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  • 1
    Electronic Resource
    Electronic Resource
    Histochemische Enzymnachweise in den neurosekretorischen Kernen der Ratte (1968)
    Springer
    Acta neuropathologica 10 (1968), S. 91-94 
    Details
    ISSN: 1432-0533
    Keywords: Neurosecretory nuclei ; Histochemistry ; Hydrolytic and oxydative enzymes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung An den Gehirnen von 36 weiblichen Ratten wurden die Enzyme Cytochromoxydase, Lactat-, Succinodehydrogenase, DPNH- und TPNH-Diaphose, sowie β-Glucuronidase, β-Galactosidase, β-Glucosidase und Arylsulfatase in den neurosekretorischen Kernen untersucht. SDH und CyO zeigten eine niedrige Aktivität, während LDH, DPNH-Di und TPNH-Di deutlich nachweibsar waren. Die Reaktionen beim Glykosidennachweis fielen nur schwach aus, ein sicherer Nachweis der Arylsulfatase gelang nicht.
    Notes: Summary The enzymes cytochromoxydase, lactic-, succino-dehydrogenase, DPNH- and TPNH-diaphorase as well as β-glucuronidase, β-galactoidases, β-glucosidase and arylsulfatase were analysed in the paraventricular and supraoptic nucleus of the brains of 36 female rats. SDH and CyO showed a lower activity while LDH, DPNH-di and TPNH-di could be proved distinctly. On proving glycosidases the reactions were only moderate. A certain proof of arylsulfatase could not be furnished.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00690514
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  • 2
    Electronic Resource
    Electronic Resource
    Anoxic encephalopathy with predominant involvement of basal ganglia, brain stem and spinal cord in the perinatal period (1975)
    Springer
    Acta neuropathologica 32 (1975), S. 287-298 
    Details
    ISSN: 1432-0533
    Keywords: Asphyxia ; Circulatory arrest ; Tegmental necrosis ; Spinal cord ; Perinatal period
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary This study reports subcortical lesions in 7 newborn babies after transient circulatory arrest and/or asphyxia. Basal ganglia, diencephalon, tegmentum of the brain stem and spinal grey matter exhibited extensive necroses in a columnar pattern. The lesions of the telencephalic and cerebellar cortex are less prominent. The spinal cord, available in 3 children, revealed subtotal neuronal loss in all segments. The lesions represent the extreme anoxic damage of the CNS in the perinatal period, comparable with brain death in the adulthood. Moreover, the pattern with predominating subcortical lesions indicates that anoxia affects the grey matter in all levels of the CNS.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00696791
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  • 3
    Electronic Resource
    Electronic Resource
    Nachweis und Verteilung der Enzyme: β-d-Glucuronidase, β-d-Galaktosidase, β-d-Glucosidase und Arylsulfatase in Neurinomen (1969)
    Springer
    Acta neuropathologica 12 (1969), S. 189-194 
    Details
    ISSN: 1432-0533
    Keywords: Neurinomas ; Hydrolytic Enzymes ; Hydrolases ; Lipid Deposition ; Myelin Lipids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung In 17 Neurinomen wurden Verteilung und Aktivität der hydrolytischen Enzyme β-d-Glucuronidase, β-d-Glucosidase, β-d-Galaktosidase und Arylsulfatase untersucht. Die höchste Aktivität der Enzyme zeigten die verfetteten Neurinome. Es bestand eine enge Beziehung zwischen Lipidablagerung und Fermentaktivität. Daraus wurde geschlossen, daß die im Neurinom gebildeten Markscheidenlipide unter Mitwirkung der untersuchten Hydrolasen abgebaut werden.
    Notes: Summary In 17 neurinomas, distribution and activity of the hydrolytic enzymes β-d-glucuronidase, β-d-glucosidase, β-d-galactosidase, and arylsulfatase were examined. Highest enzyme activity was seen in neurinomas stuffed with lipid material. There was close relationship between lipid deposition and enzyme activity. From these findings it was concluded that myelin lipids formed in neurinomas are degradated by means of the examined hydrolases.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00692506
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  • 4
    Electronic Resource
    Electronic Resource
    Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 194-197 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Adrenoleukodystrophy (ALD), an X-linked inherited metabolic disorder, is the most frequent inborn peroxisomal disease. It leads to demyelination in the central and peripheral nervous system. Defective β-oxidation of saturated very long chain fatty acids (VLCFAs; C22:0–C26:0) in peroxisomes has been shown to lead to an accumulation of VLCFAs in leukoid areas of the central nervous system, peripheral nerves, adrenal gland, and blood. The ALD gene has been recently identified and encodes a 745-amino-acid protein. We screened patients with adrenoleukodystrophy/adrenomyeloneuropathy (ALD/AMN) from 20 kindreds for mutations in the ALD gene. Eleven missense and two nonsense mutations, five deletions, and one insertion were detected by direct sequencing of eight reverse transcribed fragments of the ALD-gene mRNA. Four mutations could be shown to be de novo. All mutations could be confirmed in carriers by sequencing genomic DNA. No correlation between the type of mutation and the severity of the phenotype could be observed. The mutations were not detected in the ALD gene of 30 healthy persons.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02265264
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  • 5
    Electronic Resource
    Electronic Resource
    Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 194-197 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Adrenoleukodystrophy (ALD), an X-linked inherited metabolic disorder, is the most frequent inborn peroxisomal disease. It leads to demyelination in the central and peripheral nervous system. Defective β-oxidation of saturated very long chain fatty acids (VLCFAs; C22:0–C26:0) in peroxisomes has been shown to lead to an accumulation of VLCFAs in leukoid areas of the central nervous system, peripheral nerves, adrenal gland, and blood. The ALD gene has been recently identified and encodes a 745-amino-acid protein. We screened patients with adrenoleukodystrophy/adrenomyeloneuropathy (ALD/ AMN) from 20 kindreds for mutations in the ALD gene. Eleven missense and two nonsense mutations, five deletions, and one insertion were detected by direct sequencing of eight reverse transcribed fragments of the ALD-gene mRNA. Four mutations could be shown to be de novo. All mutations could be confirmed in carriers by sequencing genomic DNA. No correlation between the type of mutation and the severity of the phenotype could be observed. The mutations were not detected in the ALD gene of 30 healthy persons.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02265264
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  • 6
    Electronic Resource
    Electronic Resource
    Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies (1990)
    Springer
    European journal of pediatrics 150 (1990), S. 104-108 
    Details
    ISSN: 1432-1076
    Keywords: Reduced nicotinamide adenine dinucleotide (NADH) dehydrogenase ; Respiratory chain ; Mitochondrial myopathies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe eight children with complex I deficiency, four of them with an isolated, the other four with an additional deficiency of complex IV. Clinical, chemical and morphological findings were compared from patients with isolated and combined deficiency. In both groups, the age of onset of symptoms was between the 1st day and the 4th month of life. Clinical and biochemical heterogeneity were observed. We found no correlation between residual activity of complex I in muscle, blood lactate level, and severity of clinical symptoms. Newborns presenting with severe lactic acidosis and children with later onset myopathy were seen in both groups. The group with combined complex I deficiency showed a more severe clinical course. By light microscopy ragged red fibres were only found in two patients with combined deficiency. However, by electron microscopy structural alterations of the mitochondria were observed in six out of seven muscle specimens.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02072049
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  • 7
    Electronic Resource
    Electronic Resource
    Simultaneous measurement, using flow cytometry, of radiosensitivity and defective mitogen response in ataxia telangiectasia and related syndromes (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 756-760 
    Details
    ISSN: 1432-1076
    Keywords: Ataxia telangiectasia ; Radiosensitivity ; Immunodeficiency ; Flow cytometry ; Cell cycle
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In a retrospective study, peripheral blood mononuclear cells from 13 patients with known ataxia telangiectasia (AT) (Louis Bar syndrome, McKusick #20890) were irradiated with different doses of X-rays prior to stimulation with phytohaemagglutinin. Mitogen response and cell cycle progression were assessed by two-parameter 5-bromo-2′-deoxyuridine/Hoechst — ethidium bromide flow cytometry. Compared to age-matched controls, AT cells show a severely defective mitogen response in both unirradiated and irradiated cells. Following irradiation with 1.5 Gy, AT cells exhibit significantly greater accumulations of cells in the G2 phase of the first cell cycle than controls. The ratio between the number of cells accumulated in the first cycle G2 phase and the growth fraction provides a clear distinction between AT and control cultures. In addition, two patients with microcephaly, normal intelligence, immunodeficiency, chromosomal instability and risk for lymphoreticular malignancies (Seemanová syndrome) and two patients with the Nijmegen breakage syndrome (both syndromes are listed as McKusick #25126) also exhibit very poor mitogen response and moderately increased G2 phase accumulations after X-irradiation. The simultaneous assessment of radiosensitivity and mitogen response in a single cell kinetic assay provides a speedy and accurate classification of cells of AT and AT-related syndromes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01959085
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  • 8
    Electronic Resource
    Electronic Resource
    Evaluation of the polymerase chain reaction for the detection ofBorrelia burgdorferi in cerebrospinal fluid of children with acute peripheral facial palsy (1995)
    Springer
    European journal of pediatrics 154 (1995), S. 374-377 
    Details
    ISSN: 1432-1076
    Keywords: Lyme borreliosis ; Facial palsy ; Borrelia burgdorferi ; Polymerase chain reaction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Neuroborreliosis occasionally represents a diagnostic problem, especially in the early stage of the infection. The polymerase chain reaction (PCR) offers an attractive alternative to antibody testing. The aim of our study was to investigate the diagnostic potential of PCR in comparison to antibody tests in CSF of children with facial palsy. In contrast to other manifestations of neuroborreliosis, facial palsy is a welldefined clinical entity in which CSF findings allow an early distinction according to aetiology. The study included 17 children with neuroborreliosis, defined by the detection of specific IgM antibodies in CSF, and 20 children with facial palsy of unknown cause. Primers used for the nested PCR were generated from conserved sequences of the OspA-gene. Most of the cases in both subgroups have been examined within a few days after the onset of the paresis. Only in 2 out of 17 cases with neuroborreliosis could specific DNA be amplified. The PCR gave negative results in all cases of the control group. Conclusion The IgM capture ELISA is superior to PCR to support the clinical diagnosis of neuroborreliosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02072106
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  • 9
    Electronic Resource
    Electronic Resource
    Encephalitis in two members of a family with Incontinentia pigmenti (Bloch-Sulzberger syndrome) (1978)
    Springer
    European journal of pediatrics 129 (1978), S. 103-115 
    Details
    ISSN: 1432-1076
    Keywords: Incontinentia pigmenti ; Bloch-Sulzberger syndrome ; Post-vaccinial encephalitis ; Post-infectious encephalitis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The Bloch-Sulzberger syndrome of Incontinentia pigmenti (I.p.) was observed in 3 generations of one family. The grandmother and mother of 3 sisters with I.p. showed solely the typical skin lesions and no associated ectodermal abnormalities. At the age of 2 years the eldest girl with I.p. suffered from encephalitis after vaccination against smallpox. Four months later, having fully recovered, the patient suddenly deteriorated and developed generalized seizures and signs of increased intracranial pressure. She died 12 h after right temporal decompression. Neuropathological examination of the brain revealed acute hemorrhagic encephalopathy involving predominantly the white matter and leading to massive edema. In addition, there were residual signs of a perivenous encephalitis in the central and subcortical white matter of the forebrain. Signs of malformation or developmental abnormalities were absent. The second girl with I.p. experienced an afebrile convulsion 3 weeks after the first injection of diphtheria and tetanus toxoid. At the age of 2 1/4 years, one week after an upper respiratory tract infection, she developed an encephalitis which resulted in severe neurological sequelae. The third girl with I.p. suffered from an afebrile convulsion without proof of encephalitis at the age of 4 months. The pathogenesis of the CNS disorders which are frequently associated with I.p. is not yet known, but the history of neurologic lesions in this family suggests that inflammatory processes may play an important role in their evolution.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442370
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  • 10
    Electronic Resource
    Electronic Resource
    Adducted thumb syndrome (1983)
    Springer
    European journal of pediatrics 141 (1983), S. 122-126 
    Details
    ISSN: 1432-1076
    Keywords: Adducted thumb syndrome ; Congenital myopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on a female newborn baby with a “myopathic” stiff face, open mouth, high-arched palate, microgenia, generalized muscular hypotonia, limited extension of elbows, wrists and knees, flexed adducted thumbs, velopharyngeal insufficiency, and hypertrichosis. Death occurred at 3 months due to respiratory insufficiency. Muscular biopsy revealed myopathic abnormalities.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00496805
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