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Biomedical subjects

L Pelz

Publications and source records attributed to L Pelz.

At least 19 recordsLinked to original sources
PubMed1996

Informative morphogenetic and phenogenetic variants in children with cleft lip/cleft palate.

In 230 patients with nonsyndromic cleft lip/cleft palate (138 boys and 92 girls) and in 226 age related healthy children (137 boys and 89 girls) informative morphogenetic and phenogenetic variants (IMV and PHV, respectively) were investigated. There was no difference between the number of IMVs between both groups (chi 2 = 5.89; d.f. = 3; alpha > 0.70). This finding is in line with the hypothesis that facial cleft disorders occur during blastogenesis, whereas IMVs and PHVs are typical patterns of the embryo- and fetogenesis. The anthropometric findings are contradictory. In a few non-craniofacial phenogenetic variants significant differences were found between the patients and the healthy children. Intrinsic factors or secondary sequelae of the primary defect might additionally act in the morphological fine tuning of children with single cleft lip/cleft palate.

Adolescent↗
PubMed1996

Sexual maturation in East German boys.

According to the internationally accepted classification, sexual maturation was investigated in 8685 healthy East German boys by means of the status quo method and the probit regression analysis. The 3rd, 50th and 97th centiles were calculated for the development of both the male external genitalia and pubic and axillary hairs. The findings are in line with those of recent studies from different European countries. Special attention was paid to the stages at the beginning and at the end of sexual maturation, e.g. B 2, B 5; AH2, AH3; PH 2, PH5/6, etc.

Adolescent↗
PubMed1995

Auriculocephalic index: a new anthropometric index for syndrome delineation.

We describe a new anthropometric index, the "auriculocephalic index." It results from the ratio between the length of auricle and the corresponding preauricular head height. The index is independent of sex and of age. Normally it ranges between 0.25 (-2s) and 0.33 (+2s). In syndrome delineation it may help to diagnose more precisely large or small auricles as phenogenetic variants.

Adolescent↗
PubMed1995

Sexual maturation in East German girls.

According to the internationally accepted classification (Tanner, 1962; van Wieringen, 1971), sexual maturation was investigated in 8703 healthy East German girls by means of the status quo method and probit regression analysis. The third, 50th and 97th centiles were calculated for the development of breasts, axillary and pubic hair, and the shape of the hips. The findings were compared with those of recent studies from different European countries. Special attention was paid to the stages at the beginning and at the end of sexual maturation, e.g. B2/B5, AH2/AH3, etc.

Adolescent↗
PubMed1991

Delayed spontaneous pubertal growth spurt in girls with the Ullrich-Turner syndrome.

By means of an appropriate mathematical model (Sager's 2-components-concept) a delayed spontaneous pubertal growth spurt can be demonstrated in girls with 45,X Ullrich-Turner syndrome (UTS) (n1 = 45) as well as in those with 45,X/46,XX mosaicism (n2 = 14) never treated with any growth stimulating drug. On the average, this growth spurt begins later and its extent is smaller (mean growth rate = 3.10 and 2.79 cm, respectively, in the 15th year of chronological age) than in normal girls. The delay in acute growth spurt corresponds very well to the delay of skeletal maturation in the UTS (on the average 2 to 3 years of chronological age).

Adolescent↗
PubMed1991

A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p.

To identify by reverse genetics genes on the short arm of human chromosome 7 expected to be involved in the regulation of human craniofacial and limb development, we have set up a human mouse somatic cell hybrid panel that divides 7p into 9 fragments. The breakpoints are defined by deletions or translocations involving one chromosome 7 in the cells of the human cell fusion partners. Particularly densely covered with these cytogenetic anchor points is the proximal area of 7p within and around 7p13. The number of cytogenetic mapping points within proximal 7p could be increased by four, using two diploid human cell lines with small interstitial deletions in this region for dosage studies. We used Southern blots of this panel to assign to 7q or subregions of 7p more than 300 arbitrary DNA probes or genes that provide reference points for physical mapping of 7p. Three reciprocal translocations with one of the breakpoints in 7p13 mark the location of a gene involved in Greig cephalopolysyndactyly syndrome. To define an area in which we could identify candidates for this developmental gene, we established a macrorestriction map using probes flanking the putative gene region. The Greig translocations were found to be located within a 630-kb NotI restriction fragment.

Animals↗
PubMed1990

[Clinical evaluation of testicular size in boys and adolescents].

On 596 healthy boys and adolescents from 4 to 17 years of age measurements of the length and the width of the left testis as well as of the thickness of scrotal skin were carried out by means of a caliper, and the testis volume was secondarily calculated. Age specific mean values (means) and their +/- 2 s-limits are listed. Nonlinear s-shaped regression lines of the three main parameters clearly underline that the greatest increase is to be found in the length of testis. Consequently, as an indicator for gonadal developmental disturbances instead of testis volume measuring of testis length is recommended for routine in the physical examination of inpatients and outpatients as well as for the screening of schoolboys and male teenagers.

Adolescent↗
PubMed1990

[Clinical assessment of ear size in children and adolescents].

In 1271 children and adolescents of both sexes (596 boys and 675 girls) anthropometric measurements of the "physiognomic external ear length and ear width" were carried out by means of a caliper in order to make the clinical symptoms of macrotia and microtia, respectively, more objective than by clinical impression, only. In the mean ear lengths steadily and annually grow 0.66 mm in boys and 0.46 mm in girls, +/- 2s-border-lines based on a nonlinear regression model y = f(means +/- 2s) = a + b.ln x are calculated: For boys it is y + 2s = 47,9164 + 6,9539.ln x and y-2s = 36,7839 + 6,1172.ln x, respectively, for girls the regression equations are as follows: y + 2s = 49,1431 + 5,6002.ln x and y-2s = 41,3945 + 3,2266.ln x. The approximation of the regression model to the data observed is highly significant (alpha less than 0.0005). In contrast to the auricle length "physiognomic external ear width" is independent of age in both sexes, namely in boys means = 32.89 +/- 0.1176 mm and in girls means = 31.21 +/- 0.0876 mm. All sex differences are highly significant (alpha less than 0.0005).

Adolescent↗
PubMed1989

[A staged plan for laboratory diagnosis of hereditary metabolic diseases].

When clinical evidence provides grounds for suspecting inborn errors of metabolism it is urgent to perform the necessary, relevant, specific laboratory investigations in good time and with a view to quality. Normally, the realization depends on individual initiatives and the use of laboratories mainly designed for pediatrics and human genetics. Consequently the results are equally a matter of chance. Nothing in this situation can be changed in principle by using the catalogue of services of the Society for Human Genetics of the GDR. Central administrative provisions are necessary to improve the present unsatisfactory situation. Proposals for regulations, division of responsibility and a graduated programme of parameters are discussed here with a view to establishing uniform procedures.

Child↗