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Biomedical subjects

W Schmid

Publications and source records attributed to W Schmid.

At least 271 records · Page 15Linked to original sources
PubMedDate not supplied

Prenatal diagnosis of anhidrotic ectodermal dysplasia.

This paper reports on successful prenatal diagnosis of X-linked anhidrotic ectodermal dysplasia (AED) by means of light and electron microscopy on fetal skin biopsies obtained under fetoscopy. In the present family two brothers of the proband were severely affected with the full symptomatology of AED, the pregnant female and her mother revealed minor symptoms with patches of skin lacking vellus hair. Control of lesional skin of the affected family members by electron microscopy revealed no ultrastructural abnormalities. However, all biopsies lacked skin appendages including hair follicles, sebaceous glands, and sweat glands. The lack of pilosebaceous follicles can be used as a diagnostic criterion since these structures are fully developed in normal fetuses of 20 weeks whereas the development of sweat glands does not start before week 20 to 24 of fetal life. Skin biopsies were taken from various regions of the fetus at risk via fetoscopy in week 20 and processed for light and electron microscopy. All samples revealed complete absence of all skin appendages in contrast to a total of 61 non-AED fetuses. Thus positive prenatal diagnosis of AED was made and the pregnancy was terminated. Control investigations after abortion confirmed the diagnosis.

Adult↗
PubMedDate not supplied

Partial trisomy 3q in a newborn female.

Partial trisomy 3q was observed in a newborn female with multiple malformations, who died in the first month of life. A balanced translocation t(3q--;15p+) was present in the mother and in other family members. The correlation between the cytogenetical and the clinical aspects is briefly discussed.

Abnormalities, Multiple↗
PubMedDate not supplied

In vivo protein-DNA interactions in a glucocorticoid response element require the presence of the hormone.

Transcriptional activation of gene expression by glucocorticoid hormones is mediated by the interaction of hormone-receptor complexes with specific DNA sequences called glucocorticoid responsive elements (GREs) (refs 1-3, see ref. 4 for review). Deletion of this sequence abolishes glucocorticoid induction of transcription. According to a current model, activation of the cytoplasmic receptor protein by hormone binding leads to its increased affinity for and translocation to the nucleus. However, recent reports that the oestradiol and progesterone receptors are localized in the nucleus in the absence of steroid led us to examine whether the free receptor interacts in vivo with its DNA binding site in the absence of hormone binding. We used the genomic footprinting technique to show that changes in in vivo protein-DNA interactions within the GREs of the tyrosine aminotransferase gene (TAT) can be detected only after hormone treatment in hepatoma cells. Such changes are not detected in fibroblast cells, in which the TAT gene is not expressed. Many of the changes in dimethylsulphate reactivity observed in the living cell are also found in vitro using cloned DNA and a partially purified glucocorticoid receptor.

Animals↗
PubMedDate not supplied

[Comparative experimental studies on reconstructive miniplates].

In an experimental study reconstructive miniplates consisting of 1.0 mm thick stainless steel and 1.27 mm thick pure titanium were comparatively examined. Plate stress trials showed better results for stainless steel in tension, and at the same time better results for titanium plates in bending trials over the edge and the plane. In lever trials of second order titanium plates showed equal or better results when used for reconstructing lower jaw specimens and plastic models. Our experimental results lead to the conclusion, that the plates tested can guarantee exercise stability of lower jaw reconstructions during the primary healing phase. Considering their more favorable E-modulus and better biocompatibility the new titanium miniplates with the dimensions mentioned are superior the stainless steel miniplates in the fixation of lower jaw grafts.

Bone Plates↗
PubMedDate not supplied

[Factors in craniomandibular asymmetry: diagnostic principles and therapy].

A craniomandibular structural asymmetry can be congenital or hereditary in nature, or can be acquired from traumatic of infectious events. During growth quantitative and qualitative alterations of the functional loads applied to the bones may modify their developmental pattern and lead to asymmetry: this has been show extensively through animals experiments. On the other hand, occlusal alterations may lead to mandibular displacement in maximum intercuspidation (ICP) and, consequently, to an apparent asymmetry. Therefore a distinction can be drawn among: 1) structural asymmetries; 2) displacement asymmetries; 3) mixed types. The different types of asymmetry may be diagnosed through the integrated analysis of the data from clinical examination, TMJ radiographs, teleradiographs and cephalometric analysis. A system is also presented, that analyzes the symmetry degree through Computer Aided Design. The purpose of treatment and the consequent treatment modalities vary in function of the type of asymmetry and the patient's age. When a mandibular displacement is present, it should be treated independently from the patient's age. However, if structural asymmetry is present, the treatment modalities depend on the patient's age. In the growing individual it is possible to exploit the potential modeling during growth and to modify through orthopedic means the residual growth of the patient. However, in the adult patient structural asymmetry can not be managed any more through conservative orthopedics.

Adolescent↗