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  • 1
    Electronic Resource
    Electronic Resource
    Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion (1997)
    Springer
    European journal of pediatrics 157 (1997), S. 34-38 
    Details
    ISSN: 1432-1076
    Keywords: Key words Hypoparathyroidism ; 22q11 deletion ; DiGeorge syndrome ; Graves disease ; Idiopathic thrombocytopenic purpura
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The phenotypes of chromosomal 22q11.2 microdeletion are quite variable among individuals and hypoparathyroidism (HP) constitutes a definite portion of the clinical spectrum. For the correct diagnosis and pertinent follow up of the HP children due to del22q11.2, we tried to delineate the clinical characteristics of such patients. By employing fluorescence in situ hybridization (FISH) to all the patients diagnosed as HP in our clinic, ten possessed the 22q11.2 microdeletion. Among them, the incidence of cardiac defect (5/10), recurrent infection (1/10) and cleft palate (1/10) was modest. Additionally, seven of them had been diagnosed as HP during the infantile period, when their facial abnormality and intellectual problem had not become evident. Notably, two patients were complicated by Graves disease, while the association of idiopathic thrombocytopenic purpura was also observed in two girls. Conclusion HP due to del22q11.2 may be misdiagnosed as idiopathic, especially in an infant who lacks apparent complications like cardiac anomaly. They should be closely followed up for auto-immune complications.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050762
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  • 2
    Electronic Resource
    Electronic Resource
    Measurement of the skin urocanic acid content in normal and histidinemic infants (1983)
    Springer
    European journal of pediatrics 140 (1983), S. 330-332 
    Details
    ISSN: 1432-1076
    Keywords: Histidinemia ; Urocanic acid ; Histidase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The urocanic acid content of the skin was measured photometrically in a large number of normal and histidinemic infants. A very high content was demonstrated in the normal newborn infants, followed by a rapid decrease throughout early infancy. In contrast, 36 measurements in 17 infants with histidinemia revealed a much lower content even in their newborn periods. Thus, the quantification of skin urocanic acid was considered to be simple and useful for confirming the diagnosis of histidinemia, especially in a neonatal mass-screening program.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442675
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    The application of microspectrocytofluorometric measurement of Feulgen nuclear DNA content in experimental tumors of rat submandibular gland, 2. The correlation between proliferative ability and nuclear DNA content of tumor tissue in autotransplanted areas (1987)
    Oxford, UK : Blackwell Publishing Ltd
    Journal of oral pathology & medicine 16 (1987), S. 0 
    Details
    ISSN: 1600-0714
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: We have reported that there is a difference in the variation of the nuclear DNA content of tumor cells among cases of squamous cell carcinoma induced by 9,10-dimelhyl-1,2-benzanlhracenc (DMBA) in the rat submandibular gland. In the present investigation, the relationship between the nuclear DNA content of tumor cells in autotransplanted sections collected from primary lesions of DMBA-induced tumors and their proliferative ability in the subfascial area of the rat abdomen was examined. As a result of autotransplantation, proliferation in the autotransplanted area was observed in 6 of 14 (42.8%) cases of autotransplantation. Five of these had a keratinizing squamous cell carcinoma while the remaining one had a sareomatoid tumor. The histological type of the tumor of the proliferative lesion in the transplanted area was very similar to that of the tumor tissues in the primary lesion or the transplanted section collected from the primary lesions. In the proliferative group, marked variation of the nuclear DNA content was observed in the tumor cells of the transplanted section. The proliferative index (PI) was high for these tumor cells in this group. There was no variation in the nuclear DNA content in the tumor cells of the nonproliferative group, and the PI was also low. These results were considered to suggest that there was a correlation between the nuclear DNA content of these experimental tumor cell and their proliferative ability in the autotransplanted area. Therefore, the determination of nuclear DNA content by this method can be used as an objective index of the proliferative ability of tumor tissue.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1600-0714.1987.tb00692.x
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    Paper (German National Licenses)
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