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  • 1
    Electronic Resource
    Electronic Resource
    A family with whistling-face-syndrome (1980)
    Springer
    Human genetics 〈Berlin〉 55 (1980), S. 177-189 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A family with 7 persons affected with whistling-face-syndrome in 3 successive generations is described. The clinical variability of the syndrome within one family is demonstrated by means of examining particular characteristics of four daughters in the family. Six affected persons are female; the only male carrier died in early infancy because of the severity of symptoms. The known autosomal dominant inheritance combined with clinical variability and bias towards female manifestation is present in this family.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291765
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    On the influence of age on immunity in Down's syndrome (1977)
    Springer
    European journal of pediatrics 124 (1977), S. 77-87 
    Details
    ISSN: 1432-1076
    Keywords: Down's syndrome ; Dysgammaglobulinaemia ; Cellular immune deficiency ; Premature aging of immune system
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In 23 subjects of different ages with Down's syndrome a number of parameters of non-specific defense of humoral and of cellular immunity were investigated. While in all age groups complement factors C3, C4 and C5 as well as phagocytosis and NBT indices were in the normal range, a dysgammaglobulinaemia increasing with age with a hyperglobulinaemia of the IgG, IgA and IgD types was found, sparing immunoglobulins IgM and IgE. In addition the transformation capacity of peripheral blood lymphocytes decreased with age. This is understood as the consequence of premature aging of the thymus-dependent immune system.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00477543
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Cri-du-chat syndrome with an increased level of proline and threonine (1974)
    Springer
    European journal of pediatrics 117 (1974), S. 259-264 
    Details
    ISSN: 1432-1076
    Keywords: Cri-du-chat syndrome ; Kidney malformation ; Aminoacids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Bei einem Säugling mit Cri du chat-Syndrom (46,XX,5p-) werden die typischen Symptome aufgezeigt. Die Häufigkeit von Nierenmißbildungen und ein erhöhter Serum- und Urinspiegel von Prolin und Threonin, zum erstenmal bei einem einfachen Cri du chat-Syndrom beschrieben, werden diskutiert.
    Notes: Abstract The typical symptoms of the cri-du-chat syndrome (46,XX,5p-) are described in an infant. The frequency of kidney anomalies and increased serum and urine levels of proline and threonine, described for the first time in a single case of cri-du-chat syndrome, are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00440492
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Phagocyte dysfunction in common variable immune deficiency (1977)
    Springer
    Journal of molecular medicine 55 (1977), S. 735-742 
    Details
    ISSN: 1432-1440
    Keywords: Variables Immunmangelsyndrom ; Neutropathie ; Monozytendysfunktion ; Folsäuremangel ; Common variable immune deficiency ; Neutrophil-monocyte dysfunction ; Deficiency of folic acid
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The history of a 13-year old boy is reported who suffered from frequent bacterial, enteroviral, and protozoal infections since late infancy. A decrease in the serum levels of IgG2, IgG3, IgA, a neutrophil dysfunction, and a partial cellular immune deficiency could be demonstrated. A deficiency of folic acid produced a pancytopenia which enhanced the patient's susceptibility to infections. The combined substitution of gammaglobulins and folic acid only was able to break this vicious cycle.
    Notes: Zusammenfassung Es wird über einen 13jährigen Jungen berichtet, der seit der späten Säuglingszeit an häufig wiederkehrenden bakteriellen, enteroviralen und protozoalen Infekten erkrankte. Neben der Erniedrigung der IgG2- IgG3- sowie IgA-Serumspiegel wurden eine Neutropathie und eine partielle Störung der zellulären Infektabwehr gefunden. Ein Folsäuremangel führte zur Panzytopenie und erhöhte damit noch die Infektanfälligkeit. Erst die kombinierte Substitution von Gammaglobulinen und Folsäure vermochte den Circulus vitiosus zu durchbrechen.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01476960
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    Defects in granulocyte function in various chromosome abnormalities (down's-, edwards'-, cri-du-chat syndrome) (1976)
    Springer
    Journal of molecular medicine 54 (1976), S. 177-183 
    Details
    ISSN: 1432-1440
    Keywords: Granulocyten ; Chemotaxis ; Phagocytose ; Intrazelluläre Keimabtötung ; Down-, Edwards, Cri-du-chat-Syndrom ; Granulocytes ; Chemotaxis ; Phagocytosis ; Intracellular microbicidal activity ; Down's-, Edwards'-, Cri-du-chat Syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary In five infants with autosomal aberrations and diminished resistance to infection (in spite of intact humoral and cellular immune mechanisms) several granulocyte functions (chemotaxis, phagocytosis, intracellular killing and metabolism of killing) were measured. A serum-dependent or a cell-dependent disturbance of phagocytosis of Candida albicans was found in two infants with cat-cry syndrome and one with trisomy 18. In one of these children there was an additional serum dependent defect of the killing of Candida albicans and of Staphylococcus aureus, serum levels of opsonins (IgG, IgM, CH50 and C3) being within normal range. An infant with trisomy 21 showed, in addition to a cellular defect of chemotaxis, a reduced cellular ability of the killing of Staphylococcus aureus and of Escherichia coli in autologous and AB-pool-serum. Phagocytosis of these bacteria remained normal.
    Notes: Zusammenfassung Bei fünf Säuglingen mit Autosomenaberrationen, herabgesetzter Infektresistenz und intaktem humoralen und zellulären Immunapparat wurden die Granulocytenfunktionen Chemotaxis, Phagocytose, intrazelluläre Erregerabtötung und einige Stoffwechselvorgänge experimentell untersucht. Eine serumabhängige bzw. zelluläre Phagocytoseschwäche für Candida albicans bestand bei zwei Säuglingen mit Cri-du-chat-Syndrome und einem anderen mit Trisomie 18. Bei einem dieser Kinder bestand zusätzlich eine serumabhängige, verzögerte Erregerabtötung von Candida albicans sowie von Staphylococcus aureus, wobei die Serumspiegel der Opsonine IgG, IgM, CH 50 und C3 normal waren. Ein Säugling mit Trisomie 21 bot außer einem zellulären Chemotaxisdefekt ein verringertes zelluläres Abtötungsvermögen für Staphylococcus aureus sowie Escherichia coli im Eigen- und im Fremdserum. Die Phagocytose dieser Keime hingegen verlief ungestört.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01468883
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    Paper (German National Licenses)
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