Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing 

Morales Romero, Blai; Muñoz Pujol, Gerard; Artuch Iriberri, Rafael; García Cazorla, Àngels; O'Callaghan, Mar; Sykut Cegielska, Jolanta; Campistol Plana, Jaume; Moreno Lozano, Pedro Juan; Oud, Machteld M; Wevers, Ron A.; Lefeber, Dirk J.; Esteve Codina, Anna; Yepez, Vicente A.; Gagneur, Julien; Wortmann, Saskia B.; Prokisch, Holger; Ribes Rubió, Maria Antònia; García Villoria, Judit; Tort, Frederic (Publication date: 2025-02-17)

The diagnosis of Mendelian disorders has notably advanced with integration of whole exome and genome sequencing (WES and WGS) in clinical practice. However, challenges in variant interpretation and uncovered variants by ...

Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme 

Pajares García, Sonia; González de Aledo-Castillo, José Manuel; Flores Jiménez, José Eduardo; Collado, Tatiana; Pérez, Judit; Paredes Fuentes, Abraham José; Argudo Ramírez, Ana; López Galera, Rosa Ma.; Prats, Blanca; García Villoria, Judit (Publication date: 2024-05-27)

Objectives: Acylcarnitine and amino acid analyses of dried blood spot (DBS) samples using tandem mass spectrometry in newborn screening (NBS) programmes can generate false positive (FP) results. Therefore, implementation ...

Lung-function trajectories: relevance and implementation in clinical practice 

Melen, E.; Faner, Rosa; Allinson, James P.; Bui, D.; Bush, A.; Custovic, A.; Garcia Aymerich, J.; Guerra, S.; Breyer Kohansal, R.; Hallberg, J.; Lahousse, L.; Martinez, F. D.; Merid, S. K.; Powell, P.; Pinnock, H.; Stanojevic, S.; Vanfleteren, Legw; Wang, Gang; Dharmage, S. C.; Wedzicha, J.; Agustí García-Navarro, Àlvar; CADSET Investigators (Publication date: 2025-01-07)

Lung development starts in utero and continues during childhood through to adolescence, reaching its peak in early adulthood. This growth is followed by gradual decline due to physiological lung ageing. Lung -function ...

Cortical microstructure in primary progressive aphasia: a multicenter study 

Illán Gala, I.; Montal, V.; Borrego Écija, Sergi; Mandelli, M. L.; Falgàs Martínez, Neus; Welch, A. E.; Pegueroles, J.; Santos Santos, M.; Bejanin, A.; Alcolea, D.; Dols Icardo, O.; Belbin, O.; Sanchez Saudinos, M. B.; Bargalló Alabart, Núria; González Ortiz, Sofía; Lladó Plarrumaní, Albert; Blesa, R.; Dickerson, B. C.; Rosen, Howard J.; Miller, B. L.; Lleo, A.; Gorno Tempini, M. L.; Sánchez Valle, Raquel; Fortea, J. (Publication date: 2024-01-24)

Cortical mean diffusivity is a novel imaging metric sensitive to early changes in neurodegenerative syndromes. Higher cortical mean diffusivity values reflect microstructural disorganization and have been proposed as a ...

Telemedicine in the management of chronic obstructive pulmonary disease: A systematic review 

Vila, Marc; Rosa Oliveira, V.; Agustí García-Navarro, Àlvar (Publication date: 2024-02-26)

The role of red blood cell exchange for severe imported malaria in the artesunate era: a retrospective cohort study in a referral centre 

Calvo-Cano, Antonia; Gómez Junyent, Joan; Lozano Molero, Miguel; Castro, Pedro; Cid Vidal, Joan; Nicolás Arfelis, Josep Maria; Quintó, Llorenç; Martin, Maite; Muñoz, José; Gascón i Brustenga, Joaquim (Publication date: 2016-05-19)

BACKGROUND: Intravenous artesunate has replaced quinine as the first-line therapy for severe imported malaria, given its anti-malarial superiority shown in clinical trials conducted in ...

Safety and efficacy of G-CSF after allogeneic hematopoietic cell transplantation using post-transplant cyclophosphamide: clinical and in vitro examination of endothelial activation 

Escribano Serrat, Silvia; Pedraza, Alexandra; Suárez-Lledó Grande, María; Charry, Paola; Moner Rafel, Blanca de; Martínez Sánchez, Júlia; Ramos López, Alex; Ventosa Capell, Helena; Moreno Guarnido, Cristina; Guardia, Laia; Monge Escartín, Inés; Riu Viladoms, Gisela; Carcelero San Martin, Esther; Cid Vidal, Joan; Lozano Molero, Miguel; Gomez Perez, Pilar Begona; García, Estefanía; Martin, Lidia; Carreras i Pons, Enric; Fernández Avilés, F.; Martínez Muñoz, Ma. Carmen; Rovira Tarrats, Montserrat; Salas Gay, María Queralt; Diaz Ricart, M. Isabel (Publication date: 2025-03-14)

Since 2021 the use of G-CSF was implemented in allo-HCT with PTCY-based prophylaxis with the aim of shortening the aplastic phase and reducing infectious complications. This study investigates the effectiveness of this ...

CAR density influences antitumoral efficacy of BCMA CAR T cells and correlates with clinical outcome 

Rodríguez Márquez, Paula; Calleja Cervantes, Maria E.; Serrano, Guillermo; Oliver Caldés, Aina; Palacios Berraquero, María L.; Martín Mallo, Ángel; Calviño Suárez, Cristina; Español Rego, Marta; Ceballos, Candela; Lozano, Teresa; San Martin Uriz, Patxi; Vilas Zornoza, Amaia; Rodríguez Díaz, Saray; Martínez Turrillas, Rebeca; Jáuregui, Patricia; Alignani, Diego; Viguria, María C.; Redondo, Margarita; Pascal i Capdevila, Mariona; Martín-Antonio, Beatriz; Juan, Manel; Urbano Ispizua, Álvaro; Rodríguez Otero, Paula; Alfonso Pierola, Ana; Paiva, Bruno; Lasarte, Juan J.; Inogés, Susana; López Díaz de Cerio, Ascensión; San Miguel, Jesús; Fernández de Larrea Rodríguez, Carlos José; Hernáez, Mikel; Rodríguez Madoz, Juan R.; Prosper, Felipe (Publication date: 2024-03-25)

Identification of new markers associated with long-term efficacy in patients treated with CAR T cells is a current medical need, particularly in diseases such as multiple myeloma. In this study, we address the impact of ...

Community-acquired pneumonia as an emergency condition 

Cillóniz, Catia; Dominedò, Cristina; Garcia Vidal, Carolina; Torres Martí, Antoni (Publication date: 2019-11-18)

Despite the improvements in its management, community-acquired pneumonia (CAP) still exhibits high global morbidity and mortality rates, especially in elderly patients. This review focuses on the most recent findings on ...

Relevance of non-criteria antiphospholipid antibodies titers among patients with antiphospholipid syndrome and patients with systemic lupus erythematosus. Importancia de los títulos de anticuerpos antifosfolípidos no criterio entre pacientes con síndrome antifosfolípido primario y pacientes con lupus eritematoso sistémico 

Urrego Callejas, Tomás; Hernández, Alejandro; Ruiz Giraldo, Sebastián; Frade Sosa, Beatriz; Vanegas García, Adriana L.; Muñoz, Carlos H.; Rua, Carlona; Duque Botero, Julieta; González, Luis A.; Vásquez, Gloria; Gómez Puerta, José A. (Publication date: 2024-01-16)

There is an increasing interest in the study of non-criteria antiphospholipid antibodies (aPL) including antibodies targeting domain 1 of the B2 glycoprotein 1 (anti-D1 B2GP1) and antibodies anti phosphatidylserine/ ...

Efficacy and Safety of Carbapenems vs New Antibiotics for Treatment of Adult Patients With Complicated Urinary Tract Infections: A Systematic Review and Meta-analysis 

Ezure, Yukiko; Rico, Verónica; Paterson, David L.; Hall, Lisa; Harris, Patrick N. A.; Soriano Viladomiu, Alex; Roberts, Jason A.; Bassetti, Matteo; Roberts, Mathew J.; Righi, Elda; Wright, Hugh (Publication date: 2023-05-12)

This systematic review and meta-analysis evaluated the clinical efficacy and safety of carbapenems for the treatment of complicated urinary tract infections (cUTIs), with the comparators being new antibiotics evaluated for ...

2025 Updated version v1.0 SEOM-GEMCAD-TTD clinical guidelines for the systemic treatment of metastatic colorectal cancer (2022) 

Montes, Ana Fernandez; Alonso, Vicente; Aguilar, Enrique Aranda; Elez, Elena; Alfonso, Pilar Garcia; Castro, Cristina Gravalos; Maurel Santasusana, Joan; Garcia, Ruth Vera; Tocino, Rosario Vidal; Urtasun, Jorge Aparicio (Publication date: 2025-03-25)

n/a

Outcome of patients with hepatocellular carcinoma and liver dysfunction under Immunotherapy: a systematic review and meta-analysis 

El Hajra, I.; Sanduzzi Zamparelli, Marco; Sapena, V.; Muñoz Martínez, Sergio Gabriel; Mauro, E.; Llarch, N.; Iserte, G.; Forner, A.; Ríos, José; Bruix, J.; Reig, M. (Publication date: 2024-02-13)

Immunotherapy-based regimes have changed the management of hepatocellular carcinoma (HCC). However, evidence of efficacy in patients with impaired liver function is unknown. This systematic review and meta-analysis assesses ...

Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number 

Oliva, Clara; Arias, Ángela; Ruiz, Montserrat;; Pujol Onofre, Aurora; Garrabou Tornos, Glòria; Cantó Santos, Judith; Urreizti, Roser; Castilla Vallmanya, Laura; Rodríguez González, Helena; Jou, Cristina; Casado Río, Mercedes; Ormazabal Herrero, Aida; Artuch Iriberri, Rafael (Publication date: 2024-01-16)

Natural history and prognostic impact of oligoclonal humoral response in patients term results from a single institution 

Tovar Gomis, Natalia; Fernández de Larrea Rodríguez, Carlos José; Aróstegui Gorospe, Juan Ignacio; Cibeira López, Maria Teresa; Rosiñol Dachs, Laura; Rovira Tarrats, Montserrat; Elena, Montserrat; Filella Pla, Xavier; Yagüe Ribes, Jordi; Bladé, J. (Joan) (Publication date: 2026-01-27)

The emergence of an oligoclonal humoral response, resulting in the appearance of a different serum M-protein to that observed at diagnosis is a well-recognized event after autologous stem cell transplantation in multiple ...

Pregnancy outcomes in anti-NMDA receptor encephalitis: Case series 

Joubert, Bastien; García Serra, Anna; Planaguma, Jesús; Martinez Hernandez, Eugenia; Kraft, Andrea; Palm, Frederick; Iizuka, Takahiro; Honnorat, Jérôme; Leypoldt, Frank; Graus Ribas, Francesc; Dalmau Obrador, Josep (Publication date: 2022-03-09)

To report the effects of anti-NMDA receptor (NMDAR) encephalitis in pregnant patients and their babies.We studied a retrospective cohort of patients who developed anti-NMDAR encephalitis during pregnancy or became pregnant ...

CSF glial markers are elevated in a subset of patients with genetic frontotemporal dementia 

Woollacott, Ione O. C.; Swift, Imogen J.; Sogorb Esteve, Aitana; Heller, Carolin; Knowles, Kathryn; Bouzigues, Arabella; Russell, Lucy L.; Peakman, Georgia; Greaves, Caroline V.; Convery, Rhian; Heslegrave, Amanda; Rowe, James B.; Borroni, Barbara; Galimberti, Daniela; Tiraboschi, Pietro; Masellis, Mario; Tartaglia, Maria Carmela; Finger, Elizabeth; Swieten, John C. van; Seelaar, Harro; Jiskoot, Lize; Sorbi, Sandro; Butler, Chris R.; Graff, Caroline; Gerhard, Alexander; Laforce, Robert; Sánchez Valle, Raquel; Mendonça, Alexandre de; Moreno, Fermin; Synofzik, Matthis; Vandenberghe, Rik; Ducharme, Simon; Le Ber, Isabelle; Levin, Johannes; Otto, Markus; Pasquier, Florence; Santana, Isabel; Zetterberg, Henrik; Rohrer, Jonathan D. (Publication date: 2023-08-02)

Neuroinflammation has been shown to be an important pathophysiological disease mechanism in frontotemporal dementia (FTD). This includes activation of microglia, a process that can be measured in life through assaying ...

PRISMA 2020 - An updated checklist for systematic reviews and meta-analyses 

Radua, Joaquim (Publication date: 2025-03-20)

[No abstract available]

Community-Acquired Pneumonia Due to Multidrug- and Non–Multidrug-Resistant Pseudomonas aeruginosa 

Cillóniz, Catia; Gabarrús, Albert; Ferrer Monreal, Miquel; Puig de la Bellacasa, Jordi; Rinaudo, Mariano; Mensa Pueyo, Josep; Niederman, Michael S.; Torres Martí, Antoni (Publication date: 2019-11-25)

Background: Pseudomonas aeruginosa is not a frequent pathogen in community-acquired pneumonia (CAP). However, in patients with severe CAP, P aeruginosa can be the etiology in 1.8% to 8.3% of patients, with a case-fatality ...

A new prognostic algorithm based on stage of cirrhosis and HVPG to improve risk-stratification after variceal bleeding 

Mura, Vincenzo La; Garcia Guix, Marta; Berzigotti, Annalisa; Abraldes, Juan G.; García Pagán, Juan Carlos; Villanueva, Càndid; Bosch i Genover, Jaume (Publication date: 2020-05-14)

Background & Aims: HVPG decrease ≥20% or ≤12mmHg (“responders”) indicates good prognosis during propranolol/nadolol treatment but requires two HVPG measurements. We aimed at simplifying risk‐stratification after variceal ...