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15 p, 2.3 MB |
Epigenetic regulation of inflammation by microRNAs in post-infectious bronchiolitis obliterans
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Duecker, Ruth P.. (Goethe University) ;
de Mir-Messa, Inés (Hospital Universitari Vall d'Hebron) ;
Jerkic, Silvija-Pera (Goethe University) ;
Kochems, Annalena (Goethe University) ;
Gottwald, Gabriele (Goethe University) ;
Moreno Galdó, Antonio (Instituto de Salud Carlos III) ;
Rosewich, Martin (Goethe University) ;
Gronau, Lucia (Goethe University) ;
Zielen, Stefan (Goethe University) ;
Geburtig-Chiocchetti, Andreas (Goethe University) ;
Kreyenberg, Hermann (Goethe University) ;
Schubert, Ralf (Goethe University) ;
Universitat Autònoma de Barcelona
Post-infectious bronchiolitis obliterans (PiBO) is a rare, chronic disease initiated by severe infection and followed by perpetuating inflammation and obliteration of the small airways. MicroRNAs (miRNAs) have been proposed to play a central role as epigenetic regulators, which control resolution and prevent the uncontrolled progress of inflammation. [...]
2022 -  10.1002/cti2.1376
Clinical & Translational Immunology, Vol. 11 (february 2022)
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8 p, 589.3 KB |
Pulmonary exacerbations in patients with primary ciliary dyskinesia : an expert consensus definition for use in clinical trials
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Lucas, Jane S. (University Hospital Southampton NHS Foundation Trust (Regne Unit)) ;
Gahleitner, Florian (University of Southampton) ;
Amorim, Adelina (Porto University) ;
Boon, Mieke (University Hospitals Gasthuisberg (Leuven, Bélgica)) ;
Brown, Philippa (PCD Family Support Group) ;
Constant, Carolina (Centro Hospitalar Lisboa Norte) ;
Cook, Simon (PCD Family Support Group) ;
Crowley, Suzanne (Oslo University Hospital (Oslo, Noruega)) ;
Destouches, Damien M. S. (Association des Patients Ayant une Dyskinésie Ciliaire Primitive) ;
Eber, Ernst (Medical University of Graz, Graz, Austria) ;
Mussaffi, Huda (Tel Aviv University) ;
Haarman, Eric (Amsterdam UMC. University Medical Center) ;
Harris, Amanda (University of Southampton) ;
Koerner-Rettberg, Cordula (University Children's Hospital of Ruhr University) ;
Kuehni, Claudia E. (University of Bern) ;
Latzin, Philipp (Bern University Hospital) ;
Loebinger, Michael R. (Imperial College London) ;
Lorent, Natalie (University Hospitals Leuven (Bèlgica)) ;
Maitre, Bernard (Université Paris Est-Créteil) ;
Moreno Galdó, Antonio (Hospital Universitari Vall d'Hebron) ;
Nielsen, Kim G. (Copenhagen University Hospital) ;
Özçelik, Uğur (University Medical Faculty (Turquia)) ;
Philipsen, Lue Katrine Drasbæk (Copenhagen University Hospital) ;
Pohunek, Petr (Charles University. Faculty of Medicine in Hradec Králové) ;
Polverino, Eva (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rademacher, Jessica (Hannover Medical School) ;
Robinson, Phil (Royal Children's Hospital) ;
Snijders, Deborah (University of Padova) ;
Yiallouros, Panayiotis (niversity of Cyprus) ;
Carr, Siobhán B. (Imperial College and Royal Brompton Hospital) ;
Universitat Autònoma de Barcelona
Pulmonary exacerbations are a cause of significant morbidity in patients with primary ciliary dyskinesia (PCD) and are frequently used as an outcome measure in clinical research into chronic lung diseases. [...]
2019 - 10.1183/23120541.00147-2018
ERJ Open Research, Vol. 5 (february 2019)
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3.
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14 p, 7.0 MB |
Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia
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Baz-Redón, Noelia (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ;
Rovira-Amigo, Sandra (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Fernández Cancio, Mónica (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Castillo-Corullón, Silvia (Hospital Clínic Universitari (València)) ;
Cols, Maria (Hospital Sant Joan de Déu (Manresa)) ;
Caballero-Rabasco, M. Araceli (Hospital del Mar (Barcelona, Catalunya)) ;
Asensio, Oscar (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Martín de Vicente, Carlos (Hospital Universitario Miguel Servet (Saragossa)) ;
Martínez-Colls, Maria del Mar (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Torrent-Vernetta, Alba (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
de Mir-Messa, Inés (Hospital Universitari Vall d'Hebron) ;
Gartner, Silvia (Hospital Universitari Vall d'Hebron) ;
Iglesias-Serrano, Ignacio (Hospital Universitari Vall d'Hebron) ;
Díez-Izquierdo, Ana (Hospital Universitari Vall d'Hebron) ;
Polverino, Eva (Hospital Universitari Vall d'Hebron) ;
Amengual-Pieras, Esther (Hospital Universitari Son Llàtzer (Palma de Mallorca, Balears)) ;
Amaro-Rodríguez, Rosanel (Hospital Clínic i Provincial de Barcelona) ;
Vendrell, Montserrat (Centro de Investigación Biomédica en Red de Enfermedades Respiratorias) ;
Mumany, Marta (Consorci Sanitari de Terrassa) ;
Pascual-Sánchez, María Teresa (Hospital Universitari Sant Joan de Reus (Tarragona)) ;
Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron) ;
Reula, Ana (Universitat de València) ;
Escribano, Amparo (Instituto de Investigación Sanitaria INCLIVA (València, Comunitat Valenciana)) ;
Dasí, Francisco (Instituto de Investigación Sanitaria INCLIVA (València, Comunitat Valenciana)) ;
Armengot-Carceller, Miguel (Hospital Universitari i Politècnic La Fe (València)) ;
Garrido-Pontnou, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Camats Tarruella, Núria (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Moreno Galdó, Antonio (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Universitat Autònoma de Barcelona
Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by an alteration of ciliary structure. Immunofluorescence, consisting in the detection of the presence and distribution of cilia proteins in human respiratory cells by fluorescence, has been recently proposed as a technique to improve understanding of disease-causing genes and diagnosis rate in PCD. [...]
2020 - 10.3390/jcm9113603
Journal of clinical medicine, Vol. 9 (november 2020)
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5 p, 611.5 KB |
Access to medicines for rare diseases : beating the drum for primary ciliary dyskinesia
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Crowley, Suzanne (Oslo University Hospital (Oslo, Noruega)) ;
Azevedo, Ines (Universidade do Porto) ;
Boon, Mieke (University Hospitals Gasthuisberg (Leuven, Bélgica)) ;
Bush, Andrew (Royal Brompton Hospital (Londres)) ;
Eber, Ernst (Medical University of Graz) ;
Haarman, Eric (Amsterdam UMC. University Medical Center) ;
Karadag, Bulent (Marmara University) ;
Kötz, Karsten (Sahlgrenska University Hospital (Suècia)) ;
Leigh, Margaret (University of North Carolina at Chapel Hill) ;
Moreno Galdó, Antonio (Universitat Autònoma de Barcelona) ;
Mussaffi, Huda (Tel Aviv University) ;
Nielsen, Kim G. ;
Omran, Heymut (University Hospital Muenster (Alemanya)) ;
Papon, Jean-François (Hôpital Kremlin-Bicetre) ;
Pohunek, Petr (Charles University. Faculty of Medicine in Hradec Králové) ;
Priftis, Kostas (University General Hospital Attikon (Haidari, Grècia)) ;
Rindlisbacher, Bernhard (Patient Association Kartagener Syndrom und Primäre Ciliäre Dyskinesie e.V., Steffisburg, Switzerland) ;
Santamaria, Francesca (Federico II University) ;
Valiulis, Arunas (European Academy of Paediatrics (Bélgica)) ;
Witt, Michal (Institute of Human Genetics Polish Academy of Sciences(Polònia)) ;
Yiallouros, Panayiotis (University of Cyprus) ;
Zivkovic, Zorica (Novi Sad (Sèrbia)) ;
Kuehni, Claudia E. (University Children's Hospital Bern (Suïssa)) ;
Lucas, Jane S. (University Hospital Southampton NHS Foundation Trust (Regne Unit))
Rare diseases are collectively common, affecting an estimated 6. 2% of the world's population [1], but each rare disease affects fewer than 4 to 5 in 10 000 individuals in Europe or less than 200 000 individuals in the USA [2]. [...]
2020 - 10.1183/23120541.00377-2020
ERJ Open Research, Vol. 6 (september 2020)
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5 p, 503.6 KB |
Evaluation of inter-observer variation for computed tomography identification of childhood interstitial lung disease
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Jacob, Joseph (University College London. Centre for Medical Image Computing) ;
Owens, Catherine M. (Dept of Radiology, Great Ormond Street Hospital, London, UK) ;
Brody, Alan S. (Cincinnati Children's Hospital Medical Center) ;
Semple, Thomas (Dept of Radiology, Royal Brompton and Harefield NHS Foundation Trust, London, UK) ;
Watson, Tom A. (Dept of Radiology, Great Ormond Street Hospital, London, UK) ;
Calder, Alistair (Dept of Radiology, Great Ormond Street Hospital, London, UK) ;
Garcia-Peña, Pilar (Hospital Universitari Vall d'Hebron) ;
Toma, Paolo (Dept of Radiology, Ospedale Pediatrico Bambino Gesù, Rome, Italy) ;
Devaraj, Anand (Dept of Radiology, Royal Brompton and Harefield NHS Foundation Trust, London, UK) ;
Walton, Henry (Dept of Radiology, Royal Free London NHS Foundation Trust, London, UK) ;
Moreno Galdó, Antonio (Hospital Universitari Vall d'Hebron) ;
Aurora, Paul (Great Ormond Street Hospital for Children (Londres)) ;
Rice, Alexandra (Dept of Hisopathology, Royal Brompton and Harefield NHS Foundation Trust and National Heart and Lung Institute, Imperial College, London, UK) ;
Vece, Timothy J. (Dept of Pediatrics, Division of Pediatric Pulmonology, University of North Carolina-Chapel Hill, Chapel Hill, NC, USA) ;
Cunningham, Steve (Centre for Inflammation Research, University of Edinburgh, Edinburgh, UK) ;
Altmann, Andre (University College London. Centre for Medical Image Computing) ;
Wells, Athol U. (Interstitial Lung Disease Unit, Royal Brompton and Harefield NHS Foundation Trust, London, UK) ;
Nicholson, Andrew G. (Dept of Hisopathology, Royal Brompton and Harefield NHS Foundation Trust and National Heart and Lung Institute, Imperial College, London, UK) ;
Bush, Andrew (Royal Brompton Hospital (Londres))
Interstitial lung diseases (ILDs) that present in childhood (chILD) are seen far less frequently than ILDs presenting in adults which themselves constitute rare disorders [1]. Histopathological [2, 3] and imaging [4] characterisation of chILD disease subtypes therefore lags behind adult ILDs. [...]
2019 - 10.1183/23120541.00100-2019
ERJ Open Research, Vol. 5 (july 2019)
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6 p, 1.3 MB |
Successful use of cinacalcet to treat parathyroid-related hypercalcemia in two pediatric patients
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Mogas Viñals, Eduard (Universitat Autònoma de Barcelona) ;
Campos-Martorell, Ariadna (Universitat Autònoma de Barcelona) ;
Clemente León, María (Universitat Autònoma de Barcelona) ;
Castaño, Luis (Endocrinology and Diabetes Research Group) ;
Moreno Galdó, Antonio (Universitat Autònoma de Barcelona) ;
Yeste Fernández, Diego (Universitat Autònoma de Barcelona) ;
Carrascosa Lezcano, Antonio 1949- (Universitat Autònoma de Barcelona)
2018 - 10.1530/EDM-18-0009
Endocrinology, Diabetes & Metabolism Case Reports, Vol. 2018 (June 2018) , art. 18-0009
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