Search Results - "Vincenti, Marie"
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Health-related quality of life in children with congenital heart disease aged 5 to 7 years: a multicentre controlled cross-sectional study
Published in Health and quality of life outcomes (12-11-2020)“…In the context of tremendous progress in congenital cardiology, more attention has been given to patient-related outcomes, especially in assessing…”
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Use of speckle tracking echocardiography to detect late anthracycline-induced cardiotoxicity in childhood cancer: A prospective controlled cross-sectional study
Published in International journal of cardiology (01-05-2022)“…This study aimed to detect late sub-clinical patterns of cardiac dysfunction using speckle tracking echocardiography (STE) in children with cancer remission…”
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Generation of patient-specific induced pluripotent stem cell lines with Type 2 Long QT Syndrome and the KCNH2 c.379C > T pathogenic variant
Published in Stem cell research (01-10-2023)“…Type 2 Long QT Syndrome (LQT2) is a rare genetic heart rhythm disorder causing life-threatening arrhythmias. We derived induced pluripotent stem cell (iPSC)…”
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Impact of a transition education program on health-related quality of life in pediatric patients with congenital heart disease: study design for a randomised controlled trial
Published in Health and quality of life outcomes (19-01-2021)“…Recent advances in the field of congenital heart disease (CHD) led to an improved prognosis of the patients and in consequence the growth of a new population:…”
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Use of T1 mapping in cardiac MRI for the follow-up of Fabry disease in a pediatric population
Published in Molecular genetics and metabolism reports (01-03-2024)“…Fabry disease (FD) is a rare X-linked lysosomal disorder caused by pathogenic variants in the alpha-galactosidase-A gene (GLA). Life threatening complications…”
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Dystrophin Deficiency Causes Progressive Depletion of Cardiovascular Progenitor Cells in the Heart
Published in International journal of molecular sciences (01-05-2021)“…Duchenne muscular dystrophy (DMD) is a devastating condition shortening the lifespan of young men. DMD patients suffer from age-related dilated cardiomyopathy…”
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Cardiac rehabilitation in children and adolescents with long QT syndrome: the RYTHMO'FIT pilot study
Published in BMC sports science, medicine & rehabilitation (12-07-2024)“…To assess the feasibility, acceptability, safety, and short-term benefits of a tailored cardiac rehabilitation program for children and adolescents with long…”
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Health-related quality of life and physical activity in children with inherited cardiac arrhythmia or inherited cardiomyopathy: the prospective multicentre controlled QUALIMYORYTHM study rationale, design and methods
Published in Health and quality of life outcomes (28-07-2021)“…Abstract Background Advances in paediatric cardiology have improved the prognosis of children with inherited cardiac disorders. However, health-related quality…”
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Ryanodine receptor dysfunction causes senescence and fibrosis in Duchenne dilated cardiomyopathy
Published in Journal of cachexia, sarcopenia and muscle (01-04-2024)“…Background Duchenne muscular dystrophy (DMD) is an X‐linked disorder characterized by progressive muscle weakness due to the absence of functional dystrophin…”
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Generation of catecholaminergic polymorphic ventricular tachycardia patient-specific induced pluripotent stem cell line
Published in Stem cell research (01-04-2022)“…Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a genetic disorder characterized by ventricular tachycardia, that can cause the heart to stop…”
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Diazoxide Causality Assessment of a Pericardial Effusion in a Child with Kabuki Syndrome
Published in Journal of clinical research in pediatric endocrinology (01-06-2019)“…A 15 month-old girl with KS (KDM6A mutation) was referred to our tertiary care paediatric cardiology centre for respiratory and hemodynamic distress. Her…”
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Cardiorespiratory fitness, muscle fitness, and physical activity in children with long QT syndrome: A prospective controlled study
Published in Frontiers in cardiovascular medicine (11-01-2023)“…In children with congenital long QT syndrome (LQTS), the risk of arrhythmic events during exercise commonly makes it difficult to balance exercise restrictions…”
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How should we determine normal echocardiographic right ventricle function reference values in pediatrics?
Published in International Journal of Cardiovascular Imaging (01-02-2019)“…Several models have been used to establish pediatric Z-scores for echocardiographic right ventricle (RV) variables. This study aimed to determine the most…”
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Reference Values of Cardiopulmonary Exercise Test Parameters in the Contemporary Paediatric Population
Published in Sports medicine - open (01-08-2023)“…Background The evaluation of health status by cardiopulmonary exercise test (CPET) has shown increasing interest in the paediatric population. Our group…”
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Thoracic computed tomography in absent pulmonary valve syndrome management
Published in Pediatrics international (01-12-2012)“…A neonate with absent pulmonary valve syndrome (APVS) and features of tetralogy of Fallot presented respiratory distress. The prolonged need for mechanical…”
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Cardiopulmonary fitness in children with congenital heart diseases versus healthy children
Published in Heart (British Cardiac Society) (01-06-2018)“…We aimed to compare the cardiopulmonary fitness of children with congenital heart diseases (CHD) with that of age-adjusted and gender-adjusted controls. We…”
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Isolated Ventricular Inversion: A Rare Complex Congenital Heart Disease With Neonatal Cyanosis
Published in JACC. Case reports (15-02-2023)“…A 1-day-old girl was referred for a cardiology consultation for a mean saturation at 80% without respiratory distress. Echocardiography showed an isolated…”
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Isolated Ventricular Inversion
Published in JACC. Case reports (15-02-2023)“…A 1-day-old girl was referred for a cardiology consultation for a mean saturation at 80% without respiratory distress. Echocardiography showed an isolated…”
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Early Myocardial Dysfunction and Benefits of Cardiac Treatment in Young X-Linked Duchenne Muscular Dystrophy Mice
Published in Cardiovascular drugs and therapy (01-10-2022)“…Context Duchenne muscular dystrophy (DMD) is associated with a progressive alteration in cardiac function. Objective The aim of this study was to detect early…”
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