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norrie's disease

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https://www.readbyqxmd.com/read/28922694/a-novel-c-240_241insgg-mutation-in-ndp-gene-in-a-family-with-norrie-disease
#1
Monavvar Andarva, Javad Jamshidi, Hamid Ghaedi, Narsis Daftarian, Babak Emamalizadeh, Elham Alehabib, Shaghyegh Taghavi, Ramin Pouriran, Hossein Darvish
BACKGROUND: Norrie disease (ND) is a rare, X-linked recessive disorder with the main characteristic of early childhood blindness. The aim of the present study was to identify the genetic cause of the disease and the phenotypic characteristics of the patients in an Iranian family with four affected males with ND. METHODS: Norrie disease pseudoglioma (NDP) gene was sequenced and clinical examination was performed on patients. RESULTS: A GG dinucleotide insertion in exon 3 (c...
September 18, 2017: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/28886596/assessing-exposure-to-household-air-pollution-a-systematic-review-and-pooled-analysis-of-carbon-monoxide-as-a-surrogate-measure-of-particulate-matter
#2
REVIEW
Ellison Carter, Christina Norris, Kathie L Dionisio, Kalpana Balakrishnan, William Checkley, Maggie L Clark, Santu Ghosh, Darby W Jack, Patrick L Kinney, Julian D Marshall, Luke P Naeher, Jennifer L Peel, Sankar Sambandam, James J Schauer, Kirk R Smith, Blair J Wylie, Jill Baumgartner
BACKGROUND: Household air pollution from solid fuel burning is a leading contributor to disease burden globally. Fine particulate matter (PM2.5) is thought to be responsible for many of these health impacts. A co-pollutant, carbon monoxide (CO) has been widely used as a surrogate measure of PM2.5 in studies of household air pollution. OBJECTIVE: The goal was to evaluate the validity of exposure to CO as a surrogate of exposure to PM2.5 in studies of household air pollution and the consistency of the PM2...
July 28, 2017: Environmental Health Perspectives
https://www.readbyqxmd.com/read/28885643/current-practice-of-bhs-members-in-the-treatment-of-osteonecrosis-of-the-femoral-head-in-adults
#3
Henry B Colaço, Jerome A Davidson, Dominic Davenport, Mark C Norris, Marcus J K Bankes, Zameer Shah
INTRODUCTION: The management of osteonecrosis (ON) of the femoral head remains controversial. It is unclear the extent to which non-arthroplasty procedures are used and there has been no previous report of the trends in operative management of ON in the UK. Our objective is to report current trends in management of ON of the femoral head amongst specialist hip surgeons in the UK. METHODS: A single-stage internet-based survey was e-mailed to 352 eligible members of the British Hip Society (BHS)...
September 5, 2017: Hip International: the Journal of Clinical and Experimental Research on Hip Pathology and Therapy
https://www.readbyqxmd.com/read/28878046/nonlinear-temporal-dynamics-of-cerebral-small-vessel-disease-the-run-dmc-study
#4
Esther M C van Leijsen, Ingeborg W M van Uden, Mohsen Ghafoorian, Mayra I Bergkamp, Valerie Lohner, Eline C M Kooijmans, Helena M van der Holst, Anil M Tuladhar, David G Norris, Ewoud J van Dijk, Loes C A Rutten-Jacobs, Bram Platel, Catharina J M Klijn, Frank-Erik de Leeuw
OBJECTIVE: To investigate the temporal dynamics of cerebral small vessel disease (SVD) by 3 consecutive assessments over a period of 9 years, distinguishing progression from regression. METHODS: Changes in SVD markers of 276 participants of the Radboud University Nijmegen Diffusion Tensor and Magnetic Resonance Imaging Cohort (RUN DMC) cohort were assessed at 3 time points over 9 years. We assessed white matter hyperintensities (WMH) volume by semiautomatic segmentation and rated lacunes and microbleeds manually...
September 6, 2017: Neurology
https://www.readbyqxmd.com/read/28843656/disease-outcomes-in-a-cohort-of-women-infected-by-hepatitis-c-contaminated-anti-d-immunoglobulin-during-1970s
#5
Patricia Garvey, Niamh Murphy, Paula Flanagan, Aline Brennan, Garry Courtney, Orla Crosbie, John Crowe, John Hegarty, John Lee, Margaret McIver, Carol McNulty, Frank Murray, Niamh Nolan, Cliona O'Farrelly, Stephen Stewart, Michele Tait, Suzanne Norris, Lelia Thornton
INTRODUCTION: In the mid 1990s, a group of Rh negative women was diagnosed with hepatitis C virus (HCV) genotype 1b infection following administration of contaminated anti-D immunoglobulin in 1977-79. We describe their disease history and estimate the effect of selected host and treatment factors on disease progression. METHODS: We conducted a cohort study on the women infected with HCV. Information was collected from records at seven HCV treatment centres on demographics, treatment and health outcomes up to 31st December 2013...
August 23, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28838087/quality-of-life-following-coronary-artery-bypass-graft-surgery-vs-percutaneous-coronary-intervention-in-diabetics-with-multivessel-disease-a-five-year-registry-study
#6
Brent M McGrath, Colleen M Norris, Emeleigh Hardwicke-Brown, Robert C Welsh, Kevin R Bainey
Aims: The aim of this study is to investigate the long-term relationship between revascularization technique and health status in diabetics with multivessel disease. Methods and results: Using the Alberta Provincial Project for Outcomes Assessment in Coronary Heart Disease (APPROACH) registry, we captured 1319 diabetics with multivessel disease requiring revascularization for an acute coronary syndrome (January 2009-December 2012) and reported health status using the Seattle Angina Questionnaire (SAQ) at baseline, 1, 3 and 5-years [599 underwent coronary artery bypass grafting (CABG); 720 underwent percutaneous coronary intervention (PCI)]...
July 1, 2017: European Heart Journal. Quality of Care & Clinical Outcomes
https://www.readbyqxmd.com/read/28816800/acute-sickle-cell-orbitopathy-masquerading-as-orbital-cellulitis
#7
Christopher M Stewart, Zuzana Sipkova, Goran D Hildebrand, Jonathan H Norris
Sickle cell orbitopathy is a rare manifestation of a sickle cell crisis and can closely mimic orbital cellulitis, both clinically and radiologically. We present a case where a child presented with what was thought to be orbital cellulitis and was treated accordingly. Subtle radiologic features of sickle cell orbitopathy were initially overlooked, resulting in an incorrect diagnosis and a treatment delay for the patient. Correctly treated most cases resolve with no adverse affects, highlighting how important it is to consider acute sickle cell orbitopathy in the differential diagnosis of acute periorbital swelling in children with sickle disease...
August 14, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28810870/vector-borne-and-zoonotic-diseases-of-dogs-in-north-west-new-south-wales-and-the-northern-territory-australia
#8
Amanda J Shapiro, Graeme Brown, Jacqueline M Norris, Katrina L Bosward, Debbie J Marriot, Nandhakumar Balakrishnan, Edward B Breitschwerdt, Richard Malik
BACKGROUND: Vector-borne diseases of dogs in Australian Aboriginal communities are relatively unexplored. These dogs represent a unique group with variable ecto- and endo-parasitic burdens, nutritional stresses and a general lack of veterinary intervention. We investigated haemoprotozoal and bacterial pathogen prevalences in relation to erythrocyte and platelet numbers in dogs from North-West New South Wales (N-W NSW) and the Northern Territory (NT; Central Australia). METHODS: Real-time PCR (qPCR) amplification of Anaplasma platys, Babesia vogeli, Mycoplasma haemocanis, Candidatus Mycoplasma haematoparvum and Bartonella spp...
August 15, 2017: BMC Veterinary Research
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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/an-improved-akt-reporter-reveals-intra-and-inter-cellular-heterogeneity-and-oscillations-in-signal-transduction
#18
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 play 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 proteins. Here, we observed that fusion of eGFP to Akt2 impaired both its insulin-stimulated plasma membrane recruitment and its phosphorylation. Endogenous-like responses were restored by replacing eGFP with TagRFP-T...
August 15, 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
#19
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
#20
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
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