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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 140 (1983), S. 5-12 
    ISSN: 1432-1076
    Keywords: Proteus syndrome ; Macrodactyly ; Hemihypertrophy ; Pigmented nevi ; Skull anomalies ; Lipomas
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Four boys are described with partial gigantism of the hands and/or feet, pigmented nevi, hemihypertrophy, subcutaneous hamartomatous tumors and macrocephaly, and/or other skull anomalies. Three of these patients showed an accelerated growth in their first years of life. Two suffered from cystiform pulmonary abnormalities. The children showed normal mental development with the exception of one with traumatic brain damage. Parental consanguinity was not disclosed. As a result of a review of the literature, we can say that these cases do not conform to any well defined entity and would appear to represent a ‘new’ syndrome to be categorized under congenital hamartomatous disorders. The mode of inheritance of the undoubtedly genetically determined syndrome is yet not clearly understood. We propose the term Proteus syndrome for this ‘new’ syndrome.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 138 (1982), S. 263-265 
    ISSN: 1432-1076
    Keywords: Invasive aspergillosis ; CNS-leukemia ; amphotericin B-5 ; Fluorocytosine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A favourable outcome was observed in a 12 year-old boy who developed invasive pulmonary and cerebral aspergillosis during antineoplastic treatment for central nervous system relapse of acute lymphoblastic leukemia. Combination therapy with amphotericin B and 5-Fluorocytosine led to complete regression of pulmonary infiltrates. Despite enlargement of the cerebral lesion monitored by computerized tomography, no viable fungi were found in the completely resected abscess after a 4 weeks' course of antifungal treatment preceeding neurosurgery. Histological examination confirmed the diagnosis of an aspergillotic abscess. The initially severe neurological symptoms disappeared after successful surgery. Aspergillus fumigatus was detected in the soil of a potted ornamental plant in the mother's living room, suggesting that this might have been the source of the infectious agent.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Mutation Research DNA Repair Reports 131 (1984), S. 137-142 
    ISSN: 0167-8817
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 40 (1978), S. 345-349 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A report is given on a small-for-date male infant showing the following symptoms: bilateral aplasia of humerus, radius, and ulna, shortened femora, bilateral cleft lip and cleft palate, stigmata of dysmorphism, and notably; simple helix formation of the ear, simian crease, clinodactylia, bilateral clubfoot deformity, hypospadia, thrombocytopenia, micrognathia, and contractures in the knee joints. Postmortem autopsy revealed horseshoe kidney, ureterstenosis with hydronephrosis, persistent branchial arches, and absence of the knee joints. Chromosome analysis results performed by G-band technique turned out normal. This, obviously, was a case of the so-called Roberts' syndrome. Our results were compared with the relevant literature and some particularities were especially emphasized. The question was discussed as to whether the SC-phocomelia (pseudothalidomid syndrome), the TAR syndrome, and reported single cases might be an identical syndrome.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 55 (1980), S. 227-229 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Disomic and trisomic cells of a patient with Down syndrome mosaic were used to study the effect of the additional chromosome 21 against an identical genetic background. The frequency of Ag staining and the participation in satellite associations were determined for each pair of acrocentric chromosomes. The additional chromosome 21 of the trisomic cells and its homologues proved to be regularly Ag positive. Therefore the trisomic cells showed more Ag positive chromosomes and more satellite associations per cell than the diploid cells. Thus, no compensation for the additional rRNA-gene dose could be found in the cells of the trisomic line.
    Type of Medium: Electronic Resource
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