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Biomedical subjects

L Pelz

Publications and source records attributed to L Pelz.

At least 37 records · Page 2Linked to original sources

[The intermamillary index of newborn infants].

Using 500 healthy newly born babies age specific standard for intermamillary index was defined in order to improve objective criteria for the clinical features of 'widely spaced nipples' as it is to realize in connection with a variety of complex morphogenetic disturbances. Independent of sex and of post natalage the mean value is y mean = 23.31 and the standard deviation s = +/- 1.24. Consequently, the normal +/- 2s range is to be appraised between 21.0 and 26.0. In small-for-gestational-age infants and in babies born by breech presentation the + 2s limit is reduced to 25.0.

Anthropometry↗

[Ullrich-Turner syndrome and anorexia nervosa--an association?].

It is reported about the clinical progress of a 15 years old girl suffering from anorexia nervosa with Ulrich-Turner's syndrome. Etiological aspects are discussed. It is derived from calculations that there is a suspicious fact of an association of both disorders.

Adolescent↗

[Cytogenetic detection of Prader-Willi syndrome in infancy].

In the case of characteristic chromosomal deletion of chromosome 15(q11----q13) the diagnosis of the Prader-Willi syndrome can be already confirmed in early infancy as shown in our case report. In this connection cytogenetic high-resolution techniques are indispensable. Cytogenetic and clinical problems are discussed.

Chromosome Banding↗

[Familial Noonan syndrome].

A family with Noonan syndrome is described. The expressivity of the clinical feature is identical in all the cases observed. The importance of interdisciplinary and prospective medical care is emphasized.

Adult↗

Increased methotrexate-induced chromosome breakage in patients with free trisomy 21 and their parents.

Increased susceptibility of chromosomes from peripheral blood lymphocytes to the antimetabolite methotrexate (2 X 10(-6) M) has been found in patients with free trisomy 21 and their parents (N = 14). The level of induced chromatid and chromosome breaks is lowest in normal controls intermediate in patients' mothers and fathers, and highest in trisomy 21 patients. The findings are viewed as a special type of cytogenetic polymorphism or as a defective chromosomal infrastructure, also in the parents of trisomic children.

Adult↗

Isochromosome (18q) in siblings.

A report is presented on a familial occurrence of isochromosome (18q) in a newborn infant and in a fetus in the 24th week of gestation after amniocentesis.

Abnormalities, Multiple↗

[Effect of mestranol and chlormadinone acetate on basal and TRH-stimulated PRL secretion in Turner's syndrome].

In 19 patients aged from 12 to 24 years (average age 17.0 years) with Turner's syndrome the influence of mestranol and chlormadinone acetate on both basal and TRH stimulated PRL secretion was investigated by means of sequential stimulation test (0.5 g arginine hydrochloride/kg body weight, 25 micrograms GnRH and 200 micrograms TRH). This test was performed before, during the third until 5th cycle of treatment and 4 month after the end of therapy. PRL levels were determined by RIA. In most patients under treatment both basal and stimulated PRL showed an increase within the normal range. Hyperprolactinemic levels could be observed on one patient only.

Adolescent↗

Neonatal intensive care does not cause chromosome damage.

In three neonatal units a total of 30 gravely ill newborn infants requiring intensive care were investigated cytogenetically. The results were compared with those obtained in 28 matched control neonates. No significant difference in the frequency of chromosome breaks, gaps, satellite associations, and sister chromatid exchange was found between the two groups of neonates.

Birth Weight↗

Body height in Turner's syndrome.

Disease-specific growth curves for Turner's syndrome were calculated by means of 2nd order homogeneous differential equations with constant coefficients, taking different cytogenetical subtypes into account. Comparison of these growth curves between X-monosomic (n = 64) and 46,XX/45,X-mixoploid (n = 20) patients reveals no differences, in contrast to the commonly accepted opinion.

Body Height↗

[Behavior of the hypothalamo-hypophyseal axis in a patient with asymmetric mixed gonadal dysgenesis (chromosome pattern 45,XO/46,XY) before and after gonad excision after with arginine, GRH and TRH stimulation].

In a 12 years old patient with asymmetric mixed gonadal dysgenesis (karyotype 45, XO/46,XY) a stimulation test with arginine, gonadotropin-releasing hormone (GRH) and thyreotropin-releasing hormone (TRH) was performed before and after exstirpation of the gonads as well as after application of sex steroids. FSH, LH, PRL, HGH, TSH, testosterone and oestradiol were determined by radioimmunoassay. The results show an intact hypothalamo-pituitary axis which reacts with a normal negative feedback with respect to the secretion of gonadotropins after application of sex steroids.

Arginine↗