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Dalmau, j

Javier Martinez-Picado, Paul J McLaren, Itziar Erkizia, Maureen P Martin, Susana Benet, Margalida Rotger, Judith Dalmau, Dan Ouchi, Steven M Wolinsky, Sudhir Penugonda, Huldrych F Günthard, Jacques Fellay, Mary Carrington, Nuria Izquierdo-Useros, Amalio Telenti
Siglec-1/CD169 is a myeloid-cell surface receptor critical for HIV-1 capture and infection of bystander target cells. To dissect the role of SIGLEC1 in natura, we scan a large population genetic database and identify a loss-of-function variant (Glu88Ter) that is found in ∼1% of healthy people. Exome analysis and direct genotyping of 4,233 HIV-1-infected individuals reveals two Glu88Ter homozygous and 97 heterozygous subjects, allowing the analysis of ex vivo and in vivo consequences of SIGLEC1 loss-of-function...
2016: Nature Communications
G E Maccaferri, A O Rossetti, J Dalmau, A Berney
BACKGROUND: Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a relatively newly identified autoimmune neuropsychiatric disorder that predominantly affects children and young adults. Although psychiatric symptoms are highly prevalent and frequently severe, it has mainly been reported in neurological, but not psychiatric, literature. Understanding this form of encephalitis, its quick diagnosis and which treatment to provide are of utmost importance for consultation-liaison (C-L) psychiatrists...
May 2016: Brain Disorders & Therapy
Jesús Planagumà, Holger Haselmann, Francesco Mannara, Mar Petit-Pedrol, Benedikt Grünewald, Esther Aguilar, Luise Röpke, Elena Martín-García, Maarten J Titulaer, Pablo Jercog, Francesc Graus, Rafael Maldonado, Christian Geis, Josep Dalmau
OBJECTIVE: To demonstrate that ephrin-B2 (the ligand of EphB2 receptor) antagonizes the pathogenic effects of patients' N-methyl-D-aspartate receptor (NMDAR) antibodies on memory and synaptic plasticity. METHODS: One hundred twenty-two C57BL/6J mice infused with cerebrospinal fluid (CSF) from patients with anti-NMDAR encephalitis or controls, with or without ephrin-B2, were investigated. CSF was infused through ventricular catheters connected to subcutaneous osmotic pumps over 14 days...
September 2016: Annals of Neurology
Agnes van Sonderen, Helena Ariño, Mar Petit-Pedrol, Frank Leypoldt, Peter Körtvélyessy, Klaus-Peter Wandinger, Eric Lancaster, Paul W Wirtz, Marco W J Schreurs, Peter A E Sillevis Smitt, Francesc Graus, Josep Dalmau, Maarten J Titulaer
OBJECTIVE: To report a large cohort of patients with antibodies against contactin-associated protein-like 2 (Caspr2) and provide the clinical spectrum of this disorder. METHODS: Serum and CSF samples were assessed at 2 neuroimmunology centers in Barcelona and Rotterdam. Patients were included if Caspr2 antibodies were confirmed with 2 independent techniques, including brain immunohistochemistry and cell-based assay. Clinical information was obtained by the authors or provided by treating physicians after patients' informed consent...
August 2, 2016: Neurology
Tanya J Williams, David R Benavides, Kelly-Ann Patrice, Josep O Dalmau, Alexandre Leon Ribeiro de Ávila, Dung T Le, Evan J Lipson, John C Probasco, Ellen M Mowry
IMPORTANCE: Paraneoplastic encephalitides usually precede a diagnosis of cancer and are often refractory to immunosuppressive therapy. Conversely, autoimmune encephalitides are reversible conditions that can occur in the presence or absence of cancer. OBJECTIVE: To report the induction of autoimmune encephalitis in 2 patients after treatment of metastatic cancer with a combination of the immune checkpoint inhibitors nivolumab and ipilimumab. DESIGN, SETTING, AND PARTICIPANTS: A retrospective case study was conducted of the clinical and management course of 2 patients with progressive, treatment-refractory metastatic cancer who were treated with a single dose each (concomitantly) of the immune checkpoint inhibitors nivolumab, 1 mg/kg, and ipilimumab, 3 mg/kg...
August 1, 2016: JAMA Neurology
Jessica A Panzer, Ronan Anand, Josep Dalmau, David R Lynch
No abstract text is available yet for this article.
June 3, 2016: Journal of Neuroimmunology
P Adamson, C Ader, M Andrews, N Anfimov, I Anghel, K Arms, E Arrieta-Diaz, A Aurisano, D S Ayres, C Backhouse, M Baird, B A Bambah, K Bays, R Bernstein, M Betancourt, V Bhatnagar, B Bhuyan, J Bian, K Biery, T Blackburn, V Bocean, D Bogert, A Bolshakova, M Bowden, C Bower, D Broemmelsiek, C Bromberg, G Brunetti, X Bu, A Butkevich, D Capista, E Catano-Mur, T R Chase, S Childress, B C Choudhary, B Chowdhury, T E Coan, J A B Coelho, M Colo, J Cooper, L Corwin, D Cronin-Hennessy, A Cunningham, G S Davies, J P Davies, M Del Tutto, P F Derwent, K N Deepthi, D Demuth, S Desai, G Deuerling, A Devan, J Dey, R Dharmapalan, P Ding, S Dixon, Z Djurcic, E C Dukes, H Duyang, R Ehrlich, G J Feldman, N Felt, E J Fenyves, E Flumerfelt, S Foulkes, M J Frank, W Freeman, M Gabrielyan, H R Gallagher, M Gebhard, T Ghosh, W Gilbert, A Giri, S Goadhouse, R A Gomes, L Goodenough, M C Goodman, V Grichine, N Grossman, R Group, J Grudzinski, V Guarino, B Guo, A Habig, T Handler, J Hartnell, R Hatcher, A Hatzikoutelis, K Heller, C Howcroft, J Huang, X Huang, J Hylen, M Ishitsuka, F Jediny, C Jensen, D Jensen, C Johnson, H Jostlein, G K Kafka, Y Kamyshkov, S M S Kasahara, S Kasetti, K Kephart, G Koizumi, S Kotelnikov, I Kourbanis, Z Krahn, V Kravtsov, A Kreymer, Ch Kulenberg, A Kumar, T Kutnink, R Kwarciancy, J Kwong, K Lang, A Lee, W M Lee, K Lee, S Lein, J Liu, M Lokajicek, J Lozier, Q Lu, P Lucas, S Luchuk, P Lukens, G Lukhanin, S Magill, K Maan, W A Mann, M L Marshak, M Martens, J Martincik, P Mason, K Matera, M Mathis, V Matveev, N Mayer, E McCluskey, R Mehdiyev, H Merritt, M D Messier, H Meyer, T Miao, D Michael, S P Mikheyev, W H Miller, S R Mishra, R Mohanta, A Moren, L Mualem, M Muether, S Mufson, J Musser, H B Newman, J K Nelson, E Niner, A Norman, J Nowak, Y Oksuzian, A Olshevskiy, J Oliver, T Olson, J Paley, P Pandey, A Para, R B Patterson, G Pawloski, N Pearson, D Perevalov, D Pershey, E Peterson, R Petti, S Phan-Budd, L Piccoli, A Pla-Dalmau, R K Plunkett, R Poling, B Potukuchi, F Psihas, D Pushka, X Qiu, N Raddatz, A Radovic, R A Rameika, R Ray, B Rebel, R Rechenmacher, B Reed, R Reilly, D Rocco, D Rodkin, K Ruddick, R Rusack, V Ryabov, K Sachdev, S Sahijpal, H Sahoo, O Samoylov, M C Sanchez, N Saoulidou, P Schlabach, J Schneps, R Schroeter, J Sepulveda-Quiroz, P Shanahan, B Sherwood, A Sheshukov, J Singh, V Singh, A Smith, D Smith, J Smolik, N Solomey, A Sotnikov, A Sousa, K Soustruznik, Y Stenkin, M Strait, L Suter, R L Talaga, M C Tamsett, S Tariq, P Tas, R J Tesarek, R B Thayyullathil, K Thomsen, X Tian, S C Tognini, R Toner, J Trevor, G Tzanakos, J Urheim, P Vahle, L Valerio, L Vinton, T Vrba, A V Waldron, B Wang, Z Wang, A Weber, A Wehmann, D Whittington, N Wilcer, R Wildberger, D Wildman, K Williams, S G Wojcicki, K Wood, M Xiao, T Xin, N Yadav, S Yang, S Zadorozhnyy, J Zalesak, B Zamorano, A Zhao, J Zirnstein, R Zwaska
We report results from the first search for ν_{μ}→ν_{e} transitions by the NOvA experiment. In an exposure equivalent to 2.74×10^{20} protons on target in the upgraded NuMI beam at Fermilab, we observe 6 events in the Far Detector, compared to a background expectation of 0.99±0.11(syst) events based on the Near Detector measurement. A secondary analysis observes 11 events with a background of 1.07±0.14(syst). The 3.3σ excess of events observed in the primary analysis disfavors 0.1π<δ_{CP}<0...
April 15, 2016: Physical Review Letters
Eugenia Martinez-Hernandez, Helena Ariño, Andrew McKeon, Takahiro Iizuka, Maarten J Titulaer, Mateus M Simabukuro, Eric Lancaster, Mar Petit-Pedrol, Jesús Planagumà, Yolanda Blanco, Robert J Harvey, Albert Saiz, Francesc Graus, Josep Dalmau
IMPORTANCE: Symptoms of stiff-person syndrome (SPS), stiff-limb syndrome (SLS), or progressive encephalomyelitis with rigidity, myoclonus, or other symptoms (SPS-plus) can occur with several autoantibodies, but the relative frequency of each antibody, syndrome specificity, and prognostic implications are unclear. OBJECTIVE: To report the clinical and immunologic findings of a large cohort of patients with stiff-person spectrum disorder (SPSD), including SPS, SLS, and SPS-plus...
June 1, 2016: JAMA Neurology
M Dalmau-Pastor, Y Yasui, J D Calder, J Karlsson, G M M J Kerkhoffs, J G Kennedy
The inferior extensor retinaculum (IER) is an aponeurotic structure, which is in continuation with the anterior part of the sural fascia. The IER has often been used to augment the reconstruction of the lateral ankle ligaments, for instance in the Broström-Gould procedure, with good outcomes reported. However, its anatomy has not been described in detail and only a few studies are available on this structure. The presence of a non-constant oblique supero-lateral band appears to be important. This structure defines whether the augmentation of the lateral ankle ligaments reconstruction is performed using true IER or only the anterior part of the sural fascia...
April 2016: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
Elena H Martinez-Lapiscina, Sam Arnow, James A Wilson, Shiv Saidha, Jana Lizrova Preiningerova, Timm Oberwahrenbrock, Alexander U Brandt, Luis E Pablo, Simone Guerrieri, Ines Gonzalez, Olivier Outteryck, Ann-Kristin Mueller, Phillip Albrecht, Wesley Chan, Sebastian Lukas, Lisanne J Balk, Clare Fraser, Jette L Frederiksen, Jennifer Resto, Teresa Frohman, Christian Cordano, Irati Zubizarreta, Magi Andorra, Bernardo Sanchez-Dalmau, Albert Saiz, Robert Bermel, Alexander Klistorner, Axel Petzold, Sven Schippling, Fiona Costello, Orhan Aktas, Patrick Vermersch, Celia Oreja-Guevara, Giancarlo Comi, Letizia Leocani, Elena Garcia-Martin, Friedemann Paul, Eva Havrdova, Elliot Frohman, Laura J Balcer, Ari J Green, Peter A Calabresi, Pablo Villoslada
BACKGROUND: Most patients with multiple sclerosis without previous optic neuritis have thinner retinal layers than healthy controls. We assessed the role of peripapillary retinal nerve fibre layer (pRNFL) thickness and macular volume in eyes with no history of optic neuritis as a biomarker of disability worsening in a cohort of patients with multiple sclerosis who had at least one eye without optic neuritis available. METHODS: In this multicentre, cohort study, we collected data about patients (age ≥16 years old) with clinically isolated syndrome, relapsing-remitting multiple sclerosis, and progressive multiple sclerosis...
May 2016: Lancet Neurology
Payam Dadvand, Xavier Bartoll, Xavier Basagaña, Albert Dalmau-Bueno, David Martinez, Albert Ambros, Marta Cirach, Margarita Triguero-Mas, Mireia Gascon, Carme Borrell, Mark J Nieuwenhuijsen
Green spaces are associated with improved health, but little is known about mechanisms underlying such association. We aimed to assess the association between greenness exposure and subjective general health (SGH) and to evaluate mental health status, social support, and physical activity as mediators of this association. This cross-sectional study was based on a population-based sample of 3461 adults residing in Barcelona, Spain (2011). We characterized outcome and mediators using the Health Survey of Barcelona...
May 2016: Environment International
J-L Sierra-Sánchez, F García-Sala-Bonmatí, A Martínez-González, C García-Dalmau, J-F Mañes-Ferrer, A Brotons-Oliver
BACKGROUND: Short implants (< 10 mm) are one of the treatment options available in cases of limited vertical bone. Although such implants are now widely used, there is controversy regarding their clinical reliability. The purpose of this paper is to evaluate the predictability of short implants as an alternative to technically more complex treatments in patients with atrophic maxillae, based on a systematic review of the literature and the analysis of the implant survival rates, changes in peri-implant bone level, and associated complications...
2016: Medicina Oral, Patología Oral y Cirugía Bucal
Francesc Graus, Maarten J Titulaer, Ramani Balu, Susanne Benseler, Christian G Bien, Tania Cellucci, Irene Cortese, Russell C Dale, Jeffrey M Gelfand, Michael Geschwind, Carol A Glaser, Jerome Honnorat, Romana Höftberger, Takahiro Iizuka, Sarosh R Irani, Eric Lancaster, Frank Leypoldt, Harald Prüss, Alexander Rae-Grant, Markus Reindl, Myrna R Rosenfeld, Kevin Rostásy, Albert Saiz, Arun Venkatesan, Angela Vincent, Klaus-Peter Wandinger, Patrick Waters, Josep Dalmau
Encephalitis is a severe inflammatory disorder of the brain with many possible causes and a complex differential diagnosis. Advances in autoimmune encephalitis research in the past 10 years have led to the identification of new syndromes and biomarkers that have transformed the diagnostic approach to these disorders. However, existing criteria for autoimmune encephalitis are too reliant on antibody testing and response to immunotherapy, which might delay the diagnosis. We reviewed the literature and gathered the experience of a team of experts with the aims of developing a practical, syndrome-based diagnostic approach to autoimmune encephalitis and providing guidelines to navigate through the differential diagnosis...
April 2016: Lancet Neurology
Santiago Ortiz-Perez, Magí Andorra, Bernardo Sanchez-Dalmau, Rubén Torres-Torres, David Calbet, Erika J Lampert, Salut Alba-Arbalat, Ana M Guerrero-Zamora, Irati Zubizarreta, Nuria Sola-Valls, Sara Llufriu, María Sepúlveda, Albert Saiz, Pablo Villoslada, Elena H Martinez-Lapiscina
Monitoring disease burden is an unmeet need in multiple sclerosis (MS). Identifying patients at high risk of disability progression will be useful for improving clinical-therapeutic decisions in clinical routine. To evaluate the role of visual field testing in non-optic neuritis eyes (non-ON eyes) as a biomarker of disability progression in MS. In 109 patients of the MS-VisualPath cohort, we evaluated the association between visual field abnormalities and global and cognitive disability markers and brain and retinal imaging markers of neuroaxonal injury using linear regression models adjusted for sex, age, disease duration and use of disease-modifying therapies...
April 2016: Journal of Neurology
M A Torralba, S Olivera, J C Bureo, J Dalmau, R Nuñez, P León, J Villarrubia
BACKGROUND: Gaucher disease (GD) is an autosomal recessive disorder produced by mutations in the glucocerebrosidase gene (GBA), causing storage of glucosylceramide in reticuloendothelial cells in multiple organs. Traditionally, the prediction of the phenotype based on the genotype has been reported to be limited. SUBJECTS AND METHODS: We investigated the correlation between the enzymatic residual activity (ERA) and the phenotype at diagnosis of the disease in 45 GD Spanish patients (44 with type I and 1 with type III GD)...
July 2016: QJM: Monthly Journal of the Association of Physicians
Maria J Dalmau, Manuel Barreiro, Javier López-Rodríguez, Maria Bueno, Elena Arnáiz, Adolfo Arévalo, Ana Martín, Jose M González-Santos
No abstract text is available yet for this article.
December 16, 2015: Journal of Cardiothoracic Surgery
Paul J McLaren, Cedric Coulonges, István Bartha, Tobias L Lenz, Aaron J Deutsch, Arman Bashirova, Susan Buchbinder, Mary N Carrington, Andrea Cossarizza, Judith Dalmau, Andrea De Luca, James J Goedert, Deepti Gurdasani, David W Haas, Joshua T Herbeck, Eric O Johnson, Gregory D Kirk, Olivier Lambotte, Ma Luo, Simon Mallal, Daniëlle van Manen, Javier Martinez-Picado, Laurence Meyer, José M Miro, James I Mullins, Niels Obel, Guido Poli, Manjinder S Sandhu, Hanneke Schuitemaker, Patrick R Shea, Ioannis Theodorou, Bruce D Walker, Amy C Weintrob, Cheryl A Winkler, Steven M Wolinsky, Soumya Raychaudhuri, David B Goldstein, Amalio Telenti, Paul I W de Bakker, Jean-François Zagury, Jacques Fellay
Previous genome-wide association studies (GWAS) of HIV-1-infected populations have been underpowered to detect common variants with moderate impact on disease outcome and have not assessed the phenotypic variance explained by genome-wide additive effects. By combining the majority of available genome-wide genotyping data in HIV-infected populations, we tested for association between ∼8 million variants and viral load (HIV RNA copies per milliliter of plasma) in 6,315 individuals of European ancestry. The strongest signal of association was observed in the HLA class I region that was fully explained by independent effects mapping to five variable amino acid positions in the peptide binding grooves of the HLA-B and HLA-A proteins...
November 24, 2015: Proceedings of the National Academy of Sciences of the United States of America
M Vilagran Fraguell, M Sentís Crivillé, J del Riego Ferrari, F J Andreu Navarro, E Dalmau Portulàs, J Planas Roquerols, M Lluïsa Baré
OBJECTIVES: To evaluate the morphokinetic, pharmacokinetic, and diffusion characteristics of triple-negative breast cancers on magnetic resonance (MR) imaging and to analyze whether there is a relation between these parameters and the time to progression. MATERIAL AND METHODS: This was a retrospective observational study of a consecutive series of 100 patients with histologically confirmed triple-negative breast cancer studied at our center between January 2005 and December 2010...
January 2016: Radiología
Prem Krishna Anandan, Natesh B Hanumanthappa, Prabhavathi Bhatt, Manjunath Nanjappa Cholenahally
Kounis syndrome is defined as an acute coronary syndrome triggered by the release of inflammatory mediators following an allergic insult characterized by acute onset of breathlessness, palpitations, diaphoresis and chest tightness (Gázquez V, Dalmau G, Gaig P, Gómez C, Navarro S, Mercé J. Kounis syndrome: report of 5 cases. J Investig Allergol Clin Immunol 2010;20:162-5). We report a 20-year-male patient who presented with acute myocardial infarction following a wasp sting at our institute. ECG showed non-ST-elevation myocardial infarction...
June 2015: Oxford Medical Case Reports
E J Lampert, M Andorra, R Torres-Torres, S Ortiz-Pérez, S Llufriu, M Sepúlveda, N Sola, A Saiz, B Sánchez-Dalmau, P Villoslada, Elena H Martínez-Lapiscina
Multiple Sclerosis (MS) results in color vision impairment regardless of optic neuritis (ON). The exact location of injury remains undefined. The objective of this study is to identify the region leading to dyschromatopsia in MS patients' NON-eyes. We evaluated Spearman correlations between color vision and measures of different regions in the afferent visual pathway in 106 MS patients. Regions with significant correlations were included in logistic regression models to assess their independent role in dyschromatopsia...
November 2015: Journal of Neurology
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