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1.
12 p, 1.2 MB Current clinical practice for thromboprophylaxis management in patients with Cushing's syndrome across reference centers of the European Reference Network on Rare Endocrine Conditions (Endo-ERN) / van Haalen, F.M. (Leiden University Medical Center) ; Kaya, M. (Leiden University Medical Center) ; Pelsma, I.C.M. (Leiden University Medical Center) ; Dekkers, O.M. (Leiden University Medical Center) ; Biermasz, N.R. (Leiden University Medical Center) ; Cannegieter, S.C. (Leiden University Medical Center) ; Huisman, M.V. (Leiden University Medical Center) ; van Vlijmen, B.J.M. (Leiden University Medical Center) ; Feelders, R.A. (Erasmus University Medical Center) ; Klok, F.A. (Leiden University Medical Center) ; Pereira, A.M. (Leiden University Medical Center) ; Stochholm, K. (Aarhus University Hospital (Aarhus, Dinamarca)) ; Fliers, E. (Amsterdam UMC. University Medical Center) ; Castinetti, F. (Assistance Publique-Hôpitaux de Marseille) ; Brue, T. (Assistance Publique-Hôpitaux de Marseille) ; Bertherat, J. (Assistance Publique -Consortium Cochin. Robert Debré. Necker. St Antoine. La Pitié Salpétrière) ; Scaroni, C. (Hospital-University of Padova) ; Colao, A. (Azienda Ospedaliera Universitaria "Federico II") ; Giordano, R. (Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino) ; Druce, M.R. (Barts Health -NHS Foundation Trust) ; Beckers, A. (Centre Hospitalier Universitaire de Liège) ; Spranger, J. (Charité - Universitätsmedizin Berlin) ; Driessens, N. (Cliniques Universitaires de Bruxelles -Hôpital Erasme) ; Maiter, D. (UCL Cliniques Universitaires Saint-Luc) ; Feldt-Rasmussen, U. (Copenhagen University Hospital) ; Feelders, R. (Erasmus MC: University Medical Center Rotterdam) ; Webb, S. M 1952- (Institut d'Investigació Biomèdica Sant Pau) ; Dattani, M. (Ormond Street Hospital -NHS Foundation Trust) ; Husebye, E. (Haukeland University Hospital) ; Zilaitiene, B. (Lithuanian University of Health Sciences) ; Gaztambide, S. (Hospital Universitario Cruces) ; Gatto, F. (IRCCS Ospedale Policlinico San Martino) ; Ferone, D. (IRCCS Ospedale Policlinico San Martino) ; Persani, L. (University of Milan) ; Chiodini, I. (University of Milan) ; Höybye, C. (Karolinska Institute) ; Biermasz, N.R. (Leiden University Medical Center) ; Klok, F.A. (Leiden University Medical Center) ; Dekkers, O.M. (Leiden University Medical Center) ; Meijer, O.C. (Leiden University Medical Center) ; Reincke, M. (Ludwig-Maximilian-University Munich) ; Vila, G. (Medical University of Vienna) ; Perry, C. (NHS Greater Glasgow and Clyde Board) ; Heck, A. (Oslo University Hospital HF) ; Stancampiano, M.R. (Scientific Institute San Raffaele) ; van de Ven, A. (Radboud University Nijmegen Medical Centre -Including Amalia's Children Hospital) ; Johannsson, G. (Sahlgrenska University Hospital) ; Ragnarsson, O. (Sahlgrenska University Hospital) ; Tóth, M. (Semmelweis University) ; Volke, V. (Tartu University Hospital) ; Toumba, M. (Aretaeio Hospital Nicosia) ; Canu, Letizia (University of Florence) ; Vojtková, J. (Jessenius Medical Faculty Comenius University) ; Al-Mrayat, M. (University Hospital Southampton -NHS Foundation Trust) ; Fassnacht, M. (University Hospital Würzburg) ; Detomas, M. (University Hospital Würzburg) ; Karavitaki, N. (Birmingham Health Partners) ; van der Klauw, M.M. (University Medical Centre Groningen) ; Groselj, U. (University Children's Hospital) ; Elenkova, A. (Medical University Sofia) ; Unuane, D. (UZ Brussels) ; Universitat Autònoma de Barcelona
Cushing's syndrome (CS) is associated with an hypercoagulable state and an increased risk of venous thromboembolism (VTE). Evidence-based guidelines on thromboprophylaxis strategies in patients with CS are currently lacking. [...]
2022 - 10.1186/s13023-022-02320-x
Orphanet Journal of Rare Diseases, Vol. 17 Núm. 1 (december 2022) , p. 178  
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2.
7 p, 1.1 MB Survey on the management of Pompe disease in routine clinical practice in Spain / Domínguez-González, C (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Díaz-Marín, Carmina (Hospital General Universitario de Alicante (Alacant, País Valencià)) ; Juntas-Morales, Raúl (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Nascimiento-Osorio, Andrés (Hospital Sant Joan de Déu. Unitat Neuromuscular. Servei de Neurologia. Recerca aplicada en malalties neuromusculars. Institut de Recerca Sant Joan de Déu. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER). Instituto de Salud Carlos III) ; Rivera-Gallego, Alberto (Hospital Álvaro Cunqueiro (Vigo)) ; Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau)
Background: Despite the availability of several clinical guidelines, not all health professionals use their recommendations to manage patients with Pompe disease, a rare genetic disorder involving high-impact therapy. [...]
2022 - 10.1186/s13023-022-02574-5
Orphanet Journal of Rare Diseases, Vol. 17 Núm. 1 (december 2022) , p. 426  
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3.
11 p, 1.1 MB Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome : clinical and genetic study in a series of Spanish patients / Pena-Couso, Laura (Centro Nacional de Investigaciones Oncológicas Carlos III (Espanya). Familial Cancer Clinical Unit) ; Ercibengoa Arana, Maria (Respiratory Infection and Antimicrobial Resistance Group. Infectious Diseases Area. BioDonostia; Microbiology Department. Osakidetza Basque Health Service. Donostialdea Integrated Health Organization) ; Mercadillo, Fátima (Familial Cancer Clinical Unit. Spanish National Cancer Research Centre (CNIO)) ; Gómez-Sánchez, David (Clinical and Translational Lung Cancer Research Unit. i+12 Research Institute and Biomedical Research Networking Center in Oncology (CIBERONC)) ; Inglada-Pérez, Lucia (Biostatistics Unit. Statistics and Operational Research Department. Faculty of Medicine. Complutense University of Madrid) ; Santos, Maria Lucia S.F. (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre (CNIO)) ; Lanillos, Javier (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre (CNIO)) ; Gutiérrez-Abad, David (Medical Oncology Service. University Hospital of Fuenlabrada) ; Hernández, Almudena (Dermatology Service. University Hospital of Fuenlabrada) ; Carbonell, Pablo (Biochemistry and Clinical Genetics Centre. Virgen Arrixaca University Hospital) ; Letón, Rocío (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre (CNIO)) ; Robledo, Mercedes (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Rodriguez-Antona, Cristina (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Perea García, José (Health Research Institute-Fundación Jiménez Díaz University Hospital) ; Urioste, Miguel (Familial Cancer Clinical Unit. Spanish National Cancer Research Centre (CNIO)) ; Alonso, Miguel Ángel (Virgen del Camino Hospital) ; Andrés, Raquel (0000-0002-0762-6415) ; Arévalo, Sara (Hospital of Donostia) ; Arias, Maria del Mar (Virgen del Camino Hospital) ; Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ; Beristain, Elena (Txagorritxu Hospital) ; Blanco Guillermo, Ignacio (Institut Català d'Oncologia) ; Boronat, Mauro (Hospital of Gran Canaria) ; Brunet, Joan (Institut Català d'Oncologia) ; Cózar-León, Victoria (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; del Campo Casanelles, Miguel (Hospital Universitari Vall d'Hebron) ; Díaz, Arantza (Móstoles Hospital) ; Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Barcina, María Jesús (Hospital de Basurto (Bilbao, Biscaia)) ; González, Margarita (Can Misses Hospital) ; Guitart, Miriam (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Hernán, Imma (Terrassa Hospital) ; Hernández, Héctor Salvador (Sant Joan de Déu Hospital) ; Hernando, Susana (Alcorcón Hospital) ; Lacambra, Carmen (Severo Ochoa Hospital) ; Lasa, Adriana (Institut d'Investigació Biomèdica Sant Pau) ; Lastra, Enrique (Hospital of Burgos) ; Llort, Gemma (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; del Rosario Marín, Maria (Puerta del Mar Hospital) ; Marrupe, David (Móstoles Hospital) ; Martínez, Francisco (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ; Martínez, Victor (La Paz Hospital) ; Martorell, Loreto (Sant Joan de Déu Hospital) ; Orera, Maria (Gregorio Marañón Hospital) ; Pedrinaci, Susana (Hospital Universitario Virgen de las Nieves (Granada)) ; Pérez, Pedro (San Carlos Hospital) ; Pineda, Marta (Institut Català d'Oncologia) ; Plasencia, Ana Maria (Asturias Central Hospital) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Robles, Luis ; Rodà, Diana (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Rodríguez, Nuria (La Paz Hospital) ; Rosell Andreo, Jordi (Son Dureta Hospital) ; Sáez, Raquel (Hospital of Donostia) ; Salvat, Monica (Sant Joan de Reus) ; Sánchez, Antonio (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ; Santana, Alfredo (Hospital of Gran Canaria) ; Soto, Jose Luis (General Hospital of Elche) ; Toll, Agustin (Del Mar Hospital) ; Tuneu, Anna (Hospital of Donostia) ; Vázquez, Carlos (Hospital of Gran Canaria)
Background: The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish population and to identify new genes potentially associated with the disease. [...]
2022 - 10.1186/s13023-021-02079-7
Orphanet Journal of Rare Diseases, Vol. 17 Núm. 1 (december 2022) , p. 85  
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