Zobrazeno 1 - 10
of 147
pro vyhledávání: '"Juan Pablo Kaski"'
Autor:
Olga Boleti, Gabrielle Norrish, Ella Field, Kathleen Dady, Kim Summers, Gauri Nepali, Vinay Bhole, Orhan Uzun, Amos Wong, Piers E. F. Daubeney, Graham Stuart, Precylia Fernandes, Karen McLeod, Maria Ilina, Muhammad Najih Liaqath Ali, Tara Bharucha, Grazia Delle Donne, Elspeth Brown, Katie Linter, Caroline B. Jones, Jonathan Searle, William Regan, Sujeev Mathur, Nicola Boyd, Zdenka Reinhardt, Sophie Duignan, Terence Prendiville, Satish Adwani, Juan Pablo Kaski
Publikováno v:
ESC Heart Failure, Vol 11, Iss 2, Pp 923-936 (2024)
Abstract Aims This study aimed to describe the natural history and predictors of all‐cause mortality and sudden cardiac death (SCD)/equivalent events in children with a RASopathy syndrome and hypertrophic cardiomyopathy (HCM). Methods and results T
Externí odkaz:
https://doaj.org/article/774801a5c3044f99889a58c53cfad13e
Autor:
Carlos Bueno-Beti, PhD, Alessandro Tafuni, MD, Stephen P. Chelko, PhD, FHRS, Mary N. Sheppard, MD, Ella Field, MSc, Jennifer Tollit, MSc, Imogen K. Heenan, BSc, Annabelle Barnes, BSc, Matthew R. Taylor, MD, PhD, Luisa Mestroni, MD, Juan Pablo Kaski, MD, Jeffrey E. Saffitz, MD, PhD, FHRS, Angeliki Asimaki, PhD
Publikováno v:
Heart Rhythm O2, Vol 4, Iss 10, Pp 650-659 (2023)
Background: Nuclear factor κB (NF-κB) signaling in cardiac myocytes causes disease in a mouse model of arrhythmogenic cardiomyopathy (ACM) by mobilizing CCR2-expressing macrophages that promote myocardial injury and arrhythmias. Buccal mucosa cells
Externí odkaz:
https://doaj.org/article/69f01d83a22a45aeb9b4b55a5b34fdc1
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Externí odkaz:
https://doaj.org/article/b56d5a415e3e4d6a970d2515d17e346e
Autor:
Alicia Romano, Juan Pablo Kaski, Jovanna Dahlgren, Nicky Kelepouris, Alberto Pietropoli, Tilman R Rohrer, Michel Polak
Publikováno v:
Endocrine Connections, Vol 11, Iss 1, Pp 1-6 (2022)
Objective: The study aims to assess the cardiovascular safety of growth hormone (GH) treatment in patients with Noonan syndrome (NS) in clinical pra ctice. Design: The study design involves two observational, multicentre studies (NordiNet® IOS and t
Externí odkaz:
https://doaj.org/article/688bf45a9a424950b688c40b0929d9e2
Autor:
Gabrielle Norrish, Gali Kolt, Elena Cervi, Ella Field, Kathleen Dady, Lidia Ziółkowska, Iacopo Olivotto, Silvia Favilli, Silvia Passantino, Giuseppe Limongelli, Martina Caiazza, Marta Rubino, Anwar Baban, Fabrizio Drago, Karen Mcleod, Maria Ilina, Ruth McGowan, Graham Stuart, Vinay Bhole, Orhan Uzun, Amos Wong, Laz Lazarou, Elspeth Brown, Piers E.F. Daubeney, Amrit Lota, Grazia Delle Donne, Katie Linter, Sujeev Mathur, Tara Bharucha, Satish Adwani, Jon Searle, Anca Popoiu, Caroline B. Jones, Zdenka Reinhardt, Juan Pablo Kaski
Publikováno v:
ESC Heart Failure, Vol 8, Iss 6, Pp 5057-5067 (2021)
Abstract Aims Children presenting with hypertrophic cardiomyopathy (HCM) in infancy are reported to have a poor prognosis, but this heterogeneous group has not been systematically characterized. This study aimed to describe the aetiology, phenotype,
Externí odkaz:
https://doaj.org/article/606e02324a3e411484c1c9f074115236
Autor:
Laia Brunet Garcia, Ankita Hajra, Ella Field, Joseph Wacher, Helen Walsh, Gabrielle Norrish, Adnan Manzur, Francesco Muntoni, Pinki Munot, Stephanie Robb, Rosaline Quinlivan, Mariacristina Scoto, Giovanni Baranello, Anna Sarkozy, Luke Starling, Juan Pablo Kaski, Elena Cervi
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Myotonic dystrophy type 1 (DM1) is the most prevalent inherited neuromuscular dystrophy in adults. It is a multisystem disease with cardiac manifestations. Whilst these are well-defined in adults, there are scarce published data in the pediatric popu
Externí odkaz:
https://doaj.org/article/3fb4b718270d4f3b9aae0d632cd63a13
Autor:
Claire M. Lawley, Juan Pablo Kaski
Publikováno v:
Journal of Clinical Medicine, Vol 12, Iss 8, p 2788 (2023)
Hypertrophic cardiomyopathy (HCM) is an important cause of morbidity and mortality in children. While the aetiology is heterogeneous, most cases are caused by variants in the genes encoding components of the cardiac sarcomere, which are inherited as
Externí odkaz:
https://doaj.org/article/9e07de900b1c485f8623773d922bdebe
Autor:
Folkert W. Asselbergs, Arjan Sammani, Perry Elliott, Juan R. Gimeno, Luigi Tavazzi, Michael Tendera, Juan Pablo Kaski, Aldo P. Maggioni, Pawel P. Rubis, Ruxandra Jurcut, Tiina Heliö, Leonardo Calò, Gianfranco Sinagra, Marija Zdravkovic, Iacopo Olivotto, Aušra Kavoliūnienė, Cécile Laroche, Alida L.P. Caforio, Philippe Charron, Cardiomyopathy & Myocarditis Registry Investigators Group
Publikováno v:
ESC Heart Failure, Vol 8, Iss 1, Pp 95-105 (2021)
Abstract Aims Dilated cardiomyopathy (DCM) is a complex disease where genetics interplay with extrinsic factors. This study aims to compare the phenotype, management, and outcome of familial DCM (FDCM) and non‐familial (sporadic) DCM (SDCM) across
Externí odkaz:
https://doaj.org/article/4e2a90f75eb94e76a313e3119b06e3e2
Autor:
Katarzyna Mizia‐Stec, Alida L.P. Caforio, Philippe Charron, Juan R. Gimeno, Perry Elliott, Juan Pablo Kaski, Aldo P. Maggioni, Luigi Tavazzi, Angelos G. Rigopoulos, Cecile Laroche, Attila Frigy, Elisabetta Zachara, Maria Luisa Pena‐Pena, Akinsanya Olusegun‐Joseph, Yigal Pinto, Simone Sala, Fabrizio Drago, Olga Blagova, Elena Reznik, Michał Tendera
Publikováno v:
ESC Heart Failure, Vol 7, Iss 6, Pp 3601-3609 (2020)
Abstract Aims Cardiomyopathies are a heterogeneous group of disorders that increase the risk for atrial fibrillation (AF). The aim of the study is to assess the prevalence of AF, anticoagulation management, and risk of stroke/transient ischaemic atta
Externí odkaz:
https://doaj.org/article/b7a3f2a7306041f3922c516fa4801b23
Autor:
Constance Maurer, Olga Boleti, Paria Najarzadeh Torbati, Farzaneh Norouzi, Anna Nicole Rebekah Fowler, Shima Minaee, Khalid Hama Salih, Mehdi Taherpour, Hassan Birjandi, Behzad Alizadeh, Aso Faeq Salih, Moniba Bijari, Henry Houlden, Alan Michael Pittman, Reza Maroofian, Yahya H. Almashham, Ehsan Ghayoor Karimiani, Juan Pablo Kaski, Eissa Ali Faqeih, Farveh Vakilian, Yalda Jamshidi
Publikováno v:
Genes, Vol 14, Iss 1, p 182 (2023)
Inherited cardiomyopathies are a prevalent cause of heart failure and sudden cardiac death. Both hypertrophic (HCM) and dilated cardiomyopathy (DCM) are genetically heterogeneous and typically present with an autosomal dominant mode of transmission.
Externí odkaz:
https://doaj.org/article/e785a65c30aa459ebac7e37db2d83506