Search Results - "Pietilä‐Effati, Päivi"
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Long‐term effectiveness of enzyme replacement therapy in Fabry disease with the p.Arg227Ter variant: Fabry disease in Ostrobothnia (FAST) study
Published in American journal of medical genetics. Part A (01-07-2023)“…Fabry disease (FD) is an X chromosome‐linked, life‐threatening lysosomal disease caused by one of more than 1000 currently known variants in the…”
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Sudden death in cardiac sarcoidosis: an analysis of nationwide clinical and cause-of-death registries
Published in European heart journal (01-10-2019)“…Abstract Aims The present study was done to assess the role of sudden cardiac death (SCD) among the presenting manifestations of and fatalities from cardiac…”
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Manifestations and Outcome of Cardiac Sarcoidosis and Idiopathic Giant Cell Myocarditis by 25-Year Nationwide Cohorts
Published in Journal of the American Heart Association (16-03-2021)“…Background Cardiac sarcoidosis (CS) and giant cell myocarditis (GCM) share many histopathologic and clinical features. Whether they are parts of a one-disease…”
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Pulmonary manifestations and the effectiveness of enzyme replacement therapy in Fabry Disease with the p. Arg227Ter (p.R227) mutation
Published in Molecular genetics & genomic medicine (01-05-2022)“…Background Fabry disease (FD) is caused by a defect in α‐galactosidase A gene (GLA) which leads to a progressive accumulation of neutral shingolipids, mainly…”
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Renal sympathetic denervation in treating drug-resistant hypertension in a patient on hemodialysis
Published in Journal of hypertension (01-02-2016)“…A 26-year-old man had an end-stage renal disease because of a neurogenic urinary bladder with a vesicourinary reflux. The first kidney transplant was lost in…”
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Intravascular Renal Denervation in Renal Dialysis Patients with Uncontrolled Hypertension: A Case Series of Four Patients
Published in The American journal of case reports (21-08-2018)“…BACKGROUND Hypertension is a common complication of renal dialysis and is inadequately controlled in approximately one-third of patients. Intravascular renal…”
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Natural course of Fabry disease with the p. Arg227Ter (p.R227) mutation in Finland: Fast study
Published in Molecular genetics & genomic medicine (01-10-2019)“…Background Fabry disease is caused by a deficient or an absent alfa‐galactosidase A activity and is an X‐linked disorder that results in organ damage and a…”
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Cardiac Sarcoidosis: Epidemiology, Characteristics, and Outcome Over 25 Years in a Nationwide Study
Published in Circulation (New York, N.Y.) (17-02-2015)“…BACKGROUND—This study was designed to assess the epidemiology, characteristics, and outcome of cardiac sarcoidosis (CS) in Finland. METHODS AND RESULTS—We…”
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Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week
Published in Journal of the American College of Cardiology (23-02-2021)“…Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by deficient α-galactosidase A activity that leads to an accumulation of…”
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Incidence of Sudden Cardiac Death and Life-Threatening Arrhythmias in Clinically Manifest Cardiac Sarcoidosis With and Without Current Indications for an Implantable Cardioverter Defibrillator
Published in Circulation (New York, N.Y.) (27-09-2022)“…Cardiac sarcoidosis (CS) predisposes to sudden cardiac death (SCD). Guidelines for implantable cardioverter defibrillators (ICDs) in CS have been issued by the…”
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End-Stage Heart Failure in Cardiac Sarcoidosis
Published in Circulation (New York, N.Y.) (12-03-2024)Get full text
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Renal denervation in patients who do not respond to cardiac resynchronization therapy
Published in Scandinavian cardiovascular journal : SCJ (31-12-2022)“…Cardiac resynchronization therapy (CRT) reduces the morbidity and mortality in advanced heart failure (HF) in about two-thirds of the patients. Approximately…”
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30-Year Trends in the Incidence, Characteristics, and Outcome of Cardiac Sarcoidosis in a Nationwide Cohort
Published in JACC. Advances (Online) (01-08-2024)“…Cardiac sarcoidosis (CS) is a rare but potentially fatal inflammatory cardiomyopathy. The authors studied temporal changes in the incidence, characteristics,…”
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Outcome of Cardiac Sarcoidosis Presenting With High-Grade Atrioventricular Block
Published in Circulation. Arrhythmia and electrophysiology (01-08-2018)“…BACKGROUND:Symptomatic high-grade atrioventricular block (AVB) is the most common and often the only presenting manifestation (lone AVB) of cardiac…”
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The natural course of Fabry disease in a Finnish R227X cohort
Published in Molecular genetics and metabolism (01-02-2019)“…Fabry disease caused by a genetic deficiency of alfagalactosidase activity results in accumulation of glycosphingolipids especially in vascular endothelium…”
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Cardiac Involvement in Fabry Disease
Published in Journal of the American College of Cardiology (01-02-2021)Get full text
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Enzyme replacement therapy together with renin-angiotensin system inhibition seems to prevent kidney function decrease in most Finnish Fabry patients treated either for 5 or 10 years
Published in Molecular genetics and metabolism (01-02-2019)“…Enzyme replacement therapy (ERT) has stabilized renal function but its effect on proteinuria is inconsistent. Also nephroprotective…”
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Long-term effectiveness of enzyme replacement therapy in Fabry disease with the p. Arg227Ter (R227) mutation
Published in Molecular genetics and metabolism (01-02-2023)Get full text
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Aging Fabry disease patients
Published in Molecular genetics and metabolism (01-02-2024)Get full text
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