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https://www.readbyqxmd.com/read/28275552/dietary-practices-in-isovaleric-acidemia-a-european-survey
#1
A Pinto, A Daly, S Evans, M F Almeida, M Assoun, A Belanger-Quintana, S Bernabei, S Bollhalder, D Cassiman, H Champion, H Chan, J Dalmau, F de Boer, C de Laet, A de Meyer, A Desloovere, A Dianin, M Dixon, K Dokoupil, S Dubois, F Eyskens, A Faria, I Fasan, E Favre, F Feillet, A Fekete, G Gallo, C Gingell, J Gribben, K Kaalund-Hansen, N Horst, C Jankowski, R Janssen-Regelink, I Jones, C Jouault, G E Kahrs, I L Kok, A Kowalik, C Laguerre, S Le Verge, R Lilje, C Maddalon, D Mayr, U Meyer, A Micciche, M Robert, J C Rocha, H Rogozinski, C Rohde, K Ross, I Saruggia, A Schlune, K Singleton, E Sjoqvist, L H Stolen, A Terry, C Timmer, L Tomlinson, A Tooke, K Vande Kerckhove, E van Dam, T van den Hurk, L van der Ploeg, M van Driessche, M van Rijn, A van Teeffelen-Heithoff, A van Wegberg, C Vasconcelos, H Vestergaard, I Vitoria, D Webster, F J White, L White, H Zweers, A MacDonald
BACKGROUND: In Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management. AIM: To describe European practice regarding the dietary management of IVA, prior to the availability of the E-IMD IVA guidelines (E-IMD 2014). METHODS: A cross-sectional questionnaire was sent to all European dietitians who were either members of the Society for the Study of Inborn Errors of Metabolism Dietitians Group (SSIEM-DG) or whom had responded to previous questionnaires on dietetic practice (n = 53)...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28258082/dppx-antibody-associated-encephalitis-main-syndrome-and-antibody-effects
#2
Makoto Hara, Helena Ariño, Mar Petit-Pedrol, Lidia Sabater, Maarten J Titulaer, Eugenia Martinez-Hernandez, Marco W J Schreurs, Myrna R Rosenfeld, Francesc Graus, Josep Dalmau
OBJECTIVE: To report the main syndrome of dipeptidyl-peptidase-like protein 6 (DPPX) antibody-associated encephalitis, immunoglobulin G (IgG) subclass, and the antibody effects on DPPX/Kv4.2 potassium channels. METHODS: A retrospective analysis of new patients and cases reported since 2013 was performed. IgG subclass and effects of antibodies on cultured neurons were determined with described techniques. RESULTS: Nine new patients were identified (median age 57 years, range 36-69 years)...
March 3, 2017: Neurology
https://www.readbyqxmd.com/read/28251919/netrin-1-receptor-antibodies-in-thymoma-associated-neuromyotonia-with-myasthenia-gravis
#3
Estefanía Torres-Vega, Nuria Mancheño, Arantxa Cebrián-Silla, Vicente Herranz-Pérez, María J Chumillas, Germán Moris, Bastien Joubert, Jérôme Honnorat, Teresa Sevilla, Juan J Vílchez, Josep Dalmau, Francesc Graus, José Manuel García-Verdugo, Luis Bataller
OBJECTIVE: To identify cell-surface antibodies in patients with neuromyotonia and to describe the main clinical implications. METHODS: Sera of 3 patients with thymoma-associated neuromyotonia and myasthenia gravis were used to immunoprecipitate and characterize neuronal cell-surface antigens using reported techniques. The clinical significance of antibodies against precipitated proteins was assessed with sera of 98 patients (neuromyotonia 46, myasthenia gravis 52, thymoma 42; 33 of them with overlapping syndromes) and 219 controls (other neurologic diseases, cancer, and healthy volunteers)...
March 1, 2017: Neurology
https://www.readbyqxmd.com/read/28202703/investigations-in-gabaa-receptor-antibody-associated-encephalitis
#4
Marianna Spatola, Mar Petit-Pedrol, Mateus Mistieri Simabukuro, Thaís Armangue, Fernanda J Castro, Maria I Barcelo Artigues, Maria R Julià Benique, Leslie Benson, Mark Gorman, Ana Felipe, Ruben L Caparó Oblitas, Myrna R Rosenfeld, Francesc Graus, Josep Dalmau
OBJECTIVE: To report the clinical features, comorbidities, receptor subunit targets, and outcome in patients with anti-GABAA receptor (GABAAR) encephalitis. METHODS: Clinical study of 26 patients, including 17 new (April 2013-January 2016) and 9 previously reported patients. Antibodies to α1, β3, and γ2 subunits of the GABAAR were determined using reported techniques. RESULTS: Patients' median age was 40.5 years (interquartile range 48...
March 14, 2017: Neurology
https://www.readbyqxmd.com/read/28093513/author-response-the-clinical-spectrum-of-caspr2-antibody-associated-disease
#5
Agnes van Sonderen, Helena Ariño, Josep Dalmau, Maarten J Titulaer
No abstract text is available yet for this article.
January 17, 2017: Neurology
https://www.readbyqxmd.com/read/28025395/message-from-the-editors-to-our-reviewers
#6
Robert A Gross, Bradford B Worrall, Anthony A Amato, Gregory D Cascino, Olga Ciccarelli, John R Corboy, Josep O Dalmau, Rebecca F Gottesman, Murray Grossman, John J Millichap, Jonathan W Mink, Stefan M Pulst, Ryan J Uitti
No abstract text is available yet for this article.
January 3, 2017: Neurology
https://www.readbyqxmd.com/read/27856263/rational-design-of-protamine-nanocapsules-as-antigen-delivery-carriers
#7
José Vicente González-Aramundiz, Elena Presas, Inmaculada Dalmau-Mena, Susana Martínez-Pulgarín, Covadonga Alonso, José M Escribano, María J Alonso, Noemi Stefánia Csaba
Current challenges in global immunization indicate the demand for new delivery strategies, which could be applied to the development of new vaccines against emerging diseases, as well as to improve safety and efficacy of currently existing vaccine formulations. Here, we report a novel antigen nanocarrier consisting of an oily core and a protamine shell, further stabilized with pegylated surfactants. These nanocarriers, named protamine nanocapsules, were rationally designed to promote the intracellular delivery of antigens to immunocompetent cells and to trigger an efficient and long-lasting immune response...
November 14, 2016: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/27816006/green-spaces-and-spectacles-use-in-schoolchildren-in-barcelona
#8
Payam Dadvand, Jordi Sunyer, Mar Alvarez-Pedrerol, Albert Dalmau-Bueno, Mikel Esnaola, Mireia Gascon, Montserrat De Castro Pascual, Xavier Basagaña, Ian G Morgan, Mark J Nieuwenhuijsen
Myopia is one of the major causes of low visual acuity during childhood, and hence of the need for spectacles. It is generally more prevalent in urban areas where children are often less exposed to green spaces than in rural areas. This study evaluated the association between exposure to green space and use of spectacles (as a surrogate measure for myopia) in a cohort of 2727 schoolchildren (7-10 years old) recruited from 39 primary schools in Barcelona (2012-2015). We assessed exposure to green spaces by characterizing outdoor surrounding greenness at home and school and during commuting using satellite data on greenness (Normalized Difference Vegetation Index)...
January 2017: Environmental Research
https://www.readbyqxmd.com/read/27510803/identification-of-siglec-1-null-individuals-infected-with-hiv-1
#9
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...
August 11, 2016: Nature Communications
https://www.readbyqxmd.com/read/27468380/anti-n-methyl-d-aspartate-receptor-encephalitis-a-new-challenging-entity-for-consultation-liaison-psychiatrist
#10
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
https://www.readbyqxmd.com/read/27399303/ephrin-b2-prevents-n-methyl-d-aspartate-receptor-antibody-effects-on-memory-and-neuroplasticity
#11
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
https://www.readbyqxmd.com/read/27371488/the-clinical-spectrum-of-caspr2-antibody-associated-disease
#12
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
https://www.readbyqxmd.com/read/27271951/association-of-autoimmune-encephalitis-with-combined-immune-checkpoint-inhibitor-treatment-for-metastatic-cancer
#13
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
https://www.readbyqxmd.com/read/27266593/corrigendum-to-antibodies-to-dendritic-neuronal-surface-antigens-in-opsoclonus-myoclonus-ataxia-syndrome-j-neuroimmunol-286-2015-86-92
#14
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
https://www.readbyqxmd.com/read/27127961/first-measurement-of-electron-neutrino-appearance-in-nova
#15
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
https://www.readbyqxmd.com/read/27065452/clinical-and-immunologic-investigations-in-patients-with-stiff-person-spectrum-disorder
#16
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
https://www.readbyqxmd.com/read/27023098/anatomy-of-the-inferior-extensor-retinaculum-and-its-role-in-lateral-ankle-ligament-reconstruction-a-pictorial-essay
#17
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
https://www.readbyqxmd.com/read/27011339/retinal-thickness-measured-with-optical-coherence-tomography-and-risk-of-disability-worsening-in-multiple-sclerosis-a-cohort-study
#18
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
https://www.readbyqxmd.com/read/26949869/green-spaces-and-general-health-roles-of-mental-health-status-social-support-and-physical-activity
#19
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
https://www.readbyqxmd.com/read/26946199/predictability-of-short-implants-10-mm-as-a-treatment-option-for-the-rehabilitation-of-atrophic-maxillae-a-systematic-review
#20
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...
May 1, 2016: Medicina Oral, Patología Oral y Cirugía Bucal
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