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15 p, 949.7 KB |
An update on the use of tolvaptan for autosomal dominant polycystic kidney disease : Consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International
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Müller, Roman-Ulrich U. (Cecad. University of Cologne. Faculty of Medicine and University Hospital Cologne) ;
Messchendorp, A. Lianne (Department of Nephrology. University Medical Center Groningen. University of Groningen) ;
Birn, Henrik (Departments of Clinical Medicine and Biomedicine. Aarhus University) ;
Capasso, Giovambattista (Biogem Institute for Molecular Biology and Genetics) ;
Cornec-Le Gall, Emilie (University Brest. Inserm. Umr 1078. GGB. Chu Brest) ;
Devuyst, Olivier (Division of Nephrology. Ucl Medical School) ;
Van Eerde, Albertien (Department of Genetics. University Medical Center Utrecht) ;
Guirchoun, Patrick (Association PolyKystose France (PKD France)) ;
Harris, Tess (Pkd International) ;
Hoorn, Ewout J. (University Medical Center Rotterdam) ;
Knoers, Nine V.A.M. (Department Genetics. University Medical Centre Groningen) ;
Korst, Uwe (Pkd Familiäre Zystennieren E.V.) ;
Mekahli, Djalila (Department of Pediatric Nephrology and Organ Transplantation. University Hospitals Leuven) ;
Le Meur, Yannick (Department of Nephrology. Hemodialysis and Renal Transplantation. Chu and University of Brest) ;
Nijenhuis, Tom (Radboud University Medical Center) ;
Ong, Albert C.M. (Sheffield Kidney Institute. Sheffield Teaching Hospitals Nhs Foundation Trust) ;
Sayer, John A. (Translational and Clinical Research Institute. Faculty of Medical Sciences. Newcastle University) ;
Schaefer, Franz (Division of Pediatric Nephrology. Center for Pediatrics and Adolescent Medicine. Heidelberg University Hospital) ;
Servais, Aaude (Nephrology and Transplantation Department. Necker University Hospital. Aphp) ;
Tesar, Vladimir (Department of Nephrology. 1st Faculty of Medicine. General University Hospital) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Walsh, Stephen B. (Department of Renal Medicine. University College London) ;
Gansevoort, Roon T. (Department of Nephrology. University Medical Center Groningen. University of Groningen) ;
Universitat Autònoma de Barcelona
Approval of the vasopressin V2 receptor antagonist tolvaptan-based on the landmark TEMPO 3:4 trial-marked a transformation in the management of autosomal dominant polycystic kidney disease (ADPKD). This development has advanced patient care in ADPKD from general measures to prevent progression of chronic kidney disease to targeting disease-specific mechanisms. [...]
2022 -  10.1093/ndt/gfab312
Nephrology Dialysis Transplantation, Vol. 37 Núm. 5 (january 2022) , p. 825-839
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11 p, 1.6 MB |
Protocol for a randomized controlled multicenter trial assessing the efficacy of leuprorelin for severe polycystic liver disease : the AGAINST-PLD study
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Aapkes, S.E. (Department of Nephrology. University Medical Center Groningen. University of Groningen) ;
Bernts, L.H.P. (Department of Gastroenterology and Hepatology. Radboud University Medical Center) ;
van den Berg, A.P. (Department of Gastroenterology and Hepatology. University Medical Center Groningen. University of Groningen) ;
van den Berg, M. (Department of Obstetrics and Gynecology. University Medical Center Groningen. University of Groningen) ;
Blokzijl, H. (Department of Gastroenterology and Hepatology. University Medical Center Groningen. University of Groningen) ;
Cantineau, Astrid E P (Department of Obstetrics and Gynecology. University Medical Center Groningen. University of Groningen) ;
van Gastel, M.D.A. (Department of Nephrology. University Medical Center Groningen. University of Groningen) ;
de Haas, R.J. (Department of Radiology. University Medical Center Groningen. University of Groningen) ;
Kappert, P. (Department of Radiology. University Medical Center Groningen. University of Groningen) ;
Müller, R.U. (Department II of Internal Medicine and Center for Molecular Medicine Cologne. Faculty of Medicine. University Hospital Cologne. University of Cologne) ;
Nevens, F. (Department of Gastroenterology and Hepatology. Universiteitsziekenhuis Leuven) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Visser, A. (Department of Applied Health Sciences. University Medical Center Groningen. University of Groningen) ;
Drenth, J.P.H. (Department of Gastroenterology and Hepatology. Radboud University Medical Center) ;
Gansevoort, R.T. (Department of Nephrology. University Medical Center Groningen. University of Groningen)
Background: In patients with severe polycystic liver disease (PLD), there is a need for new treatments. Estrogens and possibly other female sex hormones stimulate growth in PLD. In some patients, liver volume decreases after menopause. [...]
2022 - 10.1186/s12876-022-02142-y
BMC Gastroenterology, Vol. 22 Núm. 1 (december 2022) , p. 82
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23 p, 654.2 KB |
Consensus document on autosomal dominant polycystic kindey disease from the Spanish Working Group on Inherited Kindey Diseases. Review 2020 Documento de consenso de poliquistosis renal autosómica dominante del grupo de trabajo de enfermedades hereditarias de la Sociedad Española de Nefrología. Revisión 2020
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Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ;
Bernis, C. (Hospital Universitario de la Princesa (Madrid)) ;
Fraga Rodríguez, Gloria María (Institut d'Investigació Biomèdica Sant Pau) ;
Furlano, Monica (Institut d'Investigació Biomèdica Sant Pau) ;
Martínez, V. (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ;
Martins, J. (Servicio de Nefrología. Hospital Universitario de Getafe. Universidad Europea de Madrid) ;
Ortiz, A. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Pérez-Gómez, M.V. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Rodríguez-Pérez, J.C. (Hospital Universitario de Gran Canaria Dr. Negrín) ;
Sans, L. (Hospital del Mar (Barcelona, Catalunya)) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent cause of genetic renal disease and accounts for 6-10% of patients on kidney replacement therapy (KRT). Very few prospective, randomized trials or clinical studies address the diagnosis and management of this relatively frequent disorder. [...]
2022 - 10.1016/j.nefroe.2022.11.011
Nefrología (Badalona. English), Vol. 42 Núm. 4 (enero 2022) , p. 367-389
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18 p, 1.3 MB |
Non-Alcoholic Fatty Liver Disease in Patients with Polycystic Ovary Syndrome : A Systematic Review, Meta-Analysis, and Meta-Regression
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Manzano-Nuñez, Ramiro (Universitat Autònoma de Barcelona. Facultat de Medicina) ;
Santana-Dominguez, Marta (Hospital Clínic i Provincial de Barcelona) ;
Rivera-Esteban, Jesús (Universitat Autònoma de Barcelona. Facultat de Medicina) ;
Sabiote, Clara (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Sena, Elena (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Bañares, Juan (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Tacke, Frank (Charité - Universitätsmedizin Berlin) ;
Pericàs, Juan M. (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas)
Background: The metabolic effects of polycystic ovary syndrome (PCOS) may increase the risk of non-alcoholic fatty liver disease (NAFLD). However, the burden of NAFLD in PCOS has not been unequivocally defined. [...]
2023 - 10.3390/jcm12030856
Journal of clinical medicine, Vol. 12 (january 2023)
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10 p, 871.7 KB |
Cardiovascular risk factors and the impact on prognosis in patients with chronic kidney disease secondary to autosomal dominant polycystic kidney disease
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Gorriz, José Luis (Universitat de València) ;
Arroyo, David (Hospital General Universitario Gregorio Marañón) ;
D'Marco, Luis (Universitat de València) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Tomás, Patricia (Universitat de València) ;
Puchades, María Jesús (Universitat de València) ;
Panizo, Nayara (Universitat de València) ;
Pantoja, Jonay (Universitat de València) ;
Montomoli, Marco (Universitat de València) ;
Llisterri, José Luis (Clinica Vallada, , Valencia) ;
Pallares-Carratala, Vicente (Universitat Jaume I) ;
Valdivielso, José Manuel (Universitat de Lleida) ;
Universitat Autònoma de Barcelona
Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease. There is an increased rate of cardiovascular disease (CVD) in ADPKD. In this study, we evaluate the prevalence of cardiovascular risk factors, the achievement rates for treatment goals and cardiovascular events (CVE) in ADPKD and their relations with asymptomatic CVD in CKD from other etiologies (CKDoe) and controls. [...]
2021 - 10.1186/s12882-021-02313-1
BMC Nephrology, Vol. 22 (march 2021)
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7 p, 316.1 KB |
Renal volume and cardiovascular risk assessment in normotensive autosomal dominant polycystic kidney disease patients
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Sans, Laia (Red de Investigación Renal) ;
Pascual, Julio (Pascual Santos) (Red de Investigación Renal) ;
Radosevic, Aleksandar (Hospital del Mar (Barcelona, Catalunya)) ;
Quintian, Claudia (Institut d'Investigació Biomèdica Sant Pau) ;
Ble, Mireia (Hospital del Mar (Barcelona, Catalunya)) ;
Molina, Lluís (Hospital del Mar (Barcelona, Catalunya)) ;
Mojal, Sergi (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Ballarín Castan, José Aurelio (Institut d'Investigació Biomèdica Sant Pau) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Fernandez-Llama, Patricia (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
Cardiovascular disease, closely related to an early appearance of hypertension, is the most common mortality cause among autosomal dominant polycystic kidney disease patients (ADPKD). The development of hypertension is related to an increase in renal volume. [...]
2016 - 10.1097/MD.0000000000005595
Medicine, Vol. 95 (december 2016)
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4 p, 495.0 KB |
Complete laparoscopic excision of a hepatic cyst and omentopexy in a Persian cat
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Lafuente, Sofía (Universitat Autònoma de Barcelona. Fundació Hospital Clínic Veterinari) ;
Fresno, Laura (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ;
Anselmi, Carlo (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ;
Lloret Roca, Albert (Universitat Autònoma de Barcelona. Hospital Clínic Veterinari) ;
Espada, Yvonne (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ;
Santos Benito, Laura (Universitat Autònoma de Barcelona. Fundació Hospital Clínic Veterinari)
Congenital or acquired hepatic cystic lesions in cats are a rare condition. Congenital hepatic cysts are often present as part of a systemic polycystic disease involving several organs. Most cats with hepatic cysts remain clinically normal for their lives, although some patients may show abdominal distension, vomiting, abdominal pain and jaundice. [...]
2018 - 10.1177/2055116918817631
Journal of feline medicine and surgery open reports, Vol. 4 (december 2018)
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7 p, 1.3 MB |
Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated
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Cabrera-López, Cristina (Institut d'Investigació Biomèdica Sant Pau) ;
Bullich Vilanova, Gemma (Institut d'Investigació Biomèdica Sant Pau) ;
Martí, Teresa (Institut d'Investigació Biomèdica Sant Pau) ;
Català, Violeta (Institut d'Investigació Biomèdica Sant Pau) ;
Ballarín Castan, José Aurelio (Institut d'Investigació Biomèdica Sant Pau) ;
Bissler, John (Le Bonheur Children's Hospital) ;
Harris, Peter C. (Mayo Clinic) ;
Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), while mutations in PKD1 or PKD2 cause autosomal dominant polycystic kidney disease (ADPKD). PKD1 lays immediately adjacent to TSC2 and deletions involving both genes, the PKD1/TSC2 contiguous gene syndrome (CGS), are characterized by severe ADPKD, plus TSC. [...]
2015 - 10.1186/s12881-015-0185-y
BMC Medical Genetics, Vol. 16 (june 2015)
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10 p, 715.2 KB |
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing
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Trujillano, Daniel (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ;
Bullich Vilanova, Gemma (Institut d'Investigació Biomèdica Sant Pau) ;
Ossowski, Stephan (Universitat Pompeu Fabra) ;
Ballarín Castan, José Aurelio (Institut d'Investigació Biomèdica Sant Pau) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Estivill, Xavier (Grup Quirónsalud (Barcelona, Catalunya)) ;
Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
Molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) relies on mutation screening of PKD1 and PKD2, which is complicated by extensive allelic heterogeneity and the presence of six highly homologous sequences of PKD1. [...]
2014 - 10.1002/mgg3.82
Molecular genetics & genomic medicine, Vol. 2 (may 2014) , p. 412-421
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