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H Traupe

Publications and source records attributed to H Traupe.

At least 37 records · Page 2Linked to original sources
PubMed1995

[Craniocerebral trauma in childhood].

Depending on the clinical symptomatology, computed tomography (CT) is the predominant examination technique. CT reliably shows live-threatening intra- or extracerebral hemorrhage. Typical localization and distribution of blood allow differentiation between extradural and/or subarachnoidal effusion. Dislocation of the midline structures or of cortical relief shows the mass effect of intracranial hemorrhage. In many cases localized edema can be identified, but because of the normally very narrow cortical sulci in children and younger people, the general post-traumatic brain swelling is often diagnosed only retrospectively. Magnetic resonance tomography is more sensitive than CT concerning subtle changes in the depth of the white matter and should be used for follow-up studies as a supplementary examination.

Brain↗
PubMed1994

Unstable pre-mutation may explain mosaic disease expression of incontinentia pigmenti in males.

Mosaic skin lesions following the lines of Blaschko are found in boys affected by incontinentia pigmenti (IP). For an X-linked gene defect, this is rather surprising. To explain the mosaic disease expression of IP in males, we propose that the disease is caused by an unstable pre-mutation, which normally remains silent in males during early embryogenesis. Occasionally "silencing" is incomplete and gives rise to clinical manifest IP reflecting a mosaic state of alleles with the full and the pre-mutation in the same patient. This model can account for mother-to-son transmission of IP and for disparate phenotypes in monozygotic female twins.

Child↗
PubMed1994

Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.

Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant skin disorder that resembles epidermolytic hyperkeratosis (EHK). We have identified mutations in two families originally diagnosed with EHK and in four families diagnosed with IBS at the same codon in the highly conserved carboxy terminal of the rod domain of keratin 2e, thus revealing a mutational hot spot. Our results allow a differential diagnosis to be made between IBS and EHK at the genetic level and we suggest that patients diagnosed with EHK, but lacking keratin K1 or K10 mutations, should be re-examined for mutations in their K2e genes.

Adult↗
PubMed1994

Expression of tenascin, biglycan and decorin in disorders of keratinization.

The distribution of three (recently discovered) extracellular matrix components (tenascin, biglycan and decorin) was studied in normal adult human skin and in a number of monogenic disorders of keratinization, using immunohistology. The expression of tenascin, which is sparsely distributed in normal human dermis, was found to be grossly increased in epidermolytic hyperkeratoses and in Darier's disease. Tenascin expression in three types of ichthyosis (X-linked recessive ichthyosis, autosomal dominant ichthyosis vulgaris, non-erythrodermic lamellar ichthyosis) was similar to that of normal skin. The presence of biglycan and decorin did not show a marked variation between the different disorders studied, suggesting that their expression is subject to regulatory mechanisms distinct from those of tenascin. The increased expression of tenascin in two disorders of keratinization with a hyperproliferative phenotype, lends further support to the hypothesis that dermal tenascin expression is increased as a result of epidermal hyperproliferation.

Biglycan↗
PubMed1993

[The diagnostic role of contrast medium-enhanced MR tomography in the diagnosis of the post-diskectomy syndrome. A prospective study of 109 patients].

In a prospective study, 132 previously operated disc levels in 109 patients with failed back surgery syndrome (FBSS) were examined by MR imaging before and after intravenous application of a contrast agent (0.1 mmol Gd-DTPA/kg). The results were compared with current CT findings in 47 cases. The images were randomized and independently assessed by two experienced radiologists. A second intervention of a total of 30 disc levels was performed in 28 patients. Contrast-enhanced-MR imaging (CE-MRI) improved the differentiation of scar from recurrent disc herniation (RDH) compared to plain MRI and CT. Agreement between the two readers was significantly higher for CE-MRI than for the other two procedures (p < or = 0.001). CE-MRI additionally had the highest diagnostic accuracy (p < or = 0.001). The preoperative diagnosis made by CE-MRI was confirmed in 27 (90%) of the reoperated disc levels. Quantitative evaluation showed that there was no contrast enhancement in RDH as opposed to pronounced enhancement of 122% in scars (p < or = 0.001). Evaluation with respect to scar age revealed a significant difference (p < or = 0.01) in contrast enhancement between scars less and more than 2.5 years old.

Adolescent↗
PubMed1993

[Incontinentia pigmenti in a male infant].

Bloch-Sulzberger incontinentia pigmenti (IP) is a rare X-linked neuroectodermal syndrome. Over 97% of the patients are female. We report on a male baby who developed blisters in linear groups or bands shortly after birth. When the child was 3 months old the blisters were followed by verrucous papules, which cleared after 1 year leaving areas of brownish grey hyperpigmentation. In addition to the skin involvement, our patient showed central motor dysfunction on the right side of the body and also dental and ocular anomalies. Both parents were in good health. Chromosome analysis yielded a normal karyotype (46, XY). The genes for coagulation factor VIII and biglycan in the Xq28 region were not deleted. The presence of the disease in this male infant may be due to an early somatic mutation or a half-chromatid mutation. A further possibility is mosaic expression of an unstable premutation. This model offers a good explanation for the reports in the literature of transmission of the disease from mother to son.

Diagnosis, Differential↗
PubMed1993

[Basic requirements of a radiology information system (RIS)].

One of the most important problems in medicine today is quality control and the achievement of a cost-benefit analysis in the areas of both treatment and diagnosis. With modern software techniques, complex relations between medical and administrative data can be shown up and analysed. Preconditions are a vocabulary that can be processed by computer for medical facts and decisions and a database system capable of collecting a large amount of heterogeneous data and costing everything precisely. We have developed an object description language and, on the basis of the relational database approach, a complex system covering most aspects of medical and administrative data handling in radiology. The basic demands and elements of modern information handling in radiology are described and discussed.

Humans↗
PubMed1992

Psoriasis vulgaris, fetal growth, and genomic imprinting.

We report on 2 independent lines of evidence suggesting genomic imprinting of a major gene for psoriasis vulgaris. First, the birth weight of children from psoriatics is influenced by the sex of the psoriatic parent. Children from fathers with psoriasis are considerably (270 g) heavier than children from mothers with psoriasis (P less than 0.004). Second, the disease manifestation (penetrance) depends in part on the sex of the psoriatic parent. Offspring from fathers with psoriasis and male "gene carriers" are significantly (P less than 0.015 and P less than 0.007) more often affected than offspring from mothers with psoriasis and female "gene carriers." Of 91 grandchildren with psoriasis 59 (65%) have an affected grandfather and 32 (35%) a psoriatic grandmother. This deviation from the expected distribution is significant (P less than 0.04). Genomic imprinting is considered a special case of epigenetic modification. We propose that epigenetic modifications of a major predisposing gene in somatic tissues could cause differences in disease activity of psoriasis and could account for the often unpredictable clinical course the disease takes.

Birth Weight↗
PubMed1992

Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.

Homology with the mouse bare patches mutant suggests that the gene for the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature syndrome (Happle syndrome) is located in the human Xq28 region. To test this hypothesis, we performed a linkage study in three families comprising a total of 12 informative meioses. Multiple recombinations appear to exclude the Xq28 region as the site of the gene. Surprisingly, multiple crossovers were also found with 26 other markers spread along the rest of the X chromosome. Two-point linkage analysis and analysis of recombination chromosomes seem to exclude the gene from the entire X chromosome. Three different mechanisms are discussed that could explain the apparent exclusion of an X-linked gene from the X chromosome by linkage analysis: (a) different mutations on the X chromosome disturbing X inactivation, (b) metabolic interference, i.e. allele incompatibility of an X-linked gene, and (c) an unstable pre-mutation that can become silent in males. We favour the last explanation, as it would account for the unexpected sex ratio (M:F) of 1.2:1 among surviving siblings, and for the striking clinical variability of the phenotype, including stepwise increases in disease expression in successive generations.

Body Height↗
PubMed1992

Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel.

Human biglycan is a small proteoglycan that is expressed at high levels in the growing skeleton and in human skin at the cell surface of differentiating keratinocytes. The human gene for biglycan (BGN) has previously been mapped by in situ hybridization to the Xq27-q28 region. Employing somatic hybrid cell lines with human X chromosome breakpoints within this region, we performed a fine mapping of the gene within Xq28. Our results indicate that the biglycan gene is proximal to the red/green cone pigment genes, G6PD, and coagulation factor VIII and is distal to DXS304, DXS305, and GABRA3. The biglycan gene precisely maps to a region of the X chromosome, where, by comparative gene mapping, one would expect to find the gene for X-linked dominant chondrodysplasia punctata/ichthyosis/short stature (Happle) syndrome. Hence, BGN is a candidate gene for the Happle syndrome.

Animals↗
PubMed1992

The genetic risk for alopecia areata in first degree relatives of severely affected patients. An estimate.

Substantial evidence indicates that genetic factors may have a role in the etiology of alopecia areata (AA). Most studies, however, provide only general information on the familial incidence but fail to specify family relationships. We therefore obtained information on the incidence of AA in first degree relatives of 348 severely affected patients. In 7% one of the parents was affected. Among the siblings of the patients 3% had developed AA, while AA was present in 2% of the children. Taking into account the age of the children, their lifetime risk was calculated to approach 6%. However, a severe type of AA is to be expected only in about 2% of the children. The degree of involvement observed in the patients did not influence the frequency and type of AA present in their first degree relatives.

Adolescent↗
PubMed1991

Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome.

We describe an 18-month-old male infant suffering from the ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome and further delineate the clinical phenotype. Severe retardation of growth and psychomotor development, chill-like seizures, bronchial asthma, urticaria, a proneness to skin infections and transient nail dystrophy observed in our patient are non-obligatory manifestations of this disorder. Histological examination of the atrichia revealed poorly developed, shortened hair follicles and a complete absence of sebaceous glands. The sex ratio of published cases suggests an X-linked recessive inheritance. The marked clinical variability of the IFAP syndrome might be the expression of a contiguous gene defect.

Alopecia↗