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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 68 (1985), S. 155-159 
    ISSN: 1432-0533
    Keywords: Hamartoma ; Heterotopia ; Hydrocephalus ; Aqueduct stenosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A 35-day-old hydrocephalic infant was found by autopsy to have a small nodular mass protruding into the aqueductal channel. The mass, approximately 2.5 mm in size along the neuroaxis and 1.9 mm in transverse plane, subependymally occupied the roof of the aqueduct. This was thought to be the cause of hydrocephalus in this infant. A review of literature on the subject has not shown any other comparable case.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-0533
    Keywords: Mitochondrial myopathy ; Cytochrome c oxidase ; Mosaicism of mitochondria ; Electron microscopic histochemistry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Electron microscopic histochemistry was applied to the study of cytochrome c oxidase activity in each mitochondrion of biopsied muscles from four patients with mitochondrial myopathy [one case of fatal infantile mitochondrial myopathy, one case of myoclonus epilepsy associated with ragged-red fibers (MERRF), and two cases of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)]. In the patient with fatal infantile mitochondrial myopathy, intercellular heterogeneity of mitochondria was recognized. In the three patients with either MERRF or MELAS, cytochrome c oxidase activity was segmentally changed from positive to negative within single muscle fibers. In the two patients with MELAS, small groups of positive-stained mitochondria were located among negative-stained mitochondria in the negative segment of a few muscle fibers. These findings revealed that there were heterogeneous populations of normal and abnormal mitochondria intracellularly or intercellularly within the muscles of these patients.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-0533
    Keywords: Mitochondrial myopathy ; Cytochrome c oxidase deficiency ; Immunoelectron microscopy ; In situ hybridization
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The levels of mitochondrial electron transport system proteins cytochrome c oxidase (COX) and complex III were measured in muscle fibers of patients with mitochondrial encephalomyopathy using quantitative immunoelectron microscopy. In a patient with Leigh's encephalopathy, immunoreactive COX protein was decreased to 20% of the normal mean value in all muscle fibers examined, while the amount of complex III was within the normal range. In a patient with fatal infantile COX deficiency, the level of COX protein was found to be decreased to 27–40% of the normal value in all muscle fibers examined. In patients with mitochondrial myopathy, encephalopathy, lactic acidosis associated with stroke-like episodes (MELAS) and chronic progressive external ophthalmoplegia (CPEO), COX protein levels were decreased to 20% of normal in muscle fibers lacking COX activity. In normal fibers, however, COX protein levels were also normal. The amount of complex III protein was normal in COX-deficient muscle fibers. In two patients, in situ hybridization was performed for detection of mitochondrial mRNA. Mitochondrial mRNAs were found to be abundant in muscle fibers with decreased COX protein, suggesting a defect at the mitochondrial protein-synthesis level in a COX-deficient muscle fiber.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 143 (1985), S. 278-283 
    ISSN: 1432-1076
    Keywords: Lactic acidosis ; Pyruvate decarboxylase deficiency ; Subacute necrotizing encephalomyelopathy ; Cytochrome c oxidase deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An enzymatic study of cultured skin fibroblasts was made in 28 patients with lactic acidosis. In three of these patients a diagnosis of Leigh's encephalomyelopathy was established from autopsy findings. Pyruvate decarboxylase (PDC) deficiency was found in four patients. In two of them, in whom Leigh's encephalomyelopathy was proved by autopsy, PDC activity was lower than 10% of the normal. The other two living patients, who showed 22%–25% of the normal activity, had clinical symptoms and courses different from Leigh's disease. These findings suggest that the patients with severe PDC deficiency develop Leigh's disease but those with mild deficiency may not. A deficiency of cytochrome c oxidase was found in two siblings. One of them, who was diagnosed as having Leigh's encephalomyelopathy by postmortem examination, showed a reduction of cytochrome c oxidase in the liver and brain. In the other sibling, who is living, the reduction of cytochrome c oxidase was demonstrated in the cultured skin fibroblasts and biopsied muscle. In an electron-microscopic study of biopsied muscle, two patients with mitochondrial myopathy were found. Their fundamental enzymatic defects were unclear. In two patients, in whom Leigh's disease was suspected following a brain CT, the production of 14CO2 from [3-14C] pyruvate was found to be low; suggesting a reduced activity of the TCA cycle. In another 18 patients, the fundamental defect was not clear.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1076
    Keywords: Subacute sclerosing panencephalitis ; Positron emission CT ; Glucose metabolism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Regional cerebral metabolic rates for glucose (rCMRglc) were measured in two cases of subacute sclerosing panencephalitis (SSPE) with different clinical courses. A marked decrease in rCMRglc was found in the cortical gray matter of a patient with rapidly developing SSPE (3.6–4.2 mg/100 g brain tissue per min). However, the rCMRglc was preserved in the caudate and lenticular nuclei of the patient (7.7 mg/100 g per min). The rCMRglc in a patient with slowly developing SSPE revealed patterns and values similar to those of the control. The rCMRglc correlated better with the neurological and psychological status of SSPE.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 148 (1988), S. 267-269 
    ISSN: 1432-1076
    Keywords: Valproic acid ; Hyperammonaemia ; Aminoacidaemia ; Mitochondrial dysfunction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Serum amino acid pattern, blood ammonia, and serum valproic acid (VPA) levels were estimated in 75 epileptic children with and without VPA therapy. The incidence of patients with hyperammonaemia (〉60 μmol/l) in patients treated with only VPA or with a combination of VPA and other antiepileptic drugs was 19% and 20% respectively. Hyperammonaemia was not observed in patients receiving other drugs. Elevated levels of serum glycine, alanine and serine were more common in epileptic patients treated with VPA alone and with VPA in combination with other drugs than in patients receiving other drugs. A significant positive correlation was found between the serum levels of glycine and alanine, of glycine and serine, and of serine and alanine. These findings may indicate a mitochondrial dysfunction caused by VPA.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    College Park, Md. : American Institute of Physics (AIP)
    The Journal of Chemical Physics 89 (1988), S. 7035-7036 
    ISSN: 1089-7690
    Source: AIP Digital Archive
    Topics: Physics , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    College Park, Md. : American Institute of Physics (AIP)
    The Journal of Chemical Physics 88 (1988), S. 3253-3259 
    ISSN: 1089-7690
    Source: AIP Digital Archive
    Topics: Physics , Chemistry and Pharmacology
    Notes: The mobilities of the singly clustered ions of Li+ with constituent gases have been measured with a conventional drift tube over the E/N range 8–89 Td in N2, 10–25 Td in O2, 10–139 Td in CO, 50–348 Td in CO2, and 40–80 Td in CH4. Two methods were employed to determine the mobilities; one was a difference method and the other was based on the pressure dependence of apparent mobilities. It is found that the mobilities of each cluster ion species remain constant over most of the E/N range used and the zero-field values are 1.87±0.07 for Li+(N2)–N2 at 303 K, 1.89±0.11 for Li+(O2)–O2 at 303 K, 1.70±0.06 for Li+(CO)–CO at 303 K, 0.92±0.04 for Li+(CO2)–CO2 at 303 K, and 2.22±0.08 cm2/V s for Li+(CH4)–CH4 at 302 K, respectively. The zero-field mobilities of these polyatomic ions considerably deviate from the values of the Langevin polarization limit. They are predicted with moderate accuracy by assuming a hard sphere-r−4 potential which takes a repulsive core size into account.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    College Park, Md. : American Institute of Physics (AIP)
    The Journal of Chemical Physics 87 (1987), S. 6520-6529 
    ISSN: 1089-7690
    Source: AIP Digital Archive
    Topics: Physics , Chemistry and Pharmacology
    Notes: The transport coefficients for Li+ ions in some moleculars gases have been measured over a wide range of E/N with a conventional drift tube at temperatures close to 300 K. The zero-field reduced mobilities are found to be 3.91±0.11, 4.44±0.12, 3.64±0.10, 2.46±0.07, and 3.44±0.10 cm2/V s in N2, O2, CO, CO2, and CH4 gas, respectively, and these values except in O2 gas significantly deviate from the Langevin limit. In N2, CO, and CO2 gas, the resulting mobility curves show clear minima at intermediate E/N, but the depressions in O2 and CH4 gas are slight. The drop of the zero-field values in N2, CO, and CO2 gas is explained in terms of an effective ion–quadrupole interaction which provides the r−6 attractive behavior. From the mobility calculations with using n−4–6(γ) potential, it is suggested that the depression of the mobility curve is developed by the addition of a sufficient r−6 term and is partly attributed to inelastic collisions as expected even at intermediate E/N. The experimental diffusion data are compared with the values derived from the generalized Einstein relation. For all systems, the agreement is quite good at intermediate E/N, but there are large discrepancies at other E/N. The sources of the deviation are considered to be clustering reactions and inelastic collisions at low and high field, respectively.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochemical and Biophysical Research Communications 96 (1980), S. 863-869 
    ISSN: 0006-291X
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
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