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  • 1
    ISSN: 1432-0533
    Keywords: Isoniazid neuropathy ; Axonal degeneration ; Endoneurial edema ; Axonal swelling ; Dying back
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Morphometric studies of the pathologic changes were carried out on the peripheral nerves, spinal roots, and different levels of the Goll's tract in rats given isoniazid and killed 1, 2, 3, 4, 5, 6, 7, 14, and 30 days after intoxication. In teased fiber preparations, axonal degeneration was the main change present, and this was seen as early as day 2 in the peroneal and distal sural nerves. The frequency of myelinated fibers showing axonal degeneration was higher in the distal than the proximal sural nerve, and in the ventral than the dorsal root. In the group of rats killed on 5, 6, 7, and 14 days, a significant decrease of the myelinated fiber density was observed in the distal and proximal sural nerves, ventral root, and at the third cervical level of the Goll's tract. The degree of fiber degeneration was more severe in the distal than in the proximal sural nerve and in the third cervical than the fifth thoracic levels of the Goll's tract. Preferential decrease of large myelinated fibers was noted in all the affected nerves. No definite abnormalities, however, were seen in nerve cells of the 6th lumbar spinal ganglia and anterior horn cells of the lumbar spinal cord on light microscopy. On 30 days, regeneration at varying degrees was discerned in all the affected nerves with significant increase of small myelinated fibers, particularly in the ventral root. The findings indicate that both centrally and peripherally directed myelinated axons are more affected in the distal than in the proximal segments while the neuronal cell bodies are spatio-temporal evolution of this pattern of change is compatible with the concept of the “dying back” process or centralperipheral distal axonopathy.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-0533
    Keywords: Subacute spongiform encephalopathy ; Creutzfeldt-Jakob disease ; Experimental transmission ; Small rodents ; Transmissible agent
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Further experimental transmission of Creutzfeldt-Jakob disease (CJD) from three patients to mice and rats was carried out successfully. The clinical signs and pathologic features of spongiform encephalopathy transmitted to animals were much the same as in previous experiments, except that distribution of the lesions in the mice differed with each inoculated material taken from the patients. These observations suggest the multiplicity of CJD agents, as in the case of scrapie agents.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 141 (1984), S. 240-242 
    ISSN: 1432-1076
    Keywords: Lysinuric protein intolerance ; Growth hormone
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Our two patients with lysinuric protein intolerance, a 14-year-old boy and his 12-year-old sister, showed growth retardation and their bone ages were retarded. Growth hormone secretion responded to glucagon-propranolol and showed a good response to arginine. However, growth hormone showed little response to insulin. After the oral administration of arginine hydrochloride, growth hormone showed a good response to insulin and glucagon-propranolol, and gain in height and weight accelerated. This result may suggest that an adequate supply of arginine is effective in improving the growth retardation in lysinuric protein intolerance.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-0738
    Keywords: Fenitrothion ; Fenitrooxon ; Acute toxicity ; Phenobarbital ; Adrenalectomy ; Diethyl maleate
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The effect of adrenalectomy (Adx), SKF 525-A, phenobarbital (PB), and diethyl maleate (DEM) on the acute toxicity of fenitrothion was investigated in male rats by assessing the degree of plasma cholinesterase activity. PB, 60 mg/kg/day for 3 days, exerted no protective effect on the toxicity of fenitrothion (100 mg/kg, p.o.) given 24 h after the last injection. In adrenalectomized and SKF 525-A-pretreated rats, the toxicity of fenitrothion was lower than that of the controls. Fenitrothion toxicity was increased by administration of DEM (1 ml/kg), which depletes hepatic glutathione (GSH) levels. In vitro, the rates of fenitrothion decomposition and fenitrooxon formation by microsomes were markedly affected by PB, SKF 525-A and Adx. The decomposition of fenitrooxon by the microsomal fraction and GSH-dependent decomposition of fenitrooxon by the soluble fraction were not affected by PB, SKF 525-A and Adx pretreatment. The GSH-dependent decomposition of fenitrothion and fenitrooxon was increased by addition of GSH to the incubation mixture. The present results indicate that the GSH-dependent metabolic pathway plays an important role in the detoxication of fenitrothion.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1459
    Keywords: Adrenoleukodystrophy ; Adrenomyeloneuropathy ; Fatty acids ; High-performance liquid chromatography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Mittels Hochleistungs-Flüssigkeitschromatographie wurden durch Analyse der Fettsäuren in Sphingomyelien Adrenoleukodystrophien und Adrenomyeloneuropathien untersucht. Die oben erwähnte analytische Methode erwies sich als einfach, empfindlich und exakt. Bei der Adrenoleukodystrophie und bei Patienten mit Adrenomyeloneuropathie wurden sehr lange Fettsäureketten (C26:0, C25:0 und C24:0 auf der Basis von C22:0) sowohl in Plasma und den Erythrozytenmembranen als auch in Gesamtblutproben als vermehrt erkannt. Auch in Kulturen von Hautfibroblasten von Sphingomyelien wurde eine Zunahme der langkettigen Fettsäuren nachgewiesen. In einem Fall eines heterozygoten Adrenoleukodystrophiepatienten wurden Werte die zwischen jenen der homozygoten und der Kontrollfälle lagen gefunden. Somit ist die Hochleistungs-Flüssigkeitschromatographie eine brauchbare Methode, um eine Zunahme langkettiger Fettsäuren zwecks Diagnose einer Adrenoleukodystrophie oder einer Adrenomyeloneuropathie festzustellen.
    Notes: Summary Using high-performance liquid chromatography, adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) were diagnosed by the analysis of fatty acids in sphingomyelin. The analytical method was simple, sensitive and accurate. In ALD and AMN patients, very long chain fatty acids (C26:0, C25:0 and C24:0 on the base of C22:0) were elevated not only in plasma and erythrocyte membranes but also in whole blood samples. An increase of long chain fatty acids was also shown in sphingomyelin of cultured skin fibroblasts. One heterozygote for ALD showed intermediate values between homozygotes and controls. Thus, high-performance liquid chromatography is a valuable method to detect increased long chain fatty acids for the diagnosis of ALD or AMN.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Journal of neurology 226 (1981), S. 143-148 
    ISSN: 1432-1459
    Keywords: Rigid spine syndrome ; Myopathy ; Joint contracture
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Ein Fall einer sporadischen Form der Myopathien mit frühzeitigen Kontrakturen, „rigid spine syndrome“ wurde bemerkt. Der Erkrankungsbeginn lag bei dem männlichen Patient ohne Familiengeschichte in der ersten Lebensdekade. Das charakteristische Krankheitsbild besteht aus der Hemmung der Flexion des Halses und der Rumpfbewegung, den Gelenkkontrakturen, der Normalintelligenz und dem Fehlen von Herzrhythmusstörungen mit relativ langsamer Progression der Muskelschwächen und-atrophien. Die elektromyographischen und histologisch-enzymhistochemischen Untersuchungen zeigten einen myopathischen Krankheitsprozeß an. Die Aktivität der Serum-CPK war erhöht. Die klinische Symptomatik der Form „rigid spine syndrome“ erlaubt eine sichere differentialdiagnostische Abgrenzung von anderen Myopathien, aber die Form „rigid spine syndrome“ konnte durch die enzymhistochemische und ultrastrukturelle Untersuchung nicht charakterisiert werden.
    Notes: Summary A case is described with the characteristic clinical features of rigid spine syndrome: childhood onset in a male, very slowly progressive weakness and muscle atrophy, limitation of neck and trunk flexion, joint contractures, normal intelligence, no clear family history, increased serum CPK levels and myopathic patterns in EMG and muscle biopsy specimens. Myopathic patterns with various histological changes in muscle biopsy specimens were seen in all eight reported cases of the rigid spine syndrome, but there are no characteristic histological findings in the rigid spine syndrome.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Journal of neurology 228 (1982), S. 143-146 
    ISSN: 1432-1459
    Keywords: Computed tomography ; Cerebral demyelinating disease ; Blood-brain barrier ; Hemiparesis ; Contrast enhancement
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Eine 23jährige Frau mit progressiver Evolution einer rechten Hemiparese, gefolgt von spontaner klinischer Remission, wurde vorgeführt. Das klinische Profil sowie mehrfokale kontraststeigernde CT-Läsionen in der periventrikulären Region des Cerebrums begünstigten einen akuten Entmyelisierungsprozeß. Reihenmäßige CT-Untersuchungen zeigten eine Resolution der CT-Abnormitäten. Die rechte interne Karotid-Angiographie ergab eine prominente Sichtbarmachung der tiefabführenden medullären Venen mit teilchenförmigen Flecken. Die angiographischen Ergebnisse deuten vielleicht auf eine vaskuläre Beteiligung am Entmyelisierungsprozeß.
    Notes: Summary A 23-year-old woman had progressive right hemiparesis followed by spontaneous clinical remission. The clinical profile and multifocal contrast-enhancing CT lesions in the periventricular region of the cerebrum favored the diagnosis of an acute demyelinating process. Serial examinations showed resolution of CT abnormalities. Right internal carotid angiography showed prominent deep draining medullary veins with fleck-like stains. The angiographic appearances might reflect vascular involvement in the demyelinating process.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-1459
    Keywords: Muscle atrophy, neurogenic ; β-Galactosidase deficiency ; β-Glucuronidase deficiency ; Dermatan sulfate ; Mucopolysaccharidosis ; Marfan syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Bei einem 18jährigen Jüngling hatten sich im Verlauf der Kindheit eine zunehmende geistige Retardierung, eine neurogene Muskelatrophie mit Hyperreflexie, Marfan-artige Besonderheiten und multiple Dysplasien der Epiphysen entwickelt. Im Harn fand sich eine vermehrte Ausscheidung von Dermatansulfat. Es wurde eine verminderte Aktivität lysosomaler Enzyme nachgewiesen, nämlich von β-Galactosidase, β-Glucuronidase und N-acetyl-β-d-Glucosaminidase.
    Notes: Summary An 18-year-old boy showed childhood onset of mental retardation, neurogenic muscle atrophy with hyperreflexia, Marfan-like features, multiple epiphyseal dysplasia, increased urinary excretion of dermatan sulfate, and decreased lysosomal enzyme activities in β-galactosidase, β-glucuronidase, and N-acetyl-β-d-glucosaminidase. This case may be a new syndrome, the combination of neurogenic muscle atrophy with lysosomal enzyme deficiencies.
    Type of Medium: Electronic Resource
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