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https://www.readbyqxmd.com/read/29781739/preimplantation-genetic-diagnosis-as-a-strategy-to-prevent-having-a-child-born-with-an-heritable-eye-disease
#1
Claudia Yahalom, Michal Macarov, Galit Lazer-Derbeko, Gheona Altarescu, Tal Imbar, Jordana H Hyman, Talia Eldar-Geva, Anat Blumenfeld
BACKGROUND: In developed countries, genetically inherited eye diseases are responsible for a high percentage of childhood visual impairment. We aim to report our experience using preimplantation genetic diagnostics (PGD) in order to avoid transmitting a genetic form of eye disease associated with childhood visual impairment and ocular cancer. MATERIAL AND METHODS: Retrospective case series of women who underwent in vitro fertilization (IVF) and PGD due to a familial history of inherited eye disease and/or ocular cancer, in order to avoid having a child affected with the known familial disease...
May 21, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29758324/exertional-abdominal-pain-as-a-rare-presenting-manifestation-of-chronic-mesenteric-ischemia-from-a-single-mesenteric-vessel-stenosis
#2
Heepeel Chang, Neal C Hadro, Marc A Norris, Marvin E Morris
We present an atypical manifestation of chronic mesenteric ischemia in a patient with progressively worsening exertional abdominal pain. Imaging modalities revealed significant isolated stenosis of superior mesenteric artery. Successful angioplasty and stenting of superior mesenteric artery relieved patient's symptoms, thereby confirming the diagnosis of CMI. Exertional abdominal pain may be a unique manifestation of this disease, but when it presents, clinicians should have acute clinical awareness of this diagnosis...
May 11, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29757874/the-clearance-of-serum-human-epididymis-protein-4-following-primary-cytoreductive-surgery-for-ovarian-carcinoma
#3
Claire Thompson, Waseem Kamran, Lucy Dockrell, Srwa Khalid, Meena Kumari, Nadia Ibrahim, John OʼLeary, Lucy Norris, Max Petzold, Sharon OʼToole, Noreen Gleeson
OBJECTIVE: The aim of this study was to examine the clearance of serum human epididymis protein 4 (HE4) in the immediate postoperative period in patients undergoing maximal effort cytoreductive surgery for ovarian carcinoma. METHODS: The study was performed at a tertiary gynecologic oncology center. The surgery was performed by accredited gynecological oncologists. RESULTS: Preoperative and serial postoperative venous blood samples at 4, 8, 24, 48, 72, 96, and 120 hours were taken from 10 sequential patients...
May 4, 2018: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/29741626/functional-analysis-of-a-hypomorphic-allele-shows-that-mmp14-catalytic-activity-is-the-prime-determinant-of-the-winchester-syndrome-phenotype
#4
Ivo J H M de Vos, Evelyn Yaqiong Tao, Sheena Li Ming Ong, Julian L Goggi, Thomas Scerri, Gabrielle R Wilson, Chernis Guai Mun Low, Arnette Shi Wei Wong, Dominic Grussu, Alexander P A Stegmann, Michel van Geel, Renske Janssen, David J Amor, Melanie Bahlo, Norris R Dunn, Thomas J Carney, Paul J Lockhart, Barry J Coull, Maurice A M van Steensel
Winchester syndrome (WS, MIM #277950) is an extremely rare autosomal recessive skeletal dysplasia characterized by progressive joint destruction and osteolysis. To date, only one missense mutation in MMP14, encoding the membrane-bound matrix metalloprotease 14, has been reported in WS patients. Here, we report a novel hypomorphic MMP14 p.Arg111His (R111H) allele, associated with a mitigated form of WS. Functional analysis demonstrated that this mutation, in contrast to previously reported human and murine MMP14 mutations, does not affect MMP14's transport to the cell membrane...
May 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29730187/identification-of-proresolving-and-inflammatory-lipid-mediators-in-human-psoriasis
#5
Alexander V Sorokin, Paul C Norris, Justin T English, Amit K Dey, Abhishek Chaturvedi, Yvonne Baumer, Joanna Silverman, Martin P Playford, Charles N Serhan, Nehal N Mehta
BACKGROUND: Psoriasis (PSO) is an immune-mediated inflammatory disease associated with metabolic and cardiovascular comorbidities. It is now known that resolution of inflammation is an active process locally controlled by specialized proresolving mediators (SPMs), named resolvins (Rvs), protectins, and maresins. OBJECTIVE: It is unknown whether these potent lipid mediators (LMs) are involved in PSO pathophysiology and if the skin and blood have disease-specific SPMs phenotype profiles...
April 6, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29724890/progression-of-white-matter-hyperintensities-preceded-by-heterogeneous-decline-of-microstructural-integrity
#6
Esther M C van Leijsen, Mayra I Bergkamp, Ingeborg W M van Uden, Mohsen Ghafoorian, Helena M van der Holst, David G Norris, Bram Platel, Anil M Tuladhar, Frank-Erik de Leeuw
BACKGROUND AND PURPOSE: White matter hyperintensities (WMH) are frequently seen on neuroimaging of elderly and are associated with cognitive decline and the development of dementia. Yet, the temporal dynamics of conversion of normal-appearing white matter (NAWM) into WMH remains unknown. We examined whether and when progression of WMH was preceded by changes in fluid-attenuated inversion recovery and diffusion tensor imaging values, thereby taking into account differences between participants with mild versus severe baseline WMH...
May 3, 2018: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/29710789/daily-intake-of-milk-powder-and-risk-of-celiac-disease-in-early-childhood-a-nested-case-control-study
#7
Elin M Hård Af Segerstad, Hye-Seung Lee, Carin Andrén Aronsson, Jimin Yang, Ulla Uusitalo, Ingegerd Sjöholm, Marilyn Rayner, Kalle Kurppa, Suvi M Virtanen, Jill M Norris, Daniel Agardh
Milk powder and gluten are common components in Swedish infants' diets. Whereas large intakes of gluten early in life increases the risk of celiac disease in genetically at-risk Swedish children, no study has yet evaluated if intake of milk powder by 2 years of age is associated with celiac disease. A 1-to-3 nested case-control study, comprised of 207 celiac disease children and 621 controls matched for sex, birth year, and HLA genotype, was performed on a birth cohort of HLA-DR3-DQ2 and/or DR4-DQ8-positive children...
April 28, 2018: Nutrients
https://www.readbyqxmd.com/read/29708428/interpathologist-diagnostic-agreement-for-non-small-cell-lung-carcinomas-using-current-and-recent-classifications
#8
William K Funkhouser, D Neil Hayes, Dominic T Moore, W Keith Funkhouser, Jason P Fine, HeeJoon Jo, Nana Nikolaishvilli-Feinberg, Mervi Eeva, Juneko E Grilley-Olson, Peter M Banks, Paolo Graziano, Elizabeth L Boswell, Goran Elmberger, Kirtee Raparia, Craig F Hart, Lynette M Sholl, Norris J Nolan, Karen J Fritchie, Ersie Pouagare, Timothy C Allen, Keith E Volmar, Paul W Biddinger, Daniel T Kleven, Michael J Papez, Deborah V Spencer, Natasha Rekhtman, Mari Mino-Kenudson, Lida Hariri, Brandon Driver, Philip T Cagle
CONTEXT: - Measurement of interpathologist diagnostic agreement (IPDA) should allow pathologists to improve current diagnostic criteria and disease classifications. OBJECTIVES: - To determine how IPDA for pathologists' diagnoses of non-small cell lung carcinoma (NSCLC) is affected by the addition of a set of mucin and immunohistochemical (IHC) stains to hematoxylin-eosin (H&E) alone, by recent NSCLC reclassifications, by simplification of these classifications, and by pathologists' practice location, pulmonary pathology expertise, practice duration, and lung carcinoma case exposure...
April 30, 2018: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/29700007/abnormal-clotting-of-the-intrinsic-contact-pathway-in-alzheimer-disease-patients-is-related-to-cognitive-ability
#9
Georgette L Suidan, Pradeep K Singh, Sunita Patel-Hett, Zu-Lin Chen, Dmitri Volfson, Hitomi Yamamoto-Imoto, Erin H Norris, Robert D Bell, Sidney Strickland
Alzheimer disease (AD) is a neurodegenerative disorder characterized by extracellular β-amyloid (Aβ) deposition. Although peripheral inflammation and cerebrovascular pathology are reported in AD, there is a lack of plasma biomarkers in this field. Because the contact system is triggered in patient plasma, we hypothesized that the hemostasis profile could be a novel biomarker in AD. Here, we assessed the clotting profile in plasma from AD patients and age-matched controls. Utilizing clinically relevant assays, thromboelastography and activated partial thromboplastin time, we found impaired clot initiation and formation rate in AD patient plasma...
May 8, 2018: Blood Advances
https://www.readbyqxmd.com/read/29675950/risk-factors-for-red-blood-cell-alloimmunization-in-the-recipient-epidemiology-and-donor-evaluation-study-reds-iii-database
#10
Matthew S Karafin, Matt Westlake, Ronald G Hauser, Christopher A Tormey, Philip J Norris, Nareg H Roubinian, Yanyun Wu, Darrell J Triulzi, Steve Kleinman, Jeanne E Hendrickson
Despite the significance of red blood cell (RBC) alloimmunization, the lack of standardized registries in the US has prevented the completion of large studies. Data from 3·5 years of the Recipient Epidemiology and Donor Evaluation Study-III (REDS-III) recipient database, containing information from 12 hospitals, were studied. A RBC alloantibody responder had an antibody identified at any point during the study, and a non-responder had a negative antibody screen at least 15 days post-RBC transfusion. Demographics, blood type, ICD9/10 codes, and other potential correlates were evaluated...
April 19, 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29623627/cost-effectiveness-of-stapled-haemorrhoidopexy-and-traditional-excisional-surgery-for-the-treatment-of-haemorrhoidal-disease
#11
Mary M Kilonzo, Steven R Brown, Hanne Bruhn, Jonathan A Cook, Jemma Hudson, John Norrie, Angus J M Watson, Jessica Wood
OBJECTIVE: Our objective was to compare the cost effectiveness of stapled haemorrhoidopexy (SH) and traditional haemorrhoidectomy (TH) in the treatment of grade II-IV haemorrhoidal disease from the perspective of the UK national health service. METHODS: An economic evaluation was conducted alongside an open, two-arm, parallel-group, pragmatic, multicentre, randomised controlled trial conducted in several hospitals in the UK. Patients were randomised into either SH or TH surgery between January 2011 and August 2014 and were followed up for 24 months...
August 25, 2017: PharmacoEconomics Open
https://www.readbyqxmd.com/read/29606016/laboratory-diagnosis-of-lyme-borreliosis-current-state-of-the-art-and-future-perspectives
#12
Benedikt Lohr, Volker Fingerle, Douglas E Norris, Klaus-Peter Hunfeld
This review is directed at physicians and laboratory personnel in private practice and clinics who treat and diagnose Lyme borreliosis (LB) in patients as part of their daily work. A major objective of this paper is to bring together background information on Borrelia (B.) burgdorferi sensu lato (s.l.) and basic clinical knowledge of LB, which is one of the most frequently reported vector-borne diseases in the Northern Hemisphere. The goal is to provide practical guidance for clinicians and for laboratory physicians, and scientists for a better understanding of current achievements and ongoing obstacles in the laboratory diagnosis of LB, an infectious disease that still remains one of the diagnostic chameleons of modern clinical medicine...
April 2, 2018: Critical Reviews in Clinical Laboratory Sciences
https://www.readbyqxmd.com/read/29558110/quantitative-characterization-of-bivalent-probes-for-a-dual-bromodomain-protein-transcription-initiation-factor-tfiid-subunit-1-taf1
#13
Junghyun L Suh, Brian Watts, Jacob I Stuckey, Jacqueline L Norris-Drouin, Stephanie H Cholensky, Bradley M Dickson, Yi An, Sebastian Mathea, Eidarus Salah, Stefan Knapp, Abid Khan, Alexander T Adams, Brian D Strahl, Cari A Sagum, Mark T Bedford, Lindsey I James, Dmitri B Kireev, Stephen V Frye
Multivalent binding is an efficient means to enhance the affinity and specificity of chemical probes targeting multi-domain proteins in order to study their function and role in disease. While the theory of multivalent binding is straightforward, physical and structural characterization of bivalent binding encounters multiple technical difficulties. We present a case study where a combination of experimental techniques and computational simulations was used to comprehensively characterize the binding and structure-affinity relationships for a series of Bromosporine-based bivalent bromodomain ligands with a bivalent protein, Transcription Initiation Factor TFIID subunit 1 (TAF1)...
March 20, 2018: Biochemistry
https://www.readbyqxmd.com/read/29555754/behaviors-movements-and-transmission-of-droplet-mediated-respiratory-diseases-during-transcontinental-airline-flights
#14
Vicki Stover Hertzberg, Howard Weiss, Lisa Elon, Wenpei Si, Sharon L Norris
With over 3 billion airline passengers annually, the inflight transmission of infectious diseases is an important global health concern. Over a dozen cases of inflight transmission of serious infections have been documented, and air travel can serve as a conduit for the rapid spread of newly emerging infections and pandemics. Despite sensational media stories and anecdotes, the risks of transmission of respiratory viruses in an airplane cabin are unknown. Movements of passengers and crew may facilitate disease transmission...
April 3, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29548423/alopecia-areata-is-a-medical-disease
#15
EDITORIAL
Dorota Z Korta, Angela M Christiano, Wilma Bergfeld, Madeleine Duvic, Abby Ellison, Jennifer Fu, John E Harris, Maria K Hordinsky, Brett King, Dory Kranz, Julian Mackay-Wiggan, Amy McMichael, David A Norris, Vera Price, Jerry Shapiro, Natasha Atanaskova Mesinkovska
No abstract text is available yet for this article.
April 2018: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29546329/metabolomics-identifies-distinctive-metabolite-signatures-for-measures-of-glucose-homeostasis-the-insulin-resistance-atherosclerosis-family-study-iras-fs
#16
Nicholette D Palmer, Hayrettin Okut, Fang-Chi Hsu, Maggie C Y Ng, Yii-Der Ida Chen, Mark O Goodarzi, Kent D Taylor, Jill M Norris, Carlos Lorenzo, Jerome I Rotter, Richard N Bergman, Carl D Langefeld, Lynne E Wagenknecht, Donald W Bowden
Context: Metabolomics provides a biochemical fingerprint that, when coupled with clinical phenotypes, can provide insight into physiological processes. Objective: Survey metabolites associated with dynamic and basal measures of glucose homeostasis. Design: Analysis of 733 plasma metabolites from the Insulin Resistance Atherosclerosis Family Study. Setting: Community based. Participants: One thousand one hundred eleven Mexican Americans...
May 1, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29545392/trajectories-of-health-related-quality-of-life-in-coronary-artery-disease
#17
Tolulope T Sajobi, Meng Wang, Oluwagbohunmi Awosoga, Maria Santana, Danielle Southern, Zhiying Liang, Diane Galbraith, Stephen B Wilton, Hude Quan, Michelle M Graham, Matthew T James, William A Ghali, Merrill L Knudtson, Colleen Norris
BACKGROUND: Health-related quality of life (HRQOL) assessment is an important health outcome for measuring the efficacy of treatments and interventions for coronary artery disease (CAD). HRQOL is known to improve over the first year after interventions for CAD, but there is limited knowledge of the changes in HRQOL beyond 1 year. We investigated heterogeneity in long-term trajectories of HRQOL in patients with CAD. METHODS AND RESULTS: Data were obtained from 6226 patients identified from the Alberta Provincial Project for Outcome Assessment in Coronary Heart Disease with at least 1-vessel CAD who underwent their first catheterization between 2006 and 2009...
March 2018: Circulation. Cardiovascular Quality and Outcomes
https://www.readbyqxmd.com/read/29527297/incorporating-health-workers-perspectives-into-a-who-guideline-on-personal-protective-equipment-developed-during-an-ebola-virus-disease-outbreak
#18
Saskia Den Boon, Constanza Vallenas, Mauricio Ferri, Susan L Norris
Background: Ebola virus disease (EVD) health facility transmission can result in infection and death of health workers. The World Health Organization (WHO) supports countries in preparing for and responding to public health emergencies, which often require developing new guidance in short timelines with scarce evidence. The objective of this study was to understand frontline physicians' and nurses' perspectives about personal protective equipment (PPE) use during the 2014-2016 EVD outbreak in West Africa and to incorporate these findings into the development process of a WHO rapid advice guideline...
2018: F1000Research
https://www.readbyqxmd.com/read/29525492/stage-at-which-riluzole-treatment-prolongs-survival-in-patients-with-amyotrophic-lateral-sclerosis-a-retrospective-analysis-of-data-from-a-dose-ranging-study
#19
Ton Fang, Ahmad Al Khleifat, Jacques-Henri Meurgey, Ashley Jones, P Nigel Leigh, Gilbert Bensimon, Ammar Al-Chalabi
BACKGROUND: Riluzole is the only drug to prolong survival for amyotrophic lateral sclerosis (ALS) and, at a dose of 100 mg, was associated with a 35% reduction in mortality in a clinical trial. A key question is whether the survival benefit occurs at an early stage of disease, late stage, or is spread throughout the course of the disease. To address this question, we used the King's clinical staging system to do a retrospective analysis of data from the original dose-ranging clinical trial of riluzole...
May 2018: Lancet Neurology
https://www.readbyqxmd.com/read/29524409/metabololipidomic-profiling-of-functional-immunoresolvent-clusters-and-eicosanoids-in-mammalian-tissues
#20
Paul C Norris, Charles N Serhan
Metabolomics enables a systems approach to interrogate the bioactive mediators, their pathways and further metabolites involved in the physiology and pathophysiology of human and animal tissues. New metabololipidomic approaches with mass spectrometry presented in this brief review can now be utilized for the identification and profiling of lipid mediator networks that control inflammation-resolution in human blood and healthy and diseased solid tissues. Coagulation of blood is a protective response that prevents excessive bleeding on injury of blood vessels...
March 15, 2018: Biochemical and Biophysical Research Communications
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