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https://www.readbyqxmd.com/read/29652076/systematic-reanalysis-of-genomic-data-improves-quality-of-variant-interpretation
#1
S M Hiatt, M D Amaral, K M Bowling, C R Finnila, M L Thompson, D E Gray, J M J Lawlor, J Nicholas Cochran, E Martina Bebin, K B Brothers, K M East, W V Kelley, N E Lamb, S E Levy, E J Lose, M B Neu, C A Rich, S Simmons, R M Myers, G S Barsh, G M Cooper
As genomic sequencing expands, so does our knowledge of the link between genetic variation and disease. Deeper catalogs of variant frequencies improve identification of benign variants, while sequencing affected individuals reveals disease-associated variation. Accumulation of human genetic data thus makes reanalysis a means to maximize benefits of clinical sequencing. We implemented pipelines to systematically reassess sequencing data from 494 individuals with developmental disability. Reanalysis yielded pathogenic or likely pathogenic (P/LP) variants in six individuals who initially had no P/LP variants, a 16% increase to P/LP yield...
April 13, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29651169/persistence-of-bowl-water-contamination-during-sequential-flushes-of-contaminated-toilets
#2
David L Johnson, Robert A Lynch, Stephanie M Villanella, Jacob F Jones, Haiqin Fang, Kenneth R Mead, Deborah V L Hirst
Toilets contaminated with infectious organisms are a recognized contact disease transmission hazard. Previous studies indicate that toilet bowl water can remain contaminated for several flushes after the contamination occurs. This study characterized contamination persistence over an extended series of flushes using both indicator particles and viable bacteria. For this study, toilets were seeded with microbe-size microbial surrogates and with Pseudomonas fluorescens or Clostridium difficile bacteria and flushed up to 24 times...
October 2017: Journal of Environmental Health
https://www.readbyqxmd.com/read/29621362/long-term-accuracy-of-breast-cancer-risk-assessment-combining-classic-risk-factors-and-breast-density
#3
Adam R Brentnall, Jack Cuzick, Diana S M Buist, Erin J Aiello Bowles
Importance: Accurate long-term breast cancer risk assessment for women attending routine screening could help reduce the disease burden and intervention-associated harms by personalizing screening recommendations and preventive interventions. Objective: To report the accuracy of risk assessment for breast cancer during a period of 19 years. Design, Setting, and Participants: This cohort study of the Kaiser Permanente Washington breast imaging registry included women without previous breast cancer, aged 40 to 73 years, who attended screening from January 1, 1996, through December 31, 2013...
April 5, 2018: JAMA Oncology
https://www.readbyqxmd.com/read/29543903/an-automated-system-for-rapid-cellular-extraction-from-live-zebrafish-embryos-and-larvae-development-and-application-to-genotyping
#4
Christopher J Lambert, Briana C Freshner, Arlen Chung, Tamara J Stevenson, D Miranda Bowles, Raheel Samuel, Bruce K Gale, Joshua L Bonkowsky
Zebrafish are a valuable model organism in biomedical research. Their rapid development, ability to model human diseases, utility for testing genetic variants identified from next-generation sequencing, amenity to CRISPR mutagenesis, and potential for therapeutic compound screening, has led to their wide-spread adoption in diverse fields of study. However, their power for large-scale screens is limited by the absence of automated genotyping tools for live animals. This constrains potential drug screen options, limits analysis of embryonic and larval phenotypes, and requires raising additional animals to adulthood to ensure obtaining an animal of the desired genotype...
2018: PloS One
https://www.readbyqxmd.com/read/29534751/adipose-stromal-vascular-fraction-attenuates-t-h-1-cell-mediated-pathology-in-a-model-of-multiple-sclerosis
#5
Annie C Bowles, Rachel M Wise, Brittany Y Gerstein, Robert C Thomas, Roberto Ogelman, Regan C Manayan, Bruce A Bunnell
BACKGROUND: The therapeutic efficacy of adipose-derived stem cells (ASCs) has been investigated for numerous clinical indications, including autoimmune and neurodegenerative diseases. Less is known using the crude adipose product called stromal vascular fraction (SVF) as therapy, although our previous studies demonstrated greater efficacy at late-stage disease compared to ASCs in the experimental autoimmune encephalomyelitis (EAE) mouse, a model of multiple sclerosis. In this study, SVF cells and ASCs were administered during the pathogenic progression, designated as early disease, to elucidate immunomodulatory mechanisms when high immune cell activities associated with autoimmune signaling occur...
March 13, 2018: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29527496/white-matter-hyperintensity-and-stroke-lesion-segmentation-and-differentiation-using-convolutional-neural-networks
#6
R Guerrero, C Qin, O Oktay, C Bowles, L Chen, R Joules, R Wolz, M C Valdés-Hernández, D A Dickie, J Wardlaw, D Rueckert
White matter hyperintensities (WMH) are a feature of sporadic small vessel disease also frequently observed in magnetic resonance images (MRI) of healthy elderly subjects. The accurate assessment of WMH burden is of crucial importance for epidemiological studies to determine association between WMHs, cognitive and clinical data; their causes, and the effects of new treatments in randomized trials. The manual delineation of WMHs is a very tedious, costly and time consuming process, that needs to be carried out by an expert annotator (e...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29522810/vascular-complications-in-the-sapien-3-era-continued-role-of-transapical-approach-to-tavr
#7
W Toppen, W Suh, O Aksoy, P Benharash, C Bowles, R J Shemin, M Kwon
OBJECTIVE: With the introduction of the latest generation Sapien 3 transcatheter aortic valve, there has been a reduction in the usage of transapical (TA) approach for TAVRs in many centers. However, despite the smaller sheath size and more stream-lined delivery system, vascular complications continue to occur, especially in patients with peripheral vascular disease. Thus, our institution has maintained a stringent TA protocol aiming to prevent these complications. We hypothesize that this protocol has helped to reduce vascular complications and improve outcomes at our institution even in the Sapien 3 era...
March 6, 2018: Seminars in Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29511059/association-of-serious-fall-injuries-among-united-states-end-stage-kidney-disease-patients-with-access-to-kidney-transplantation
#8
Laura C Plantinga, Raymond J Lynch, Rachel E Patzer, Stephen O Pastan, C Barrett Bowling
BACKGROUND AND OBJECTIVES: Serious fall injuries in the setting of ESKD may be associated with poor access to kidney transplant. We explored the burden of serious fall injuries among patients on dialysis and patients on the deceased donor waitlist and the associations of these fall injuries with waitlisting and transplantation. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Our analytic cohorts for the outcomes of ( 1 ) waitlisting and ( 2 ) transplantation included United States adults ages 18-80 years old who ( 1 ) initiated dialysis ( n =183,047) and ( 2 ) were waitlisted for the first time ( n =37,752) in 2010-2013...
April 6, 2018: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29504899/candidate-snp-markers-of-reproductive-potential-are-predicted-by-a-significant-change-in-the-affinity-of-tata-binding-protein-for-human-gene-promoters
#9
Irina V Chadaeva, Petr M Ponomarenko, Dmitry A Rasskazov, Ekaterina B Sharypova, Elena V Kashina, Dmitry A Zhechev, Irina A Drachkova, Olga V Arkova, Ludmila K Savinkova, Mikhail P Ponomarenko, Nikolay A Kolchanov, Ludmila V Osadchuk, Alexandr V Osadchuk
BACKGROUND: The progress of medicine, science, technology, education, and culture improves, year by year, quality of life and life expectancy of the populace. The modern human has a chance to further improve the quality and duration of his/her life and the lives of his/her loved ones by bringing their lifestyle in line with their sequenced individual genomes. With this in mind, one of genome-based developments at the junction of personalized medicine and bioinformatics will be considered in this work, where we used two Web services: (i) SNP_TATA_Comparator to search for alleles with a single nucleotide polymorphism (SNP) that alters the affinity of TATA-binding protein (TBP) for the TATA boxes of human gene promoters and (ii) PubMed to look for retrospective clinical reviews on changes in physiological indicators of reproductive potential in carriers of these alleles...
February 9, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29486779/response-criteria-in-solid-tumors-percist-recist-and-suv-max-in-early-stage-non-small-cell-lung-cancer-patients-treated-with-stereotactic-body-radiotherapy
#10
Cory Pierson, Taras Grinchak, Casey Sokolovic, Brandi Holland, Teresa Parent, Mark Bowling, Hyder Arastu, Paul Walker, Andrew Ju
BACKGROUND: The purpose of this study was to evaluate the prognostic impact of Positron Emission Tomography Response Criteria in Solid Tumors (PERCIST) and Response Evaluation Criteria in Solid Tumors (RECIST) and of pre- and post-treatment maximum Standard Uptake Value (SUVmax ) in regards to survival and tumor control for patients treated for early-stage non-small cell lung cancer (ES-NSCLC) with stereotactic body radiotherapy (SBRT). METHODS: This is a retrospective review of patients with ES-NSCLC treated at our institution using SBRT...
February 27, 2018: Radiation Oncology
https://www.readbyqxmd.com/read/29458291/local-antibiotic-delivery-systems-current-and-future-applications-for-diabetic-foot-infections
#11
Konstantinos Markakis, Alan Robert Faris, Hamed Sharaf, Barzo Faris, Sharon Rees, Frank L Bowling
Foot infections are common among diabetic patients with peripheral neuropathy and/or peripheral arterial disease, and it can be the pivotal event leading to a minor or major amputation of the lower extremity. Treatment of diabetic foot infections, especially deep-seated ones, remains challenging, in part because impaired blood perfusion and the presence of biofilms can impair the effectiveness of systemic antibiotics. The local application of antibiotics is an emerging field in the treatment of diabetic foot infections, with demonstrable advantages...
February 1, 2018: International Journal of Lower Extremity Wounds
https://www.readbyqxmd.com/read/29449068/chemokines-beyond-chemo-attraction-cxcl10-and-its-significant-role-in-cancer-and-autoimmunity
#12
Nathan Karin, Hila Razon
Chemokines are mostly known for their chemotactic properties, and less for their ability to direct the biological function of target cells, including T cells. The current review focuses on a key chemokine named CXCL10 and its role in directing the migratory propertied and biological function of CD4+ and CD8+ T cells in the context of cancer and inflammatory autoimmunity. CXCR3 is a chemokine receptor that is abundant on CD4+ T cells, CD8+ T cells and NK cells. It has three known ligands: CXCL9, CXCL10 and CXCL11...
February 12, 2018: Cytokine
https://www.readbyqxmd.com/read/29381986/st-segment-elevation-associated-with-hydrochloric-acid-ingestion-a-case-report
#13
I-Jeng Yeh, Kuan-Ting Liu
RATIONALE: Electrocardiography (ECG) was used to diagnose acute coronary syndrome, but many other diseases may also result in ST segment change. We report one case of ingested hydrochloric acid present with ST segment elevation in the ECG. However, subsequent coronary angiography did not reveal significant coronary occlusion. PATIENT CONCERNS: An 83-year-old female was transferred to our emergency department (ED) from the branch hospital due to ingestion of toilet bowl cleaner containing 9...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29346522/serious-fall-injury-history-and-adverse-health-outcomes-after-initiating-hemodialysis-among-older-u-s-adults
#14
C Barrett Bowling, Rasheeda Hall, Anjali Khakharia, Harold A Franch, Laura C Plantinga
Background: Although older adults with pre-dialysis chronic kidney disease (CKD) are at higher risk for falls, the prognostic significance of a serious fall injury prior to dialysis initiation has not been well described in the end-stage renal disease population. Methods: We examined the association between a serious fall injury in the year prior to starting hemodialysis and adverse health outcomes in the year following dialysis initiation using a retrospective cohort study of U...
January 16, 2018: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/29316024/fully-automated-segmentation-of-the-left-ventricle-in-cine-cardiac-mri-using-neural-network-regression
#15
Li Kuo Tan, Robert A McLaughlin, Einly Lim, Yang Faridah Abdul Aziz, Yih Miin Liew
BACKGROUND: Left ventricle (LV) structure and functions are the primary assessment performed in most clinical cardiac MRI protocols. Fully automated LV segmentation might improve the efficiency and reproducibility of clinical assessment. PURPOSE: To develop and validate a fully automated neural network regression-based algorithm for segmentation of the LV in cardiac MRI, with full coverage from apex to base across all cardiac phases, utilizing both short axis (SA) and long axis (LA) scans...
January 9, 2018: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/29182894/evaluating-the-evidence-for-more-frequent-than-annual-hiv-screening-of-gay-bisexual-and-other-men-who-have-sex-with-men-in-the-united-states-results-from-a-systematic-review-and-cdc-expert-consultation
#16
Elizabeth A DiNenno, Joseph Prejean, Kevin P Delaney, Kristina Bowles, Tricia Martin, Amrita Tailor, Gema Dumitru, Mary M Mullins, Angela Hutchinson, Amy Lansky
The Centers for Disease Control and Prevention (CDC) recommended in 2006 that sexually active gay, bisexual, and other men who have sex with men (MSM) be screened for human immunodeficiency virus (HIV) at least annually. A workgroup comprising CDC and external experts conducted a systematic review of the literature, including benefits, harms, acceptability, and feasibility of annual versus more frequent screening among MSM, to determine whether evidence was sufficient to change the current recommendation. Four consultations with managers of public and nonprofit HIV testing programs, clinics, and mathematical modeling experts were conducted to provide input on the programmatic and scientific evidence...
January 2018: Public Health Reports
https://www.readbyqxmd.com/read/29164169/tuberculosis-patients-who-are-a-potential-source-for-unprotected-exposure-in-health-care-systems-a-multicenter-case-control-study
#17
Jose Cadena, Norys A Castro-Pena, Heta Javeri, Brian Hernandez, Joel Michalek, Ana Fuentes Arzola, Miloni Shroff, Chetan Jinadatha, Gustavo Valero, Jason Bowling, Jean Przykucki, Michele Adams, James Jorgensen, Jan E Patterson, Pranavi Sreeramoju
Setting: Five health care systems in Texas. Objective: To describe the epidemiology of inadequate isolation for pulmonary tuberculosis leading to tuberculosis (TB) exposures from confirmed TB patients and the patient factors that led to the exposures. Design: A retrospective cohort and case-control study of adult patients with TB resulting in exposures (cases) vs those TB patients who did not result in exposures (controls) during January 2005 to December 2012...
2017: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/29158079/bone-metastases-as-the-only-metastatic-site-in-patients-with-urothelial-carcinoma-focus-on-a-special-patient-population
#18
Andrea Necchi, Gregory R Pond, Sumanta K Pal, Neeraj Agarwal, Daniel W Bowles, Elizabeth R Plimack, Evan Y Yu, Sylvain Ladoire, Jack Baniel, Simon Crabb, Gunter Niegisch, Sandy Srinivas, Dominik R Berthold, Jonathan E Rosenberg, Thomas Powles, Aristotelis Bamias, Lauren C Harshman, Joaquim Bellmunt, Matthew D Galsky
BACKGROUND: Patients with exclusive bone metastatic spread from urothelial carcinoma (UC) throughout their disease course represent a rare subgroup with unique clinical features. These patients deserved special consideration in a retrospective multicenter study. PATIENTS AND METHODS: Analyses were made from a pool of 1911 patients with a diagnosis of metastatic UC, from 23 centers. Baseline characteristics, access to treatment, and outcomes were analyzed according to metastatic spread...
November 1, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/29134629/proton-pump-inhibitor-use-and-dementia-risk-prospective-population-based-study
#19
Shelly L Gray, Rod L Walker, Sascha Dublin, Onchee Yu, Erin J Aiello Bowles, Melissa L Anderson, Paul K Crane, Eric B Larson
OBJECTIVES: To determine whether higher cumulative proton pump inhibitor (PPI) exposure is associated with greater dementia risk. DESIGN: Prospective population-based cohort study. SETTING: Kaiser Permanente Washington, an integrated healthcare delivery system in Seattle, Washington. PARTICIPANTS: Individuals aged 65 and older without dementia at study entry (N = 3,484). MEASUREMENTS: Participants were screened for dementia every 2 years, and those who screened positive underwent extensive evaluation...
February 2018: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/29121979/platelet-inhibition-during-ticagrelor-monotherapy-versus-ticagrelor-plus-aspirin-in-patients-with-coronary-artery-disease-template-study-study-protocol-for-a-randomised-controlled-trial
#20
Sarah Baos, Wendy Underwood, Lucy Culliford, Barnaby C Reeves, Chris A Rogers, Ruth Bowles, Tom Johnson, Andreas Baumbach, Andrew Mumford
BACKGROUND: Dual antiplatelet therapy (DAPT) with aspirin (ASP) and a P2Y12 blocker is currently standard care after percutaneous coronary intervention (PCI) with stent insertion, and aims to inhibit platelet function in order to prevent stent thrombosis. The P2Y12 blocker ticagrelor (TIC) has greater antiplatelet effect than the previously used members of this class, such as clopidogrel. In healthy volunteers, TIC is sufficient to cause strong platelet inhibition, with little additional effect from ASP...
November 9, 2017: Trials
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