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  • 1
    ISSN: 1365-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: A girl with severe combined immunodeficiency and pronounced malnutrition from chronic diarrhoea is presented. Immunological reconstitution was attempted by transplantation of bone marrow cells from the HL-A hemiallogeneic father. An initial transplant failed to induce a permanent take of the graft, whereas a second transplant with an increased cell dose ensured a take, which was followed by reconstitution of cell-mediated immune functions. Fractionation of the transplanted bone marrow cells apparently led to a delay in development of graft-versus-host symptoms. Germ-free isolation and extensive bacterial decontamination markedly reduced the microbial flora and was highly protective against contaminating microorganisms but failed to eradicate completely one strain of Escherichia coli that had invaded the child before institution of this regimen. During a moderate, delayed graft-versus-host reaction this strain caused widespread severe infection, to which the child succumbed 10 weeks after the second transplantation. This child presented some additional features, the most conspicuous being a deficiency of erythrocyte adenosine deaminase.
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  • 2
    ISSN: 1432-072X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary The basis for the difference between strains 168 (d-tyrosine-sensitive) and 23 (d-tyrosine-resistant) of Bacillus subtilis at the molecular level is that of transport of d-tyrosine into the cell. Strain 23 does not incorporate significant amounts of d-tyrosine into whole cells. A mutant derivative was isolated from strain 23 which had an altered transport system permitting d-tyrosine uptake, a change which also led to inhibition of growth by d-tyrosine. Strain 168 is extremely sensitive to growth inhibition caused by low concentrations of the d-isomer of tyrosine. A mutant derivative of strain 168 selected for its d-tyrosine resistant phenotype had an altered transport system which no longer recognized the d-isomer of tyrosine. These mutants define at least one element of the tyrosine transport system in B. subtilis and provide a convenient phenotype for the eventual location of the chromosal map position.
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Frequencies of the dibucaine resistant variant of pseudocholinesterase and of the electrophoretic C5 + component have been investigated in a sample of 992 Finnish Lapps and 317 Finns. Skolt Lapps show distinctly higher values than the other Lapps and Finns of this area. The lowest frequency of the C5 + component has been found in Finns. The frequencies found in the various population groups of this study fit well into the range reported for the human populations studied so far.
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  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Bei den 297 Patienten mit Karyotypen 47,XXY, 47,XYY, 47,XXX und 45,X, die bis zum 1. Januar 1971 im Dänischen Cytogenetischen Centralergister registriert worden sind, unterschied sich die jahreszeitliche Variation in der Geburtenhäufigkeit signifikant von der erwarteten Variation. Die Konzeptionshäufigkeit war in den Monaten Juni, Juli und August erhöht und im September, Oktober und Dezember erniedrigt, wohingegen die Variation in der Geburtenhäufigkeit von 791 Patienten mit Karyotypen 47,XX order XY,+21 Abnormitäten nicht signifikant unterschiedlich von der erwarteten Variation war. Es fand sich kein Zusammentreffen zwischen dem Häufigkeitsgipfel der Konzeption von Kindern mit aneuploiden Geschlechtschromosomenabnormitäten und dem Gipfel einer Reihe von Infektionskrankheiten. Daraus wird geschlossen, daß die Ätiologie der jahreszeitlichen Variation der Konzeptions-häufigkeit und Geburten von Kindern mit aneuploiden Geschlechtschromosomenabnormitäten unbekannt ist. Eine Reihe möglicher Faktoren wird erwähnt.
    Notes: Summary The seasonal variation in frequency of birth of 297 patients with karyotypes 47,XXY, 47,XYY, 47,XXX and 45,X registered in the Danish Cytogenetic Central Register until January 1st, 1971, was significantly different from the variation expected. The frequency of conception was higher than expected in June, July and August and lower in September, October and December. The variation in frequency of birth of the 791 patients with trisomy 21 was not significantly different from the expected value. There was no coincidence between the peak frequency of conception of children with aneuploid sex chromosome abnormalities and the peak frequency of a number of infectious diseases. It is concluded that the cause of the seasonal variation in frequency of conception and birth of children with aneuploid sex chromosome abnormalities is unknown. A number of possible factors are mentioned.
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  • 5
    ISSN: 1432-119X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary To investigate the possibility, implied by an earlier report, that large amounts of degradable DNA are probably present in the cytoplasm of young cotton embryos, an investigation was undertaken to establish the distribution, amount and metabolic stability of DNA in cotton embryos. Several sensitive cytochemical tests failed to detect any but small amounts of extranuclear DNA. Quantitative determination of the nucleic acid content of embryos during embryogenesis showed that the amounts of DNA and RNA remained fairly constant during embryogenesis, with a ratio of RNA to DNA of about 3.5 to 1. Quantitative autoradiography at both the light and electron microscope levels of sections from embryos pulse-labeled with 3H-thymidine showed that the grain density over the nucleus and cytoplasm did not change during a seven-hour period after labeling, nor did the distribution of label in the cytoplasm. Virtually all incorporation was eliminated by the inclusion of iododeoxy-uridine in the medium. Almost all of the nuclear label and at least 90% of the cytoplasmic label after 3H-thymidine incorporation was eliminated by deoxyribonuclease. It was concluded that there are no unusual features related to DNA distribution or metabolism in cotton embryo; i.e., that only small amounts of DNA are present in the cytoplasm and that all of the DNA is metabolically stable. Approximately 40% of the cytoplasmic grains after 3H-thymidine labeling were not associated with either plastids or mitochondria (i.e., were more than 0.1 micron distant). No fully satisfactory explanation for such an apparently high figure could be given.
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  • 6
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung 1. Der Vergleich der tryptischen Peptide von normaler und dibucain-resistenter Pseudocholinesterase zeigte eine unterschiedliche elektrophoretische Beweglichkeit für die mit radioaktivem DFP markierbaren Peptide. Die Ergebnisse ließen auf den Verlust einer negativen Ladung in der Nähe der esteratischen Stelle des aktiven Zentrums bei der Enzymvariante schließen. 2. Die quantitative Untersuchung der interindividuellen Variabilität des Pseudocholinesteraseantigens und der Enzymaktivität in einer Stichprobe der Bevölkerung ergab eine enge Korrelation der Werte. Seren, die die C5-Variante enthielten, hatten mehr Pseudocholinesteraseantigen als C5-negative Seren. Die Möglichkeit der Erkennung subtoxischer Insecticidbelastungen wurde aufgezeigt. 3. Immunologische und biochemische Untersuchungen an kultivierten menschlichen Fibroblasten von normalen und enzymdefizienten Individuen ergaben keine Evidenz für die Synthese von Pseudocholinesterase.
    Notes: Summary 1. The comparison of the tryptic peptides of usual and dibucain-resistent Pseudocholinesterase revealed a different electrophoretic mobility of those peptides which can be labelled with radioactive DFP. The results suggested the loss of a negative charge near the esteratic site of the active center in the variant enzyme. 2. The investigation of quantitative interindividual variation of Pseudocholinesterase antigen and enzyme activity in a sample of the population showed a high correlation of the values. Sera containing the C5-variant have more antigen than C5-negative sera. A possibility to detect subtoxic exposure to organophosphates was pointed out. 3. Immunological and biochemical investigations on human cultured fibroblasts from normal and enzyme deficient individuals failed to give evidence for the synthesis of Pseudocholinesterase.
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 17 (1972), S. 61-64 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Zwei potentiell myelotoxische Agentien — Phenylbutazon und Chloramphenicol — zeigten keine cytogenetische Wirkung auf Knochenmarkszellen von Mensch und Ratte in vivo. Chloramphenicol ließ auch die Fähigkeit vermissen, Chromosomen menschlicher Lymphocyten in vivo zu schädigen. Chloramphenicol reduzierte jedoch den Anteil Rubidomycin-induzierter Chromatiden-Reunionen bei Ratten im Vergleich zu der Anzahl anderer Aberrationen. Es wird die mögliche Beziehung zwischen der chromosomenschädigenden und der myelotoxischen Wirkung chemischer Stoffe diskutiert.
    Notes: Summary Two potentially myelotoxic agents, phenylbutazone and chloramphenicol, had no cytogenetic effect on human and rat bone-marrow cellsin vivo. Nor was chloramphenicol capable of damaging chromosomes in cultured human lymphocytesin vitro. However, chloramphenicol reduced the proportion of rubidomycin-induced chromatid exchanges in rats in relation to the number of other types of aberrations. The possible relation between the chromosome-damaging and myelotoxic effects of chemical agents is discussed.
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 17 (1973), S. 155-159 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Schwachsinn, Ichthyose der Haut und spastische Di-oder Tetraplegie sind die Hauptsymptome des Sjögren-Larsson Syndroms. Als klinische Entität wurde dieses Krankheitsbild 1957 von zwewei schwedischen Psychiatern an Hand von 27 Fällen erstmalig zusammengefaßt. Bis heute sind etwas mehr als 100 Kasuistiken in der Weltliteratur beschrieben. Es wird über 3 weitere Beobachtungen in einer Familie berichtet und auf die Diagnostik und die Aussage für eine genetische Beratung gesunder Geschwister eingegangen.
    Notes: Summary Oligophrenia, ichthyosis, and spastic di-or tetraplegia are the main symptoms of Sjögren-Larsson syndrome. This syndrome, first described in 1957 by two Swedish psychiatrists, has so far been observed in some 100 cases. Three further cases, observed in one family, are reported.
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 30 (1974), S. 271-276 
    ISSN: 1432-0533
    Keywords: Intracranial Teratoma ; Electron Microscopy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A massive congenital benign teratoma grossly replacing the cerebral hemispheres has been examined by light and electron microscopy. The tumor contained tissues derived from all three germ layers. The cerebellum showed morphological features suggesting a state of maturation equivalent to that of 20 to 25 weeks of gestation. The tumor is discussed in the light of present theories on the pathogenesis of teratomas.
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  • 10
    ISSN: 1432-0533
    Keywords: Cerebellum ; Granule Cell ; Necrosis ; Enzyme
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Selective necrosis of the granular layer of the cerebellum was induced in 14 of 25 rats by subcutaneous injections of thiophen. Pyknosis of the granule cell nuclei can be seen before any alteration in the cytoplasmatic oxidative enzymes or acid phosphatases. After the termination of the thiophen injections there is a temporary fall in the NADH-tetrazolium reductase in the Purkinje cells. This may be due to a transneuronal influence of the altered granule cells.
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