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https://www.readbyqxmd.com/read/29345938/pso-method-for-fitting-analytic-potential-energy-functions-application-to-i-h2o
#1
Hum N Bandari, Xinyou Ma, Amit Kumar Paul, Philip Smith, William Louis Hase
In this work a Particle Swarm Optimization (PSO) algorithm was used to fit an analytic potential energy function to I-(H2O) intermolecular potential energy curves calculated with DFT/B97-1 theory. The analytic function is a sum of two-body terms, each written as a generalized sum of Buckingham and Lennard-Jones terms with only six parameters. Two models were used to describe the two-body terms between I- and H2O: a 3-site model H2O; and a 4-site model including a ghost atom. The fits are compared with those obtained with a genetic/non-linear least-squares algorithm...
January 18, 2018: Journal of Chemical Theory and Computation
https://www.readbyqxmd.com/read/29345416/a-qualitative-study-experiences-of-stigma-by-people-with-mental-health-problems
#2
Charlotte Huggett, Michèle D Birtel, Yvonne F Awenat, Paul Fleming, Sophie Wilkes, Shirley Williams, Gillian Haddock
OBJECTIVES: Prior research has examined various components involved in the impact of public and internalized stigma on people with mental health problems. However, studies have not previously investigated the subjective experiences of mental health stigma by those affected in a non-statutory treatment-seeking population. DESIGN: An in-depth qualitative study was conducted using thematic analysis to investigate the experiences of stigma in people with mental health problems...
January 18, 2018: Psychology and Psychotherapy
https://www.readbyqxmd.com/read/29343741/species-distribution-modelling-contrasting-presence-only-models-with-plot-abundance-data
#3
Vitor H F Gomes, Stéphanie D IJff, Niels Raes, Iêda Leão Amaral, Rafael P Salomão, Luiz de Souza Coelho, Francisca Dionízia de Almeida Matos, Carolina V Castilho, Diogenes de Andrade Lima Filho, Dairon Cárdenas López, Juan Ernesto Guevara, William E Magnusson, Oliver L Phillips, Florian Wittmann, Marcelo de Jesus Veiga Carim, Maria Pires Martins, Mariana Victória Irume, Daniel Sabatier, Jean-François Molino, Olaf S Bánki, José Renan da Silva Guimarães, Nigel C A Pitman, Maria Teresa Fernandez Piedade, Abel Monteagudo Mendoza, Bruno Garcia Luize, Eduardo Martins Venticinque, Evlyn Márcia Moraes de Leão Novo, Percy Núñez Vargas, Thiago Sanna Freire Silva, Angelo Gilberto Manzatto, John Terborgh, Neidiane Farias Costa Reis, Juan Carlos Montero, Katia Regina Casula, Beatriz S Marimon, Ben-Hur Marimon, Euridice N Honorio Coronado, Ted R Feldpausch, Alvaro Duque, Charles Eugene Zartman, Nicolás Castaño Arboleda, Timothy J Killeen, Bonifacio Mostacedo, Rodolfo Vasquez, Jochen Schöngart, Rafael L Assis, Marcelo Brilhante Medeiros, Marcelo Fragomeni Simon, Ana Andrade, William F Laurance, José Luís Camargo, Layon O Demarchi, Susan G W Laurance, Emanuelle de Sousa Farias, Henrique Eduardo Mendonça Nascimento, Juan David Cardenas Revilla, Adriano Quaresma, Flavia R C Costa, Ima Célia Guimarães Vieira, Bruno Barçante Ladvocat Cintra, Hernán Castellanos, Roel Brienen, Pablo R Stevenson, Yuri Feitosa, Joost F Duivenvoorden, Gerardo A Aymard C, Hugo F Mogollón, Natalia Targhetta, James A Comiskey, Alberto Vicentini, Aline Lopes, Gabriel Damasco, Nállarett Dávila, Roosevelt García-Villacorta, Carolina Levis, Juliana Schietti, Priscila Souza, Thaise Emilio, Alfonso Alonso, David Neill, Francisco Dallmeier, Leandro Valle Ferreira, Alejandro Araujo-Murakami, Daniel Praia, Dário Dantas do Amaral, Fernanda Antunes Carvalho, Fernanda Coelho de Souza, Kenneth Feeley, Luzmila Arroyo, Marcelo Petratti Pansonato, Rogerio Gribel, Boris Villa, Juan Carlos Licona, Paul V A Fine, Carlos Cerón, Chris Baraloto, Eliana M Jimenez, Juliana Stropp, Julien Engel, Marcos Silveira, Maria Cristina Peñuela Mora, Pascal Petronelli, Paul Maas, Raquel Thomas-Caesar, Terry W Henkel, Doug Daly, Marcos Ríos Paredes, Tim R Baker, Alfredo Fuentes, Carlos A Peres, Jerome Chave, Jose Luis Marcelo Pena, Kyle G Dexter, Miles R Silman, Peter Møller Jørgensen, Toby Pennington, Anthony Di Fiore, Fernando Cornejo Valverde, Juan Fernando Phillips, Gonzalo Rivas-Torres, Patricio von Hildebrand, Tinde R van Andel, Ademir R Ruschel, Adriana Prieto, Agustín Rudas, Bruce Hoffman, César I A Vela, Edelcilio Marques Barbosa, Egleé L Zent, George Pepe Gallardo Gonzales, Hilda Paulette Dávila Doza, Ires Paula de Andrade Miranda, Jean-Louis Guillaumet, Linder Felipe Mozombite Pinto, Luiz Carlos de Matos Bonates, Natalino Silva, Ricardo Zárate Gómez, Stanford Zent, Therany Gonzales, Vincent A Vos, Yadvinder Malhi, Alexandre A Oliveira, Angela Cano, Bianca Weiss Albuquerque, Corine Vriesendorp, Diego Felipe Correa, Emilio Vilanova Torre, Geertje van der Heijden, Hirma Ramirez-Angulo, José Ferreira Ramos, Kenneth R Young, Maira Rocha, Marcelo Trindade Nascimento, Maria Natalia Umaña Medina, Milton Tirado, Ophelia Wang, Rodrigo Sierra, Armando Torres-Lezama, Casimiro Mendoza, Cid Ferreira, Cláudia Baider, Daniel Villarroel, Henrik Balslev, Italo Mesones, Ligia Estela Urrego Giraldo, Luisa Fernanda Casas, Manuel Augusto Ahuite Reategui, Reynaldo Linares-Palomino, Roderick Zagt, Sasha Cárdenas, William Farfan-Rios, Adeilza Felipe Sampaio, Daniela Pauletto, Elvis H Valderrama Sandoval, Freddy Ramirez Arevalo, Isau Huamantupa-Chuquimaco, Karina Garcia-Cabrera, Lionel Hernandez, Luis Valenzuela Gamarra, Miguel N Alexiades, Susamar Pansini, Walter Palacios Cuenca, William Milliken, Joana Ricardo, Gabriela Lopez-Gonzalez, Edwin Pos, Hans Ter Steege
Species distribution models (SDMs) are widely used in ecology and conservation. Presence-only SDMs such as MaxEnt frequently use natural history collections (NHCs) as occurrence data, given their huge numbers and accessibility. NHCs are often spatially biased which may generate inaccuracies in SDMs. Here, we test how the distribution of NHCs and MaxEnt predictions relates to a spatial abundance model, based on a large plot dataset for Amazonian tree species, using inverse distance weighting (IDW). We also propose a new pipeline to deal with inconsistencies in NHCs and to limit the area of occupancy of the species...
January 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29343721/%C3%A2-133p53-isoform-promotes-tumour-invasion-and-metastasis-via-interleukin-6-activation-of-jak-stat-and-rhoa-rock-signalling
#4
Hamish Campbell, Nicholas Fleming, Imogen Roth, Sunali Mehta, Anna Wiles, Gail Williams, Claire Vennin, Nikola Arsic, Ashleigh Parkin, Marina Pajic, Fran Munro, Les McNoe, Michael Black, John McCall, Tania L Slatter, Paul Timpson, Roger Reddel, Pierre Roux, Cristin Print, Margaret A Baird, Antony W Braithwaite
∆122p53 mice (a model of ∆133p53 isoform) are tumour-prone, have extensive inflammation and elevated serum IL-6. To investigate the role of IL-6 we crossed ∆122p53 mice with IL-6 null mice. Here we show that loss of IL-6 reduced JAK-STAT signalling, tumour incidence and metastasis. We also show that ∆122p53 activates RhoA-ROCK signalling leading to tumour cell invasion, which is IL-6-dependent and can be reduced by inhibition of JAK-STAT and RhoA-ROCK pathways. Similarly, we show that Δ133p53 activates these pathways, resulting in invasive and migratory phenotypes in colorectal cancer cells...
January 17, 2018: Nature Communications
https://www.readbyqxmd.com/read/29343535/debates-in-pain-management-testing
#5
Stacy E F Melanson, William A Clarke, Keith Fragoza, Christopher Gilligan, Rebecca Holdren, Paul J Jannetto, Barbarajean Magnani, Christine Moore
No abstract text is available yet for this article.
January 17, 2018: Clinical Chemistry
https://www.readbyqxmd.com/read/29342216/in-vitro-activity-of-novel-glycopolymer-against-clinical-isolates-of-multidrug-resistant-staphylococcus-aureus
#6
Vidya P Narayanaswamy, Scott A Giatpaiboon, John Uhrig, Paul Orwin, William Wiesmann, Shenda M Baker, Stacy M Townsend
The incidence of multidrug-resistant (MDR) organisms, including methicillin-resistant Staphylococcus aureus (MRSA), is a serious threat to public health. Progress in developing new therapeutics is being outpaced by antibiotic resistance development, and alternative agents that rapidly permeabilize bacteria hold tremendous potential for treating MDR infections. A new class of glycopolymers includes polycationic poly-N (acetyl, arginyl) glucosamine (PAAG) is under development as an alternative to traditional antibiotic strategies to treat MRSA infections...
2018: PloS One
https://www.readbyqxmd.com/read/29341866/identifying-low-grade-cellular-rejection-after-heart-transplantation-in-children-using-gene-expression-profiling
#7
Annie Xin, Melissa G Y Lee, Yifang Hu, Vera Ignjatovic, William Y Shi, Anne Shipp, Slavica Praporski, Axel Kallies, Robert G Weintraub, Paul T Monagle, Gordon K Smyth, Igor Konstantinov
BACKGROUND: Endomyocardial biopsy (EMB) remains the gold standard for detecting rejection after heart transplantation but is costly and invasive. This study aims to distinguish no rejection (0R) from low-grade rejection (1R/2R) after heart transplantation in children by global gene expression profiling in blood. METHODS: A total of 106 blood samples with corresponding EMB from 18 children who underwent heart transplantation from 2011-2014 were analyzed (18 baseline/pre-transplantation samples, 88 EMB samples)...
December 20, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/29340623/pharmacokinetics-of-rituximab-and-clinical-outcomes-in-patients-with-anti-neutrophil-cytoplasmic-antibody-associated-vasculitis
#8
Divi Cornec, Brian F Kabat, John R Mills, Melissa Cheu, Amber M Hummel, Darrell R Schroeder, Matthew D Cascino, Paul Brunetta, David L Murray, Melissa R Snyder, Fernando Fervenza, Gary S Hoffman, Cees G M Kallenberg, Carol A Langford, Peter A Merkel, Paul A Monach, Philip Seo, Robert F Spiera, E William St Clair, John H Stone, David R Barnidge, Ulrich Specks
Objectives: To study the determinants of the pharmacokinetics (PK) of rituximab (RTX) in patients with ANCA-associated vasculitis (AAV) and its association with clinical outcomes. Methods: This study included data from 89 patients from the RTX in AAV trial who received the full dose of RTX (four weekly infusions of 375 mg/m2). RTX was quantified at weeks 2, 4, 8, 16 and 24, and summarized by computing the trapezoidal area under the curve. We explored potential determinants of the PK-RTX, and analysed its association with clinical outcomes: achievement of remission at 6 months, duration of B-cell depletion and time to relapse in patients who achieved complete remission...
January 10, 2018: Rheumatology
https://www.readbyqxmd.com/read/29340160/stereotactic-body-radiation-therapy-for-the-treatment-of-oligoprogression-on-androgen-receptor-targeted-therapy-in-castration-resistant-prostate-cancer
#9
Thu-Cuc Nguyen, Ravneet Bajwa, Shahla Bari, Azka Ali, William Paul Skelton, Roland-Austin Federico, Rohit Bishnoi, Justin W Wray, Robert A Zlotecki, Long H Dang, Jameel Muzaffar
Castration-resistant prostate cancer is an incurable disease. To date, six agents-abiraterone, enzalutamide, docetaxel, cabazitaxel, radium-223 and sipuleucel-T- have shown clinical efficacy in phase III clinical trials, leading to their FDA approval. Patients are typically sequenced through most or all of these agents, and then eventually succumb to their disease. Development of new treatments remains an unmet need. We report a case of a patient who progressed on enzalutamide with a single enlarging metastatic lesion, was treated with ablative stereotactic body radiation therapy while maintaining the same systemic treatment, who then had durable complete remission...
January 2018: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/29331400/locally-advanced-pancreas-cancer-staging-and-goals-of-therapy
#10
Nikolaos A Chatzizacharias, Susan Tsai, Michael Griffin, Parag Tolat, Paul Ritch, Ben George, Chad Barnes, Mohammed Aldakkak, Abdul H Khan, William Hall, Beth Erickson, Douglas B Evans, Kathleen K Christians
BACKGROUND: Patients with locally advanced pancreatic cancer have historically been considered inoperable. The purpose of this report was to determine resectability rates for patients with locally advanced pancreatic cancer based on our recently described definitions of type A and type B locally advanced pancreatic cancer. METHODS: An institutional prospective pancreas cancer database was queried for consecutive patients with locally advanced pancreatic cancer treated between January 2009 and June 2017...
January 10, 2018: Surgery
https://www.readbyqxmd.com/read/29330478/interaction-of-suppressor-of-cytokine-signalling-3-with-cavin-1-links-socs3-function-and-cavin-1-stability
#11
Jamie J L Williams, Nasser Alotaiq, William Mullen, Richard Burchmore, Libin Liu, George S Baillie, Fred Schaper, Paul F Pilch, Timothy M Palmer
Effective suppression of JAK-STAT signalling by the inducible inhibitor "suppressor of cytokine signalling 3" (SOCS3) is essential for limiting signalling from cytokine receptors. Here we show that cavin-1, a component of caveolae, is a functionally significant SOCS3-interacting protein. Biochemical and confocal imaging demonstrate that SOCS3 localisation to the plasma membrane requires cavin-1. SOCS3 is also critical for cavin-1 stabilisation, such that deletion of SOCS3 reduces the expression of cavin-1 and caveolin-1 proteins, thereby reducing caveola abundance in endothelial cells...
January 12, 2018: Nature Communications
https://www.readbyqxmd.com/read/29330332/identification-and-characterization-of-sites-where-persistent-atrial-fibrillation-is-terminated-by-localized-ablation
#12
Junaid A B Zaman, William H Sauer, Mahmood I Alhusseini, Tina Baykaner, Ryan T Borne, Christopher A B Kowalewski, Sonia Busch, Paul C Zei, Shirley Park, Mohan N Viswanathan, Paul J Wang, Johannes Brachmann, David E Krummen, John M Miller, Wouter Jan Rappel, Sanjiv M Narayan, Nicholas S Peters
BACKGROUND: The mechanisms by which persistent atrial fibrillation (AF) terminates via localized ablation are not well understood. To address the hypothesis that sites where localized ablation terminates persistent AF have characteristics identifiable with activation mapping during AF, we systematically examined activation patterns acquired only in cases of unequivocal termination by ablation. METHODS AND RESULTS: We recruited 57 patients with persistent AF undergoing ablation, in whom localized ablation terminated AF to sinus rhythm or organized tachycardia...
January 2018: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/29329280/status-of-hiv-epidemic-control-among-adolescent-girls-and-young-women-aged-15-24-years-seven-african-countries-2015-2017
#13
Kristin Brown, Daniel B Williams, Steve Kinchen, Suzue Saito, Elizabeth Radin, Hetal Patel, Andrea Low, Stephen Delgado, Owen Mugurungi, Godfrey Musuka, Beth A Tippett Barr, E Amaka Nwankwo-Igomu, Leala Ruangtragool, Avi J Hakim, Thokozani Kalua, Rose Nyirenda, Gertrude Chipungu, Andrew Auld, Evelyn Kim, Danielle Payne, Nellie Wadonda-Kabondo, Christine West, Elizabeth Brennan, Beth Deutsch, Anteneh Worku, Sasi Jonnalagadda, Lloyd B Mulenga, Kumbutso Dzekedzeke, Danielle T Barradas, Haotian Cai, Sundeep Gupta, Stanley Kamocha, Margaret A Riggs, Karampreet Sachathep, Wilford Kirungi, Joshua Musinguzi, Alex Opio, Sam Biraro, Elizabeth Bancroft, Jennifer Galbraith, Herbert Kiyingi, Mansoor Farahani, Wolfgang Hladik, Edith Nyangoma, Choice Ginindza, Zandile Masangane, Fortune Mhlanga, Zandile Mnisi, Pasipamire Munyaradzi, Amos Zwane, Sean Burke, Felix B Kayigamba, Harriet Nuwagaba-Biribonwoha, Ruben Sahabo, Trong T Ao, Chiara Draghi, Caroline Ryan, Neena M Philip, Fausta Mosha, Aroldia Mulokozi, Phausta Ntigiti, Angela A Ramadhani, Geoffrey R Somi, Cecilia Makafu, Veronicah Mugisha, Julius Zelothe, Kayla Lavilla, David W Lowrance, Rennatus Mdodo, Elizabeth Gummerson, Paul Stupp, Kyaw Thin, Koen Frederix, Stefania Davia, Amee M Schwitters, Stephen D McCracken, Yen T Duong, David Hoos, Bharat Parekh, Jessica E Justman, Andrew C Voetsch
In 2016, an estimated 1.5 million females aged 15-24 years were living with human immunodeficiency virus (HIV) infection in Eastern and Southern Africa, where the prevalence of HIV infection among adolescent girls and young women (3.4%) is more than double that for males in the same age range (1.6%) (1). Progress was assessed toward the Joint United Nations Programme on HIV/AIDS (UNAIDS) 2020 targets for adolescent girls and young women in sub-Saharan Africa (90% of those with HIV infection aware of their status, 90% of HIV-infected persons aware of their status on antiretroviral treatment [ART], and 90% of those on treatment virally suppressed [HIV viral load <1,000 HIV RNA copies/mL]) (2) using data from recent Population-based HIV Impact Assessment (PHIA) surveys in seven countries...
January 12, 2018: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29326380/neuroendovascular-management-of-emergent-large-vessel-occlusion-update-on-the-technical-aspects-and-standards-of-practice-by-the-standards-and-guidelines-committee-of-the-society-of-neurointerventional-surgery
#14
Chirag D Gandhi, Fawaz Al Mufti, I Paul Singh, Todd Abruzzo, Barbara Albani, Sameer A Ansari, Adam S Arthur, Mark Bain, Blaise W Baxter, Ketan R Bulsara, Justin M Caplan, Michael Chen, Guilherme Dabus, Don Frei, Steven W Hetts, M Shazam Hussain, Mahesh V Jayaraman, Yasha Kayan, Richard P Klucznik, Seon-Kyu Lee, William J Mack, Thabele Leslie-Mazwi, Ryan A McTaggart, Philip M Meyers, Maxim Mokin, Athos T Patsalides, Charles J Prestigiacomo, G Lee Pride, Robert M Starke, Peter J Sunenshine, Justin F Fraser
No abstract text is available yet for this article.
January 11, 2018: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/29326268/mapping-the-malaria-parasite-druggable-genome-by-using-in-vitro-evolution-and-chemogenomics
#15
Annie N Cowell, Eva S Istvan, Amanda K Lukens, Maria G Gomez-Lorenzo, Manu Vanaerschot, Tomoyo Sakata-Kato, Erika L Flannery, Pamela Magistrado, Edward Owen, Matthew Abraham, Gregory LaMonte, Heather J Painter, Roy M Williams, Virginia Franco, Maria Linares, Ignacio Arriaga, Selina Bopp, Victoria C Corey, Nina F Gnädig, Olivia Coburn-Flynn, Christin Reimer, Purva Gupta, James M Murithi, Pedro A Moura, Olivia Fuchs, Erika Sasaki, Sang W Kim, Christine H Teng, Lawrence T Wang, Aslı Akidil, Sophie Adjalley, Paul A Willis, Dionicio Siegel, Olga Tanaseichuk, Yang Zhong, Yingyao Zhou, Manuel Llinás, Sabine Ottilie, Francisco-Javier Gamo, Marcus C S Lee, Daniel E Goldberg, David A Fidock, Dyann F Wirth, Elizabeth A Winzeler
Chemogenetic characterization through in vitro evolution combined with whole-genome analysis can identify antimalarial drug targets and drug-resistance genes. We performed a genome analysis of 262 Plasmodium falciparum parasites resistant to 37 diverse compounds. We found 159 gene amplifications and 148 nonsynonymous changes in 83 genes associated with drug-resistance acquisition, where gene amplifications contributed to one-third of resistance acquisition events. Beyond confirming previously identified multidrug-resistance mechanisms, we discovered hitherto unrecognized drug target-inhibitor pairs, including thymidylate synthase and a benzoquinazolinone, farnesyltransferase and a pyrimidinedione, and a dipeptidylpeptidase and an arylurea...
January 12, 2018: Science
https://www.readbyqxmd.com/read/29320704/extracellular-vesicles-provide-a-means-for-tissue-crosstalk-during-exercise
#16
Martin Whitham, Benjamin L Parker, Martin Friedrichsen, Janne R Hingst, Marit Hjorth, William E Hughes, Casey L Egan, Lena Cron, Kevin I Watt, Rhiannon P Kuchel, Navind Jayasooriah, Emma Estevez, Tim Petzold, Catherine M Suter, Paul Gregorevic, Bente Kiens, Erik A Richter, David E James, Jørgen F P Wojtaszewski, Mark A Febbraio
Exercise stimulates the release of molecules into the circulation, supporting the concept that inter-tissue signaling proteins are important mediators of adaptations to exercise. Recognizing that many circulating proteins are packaged in extracellular vesicles (EVs), we employed quantitative proteomic techniques to characterize the exercise-induced secretion of EV-contained proteins. Following a 1-hr bout of cycling exercise in healthy humans, we observed an increase in the circulation of over 300 proteins, with a notable enrichment of several classes of proteins that compose exosomes and small vesicles...
January 9, 2018: Cell Metabolism
https://www.readbyqxmd.com/read/29320680/k-ras4b-remains-monomeric-on-membranes-over-a%C3%A2-wide-range-of%C3%A2-surface-densities-and-lipid-compositions
#17
Jean K Chung, Young Kwang Lee, John-Paul Denson, William K Gillette, Steven Alvarez, Andrew G Stephen, Jay T Groves
Ras is a membrane-anchored signaling protein that serves as a hub for many signaling pathways and also plays a prominent role in cancer. The intrinsic behavior of Ras on the membrane has captivated the biophysics community in recent years, especially the possibility that it may form dimers. In this article, we describe results from a comprehensive series of experiments using fluorescence correlation spectroscopy and single-molecule tracking to probe the possible dimerization of natively expressed and fully processed K-Ras4B in supported lipid bilayer membranes...
January 9, 2018: Biophysical Journal
https://www.readbyqxmd.com/read/29318659/memristor-based-analog-computation-and-neural-network-classification-with-a-dot-product-engine
#18
Miao Hu, Catherine E Graves, Can Li, Yunning Li, Ning Ge, Eric Montgomery, Noraica Davila, Hao Jiang, R Stanley Williams, J Joshua Yang, Qiangfei Xia, John Paul Strachan
Using memristor crossbar arrays to accelerate computations is a promising approach to efficiently implement algorithms in deep neural networks. Early demonstrations, however, are limited to simulations or small-scale problems primarily due to materials and device challenges that limit the size of the memristor crossbar arrays that can be reliably programmed to stable and analog values, which is the focus of the current work. High-precision analog tuning and control of memristor cells across a 128 × 64 array is demonstrated, and the resulting vector matrix multiplication (VMM) computing precision is evaluated...
January 10, 2018: Advanced Materials
https://www.readbyqxmd.com/read/29318628/the-international-wao-eaaci-guideline-for-the-management-of-hereditary-angioedema-the-2017-revision-and-update
#19
Marcus Maurer, Markus Magerl, Ignacio Ansotegui, Emel Aygören Pürsün, Stephen Betschel, Konrad Bork, Tom Bowen, Henrik Balle Boysen, Henriette Farkas, Anete Grumach, Michihiro Hide, Constance Katelaris, Richard Lockey, Hilary Longhurst, William Lumry, Inmaculada Martinez-Saguer, Dumitru Moldovan, Alexander Nast, Ruby Pawankar, Paul Potter, Marc Riedl, Bruce Ritchie, Lanny Rosenwasser, Mario Sánchez-Borges, Yuxiang Zhi, Bruce Zuraw, Timothy Craig
Hereditary angioedema (HAE) is a rare disease and a serious health problem, globally and for affected patients and their families. The pathophysiological background is primarily a vascular reaction to an overshooting local production of bradykinin. Evidence-based recommendations are needed to inform and guide clinical decision makers. This is the first revision and update of the global guideline for the diagnosis and management of HAE[5]. It was developed by the World Allergy Organization (WAO) in collaboration with the European Academy of Allergy and Clinical Immunology (EAACI)...
January 10, 2018: Allergy
https://www.readbyqxmd.com/read/29315962/multiple-dicer1-related-tumors-in-a-child-with-a-large-interstitial-14q32-deletion
#20
Leanne de Kock, Dominique Geoffrion, Barbara Rivera, Rabea Wagener, Nelly Sabbaghian, Susanne Bens, Benjamin Ellezam, Dorothée Bouron-Dal Soglio, Jessica Ordóñez, Stephanie Sacharow, Jose Fernando Polo Nieto, R Paul Guillerman, Gordan M Vujanic, John R Priest, Reiner Siebert, William D Foulkes
Germ-line interstitial deletions involving the 14q32 chromosomal region, resulting in 14q32 deletion syndrome, are rare. DICER1 is a recently described cancer-predisposition gene located at 14q32.13. We report the case of a male child with an approximately 5.8 Mbp 14q32.13q32.2 germ-line deletion, which included the full DICER1 locus. We reviewed available clinical and pathological material, and conducted genetic analyses. In addition to having congenital dysmorphic features, the child developed multiple DICER1 syndrome-related tumors before age 5 years: a pediatric cystic nephroma (pCN), a ciliary body medulloepithelioma (CBME), and a small lung cyst (consistent with occult pleuropulmonary blastoma Type I/Ir cysts seen in DICER1 mutation carriers)...
January 9, 2018: Genes, Chromosomes & Cancer
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