Biomedical subjects

U Tuschy

Publications and source records attributed to U Tuschy.

27 records · Page 2Linked to original sources

PubMed1985

[45,X/46,X,del(Yq) sex chromosome mosaicism--analysis of the phenotypic expression].

Three female patients with Turner-syndrome (sexual infantilism, short stature and somatic Turner-stigmata) have been analysed cytogenetically by means of different banding techniques. A deletion of the distal heterochromatic band Yq12 of the Y chromosome was observed in a mosaic with a 45,X-cell line, i.e. the karyotype is 45,X/46,X,del(Y)(q12). In order to get information about the phenotypic expression of the 45,X/46,X,del(Yq) mosaicism all previously published cases have been reviewed. Comparing the phenotypes of all 45,X/46,X,del(Yq) mosaic cases three different phenotype categories of sexual development can be distinguished: female individuals with sexual infantilism and Turner-stigmata, individuals with ambiguous genitals, ranging from clitoris hypertrophy of female genitals to hypospadia of males, male individuals, who are infertile (azoospermic). A comparison of the appearance of external genitals with the status of gonads of all patients revealed an unequivocal relationship between the gonad status and the resulting phenotype category. Furthermore, the role of Y-chromosomal loci determining testicular differentiation (biological function of H-Y antigen) for male development has been emphasized. The effect of the 45,X-cell line on the expression of short stature and somatic Turner-stigmata is independent of sexual development. Considering the great phenotypic variability of the 45,X/46,X,del(Yq) mosaicism it seems impossible to deduce a definitive phenotype. This problem is acute in prenatal diagnosis especially.

Adolescent↗

PubMed1985

[Fertility in the Ullrich-Turner syndrome].

We report on a 29-year old female patient with Turner's syndrome and sex chromosome mosaic 46,XX/45,X. The female patient shows a few somatic Turner-stigmata, short stature and fertility. The possibility of the development of endocrine active ovaries in women with Turner's syndrome and its consequences has been emphasized.

Adult↗

PubMed1984

[Experiences with intranasal and parenteral use of 1-desamino-8-D-arginine vasopressin (DDAVP). Use in a simple test of renal concentrating ability].

The possibility of the use of 1-desamino-8-arginine-vasopressin (DDAVP) in a functional test of the renal concentration ability was controlled. In accordance with the data in literature the results allow to propose the DDAVP concentration test as screening method for this renal function. Essential advantages are the short duration and the small laboratory-technical expenditure. A standardized approach including propositions for a critical valuation of the results is represented and its control in patients is described. If the results should be confirmed by a control in other institutions, the test might be recommended for practice.

Administration, Intranasal↗

PubMed1984

[Idiopathic hemochromatosis--diagnosis and therapy].

The excessive storage of iron in idiopathic haemochromatosis leads to severe organic lesion up to life-threatening conditions (cardiac insufficiency, portal decompensation). The symptoms melanodermia , diabetes mellitus and other endocrine failures, liver cirrhosis, cardiac insufficiency and arthropathy appear together or in various combinations. The diagnosis is ascertained by the proof of iron storage, the multiple organic affection and by familial accumulation of the various laboratory diagnostic possibilities are particularly to be emphasized the serum iron value together with the percetal transferrin saturation (as search test), serum ferritin, the desferrioxamine test, simple ferrokinetic investigations and the quantitative determination of iron in the liver in the bioptate . For family examinations, apart from the search test, a HLA typisation is reasonable, in order to estimate the risk of the disease (particularly of brothers and sisters). The therapy of choice are blood- lettings (0.5 l once to twice a week) up to obtaining a permanent easy iron deficiency anaemia. The maintenance therapy should be performed with monthly to quarterly blood- lettings . Only in cases exception a desferal treatment is indicated. Endocrine failures and cardiac disturbances need a particular therapy.

Adult↗

PubMed1983

[Experiences with intranasal and parenteral use of 1-desamino-8-D-arginine vasopressin (DDAVP). Use in the diagnosis of hypophyseal function].

While 1-desamino-8-D-arginine-vasopressin is not suitable for the functional diagnostics of the anterior pituitary gland, it has as in the therapy of the central diabetes insipidus a firm place also in its diagnostics. A hypothalamic neurohypophyseal system was demonstrated. Apart from a secure diagnostic evidence the test shows further advantages in comparison to the hitherto performed methods: an essentially smaller load for patient and personnel, a shorter duration and a simplified performance. First findings in patients with central diabetes insipidus, in a female patient with renal diabetes insipidus and patient without disturbance of the water balance are discussed. A control of our findings in other institutions is desirable.

Administration, Intranasal↗

PubMed1983

[Experiences with the intranasal and parenteral use of 1-desamino-8-D-arginine vasopressin (DDAVP)--effect of one time parenteral and intranasal applications].

The balance examinations in 10 patients with a neurohypophyseal diabetes insipidus under various forms of parenteral application (s.c., i.m., i.v.) of the 1-desamino-8-D-arginine-vasopressin show universally the very good antidiuretic effect also under these conditions. Identically with the course of action after intravenous application the maximum of action as obtained after 1 to 2 hours, the duration of action depends on the dosage, in parenteral application of 1 microgram 18 to 24 hours, on an average 20 hours. According to the results demonstrated there are no references to a specific influence of the excretion of sodium, potassium and urea. The particular dynamics of the excretion rates of these substances, of the osmolarity clearance and the osmolarity of the urine is the sequel of the restitution of the renal concentration ability under the application of the antidiuretic hormone.

Administration, Intranasal↗

PubMed1982

[Long-term study in congenital refractory anemia and secondary siderosis].

It is reported on the course of the disease in a female patient with congenital therapy-refractory anaemia, in whom a transfusion siderosis of high degree with functional disturbances of the myocardium and the liver, with endocrine disturbances (primary hypothyroidism and normogonadotropic hypogonadism) and with small growth became clinically manifest. A reduction of the iron overload by a continuous desferrioxamine therapy in form of long-term subcutaneous infusions over two years could be proved. Possibilities and problems of treatment and conclusions relevant to practice are described.

Adolescent↗

PubMed1982

[Pituitary gland extract insufflation lung].

In two patients with diabetes insipidus the development of an allergic alveolitis with transition into pulmonary fibrosis could be observed. The alveolitis is evoked by snuffing of posterior pituitary extracts. The pathomechanism of this side effect (disease) is similar to those of other allergic alveolitides (e.g. farmer's lung, bird-fancier's lung, malt-worker's lung etc). This disease can be avoided by changing the therapy of diabetes insipidus to fully synthetic preparations free of protein. When irreversible changes are already present at the stroma of the lung (X-ray picture, function of the lung, histology), then the therapeutic possibilities are restricted and the prognosis is unfavourable.

Administration, Intranasal↗

PubMed1979

[Retardation of puberty and growth].

The disturbed puberty is most frequently manifested by a retardation of sexual maturation and growth. For a correct classification of a developmental disturbance the knowledge of the endocrine processes, of the stages of puberty, tables of height and methods of the assessment of the skeletal maturity is necessary, the use of which for the population of the GDR is discussed. The large differential diagnosis of the delayed puberty and of the short stature must be above all concentrated to the causal-therapeutically influencible endocrinopathies, even though the proportion of the constitutional delayed puberty as an extreme variant of the norm with a good spontaneous prognosis prevails. In order to prevent serious psychosocial conflicts, after transgression of a critical age limit of about 16 years in sexual immaturity an adequate hormone treatment should be introduced even then, when the etiopathogenesis of the disturbance could not be completely clarified.

Adolescent↗