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https://www.readbyqxmd.com/read/28645531/new-protein-structures-provide-an-updated-understanding-of-phenylketonuria
#1
REVIEW
Eileen K Jaffe
Phenylketonuria (PKU) and less severe hyperphenylalaninemia (HPA) constitute the most common inborn error of amino acid metabolism, and is most often caused by defects in phenylalanine hydroxylase (PAH) function resulting in accumulation of Phe to neurotoxic levels. Despite the success of dietary intervention in preventing permanent neurological damage, individuals living with PKU clamor for additional non-dietary therapies. The bulk of disease-associated mutations are PAH missense variants, which occur throughout the entire 452 amino acid human PAH protein...
June 15, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28641474/myc-gene-rearrangement-in-diffuse-large-b-cell-lymphoma-does-not-confer-a-worse-prognosis-following-dose-adjusted-epoch-r
#2
Catherine Lai, Mark Roschewski, Christopher Melani, Stefania Pittaluga, Margaret Shovlin, Seth M Steinberg, Kieron Dunleavy, Svetlana Pack, Elaine S Jaffe, Wyndham H Wilson
No abstract text is available yet for this article.
June 22, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28641043/radiogenomics-of-high-grade-serous-ovarian-cancer-multireader-multi-institutional-study-from-the-cancer-genome-atlas-ovarian-cancer-imaging-research-group
#3
Hebert Alberto Vargas, Erich P Huang, Yulia Lakhman, Joseph E Ippolito, Priya Bhosale, Vincent Mellnick, Atul B Shinagare, Maria Anello, Justin Kirby, Brenda Fevrier-Sullivan, John Freymann, C Carl Jaffe, Evis Sala
Purpose To evaluate interradiologist agreement on assessments of computed tomography (CT) imaging features of high-grade serous ovarian cancer (HGSOC), to assess their associations with time-to-disease progression (TTP) and HGSOC transcriptomic profiles (Classification of Ovarian Cancer [CLOVAR]), and to develop an imaging-based risk score system to predict TTP and CLOVAR profiles. Materials and Methods This study was a multireader, multi-institutional, institutional review board-approved, HIPAA-compliant retrospective analysis of 92 patients with HGSOC (median age, 61 years) with abdominopelvic CT before primary cytoreductive surgery available through the Cancer Imaging Archive...
June 22, 2017: Radiology
https://www.readbyqxmd.com/read/28638529/creating-provider-level-quality-reports-for-residents-to-improve-the-clinical-learning-environment
#4
Rebecca Jaffe, Gretchen Diemer, John Caruso, Matthew Metzinger
No abstract text is available yet for this article.
June 2017: Journal of Graduate Medical Education
https://www.readbyqxmd.com/read/28637706/endothelial-mineralocorticoid-receptor-contributes-to-systolic-dysfunction-induced-by-pressure-overload-without-modulating-cardiac-hypertrophy-or-inflammation
#5
Ane M Salvador, M Elizabeth Moss, Mark Aronovitz, Kathleen B Mueller, Robert M Blanton, Iris Z Jaffe, Pilar Alcaide
Heart Failure (HF) is associated with increased circulating levels of aldosterone and systemic inflammation. Mineralocorticoid receptor (MR) antagonists block aldosterone action and decrease mortality in patients with congestive HF However, the molecular mechanisms underlying the therapeutic benefits of MR antagonists remain unclear. MR is expressed in all cell types in the heart, including the endothelial cells (EC), in which aldosterone induces the expression of intercellular adhesion molecule 1 (ICAM-1)...
June 2017: Physiological Reports
https://www.readbyqxmd.com/read/28636231/orchestration-at-the-beginning-mitosis-in-sea-urchin-embryo
#6
Giselle A Abruzzese, Nae Tanpradit, Renata S Tavares
Development of multicellular organisms is driven by a series of mitotic divisions after fertilization. Total cytoplasmic volume does not increase during this process, resulting in an increasing number of smaller daughter cells. Cell divisions are initially synchronous in an early embryo, but this ends at the 16-cell stage in the sea urchin. Orchesterated mitosis does, however, continue in subpopulations via the coordination of two different processes: karyokinesis and cytokinesis. Part of this asynchrony is due to the differentiation of lineages...
June 21, 2017: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/28634288/qsva-framework-for-rna-quality-correction-in-differential-expression-analysis
#7
Andrew E Jaffe, Ran Tao, Alexis L Norris, Marc Kealhofer, Abhinav Nellore, Joo Heon Shin, Dewey Kim, Yankai Jia, Thomas M Hyde, Joel E Kleinman, Richard E Straub, Jeffrey T Leek, Daniel R Weinberger
RNA sequencing (RNA-seq) is a powerful approach for measuring gene expression levels in cells and tissues, but it relies on high-quality RNA. We demonstrate here that statistical adjustment using existing quality measures largely fails to remove the effects of RNA degradation when RNA quality associates with the outcome of interest. Using RNA-seq data from molecular degradation experiments of human primary tissues, we introduce a method-quality surrogate variable analysis (qSVA)-as a framework for estimating and removing the confounding effect of RNA quality in differential expression analysis...
June 20, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28634267/30-years-of-the-mineralocorticoid-receptor-the-role-of-the-mineralocorticoid-receptor-in-the-vasculature
#8
REVIEW
Jennifer J DuPont, Iris Z Jaffe
Since the mineralocorticoid receptor (MR) was cloned 30 years ago, it has become clear that MR is expressed in extra-renal tissues, including the cardiovascular system, where it is expressed in all cells of the vasculature. Understanding the role of MR in the vasculature has been of particular interest as clinical trials show that MR antagonism improves cardiovascular outcomes out of proportion to changes in blood pressure. The last 30 years of research have demonstrated that MR is a functional hormone-activated transcription factor in vascular smooth muscle cells and endothelial cells...
July 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28632844/complement-mediated-regulation-of-apolipoprotein-e-in-cultured-human-rpe-cells
#9
Ping Yang, Nikolai P Skiba, Grace M Tewkesbury, Victoria M Treboschi, Peter Baciu, Glenn J Jaffe
PURPOSE: Complement activation is implicated in the pathogenesis of age-related macular degeneration (AMD). Apolipoprotein E (ApoE) and complement activation products such as membrane attack complex (MAC) are present in eyes of individuals with AMD. Herein, we investigated the effect of complement activation on induction of ApoE accumulation in human retinal pigment epithelial (RPE) cells. METHODS: Cultured human RPE cells were primed with a complement-fixing antibody followed by treatment with C1q-depleted (C1q-Dep) human serum to elicit alternative pathway complement activation...
June 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28630453/longitudinal-analyses-of-the-dna-methylome-in-deployed-military-servicemen-identify-susceptibility-loci-for-post-traumatic-stress-disorder
#10
B P F Rutten, E Vermetten, C H Vinkers, G Ursini, N P Daskalakis, E Pishva, L de Nijs, L C Houtepen, L Eijssen, A E Jaffe, G Kenis, W Viechtbauer, D van den Hove, K G Schraut, K-P Lesch, J E Kleinman, T M Hyde, D R Weinberger, L Schalkwyk, K Lunnon, J Mill, H Cohen, R Yehuda, D G Baker, A X Maihofer, C M Nievergelt, E Geuze, M P M Boks
In order to determine the impact of the epigenetic response to traumatic stress on post-traumatic stress disorder (PTSD), this study examined longitudinal changes of genome-wide blood DNA methylation profiles in relation to the development of PTSD symptoms in two prospective military cohorts (one discovery and one replication data set). In the first cohort consisting of male Dutch military servicemen (n=93), the emergence of PTSD symptoms over a deployment period to a combat zone was significantly associated with alterations in DNA methylation levels at 17 genomic positions and 12 genomic regions...
June 20, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28630267/a-structured-review-of-antithrombotic-therapy-in-peripheral-artery-disease-with-a-focus-on-revascularization-a-tasc-intersociety-consensus-for-the-management-of-peripheral-artery-disease-initiative
#11
REVIEW
Connie N Hess, Lars Norgren, Gary M Ansel, Warren H Capell, John P Fletcher, F Gerry R Fowkes, Anders Gottsäter, Kerry Hitos, Michael R Jaff, Joakim Nordanstig, William R Hiatt
Peripheral artery disease affects >200 million people worldwide and is associated with significant limb and cardiovascular morbidity and mortality. Limb revascularization is recommended to improve function and quality of life for symptomatic patients with peripheral artery disease with intermittent claudication who have not responded to medical treatment. For patients with critical limb ischemia, the goals of revascularization are to relieve pain, help wound healing, and prevent limb loss. The baseline risk of cardiovascular and limb-related events demonstrated among patients with stable peripheral artery disease is elevated after revascularization and related to atherothrombosis and restenosis...
June 20, 2017: Circulation
https://www.readbyqxmd.com/read/28625220/economic-spillovers-from-public-investments-in-medical-countermeasures-a-case-study-of-a-burn-debridement-product
#12
Farah Farahati, Scott Nystrom, David R Howell, Richard Jaffe
OBJECTIVE: The US federal government invests in the development of medical countermeasures for addressing adverse health effects to the civilian population from chemical, biological, and radiological or nuclear threats. We model the potential economic spillover effects in day-to-day burn care for a federal investment in a burn debridement product for responding to an improvised nuclear device. METHODS: We identify and assess 4 primary components for projecting the potential economic spillover benefits of a burn debridement product: (1) market size, (2) clinical effectiveness and cost-effectiveness, (3) product cost, and (4) market adoption rates...
June 19, 2017: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/28620652/visual-and-morphologic-outcomes-in-eyes-with-hard-exudate-in-the-comparison-of-age-related-macular-degeneration-treatments-trials
#13
Ebenezer Daniel, Juan E Grunwald, Benjamin J Kim, Maureen G Maguire, Glenn J Jaffe, Cynthia A Toth, Frederick L Ferris, Daniel F Martin, James Shaffer, Gui-Shuang Ying
PURPOSE: To compare baseline characteristics, visual acuity (VA) and morphological outcomes between eyes with baseline hard exudates (HE) and all other eyes among patients with neovascular age-related macular degeneration (NVAMD) treated with anti-vascular endothelial growth factors (anti-VEGF). DESIGN: Prospective cohort study within the Comparison of Age-Related Macular Degeneration Treatments Trials (CATT). PARTICIPANTS: Patients with NVAMD...
January 2017: Ophthalmology retina
https://www.readbyqxmd.com/read/28601378/gnrh-agonist-administration-prior-to-embryo-transfer-in-freeze-all-cycles-of-patients-with-endometriosis-or-aberrant-endometrial-integrin-expression
#14
Eric S Surrey, Mandy Katz-Jaffe, Laxmi V Kondapalli, Robert L Gustofson, William B Schoolcraft
Prolonged gonadotrophin-releasing hormone agonist (GnRHa) administration before IVF with fresh embryo transfer to patients with endometriosis or aberrant endometrial integrin expression (-integrin) improves outcomes but may suppress ovarian response and prevents elective cryopreservation of all embryos. This retrospective cohort pilot study evaluates freeze-all cycles with subsequent prolonged GnRHa before embryo transfer in these populations. Patients from 2010 to 2015 who met inclusion criteria and received a long-acting GnRHa every 28 days twice before FET were evaluated...
May 17, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28595284/infertility-diagnosis-has-a-significant-impact-on-the-transcriptome-of-developing-blastocysts
#15
Blair R McCallie, Jason C Parks, Darren K Griffin, William B Schoolcraft, Mandy G Katz-Jaffe
STUDY QUESTION: Is the human blastocyst transcriptome associated with infertility diagnosis, specifically: polycystic ovaries (PCO), male factor (MF), and unexplained (UE)? SUMMARY ANSWER: The global blastocyst transcriptome was significantly altered in association with a PCO, MF, and UE infertility diagnosis. WHAT IS KNOWN ALREADY: Infertility diagnosis has an impact on the probability for a successful outcome following an IVF cycle. Limited information is known regarding the relationship between a specific infertility diagnosis and blastocyst transcription during pre-implantation development...
June 8, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28593800/use-of-copeptin-for-rapid-rule-out-of-acute-myocardial-infarction
#16
Christian Mueller, Martin Möckel, Evangelos Giannitsis, Kurt Huber, Johannes Mair, Mario Plebani, Kristian Thygesen, Allan S Jaffe, Bertil Lindahl
Copeptin is currently understood as a quantitative marker of endogenous stress. It rises rapidly in multiple acute disorders including acute myocardial infarction. As a single variable, it has only modest diagnostic accuracy for acute myocardial infarction. However, the use of copeptin within a dual-marker strategy together with conventional cardiac troponin increases the diagnostic accuracy and particularly the negative predictive value of cardiac troponin alone for acute myocardial infarction. The rapid rule-out of acute myocardial infarction is the only application in acute cardiac care mature enough to merit consideration for routine clinical care...
June 1, 2017: European Heart Journal. Acute Cardiovascular Care
https://www.readbyqxmd.com/read/28587473/eliminating-female-genital-mutilation-cutting-in-iraqi-kurdistan-a-challenge
#17
Dilshad Jaff
No abstract text is available yet for this article.
June 7, 2017: Medicine, Conflict, and Survival
https://www.readbyqxmd.com/read/28583682/outcome-of-stent-graft-implantation-for-treatment-of-access-site-bleeding-after-transfemoral-transcatheter-aortic-valve-replacement
#18
Adi Segal, Moshe Y Flugelman, Nader Khader, Ronen Rubinshtein, Idit Lavi, Ron Karmeli, Ayman Jubran, Avinoam Shiran, Ronen Jaffe
Vascular complications are common after transcatheter aortic valve replacement (TAVR) and are associated with increased morbidity and mortality. Stent graft implantation enables percutaneous treatment of access site bleeding; however, the efficacy and durability and of this approach are unknown. We studied the immediate outcome of stent graft implantation for control of access site bleeding and the need for repeat vascular interventions after stenting, in a cohort of consecutive patients with severe symptomatic aortic stenosis who underwent transfemoral TAVR...
May 11, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28576206/association-of-orbital-decompression-and-the-characteristics-of-subsequent-strabismus-surgery-in-thyroid-eye-disease
#19
Ofira Zloto, Guy Ben Simon, Ido Didi Fabian, Oded Sagiv, Ruth Huna-Baron, Itay Ben Zion, Tamara Wygnanski-Jaffe
OBJECTIVE: To examine the association of orbital decompression and the characteristics and outcome of subsequent strabismus surgery in patients with thyroid eye disease (TED). METHODS: Data on patients with TED who underwent orbital decompression at the Goldschleger Eye Institute, Sheba Medical Center, Israel, between January 1990 to December 2011 were extracted. The characteristics of decompression and strabismus surgeries were recorded. The outcomes and association of both surgical procedures were analyzed...
June 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/28572883/impact-of-creatinine-methodology-on-glomerular-filtration-rate-estimation-in-diabetes
#20
Marijana Vučić Lovrenčić, Vanja Radišić Biljak, Kristina Blaslov, Sandra Božičević, Lea Smirčić Duvnjak
AIM: To evaluate the influence of creatinine methodology on the performance of chronic kidney disease (CKD)-Epidemiology Collaboration Group-calculated estimated glomerular filtration rate (CKD-EPI-eGFR) for CKD diagnosis/staging in a large cohort of diabetic patients. METHODS: Fasting blood samples were taken from diabetic patients attending our clinic for their regular annual examination, including laboratory measurement of serum creatinine and eGFR. RESULTS: Our results indicated an overall excellent agreement in CKD staging (kappa = 0...
May 15, 2017: World Journal of Diabetes
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