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Biomedical subjects

U Thies

Publications and source records attributed to U Thies.

31 records · Page 2Linked to original sources
PubMed1992

The pupillary light reflex. 1. Age-dependent and age-independent parameters in normal subjects.

A hundred and three normal subjects (14-75 years old) were examined with a modified infrared TV videopupillometer that had previously been developed. Maximal pupillary diameter (p less than 0.00001), pupillary diameter in percent of iris diameter (p less than 0.00001), maximal pupillary area (p less than 0.00001), latency time of the light reflex (p less than 0.00001), maximal contraction velocity (p less than 0.00002), contraction velocity at 1 s (p less than 0.00001) and dilatation velocity at 6 s (p less than 0.0001) are strongly age dependent. A statistical formula is given to allow the calculation of the exact percentile for every parameter. Parameters which are age independent if they are expressed in percent of the maximal pupillary area are contraction velocity at 1 s (r = 0.042, p = 0.68) and dilatation velocity at 6 s (r = -0.150, p = 0.13). They can be used if age-matched study groups are not available. Furthermore, it is shown that most parameters of the pupillary light reflex correlate significantly with each other. The highest correlations are found with the maximal pupillary area. Differences between sexes are not evident. It is thought that this infrared videopupillometry and the given data base are useful for further clinical studies to investigate the autonomic nervous system.

Adolescent↗
PubMed1991

Physical mapping of two Xp markers DXS16 and DXS143.

Lymphocyte karyotyping of an infant girl with the clinical features of microphthalmia, iridoschisis, goiter, hip joint dysplasia, labium synechia and craniotabes revealed an Xp deletion. The lymphocyte karyotypes of the parents were normal. Bromodeoxyuridine incorporation studies showed that, in 42 out of 43 metaphases, the deleted X chromosome was late replicating. In one metaphase, the normal X chromosome was observed to be allocyclic. Using DNA markers from the Xp22 region, the breakpoint was assigned distal to DXS16 (pXUT23) and proximal to DXS143 (dic56). Dosage intensity measurements confirmed that the STS gene and the DNA marker DXS31 were involved in the deleted area. Restriction fragment length polymorphism analysis revealed that the paternally derived X-chromosome was deleted.

Abnormalities, Multiple↗
PubMed1991

Holt-Oram syndrome in four half-siblings with unaffected parents: brief clinical report.

The Holt-Oram syndrome was diagnosed in four offspring of three mothers and the same unaffected father. One additional child lacked the characteristic clinical features of the Holt-Oram syndrome. In contrast to the general autosomal dominant inheritance with complete penetrance, our observation suggests a paternal mutation, resulting in mosaicism, probably restricted to the germline.

Abnormalities, Multiple↗
PubMed1991

Covariate-dependent age-at-onset distributions for Huntington disease.

A combined logistic regression and life-table analysis is presented on age-at-onset data for Huntington disease. Covariates included in the analysis were sex of the at-risk individual, parental age at onset, and sex of transmitting parent. Parental age at onset and parental sex were found to be significant covariates for age at onset in the offspring, and the appropriate logistic regression functions are calculated by maximum likelihood methods. These regression functions permit a more precise evaluation of carrier risks and likelihoods than hitherto was possible by simple computational means. We further introduce a novel method to account for sibship correlations in the significance assessment, using log-likelihood differences between different models.

Adolescent↗
PubMed1990

Prenatal diagnosis and postnatal follow-up of a child with two de novo unrelated balanced reciprocal translocations.

Two unrelated, apparently balanced, reciprocal translocations involving chromosomes 3 and 17, and 10 and 15 were found in cultured amniotic fluid cells from a 41-year-old 10-gravida. Chromosome analysis of peripheral blood lymphocytes of both parents revealed normal karyotypes. Post-partum examination of lymphocyte cultures from the proband confirmed the chromosome rearrangements. The child showed normal development during follow-up examinations up to the age of 4 years.

Adult↗
PubMed1983

[Postoperative treatment phases following the Cloward operation].

In this article, the experience gained in the postoperative treatment and care after ventral vertebral fusion (operation after Cloward) are presented. After a radicular or medullary decompression has been achieved by the surgical intervention, an individually adapted, symptom-centered physiotherapeutic exercise programme, a continuous observation of the neurological findings with roentgenological checking of the bony blocking process is carried out. The postoperatively established camp cravat is worn up to the roentgenologically verified incorporation of the dowel.

Cervical Vertebrae↗
PubMedDate not supplied

Prenatal diagnosis and fetopathological findings in a fetus with ring chromosome 18.

We report on a fetus with ring chromosome 18 and monosomy 18 mosaicism [mos 45,XX,-18/46,XX,r(18)] detected in cultured amniotic fluid cells at 15 weeks' gestation. Chromosome analysis of fetal blood, cultured chorionic villi and fetal fibroblasts confirmed the aberrant karyotype. The aberrant chromosome complement could not be detected in a short-term culture of chorionic villi (46,XX in 21 metaphases). These findings suggest that the aberrant karyotype was a postzygotic event. Fetal ultrasound was normal and the parents decided to terminate the pregnancy at 21 weeks' gestation. Autopsy revealed multiple abnormalities including facial dysmorphy, partial agenesis of the corpus callosum and an interatrial septal defect.

Adult↗
PubMedDate not supplied

Allele frequencies of DNA markers genetically linked to Friedreich ataxia in the German population.

Friedreich ataxia (FRDA) is a recessive neurodegenerative disorder affecting both central and peripheral nervous systems. The mutation was mapped to chromosome 9 by its tight linkage to the polymorphic loci D9S5 and D9S15. Using informative DNA markers the allele frequencies at these loci, in up to 84 unrelated healthy persons and in 16 FRDA patients of German origin, were determined. The comparison to data from other European populations did not reveal remarkable differences. No significant linkage disequilibrium could be observed between FRDA and the loci D9S5 and D9S15 in German families.

Alleles↗