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.     

Primary mesodermal dysgenesis of the cornea (Peters' anomaly) in two brothers

Summary In this report two brothers with a severe form of Peters' anomaly, i.e., primary dysgenesis mesodermalis of the cornea, are described. The thirddegree consanguinity of the parents is an additional argument for the autosomal recessive inheritance of this condition.     

Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis

Summary A male newborn with the typical Langer type of mesomelic dwarfism is presented. The finding of a variable degree of Madelung's deformity and mesomelic shortening in both parents and in the maternal family tends to support the hypothesis that this type of mesomelic dwarfism may be the clinical manifestation of a homozygous state for dyschondrosteosis.     

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.     

Tetraphocomelia and bilateral femorotibial synostosis. A severe variant of the thrombocytopenia-absent radii (TAR) syndrome?

In this report we describe severe tetraphocomelia with complete femorotibial fusion in a second trimester male fetus. The association of severe tetraphocomelia-femorotibial synostosis has previously been reported in three patients as examples of a severe variant of the thrombocytopenia-absent radii (TAR) syndrome. In the present fetus no morphological abnormalities of the megakaryocytes were detected. This observation is not in favour of the hypothesis that abnormalities of the primordial megakaryocytes may be causally related with the pathogenesis of the limb malformations as present in this syndrome.     

Libri novi

Sans résumé     

Short reviews

Milton M. Gordon, HUMAN NATURE, CLASS AND ETHNICITY. London and New York, Oxford University Press, 1978, 302 pp., £6.50, $11.95 ($3.50 paper).

June Teufel Dreyer, CHINA'S FORTY MILLIONS: MINORITY NATIONALITIES AND NATIONAL INTEGRATION IN THE PEOPLE'S REPUBLIC OF CHINA. Cambridge (Mass.) and London, Harvard University Press, 1976, 333 pp., £9.55.

W. Stanford Reid (ed), THE SCOTTISH TRADITION IN CANADA. Toronto, McClelland & Stewart, 1976, xi + 324 pp., $12.55.

I. H. Kawharu, MAORI LAND TENURE: STUDIES OF A CHANGING INSTITUTION. Oxford, Clarendon Press, 1977, 362 pp., £13.50.

David T. Wellman, PORTRAITS OF WHITE RACISM. London, Cambridge University Press, 1977, 254 pp., £9.50 (£4.00 paper).

Lucy Mair, AFRICAN KINGDOMS. Oxford, Clarendon Press, 1977, 151 pp., £3.95, (£1.95 paper).

Roger Scott, NORTHERN IRELAND: THE POLITICS OF VIOLENCE. Canberra Series in Administrative Studies 2., Canberra College of Advanced Education, 1977, 84 pp., n.p.

James A. Geschwender, CLASS, RACE AND WORKER INSURGENCY: THE LEAGUE OF BLACK REVOLUTIONARY WORKERS. London, Cambridge University Press, 1977, 249 pp., £8.50 (£3.50 paper).

Crawford Young, THE POLITICS OF CULTURAL PLURALISM. Madison, University of Wisconsin Press, 1976. 560 pp., £13.60.

D. C. R. A. Goonetilleke, DEVELOPING COUNTRIES IN BRITISH FICTION. London, Macmillan, 1977, 282 pp., £8.95.

M. M. Mahood, THE COLONIAL ENCOUNTER. London, Rex Collings, 1977, 210 pp., £4.75.

Brian V. Street, THE SAVAGE IN LITERATURE. London, Routledge & Kegan Paul, 1975, 207 pp., £5.75.     

Characterization of an ntrX Mutant of Neisseria gonorrhoeae Reveals a Response Regulator That Controls Expression of Respiratory Enzymes in Oxidase-Positive Proteobacteria

NtrYX is a sensor-histidine kinase/response regulator two-component system that has had limited characterization in a small number of Alphaproteobacteria. Phylogenetic analysis of the response regulator NtrX showed that this two-component system is extensively distributed across the bacterial domain, and it is present in a variety of Betaproteobacteria, including the human pathogen Neisseria gonorrhoeae. Microarray analysis revealed that the expression of several components of the respiratory chain was reduced in an N. gonorrhoeae ntrX mutant compared to that in the isogenic wild-type (WT) strain 1291. These included the cytochrome c oxidase subunit (ccoP), nitrite reductase (aniA), and nitric oxide reductase (norB). Enzyme activity assays showed decreased cytochrome oxidase and nitrite reductase activities in the ntrX mutant, consistent with microarray data. N. gonorrhoeae ntrX mutants had reduced capacity to survive inside primary cervical cells compared to the wild type, and although they retained the ability to form a biofilm, they exhibited reduced survival within the biofilm compared to wild-type cells, as indicated by LIVE/DEAD staining. Analyses of an ntrX mutant in a representative alphaproteobacterium, Rhodobacter capsulatus, showed that cytochrome oxidase activity was also reduced compared to that in the wild-type strain SB1003. Taken together, these data provide evidence that the NtrYX two-component system may be a key regulator in the expression of respiratory enzymes and, in particular, cytochrome c oxidase, across a wide range of proteobacteria, including a variety of bacterial pathogens.     

The emergence of neural activity and its role in the development of the enteric nervous system

The enteric nervous system (ENS) is a vital part of the autonomic nervous system that regulates many gastrointestinal functions, including motility and secretion. All neurons and glia of the ENS arise from neural crest-derived cells that migrate into the gastrointestinal tract during embryonic development. It has been known for many years that a subpopulation of the enteric neural crest-derived cells expresses pan-neuronal markers at early stages of ENS development. Recent studies have demonstrated that some enteric neurons exhibit electrical activity from as early as E11.5 in the mouse, with further maturation of activity during embryonic and postnatal development. This article discusses the maturation of electrophysiological and morphological properties of enteric neurons, the formation of synapses and synaptic activity, and the influence of neural activity on ENS development.