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norrie's disease

Scott A Norris, H A Jinnah, Alberto J Espay, Christine Klein, Norbert Brüggemann, Richard L Barbano, Irene Andonia C Malaty, Ramon L Rodriguez, Marie Vidailhet, Emmanuel Roze, Stephen G Reich, Brian D Berman, Mark S LeDoux, Sarah Pirio Richardson, Pinky Agarwal, Zoltan Mari, William G Ondo, Ludy C Shih, Susan H Fox, Alfredo Berardelli, Claudia M Testa, Florence Ching-Fen Cheng, Daniel Truong, Fatta B Nahab, Tao Xie, Mark Hallett, Ami R Rosen, Laura J Wright, Joel S Perlmutter
BACKGROUND: Clinical characteristics of isolated idiopathic cervical dystonia such as onset site and spread to and from additional body regions have been addressed in single-site studies with limited data and incomplete or variable dissociation of focal and segmental subtypes. The objectives of this study were to characterize the clinical characteristics and demographics of isolated idiopathic cervical dystonia in the largest standardized multicenter cohort. METHODS: The Dystonia Coalition, through a consortium of 37 recruiting sites in North America, Europe, and Australia, recruited 1477 participants with focal (60...
October 18, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
Diane G Edmondson, Sabitha Prabhakaran, Steven J Norris, Amy J Ullmann, Joe Piesman, Marc Dolan, Christian Probst, Christiane Radzimski, Winfried Stöcker, Lars Komorowski
Lyme borreliosis is caused by tick-transmitted spirochetes of the Borrelia burgdorferi sensu lato group and is the most common vector-borne disease in the United States and Europe. Outer surface protein C (OspC) is a 23 kDa outer surface lipoprotein expressed during spirochete transmission from the tick to the vertebrate host. In a previous study, we found that immunization with a recombinant disulfide-bridged dimeric form of OspC (D-OspC) stimulates increased antibody responses relative to immunization with commonly employed monomeric OspC...
October 12, 2016: Clinical and Vaccine Immunology: CVI
Angus J M Watson, Jemma Hudson, Jessica Wood, Mary Kilonzo, Steven R Brown, Alison McDonald, John Norrie, Hanne Bruhn, Jonathan A Cook
BACKGROUND: Two commonly performed surgical interventions are available for severe (grade II-IV) haemorrhoids; traditional excisional surgery and stapled haemorrhoidopexy. Uncertainty exists as to which is most effective. The eTHoS trial was designed to establish the clinical effectiveness and cost-effectiveness of stapled haemorrhoidopexy compared with traditional excisional surgery. METHODS: The eTHoS trial was a large, open-label, multicentre, parallel-group, pragmatic randomised controlled trial done in adult participants (aged 18 years or older) referred to hospital for surgical treatment for grade II-IV haemorrhoids...
October 7, 2016: Lancet
Hong Yan Liu, Jia Huang, Rui Li Wang, Yue Wang, Liang Jie Guo, Tao Li, Dong Wu, Hong Dan Wang, Qian Nan Guo, Dao Quan Dong
Familial exudative vitreoretinopathy (FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. In this report, we describe a novel missense mutation of the Norrie disease gene (NDP) in a Chinese family with X-linked FEVR. Ophthalmologic evaluation was performed on four male patients and seven unaffected individuals after informed consent was obtained. Venous blood was collected from the 11 members of this family, and genomic DNA was extracted using standard methods...
October 6, 2016: Journal of the Chinese Medical Association: JCMA
Augusto Azuara-Blanco, Jennifer Burr, Craig Ramsay, David Cooper, Paul J Foster, David S Friedman, Graham Scotland, Mehdi Javanbakht, Claire Cochrane, John Norrie
BACKGROUND: Primary angle-closure glaucoma is a leading cause of irreversible blindness worldwide. In early-stage disease, intraocular pressure is raised without visual loss. Because the crystalline lens has a major mechanistic role, lens extraction might be a useful initial treatment. METHODS: From Jan 8, 2009, to Dec 28, 2011, we enrolled patients from 30 hospital eye services in five countries. Randomisation was done by a web-based application. Patients were assigned to undergo clear-lens extraction or receive standard care with laser peripheral iridotomy and topical medical treatment...
October 1, 2016: Lancet
Rajat Sharma, Colleen M Norris, Gabor Gyenes, Manohara Senaratne, Kevin R Bainey
BACKGROUND: Unequivocally, cardiac rehabilitation (CR) in patients with established cardiovascular disease improves survival. However, its effect on higher-risk ethnic groups has not been explored. Accordingly, we evaluated the effect of CR on South Asian (SA) compared with European Canadians with coronary artery disease (CAD). METHODS: Using the Alberta Provincial Project for Outcome Assessment in Coronary Heart Disease (APPROACH) registry, 26,167 patients from Edmonton, Alberta who received coronary angiography with documented CAD were reviewed (January 2002 to March 2012)...
October 2016: Canadian Journal of Cardiology
Yingying Su, Guowei Ding, Kathleen H Reilly, Jessie L Norris, Huixin Liu, Zheng Li, Guixiang Wang, Ganggang Fang, Ning Wang
BACKGROUND: Longitudinal studies of female sex workers (FSWs) are vulnerable to loss to follow-up (LTFU) due to this population's high mobility and low willingness to self-identify as FSWs. LTFU in cohort studies is a critical problem and may lead to bias in estimation of incidence and exposure-outcome associations. The aim of this study was to analyze LTFU and HIV incidence and their associated factors in a 9-year longitudinal study of FSWs in Kaiyuan, Yunnan Province, China. METHODS: This analysis includes all HIV-1 seronegative FSWs who were recruited into a prospective study in Kaiyuan with at least one follow-up visit after enrollment from March 2006 to November 2013...
September 29, 2016: BMC Infectious Diseases
Marianne I Clark, Kerry R McGannon, Tanya R Berry, Colleen M Norris, Wendy M Rodgers, John C Spence
The Canadian Heart and Stroke Foundation launched the Heart Truth campaign to increase women's awareness of heart disease. However, little is known about how such campaigns intersect with broader understandings of gender and health. This discourse analysis examined the construction of gender, risk, and prevention within campaign material. Two primary discourses emerged: one of acceptable femininity, which outlines whose risk, survivorship, and prevention matters, and another of selfless prevention. Women of diverse ethnic, sexual, and socio-economic background were largely absent...
September 28, 2016: Journal of Health Psychology
Santosh Kumar, Chase Kempinski, Xun Zhuang, Ayla Norris, Sibongile Mafu, Jiachen Zi, Stephen A Bell, S Eric Nybo, Scott E Kinison, Zuodong Jiang, Sheba Goklany, Kristin B Linscott, Xinlu Chen, Qidong Jia, Shoshana D Brown, John L Bowman, Patricia C Babbitt, Reuben J Peters, Feng Chen, Joe Chappell
Marchantia polymorpha is a basal terrestrial land plant, which like most liverworts accumulates structurally diverse terpenes believed to serve in deterring disease and herbivory. Previous studies have suggested that the mevalonate and methylerythritol phosphate pathways, present in evolutionarily diverged plants, are also operative in liverworts. However, the genes and enzymes responsible for the chemical diversity of terpenes have yet to be described. In the current study, we resorted to a HMMER search tool to identify 17 putative terpene synthase genes from M...
September 20, 2016: Plant Cell
Sheila M Keating, John W Heitman, Shiquan Wu, Xutao Deng, Andrea R Stacey, Roland C Zahn, Maurus de la Rosa, Samantha L Finstad, Jeffrey D Lifson, Michael Piatak, Marie-Claire Gauduin, Benedikt M Kessler, Nicola Ternette, Angela Carville, R Paul Johnson, Ronald C Desrosiers, Norman L Letvin, Persephone Borrow, Philip J Norris, Joern E Schmitz
: Acute HIV infection represents a period of intense immune perturbation and activation of the host immune system. Study of the eclipse and viral expansion phases of infection is difficult in humans, but studies in non-progressive and progressive nonhuman primate infection models can provide significant insight into critical events occurring during this time. Cytokines, chemokines and other soluble immune factors were measured in longitudinal samples from rhesus macaques infected with either SIVmac251 (progressive infection) or SIVmac239Δnef (attenuated/non-progressive infection), and from African green monkeys infected with SIVsab9315BR (non-pathogenic infection)...
September 14, 2016: Journal of Virology
Urmi Bhaumik, Susan J Sommer, Judith Giller-Leinwohl, Kerri Norris, Lindsay Tsopelas, Shari Nethersole, Elizabeth R Woods
OBJECTIVE: To evaluate the costs and benefits of the Boston Children's Hospital Community Asthma Initiative (CAI) through reduction of Emergency Department (ED) visits and hospitalizations for the full pilot phase program participants. METHODS: A cost-benefit analyses was conducted using hospital administrative data to determine an adjusted Return on Investment (ROI): on all 268 patients enrolled in the CAI program during the 33 month pilot program phase of CAI intervention between October 1, 2005 and June 30, 2008 using a comparison group of 818 patients from a similar cohort in neighboring ZIP codes without CAI intervention...
September 13, 2016: Journal of Asthma: Official Journal of the Association for the Care of Asthma
A J Shapiro, J M Norris, K L Bosward, J Heller
A Q fever outbreak in a small animal veterinary hospital, associated with a cat caesarean section, initiated a cat seroprevalence study (n = 712) that found circulating antibodies to Coxiella burnetii was highest in cattery-confined breeding cats (9.3%). These findings stimulated interest about potential sources of C. burnetii infection for cats and humans associated with cats. Cat breeders are potentially a group at increased risk of C. burnetii infection, and this study sought to identify potential risk factors...
September 13, 2016: Zoonoses and Public Health
Ling Guo, Hongyan Zhang, Yinglong Hou, Tianshu Wei, Ju Liu
Endothelial subcellular structures, including caveolae, fenestrae and transendothelial channels, are crucial for regulating microvascular function. Plasmalemma vesicle-associated protein (PLVAP) is an endothelial cell-specific protein that forms the stomatal and fenestral diaphragms of blood vessels and regulates basal permeability, leukocyte migration and angiogenesis. Loss of PLVAP in mice leads to premature mortality due to disrupted homeostasis. Evidence from previous studies suggested that PLVAP is involved in cancer, traumatic spinal cord injury, acute ischemic brain disease, transplant glomerulopathy, Norrie disease and diabetic retinopathy...
September 2016: Experimental and Therapeutic Medicine
Sunita Paudyal, Frances M Yang, Christopher Rice, Chen-Chun Chen, Michael Skelton, Monique Bethel, Shilpa Brown, Norris Stanley Nahman, Laura Carbone
OBJECTIVES: To determine the frequency of end-stage renal disease (ESRD) in patients with rheumatoid arthritis (RA), the causes of ESRD, and the treatment of RA in the setting of ESRD. METHODS: Cross-sectional study of RA (N = 3754) and non-RA (N = 326,776) patients in the United States Renal Data System (USRDS) during 2011 (N = 330,530). The epidemiology of ESRD in RA was determined and the etiology of ESRD in patients with and without RA was compared. The frequency of patients with RA with at least one filled prescription for prednisone/prednisolone, a DMARD, and/or a biologic in 2011 was determined...
August 2, 2016: Seminars in Arthritis and Rheumatism
Philippe Jean-Luc Gradidge, Shane A Norris, Nicole G Jaff, Nigel J Crowther
BACKGROUND: The aetiology of the metabolic syndrome and the inter-relationship between risk factors for this syndrome are poorly understood. The purpose of this investigation was to determine the risk factors for metabolic syndrome and their interactions in a cohort of women with a high prevalence of metabolic syndrome. MATERIALS AND METHODS: Abdominal and whole body composition (ultrasound and dual-energy X-ray absorptiometry), blood pressure, and cardiometabolic and demographic factors were measured in a cross-sectional study of 702 black African women from Soweto, Johannesburg...
2016: PloS One
Aytul Corbacioglu Esmer, Tugba Sarac Sivrikoz, Elif Yilmaz Gulec, Salim Sezer, Ibrahim Kalelioglu, Recep Has, Atil Yuksel
Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. Bilateral hyperechoic lenses and retinal nonattachment were detected in the sonographic examination of the first case, whereas irregular echogenic bands between the lenses and posterior walls of the eyes were prominent in the second case...
October 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Anna C Seale, Angela C Koech, Anna E Sheppard, Hellen C Barsosio, Joyce Langat, Emily Anyango, Stella Mwakio, Salim Mwarumba, Susan C Morpeth, Kirimi Anampiu, Alison Vaughan, Adam Giess, Polycarp Mogeni, Leahbell Walusuna, Hope Mwangudzah, Doris Mwanzui, Mariam Salim, Bryn Kemp, Caroline Jones, Neema Mturi, Benjamin Tsofa, Edward Mumbo, David Mulewa, Victor Bandika, Musimbi Soita, Maureen Owiti, Norris Onzere, A Sarah Walker, Stephanie J Schrag, Stephen H Kennedy, Greg Fegan, Derrick W Crook, James A Berkley
Streptococcus agalactiae (group B streptococcus, GBS) causes neonatal disease and stillbirth, but its burden in sub-Saharan Africa is uncertain. We assessed maternal recto-vaginal GBS colonization (7,967 women), stillbirth and neonatal disease. Whole-genome sequencing was used to determine serotypes, sequence types and phylogeny. We found low maternal GBS colonization prevalence (934/7,967, 12%), but comparatively high incidence of GBS-associated stillbirth and early onset neonatal disease (EOD) in hospital (0...
2016: Nature Microbiology
Jacob I Stuckey, Catherine Simpson, Jacqueline L Norris-Drouin, Stephanie H Cholensky, Junghyun Lee, Ryan Pasca, Nancy Cheng, Bradley M Dickson, Kenneth H Pearce, Stephen V Frye, Lindsey I James
To better understand the contribution of methyl-lysine (Kme) binding proteins to various disease states, we recently developed and reported the discovery of 1 (UNC3866), a chemical probe that targets two families of Kme binding proteins, CBX and CDY chromodomains, with selectivity for CBX4 and -7. The discovery of 1 was enabled in part by the use of molecular dynamics simulations performed with CBX7 and its endogenous substrate. Herein, we describe the design, synthesis, and structure-activity relationship studies that led to the development of 1 and provide support for our model of CBX7-ligand recognition by examining the binding kinetics of our antagonists with CBX7 as determined by surface-plasmon resonance...
October 13, 2016: Journal of Medicinal Chemistry
Maryam Shabihkhani, Steven S Yu, Dongyun Yang, Sonia Lin, Ann S Hamilton, Heinz-Josef Lenz, Afsaneh Barzi
BACKGROUND: In United States Hispanics have disparities in the presentation and outcome of colorectal cancer (CRC) largely attributed to their late presentation and lower socioeconomic status. Impact of treatment, especially in the metastatic setting, in the observed outcome is an unexplored area. We explored the role of treatment in the outcome of metastatic CRC we performed a retrospective analysis to assess the contribution of demographics, tumor characteristics, and health care setting on survival differences...
March 31, 2016: Clinical Colorectal Cancer
Thomas Bertero, William M Oldham, Katherine A Cottrill, Sabrina Pisano, Rebecca R Vanderpool, Qiujun Yu, Jingsi Zhao, Yiyin Tai, Ying Tang, Ying-Yi Zhang, Sofiya Rehman, Masataka Sugahara, Zhi Qi, John Gorcsan, Sara O Vargas, Rajan Saggar, Rajeev Saggar, W Dean Wallace, David J Ross, Kathleen J Haley, Aaron B Waxman, Victoria N Parikh, Teresa De Marco, Priscilla Y Hsue, Alison Morris, Marc A Simon, Karen A Norris, Cedric Gaggioli, Joseph Loscalzo, Joshua Fessel, Stephen Y Chan
Dysregulation of vascular stiffness and cellular metabolism occurs early in pulmonary hypertension (PH). However, the mechanisms by which biophysical properties of the vascular extracellular matrix (ECM) relate to metabolic processes important in PH remain undefined. In this work, we examined cultured pulmonary vascular cells and various types of PH-diseased lung tissue and determined that ECM stiffening resulted in mechanoactivation of the transcriptional coactivators YAP and TAZ (WWTR1). YAP/TAZ activation modulated metabolic enzymes, including glutaminase (GLS1), to coordinate glutaminolysis and glycolysis...
September 1, 2016: Journal of Clinical Investigation
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