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  • 2000-2004
  • 1980-1984  (2)
  • Hypopituitarism  (1)
  • Immunodeficiency  (1)
  • 1
    Digitale Medien
    Digitale Medien
    Springer
    European journal of pediatrics 139 (1982), S. 81-84 
    ISSN: 1432-1076
    Schlagwort(e): Hypopituitarism ; Transsphenoidal meningoencephalocele ; Midline craniocerebral and midfacial anomaly
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract A 12-year-old boy with growth hormone deficiency and partial diabetes insipidus resulting from transsphenoidal meningoencephalocele and with eye abnormalities is described. Fifteen other patients with transsphenoidal meningoencepalocele have been reported. Hypothalamic-pituitary dysfunctions were diagnosed by endocrinological studies in seven cases. It is important to recognize transsphenoidal meningoencephalocele as a cause of hypopituitarism, since some cases may have gone unrecognized. The association of hypothalamic-pituitary dysfunction and a midline craniocerebral anomaly has been reported in patients with cleft lip and/or palate, septo-optic dysplasia, the holoprosencephalies, and Kallmann syndrome. However, there was no evidence of transsphenoidal meningoencephalocele in these disorders and this may be a different form of midline craniocerebral and midfacial anomaly.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    ISSN: 1432-1076
    Schlagwort(e): Adenosine deaminase ; Heterozygote ; Immunodeficiency
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract In the second and third families with ADA deficiency found in Japan, we tried a new approach to evaluate heterozygote detection. This is based on the hypothesis that ADA activity of red blood cell is the quantitative sum of the activities of ADA proteins expressed by two allelic genes at the ADA autosomal locus, and that these activities are not changed by the gene transmission from parents to children. We have detected red blood cell-ADA activities expressed by the one normal allelic gene in heterozygotes (including parents and paternal or maternal grandfather or grandmother) and from these values have determined combinations for the pair of ADA activities expressed by the two allelic genes of other family members. These combinations were consistently made in all relatives examined in the two families, and we conclude that several members of each family who were judged to have nil activity in the combinations were heterozygotes for ADA deficiency.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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