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https://www.readbyqxmd.com/read/28324114/novel-25-kb-deletion-of-mertk-causes-retinitis-pigmentosa-with-severe-progression
#1
Daniel R Evans, Jane S Green, Gordon J Johnson, Jeremy Schwartzentruber, Jacek Majewski, Chandree L Beaulieu, Wen Qin, Christian R Marshall, Tara A Paton, Nicole M Roslin, Andrew D Paterson, Somayyeh Fahiminiya, Justin French, Kym M Boycott, Michael O Woods
Purpose: Retinitis pigmentosa (RP) describes a complex group of inherited retinal dystrophies with almost 300 reported genes and loci. We investigated the genetic etiology of autosomal recessive RP (arRP) in a large kindred with 5 affected family members, who reside on the island of Newfoundland, Canada. Methods: Genetic linkage analysis was performed on 12 family members (Infinium HumanOmni2.5-8 BeadChip). Whole exome sequencing analysis (Illumina HiSeq) was performed on one affected individual...
March 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28324033/effect-of-moxonidine-on-the-aldosterone-renin-ratio-in-healthy-male-volunteers
#2
Ashraf H Ahmed, Richard D Gordon, Gregory Ward, Martin Wolley, Brett C McWhinney, Jacobus P Ungerer, Michael Stowasser
Background: The most popular screening test for primary aldosteronism (PA) is the plasma aldosterone/ renin ratio (ARR). Medications, dietary sodium, posture and time of day all affect renin and aldosterone levels, and can result in false negative or positive ARRs if not controlled. Most antihypertensive medications affect the ARR and can interfere with interpretation of results. To our knowledge, no study has been undertaken to evaluate the effects of moxonidine on the ARR. Methods: Normotensive, non-medicated male volunteers (n=20) underwent measurement (seated, midmorning) of plasma aldosterone (by HPLC-tandem mass spectrometry), direct renin concentration (DRC), renin activity (PRA), cortisol, electrolytes and creatinine and urinary aldosterone, cortisol, electrolytes and creatinine at baseline, and after one week of moxonidine at 0...
March 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323995/renin-phenotypes-characterize-vascular-disease-autonomous-aldosteronism-and-mineralocorticoid-receptor-activity
#3
Gregory L Hundemer, Rene Baudrand, Jenifer M Brown, Gary Curhan, Gordon H Williams, Anand Vaidya
Context: Mild cases of autonomous aldosterone secretion may go unrecognized using current diagnostic criteria for primary aldosteronism (PA). Objective: To investigate whether the inability to stimulate renin serves as a biomarker for unrecognized autonomous aldosterone secretion and mineralocorticoid receptor (MR) activation. Participants: 663 normotensive and mildly hypertensive participants, who were confirmed to not have PA using current guideline criteria and were on no antihypertensive medications...
February 17, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323796/a-prospective-randomized-trial-to-assess-fixation-strategies-for-severe-open-tibia-fractures-modern-ring-external-fixators-versus-internal-fixation-fixit-study
#4
Robert V OʼToole, Joshua L Gary, Lisa Reider, Michael J Bosse, Wade T Gordon, James Hutson, Stephen M Quinnan, Renan C Castillo, Daniel O Scharfstein, Ellen J MacKenzie
The treatment of high-energy open tibia fractures is challenging in both the military and civilian environments. Treatment with modern ring external fixation may reduce complications common in these patients. However, no study has rigorously compared outcomes of modern ring external fixation with commonly used internal fixation approaches. The FIXIT study is a prospective, multicenter randomized trial comparing 1-year outcomes after treatment of severe open tibial shaft fractures with modern external ring fixation versus internal fixation among men and women of ages 18-64...
April 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28323702/effect-of-an-outer-sleeve-on-an-inflatable-balloon-tamp-in-terms-of-height-restoration-under-simulated-physiological-load
#5
Walter C Peppelman, William Beutler, Michael Gordon, Suresh R Chintakunta, Damien O'Halloran, Brandon Bucklen
STUDY DESIGN: An in vitro biomechanical study. OBJECTIVE: The aim of this study was to determine the effect of an optional sleeve on height restoration and compare it with the fracture reduction achieved by a commercially available inflatable bone tamp under simulated physiological load (110 N). SUMMARY OF BACKGROUND DATA: Loss of reduction after bone tamp deflation before cement injection still remains a concern. The optional sleeve surrounds the bone tamp to help maintain height during the kyphoplasty procedure while filling the created cavity with bone cement on the contralateral side...
April 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28323590/the-ecology-of-medical-care-among-israeli-military-aviators
#6
Barak Gordon, Yuval Levy, Tal Yemini, Erez Carmon, Yifat Erlich, Doron Hermoni
BACKGROUND: The ecology of medical care model has been used in various populations with varying results. We aimed to apply this model in the population of Israeli Air Force (IAF) aviators. METHODS: An anonymous questionnaire was presented to all Israeli Air Force aviators during their mandatory yearly check-up over 1 yr starting on November 26th, 2012. The questionnaire contained items on demographic, personal, and military details, as well as items on the presence of clinical symptoms, and various health care contacts in the previous month...
December 1, 2016: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/28319974/practitioner-application
#7
Gordon B Wesley
No abstract text is available yet for this article.
September 2016: Journal of Healthcare Management / American College of Healthcare Executives
https://www.readbyqxmd.com/read/28319065/the-drebrin-eb3-pathway-drives-invasive-activity-in-prostate-cancer
#8
A E Dart, D C Worth, G Muir, A Chandra, J D Morris, C McKee, C Verrill, R J Bryant, P R Gordon-Weeks
Prostate cancer is the most common cancer in men and the metastatic form of the disease is incurable. We show here that the drebrin/EB3 pathway, which co-ordinates dynamic microtubule/actin filament interactions underlying cell shape changes in response to guidance cues, plays a role in prostate cancer cell invasion. Drebrin expression is restricted to basal epithelial cells in benign human prostate but is upregulated in luminal epithelial cells in foci of prostatic malignancy. Drebrin is also upregulated in human prostate cancer cell lines and co-localizes with actin filaments and dynamic microtubules in filopodia of pseudopods of invading cells under a chemotactic gradient of the chemokine CXCL12...
March 20, 2017: Oncogene
https://www.readbyqxmd.com/read/28318003/small-molecule-hedgehog-pathway-antagonists
#9
Trieu N Trinh, Eileen A McLaughlin, Christopher P Gordon, Ilana R Bernstein, Victoria J Pye, Kate A Redgrove, Adam McCluskey
Leveraging our quinolone-1-(2H)-one based Hedgehog signalling pathway (HSP) inhibitors we have developed two new classes of HSP inhibitors based on: l-tryptophan and benzo[1,3]dioxol-5-ylmethyl-[2-(1H-indol-3-yl)-ethyl]-amine. Synthesis of focused compound libraries identified six l-tryptophan based inhibitors, and two stimulators, of Gli at 10 μM compound concentration. 2,4-Dichloro-13 and indole 16 suppressed mRNA expression of Ptch1 in Shh LIGHT2 cells, with 13 suppressing and 16 stimulating Gli2 mRNA expression...
March 20, 2017: Organic & Biomolecular Chemistry
https://www.readbyqxmd.com/read/28317311/novel-pathogenic-variants-in-foxp3-in-fetuses-with-echogenic-bowel-and-skin-desquamation-identified-by-ultrasound
#10
Raymond J Louie, Queenie K-G Tan, Jennifer B Gilner, R Curtis Rogers, Noelle Younge, Stephanie B Wechsler, Marie T McDonald, Barbara Gordon, Christopher A Saski, Julie R Jones, Shelley J Chapman, Roger E Stevenson, John W Sleasman, Michael J Friez
Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome is a rare, X-linked recessive disease that affects regulatory T cells (Tregs) resulting in diarrhea, enteropathy, eczema, and insulin-dependent diabetes mellitus. IPEX syndrome is caused by pathogenic alterations in FOXP3 located at Xp11.23. FOXP3 encodes a transcription factor that interacts with several partners, including NFAT and NF-κB, and is necessary for the proper cellular differentiation of Tregs. Although variable, the vast majority of IPEX syndrome patients have onset of disease during infancy with severe enteropathy...
March 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28316347/on-semidiscrete-constant-mean-curvature-surfaces-and-their-associated-families
#11
Wolfgang Carl
The present paper studies semidiscrete surfaces in three-dimensional Euclidean space within the framework of integrable systems. In particular, we investigate semidiscrete surfaces with constant mean curvature along with their associated families. The notion of mean curvature introduced in this paper is motivated by a recently developed curvature theory for quadrilateral meshes equipped with unit normal vectors at the vertices, and extends previous work on semidiscrete surfaces. In the situation of vanishing mean curvature, the associated families are defined via a Weierstrass representation...
2017: Monatshefte Für Mathematik
https://www.readbyqxmd.com/read/28315880/an-analytic-solution-to-the-computation-of-power-and-sample-size-for-genetic-association-studies-under-a-pleiotropic-mode-of-inheritance
#12
Derek Gordon, Douglas Londono, Payal Patel, Wonkuk Kim, Stephen J Finch, Gary A Heiman
Our motivation here is to calculate the power of 3 statistical tests used when there are genetic traits that operate under a pleiotropic mode of inheritance and when qualitative phenotypes are defined by use of thresholds for the multiple quantitative phenotypes. Specifically, we formulate a multivariate function that provides the probability that an individual has a vector of specific quantitative trait values conditional on having a risk locus genotype, and we apply thresholds to define qualitative phenotypes (affected, unaffected) and compute penetrances and conditional genotype frequencies based on the multivariate function...
March 18, 2017: Human Heredity
https://www.readbyqxmd.com/read/28315803/cranioplasty-complications-and-costs-a-national-population-level-analysis-using-the-marketscan-longitudinal-database
#13
Amy Li, Tej Deepak Azad, Anand Veeravagu, Inderpreet Bhatti, Chao Long, John K Ratliff, Gordon Li
OBJECTIVE: To characterize cranioplasty complications and costs at a population level using a longitudinal national claims database. METHODS: We identified cranioplasty patients between 2007-2014 in the MarketScan national database. We evaluated age, autograft usage, cranioplasty size, and cranioplasty timing on postoperative outcomes. We further analyzed associated costs. A subset analysis of adult cranioplasty patients with emergent indications, including stroke and trauma, was also performed...
March 15, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28315786/effects-of-bariatric-surgery-on-female-pelvic-floor-disorders
#14
Avner Leshem, Mordechai Shimonov, Hadar Amir, David Gordon, Asnat Groutz
OBJECTIVES: To assess the effect of weight loss on urinary incontinence (UI), pelvic organ prolapse, colorectal-anal complaints and sexual dysfunction among obese women undergoing bariatric surgery. METHODS: 160 consecutive women who underwent bariatric surgery were prospectively enrolled. Four validated questionnaires (ICIQ-UI, BFLUTS-SF, PFDI-20, PISQ-12) were used to evaluate pelvic floor disorders and sexual dysfunction before, and 3-6 months after surgery. RESULTS: 150 participants (mean age 43±12...
March 15, 2017: Urology
https://www.readbyqxmd.com/read/28315647/a-device-that-allows-rodents-to-behaviorally-thermoregulate-when-housed-in-vivariums
#15
Christopher J Gordon, Earl T Puckett, Elizabeth S Repasky, Andrew F M Johnstone
Laboratories and vivariums typically are maintained at ambient temperatures of 20 to 24 °C, leading to cold stress in mice. When mice are inactive and sleeping during the light phase, their zone of thermoneutrality associated with a basal metabolic rate is 30 to 32 °C. If given a choice, mice will use thermoregulatory behavior to seek out thermoneutral temperatures during the light phase. The cold stress of a vivarium can be problematic to researchers requiring an animal model that is not stressed metabolically...
March 1, 2017: Journal of the American Association for Laboratory Animal Science: JAALAS
https://www.readbyqxmd.com/read/28315555/checkpoint-inhibitors-common-immune-related-adverse-events-and-their-management%C3%A2
#16
RuthAnn Gordon, Mary Kate Kasler, Kristen Stasi, Yelena Shames, Mimma Errante, Kathryn Ciccolini, Anna Skripnik Lucas, Pam Raasch, Erica Fischer-Cartlidge
BACKGROUND: Immunotherapy, specifically the use of checkpoint inhibitors, offers patients with cancer an alternative to chemotherapy, targeting different pathways to destroy cancer cells. The side effects of immunotherapies, as well as their impact on normal tissue, need to be assessed and managed based on their mechanisms of action. OBJECTIVES: This article presents an overview of immune-related adverse events (AEs). 
. METHODS: Common immune-related toxicities, as well as rare and refractory toxicities, are reviewed...
April 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/28315485/quantifying-transcription-factor-binding-dynamics-at-the-single-molecule-level-in-live-cells
#17
Diego M Presman, David A Ball, Ville Paakinaho, Jonathan B Grimm, Luke D Lavis, Tatiana S Karpova, Gordon L Hager
Progressive, technological achievements in the quantitative fluorescence microscopy field are allowing researches from many different areas to start unraveling the dynamic intricacies of biological processes inside living cells. From super-resolution microscopy techniques to tracking of individual proteins, fluorescence microscopy is changing our perspective on how the cell works. Fortunately, a growing number of research groups are exploring single-molecule studies in living cells. However, no clear consensus exists on several key aspects of the technique such as image acquisition conditions, or analysis of the obtained data...
March 14, 2017: Methods: a Companion to Methods in Enzymology
https://www.readbyqxmd.com/read/28315179/decrements-in-health-related-quality-of-life-associated-with-gender-nonconformity-among-u-s-adolescents-and-young-adults
#18
Allegra R Gordon, Nancy Krieger, Cassandra A Okechukwu, Sebastien Haneuse, Mihail Samnaliev, Brittany M Charlton, S Bryn Austin
PURPOSE: Gender nonconformity, that is, transgressing conventionally "masculine" vs. "feminine" characteristics, is often stigmatized. Stigmatization and discrimination are social stressors that raise risk of adverse mental and physical health outcomes and may drive health inequities. However, little is known about the relationship between such social stressors and health-related quality of life (HRQOL). This paper aimed to examine associations between perceived gender nonconformity and HRQOL in a cohort of U...
March 17, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28314986/false-positive-synovial-fluid-alpha-defensin-test-in-a-patient-with-acute-gout-affecting-a-prosthetic-knee
#19
D G Partridge, A Gordon, R Townsend
The alpha-defensin test has demonstrated promising results in studies evaluating it for the diagnosis of prosthetic joint infection. There are limited data in the literature regarding its use in patients with other inflammatory joint conditions, but a high specificity for infection has been reported. We describe a patient with a prosthetic knee joint, who had a positive alpha-defensin lateral flow assay but in whom subsequent results confirmed a diagnosis of acute gout with no evidence of infection.
March 17, 2017: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
https://www.readbyqxmd.com/read/28314685/association-of-psoriasis-and-psoriatic-arthritis-with-osteoporosis-and-pathological-fractures
#20
Parul Kathuria, Kenneth B Gordon, Jonathan I Silverberg
BACKGROUND: Previous studies examining the relationship between psoriasis (Pso), osteoporosis, and pathological fractures found conflicting results. OBJECTIVE: To determine whether Pso and psoriatic arthritis (PsA) are associated with osteoporosis and fractures in US adults. METHODS: Cross-sectional study of 198,102,435 children and adults, including 183,725 with Pso and 28,765 with PsA from the 2006-2012 National Emergency Department Sample, including 20% of the emergency care visits throughout the United States...
March 14, 2017: Journal of the American Academy of Dermatology
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