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  • Atrophic auto-immune thyroiditis  (1)
  • Clinical characteristics  (1)
  • D1S80  (1)
  • 1
    ISSN: 1432-1076
    Schlagwort(e): Atrophic auto-immune thyroiditis ; Goitrous auto-immune thyroiditis ; TSH-binding inhibitor immunoglobulins ; Thyroid stimulation blocking antibodies ; TSH receptor antibodies
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract We studied the clinical features, laboratory and thyroid functions and thyrotropin (TSH)-receptor and thyroid-stimulation antibodies in 21 patients with atrophic auto-immune thyroiditis (AAT) and 48 patients with goitrous auto-immune thyroiditis (GAT) of childhood onset. The clinical features of patient with AAT were cessation of growth and obesity, while asymptomatic enlargement of the thyroid gland was the sole symptom in most patients with GAT. Although the ages at diagnosis were comparable in both groups, the estimated ages at onset were much lower in patients with AAT than in those with GAT. Patients with AAT exhibited more severe hypothyroidism when evaluated by serum thyroxine (T4), tri-iodothyronine (T3), TSH, cholesterol levels and basal metabolic rates. The 24h123I-thyroidal uptake was significantly lower in patients with AAT than in those with GAT. None of the 19 patients with AAT possessed TSH-binding inhibitor immunoglobulins (TBII). On the other hand, 3 of the 32 GAT patients tested, possessed weak to potent TBII activities. Three TBII-positive patients with GAT also possessed thyroid-stimulation blocking antibodies. These findings suggest that: 1. Pathogenesis of AAT in children whose onset of hypothyroidism was before puberty is not due to TSH-receptor blocking antibodies, which are often found in patients with AAT of postpubertal onset. 2. AAT in children is considered not to be due to the later stage of GAT. 3. Some patients with GAT possessed TSH-receptor blocking antibodies. The aetiology and pathogenesis of AAT in children have yet to be elucidated.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    ISSN: 1437-1596
    Schlagwort(e): Key words Population study ; HUMFES ; HUMVWA ; HUMF13A01 ; D1S80 ; Philippines
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin , Rechtswissenschaft
    Notizen: Abstract Allele frequency distributions at the short tandem repeat (STR) loci HUMVWA, HUMFES, HUMF13A01 and of the variable number of tandem repeat (VNTR) locus D1S80 were determined in a Filipino population from Metro Manila (103 individuals) by use of the polymerase chain reaction (PCR) followed by polyacrylamide gel electrophoresis (PAGE). The exact test demonstrated that all four loci had no deviations from Hardy-Weinberg equilibrium (HWE) with the only reservation that the exact test p-value for F13A01 is weak. The discriminating power is 0.82 for D1S80, and the expected exclusion chance is 0.85 for F13A01, 0.83 for FES, and 0.93 for VWA. The observed heterozygosity rates are 0.63 for D1S80, 0.66 for F13A01, 0.67 for FES, and 0.80 for VWA. The exact test for independance between all loci gave a p-value of 0.0195. This is the first time that Filipino population data of DNA loci of forensic importance are reported.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 3
    Digitale Medien
    Digitale Medien
    Springer
    Journal of human genetics 44 (1999), S. 428-430 
    ISSN: 1435-232X
    Schlagwort(e): Key words cAMP-responsive element-binding protein ; Transcription factor ; Promoter ; Variant ; Schizophrenia ; Clinical characteristics
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract Cyclic AMP-responsive element-binding protein (CREB) is one of the messenger molecules involved in intracellular signal transduction pathways used by most dopamine and serotonin receptor subtypes. In addition, CREB stimulates the expression of a number of genes, alterations in the expression of which may be associated with schizophrenia. The promoter region of the human CREB gene was therefore analyzed to identify genetic variants that may lead to the modification of CREB expression and contribute to schizophrenia. Eighty unrelated schizophrenics and 100 healthy controls were screened for genetic variants of the CREB gene by SSCP analysis, followed by direct sequencing of PCR products. Two novel variants (−933T?C and −413G?A) were found only in schizophrenics. A patient with the −933T?C variant had unusual clinical characteristics in addition to typical schizophrenic symptoms.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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