Search results for "MYOPATHY"
showing 10 items of 352 documents
Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle.
2002
Filamin C is the muscle isoform of a group of large actin-crosslinking proteins. On the one hand, filamin C is associated with the Z-disk of the myofibrillar apparatus and binds to myotilin; on the other hand, it interacts with the sarcoglycan complex at the sarcolemma. Filamin C may be involved in reorganizing the cytoskeleton in response to signalling events and in muscle it may, in addition, fulfill structural functions at the Z-disk. An examination of biopsies from patients with multi-minicore myopathy, central core myopathy and neurogenic target fibers with core-like target formations (TF) revealed strong reactivity of all the cores and target formations with two different anti-filamin…
Spheroid body myopathy revisited
1997
Having reported spheroid body myopathy from Indiana (IN) inherited in an autosomal-dominant fashion several years ago, we now describe additional findings from the Oregon branch—briefly recorded earlier—and confirm earlier studies in another clinically affected IN member of this kinship demonstrating identical spheroid bodies within the myopathic muscle specimens. The spheroid bodies also contained increased amounts of desmin, α-B crystallin, and ubiquitin within muscle fibers. Our studies now have established that spheroid body myopathy is a member of the growing family of desminopathic neuromuscular conditions. © 1997 John Wiley & Sons, Inc. Muscle Nerve20:1127–1136, 1997
Immunohistological analysis of sarcoid myopathy.
1995
In six cases of granulomatous myopathy immunohistological analysis showed a typical pattern with macrophages and T4 cells diffusely distributed throughout the cellular exudate. T8 lymphocytes were interspersed irregularly within the granulomatous cellular infiltrate early in granuloma maturation and in later stages predominantly confined to a lymphocytic mantle surrounding the granulomas. The cellular infiltrate displayed numerous activated HLA-DR and interleukin-2 receptor positive cells including cell proliferation. Increased connective tissue showed strong immunoreactivity for fibronectin and hyaluronate. Muscle fibres were negative for MHC class I molecules. Atrophic muscle fibres expre…
The eye in thyroid autoimmunity – Autoimmunité et œil lors de la maladie de Basedow
2014
Thyroid eye disease or thyroid-associated orbitopathy (TAO) is the commonest cause of orbital disease with an inflammatory component. With a basic knowledge of both orbital anatomy and the pathogenesis of TAO, it is easy to understand how its typical constellation of features originates. These features can be considered as primary or secondary. Primary features are those due directly to the disease process affecting a tissue e.g. restrictive myopathy. Secondary features occur due to the interaction of the affected tissue and the anatomical configuration of the tissues e.g. corneal ulceration or optic neuropathy, and are less likely to be florid at presentation. TAO is characterized by an im…
Nemaline myopathy with intranuclear rods--intranuclear rod myopathy.
1997
Among the different nosological forms of nemaline/rod myopathy, one morphological variant is marked by intranuclear rods in addition to sarcoplasmic rods. Such patients fall into two categories: firstly, adults and secondly, young infants suffering from the severe form. Intranuclear rods indicate unfavourable prognosis. Recently, intranuclear rods without sarcoplasmic rods have also been encountered. Intranuclear rods, largely solitary, are often found large in size with the ultrastructural lattice pattern of sarcoplasmic rods and Z-disks. They contain alpha-actinin and actin. The origin of intranuclear rods is still enigmatic. Their presence within nuclei without sarcoplasmic rods points t…
Primary desminopathies.
2007
• Introduction • Desmin is an essential component of the extrasarcomeric cytoskeleton in striated muscle cells • Distal myopathy,cardiac arrhythmias,cardiomyopathy:classical criteria of primary desminopathies • Sub-sarcolemmal and cytoplasmic desmin-positive protein aggregates:the morphological hallmark of primary and secondary desminopathies • The spectrum of pathogenic desmin gene mutations • The molecular pathogenesis of primary desminopathies: some answers gained,but even more questions raised • Diagnostic work-up to distinguish primary from secondary desminopathies • Treatment and clinical management of primary desminopathy patients Abstract Mutations of the human desmin gene o…
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…