Search results for " Sudden"
showing 10 items of 80 documents
Impaired Binding to Junctophilin-2 and Nanostructural Alteration in CPVT Mutation
2021
Rationale: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare disease, manifested by syncope or sudden death in children or young adults under stress conditions. Mutations in the Ca 2+ release channel/RyR2 (type 2 ryanodine receptor) gene account for about 60% of the identified mutations. Recently, we found and described a mutation in RyR2 N-terminal domain, RyR2 R420Q . Objective: To determine the arrhythmogenic mechanisms of this mutation. Methods and Results: Ventricular tachycardias under stress conditions were observed in both patients with catecholaminergic polymorphic ventricular tachycardia and knock-in mice. During action potential recording (by patch-clamp in …
KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern
2019
BACKGROUND: The presence of an early repolarization pattern (ERP) on the surface ECG is associated with risk of ventricular fibrillation and sudden cardiac death. Family studies have shown that ERP is a highly heritable trait, but molecular genetic determinants are unknown. METHODS: To identify genetic susceptibility loci for ERP, we performed a GWAS and meta-analysis in 2,181 cases and 23,641 controls of European ancestry. RESULTS: We identified a genome-wide significant (P < 5 × 10(–8)) locus in the potassium voltage-gated channel subfamily D member 3 (KCND3) gene that was successfully replicated in additional 1,124 cases and 12,510 controls. A subsequent joint meta-analysis of the discov…
Non-alcoholic fatty liver disease in adults 2021: A clinical practice guideline of the Italian Association for the Study of the Liver (AISF), the Ita…
2021
Nonalcoholic fatty liver disease (NAFLD) is a common and emerging liver disease in adults, paralleling the epidemic of obesity and diabetes, and leading to worrisome events (hepatocellular carcinoma and end-stage liver disease). In the last years, mounting evidence added insights about epidemiology, natural history, diagnosis and lifestyle-based or drug treatment of NAFLD. In this rapidly evolving scenario, members of the Associazione Italiana per lo Studio del Fegato (AISF), the Società Italiana di Diabetologia (SID) and the Società Italiana dell'Obesità (SIO) reviewed current knowledge on NAFLD. The quality of the published evidence is graded, and practical recommendations are made follow…
Immunohistochemical marker for Na+ CP type Vα (C-20) and heterozygous nonsense SCN5A mutation W822X in a sudden cardiac death induced by mild anaphyl…
2009
A sudden death likely due to mild anaphylactic reaction in a young man is described. Autoptic, histologic, immunohistochemical, and laboratory findings were strongly consistent with the diagnosis of a mild anaphylactic reaction. Genetic molecular analysis, performed on formalin-fixed, paraffin-embedded tissues, showed a mutation described as W822X in a family with electrocardiographic pattern typical of Brugada Syndrome. It results in a nonsense mutation generating a truncated form of the channel protein. The mutation is due to a point substitution of a guanine with an adenine residue (G2466A). Immunohistochemistry and laser scanning confocal microscopy on sections from heart formalin-fixed…
Chemoimmunotherapy with methotrexate, cytarabine, thiotepa, and rituximab (MATRix regimen) in patients with primary CNS lymphoma: results of the firs…
2016
BACKGROUND: Standard treatment for patients with primary CNS lymphoma remains to be defined. Active therapies are often associated with increased risk of haematological or neurological toxicity. In this trial, we addressed the tolerability and efficacy of adding rituximab with or without thiotepa to methotrexate-cytarabine combination therapy (the MATRix regimen), followed by a second randomisation comparing consolidation with whole-brain radiotherapy or autologous stem cell transplantation in patients with primary CNS lymphoma. We report the results of the first randomisation in this Article.METHODS: For the international randomised phase 2 International Extranodal Lymphoma Study Group-32 …
Myocardial infarction following convulsive and nonconvulsive seizures
2009
Abstract Myocardial infarction (MI) has been rarely reported in association with seizures, and only of convulsive type. Methods We describe a series of five patients observed over a 4-year period, who presented MI immediately following seizures, either convulsive or nonconvulsive. Results Patient 1 had pre-existent coronary disease (CD) and presented multiple focal nonconvulsive seizures. Patient 2 had no CD, normal coronary angiography and presented secondary generalized convulsive seizures. Patient 3 had no history of CD, normal angiography and had a first single convulsive seizure. Patient 4 had severe CD and suffered from a single convulsive event. Patient 5 had a partial and a generali…
Relative peak exercise oxygen pulse is related to sudden cardiac death, cardiovascular and all-cause mortality in middle-aged men
2018
Background Preliminary evidence suggests that peak exercise oxygen pulse – peak oxygen uptake/heart rate-, a variable obtained during maximal cardiopulmonary exercise testing and a surrogate of stroke volume, is a predictor of mortality. We aimed to assess the associations of peak exercise oxygen pulse with sudden cardiac death, fatal coronary heart disease and cardiovascular disease and all-cause mortality. Design A prospective study. Methods Peak exercise oxygen pulse was assessed in a maximal cycling test at baseline in 2227 middle-aged men of the Kuopio Ischaemic Heart Disease cohort study using expired gas variables and electrocardiograms. Relative peak exercise oxygen pulse was obtain…
Essay: Does training adversely affect long-term health?
2005
A number of philosophers and physicians living in ancient Greece thought that sport could harm both mind and body. Hippocrates, for example, acknowledged the health benefits of physical activity, but also believed that intense athletic competition had a harmful effect on the heart and other organs, and lowered resistance to disease. That athletes do not have a shorter life expectancy than the general population, however, was not appreciated until the 19th century. In 1873, J E Morgan published the results of his study of 294 British oarsmen who participated in the Oxford versus Cambridge boat races between 1829 and 1869. His findings indicated that these sportsmen lived about 2 years longer…
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion.
2020
Crisponi syndrome/CISS1, is an autosomal recessive ciliary neurotrophic factor receptor (CNTFR)-related genodermatosis caused in 95% of cases by mutations in CRLF1 on chromosome 19p13. The CNTFR pathway is important for CNS development. Crisponi syndrome/ CISS1 can be suspected in the presence of the following clinical triad: camptodactyly with fisted hands, intermittent hyperthermia and muscular contractions with feeding difficulties.
Immunohistochemical study on dystrophin expression in CAD-related sudden cardiac death: a marker of early myocardial ischaemia
2018
The aims of this study were to assess if dystrophin can be a tool for the forensic evaluation of sudden cardiac death due to coronary atherosclerotic disease (CAD) and particularly if it can be a marker of early myocardial ischaemia. Then in this investigation, the dystrophin was compared to C5b-9 and fibronectin to analyze if there are some differences in the expression of these proteins. Two groups of CAD-related sudden cardiac death, respectively the group 1 with gross and/or histological evidence and the group 2 with no specific histological signs of myocardial ischaemia were used. A third group formed by cases of acute mechanical asphyxiation was used as a control. The immunohistochemi…