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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary HLA genotype and HLA-linked marker data for 40 unrelated patients from central Italy and 2 unrelated patients from Sardinia with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH-def) were analyzed. The results confirm that the HLA-linked 21-OH-def gene is associated with several different HLA determinants and complete HLA haplotypes, although the only determinant with significantly increased frequency was the complement C2 allele C2B. The HLA antigens B8 and DR3 were found in significantly decreased frequencies. The haplotype A3, Cw6, Bw47, BfF, DR7, which is exceptionally rare in the general population but which has been found in many other 21-OH-def patients from diverse geographical origins, was also found in one of the Italian patients. This and other HLA haplotype associations found among the Italian patients may represent mutations that have occurred on HLA haplotypes with genetic linkage disequilibrium or, alternatively, may represent mutations that have not yet had time to become randomly associated with different HLA complex determinants. The marked negative associations with B8 and DR3 could, however, result from an interaction between the gene products of the HLA complex and the 21-OH-def phenotype.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1440
    Keywords: Adrenocorticotropes Hormon ; Mineralocorticoid-Hormone ; Renin ; Natrium ; Blutdruck ; Kinder ; Adrenocorticotropic hormone ; Mineralocorticoid hormones ; Renin ; Sodium ; Blood pressure ; Children
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The effect of a 5 day ACTH test (40 U/24 h) on plasma aldosterone (aldo), deoxycorticosterone (DOC), plasma renin activity (PRA) and urinary excretion of aldosterone-pH1-conjugate (pH-1-aldo) and tetrahydro-DOC (TH-DOC) was investigated in 8 normotensive children (group I), 8 patients with hypertension of unknown origin (group II), and 4 hypertensive children with dexamethasone suppressible hyperaldosteronism (DSH) (group III). Changes in blood pressure and sodium balance were studied in all groups. Under baseline conditions there was no hormonal difference between group I and II. In contrast, the children in group III had a suppressed PRA and a 1.5–2 fold elevation of aldo and DOC. Plasma DOC and urinary THDOC increased continuously 10–50 fold in all groups during the ACTH test. Aldo rose transiently 2–4 fold on the first day of ACTH and fell subsequently below baseline levels in group I and II. The children with DSH (group III), however, showed an unusual, sustained aldo stimulation with ACTH. PRA decreased significantly after ACTH in group I and II. Sodium retention and an elevation of blood pressure were found in all groups during ACTH administration. The highest blood pressure rise was observed in group III (from 124/72 to 139/90 mm Hg). The blood pressure response to ACTH was partly sodium dependent. Although aldo and DOC and sodium retention may contribute to the ACTH induced blood pressure elevation, other factors must play a role.
    Notes: Zusammenfassung Der Einfluß einer 5tägigen ACTH-Behandlung (40 U/24 h) auf Plasma-Aldosteron (Aldo), Deoxycorticosteron (DOC), Plasma-Reninaktivität (PRA), auf die Ausscheidung des Aldosteron-pH-1 Conjugates (pH-1-aldo) und auf Tetrahydro-DOC (TH-DOC) wurde untersucht in Gruppe I: acht normotensiven Kindern; Gruppe II: acht Patienten mit Bluthochdruck unklarer Genese; Gruppe III: vier hypertensiven Kindern mit Dexamethason-supprimierbarem Hyperaldosteronismus (DSH). Änderungen des Blutdruckes und der Natriumbilanz wurden in allen Gruppen untersucht. Ohne Behandlung bestand kein Unterschied zwischen den Gruppen I und II. Die Kinder der Gruppe III hingegen zeigten erniedrigte PRA und eine 1,5–2fache Erhöhung des Aldo und DOC. Plasma-DOC und TH-DOC im Urin stiegen kontinuierlich auf das 10–50fache in allen Gruppen während des ACTH-Tests an. Aldo war am 1. Tag des Tests vorübergehend um das 2–4fache erhöht und fiel anschließend unter die Ausgangswerte in den Gruppen I und II. Die Kinder mit DSH (Gruppe III) zeigten eine ungewöhnliche, anhaltende Stimulation des Aldo unter ACTH-Behandlung. PRA war in den Gruppen I und II signifikant erniedrigt. Natriumretention und Anstieg des Blutdruckes wurden in allen Gruppen während des ACTH-Tests festgestellt. Die höchsten Blutdruckanstiege (von 125/72 auf 139/90) wurden in Gruppe III beobachtet. Das Ansprechen des Blutdruckes auf ACTH war zum Teil abhängig vom Natrium. Obgleich Aldo, DOC und Natriumretention wahrscheinlich zu dem ACTH-induzierten Blutdruckanstieg beitragen, müssen noch weitere Faktoren zu dessen Entstehung beitragen.
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  • 3
    Electronic Resource
    Electronic Resource
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Medicine 35 (1984), S. 649-663 
    ISSN: 0066-4219
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Medicine
    Type of Medium: Electronic Resource
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