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https://www.readbyqxmd.com/read/27915031/acid-ceramidase-deficiency-is-characterized-by-a-unique-plasma-cytokine-and-ceramide-profile-that-is-altered-by-therapy
#1
Shaalee Dworski, Ping Lu, Aneal Khan, Bruno Maranda, John J Mitchell, Rossella Parini, Maja Di Rocco, Boris Hugle, Makoto Yoshimitsu, Bo Magnusson, Balahan Makay, Nur Arslan, Norberto Guelbert, Karoline Ehlert, Andrea Jarisch, Janet Gardner-Medwin, Rawane Dagher, Maria Teresa Terreri, Charles Marques Lorenco, Lilianna Barillas-Arias, Pranoot Tanpaiboon, Alexander Solyom, James S Norris, Xingxuan He, Edward H Schuchman, Thierry Levade, Jeffrey A Medin
Acid Ceramidase Deficiency (Farber Disease, FD) is an ultra-rare Lysosomal Storage Disorder that is poorly understood and often misdiagnosed as Juvenile Idiopathic Arthritis (JIA). Hallmarks of FD are accumulation of ceramides, widespread macrophage infiltration, splenomegaly, and lymphocytosis. The cytokines involved in this abnormal hematopoietic state are unknown. There are dozens of ceramide species and derivatives, but the specific ones that accumulate in FD have not been investigated. We used a multiplex assay to analyze cytokines and mass spectrometry to analyze ceramides in plasma from patients and mice with FD, controls, Farber patients treated by hematopoietic stem cell transplantation (HSCT), JIA patients, and patients with Gaucher disease...
November 30, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27914684/sickle-cell-disease-in-the-older-adult
#2
REVIEW
Mya S Thein, Norris E Igbineweka, Swee Lay Thein
Sickle cell disease (SCD) is an inherited haemoglobin disorder, associated with recurrent painful episodes, ongoing haemolytic anaemia and progressive multi-organ damage. Until the early 1990s, survival beyond the fourth decade for a patient with SCD was considered unusual and prompted case reports. Nowadays, in countries with developed health care systems, more than 90 percent of newborns with SCD survive into adulthood. Nevertheless, their life expectancy is still shortened by more than two decades compared to the general population...
November 30, 2016: Pathology
https://www.readbyqxmd.com/read/27906059/a-mitochondrial-hsp70-hspa9b-is-linked-to-miltefosine-resistance-and-stress-response-in-leishmania-donovani
#3
P Vacchina, B Norris-Mullins, E S Carlson, M A Morales
BACKGROUND: Protozoan parasites of the genus Leishmania are responsible for leishmaniasis, a neglected tropical disease affecting millions worldwide. Visceral leishmaniasis (VL), caused by Leishmania donovani, is the most severe form of leishmaniasis with high rates of mortality if left untreated. Current treatments include pentavalent antimonials and amphotericin B. However, high toxicity and emergence of resistance hinder the success of these options. Miltefosine (HePC) is the first oral treatment available for leishmaniasis...
December 1, 2016: Parasites & Vectors
https://www.readbyqxmd.com/read/27890830/time-course-of-glial-changes-in-the-hyperhomocysteinemia-model-of-vascular-cognitive-impairment-and-dementia-vcid
#4
Tiffany L Sudduth, Erica M Weekman, Brittani R Price, Jennifer L Gooch, Abigail Woolums, Christopher M Norris, Donna M Wilcock
Vascular cognitive impairment and dementia (VCID) is the second leading cause of dementia behind Alzheimer's disease (AD) and is a frequent co-morbidity with AD. Despite its prevalence, little is known about the molecular mechanisms underlying the cognitive dysfunction resulting from cerebrovascular disease. Astrocytic end-feet almost completely surround intraparenchymal blood vessels in the brain and express a variety of channels and markers indicative of their specialized functions in the maintenance of ionic and osmotic homeostasis and gliovascular signaling...
November 25, 2016: Neuroscience
https://www.readbyqxmd.com/read/27863174/soluble-mediators-and-clinical-features-discern-risk-of-transitioning-to-classified-disease-in-relatives-of-systemic-lupus-erythematosus-patients
#5
Melissa E Munroe, Kendra A Young, Diane L Kamen, Joel M Guthridge, Timothy B Niewold, Karen H Costenbader, Michael H Weisman, Mariko L Ishimori, Daniel J Wallace, Gary S Gilkeson, David R Karp, John B Harley, Jill M Norris, Judith A James
OBJECTIVE: Systemic lupus erythematosus (SLE) and other autoimmune diseases cause significant morbidity. Identifying populations at risk of developing SLE is essential to curtail irreversible inflammatory damage. The objective of this study was to identify factors associated with transition to classified disease that inform SLE risk. METHODS: Previously identified lupus patient blood relatives with < 4 American College of Rheumatology SLE classification criteria at baseline (n=409) were enrolled in this follow-up study...
November 18, 2016: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/27855663/pre-pregnancy-community-based-intervention-for-couples-in-malaysia-application-of-intervention-mapping
#6
Shane A Norris, Julius Cheah Chee Ho, Aswir Abd Rashed, Vibeke Vinding, Jutta K H Skau, Regien Biesma, Jens Aagaard-Hansen, Mark Hanson, Priya Matzen
BACKGROUND: Malaysia is experiencing a nutrition transition with burgeoning obesity, particularly in women, and a growing prevalence of non-communicable disease. These health burdens have severe implications not only for adult health but also across generations. Pre-conception health promotion could address the intergenerational risk of metabolic disease. This paper describes the development of the "Jom Mama" intervention using Intervention Mapping (IM). The Jom Mama intervention aims to improve the health of young adult couples in Malaysia prior to conception...
November 17, 2016: BMC Public Health
https://www.readbyqxmd.com/read/27785529/rebranding-asymptomatic-type-1-diabetes-the-case-for-autoimmune-beta-cell-disorder-as-a-pathological-and-diagnostic-entity
#7
Ezio Bonifacio, Chantal Mathieu, Gerald T Nepom, Anette-G Ziegler, Henry Anhalt, Michael J Haller, Leonard C Harrison, Matthias Hebrok, Jake A Kushner, Jill M Norris, Mark Peakman, Alvin C Powers, John A Todd, Mark A Atkinson
The asymptomatic phase of type 1 diabetes is recognised by the presence of beta cell autoantibodies in the absence of hyperglycaemia. We propose that an accurate description of this stage is provided by the name 'Autoimmune Beta Cell Disorder' (ABCD). Specifically, we suggest that this nomenclature and diagnosis will, in a proactive manner, shift the paradigm towards type 1 diabetes being first and foremost an immune-mediated disease and only later a metabolic disease, presaging more active therapeutic intervention in the asymptomatic stage of disease, before end-stage beta cell failure...
January 2017: Diabetologia
https://www.readbyqxmd.com/read/27783476/chronic-obstructive-pulmonary-disease-copd-integrated-care-pathway-project-evaluation-of-patient-outcomes-and-system-efficiencies
#8
Ola S Norrie, Rose Dziadekwich, Raquel Fernandez, Colleen J Metge
No abstract text is available yet for this article.
September 13, 2016: Journal of Population Therapeutics and Clinical Pharmacology
https://www.readbyqxmd.com/read/27753188/clinical-and-demographic-characteristics-related-to-onset-site-and-spread-of-cervical-dystonia
#9
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
https://www.readbyqxmd.com/read/27733423/enhanced-protective-immunogenicity-of-homodimeric-borrelia-burgdorferi-outer-surface-protein-c
#10
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
https://www.readbyqxmd.com/read/27726951/comparison-of-stapled-haemorrhoidopexy-with-traditional-excisional-surgery-for-haemorrhoidal-disease-ethos-a-pragmatic-multicentre-randomised-controlled-trial
#11
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...
November 12, 2016: Lancet
https://www.readbyqxmd.com/read/27720678/a-novel-missense-mutation-of-ndp-in-a-chinese-family-with-x-linked-familial-exudative-vitreoretinopathy
#12
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...
November 2016: Journal of the Chinese Medical Association: JCMA
https://www.readbyqxmd.com/read/27707497/effectiveness-of-early-lens-extraction-for-the-treatment-of-primary-angle-closure-glaucoma-eagle-a-randomised-controlled-trial
#13
COMMENT
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
https://www.readbyqxmd.com/read/27692121/effect-of-cardiac-rehabilitation-on-south-asian-individuals-with-cardiovascular-disease-results-from-the-approach-registry
#14
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
https://www.readbyqxmd.com/read/27686152/loss-to-follow-up-and-hiv-incidence-in-female-sex-workers-in-kaiyuan-yunnan-province-china-a-nine-year-longitudinal-study
#15
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
https://www.readbyqxmd.com/read/27682340/taking-a-hard-look-at-the-heart-truth-campaign-in-canada-a-discourse-analysis
#16
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
https://www.readbyqxmd.com/read/27650333/molecular-diversity-of-terpene-synthases-in-the-liverwort-marchantia-polymorpha
#17
Santosh Kumar, Chase Kempinski, Xun Zhuang, Ayla Norris, Sibongile Mafu, Jiachen Zi, Stephen A Bell, Stephen 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 this study, we resorted to a HMMER search tool to identify 17 putative terpene synthase genes from M...
October 2016: Plant Cell
https://www.readbyqxmd.com/read/27630228/magnitude-and-quality-of-cytokine-and-chemokine-storm-during-acute-infection-distinguish-nonprogressive-and-progressive-simian-immunodeficiency-virus-infections-of-nonhuman-primates
#18
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 human immunodeficiency virus (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 nonprogressive and progressive nonhuman primate (NHP) 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/nonprogressive infection) and from African green monkeys infected with SIVsab9315BR (nonpathogenic infection)...
November 15, 2016: Journal of Virology
https://www.readbyqxmd.com/read/27624870/boston-children-s-hospital-community-asthma-initiative-five-year-cost-analyses-of-a-home-visiting-program
#19
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
https://www.readbyqxmd.com/read/27621095/q-fever-coxiella-burnetii-knowledge-and-attitudes-of-australian-cat-breeders-and-their-husbandry-practices
#20
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
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