage, Andrew Macnab, Christoff Pauw, Atul Singhal, Chittaranjan Yajnik, James Akazili, Naomi Levitt, Jihene Maatoug, Nolwazi Mkhwanazi, Sophie E Moore, Moffat Nyirenda, Juliet R C Pulliam, Tamsen Rochat, Rihlat Said-Mohamed, Soraya Seedat, Eugene Sobngwi, Mark Tomlinson, Elona Toska, Cari van Schalkwyk
Data from many high- and low- or middle-income countries have linked exposures during key developmental periods (in particular pregnancy and infancy) to later health and disease. Africa faces substantial challenges with persisting infectious disease and now burgeoning non-communicable disease.This paper opens the debate to the value of strengthening the developmental origins of health and disease (DOHaD) research focus in Africa to tackle critical public health challenges across the life-course. We argue that the application of DOHaD science in Africa to advance life-course prevention programmes can aid the achievement of the Sustainable Development Goals, and assist in improving health across generations...
2017: Global Health Action
https://www.readbyqxmd.com/read/28706996/south-african-breast-cancer-and-hiv-outcomes-study-methods-and-baseline-assessment
#9
Herbert Cubasch, Paul Ruff, Maureen Joffe, Shane Norris, Tobias Chirwa, Sarah Nietz, Vinay Sharma, Raquel Duarte, Ines Buccimazza, Sharon Čačala, Laura W Stopforth, Wei-Yann Tsai, Eliezer Stavsky, Katherine D Crew, Judith S Jacobson, Alfred I Neugut
PURPOSE: In low- and middle-income, HIV-endemic regions of sub-Saharan Africa, morbidity and mortality from the common epithelial cancers of the developed world are rising. Even among HIV-infected individuals, access to antiretroviral therapy has enhanced life expectancy, shifting the distribution of cancer diagnoses toward non-AIDS-defining malignancies, including breast cancer. Building on our prior research, we recently initiated the South African Breast Cancer and HIV Outcomes study...
April 2017: Journal of Global Oncology
https://www.readbyqxmd.com/read/28663386/improved-akt-reporter-reveals-intra-and-inter-cellular-heterogeneity-and-oscillations-in-signal-transduction
#10
Dougall M Norris, Pengyi Yang, James R Krycer, Daniel J Fazakerley, David E James, James G Burchfield
Akt is a key node in a range of signal transduction cascades and plays a critical role in diseases such as cancer and diabetes. Fluorescently-tagged Akt reporters have been used to discern Akt localisation, yet it has not been clear how well these tools recapitulate the behaviour of endogenous Akt. Here we observed that fusion of eGFP to Akt impaired both insulin-stimulated plasma membrane recruitment and its phosphorylation. Endogenous-like responses were restored by replacing eGFP with TagRFP-T. The improved response magnitude and sensitivity afforded by TagRFP-T-Akt over eGFP-Akt enabled monitoring of signalling outcomes in single cells at physiological doses of insulin with subcellular resolution and revealed two previously unreported features of Akt biology...
June 29, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28661939/interactions-of-%C3%AE-amyloid-peptide-with-fibrinogen-and-coagulation-factor-xii-may-contribute-to-alzheimer-s-disease
#11
Hyung J Ahn, Zu-Lin Chen, Daria Zamolodchikov, Erin H Norris, Sidney Strickland
PURPOSE OF REVIEW: To review the evidence that the Alzheimer peptide β-amyloid interacts with the blood coagulation system and influences the pathophysiology of the disease. RECENT FINDINGS: β-amyloid can interact with fibrinogen and blood coagulation factor XII and trigger ischemia and inflammation. SUMMARY: β-amyloid interacts with fibrinogen and factor XII. These interactions can lead to increased clotting, abnormal clot formation, persistent fibrin deposition, and generation of proinflammatory molecules...
September 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28636638/outcomes-from-a-large-10-year-hepatitis-c-treatment-programme-in-people-who-inject-drugs-no-effect-of-recent-or-former-injecting-drug-use-on-treatment-adherence-or-therapeutic-response
#12
Omar Elsherif, Ciaran Bannan, Shay Keating, Susan McKiernan, Colm Bergin, Suzanne Norris
BACKGROUND AND AIMS: People who inject drugs (PWID) are historically viewed as having "difficult to treat" hepatitis C disease, with perceived inferior treatment adherence and outcomes, and concerns regarding reinfection risk. We evaluated for differences in treatment adherence and response to Peginterferon-alfa-2a/Ribavirin (Peg-IFNα/RBV) in a large urban cohort with and without a history of remote or recent injection drug use. METHODS: Patient data was retrospectively reviewed for 1000 consecutive patients-608 former (no injecting drug use for 6 months of therapy), 85 recent (injecting drug use within 6 months) PWID, and 307 non-drug users who were treated for chronic hepatitis C with Peg-IFNα/RBV...
2017: PloS One
https://www.readbyqxmd.com/read/28633388/sex-obesity-and-blood-pressure-among-african-american-adolescents-the-jackson-heart-kids-pilot-study
#13
Marino A Bruce, Bettina M Beech, Keith C Norris, Derek M Griffith, Mario Sims, Roland J Thorpe
BACKGROUND: This study examined the degree to which sex, weight status, and the presence of hypertension and obesity in parents/grandparents were associated with systolic (SBP) and diastolic (DBP) blood pressure (BP) among African American youth in a pilot offspring study examining obesity-related cardiovascular disease (CVD) risks among adolescents. RESULTS: Fully adjusted linear regression models of the total sample produced results indicating that obesity was associated with BP (SBP: β = 7...
June 15, 2017: American Journal of Hypertension
https://www.readbyqxmd.com/read/28623943/does-metabolic-syndrome-predict-surgical-complications-a-protocol-for-a-systematic-review-and-meta-analysis
#14
Philip Norris, Nicholas Ralph, Clint Moloney
BACKGROUND: Metabolic syndrome (MetS) is defined by an accumulation of risk factors that include cardiovascular disease, diabetes, chronic high blood pressure, obesity, and hypercholesterolaemia which results in an increased risk of developing serious chronic diseases. MetS is widespread as it is estimated to affect up to 30% of the global population. For people with MetS who undergo surgery, an emerging body of literature points to significantly poorer postoperative outcomes compared with non-affected populations...
June 17, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28602015/clinical-and-genetic-analysis-of-indian-patients-with-ndp-related-retinopathies
#15
Dhandayuthapani Sudha, Aparna Ganapathy, Puja Mohan, Ashraf U Mannan, Shuba Krishna, Srividya Neriyanuri, Meenakshi Swaminathan, Pukhraj Rishi, Subbulakshmi Chidambaram, Jayamuruga Pandian Arunachalam
PURPOSE: NDP-related retinopathies are a group of X-linked disorders characterized by degenerative and proliferative changes of the neuroretina, occasionally accompanied with varying degrees of mental retardation and sensorineural hearing loss. NDP is the predominant gene associated with NDP-related retinopathies. The purpose of this study was to report the clinical and genetic findings in three unrelated patients diagnosed with NDP-related retinopathies. METHODS: The patients underwent complete ophthalmic examination followed by genetic analyses...
June 10, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28594302/ectopic-orbital-meningioma-fact-or-fiction
#16
Lee Teak Tan, Christopher M Stewart, Fintan Sheerin, Brendan MacDonald, Priy Silva, Jonathan H Norris
Primary intraorbital ectopic meningiomas are rare and their existence remains controversial. We present a 30-year-old female with painless, non-axial proptosis and a palpable superomedial mass. The MRI demonstrated that the mass had no optic nerve sheath or sphenoid wing involvement and was initially reported to have no intracranial extension. The patient was initially thought to have an ectopic orbital meningioma. Subsequent multidisciplinary team (MDT) consultation and further specialist review of the MRI revealed a subtle dural tail connecting to an enhancing mass in the olfactory groove...
June 2017: Orbit
https://www.readbyqxmd.com/read/28592242/an-avirulent-burkholderia-pseudomallei-%C3%A2-purm-strain-with-atypical-type-b-lps-expansion-of-the-toolkit-for-biosafe-studies-of-melioidosis
#17
Michael H Norris, Md Siddiqur Rahman Khan, Herbert P Schweizer, Apichai Tuanyok
BACKGROUND: The work was undertaken to expand the tools available for researching Burkholderia pseudomallei (Bp), the etiological agent of the tropical disease melioidosis. Melioidosis has the potential to pose a severe threat to public health and safety. In the United States, Bp is listed as a Tier-1 select agent by the Centers for Disease Control and Prevention (CDC), thus requiring high levels of regulation and biosafety level 3 (BSL3) facilities for experimental manipulation of live organisms...
June 7, 2017: BMC Microbiology
https://www.readbyqxmd.com/read/28575130/long-term-consequences-of-developmental-vascular-defects-on-retinal-vessel-homeostasis-and-function-in-a-mouse-model-of-norrie-disease
#18
Susanne C Beck, Yuxi Feng, Vithiyanjali Sothilingam, Marina Garcia Garrido, Naoyuki Tanimoto, Niyazi Acar, Shenliang Shan, Britta Seebauer, Wolfgang Berger, Hans-Peter Hammes, Mathias W Seeliger
Loss of Norrin signalling due to mutations in the Norrie disease pseudoglioma gene causes severe vascular defects in the retina, leading to visual impairment and ultimately blindness. While the emphasis of experimental work so far was on the developmental period, we focus here on disease mechanisms that induce progression into severe adult disease. The goal of this study was the comprehensive analysis of the long-term effects of the absence of Norrin on vascular homeostasis and retinal function. In a mouse model of Norrie disease retinal vascular morphology and integrity were studied by means of in vivo angiography; the vascular constituents were assessed in detailed histological analyses using quantitative retinal morphometry...
2017: PloS One
https://www.readbyqxmd.com/read/28559377/calcineurin-nfat-signaling-in-activated-astrocytes-drives-network-hyperexcitability-in-a%C3%AE-bearing-mice
#19
Pradoldej Sompol, Jennifer L Furman, Melanie M Pleiss, Susan D Kraner, Irina A Artiushin, Seth R Batten, Jorge E Quintero, Linda A Simmerman, Tina L Beckett, Mark A Lovell, M Paul Murphy, Greg A Gerhardt, Christopher M Norris
Hyperexcitable neuronal networks are mechanistically linked to the pathologic and clinical features of Alzheimer's disease (AD). Astrocytes are a primary defense against hyperexcitability, but their functional phenotype during AD is poorly understood. Here, we found that activated astrocytes in the 5xFAD mouse model were strongly associated with proteolysis of the protein phosphatase calcineurin (CN) and the elevated expression of the CN-dependent transcription factor nuclear factor of activated T cells 4 (NFAT4)...
June 21, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28556366/a-role-for-primary-cilia-in-aortic-valve-development-and-disease
#20
Katelynn A Toomer, Diana Fulmer, Lilong Guo, Alex Drohan, Neal Peterson, Paige Swanson, Brittany Brooks, Rupak Mukherjee, Simon Body, Joshua H Lipschutz, Andy Wessels, Russell A Norris
BACKGROUND: Bicuspid aortic valve (BAV) disease is the most common congenital heart defect, affecting 0.5-1.2% of the population and causing significant morbidity and mortality. Only a few genes have been identified in pedigrees, and no single gene model explains BAV inheritance, thus supporting a complex genetic network of interacting genes. However, patients with rare syndromic diseases that stem from alterations in the structure and function of primary cilia ("ciliopathies") exhibit BAV as a frequent cardiovascular finding, suggesting primary cilia may factor broadly in disease etiology...
August 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
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