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  • 1
    Electronic Resource
    Electronic Resource
    Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy (1999)
    [s.l.] : Nature America Inc.
    Nature genetics 23 (1999), S. 208-212 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Muscle contraction results from the force generated between the thin filament protein actin and the thick filament protein myosin, which causes the thick and thin muscle filaments to slide past each other. There are skeletal muscle, cardiac muscle, smooth muscle and non-muscle isoforms of both ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/13837
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  • 2
    Electronic Resource
    Electronic Resource
    Prophylactic Implantable Cardioverter Defibrillator Placement in a Sporadic Desmin Related Myopathy and Cardiomyopathy (2004)
    350 Main Street , Malden , MA 02148-5018 , USA and 9600 Garsington Road , Oxford OX4 2DQ , UK . : Blackwell Futura Publishing, Inc.
    Pacing and clinical electrophysiology 27 (2004), S. 0 
    Details
    ISSN: 1540-8159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Desminopathy is a neuromuscular disorder associated with the accumulation of the protein desmin. This article reports a case of a man with a mutation in the desmin gene suffering from cardiomyopathy and skeletal myopathy. This patient underwent implantable cardioverter defibrillator (ICD) implantation for prognostic considerations and subsequently developed a sustained ventricular tachycardia (SVT). While nonsustained VTs (NSVT) have previously been reported, this is the first time that a SVT could be seen in a patient with this disease. (PACE 2004; 27:559–560)
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1540-8159.2004.00484.x
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  • 3
    Electronic Resource
    Electronic Resource
    Immunohistochemistry of primary central nervous system malignant rhabdoid tumors: report of five cases and review of the literature (1996)
    Springer
    Acta neuropathologica 91 (1996), S. 578-586 
    Details
    ISSN: 1432-0533
    Keywords: Key words Malignant rhabdoid tumor ; Immunohistochemistry ; Central nervous system
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Malignant rhabdoid tumors (MRT) are characterized by a typical light microscopic morphology with uniformly round tumor cells, vacuolated cytoplasm with occasional round, hyaline intracytoplasmic, periodic acid-Schiff-positive inclusions, vesicular nuclei with prominent nucleoli and positive immunoreactivity for vimentin. The histogenesis of MRT is controversial. Five cases of primary central nervous system (CNS) rhabdoid tumors in children are presented. Immunohistochemical, light and electron microscopic features are compared with primary CNS malignant rhabdoid tumors reported in the literature. Expression of various neurofilaments in our cases of primary CNS rhabdoid tumors was prominent and we therefore favor a neural differentiation of extrarenal intracerebral rhabdoid tumors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010050470
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  • 4
    Electronic Resource
    Electronic Resource
    Experimental emetine myopathy: enzyme histochemical, electron microscopic, and immunomorphological studies (1993)
    Springer
    Acta neuropathologica 85 (1993), S. 414-418 
    Details
    ISSN: 1432-0533
    Keywords: Cytoplasmic body ; Desmin ; Emetine ; Ipecac myopathy ; Nemaline body
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Ipecac, containing emetine hydrochloride, is used by patients with anorexia nervosa to induce vomiting. Its chronic usage may result in a myopathy and a cardiomyopathy, the former marked by cytoplasmic bodies. We studied myopathological changes after daily injections of female Wistar rats with emetine hydrochloride intraperitoneally for periods of 4, 5, 9, and 10 weeks. the extensor digitorum longus muscle and the soleus muscle showed core-like lesions, streaming of the z-discs, nemaline bodies, cytoplasmic bodies, and spheroid cytoplasmic bodies. Immunomorphological studies revealed increased amounts of desmin. During a period of repair, i.e., 2, 4, and 6 weeks after termination of emetine application, these myopathological alterations faded while proliferation of the T-tubular system, i.e., honeycomb structures, was more often prevalent. Pathological features completely disappeared between 6 and 12 weeks of recovery.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00334453
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  • 5
    Electronic Resource
    Electronic Resource
    Hamartoma of the triceps surae muscle (1997)
    Springer
    Acta neuropathologica 94 (1997), S. 91-94 
    Details
    ISSN: 1432-0533
    Keywords: Key words Skeletal muscle ; Hamartoma ; Rhabdomyomas
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 9-year-old, otherwise healthy girl presented with a 5-year history of pain in her right calf with retarded growth and development of an equinus contracture of her right leg. Magnetic resonance imaging showed an irregular mass with heterogeneous enhancement after contrast in her right triceps surae muscles, especially the soleus. Histological studies of this triceps surae muscle tissue revealed a haphazard distribution of adipose and connective tissue, striated and smooth muscle cells, vessels and lymphoid follicles, as well as nerve bundles which, together, were considered components of a hamartoma.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010050677
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  • 6
    Electronic Resource
    Electronic Resource
    The protracted form of juvenile neuronal ceroid-lipofuscinosis (1976)
    Springer
    Acta neuropathologica 36 (1976), S. 393-396 
    Details
    ISSN: 1432-0533
    Keywords: Ceroid lipofuscinosis ; Juvenile or adult ; Protracted form ; Lipopigments ; Ultrastructure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Clinical and ultrastructural findings consisting of curvilinear and fingerprint residual bodies, in a protracted juvenile form of NCL are reported from a woman who died at the age of 35 years. Homochrony and homotypy of her brother's illness emphasize intrafamilial similarities within subgroups of lysosomal disorders.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00699645
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  • 7
    Electronic Resource
    Electronic Resource
    Studies on GM1-gangliosidosis, type II (1974)
    Springer
    Acta neuropathologica 30 (1974), S. 155-173 
    Details
    ISSN: 1432-0533
    Keywords: GM1-Gangliosidosis ; Glycoproteins ; β-Galactosidase ; Lysosomal Disease ; Electron Microscopy ; Genetics of GM1-Gangliosidosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Post-mortem studies on a 6-year old boy with GM1-gangliosidosis, Type II revealed no evidence of accumulation of residual bodies nor of gangliosides or glycoproteins in liver and spleen. In brain tissue the ganglioside GM1 accounted for 70% of the ganglioside fraction and ganglioside-NANA was increased 3.6 fold over controls. In addition, the brain tissue contained large amounts of glycoprotein, glycoprotein derived galactose being increased 2.5 times. The neuronal accumulation of tertiary lysosomes exhibited a characteristic distributional pattern: in general the large neuronal perikarya were more consistently involved with the exception of the motor cells of the cranial nerve nuclei, III, IV, and VI. In addition to characteristic MCB's, the nerve cells contained residual bodies with a granulo-floccular matrix, presumed to represent glycoproteins. The distribution of the mutant gene was studied among 30 blood relatives of the proband at risk and 6 carriers could be ascertained on the basis of a reduced leukocytic β-galactosidase activity. The partly purified enzyme from the patient's liver revealed 20% activity as compared to that of normal controls. All three fractions obtained by DEAE cellulose column chromatography exhibited markedly reduced activity at pH 3.6, but nearly normal activity at pH 6.6. The reduced activity corresponded to the B component of the enzyme as shown by electrophoretic separation. It is pointed out that this case cannot be diagnosed as “generalized gangliosidosis” for the process of ganglioside accumulation was restricted to nervous tissue.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00685440
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  • 8
    Electronic Resource
    Electronic Resource
    Ultrastructural observations on silver deposition in the choroid plexus of a patient with argyria (1973)
    Springer
    Acta neuropathologica 26 (1973), S. 247-251 
    Details
    ISSN: 1432-0533
    Keywords: Argyria ; Silver Deposition ; Choroid Plexus ; Silver Granules ; Electron Microscopy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A 72-year-old woman developed generalized argyria after prolonged intranasal application of a colloidal silver solution. The brain parenchyma, including several infarcts, was free of silver, but the choroid plexus showed silver deposited in the basal lamina, the stroma including calcified bodies, and occasionally within a mesenchymal cell of the choroid plexus stroma. The basal lamina beneath the choroidal epithelium was most affected. The silver granules appeared solid and free of any limiting membrane.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00684434
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  • 9
    Electronic Resource
    Electronic Resource
    Dense core mitochondria in peripheral ganglia of man (1976)
    Springer
    Acta neuropathologica 36 (1976), S. 85-90 
    Details
    ISSN: 1432-0533
    Keywords: Mitochondrial inclusions ; Mitochondria ; Peripheral ganglia ; Ultrastructure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Neuronal perikarya of peripheral ganglia contained unusual dense core mitochondria that were not seen in other cell types or tissues of the same individual. They were found in several patients autopsied with GM1-gangliosidosis and neuronal ceroid-lipofuscinosis. Previous observations on human sympathetic ganglia, obtained by biopsy, and our findings suggest that these dense core mitochondria might represent a rare but regular feature of neuronal perikarya in peripheral ganglia of man.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00685151
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  • 10
    Electronic Resource
    Electronic Resource
    Electrophysiological findings of neuronal ceroid lipofuscinosis in heterozygotes (1988)
    Springer
    Graefe's archive for clinical and experimental ophthalmology 226 (1988), S. 516-521 
    Details
    ISSN: 1435-702X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Nineteen obligate heterozygotes, 8 individuals at risk of being heterozygote, and 10 patients afflicted with four different forms of neuronal ceroid lipofuscinosis were examined electrophysiologically. The group of obligate heterozygotes was compared to age-matched control groups. Statistically significant differences were found between scotopic b-wave amplitudes, P-ERG amplitudes, and EOG light peaks of the obligate carriers of the juvenile type and the control subjects. The photopic L-ERGs and the latencies of the VEPs were mostly within the normal range. The findings represent the first evidence of functional ophthalmological changes in obligate carriers of neuronal ceroid lipofuscinosis and demonstrate that heterozygotes with certain hereditary autosomal recessive diseases may manifest subtle functional signs.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02169198
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