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Articles, 25 registres trobats
Documents de recerca, 4 registres trobats
Articles 25 registres trobats  1 - 10següentfinal  anar al registre:
1.
10 p, 1.7 MB The 2019 and 2021 International Workshops on Alport Syndrome / Daga, Sergio (University of Siena) ; Ding, Jie (Peking University First Hospital) ; Savige, Judy (The University of Melbourne) ; Lipska-Ziętkiewicz, Beata S. (Medical University of Gdańsk) ; Hoefele, Julia (Technical University of Munich) ; Flinter, Frances (Guys' and St Thomas' NHS Foundation Trust) ; Gale, Daniel P. (UK Renal Registry. Rare Renal Disease Registry) ; Aksenova, Marina (Y. Veltischev Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University) ; Kai, Hirofumi (Kumamoto University) ; Perin, Laura (University of Southern California) ; Barua, Moumita (University of Toronto) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Miner, Jeff H. (Washington University School of Medicine) ; Massella, Laura (Bambino Gesù Children's Hospital-IRCCS) ; Ljubanović, Danica Galešić (University of Zagreb) ; Lennon, Rachel (The University of Manchester) ; Weinstock, Andrè B. (Alport Syndrome Foundation) ; Knebelmann, Bertrand (Paris University, Paris, France) ; Cerkauskaite, Agne (Vilnius University Hospital Santaros Klinikos) ; Gear, Susie (Alport UK, Tetbury, UK) ; Gross, Oliver (University Medicine Goettingen) ; Turner, A. Neil (University of Edinburgh) ; Baldassarri, Margherita (Azienda Ospedaliero-Universitaria Senese) ; Pinto, Anna Maria (Azienda Ospedaliero-Universitaria Senese) ; Renieri, Alessandra (Azienda Ospedaliero-Universitaria Senese) ; Universitat Autònoma de Barcelona
In 1927 Arthur Cecil Alport, a South African physician, described a British family with an inherited form of kidney disease that affected males more severely than females and was sometimes associated with hearing loss. [...]
2022 - 10.1038/s41431-022-01075-0
European Journal of Human Genetics, march 2022, p. 1-10  
2.
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 / 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-Carratalá, 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)  
3.
15 p, 1.1 MB Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease? / Hughes, Derralynn A. (University College London) ; Aguiar, Patrício (Lisbon University) ; Lidove, Olivier (Croix Saint Simon Hospital, Paris) ; Nicholls, Kathleen (University of Melbourne) ; Nowak, Albina (University Hospital Zurich (Suïssa)) ; Thomas, Mark (Cincinnati Children's Hospital Medical Center (CCHMC). Center for Fetal and Placental Research) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Vujkovac, Bojan (General Hospital Slovenj Gradec) ; West, Michael L. (Dalhousie University) ; Feriozzi, Sandro (Belcolle Hospital) ; Universitat Autònoma de Barcelona
Variable disease progression confounds accurate prognosis in Fabry disease. Evidence supports the long-term benefit of early intervention with disease-specific therapy, but current guidelines recommend treatment initiation based on signs that may present too late to avoid irreversible organ damage. [...]
2022 - 10.1186/s13023-022-02181-4
Orphanet Journal of Rare Diseases, Vol. 17 (february 2022)  
4.
7 p, 316.1 KB Renal volume and cardiovascular risk assessment in normotensive autosomal dominant polycystic kidney disease patients / 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)  
5.
9 p, 499.7 KB Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex : a Spanish expanded access trial / Robles, Nicolás Roberto (Department of Nephrology, Hospital Universitario Infanta Cristina, REDINREN, Avenida de Elvas, S/N, 06006 Badajoz, Spain) ; Peces, Ramón (Hospital Universitario La Paz (Madrid)) ; Gómez-Ferrer, Álvaro (Fundació Institut Valencià d'Oncologia) ; Villacampa, Felipe (Hospital Universitario 12 de Octubre (Madrid)) ; Álvarez-Ossorio, Jose Luis (Hospital Universitario Puerta del Mar (Cadis, Andalusia)) ; Morote Robles, Juan (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Herrera-Imbroda, Bernardo (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Nieto, Javier (Hospital General Universitario de Ciudad Real) ; Carballido, Joaquín (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ; Anido, Urbano (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Valero, Marian (Novartis Farmacéutica S.A (Barcelona)) ; Meseguer, Cristina (Novartis Farmacéutica S.A (Barcelona)) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Renal angiomyolipomas (AML) are usual manifestations of tuberous sclerosis complex (TSC) that may cause aneurism-related haemorrhages and renal impairment. Everolimus has emerged as an alternative to surgery/embolization. [...]
2016 - 10.1186/s13023-016-0517-9
Orphanet Journal of Rare Diseases, Vol. 11 (september 2016)  
6.
13 p, 275.9 KB X-Linked and Autosomal Recessive Alport Syndrome : Pathogenic Variant Features and Further Genotype-Phenotype Correlations / Savige, Judith (The University of Melbourne, Melbourne, Australia) ; Storey, Helen (Guy's and St Thomas' NHS Foundation Trust (Regne Unit)) ; Il Cheong, Hae (Seoul National University Hospital, Seoul, Korea) ; Gyung Kang, Hee (Seoul National University Hospital, Seoul, Korea) ; Park, Eujin (Seoul National University Hospital, Seoul, Korea) ; Hilbert, Pascale (Institute de Pathologie et de Genetique ASBL (Bèlgica)) ; Persikov, Anton (Princeton University, Princeton, New Jersey, United States of America) ; Torres-Fernandez, Carmen (GENETAQ, Centro de Genética Molecular) ; Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Hertz, Jens Michael (Odense University Hospital (Dinamarca)) ; Thomassen, Mads (Odense University Hospital (Dinamarca)) ; Shagam, Lev (Pirogov Russian Medical University, Moscow, Russia) ; Wang, Dongmao (The University of Melbourne, Melbourne, Australia) ; Wang, Yanyan (The University of Melbourne, Melbourne, Australia) ; Flinter, Frances (Guy's and St Thomas' NHS Foundation Trust (Regne Unit)) ; Nagel, Mato (Centre for Nephrology and Metabolic Medicine, Weisswasser, Germany) ; Universitat Autònoma de Barcelona
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3 / COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic laboratories worldwide, in addition to all published COL4A5, COL4A3 and COL4A4 variants in the LOVD databases. [...]
2016 - 10.1371/journal.pone.0161802
PloS one, Vol. 11 (september 2016)  
7.
10 p, 1.3 MB Cystatin C estimated glomerular filtration rate to assess renal function in early stages of autosomal dominant polycystic kidney disease / Sans, Laia (Hospital del Mar (Barcelona, Catalunya)) ; Radosevic, Aleksandar (Hospital del Mar (Barcelona, Catalunya)) ; Quintian, Claudia (Institut d'Investigació Biomèdica Sant Pau) ; Montañés, Rosario (Institut d'Investigació Biomèdica Sant Pau) ; Gràcia, Silvia (Institut d'Investigació Biomèdica Sant Pau) ; Vilaplana, Carles (Laboratori de Referència de Catalunya, Barcelona) ; Mojal, Sergi (Institut Mar for Medical Research, Barcelona, Spain) ; Ballarín Castan, José Aurelio (Institut d'Investigació Biomèdica Sant Pau) ; Fernandez-Llama, Patricia (Institut d'Investigació Biomèdica Sant Pau) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Pascual, Julio (Pascual Santos) (Hospital del Mar (Barcelona, Catalunya)) ; Universitat Autònoma de Barcelona
Height-adjusted total kidney volume (htTKV) is the best marker of disease progression in early autosomal dominant polycystic kidney disease (ADPKD) when renal function still remains normal. The usefulness of cystatin-C as a biomarker to assess renal function according to renal volume has not been studied in ADPKD patients. [...]
2017 - 10.1371/journal.pone.0174583
PloS one, Vol. 12 (march 2017)  
8.
12 p, 1.2 MB Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation : findings from the opinion-based PREDICT-FD modified Delphi consensus initiative / Hughes, Derralynn A (University College London) ; Aguiar, Patrício (University of Lisbon) ; Deegan, Patrick B (University of Cambridge) ; Ezgu, Fatih (Gazi University) ; Frustaci, Andrea (University of Rome La Sapienza) ; Lidove, Olivier (Croix Saint Simon Hospital) ; Linhart, Aleš (First Faculty of Medicine, Charles University and General University Hospital) ; Lubanda, Jean-Claude (First Faculty of Medicine, Charles University and General University Hospital) ; Moon, James C (Barts Heart Centre) ; Nicholls, Kathleen (The University of Melbourne) ; Niu, Dau-Ming (National Yang-Ming University) ; Nowak, Albina (University Hospital Zurich (Suïssa)) ; Ramaswami, Uma (Royal Free Hospital) ; Reisin, Ricardo (British Hospital of Buenos Aires) ; Rozenfeld, Paula (Instituto de Estudios Inmunológicos y Fisiopatológicos, UNLP - CONICET, La Plata, Argentina) ; Schiffmann, Raphael (Baylor Research Institute) ; Svarstad, Einar (Haukeland University Hospital (Bergen, Noruega)) ; Thomas, Mark (Cincinnati Children's Hospital Medical Center) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Vujkovac, Bojan (General Hospital Slovenj Gradec) ; Warnock, David G (University of Alabama at Birmingham) ; West, Michael L (Dalhousie University) ; Johnson, Jack (Fabry International Network) ; Rolfe, Mark J (Oxford Pharmagenesis) ; Feriozzi, Sandro (Belcolle Hospital) ; Universitat Autònoma de Barcelona
The PRoposing Early Disease Indicators for Clinical Tracking in Fabry Disease (PREDICT-FD) initiative aimed to reach consensus among a panel of global experts on early indicators of disease progression that may justify FD-specific treatment initiation. [...]
2020 - 10.1136/bmjopen-2019-035182
BMJ open, Vol. 10 (october 2020)  
9.
9 p, 745.9 KB Long-term follow-up of renal function in patients treated with migalastat for Fabry disease / Bichet, Daniel G. (Department of Medicine, Hôpital du Sacré-Coeur, University of Montréal, Montreal, Quebec, Canada) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Wallace, Eric (Department of Medicine, University of Alabama, Birmingham, AL, USA) ; Hughes, Derralynn (Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust and University College London, London, UK) ; Giugliani, Roberto (Instituto Nacional de Genética Médica Populacional (Porto Alegre, Brasil)) ; Skuban, Nina (Amicus Therapeutics, Inc., Cranbury, NJ, USA) ; Krusinska, Eva (Amicus Therapeutics, Inc., Cranbury, NJ, USA) ; Feldt-Rasmussen, Ulla (Copenhagen University Hospital Rigshospitalet) ; Schiffmann, Raphael (Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX, USA) ; Nicholls, Kathy (Royal Melbourne Hospital (Melbourne, Austràlia)) ; Universitat Autònoma de Barcelona
The effect of migalastat on long-term renal outcomes in enzyme replacement therapy (ERT)-naive and ERT-experienced patients with Fabry disease is not well defined. An integrated posthoc analysis of the phase 3 clinical trials and open-label extension studies was conducted to evaluate long-term changes in renal function in patients with Fabry disease and amenable GLA variants who were treated with migalastat for ≥2 years during these studies. [...]
2021 - 10.1016/j.ymgmr.2021.100786
Molecular Genetics and Metabolism Reports, Vol. 28 (august 2021)  
10.
3 p, 447.5 KB How genomics reclassifies diseases : the case of Alport syndrome / Torra Balcells, Roser (Universitat Autònoma de Barcelona. Departament de Medicina) ; Furlano, Monica (Institut d'Investigació Biomèdica Sant Pau) ; Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau)
In this issue, Matthews et al. provide a comprehensive review of published cohorts with heterozygous pathogenic variants in COL4A3 or COL4A4, documenting the wide spectrum of the disease. Due to the extreme phenotypes that patients with heterozygous pathogenic variants in COL4A3 or COL4A4 may show, the disease has been referred to in a variety of ways, including 'autosomal dominant Alport syndrome', 'thin basement membrane disease', 'thin basement membrane nephropathy', 'familial benign hematuria' and 'carriers of autosomal dominant Alport syndrome'. [...]
2020 - 10.1093/ckj/sfaa170
Clinical Kidney Journal, Vol. 13 (september 2020) , p. 933-935  

Articles : 25 registres trobats   1 - 10següentfinal  anar al registre:
Documents de recerca 4 registres trobats  
1.
267 p, 11.8 MB Avances clínicos y genéticos en enfermedades renales hereditarias autosómicas dominantes / Furlano, Monica ; Torra Balcells, Roser, dir. ; Ars Criach, Elisabet, dir. ; Ballarín Castan, José Aurelio, dir. ; Webb, S. M. (Susan M.), 1952-, dir.
Les malalties renals hereditàries autosòmiques dominants (MRHAD) són les nefropaties genètiques més freqüents en l'edat adulta, essent la poliquistosi renal autosòmica dominant (PQRAD) i les nefropaties del col·lagen IV la primera i segona causa respectivament d'inici de teràpia renal substitutiva (TRS) de causa hereditària. [...]
Las enfermedades renales hereditárias autosómicas dominantes (ERHAD) son las nefropatias genéticas más frecuentes en la edad adulta, siendo la poliquistosis renal autosómica dominante (PQRAD) y las nefropatías del colágeno IV la primera y segunda causa respectivamente de inicio de terapia renal sustitutiva (TRS) de causa hereditaria. [...]
Autosomal dominant hereditary kidney diseases (ADHKD) are the most frequent genetic nephropathies in adulthood, being autosomal dominant polycystic kidney disease (ADPKD) and collagen IV nephropathies the first and second causes, of hereditary cause respectively, of initiation of kidney replacement therapy (KRT). [...]

2020  
2.
129 p, 1.6 MB Nefropatía tubulointersticial autosómica dominante / Ayasreh Fierro, Nadia ; Torra Balcells, Roser, dir. ; Ars Criach, Elisabet, dir. ; Benito Vales, S, (Salvador) dir. ; Universitat Autònoma de Barcelona. Departament de Medicina
La nefropatía tubulointersticial autosómica dominante (NTAD) es una enfermedad renal hereditaria que se caracteriza por un daño tubulointersticial crónico. Clínicamente cursa con una enfermedad renal crónica (ERC) de lenta evolución con ausencia o mínima proteinuria y ausencia de microhematuria, con una edad de enfermedad renal crónica terminal (ERCT) muy variable. [...]
[Bellaterra] : Universitat Autònoma de Barcelona, 2017.  
3.
87 p, 9.0 MB Molecular study of idiopathic nephrotic syndrome / Bullich Vilanova, Gemma ; Ars Criach, Elisabet, dir. ; Torra Balcells, Roser, dir. ; Nogués, Carme (Carme) (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia
Aquesta tesi és una contribució al coneixement de les bases moleculars de la síndrome nefròtica idiopàtica concretament, la nefropatia membranosa idiopàtica i la síndrome nefròtica córtico-resistent (SNCR) o glomeruloesclerosis segmentària i focal (GESF). [...]
This thesis is a contribution to the knowledge of the molecular bases of idiopathic nephrotic syndrome specifically, the idiopathic membranous nephropathy and steroid-resistant nephrotic syndrome (SRNS)/ focal segmental glomerulosclerosis (FSGS). [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2016
3 documents
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13 p, 158.1 KB Estudio clínico y mutacional de una cohorte de pacientes con mutación en el gen hnf1b / Ayasreh Fierro, Nadia ; Torra Balcells, Roser, dir. ; Universitat Autònoma de Barcelona. Departament de Medicina ; Universitat Autònoma de Barcelona. Facultat de Medicina
HNF1B (Hepatocyte Nuclear Factor 1-B localizado en el cromosoma 17q21. 3) es un factor de transcripción con un papel fundamental en los primeros estadios del desarrollo y en la organogénesis de diferentes tejidos como el renal, hepático, pancreático o genital. [...]
2013  

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