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https://www.readbyqxmd.com/read/28637873/disease-linked-mutations-in-factor-h-reveal-pivotal-role-of-cofactor-activity-in-self-surface-selective-regulation-of-complement-activation
#1
Heather Kerr, Edwin Wong, Elisavet Makou, Yi Yang, Kevin Marchbank, David Kavanagh, Anna Richards, Andrew P Herbert, Paul N Barlow
Spontaneous activation enables the complement system to respond very rapidly to diverse threats. Activation is efficiently suppressed by complement factor H (CFH) on self surfaces but not foreign surfaces. The surface selectivity of CFH, a soluble protein containing 20 CCP modules (CCPs 1-20), may be compromised by disease-linked mutations. Which of the several functions of CFH drives its self-surface selectivity remains unknown. We made human CFH mutants in Pichia pastoris. In benchmark studies of CCP-1 variants, recombinant I62-CFH (protective against age-related macular degeneration) and V62-CFH functioned equivalently, matching or outperforming plasma-derived CFH while R53H-CFH, linked to atypical haemolytic uraemic syndrome (aHUS), was defective in C3bBb decay-accelerating activity (DAA) and factor I-cofactor activity (CA)...
June 21, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28633253/transforming-growth-factor-beta-2-mutations-in-barlow-s-disease-and-aortic-dilatation
#2
Kushtrim Disha, Solveig Schulz, Thomas Kuntze, Evaldas Girdauskas
We report on a patient operated on for degenerative myxomatous mitral and tricuspid valve disease (Barlow's disease) and aortic root dilatation. A valve repair operation and the postoperative course were uneventful. Multigenerational genetic analyses revealed two different mutations in the transforming growth factor beta-2 gene in the same patient. The two mutations in different exons were inherited from both parents each. None of the parents presented with either valve dysfunction or aortic root dilatation...
July 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28574826/leflunomide-teriflunomide-inhibit-epstein-barr-virus-ebv-induced-lymphoproliferative-disease-and-lytic-viral-replication
#3
Andrea Bilger, Julie Plowshay, Shidong Ma, Dhananjay Nawandar, Elizabeth A Barlow, James C Romero-Masters, Jillian A Bristol, Zhe Li, Ming-Han Tsai, Henri-Jacques Delecluse, Shannon C Kenney
EBV infection causes mononucleosis and is associated with specific subsets of B cell lymphomas. Immunosuppressed patients such as organ transplant recipients are particularly susceptible to EBV-induced lymphoproliferative disease (LPD), which can be fatal. Leflunomide (a drug used to treat rheumatoid arthritis) and its active metabolite teriflunomide (used to treat multiple sclerosis) inhibit de novo pyrimidine synthesis by targeting the cellular dihydroorotate dehydrogenase, thereby decreasing T cell proliferation...
May 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28566643/prolapse-volume-to-prolapse-height-ratio-for-differentiating-barlow-s-disease-from-fibroelastic-deficiency
#4
Nobuyuki Kagiyama, Misako Toki, Akihiro Hayashida, Minako Ohara, Atsushi Hirohata, Keizo Yamamoto, Toshinori Totsugawa, Taichi Sakaguchi, Kiyoshi Yoshida, Mitsuaki Isobe
BACKGROUND: As mitral valve (MV) repair for Barlow's disease remains surgically challenging, it is important to distinguish Barlow's disease from fibroelastic deficiency (FED) preoperatively. We hypothesized that the prolapse volume to prolapse height ratio (PV-PH ratio) may be useful to differentiate Barlow's disease and FED.Methods and Results:In 76 patients with MV prolapse who underwent presurgical transesophageal echocardiography, the 3D MV morphology was quantified: 19 patients were diagnosed with Barlow's disease and 57 with FED...
May 31, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28542602/antimicrobial-resistance-status-of-enterococcus-from-australian-cattle-populations-at-slaughter
#5
Robert S Barlow, Kate E McMillan, Lesley L Duffy, Narelle Fegan, David Jordan, Glen E Mellor
Antimicrobial agents are used in cattle production systems for the prevention and control of bacterial associated diseases. A consequence of their use is the potential development of antimicrobial resistance (AMR). Enterococcus faecium and Enterococcus faecalis that are resistant to antimicrobials are of increased concern to public health officials throughout the world as they may compromise the ability of various treatment regimens to control disease and infection in human medicine. Australia is a major exporter of beef; however it does not have an ongoing surveillance system for AMR in cattle or foods derived from these animals...
2017: PloS One
https://www.readbyqxmd.com/read/28540065/dynamic-and-quantitative-evaluation-of-degenerative-mitral-valve-disease-a-dedicated-framework-based-on-cardiac-magnetic-resonance-imaging
#6
Francesco Sturla, Francesco Onorati, Giovanni Puppini, Omar A Pappalardo, Matteo Selmi, Emiliano Votta, Giuseppe Faggian, Alberto Redaelli
BACKGROUND: Accurate quantification of mitral valve (MV) morphology and dynamic behavior over the cardiac cycle is crucial to understand the mechanisms of degenerative MV dysfunction and to guide the surgical intervention. Cardiac magnetic resonance (CMR) imaging has progressively been adopted to evaluate MV pathophysiology, although a dedicated framework is required to perform a quantitative assessment of the functional MV anatomy. METHODS: We investigated MV dynamic behavior in subjects with normal MV anatomy (n=10) and patients referred to surgery due to degenerative MV prolapse, classified as fibro-elastic deficiency (FED, n=9) and Barlow's disease (BD, n=10)...
April 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28484585/disappearance-of-electrocardiographic-abnormalities-associated-with-the-arrhythmic-pattern-of-a-barlow-disease-after-surgical-mitral-valve-repair
#7
Matteo Augello, Luca Lanzarini
We describe the case of a 46-year old female with a Barlow's disease (MVP) characterized by systolic curling of posterior left ventricular (LV) wall + significant mitral annular disjunction + complex ventricular arrhythmias + syncope + inverted T waves in inferolateral leads in whom a successful surgical mitral valve rapair determined the disappearance not only of the echocardiographic but also the electrocar-diographic abnormalities (in particular the inferolateral T waves inversion on basal electrocardiogram and the complex basal arrhythmic pattern)...
April 6, 2017: Clinics and Practice
https://www.readbyqxmd.com/read/28471033/the-decision-making-threshold-and-the-factors-that-affect-it-a-qualitative-study-of-patients-decision-making-in-knee-replacement-surgery
#8
T Barlow, P Scott, L Thomson, D Griffin, A Realpe
BACKGROUND: Osteoarthritis is a significant cause of burden to the ageing population and knee replacement is a common operation for treatment of end-stage disease. We aimed to explore these factors to help understand patients' decision-making, which is critical in informing patient-centred care. These can be used to enhance decision-making and dialogue between clinicians and patients, allowing a more informed choice. METHODS: The study consisted of two focus groups, in a patient cohort after total knee replacement followed by more in-depth interviews to further test and explore themes from the focus groups, in patients in either the deliberation stage or the decision-making stage...
May 4, 2017: Musculoskeletal Care
https://www.readbyqxmd.com/read/28453532/feasibility-of-computerized-working-memory-training-in-individuals-with-huntington-disease
#9
Mahsa Sadeghi, Emily Barlow-Krelina, Clare Gibbons, Komal T Shaikh, Wai Lun Alan Fung, Wendy S Meschino, Christine Till
OBJECTIVES: Huntington disease (HD) is associated with a variety of cognitive deficits, with prominent difficulties in working memory (WM). WM deficits are notably compromised in early-onset and prodromal HD patients. This study aimed to determine the feasibility of a computerized WM training program (Cogmed QM), novel to the HD population. METHODS: Nine patients, aged 26-62, with early stage HD underwent a 25-session (5 days/week for 5 weeks) WM training program (Cogmed QM)...
2017: PloS One
https://www.readbyqxmd.com/read/28451914/assessment-of-anti-vinculin-and-anti-cytolethal-distending-toxin-b-antibodies-in-subtypes-of-irritable-bowel-syndrome
#10
Ali Rezaie, Sung Chul Park, Walter Morales, Emily Marsh, Anthony Lembo, Jae Hak Kim, Stacy Weitsman, Kathleen S Chua, Gillian M Barlow, Mark Pimentel
BACKGROUND: Antibodies to cytolethal distending toxin B (CdtB) and vinculin are novel biomarkers that rule-in and differentiate irritable bowel syndrome with diarrhea (IBS-D) from other causes of diarrhea and healthy controls. AIM: To determine whether these antibodies can also diagnose and differentiate other IBS subtypes. METHODS: Subjects with IBS-D based on Rome III criteria (n = 2375) were recruited from a large-scale multicenter clinical trial (TARGET 3)...
April 27, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28432043/transoesophageal-three-dimensional-echocardiographic-diagnosis-of-barlow-s-disease
#11
Julio Cesar Sauza Sosa, Nilda Espinola-Zavaleta
No abstract text is available yet for this article.
April 20, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28425760/polar-phase-indices-of-perioral-muscle-reciprocity-during-syllable-production-in-parkinson-s-disease
#12
Shin Ying Chu, Steven M Barlow, Jaehoon Lee, Jingyan Wang
PURPOSE: This research characterised perioral muscle reciprocity and amplitude ratio in lower lip during bilabial syllable production [pa] at three rates to understand the neuromotor dynamics and scaling of motor speech patterns in individuals with Parkinson's disease (PD). METHOD: Electromyographic (EMG) signals of the orbicularis oris superior [OOS], orbicularis oris inferior [OOI] and depressor labii inferioris [DLI] were recorded during syllable production and expressed as polar-phase notations...
February 8, 2017: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28407104/minimally-invasive-or-conventional-edge-to-edge-repair-for-severe-mitral-regurgitation-due-to-bileaflet-prolapse-in-barlow-s-disease-does-the-surgical-approach-have-an-impact-on-the-long-term-results-%C3%A2
#13
Michele De Bonis, Elisabetta Lapenna, Benedetto Del Forno, Stefania Di Sanzo, Andrea Giacomini, Davide Schiavi, Luca Vicentini, Azeem Latib, Alberto Pozzoli, Federico Pappalardo, Giovanni La Canna, Ottavio Alfieri
OBJECTIVES: To evaluate whether the adoption of a right minithoracotomy operative approach had an impact on the long-term results of edge-to-edge (EE) repair compared to conventional sternotomy in patients with Barlow's disease and bileaflet prolapse. METHODS: We assessed the long-term results of 104 patients with Barlow's disease treated with a minimally invasive EE technique. An equal number of patients had a conventional median sternotomy EE repair for the same disease and were used as a control group...
April 11, 2017: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/28406735/capture-recapture-using-existing-data-sources-to-improve-perinatal-hepatitis-b-surveillance-philadelphia-2008-2014
#14
Danica E Kuncio, E Claire Newbern, Liyuan Ma, Robbie Madera, Bruce Barlow, S Ginny Robison, Kendra M Viner, Caroline C Johnson
OBJECTIVE: The objective of this study was to describe the capture-recapture method used by the Philadelphia Department of Public Health to enhance surveillance of perinatal hepatitis B virus (HBV), report on results and limitations of the process, and determine why some HBV-positive mother-infant pairs were not initially identified by Philadelphia's Perinatal Hepatitis B Prevention Program (PHBPP). METHODS: We performed capture-recapture retrospectively for births in 2008 and 2009 in Philadelphia and prospectively for births from 2010 to 2014 by independently matching annual birth certificate data to PHBPP and HBV surveillance data...
May 2017: Public Health Reports
https://www.readbyqxmd.com/read/28375482/clinical-and-manometric-characteristics-of-patients-with-parkinson-s-disease-and-esophageal-symptoms
#15
A Su, R Gandhy, C Barlow, G Triadafilopoulos
Dysphagia is a common problem in patients with Parkinson's disease (PD); its etiology is multifactorial and its management is challenging. In this retrospective cohort analysis using prospectively collected data, we aimed to objectively characterize dysphagia and/or other esophageal symptoms in patients with PD, assess the prevalence of outflow obstruction as well as major or minor disorders of esophageal peristalsis leading to impaired esophageal clearance and highlight objective parameters that can help in the current management algorithm...
April 1, 2017: Diseases of the Esophagus: Official Journal of the International Society for Diseases of the Esophagus
https://www.readbyqxmd.com/read/28349968/neural-crest-cells-contribute-an-astrocyte-like-glial-population-to-the-spleen
#16
Amanda J Barlow-Anacker, Ming Fu, Christopher S Erickson, Federica Bertocchini, Ankush Gosain
Neural crest cells (NCC) are multi-potent cells of ectodermal origin that colonize diverse organs, including the gastrointestinal tract to form the enteric nervous system (ENS) and hematopoietic organs (bone marrow, thymus) where they participate in lymphocyte trafficking. Recent studies have implicated the spleen as an anatomic site for integration of inflammatory signals from the intestine with efferent neural inputs. We have previously observed alterations in splenic lymphocyte subsets in animals with defective migration of NCC that model Hirschsprung's disease, leading us to hypothesize that there may be a direct cellular contribution of NCC to the spleen...
March 28, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28341561/duvoglustat-hcl-increases-systemic-and-tissue-exposure-of-active-acid-%C3%AE-glucosidase-in-pompe-patients-co-administered-with-alglucosidase-%C3%AE
#17
Priya Kishnani, Mark Tarnopolsky, Mark Roberts, Kumarswamy Sivakumar, Majed Dasouki, Mazen M Dimachkie, Erika Finanger, Ozlem Goker-Alpan, Karl A Guter, Tahseen Mozaffar, Muhammad Ali Pervaiz, Pascal Laforet, Todd Levine, Matthews Adera, Richard Lazauskas, Sheela Sitaraman, Richie Khanna, Elfrida Benjamin, Jessie Feng, John J Flanagan, Jay Barth, Carrolee Barlow, David J Lockhart, Kenneth J Valenzano, Pol Boudes, Franklin K Johnson, Barry Byrne
Duvoglustat HCl (AT2220, 1-deoxynojirimycin) is an investigational pharmacological chaperone for the treatment of acid α-glucosidase (GAA) deficiency, which leads to the lysosomal storage disorder Pompe disease, which is characterized by progressive accumulation of lysosomal glycogen primarily in heart and skeletal muscles. The current standard of care is enzyme replacement therapy with recombinant human GAA (alglucosidase alfa [AA], Genzyme). Based on preclinical data, oral co-administration of duvoglustat HCl with AA increases exposure of active levels in plasma and skeletal muscles, leading to greater substrate reduction in muscle...
May 3, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28332088/simple-technique-of-repair-for-barlow-syndrome-with-posterior-resection-and-chordal-transfer-via-minimally-invasive-approach-primary-experience-in-a-consecutive-series-of-22-patients
#18
H Kamiya, Payam Akhyari, J-P Minol, A C Ites, T Weinreich, S Sixt, P Rellecke, U Boeken, A Albert, A Lichtenberg
OBJECTIVE: Current techniques for mitral valve repair (MVR) in Barlow's disease require high level of surgical expertise due to a complex anatomy. A novel and simple standardized technique that particularly considers the pathological changes of the mitral valve in Barlow's disease has been developed. METHODS: Between 2009 and 2013, 22 patients underwent minimally invasive MVR for Barlow's disease and severe mitral regurgitation (MR). A simple, standardized technique was applied, including resection of P2 segment of posterior mitral leaflet (PML) with preservation of the shortest chordae, transfer of the preserved chordae to A2, and implantation of a semi-rigid open ring...
March 22, 2017: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28328293/history-of-knowledge-and-evolution-of-occupational-health-and-regulatory-aspects-of-asbestos-exposure-science-1900-1975
#19
Christy A Barlow, Jennifer Sahmel, Dennis J Paustenbach, John L Henshaw
The understanding by industrial hygienists of the hazards of asbestos and appropriate ways to characterize and control exposure has evolved over the years. Here, a detailed analysis of the evolution of industrial hygiene practices regarding asbestos and its health risks, from the early 1900s until the advent of the national occupational health and safety regulatory structure currently in place in the US (early-to-mid 1970s) is presented. While industrial hygienists recognized in the early 1900s that chronic and high-level exposures to airborne concentrations of asbestos could pose a serious health hazard, it was not until the mid-1950s that the carcinogenic nature of asbestos began to be characterized and widespread concern followed...
March 22, 2017: Critical Reviews in Toxicology
https://www.readbyqxmd.com/read/28323949/plasma-arginine-asymmetric-dimethylarginine-ratio-and-incidence-of-cardiovascular-events-a-case-cohort-study
#20
Edward Yu, Miguel Ruiz-Canela, Frank B Hu, Clary B Clish, Dolores Corella, Jordi Salas-Salvadó, Adela Hruby, Montserrat Fitó, Liming Liang, Estefanía Toledo, Emilio Ros, Ramón Estruch, Enrique Gómez-Gracia, José Lapetra, Fernando Arós, Dora Romaguera, Lluís Serra-Majem, Marta Guasch-Ferré, Dong D Wang, Miguel A Martínez-González
Context: Arginine, its methylated metabolites, and other metabolites related to the urea cycle have been independently associated with cardiovascular risk, but the potential causal meaning of these associations (positive for some metabolites and negative for others) remains elusive due to a lack of studies measuring metabolite changes over time. Objective: To examine the association between baseline and 1-year concentrations of urea cycle metabolites and cardiovascular disease (CVD) in a case-cohort setting...
June 1, 2017: Journal of Clinical Endocrinology and Metabolism
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