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https://www.readbyqxmd.com/read/28095804/pulmonary-manifestations-in-niemann-pick-type-c-disease-with-mutations-in-npc2-gene-case-report-and-review-of-literature
#1
Jayesh Sheth, Jijo John Joseph, Krati Shah, Mamta Muranjan, Mehul Mistri, Frenny Sheth
BACKGROUND: Niemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ systems being involved. NPC1 gene is involved in 95% cases where as remaining ~5% cases are linked with NPC2 gene. CASE PRESENTATION: Case-1, a 14-months-old female presented with recurrent respiratory distress, failure to thrive and hepatosplenomegaly...
January 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28092902/morphology-of-niemann-pick-type-c-metabolic-storage-disorder
#2
Robin M Ireland
No abstract text is available yet for this article.
August 25, 2016: Blood
https://www.readbyqxmd.com/read/28092897/bone-marrow-smear-examination-in-the-diagnosis-of-niemann-pick-b-disease
#3
Barbara Foucher, Liliana Vila
No abstract text is available yet for this article.
August 4, 2016: Blood
https://www.readbyqxmd.com/read/28092091/preliminary-results-on-long-term-potentiation-like-cortical-plasticity-and-cholinergic-dysfunction-after-miglustat-treatment-in-niemann-pick-disease-type-c
#4
Alberto Benussi, Maria Sofia Cotelli, Maura Cosseddu, Valeria Bertasi, Marinella Turla, Ettore Salsano, Andrea Dardis, Alessandro Padovani, Barbara Borroni
Niemann-Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder, which manifests clinically with a wide range of neurological signs and symptoms. We assessed multiple neurological, neuropsychological and neurophysiological biomarkers using a transcranial magnetic stimulation (TMS) multi-paradigm approach in two patients with NPC carrying a homozygous mutation in the NPC1 gene, and in two heterozygous family members.We assessed short-interval intracortical inhibition (SICI), intracortical facilitation (ICF), long-interval intracortical inhibition (LICI), short-latency afferent inhibition (SAI) and long-term potentiation (LTP)-like cortical plasticity with a paired associative stimulation (PAS) protocol...
January 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28088288/a-novel-mouse-model-of-staphylococcus-aureus-vascular-graft-infection-noninvasive-imaging-of-biofilm-development-in%C3%A2-vivo
#5
Hélène Van de Vyver, Philipp R Bovenkamp, Verena Hoerr, Katrin Schwegmann, Lorena Tuchscherr, Silke Niemann, Laura Kursawe, Christina Grosse, Annette Moter, Uwe Hansen, Ute Neugebauer, Michael T Kuhlmann, Georg Peters, Sven Hermann, Bettina Löffler
Staphylococcus aureus causes very serious infections of vascular grafts. Knowledge of the molecular mechanisms of this disease is largely lacking because of the absence of representable models. Therefore, the aim of this study was to set up a mouse model of vascular graft infections that closely mimics the human situation. A catheter was inserted into the right carotid artery of mice, which acted as a vascular graft. Mice were infected i.v. using 8 different S. aureus strains, and development of the infection was followed up...
January 4, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28087213/cholesterolomics-an-update
#6
William J Griffiths, Jonas Abdel-Khalik, Eylan Yutuc, Alwena H Morgan, Ian Gilmore, Thomas Hearn, Yuqin Wang
Cholesterolomics can be regarded as the identification and quantification of cholesterol, its precursors post squalene, and metabolites of cholesterol and of its precursors, in a biological sample. These molecules include 1,25-dihydroxyvitamin D3, steroid hormones and bile acids and intermediates in their respective biosynthetic pathways. In this short article we will concentrate our attention on intermediates in bile acid biosynthesis pathways, in particular oxysterols and cholestenoic acids. These molecular classes are implicated in the aetiology of a diverse array of diseases including autoimmune disease, Parkinson's disease, motor neuron disease, breast cancer, the lysosomal storage disease Niemann-Pick type C and the autosomal recessive disorder Smith-Lemli-Opitz syndrome...
January 10, 2017: Analytical Biochemistry
https://www.readbyqxmd.com/read/28074416/proceedings-of-r%C3%A3-animation-2017-the-french-intensive-care-society-international-congress
#7
Chtara Kamilia, Kais Regaieg, Najeh Baccouch, Hedi Chelly, Mabrouk Bahloul, Mounir Bouaziz, Ali Jendoubi, Ahmed Abbes, Houda Belhaouane, Oussama Nasri, Layla Jenzri, Salma Ghedira, Mohamed Houissa, Kamal Belkadi, Youness Harti, Afak Nsiri, Khalid Khaleq, Driss Hamoudi, Rachid Harrar, Camille Thieffry, Frédéric Wallet, Erika Parmentier-Decrucq, Raphaël Favory, Daniel Mathieu, Julien Poissy, Thomas Lafon, Philippe Vignon, Emmanuelle Begot, Alexandra Appert, Mathilde Hadj, Paul Claverie, Morgan Matt, Olivier Barraud, Bruno François, Amira Jamoussi, Amira Ben Jazia, Takoua Marhbène, Dhouha Lakhdhar, Jalila Ben Khelil, Mohamed Besbes, Julien Goutay, Caroline Blazejewski, Isabelle Joly-Durand, Isabelle Pirlet, Marie Pierre Weillaert, Sebastien Beague, Soufi Aziz, Reda Hafiane, Khalid Hattabi, Mohamed Aziz Bouhouri, Driss Hammoudi, Abdelaziz Fadil, Rachid Al Harrar, Khalid Zerouali, Fatma Kaaniche Medhioub, Rania Allela, Najla Ben Algia, Samar Cherif, Mohamed Taoufik Slaoui, Souhail Boubia, Y Hafiani, A Khaoudi, R Cherkab, W Elallam, C Elkettani, L Barrou, M Ridaii, Rihi El Mehdi, Caroline Schimpf, Assaf Mizrahi, Benoît Pilmis, Alban Le Monnier, Kelly Tiercelet, Mélanie Cherin, Cédric Bruel, Francois Philippart, Sébastien Bailly, Jc Lucet, Alain Lepape, François L'hériteau, Martine Aupée, Caroline Bervas, Sandrine Boussat, Anne Berger-Carbonne, Anaïs Machut, Anne Savey, Jean-François Timsit, Keyvan Razazi, Jérémy Rosman, Nicolas de Prost, Guillaume Carteaux, Chloe Jansen, Jean Winoc Decousser, Christian Brun-Buisson, Armand Mekontso Dessap, Aymen M'rad, Zouhour Ouali, Manel Barghouth, Achille Kouatchet, Rafael Mahieu, Emmanuel Weiss, David Schnell, Jean-Ralph Zahar, Margaux Artiguenave, Paktoris-Papine Sophie, Florence Espinasse, Faten El Sayed, Aurélien Dinh, Cyril Charron, Guillaume Geri, Antoine Vieillard-Baron, Xavier Repessé, Hatem Kallel, Claire Mayence, Stéphanie Houcke, Pascal Guegueniat, Didier Hommel, Kaouther Dhifaoui, Zied Hajjej, Amira Fatnassi, Walid Sellami, Iheb Labbene, Mustapha Ferjani, Fahmi Dachraoui, Sabrine Nakkaa, Abdelwaheb M'ghirbi, Ali Adhieb, Dhouha Ben Braiek, Kmar Hraiech, Ali Ousji, Islem Ouanes, Hammouda Zaineb, Saousen Ben Abdallah, Lamia Ouanes-Besbes, Fekri Abroug, Simon Klein, Mattéo Miquet, Jean-Marc Thouret, Vincent Peigne, Jean-Louis Daban, Mathieu Boutonnet, Bernard Lenoir, Takoua Merhbene, Celine Derreumaux, Thierry Seguin, Jean-Marie Conil, Charlotte Kelway, Valery Blasco, Cyril Nafati, Karim Harti, Laurent Reydellet, Jacques Albanese, Narjess Ben Aicha, Khaoula Meddeb, Ahmed Khedher, Jihene Ayachi, Nesrine Fraj, Nesrine Sma, Imed Chouchene, Mohamed Boussarsar, Soumaya Ben Yedder, Walid Samoud, Bousselmi Radhouene, Bousselmi Mariem, Asma Ammar, Asma Ben Cheikh, Hend Ben Lakhal, Messaouda Khelfa, Yamina Hamdaoui, Nabiha Bouafia, Timothée Trampont, Thomas Daix, Vincent Legarçon, Henri Hani Karam, Nicolas Pichon, Fatma Essafi, Nasreddine Foudhaili, Hafedh Thabet, Youssef Blel, Nozha Brahmi, Hanane Ezzouine, Mahmoud Kerrous, Saad El Haoui, Soufiane Ahdil, Abdellatif Benslama, Khalid Abidi, Tarek Dendane, Ssouni Oussama, Jihane Belayachi, Naoufal Madani, Redouane Abouqal, Amine Ali Zeggwagh, Hatem Ghadhoune, Anis Chaari, Guissouma Jihene, Hend Allouche, Insaf Trabelsi, Habib Brahmi, Mohamed Samet, Hatem El Ghord, Ben Sik Ali Habiba, Nouira Hajer, Najla Tilouch, Sondes Yaakoubi, Oussama Jaoued, Rim Gharbi, Mohamed Fekih Hassen, Souheil Elatrous, Julien Arcizet, Bertrand Leroy, Caroline Abdulmalack, Catherine Renzullo, Maël Hamet, Jean-Marc Doise, Jérôme Coutet, Chaigar Mohammed Cheikh, Zakaria Quechar, Magalie Joris, Dimitri Titeca Beauport, Loay Kontar, Delphine Lebon, Bérengère Gruson, Michel Slama, Jean-Pierre Marolleau, Julien Maizel, Julie Gorham, Lieveke Ameye, Thierry Berghmans, Marianne Paesmans, Jean-Paul Sculier, Anne-Pascale Meert, Max Guillot, Marie-Pierre Ledoux, Thierry Braun, Quentin Maestraggi, Baptiste Michard, Vincent Castelain, Raoul Herbrecht, Francis Schneider, Severine Couffin, David Lobo, Nicolas Mongardon, Gilles Dhonneur, Roman Mounier, Pierrick Le Borgne, Sophie Couraud, Jean-Etienne Herbrecht, Alexandra Boivin, François Lefebvre, Pascal Bilbault, Setti-Aouicha Zelmat, Djamila-Djahida Batouche, Fatima Mazour, Belkacem Chaffi, Nadia Benatta, Ali Habiba Sik, I Talik, Maxime Perrier, Eliane Gouteix, Claude Koubi, Annabelle Escavy, Victoria Guilbaut, Jean-Philippe Fosse, Rahma Ben Jazia, Ahmed Abdelghani, Pierre-Julien Cungi, Julien Bordes, Cédric Nguyen, Candice Pierrou, Maximilien Cruc, Alain Benois, Frédéric Duprez, Thierry Bonus, Grégory Cuvelier, Sandra Ollieuz, Sharam Machayekhi, Frédéric Paciorkowski, Gregory Reychler, Remi Coudroy, Arnaud W Thille, Xavier Drouot, Véronique Diaz, Jean-Claude Meurice, René Robert, Olfa Turki, Hmida Chokri Ben, Mona Assefi, Romain Deransy, Hélène Brisson, Antoine Monsel, Filomena Conti, Olivier Scatton, Olivier Langeron, Hassen Ben Ghezala, Salah Snouda, Chiekh Imen Ben, Moez Kaddour, Anwar Armel, Lafrikh Youness, Bensaid Abdelhak, Miloudi Youssef, Al Harrar Najib, Amouzoun Mustapha, Mtioui Noufel, Zamd Mohamed, El Khayat Salma, Medkouri Ghizlane, Benghanam Mohamed, Ramdani Benyounes, Florent Montini, Sébastien Moschietto, Emilien Gregoire, Guillaume Claisse, Julien Guiot, Philippe Morimont, Jean-Marie Krzesinski, Christophe Mariat, Bernard Lambermont, Etienne Cavalier, Pierre Delanaye, Soumia Benbernou, Sofiane Ilies, Abdelkader Azza, Khalida Bouyacoub, Meriem Louail, Houria Mokhtari-Djebli, Romain Arrestier, Fabrice Daviaud, Xavier Laborne Francois, Elsa Brocas, Gérald Choukroun, Oscar Peñuelas, José-Angel Lorente, Pablo Cardinal-Fernandez, José-Maria Rodriguez, José-Antonio Aramburu, Andres Esteban, Fernando Frutos-Vivar, Laurent Bitker, Nicolas Costes, Didier Le Bars, Franck Lavenne, Mojgan Devouassoux, Jean-Christophe Richard, Malika Mechati, Marc Gainnier, Laurent Papazian, Christophe Guervilly, Aude Garnero, Jean Michel Arnal, Hadrien Roze, Jean Christophe Richard, Benjamin Repusseau, Antoine Dewitte, Olivier Joannes-Boyau, Alexandre Ouattara, Nadia Harbouze, A M Amine, A G Olandzobo, Alexandre Herbland, Marie Richard, Nicolas Girard, Lucile Lambron, Olivier Lesieur, Sarah Wainschtein, Sidonie Hubert, Albane Hugues, Marc Tran, Philippe Bouillard, Vlad Loteanu, Maxime Leloup, Alexandra Laurent, Florent Lheureux, Alessia Prestifilippo, Martin Delgado Maria Cruz, Rigal Romain, Massimo Antonelli, Torra Lluis Blanch, Franck Bonnetain, Maria Grazzia-Bocci, Jordi Mancebo, Emmanuel Samain, Hebert Paul, Gilles Capellier, Taissa Zavgorodniaia, Marion Soichot, Isabelle Malissin, Sebastian Voicu, Pierre Garçon, Antoine Goury, Lamia Kerdjana, Nicolas Deye, Emmanuel Bourgogne, Bruno Megarbane, Olfa Mejri, Marwa Ben Hmida, Salma Tannous, Lucie Chevillard, Laurence Labat, Patricia Risede, Hana Fredj, Maxime Léger, Marion Brunet, Gaël Le Roux, David Boels, Nicolas Lerolle, Souaad Farah, Hélène Amiel-Niemann, Nathalie Kubis, Xavier Declèves, Nicoals Peyraux, Frederic Baud, Micaela Serafini, Jean-Claude Alvarez, Annette Heinzelman, Mathieu Jozwiak, Sandrine Millasseau, Jean-Louis Teboul, Jean-Emmanuel Alphonsine, François Depret, Nathalie Richard, Pierre Attal, Christian Richard, Xavier Monnet, Denis Chemla, Salma Jerbi, Wafa Khedhiri, Hatem Necib, Paolo Scarfo, Charles Chevalier, Michael Piagnerelli, Alexandre Lafont, Antoine Galy, Claire Mancia, Amel Zerhouni, Kheira Tabeliouna, Ali Gaja, Bassem Hamrouni, Abir Malouch, Sami Fourati, Rihab Messaoud, Youssef Zarrouki, Amra Ziadi, Manal Rhezali, Zahira Zouizra, Drissi Boumzebra, Mohamed Abdennasser Samkaoui, Jennifer Brunet, Bertrand Canoville, Pierre Verrier, Calin Ivascau, Amélie Seguin, Xavier Valette, Damien Du Cheyron, Cedric Daubin, Wulfran Bougouin, Nadia Aissaoui, Lionel Lamhaut, Daniel Jost, Carole Maupain, Frankie Beganton, Adrien Bouglé, Florence Dumas, Eloi Marijon, Xavier Jouven, Alain Cariou, Florent Poirson, Ulriikka Chaput, Thomas Beeken, Leclerc Maxime, Oueslati Haikel, Dominique Vodovar, Jonathan Chelly, Philippe Marteau, Richard Chocron, Philippe Juvin, Thomas Loeb, Frederic Adnet, Eric Lecarpentier, Antoine Riviere, Bertand De Cagny, Thierry Soupison, Elodie Privat, Joséphine Escutnaire, Cyrielle Dumont, Valentine Baert, Christian Vilhelm, Hervé Hubert, Stéphane Leteurtre, Marion Fresco, Michael Bubenheim, Gaetan Beduneau, Dorothée Carpentier, Steven Grange, Elise Artaud-Macari, Benoit Misset, Fabienne Tamion, Christophe Girault, Guillaume Dumas, Sylvie Chevret, Virginie Lemiale, Djamel Mokart, Julien Mayaux, Frédéric Pène, Martine Nyunga, Pierre Perez, Anne-Sophie Moreau, Fabrice Bruneel, François Vincent, Kada Klouche, Jean Reignier, Antoine Rabbat, Elie Azoulay, Jean-Pierre Frat, Stéphanie Ragot, Jean-Michel Constantin, Gwenael Prat, Alain Mercat, Thierry Boulain, Alexandre Demoule, Jérôme Devaquet, Saad Nseir, Julien Charpentier, Laurent Argaud, Pascal Beuret, Jean-Damien Ricard, Christelle Teiten, Nicolas Marjanovic, Nicola Palamin, Erwan L'Her, Arthur Bailly, Julie Boisramé-Helms, Benoit Champigneulle, Toufik Kamel, Emmanuelle Mercier, Aurélie Le Thuaut, Jean-Baptiste Lascarrou, Amélie Rolle, Audrey De Jong, Gérald Chanques, Samir Jaber, Geoffroy Hariri, Jean-Luc Baudel, Vincent Dubée, Gabriel Preda, Simon Bourcier, Jeremie Joffre, Naïke Bigé, Hafid Ait-Oufella, Eric Maury, Houda Mater, Hamid Merdji, David Grimaldi, Christophe Rousseau, Jean-Paul Mira, Jean-Daniel Chiche, Ines Sedghiani, A Benabderrahim, Dhekra Hamdi, Asma Jendoubi, Mohamed Ali Cherif, Youssef Zied El Hechmi, Jerbi Zouheir, François Bagate, Radhwen Bousselmi, Frédérique Schortgen, Pierre Asfar, Emmanuel Guérot, Grelon Fabien, Nadia Anguel, Lasocki Sigismond, Henry-Lagarrigue Matthieu, Frédéric Gonzalez, Legay François, Christophe Guitton, Maleka Schenck, Doise Jean-Marc, Didier Dreyfuss, Peter Radermacher, Antoine Frère, Laurent Martin-Lefèvre, Gwenhaël Colin, Maud Fiancette, Matthieu Henry-Laguarrigue, Jean-Claude Lacherade, Christine Lebert, Isabelle Vinatier, Aihem Yehia, Aurélie Joret, Nicolas Menunier-Beillard, Dalila Benzekri-Lefevre, Arnaud Desachy, Fréderic Bellec, Gaëtan Plantefève, Jean-Pierre Quenot, Ferhat Meziani, Elsa Tavernier, Stephan Ehrmann, Nicolas Chudeau, Tommy Raveau, Valérie Moal, Pascal Houillier, Emmanuelle Rouve, Karim Lakhal, Charlotte Salmon Gandonnière, Youenn Jouan, Laetitia Bodet-Contentin, Adrien Balmier, Jonathan Messika, Etienne De Montmollin, Victorine Pouyet, Benjamin Sztrymf, Abirami Thiagarajah, Damien Roux, Marc Pineton De Chambrun, Charles-Edouard Luyt, François Beloncle, Nathalie Zapella, Stanislas Ledochowsky, Nicolas Terzi, Jean-Marc Mazou, Romain Sonneville, Sylvie Paulus, Yannick Fedun, Mickael Landais, Jean-Herlé Raphalen, Alain Combes, Zahir Amoura, Aemilia Jacquemin, Felipe Guerrero, Bertrand Marcheix, Nicolas Hernandez, Olivier Fourcade, Bernard Georges, Clément Delmas, Sarah Makoudi, Audrey Genton, Rémy Bernard, Guillaume Lebreton, Julien Amour, Charlotte Mazet, Fanny Bounes, Gurbuz Murat, Laure Cronier, Guillaume Robin, Caroline Biendel, Stein Silva, Samia Boubeche, Caroline Abriou, Véronique Wurtz, Vincent Scherrer, Nathalie Rey, Gioia Gastaldi, Benoit Veber, Fabien Doguet, Arnaud Gay, Bertrand Dureuil, Emmanuel Besnier, Antoine Rouget, Guillaume Gantois, Eric Magalhaes, Ruben Wanono, Roland Smonig, Mathilde Lermuzeaux, Jordane Lebut, Andremont Olivier, Claire Dupuis, Aguila Radjou, Bruno Mourvillier, Mathilde Neuville, Marie Pia D'ortho, Lila Bouadma, Anny Rouvel-Tallec, Marika Rudler, Nicolas Weiss, Vincent Perlbarg, Damien Galanaud, Dominique Thabut, Emna Rachdi, Ghada Mhamdi, Ahlem Trifi, Rim Abdelmalek, Sami Abdellatif, Foued Daly, Rochdi Nasri, Hanene Tiouiri, Salah Ben Lakhal, Geoffroy Rousseau, Romain Asmolov, Leslie Grammatico-Guillon, Adrien Auvet, Said Laribi, Denis Garot, Pierre François Dequin, Antoine Guillon, Jean-Louis Fergé, Gwénolé Abgrall, Ronan Hinault, Shazima Vally, Benoit Roze, Agathe Chaplain, Cyrille Chabartier, Anne-Charlotte Savidan, Sabia Marie, Andre Cabie, Dabor Resiere, Ruddy Valentino, Hossein Mehdaoui, Lucas Benarous, Marième Soda-Diop, Fouad Bouzana, Gilles Perrin, Jeremy Bourenne, Béatrice Eon, Dominique Lambert, Agnes Trebuchon, Géraldine Poncelet, Fleur Le Bourgeois, Levy Michael, Guillot Camille, Jérôme Naudin, Anna Deho, Stéphane Dauger, Michaël Sauthier, Krystale Bergeron-Gallant, Guillaume Emeriaud, Philippe Jouvet, Nicolas Tiebergien, Matthias Jacquet-Lagrèze, Jean-Luc Fellahi, Florent Baudin, Sandrine Essouri, Etienne Javouhey, Claude Guérin, Marie Lampin, Ouardia Mamouri, Patrick Devos, Yasemin Karaca-Altintas, Matthieu Vinchon, David Brossier, Redha Eltaani, Sonia Teyssedre, Meyet Sabine, Jean-Christophe Bouchut, Olivier Peguet, Lucie Petitdemange, Anne Sophie Guilbert, Nabil Tabet Aoul, Zakaria Addou, Nabil Aouffen, Benqqa Anas, Samira Kalouch, Khalid Yaqini, Aziz Chlilek, Rchi Abdou, Perrine Gravellier, Julie Chantreuil, Nadine Travers, Antoine Listrat, Claire Le Reun, Geraldine Favrais, Zoe Coppere, Stéphane Blanot, Juliette Montmayeur, Régis Bronchard, Stephane Rolando, Gilles Orliaguet, Pierre-Louis Leger, Jérôme Rambaud, Emilie Thueux, Alexandra De Larrard, Véronique Berthelot, Julien Denot, Marie Reymond, Alain Amblard, Sarah Morin-Zorman, Etienne Lengliné, Claire Pichereau, Eric Mariotte, Canet Emmanuel, Julien Poujade, Guillaume Trumpff, Ralf Janssen-Langenstein, Marie-Line Harlay, Noorah Zaid, Nawel Ait-Ammar, Christine Bonnal, Jean-Claude Merle, Francoise Botterel, Eric Levesque, Zakaria Riad, Mehdi Mezidi, Hodane Yonis, Mylène Aublanc, Sophie Perinel-Ragey, Floriane Lissonde, Aurore Louf-Durier, Romain Tapponnier, Bruno Louis, Jean-Marie Forel, Magali Bisbal, Samuel Lehingue, Romain Rambaud, Mélanie Adda, Sami Hraiech, Elisa Marchi, Antoine Roch, Vincent Guerin, Sacha Rozencwajg, Matthieu Schmidt, Guillaume Hekimian, Nicolas Bréchot, Jean Louis Trouillet, Sébastien Besset, Guillaume Franchineau, Ania Nieszkowska, Leprince Pascal, Maud Loiselle, Chemam Sarah, Dangers Laurence, Thomas Guillemette, Alice Jacquens, Sebastien Kerever, Bertrand Guidet, Philippe Aegerter, Vincent Das, Muriel Fartoukh, Jan Hayon, Mathieu Desmard, Jean-Pierre Fulgencio, Benjamin Zuber, A Soufi, K Khaleq, D Hamoudi, Charlotte Garret, Matthieu Peron, Emmanuel Coron, Cédric Bretonnière, Etienne Audureau, Winters Audrey, Duvoux Christophe, Jacquelinet Christian, Azoulay Daniel, Feray Cyrille, Wissal Aissaoui, Kawtar Rghioui, Wafae Haddad, Houcine Barrou, Anna Carteaux-Taeib, Renato Lupinacci, Gilles Manceau, Florence Jeune, Christophe Tresallet, Sahar Habacha, Ines Fathallah, Aymen Zoubli, Rafaa Aloui, Nadia Kouraichi, Emilie Jouet, Julie Badin, Brice Fermier, Marc Feller, Mathieu Serie, Jérôme Pillot, William Marie, Chloé Gisbert-Mora, Camille Vinclair, Pierre Lesbordes, Pascal Mathieu, Fabienne De Brabant, Emmanuel Muller, Marie-Aline Robaux, Mikhael Giabicani, Antoine Marchalot, Stéphanie Gelinotte, Pierre Louis Declercq, Jean-Pierre Eraldi, François Bougerol, Nicolas Meunier-Beillard, Hervé Devilliers, Jean-Philippe Rigaud, Camille Verrière, Fanny Ardisson, Nancy Kentish-Barnes, Gwenaëlle Jacq, Akli Chermak, Alexandre Lautrette, Matthieu Legrand, Alexis Soummer, Guillaume Thiery, Alice Cottereau, Emmanuel Canet, Marie Caujolle, Jérôme Allyn, Dorothée Valance, Caroline Brulliard, Olivier Martinet, Julien Jabot, Thomas Gallas, David Vandroux, Nicolas Allou, Arthur Durand, Rémi Nevière, Florian Delguste, Eric Boulanger, Sebastien Preau, Ruste Martin, Hélène Cochet, Jean Pierre Ponthus, Virginie Amilien, Martial Tchir, Elise Barsam, Mohsen Ayoub, Jean Francois Georger, Izaute Guillame, Julie Assaraf, Simona Tripon, Maxime Mallet, Guilaume Barbara, Guillaume Louis, Stéphane Gaudry, Nicolas Barbarot, Angéline Jamet, Hervé Outin, Sébastien Gibot, Pierre-Edouard Bollaert, Mathilde Holleville, Stéphane Legriel, Anne Laure Chateauneuf, Sébastien Cavelot, Jean-Denis Moyer, Jean Pierre Bedos, Philippe Merle, Aurelie Laine, De Sa Natalie, Mathieu Cornuault, Jérome Libot, Karim Asehnoune, Bertrand Rozec, Jacques Dantal, Michel Videcoq, Thècle Degroote, Emmanuelle Jaillette, Farid Zerimech, Balduyck Malika, Jean-François Llitjos, Marlène Amara, Guillaume Lacave, Béatrice Pangon, José Mavinga, Joseph Nsiala Makunza, M E Mafuta, Yves Yanga, Amisi Eric, Jp Ilunga, Ma Kilembe, Fanny Alby-Laurent, Julie Toubiana, Amel Mokline, Achraf Laajili, Helmi Amri, Imene Rahmani, Nidhal Mensi, Lazheri Gharsallah, Sofiene Tlaili, Bahija Gasri, Rym Hammouda, Amen Allah Messadi, Pierre-Antoine Allain, Nathallie Gault, Catherine Paugam-Burtz, Arnaud Foucrier, Bassem Chatbri, Yousra Bourbiaa, Lamia Thabet, Arthur Neuschwander, Looten Vincent, Jennifer Beck, Chhor Vibol, Yavchitz Amelie, Matthieu Resche-Rigon, Jean MantzRomain Pirracchio, Côme Bureau, Maxens Decavèle, Sébastien Campion, Roukia Ainsouya, Marie-Cécile Niérat, Hélène Prodanovic, Mathieu Raux, Thomas Similowski, Bruno-Pierre Dubé, Suela Demiri, Martin Dres, Faten May, Hervé Quintard, Ilias Kounis, Faouzi Saliba, Stephane André, Marc Boudon, Philippe Ichai, Aline Younes, Lionel Nakad, Audrey Coilly, Teresa Antonini, Rodolphe Sobesky, Eleonora De Martin, Didier Samuel, Noemie Hubert, Mai-Anh Nay, Johann Auchabie, Bruno Giraudeau, Reignier Jean, Michaël Darmon, Stephane Ruckly, Maïté Garrouste-Orgeas, Elisabeth Gratia, Dany Goldgran-Toledano, Samir Jamali, Anne Sylvie Dumenil, Carole Schwebel, Laurent Brisard, Philippe Bizouarn, Thierry Lepoivre, Johanna Nicolet, Jean Christophe Rigal, Jean Christian Roussel, Cherifa Cheurfa, Julien Abily, Thomas Lescot, Isaline Page, Stéphanie Warnier, Monique Nys, Anne-Françoise Rousseau, Pierre Damas, Fabrice Uhel, Mathieu Lesouhaitier, Murielle Grégoire, Baptiste Gaudriot, Arnaud Gacouin, Yves Le Tulzo, Erwan Flecher, Karin Tarte, Jean-Marc Tadié, Quentin Georges, M Soares, Kyeongman Jeon, Sandra Oeyen, Chin Kook Rhee, Pascale Gruber, Marlies Ostermann, Quentin Hill, Peter Depuydt, Christelle Ferra, Alice Muller, Bourmaud Aurelie, Christopher Niles, Fabien Herbert, Sylviane Pied, Séverine Loridant, Nadine François, Anne Bignon, Boualem Sendid, Caroline Lemaitre, Celine Dupre, Aymen Zayene, Lucie Portier, Nathalie De Freitas Caires, Philippe Lassalle, Aymeric Le Neindre, Pascal Selot, Daniel Ferreiro, Maria Bonarek, Stépahen Henriot, Julie Rodriguez, Mara Taddei, Mauro Di Bari, Cheryl Hickmann, Diego Castanares-Zapatero, Louise Deldicque, Peter Van Den Bergh, Gilles Caty, Jean Roeseler, Marc Francaux, Pierre-François Laterre, Bastien Dupuis, Sharam Machayeckhi, Celine Sarfati, Alex Moore, Paula Mendialdua, Emilie Rodet, Catherine Pilorge, Francois Stephan, Saida Rezaiguia-Delclaux, Jonathan Dugernier, Michel Hesse, Thibaud Jumetz, Emilie Bialais, Virginie Depoortere, Jean Bernard Michotte, Xavier Wittebole, François Jamar
No abstract text is available yet for this article.
January 2017: Annals of Intensive Care
https://www.readbyqxmd.com/read/28074063/direct-in-vivo-evidence-for-increased-proliferation-of-cll-cells-in-lymph-nodes-compared-to-bone-marrow-and-peripheral-blood
#8
T M Herndon, S-S Chen, N S Saba, J Valdez, C Emson, M Gatmaitan, X Tian, T E Hughes, C Sun, D C Arthur, M Stetler-Stevenson, C M Yuan, C U Niemann, G E Marti, G Aue, S Soto, M Z H Farooqui, S E M Herman, N Chiorazzi, A Wiestner
Chronic Lymphocytic Leukemia (CLL) is a progressive malignancy of mature B-cells that involves the peripheral blood (PB), lymph nodes (LNs) and bone marrow (BM). While the majority of CLL cells are in a resting state, small populations of proliferating cells exist; however, the anatomical site of active cell proliferation remains to be definitively determined. Based on findings that CLL cells in LNs have increased expression of B-cell activation genes, we tested the hypothesis that the fraction of 'newly born' cells would be highest in the LNs...
January 11, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28071986/evaluation-of-a-two-year-routine-application-of-molecular-testing-of-thyroid-fine-needle-aspirations-fna-using-a-7-gene-panel-in-a-primary-referral-setting-in-germany
#9
Markus Eszlinger, Katharina Böhme, Maha Ullmann, Fabian Görke, Udo Siebolts, Anna Neumann, Christiane Franzius, Sabine Adam, Thomas Molwitz, Christian Landvogt, Bassam Amro, Anja Hach, Berit Feldmann, Dieter Graf, Antje Wefer, Rainer Niemann, Catharina Bullmann, Günther Klaushenke, Reinhard Santen, Gregor Tönshoff, Velimir Ivancevic, Andreas Kögler, Eberhard Bell, Bernd Lorenz, Gerald Kluge, Christoph Hartenstein, Ilka Ruschenburg, Ralf Paschke
BACKGROUND: Major differences with respect to the diagnostic performance of a "ruling in" approach in the pre-surgical diagnosis of indeterminate thyroid fine needle aspirations (FNAs) have been reported. Therefore, the aim of this prospective multicenter study was to investigate the specific diagnostic impact of mutation testing using a 7-gene-panel in a routine primary referral setting analyzing FNAs from endocrinology and nuclear medicine practices in Germany. METHODS: RNA and DNA was extracted from 564 routine air-dried FNA smears obtained from 64 physicians and cytologically graded by one experienced cytopathologist...
January 10, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28062666/cyclodextrin-has-conflicting-actions-on-autophagy-flux-in-vivo-in-brains-of-normal-and-alzheimer-model-mice
#10
Dun-Sheng Yang, Philip Stavrides, Asok Kumar, Ying Jiang, Panaiyur S Mohan, Masuo Ohno, Kostantin Dobrenis, Cristin D Davidson, Mitsuo Saito, Monika Pawlik, Chunfeng Huo, Steven U Walkley, Ralph A Nixon
2-hydroxypropyl-β-cyclodextrin (CYCLO), a modifier of cholesterol efflux from cellular membrane and endo-lysosomal compartments, reduces lysosomal lipid accumulations and has therapeutic effects in animal models of Niemann-Pick disease type C and several other neurodegenerative states. Here, we investigated CYCLO effects on autophagy in wild-type mice and TgCRND8 mice - an Alzheimer's Disease (AD) model exhibiting β-amyloidosis, neuronal autophagy deficits leading to protein and lipid accumulation within greatly enlarged autolysosomes...
January 5, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28057006/bisphenol-a-promotes-cholesterol-absorption-in-caco-2-cells-by-up-regulation-of-npc1l1-expression
#11
Dan Feng, Jun Zou, Shanshan Zhang, Xuechun Li, Peiyang Li, Minqi Lu
BACKGROUND: Bisphenol A (BPA), an commonly exposed environmental chemicals in humans, has been shown to have a hypercholesterolemic effect with molecular mechanism not clear. Since intestinal cholesterol absorption plays a major role in maintaining total body cholesterol homeostasis, the present study is to investigate whether BPA affects cholesterol absorption in the intestinal Caco-2 cells. METHODS: The Caco-2 cells were pretreated with BPA at different concentrations for 24 h and then incubated with radioactive micellar cholesterol for 2 h...
January 6, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28053217/high-interlaboratory-reproducibility-and-accuracy-of-next-generation-sequencing-based-bacterial-genotyping-in-a-ring-trial
#12
Alexander Mellmann, Paal Skytt Andersen, Stefan Bletz, Alexander W Friedrich, Thomas A Kohl, Berit Lilje, Stefan Niemann, Karola Prior, John W Rossen, Dag Harmsen
Today, next-generation whole genome sequencing (WGS) technology is increasingly used to determine the genetic relationship of bacteria on a nearly whole genome level for infection control purposes and molecular surveillance. Here, we conducted a multicenter ring-trial comprising five laboratories to determine the reproducibility and accuracy of WGS-based typing.The participating laboratories sequenced 20 blind-coded Staphylococcus aureus DNA samples using the 250 bp paired-end chemistry for library preparation in a single sequencing run on an Illumina Miseq sequencer...
January 4, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28053186/intracardiac-injection-of-aav9-npc1-significantly-ameliorates-purkinje-cell-death-and-behavioral-abnormalities-in-mouse-niemann-pick-type-c-disease
#13
Chang Xie, Xue-Min Gong, Jie Luo, Bo-Liang Li, Bao-Liang Song
Niemann-Pick type C (NPC) disease is a fatal, inherited neurodegenerative disorder caused by loss-of-function mutations in the NPC1 or NPC2 gene. There is no effective way to treat NPC disease. In this study, we used adeno-associated virus (AAV) serotype 9 to deliver a functional NPC1 gene systemically into NPC1-/- mice at postnatal day 4 (P4). One single AAV9-NPC1 injection resulted in robust NPC1 expression in various tissues including the brain, heart and lung. Strikingly, AAV9-mediated NPC1 delivery significantly promoted Purkinje cell survival, restored locomotor activity and coordination, as well as increased the lifespan of NPC1-/- mice...
January 4, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28050621/-a-two-faced-vitamin-folic-acid-prevention-or-promotion-of-colon-cancer
#14
Anke Weißenborn, Anke Ehlers, Karen-I Hirsch-Ernst, Alfonso Lampen, Birgit Niemann
In the late 1930s, it was discovered that liver and yeast extracts can be used to correct certain cases of megaloblastic anemia in pregnancy. The factor responsible for this was isolated from spinach leaves in the 1940s, and referred to as folate, a term derived from the Latin word folium for leaf. Folate is considered an essential nutrient for human beings. Folic acid, the synthetic form of the vitamin, is used in dietary supplements, medicines and fortified foods. Since the 1980s, it has been recommended that women who plan to become pregnant and pregnant women during the first trimester of pregnancy take folic acid supplements...
January 3, 2017: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://www.readbyqxmd.com/read/28039859/cholesterol-crystallisation-in-human-atherosclerosis-is-triggered-in-smooth-muscle-cells-during-the-transition-from-fatty-streak-to-fibroatheroma
#15
Benoît Ho-Tin-Noé, Sophie Vo, Richard Bayles, Stephen Ferrière, Hayette Ladjal, Sondes Toumi, Catherine Deschildre, Véronique Ollivier, Jean-Baptiste Michel
Recent studies have shown that in addition to being major constituents of the atheromatous core, solid cholesterol crystals (CCs) promote atherosclerotic lesion development and rupture by causing mechanical damage and exerting cytotoxic and pro-inflammatory effects. These findings suggest that targeting CCs might represent a therapeutic strategy for plaque stabilisation. However, little is known about how cholesterol crystallisation is initiated in human atherothrombotic disease. Here, we investigated these mechanisms...
December 31, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/28039078/molecular-monitoring-after-autologous-stem-cell-transplantation-and-preemptive-rituximab-treatment-of-molecular-relapse-results-from-the-nordic-mantle-cell-lymphoma-studies-mcl2-and-mcl3-with-median-follow-up-of-8-5-years
#16
Arne Kolstad, Lone Bredo Pedersen, Christian W Eskelund, Simon Husby, Kirsten Grønbæk, Mats Jerkeman, Anna Laurell, Riikka Räty, Erkki Elonen, Niels Smedegaard Andersen, Peter deNully Brown, Eva Kimby, Hans Bentzen, Christer Sundström, Mats Ehinger, Marja-Liisa Karjalainen-Lindsberg, Jan Delabie, Elisabeth Ralfkiær, Unn-Merete Fagerli, Herman Nilsson-Ehle, Grete Fossum Lauritzsen, Outi Kuittinen, Carsten Niemann, Christian Hartman Geisler
The main objectives of the present study were to monitor minimal residual disease (MRD) in the bone marrow of patients with mantle cell lymphoma (MCL) to predict clinical relapse and guide preemptive treatment with rituximab. Among the patients enrolled in 2 prospective trials by the Nordic Lymphoma Group, 183 who had completed autologous stem cell transplantation (ASCT) and in whom an MRD marker had been obtained were included in the our analysis. Fresh samples of bone marrow were analyzed for MRD by a combined standard nested and quantitative real-time PCR assay for Bcl-1/immunoglobulin heavy chain gene (IgH) and clonal IgH rearrangements...
December 27, 2016: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28031458/normalization-of-hepatic-homeostasis-in-the-npc1nmf164-mouse-model-of-niemann-pick-type-c-disease-treated-with-the-histone-deacetylase-inhibitor-vorinostat
#17
Andrew B Munkacsi, Natalie Hammond, Remy T Schneider, Dinindu S Senanayake, Katsumi Higaki, Kirill Lagutin, Stephen J Bloor, Daniel S Ory, Robert A Maue, Fannie W Chen, Antonio Hernandez-Ono, Nicole Dahlson, Joyce J Repa, Henry N Ginsberg, Yiannis A Ioannou, Stephen L Sturley
Niemann-Pick type C (NP-C) disease is a fatal genetic lipidosis for which there is no FDA-approved therapy. Vorinostat, an FDA-approved inhibitor of histone deacetylases, ameliorates lysosomal lipid accumulation in cultured NP-C patient fibroblasts. To assess the therapeutic potential of histone deacetylase inhibition, we pursued these in vitro observations in two murine models of NP-C disease. Npc1nmf164 mice, which express a missense mutation in the NPC1 gene, were treated intraperitoneally, from weaning, with the maximum tolerated dose of Vorinostat (150 mg/kg, 5 days per week)...
December 28, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28029334/patient-reported-outcomes-in-rare-lysosomal-storage-diseases-key-informant-interviews-and-a-systematic-review-protocol
#18
Patricia A Miller, Sohail M Mulla, Thomasin Adams-Webber, Yasmin Sivji, Gordon H Guyatt, Bradley C Johnston
OBJECTIVES: To investigate the use, challenges and opportunities associated with using patient-reported outcomes (PROs) in studies with patients with rare lysosomal storage diseases (LSDs), we conducted interviews with researchers and health technology assessment (HTA) experts, and developed the methods for a systematic review of the literature. The purpose of the review is to identify the psychometrically sound generic and disease-specific PROs used in studies with patients with five LSDs of interest: Fabry, Gaucher (Type I), Niemann-Pick (Type B) and Pompe diseases, and mucopolysaccharidosis (Types I and II)...
December 28, 2016: International Journal of Technology Assessment in Health Care
https://www.readbyqxmd.com/read/28029138/the-potential-of-cyclodextrins-as-novel-active-pharmaceutical-ingredients-a-short-overview
#19
REVIEW
Massimiliano Pio di Cagno
Cyclodextrins (CDs) are cyclic oligosaccharides of natural origin that were discovered more than 100 years ago. The peculiar cone-like conformation of the sugar ring, expressing a lipophilic cavity and a hydrophilic external surface, allows these substances to spontaneously complex poorly soluble compounds in an aqueous environment. For more than 50 years, these substances have found applicability in the pharmaceutical and food industries as solubilizing agents for poorly soluble chemical entities. Nowadays, several research groups all over the world are investigating their potential as active pharmaceutical ingredients (APIs) for the treatment of several illnesses (e...
December 25, 2016: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28027412/inhibitory-effect-of-ezetimibe-can-be-prevented-by-an-administration-interval-of-4%C3%A2-h-between-%C3%AE-tocopherol-and-ezetimibe
#20
Shunsuke Nashimoto, Yuki Sato, Yoh Takekuma, Mitsuru Sugawara
Tocopherol is used not only as an ethical drug but also as a supplement. In 2008, Narushima et al. reported that α-tocopherol is partly transported via an intestinal cholesterol transporter, Niemann-Pick C1-Like 1 (NPC1L1). Ezetimibe, a selective inhibitor of NPC1L1, is administered for a long time to inhibit cholesterol absorption and there is a possibility that absorption of α-tocopherol is also inhibited by ezetimibe. In this study, we investigated the influence of ezetimibe on the absorption of α-tocopherol with single administration and long-term administration...
December 27, 2016: Biopharmaceutics & Drug Disposition
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