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barlow disease

Lael D Barlow, Eva Nývltová, Maria Aguilar, Jan Tachezy, Joel B Dacks
BACKGROUND: The Golgi apparatus is a central meeting point for the endocytic and exocytic systems in eukaryotic cells, and the organelle's dysfunction results in human disease. Its characteristic morphology of multiple differentiated compartments organized into stacked flattened cisternae is one of the most recognizable features of modern eukaryotic cells, and yet how this is maintained is not well understood. The Golgi is also an ancient aspect of eukaryotes, but the extent and nature of its complexity in the ancestor of eukaryotes is unclear...
March 7, 2018: BMC Biology
S Gasser, H Reichenspurner, E Girdauskas
BACKGROUND: Myxomatous mitral valve prolapse is a common cardiac abnormality. Morbus Barlow is characterized by excess myxomatous leaflet tissue, bileaflet prolapse or billowing, chordae elongation and annular dilatation with or without calcification. Extensive myxoid degeneration with destruction of the normal three-layered leaflet tissue architecture is observed histologically in such patients. Autosomal dominant inheritance with an age and sex-dependent expression has long been recognised...
February 27, 2018: BMC Cardiovascular Disorders
Christy A Barlow, Matthew Grespin, Elizabeth A Best
Differences in chemical and crystalline composition, fiber dimension, aerodynamic characteristics and biodurability are among the critical factors that define the toxicological and pathological consequences of asbestos exposure. Specifically, fiber dimension can impact whether the fiber is respired, whether and how deeply it is deposited in the lung, and how efficiently and rapidly it may be cleared. This paper provides a current, comprehensive evaluation of the weight of evidence regarding the relationship between asbestos fiber length and disease potency (for malignant and nonmalignant endpoints)...
October 2017: Inhalation Toxicology
M Joseph Phillips, Elizabeth E Capowski, Andrew Petersen, Alex D Jansen, Katherine Barlow, Kimberly L Edwards, David M Gamm
Reporter lines generated in human pluripotent stem cells can be highly useful for the analysis of specific cell types and lineages in live cultures. We created the first human rod reporter line using CRISPR/Cas9 genome editing to replace one allele of the Neural Retina Leucine zipper (NRL) gene with an eGFP transgene in the WA09 human embryonic stem cell (hESC) line. After confirming successful targeting, three-dimensional optic vesicle structures were produced to examine reporter specificity and to track rod differentiation in culture...
February 5, 2018: Scientific Reports
Nina B Radford, Laura F DeFina, David Leonard, Carolyn E Barlow, Benjamin L Willis, Larry W Gibbons, Susan C Gilchrist, Amit Khera, Benjamin D Levine
Background -A robust literature demonstrates that coronary artery calcification (CAC) and cardiorespiratory fitness (CRF) are independent predictors of cardiovascular disease (CVD) events. Much less is known about the joint associations of CRF and CAC with CVD risk. In the setting of high CAC, high versus low CRF has been associated with decreased CVD events. The goal of this study was to assess the impact of continuous levels of CRF on CVD risk in the setting of increasing CAC burden. Methods -We studied 8,425 men without clinical CVD who underwent preventive medicine examinations that included an objective measurement of CRF and CAC between 1998-2007...
January 17, 2018: Circulation
Anton Tomšic, Yasmine L Hiemstra, Stephanie L van der Pas, Hein Putter, Michel I M Versteegh, Thomas J van Brakel, Nina Ajmone Marsan, Robert J M Klautz, Meindert Palmen
OBJECTIVES: Following mitral valve repair for Barlow's disease, recurrent mitral regurgitation (MR) is believed to occur frequently and is mainly attributed to disease progression. METHODS: Between January 2000 and December 2015, 180 patients (40% women, mean age 58.7 ± 13.5 years) with Barlow's disease underwent mitral valve repair. To provide a longitudinal assessment of mitral valve repair durability, a multistate model for interval-censored observations (4 states: 1, Grade 0/1+ MR; 2, Grade 2+ MR; 3, Grade 3+/4+ MR; 4, reintervention/death) was developed...
January 10, 2018: Interactive Cardiovascular and Thoracic Surgery
Anmar A Khan, Piyushkumar A Mundra, Nora E Straznicky, Paul J Nestel, Gerard Wong, Ricardo Tan, Kevin Huynh, Theodore W Ng, Natalie A Mellett, Jacquelyn M Weir, Christopher K Barlow, Zahir H Alshehry, Gavin W Lambert, Bronwyn A Kingwell, Peter J Meikle
OBJECTIVE: High-density lipoprotein (HDL) lipid composition and function may better reflect cardiovascular risk than HDL cholesterol concentration. This study characterized the relationships between HDL composition, metabolism, and function in metabolic syndrome (MetS) patients and how changes in composition after weight loss (WL) and exercise treatments are related to function. APPROACH AND RESULTS: Plasma samples from MetS patients (n=95) and healthy individuals (n=40) were used in this study...
December 28, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
Srinidi Mohan, Ian Greenstein, Cathy Ng, Kelly Frazier, Giang Nguyen, Lisa Harding, David Barlow
In our prior study we identified N w-hydroxy-L-arginine (NOHA) as a simple, yet sensitive indicator for estrogen negative (ER-) breast cancer early-prognosis, but not estrogen positive (ER+), and to offer ethnic selectivity for ER- detection. However, the ability of NOHA to assess ER- breast tumor based on disease progression, and tumor severity needs further delineation. Also, the overall NOHA storage stability needs to be validated. To assess the NOHA predictive capability based on disease progression, ER-/ER+ 3D-spheroids (from breast tumor cell lines of human origin) were cultured for 10 weeks...
December 19, 2017: Amino Acids
Guy E Thwaites, Matthew Scarborough, Alexander Szubert, Emmanuel Nsutebu, Robert Tilley, Julia Greig, Sarah A Wyllie, Peter Wilson, Cressida Auckland, Janet Cairns, Denise Ward, Pankaj Lal, Achyut Guleri, Neil Jenkins, Julian Sutton, Martin Wiselka, Gonzalez-Ruiz Armando, Clive Graham, Paul R Chadwick, Gavin Barlow, N Claire Gordon, Bernadette Young, Sarah Meisner, Paul McWhinney, David A Price, David Harvey, Deepa Nayar, Dakshika Jeyaratnam, Tim Planche, Jane Minton, Fleur Hudson, Susan Hopkins, John Williams, M Estee Török, Martin J Llewelyn, Jonathan D Edgeworth, A Sarah Walker
BACKGROUND: Staphylococcus aureus bacteraemia is a common cause of severe community-acquired and hospital-acquired infection worldwide. We tested the hypothesis that adjunctive rifampicin would reduce bacteriologically confirmed treatment failure or disease recurrence, or death, by enhancing early S aureus killing, sterilising infected foci and blood faster, and reducing risks of dissemination and metastatic infection. METHODS: In this multicentre, randomised, double-blind, placebo-controlled trial, adults (≥18 years) with S aureus bacteraemia who had received ≤96 h of active antibiotic therapy were recruited from 29 UK hospitals...
December 14, 2017: Lancet
Tarek S Absi, Cristi L Galindo, Richard J Gumina, James Atkinson, Yan Guo, Kelsey Tomasek, Douglas B Sawyer, John G Byrne, Clayton A Kaiser, Ashish S Shah, Yan Ru Su, Michael Petracek
BACKGROUND: We hypothesized that gene expression profiles of mitral valve (MV) leaflets from Barlow's disease (BD) subjects are distinct from those with fibroelastic deficiency (FED). METHODS: MVs were obtained from subjects with BD (7 males, 3 females; 61.4 ± 12.7 years old) or FED (6 males, 5 females; 54.5 ± 6.0 years old) undergoing surgery for severe mitral regurgitation (MR). Normal MVs were obtained from 6 donor hearts unmatched for transplant (3 males, 3 females; 58...
December 14, 2017: Annals of Thoracic Surgery
Derek A Drechsel, Christy A Barlow, Jennifer L Bare, Neva F Jacobs, John L Henshaw
Talc has been used historically in a wide range of industrial applications and consumer products. The composition and purity of talc used for industrial purposes can vary greatly depending on the source and may contain asbestos minerals. The developing science associated with the health risks of asbestos had an effect on the talc industry throughout the 20th century. This review presents a detailed analysis of the evolution of regulatory standards impacting the use of industrial talc in the U.S. from the early 20th century through the 1990s...
February 2018: Regulatory Toxicology and Pharmacology: RTP
Jonathan P Barlow, Thomas P J Solomon
Skeletal muscle is an endocrine organ that secretes a variety of compounds including proteins (myokines), metabolites, microRNAs (miRNAs) and exosomes. Many of which are regulated by exercise and play important roles in endocrine signaling. Inter-organ communication via muscle-secreted factors therefore provides a novel area for investigation and implicates the importance of skeletal muscle in the pathophysiology of metabolic diseases such as type 2 diabetes (T2D). Given that underlying molecular mechanisms of T2D is subject of ongoing research, in light of new evidence, it is probable that inter-organ crosstalk between skeletal muscle and pancreatic beta-cells (β-cells) plays an important part...
December 5, 2017: American Journal of Physiology. Endocrinology and Metabolism
Anton Tomšic, Yasmine L Hiemstra, Daniella D Bissessar, Thomas J van Brakel, Michel I M Versteegh, Nina Ajmone Marsan, Robert J M Klautz, Meindert Palmen
OBJECTIVES: Barlow's disease is the most severe form of degenerative mitral valve disease, commonly characterized by bileaflet prolapse. Abnormal mitral annular dynamics is typically present and results in functional prolapse of the mitral leaflets that may be addressed with annular stabilization alone. METHODS: Between January 2001 and December 2015, 128 patients with Barlow's disease and bileaflet prolapse underwent valve repair. This included anterior mitral valve leaflet (AMVL) repair in 70 patients, whereas 58 patients were identified as having functional prolapse and underwent no specific AMVL repair...
November 27, 2017: Interactive Cardiovascular and Thoracic Surgery
Stephen W Farrell, Carrie E Finley, Carolyn E Barlow, Benjamin L Willis, Laura F DeFina, William L Haskell, Gloria L Vega
OBJECTIVE: To examine the prospective relationships among cardiorespiratory fitness (CRF), fasting blood triglyceride to high density lipoprotein cholesterol ratio (TG:HDL-C), and coronary heart disease (CHD) mortality in men. METHODS: A total of 40,269 men received a comprehensive baseline clinical examination between January 1, 1978, and December 31, 2010. Their CRF was determined from a maximal treadmill exercise test. Participants were divided into CRF categories of low, moderate, and high fit by age group and by TG:HDL-C quartiles...
December 2017: Mayo Clinic Proceedings
Zain Khalpey, Badi Rawashdeh, Toshinobu Kazui, Scott Lick
Mitral valve repair is a feasible and preferable option for the treatment of Barlow's disease. Complex valve repair techniques, in contrast, often lead to increased cross-clamp times and low cardiac output syndrome. A simple, fast, and reproducible foldoplasty technique to reduce anterior and posterior mitral leaflet heights may improve coaptation and reduce mitral regurgitation. Accordingly, herein are described minimally invasive, successful trans-septal and robotic approaches for a bileaflet foldoplasty technique in two patients with Barlow's disease...
May 2017: Journal of Heart Valve Disease
Greg R Markby, Kim M Summers, Vicky E MacRae, Brendan M Corcoran
Myxomatous mitral valve disease is the single most important mitral valve disease in both dogs and humans. In the case of the dog it is ubiquitous, such that all aged dogs will have some evidence of the disease, and for humans it is known as Barlow's disease and affects up to 3% of the population, with an expected increase in prevalence as the population ages. Disease in the two species show many similarities and while both have the classic myxomatous degeneration only in humans is there extensive fibrosis...
July 17, 2017: Veterinary Sciences
Adrian Mellor, J Bakker-Dyos, M Howard, C Boos, M Cooke, E Vincent, P Scott, J O'Hara, S B Clarke, M Barlow, J Matu, K Deighton, N Hill, C Newman, R Cruttenden, D Holdsworth, D Woods
INTRODUCTION: High-altitude environments lead to a significant physiological challenge and disease processes which can be life threatening; operational effectiveness at high altitude can be severely compromised. The UK military research is investigating ways of mitigating the physiological effects of high altitude. METHODS: The British Service Dhaulagiri Research Expedition took place from March to May 2016, and the military personnel were invited to consent to a variety of study protocols investigating adaptation to high altitudes and diagnosis of high-altitude illness...
December 2017: Journal of the Royal Army Medical Corps
Ruth A Bush, Cynthia D Connelly, Alexa Pérez, Halsey Barlow, George J Chiang
BACKGROUND: Little is known about the health care utilization patterns of individuals with pediatric autism spectrum disorder (ASD). OBJECTIVES: Electronic health record (EHR) data provide an opportunity to study medical utilization and track outcomes among children with ASD.  Methods: Using a pediatric, tertiary, academic hospital's Epic EHR, search queries were built to identify individuals aged 2-18 with International Classification of Diseases, Ninth Revision (ICD-9) codes, 299...
July 19, 2017: Applied Clinical Informatics
Jonathan L Temte, Shari Barlow, Amber Schemmel, Emily Temte, David L Hahn, Erik Reisdorf, Peter Shult, John Tamerius
INTRODUCTION: The goal of public health infectious disease surveillance systems is to provide accurate laboratory results in near-real time. When it comes to influenza surveillance, most current systems are encumbered with inherent delays encountered in the real-life chaos of medical practice. To combat this, we implemented and tested near-real-time surveillance using a rapid influenza detection test (RIDT) coupled with immediate, wireless transmission of results to public health entities...
September 2017: Journal of the American Board of Family Medicine: JABFM
Nilay S Shah, David Leonard, Carrie E Finley, Fatima Rodriguez, Ashish Sarraju, Carolyn E Barlow, Laura F DeFina, Benjamin L Willis, William L Haskell, David J Maron
BACKGROUND: Dietary patterns are related to mortality in selected populations with comorbidities. We studied whether dietary patterns are associated with long-term survival in a middle-aged, healthy population. METHODS: In this observational cohort study at the Cooper Clinic preventive medicine center (Dallas, Tex), a volunteer sample of 11,376 men and women with no history of myocardial infarction or stroke completed a baseline dietary assessment between 1987 and 1999 and were observed for an average of 18 years...
January 2018: American Journal of Medicine
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