Universal screening programme for cytomegalovirus infection in the first trimester of pregnancy: study protocol for an observational multicentre study in the area of Barcelona (CITEMB study)

Autor: Cristina Martínez, Juliana Esperalba, Concepción Violán, Marta López, Clàudia Fortuny, Pere Torán, Liudmila Liutsko, Rosa García-Sierra, Nerea Maiz, Maria Angeles Sanchez-Durán, Jofre Bielsa-Pascual, Aneta Monika Zientalska, Inés Velasco, Eva Vazquez, Olga Gracia, Aleida Ribas, Nuria Sitja, Maria Nadales, Anna Gonce, Marie Antoinette Frick, Mercedes Guerrero-Martínez, Gemma Falguera-Puig, Roser Gol, Rocio Rodriguez López, Margarita Mendoza Ariza, Meritxell Fors Andreu, Carolina Exposito Moreno, Cristina Garcia López, Elena Scazzocchio Dueñas, Irene Fernández Torm, Loida Lucas Porras, Sara Albero Jiménez, Julia Arquillos Jiménez, Alicia Capel Tatjer, Irene Domínguez García, Yolanda Reyes Nef, Asun Teva Calahorro, Montse Ortiz González, Esther Rebull López, Rocío Garrido Carreño, Sandra Olivera Lindez, Olga Gracia Salazar, Marta Calveiro Hermo, Jordina Munros Feliu, Astrid Francesch Campi, Laia Alcoverro Bedos, Carlota Rodó, Teresa Higueras Sanz, Elida Vázquez, Gema Fernandez Rivas, Ana Sancho Cerro, Karen Castillo-Viteri, Giorgia Sebastiani, María Rosa Escriche Marco, Maria Pilar Sancho Perez, Ana Barluenga Perez-Cossio, Lucia Alcaraz Vidal, Cristina Morote Muñoz, Esther Cerro Hernandez, Marina Raja Carcaña, Marta Xiville Sole, Mercedes Rey Arijón, Miriam Garcia Sanchez, Mª Teresa Sanchez Casado, Natalia Dueñas Herrero, Paula Amoros Ferrer, Pilar Cabrerizo Las Heras, Raquel Martinez Mondejar, Cristina del Viso Lajara, Maria Mercedes Vicente Fernández, Raquel Antón da Silva, Núria Tosquella Roig, Berta Serrano Ejarque, Júlia Mitjans Carrasco, Silvia Martinez Rubiño, Gemma Prieto Sanchez

Publikováno v: BMJ Open, Vol 13, Iss 7 (2023)

Introduction Congenital cytomegalovirus (cCMV) is the leading cause of non-genetic sensorineural hearing loss and one of the main causes of neurological disability. Despite this, no universal screening programme for cCMV has been implemented in Spain

Externí odkaz: https://doaj.org/article/b24d2d4a1a324f86ad56cbffab006595

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

Autor: Agatha, Schlüter, Agustí, Rodríguez-Palmero, Edgard, Verdura, Valentina, Vélez-Santamaría, Montserrat, Ruiz, Stéphane, Fourcade, Laura, Planas-Serra, Juan José, Martínez, Cristina, Guilera, Marisa, Girós, Rafael, Artuch, María Eugenia, Yoldi, Mar, O'Callaghan, Angels, García-Cazorla, Judith, Armstrong, Itxaso, Marti, Elisabet, Mondragón Rezola, Claire, Redin, Jean Louis, Mandel, David, Conejo, Concepción, Sierra-Córcoles, Sergi, Beltrán, Marta, Gut, Elida, Vázquez, Mireia, Del Toro, Mónica, Troncoso, Luis A, Pérez-Jurado, Luis G, Gutiérrez-Solana, Adolfo, López de Munain, Carlos, Casasnovas, Sergio, Aguilera-Albesa, Alfons, Macaya, Aurora, Pujol, Juan Francisco, V Azquez

Publikováno v: Neurology
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona

Background and ObjectivesGenetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular diagnosis in only half of all patients. We aimed to determine the c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a37b98336a0ef5fb99de2cc583fce53
https://pubmed.ncbi.nlm.nih.gov/35012964

[Clinical variability of polymicrogiria: report of 35 new cases and review of the literature]

Autor: Marina, Flotats-Bastardas, Ángel, Sánchez-Montañez, Elida, Vázquez-Méndez, Arantxa, Ortega-Aznar, Susanna, Boronat-Guerrero, Miquel, Raspall-Chaure, Mireia, del Toro-Riera, Francina, Munell, Alfons, Macaya-Ruiz, Manuel, Roig-Quilis

Publikováno v: Revista de neurologia. 55(6)

The study of polymicrogyria with magnetic resonance imaging (MRI) has made possible the report of several series of patients in which the main clinical manifestations differ considerably. The aims of the study were to review the literature and to kno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::33399f7704b0e9a0336d1ee7ee25ddc6
https://pubmed.ncbi.nlm.nih.gov/22972573

Central Nervous System Effects of Therapy in Patients Treated for Hematological Malignancies

Autor: Elida VáZquez, Y. Miaux, E Gluckman, Ali Guermazi

Publikováno v: Radiological Imaging in Hematological Malignancies ISBN: 9783642623134

Patients treated for hematological malignancies may develop central nervous system (CNS) complications at some point in the course of the disease. Some complications are caused by the underlying disease itself, while others are treatment-related. The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::633236a2a1e086b29372123b17f489f0
https://doi.org/10.1007/978-3-642-18832-9_22

Hipertensión intracraneal asociada a trombosis de senos venosos cerebrales y mastoiditis. A propósito de dos casos pediátricos

Autor: Susanna Boronat-Guerrero, P Velasco-Puyó, Elida Vázquez-Méndez, M del Toro-Riera, M Roig-Quilis

Publikováno v: Revista de Neurología. 49:529

Introduccion. La trombosis de senos venosos cerebrales es una entidad poco frecuente, en general asociada a procesos agudos, entre los que destaca la mastoiditis. En aproximadamente la mitad de los casos, cualquiera que sea su etiologia, pueden detec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9e23adb50140d2dccdbe7706766c8704
https://doi.org/10.33588/rn.4910.2009334