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Biomedical subjects

E Schwinger

Publications and source records attributed to E Schwinger.

At least 163 records · Page 9Linked to original sources
PubMed1981

[Congenital bone dysplasia and vitreoretinal degeneration].

Morbus Kniest was described by Springer and Wiedemann as an early form of dysplasia spondylo-epi-metaphysaria. The syndrome is combined with vitreoretinal degeneration. It is an autosomal dominantly inherited disorder, like Morbus Wagner. We report on a case with dwarfism and cataracta complicata. The diagnosis must be differentiated to Morbus Morquio.

Adult↗
PubMed1980

[Critical evaluation of the evidence of a chromosome expertise in 24 cases of disputed paternity (author's transl)].

In 24 highly selected cases of disputed paternity a chromosome expertise (karyotyping with Q banding) was performed. These included 11 cases with one man and 13 cases with two men alleged. Among the latter both men were related (brothers, father and son) in five cases; in one case the father of the mother was involved. In seven cases a definite judgement could be achieved on the disputed relationship. In most other cases the assumed true father had been investigated while having no informative karyotype. It is concluded that karyotyping should be performed when an exclusion can be expected. In addition, in all informative cases the positive information towards paternity should be included in calculations of probability of fatherhood according to Essen-Möller.

Adult↗
PubMed1980

[Dysgerminoma in pure gonadal dysgenesis (author's transl)].

By modern cytogenetic methods gonadal dysgenese are more often and exactly clarified than in former times. The cytogenetic analyses have shown that pure XY gonadal dystenesis is often combined with germ cell tumors. A hypergonadotropic ovarian insufficiency as well as a rapidly growing tumor of the left adnexa were diagnosed in a 26-year old woman. At abdominal hysterectomy and bilateral adnexectomy a dysgerminoma on the left side was found as well as on the right side gonadal stroma and rudiments of the Wolffian duct. Blood lymphocytes showed a 46, XY karyotype. The H-Y antigen determination was a positive intermediary titer as compared with normal female and male controls. The cytogenetic demonstration of a pure gonadal dysgenesis in patients with dysgerminoma is important because bilateral development of tumors may occur. Therefore, hysterectomy with bilateral adnexectomy should be carried out.

Adult↗
PubMed1980

[Early changes in the microangiogram of the rabbit brain after experimental skull and cerebral trauma. Part 1 methods (author's transl)].

Experiments were performed in order to determine what changes occur in the microcirculation of the brain in animals following closed skull trauma, when these occur in relation to the trauma and what further changes are to be expected. In the first part of the paper suitable experimental methods are described. Skull trauma was inflicted to anaesthetised rabbits by means of a special apparatus by which impact speed, force, frequency, acceleration and period of contact could be determined. Three, five, ten and 15 minutes following the trauma, a special mixture was injected through a catheter in the aortic arch and the animals were decapitated. The brain was sectioned in three anatomically defined places and examined histologically and by microangiography. For the latter purpose glass plate coated with emulsion, a special exposure chamber and an x-ray tube with small focal spot were used. Exposures of five minutes permitted objects of 0.78 micrometers to be sharply resolved. Twenty-one defined areas were enlarged 360 times and compared with histologic sections. The normal microcirculation in the rabbit brain is described.

Angiography↗
PubMed1978

Sex determination in nuclei of amnion fluid cells.

Hypotonic treatment of amnion fluid cell-nuclei was found to enhance demonstration of Y chromatin and of autosomal fluorescence in interphase cell-nuclei following quinacrine mustard staining. In contrast, visualization of the Barr body was not improved by this treatment. Nuclear sex determination on cellular material from 200 samples of amniotic fluid was unequivocal in 197 cases; in only 3 cases were the findings uncertain. There were no erroneous determinations. In one instance maternal cellular tissue was observed in smear preparations. Nuclear sex determination presents a simple method of supplementing and substantiating prenatal chromosomal diagnosis.

Amniocentesis↗
PubMed1977

[Demonstration of air inclusions in human hair by light and UV microscopy (author's transl)].

Cranial hairs of 47 randomly selected probands were examined for the presence of air inclusions by conventional light microscopy and by short-wave ultraviolet-light microscopy. The air inclusions seen in UV light stand out as brightly luminous regions against the surrounding hair substance. Two sorts of air inclusions were observed-strips-like or cleft-like regions running parallel to the longitudinal axis localized inthe cortex of the hair and air containing pores on the hair surface. The presence and amount of the air inclusions is independent of the hair colour.

Adolescent↗
PubMed1976

Studies on frequency of Y chromatin in human sperm.

The preparation and evaluation of human ejaculate smears on cover glasses enables double-sided examination of the individual sperm heads in the fluorescence microscope. By this method of observation the frequency of Y chromatin in the ejaculates of 19 probands increased significantly to between 1.7 and 6.3%. However, the frequency of 50% Y chromatin-positive sperms theoretically to be expected is not found by applying this technique. Furthermore, sexual abstention of at least 14 days leads to a statistically significant decrease of the frequency of Y chromatin. These observations could explain why the data on Y chromatin frequency reported in the literature appear so inconsistent.

Humans↗
PubMed1976

Frequency of chromosomal fluorescence polymorphism in normal persons and in clinical patients with diagnosed chromosome aberrations.

By means of a computer program the frequencies of the strongly fluorescent polymorphous chromosomal segments on chromosomes Nos. 3, 4, 13, 14, 15, 21, and 22 among 89 random normal persons and 247 persons suspected of having various chromosome aberrations were determined. It was discovered that: 1. In none of the 13 diagnosis categories are divergencies in frequency of autosomal fluorescence polymorphism, as compared to the normal group, statistically determinable. 2. A worthwhile comparison of the various frequencies of fluorescence polymorphism as recorded by the various investigators in not possible at present, since the applied methods of assessment differ too widely. 3. Standardization of the criteria of assessment and of the nomenclature for the polymorphous chromosomal segment would seem to be a matter of urgent necessity.

Chromosome Aberrations↗
PubMed1976

The effect of steroid hormones on motility and selective migration of X- and Y-bearing human spermatozoa.

Motility and selective migration of X- and Y-bearing human spermatozoa were studied in the presence of physiologic levels of sex steroid hormones (17beta-estradiol; estriol, 0.5 ng/ml; testosterone; progesterone; lynestrenol; and norgestrel, 5 ng/ml) and 200-fold higher concentrations. Estrogens and, to a smaller extent, testosterone accelerated spermatozoal migration, while gestagens had an inhibitory effect. 17beta-Estradiol was most effective in stimulating the motility of human spermatozoa, while norgestrel caused the strongest inhibition of forward movement. Migration of X- and Y-bearing spermatozoa was most significantly altered after longer distances of migration, shown by an increase in the percentage of Y-bearing spermatozoa from 43.7% to 63.3% at a distance of 90 mm. However, prolongation of migration time to 36 hours caused a reduction in the percentage of Y-bearing spermatozoa at the 90-mm distance, from 63.3% to 46%. Specific differential effects of sex steroid hormones on the pattern of selective migration and the distribution of X- and Y-bearing spermatozoa were not observed.

Estradiol↗
PubMed1975

[Behavior of lactate and pyruvate as well as lactate/pyruvate quotient in blood in human thyroid gland disorders].

The pyruvate and lactate levels in blood of patients with thyroid diseases were investigated and also the lactate/pyruvate ratio. The levels of pyruvate were significantly elevated in hyperthyreotic patients in comparison with the euthyreotic control group; in hypothyreotic patients the levels were lowered. Only in hypothyreotic patients the lactate level was slightly increased. In all the three groups the lactate/pyruvate ratio showed highly significant differences, in hyperthyreosis decreased, in hypothyreosis increased in comparison with normal subjects. In patients suffering from hyperthyreosis as well as in cases with euthyreotic goitre we found similar pyruvate levels and lactate/pyruvate ratios as in the hyperthyreotic cases. It seems likely to be an inexpected effect of the treatment with pure triiodothyronine or triiodothyronine/thyroxine in combination.

Adolescent↗
PubMed1975

Familial balanced (7;11;21) translocation and Down's syndrome in two siblings.

Cytogenetic studies of a family with two children with Down's syndrome have revealed a balanced reciprocal translocation between chromosomes No. 7, 11 and 21 in the mother. One of three daughters has inherited this translocation. two mongoloid daughters have a supernumerary chromosome No. 21 in addition to the translocation.

Adolescent↗