Search results for " cardiomyopathy."
showing 10 items of 151 documents
Oxidative Stress Markers in Hypertrophic Cardiomyopathy
2021
Background and Objectives: Hypertrophic cardiomyopathy (HCM) depends on the primary impairment of sarcomeres, but it can also be associated with secondary alterations in the heart related to oxidative stress. The present study aimed to examine oxidative-antioxidant disturbances in patients with HCM compared with control individuals. Materials and Methods: We enrolled 52 consecutive HCM patients and 97 controls without HCM. The groups were matched for age, body mass index, and sex. Peripheral blood was collected from all patients to determine the total antioxidant capacity (TAC), total oxidant status (TOS), lipid hydroperoxide (LPH), and malondialdehyde (MDA). The oxidative stress index (OSI…
Atrial natriuretic peptide and CD34 overexpression in human idiopathic dilated cardiomyopathies.
2007
Idiopathic dilated cardiomyopathy (IDCM) is a primary myocardial disease of unknown cause characterized by ventricular chamber enlargement with impaired contractile function. In familial forms of IDCM, mutations of genes coding for cytoskeletal proteins related to force transmission, such as dystrophin, cardiac actin, desmin, and delta-sarcoglycan, have been identified. Here, we report the data of a retrospective investigation carried out to evaluate the expression of atrial natriuretic peptide (ANP), CD34, troponin T and nestin in the myocardium of patients affected with IDCM. Formalin-fixed and paraffin-embedded consecutive tissue sections from the ventricular wall of 10 human normal hear…
Usefulness of DNA quantification in diagnosis of hypertrophic cardiomyopathies
2006
Hypertrophic cardiomyopathies (HCM) are a frequent cause of sudden death in both young people and adults. Different cardiomyopathies can be distinguished according to the etiological agent and, although there are morphological differences too, alterations in the quantity of DNA in the cardiomyocytes may play an important role in their pathogenesis and evolution. To understand the characteristics and the behaviour of the DNA index in hypertrophic cardiomyopathies, we have studied thirty cases (10 primaries or essential, 10 hypertensives and 10 toxic) and compared the results with those obtained for 10 macroscopically normal hearts. The results showed that the different cardiomyopathies were …
Broken heart, tako-tsubo or stress cardiomyopathy? Metaphors, meanings and their medical impact
2016
The cardiac impact of psychological stress historically and socially understood as boundary experiences of human life has long since become an icon. From the aching heart to the sudden death provoked by awe, horror, grief, anger, and humiliation on one side and extreme enchantment, enthusiasm, and excitement on the other, the broken heart has become a globally recognized and powerful metaphor present from folklore to popular culture to high literature and back to everyday communication. In medicine, the "broken heart syndrome" is described as a relatively new nosological entity that has been used synonymously with the term tako-tsubo or stress cardiomyopathy. Among those three terms, howeve…
0331 : Pathophysiology of the ubiquitine ligase E3, PDZRN3, in the development of dilated cardiomyopathies
2015
Dilated cardiomyopathy is a major cause of heart failure with a poor prognostic. Molecular mechanisms underlying the transition toward the dilated phenotype are still not known. In heart, individual cardiomyocytes connect some with the others via their extremities by junctional platform (Intercalated Discs, ID) crucial for the mechanical coupling and the anisotropic conduction of the electric signal. In this project, we are interested in an Ubiquitine ligase E3 called PDZRN3, which is expressed and regulated in cardiomyocytes during their maturation. We have previously identified PDZRN3 involvement in the the Wnt Planar Cell Polarity (Wnt/PCP) signaling in vascular morphogenesis. In the hea…
Two cases of tako-tsubo cardiomyophaty in Caucasians
2005
Tako-tsubo cardiomyopathy is a recently described disease characterized by chest pain, transient left ventricular dysfunction and specific electrocardiographic changes. The disease takes its name from the typical left apical ballooning observed at left ventriculogram. Tako-tsubo cardiomyopathy was first described by Sato in 1990. Since then sporadic cases were reported by Japanese authors, and only a few European publications are available. We describe 2 cases of patients affected by this syndrome.
Global, regional, and national levels and causes of maternal mortality during 1990-2013: A systematic analysis for the Global Burden of Disease Study…
2014
BACKGROUND: The fifth Millennium Development Goal (MDG 5) established the goal of a 75% reduction in the maternal mortality ratio (MMR; number of maternal deaths per 100,000 livebirths) between 1990 and 2015. We aimed to measure levels and track trends in maternal mortality, the key causes contributing to maternal death, and timing of maternal death with respect to delivery.METHODS: We used robust statistical methods including the Cause of Death Ensemble model (CODEm) to analyse a database of data for 7065 site-years and estimate the number of maternal deaths from all causes in 188 countries between 1990 and 2013. We estimated the number of pregnancy-related deaths caused by HIV on the basi…
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease
2021
AbstractLittle is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype is related to genotype. To accomplish this, we analyzed retrospectively data of 34 patients diagnosed after their first and before completion of their 18th birthday. Median age at diagnosis was 3.9 (range 1.1–17) years. Eight patients (23.5%) developed initial symptoms in the first year, 12 (35%) between 1 and 7 years, and 6 (18%) thereafter. Eight (23.5%) had no clinical symptoms at the time of diagnosis. Indications for diagnostics were a positive family histor…
Hypertrophic cardiomyopathy associated with polyarteritis nodosa: A case of sudden cardiac death
2018
This case concerns a rare sudden cardiac death characterized by macroscopic and microscopic postmortem findings of hypertrophic cardiomyopathy and polyarteritis nodosa. A complete autopsy was carried out, and histological and histochemical methods were employed. The cause of death was acute multifocal ischemic myocitolitic damage caused by both myocardial structural alteration attributable to hypertrophic cardiomyopathy (widespread interstitial fibrosis and multifocal myocyte disarray) and coronary arteritis attributable to polyarteritis nodosa. This is the first case in which the cause of death was attributed to both diseases.
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
2014
Background LMNA/C mutations have been linked to the premature aging syndrome Hutchinson’s progeria, dilated cardiomyopathy 1A, skeletal myopathies (such as the autosomal dominant variant of Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy), Charcot-Marie-Tooth disorder type 2B1, mandibuloacral dysplasia, autosomal dominant partial lipodystrophy, and axonal neuropathy. Atrioventricular block (AVB) can be associated with several cardiac disorders and it can also be a highly heritable, primitive disease. One of the most common pathologies associated with AVB is dilated cardiomyopathy (DCM), which is characterized by cardiac dilatation and reduced systolic function. In this …