Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report

Autor: Maria Eugenia Amato, Silvia Ricart, Maria Asunción Vicente, Loreto Martorell, Judith Armstrong, Guerau Fernández Isern, José Manuel Mascaro, Sol Balsells, Itziar Alonso, Mercedes Serrano, Juan Darío Ortigoza‐Escobar

Publikováno v: Clinical Case Reports, Vol 11, Iss 4, Pp n/a-n/a (2023)

Key Clinical Message The presence of more than one genetic/genomic disorder is not uncommon. It is therefore essential to continuously consider new signs and symptoms over time. Administration of gene therapy could be extremely difficult in particula

Externí odkaz: https://doaj.org/article/272214c56e584787973dde41991b0204

Criteria heterogeneity in the diagnosis of acute bronchiolitis in Spain

Autor: Alfredo Cano-Garcinuño, Manuel Praena-Crespo, Isabel Mora-Gandarillas, Ignacio Carvajal-Urueña, María Teresa Callén-Blecua, Águeda García-Merino, Cristina Calvo, Ángeles Cansino-Campuzano, José Carlos Flores-González, Mirella Gaboli, María Luz García-García, Luis García-Marcos, Francisco Giménez-Sánchez, Javier González de Dios, Eduardo González Pérez-Yarza, Javier Korta-Murua, Yolanda M. López-Fernández, Carles Luaces-Cubells, Jorge Martínez Sáenz de Jubera, Federico Martinón-Torres, Gloria M. Moreno-Solís, Cristina Naharro-Fernández, Carlos Ochoa-Sangrador, Pablo Oliver-Goicolea, Gonzalo Oñoro, Gloria Orejón de Luna, Francisco Javier Pellegrini-Belinchón, Jimena Pérez-Moreno, Javier Pilar-Orive, Josefa Plaza-Almeida, Martí Pons-Ódena, José Miguel Ramos-Fernández, Corsino Rey-Galán, Silvia Ricart-Campos, Cristina Rivas-Juesas, Santiago Rueda-Esteban, Jesús Sánchez-Etxaniz, Manuel Sánchez-Luna, Manuel Sánchez-Solís de Querol, Marta Simó-Nebot

Publikováno v: Anales de Pediatría (English Edition), Vol 90, Iss 2, Pp 109-117 (2019)

Introduction: Acute viral bronchiolitis (AB) is one of the most common respiratory diseases in infants. However, diagnostic criteria for AB are heterogeneous and not very well known. Objective: To identify the diagnostic criteria for AB used by exper

Externí odkaz: https://doaj.org/article/8a4e1eddd08d4d7692c861177f1b5205

Characteristics of tracheostomized patients followed up by a Palliative Care and Complex Chronic Patient Service

Autor: Pons-Tomàs, Gemma, Painamil, Rodrigo Morales, Campos, Sílvia Ricart, Arasa, Eduard Pellicer, Sanflorencio, Lucía Peñarrubia, Corredor, Laura Ponce, López, Isabel Torrús ^⁎

Publikováno v: In Anales de Pediatría (English Edition) April 2024 100(4):251-258

Similarities and differences between the immunopathogenesis of COVID-19–related pediatric multisystem inflammatory syndrome and Kawasaki disease

Autor: Claudia Fortuny, Joan Sanchez-de-Toledo, Silvia Ricart, Juan Manuel Mosquera, Jorge Carrillo, Andrea Vergara, Monica Girona-Alarcon, Daniel Cuadras, Cristian Launes, Laia Alsina, Mariona Fernández de Sevilla, Victoria Fumadó, Ana Esteve-Solé, Judith Sánchez-Manubens, Manel Juan, Jordi Anton, Rosa Maria Pino-Ramirez, Cristina Jou, Carmen Muñoz-Almagro, María Ríos-Barnés, Eva González-Roca, Iolanda Jordan, Antoni Noguera-Julian

Publikováno v: J Clin Invest
Journal of Clinical Investigation
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
JOURNAL OF CLINICAL INVESTIGATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Multisystem inflammatory syndrome associated with the SARS-CoV-2 pandemic has recently been described in children (MIS-C), partially overlapping with Kawasaki disease (KD). We hypothesized that (a) MIS-C and prepandemic KD cytokine profiles may be un

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff6f5f3421d4d7671d38328f2bf3788e
https://europepmc.org/articles/PMC7954607/

Correspondence on: ‘Paediatric multisystem inflammatory syndrome temporally associated with SARS-CoV-2 mimicking Kawasaki disease (Kawa-COVID-19): a multicentre cohort’ by Poulettyet al

Autor: Iolanda Jordan, Iván Cano, Mariona F De Sevilla, Claudia Fortuny, Cristina Esteva, Silvia Ricart, Juan Manuel Mosquera, Manuel Monsonís, María Ríos-Barnés, Cristian Launes, Antoni Noguera-Julian, Victoria Fumadó, Juan José García García, Carmen Muñoz-Almagro, Joan Sánchez de Toledo, Judith Sánchez Manubens, Rosa Pino, Ana Carolina Izurieta, Laura Monfort, Jordi Anton, Laura Lecina

Publikováno v: Annals of the Rheumatic Diseases

We read with interest the article by Pouletty et al ,1 in which the authors describe a multicentre compilation of patients with Kawasaki disease (KD) in France, associated with the detection of severe acute respiratory syndrome coronavirus 2 (SARS-Co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c85d01c0372336c767ec8d7ddff2c997
https://doi.org/10.1136/annrheumdis-2020-218538