A new lethal syndrome with cloudy corneae,diaphragmatic defects and distal limb deformities

Summary Two female sibs are reported with a possibly new lethal malformation pattern, the major anomalies of which are: coarse face with small eyes and cloudy corneae, cleft soft palate, hypoplasia and absence of lobulation of both lungs, diaphragmatic defects, digitalisation of thumbs and distal limb deformities.     

A chromosomal abnormality (21q-) in primary thrombocytosis

Summary A patient with primary thrombocytosis was found to present an acquired deletion of the long arm of chromosome 21 (21q-). A similar observation reported in the literature is hereby confirmed.     

Qualitative and quantitative study of the growth and cell surface properties of Huntington's disease fibroblasts and age-matched controls

Summary Different growth-and cell surface properties of cells grown from skin biopsy samples from 25 Huntington's chorea patients, 22 at risk patients, and agematched controls were examined in a blind study. The number of explants obtained from each biopsy was carefully controlled. The nature (epithelial or fibroblastic) of the initial outgrowth was scored on all explants and the mean number of cells obtained from each explant after 3 weeks in culture was determined after trypsinization. During the next 15 passages, various parameters characterizing cell growth were studied. Maximal cell densities and growth rates were examined using a standard plating density of cells at each passage. These growth properties were also examined in three media: DME-NCS, DME-FCS, and Ham's F10 fetal calf serum (FCS). In addition, the effects of high temperature (40°C) and the addition of insulin to the medium on the growth and protein content of the cells was examined. These results, containing 152 measurements on 81 cases, were examined using a phased multivariate analysis. Blind cluster analysis showed that the clusters were nonrandomly determined. Factor analysis indicated the initial growth parameters to be among the most discriminating. Discriminant analysis, however, did not prove to be of any diagnostic use, since the external factors masked any possible genetic difference. Two possible sources of bias were identified: the size of the biopsy and the type of culture medium. The cell surface properties of HD and control fibroblasts were further investigated using two different techniques. The adhesion of single HD cells to either HD cell layers or normal cell layers revealed no significant differences. Intradermal immunization of rabbits with whole fibroblasts resulted, with both cell lines, in a polyspecific antiserum containing antibodies directed against a number of surface components. When HD and control fibroblasts were compared with the two antisera, no qualitative or quantitative differences in the precipitation patterns obtained using crossed immunoelectrophoresis, (CIE) were found. Our investigations did not allow us to discriminate HD cultures from controls by any of the qualitative and quantitative parameters tested.     

Binding of labeled initiation factor IF-1 to ribosomal particles and the relationship to the mode of IF-1 action in ribosome dissociation.

The binding of labeled initiation factor IF-1 to ribosomal particles has been studied in relation to the mode of action of this factor in the dissociation of 70-S ribosomes. It is demonstrated that IF-1 interacts specifically with active 70-S tight couples and free 30-S subunits. The binding of IF-1 to both 70-S and 30-S particles is not influenced by the Mg2+ concentration and the affinity of the factor for both particles is about the same. The interaction of IF-1 with these particles is highest at low Tris-HCl concentrations. Under these conditions IF-1 shows a slight dissociating activity. Using 3H-labeled IF-1 and 14C-labeled IF-3 the formation of a 30-S-subunit.IF-1 . IF-3 complex from 70-S ribosomes is demonstrated. Our studies show that IF-3 enhances the binding of IF-1 to the 30-S subunit. In contrast to IF-1, which binds about equally well to 70-S and 30-S particles in the absence of IF-3, 14C-labeled IF-3 binds predominantly to the 30-S subunit. This finding confirms the view that IF-3 acts as an anti-association factor. On the other hand, IF-1 enhances the supply of 30-S subunits in the presence of IF-3 by acting on the 30-S moiety of the 70-S ribosome.