Mosaicism in amniotic fluid cell cultures: Classification and significance

The last decade has witnessed increasing application of human cytogenetic technology to prenatal chromosome analysis. However, unlike the rather uniform peripheral blood T-lymphocyte system which has provided most of our experience in human cytogenetics, long-term amniotic-fluid cell cultures display extreme cellular heterogeneity and disproportionate growth of certain cell types as a consequence of clonal amplification. When they enter cell culture, many of these cells are approching the terminal stages of their respective life spans and may have accumulated chromosomal aberrations. Concern about the possibility of true fetal mosaicism seems warranted chiefly in situations were multiple colonies display potentially viable aberrations. Clonal analysis, preferable of multiple clonal types, and attention to details of clonal morphology are likely to minimize diagnostic errors and undue apprehension resulting from mosaicism in amniotic-fluid cell cultures.     

Observation of a nematic phase displayed by a polysiloxane with trinitrofluorenones as side groups

The synthesis and the results of the structural study of two copolysiloxanes with laterally fixed trinitrofluorenone (TNF) units is reported. The two copolysiloxanes having 2,4 ( 1a ) and 5,3 ( 1b ) dimethylsiloxane comonomer units per TNF side group differ significantly in their phase behaviour as evident from optical microscopy, differential scanning calorimetry and X-ray scattering: 1b shows a nematic mesophase whereas 1a is an amorphous material. The different phase behaviour is discussed in terms of microphase separation between the siloxane backbone and TNF side groups.     

The distribution of metastases in the liver

Summary Seventy-five livers with metastases were cut sagitally into 1 cm thick slices. A total number of 11,581 metastases sections was exactly mapped. There was an average of 154 metastases sections per liver. The average diameter of the metastases was 1 cm. 40% of the metastases reached to the hepatic surface, and 60% were invisible due to their deposition in the internal parenchyma. In 8% of the livers there were only superficial metastases (average 3.2 metastases), and in 12% were only deep metastases detected (average 2.6). The total number of superficial metastases increased with increasing diameter of the secondary tumors.An approximately homogeneous distribution of hepatic metastases within the liver parenchyma has been demonstrated.     

No evidence for chromosomal mosaicism in multiple tissues of 10 patients with 45 XO Turner syndrome

Why the frequency of spontaneous abortions among monosomy X conceptuses is 98 % while the postnatal course of Turner syndrome is relatively benign has not been understood. One explanation could be that mosaicism for a euploid cell line confers viability and that those 2 % of 45, XO zygotes surviving in utero have some degree of mosaicism. We thus reasoned that if the non-mosaic 45, XO karyotype is lethal, a thorough study of living Turner syndrome patients might reveal a much higher frequency of mosaicism than the 30–40 % reported. Ten adult women with a 45 , XO leukocyte karyotype were investigated, looking at five tissue types from all three germ layers: buccal mucosa and hair from ectoderm, urinary epithelium from endoderm and ectoderm, and lymphocytes and skin fibroblasts from mesoderm. We were unable to confirm mosaicism in these patients, although in 2 out of 10 there was the suggestion of a small percentage of euploid cells in skin and blood karyotypes.     

Induction of interferon in murine bone marrow-derived macrophage cultures by 10-carboxymethyl-9-acridanone

10-Carboxymethyl-9-acridanone (CMA) induced high titers of interferon (IFN) in murine leukocyte cultures. Thymocytes, lymph node, spleen and peritoneal exudate cells responded to CMA with IFN production. Pure macrophages derived from the bone marrow were the most efficient producers of CMA-induced IFN. The yields of IFN-α β in the macrophage supernatants depended on the concentration of the inducer and titers up to 3000 IU/ml were measured after exposure to the optimal dose (500 μg/ml). CMA was found to be the first low molecular weight compound that induced in vitro titers of IFN nearly as high as obtained after exposure to Newcastle disease virus, which is one of the most potent interferon inducers.     

Transgenic rat model of Huntington's disease

Huntington's disease (HD) is a late manifesting neurodegenerative disorder in humans caused by an expansion of a CAG trinucleotide repeat of more than 39 units in a gene of unknown function. Several mouse models have been reported which show rapid progression of a phenotype leading to death within 3-5 months (transgenic models) resembling the rare juvenile course of HD (Westphal variant) or which do not present with any symptoms (knock-in mice). Owing to the small size of the brain, mice are not suitable for repetitive in vivo imaging studies. Also, rapid progression of the disease in the transgenic models limits their usefulness for neurotransplantation. We therefore generated a rat model transgenic of HD, which carries a truncated huntingtin cDNA fragment with 51 CAG repeats under control of the native rat huntingtin promoter. This is the first transgenic rat model of a neurodegenerative disorder of the brain. These rats exhibit adult-onset neurological phenotypes with reduced anxiety, cognitive impairments, and slowly progressive motor dysfunction as well as typical histopathological alterations in the form of neuronal nuclear inclusions in the brain. As in HD patients, in vivo imaging demonstrates striatal shrinkage in magnetic resonance images and a reduced brain glucose metabolism in high-resolution fluor-deoxy-glucose positron emission tomography studies. This model allows longitudinal in vivo imaging studies and is therefore ideally suited for the evaluation of novel therapeutic approaches such as neurotransplantation.     

Zur Frage der Durchlässigkeit der Darmwand für Askarideneier bei Hunden

Zusammenfassung Mehrere Mitteilungen über ein Durchdringen von Helmintheneiern unter den Bedingungen einer Hyperalimentation durch die Darmwand in die Lymphgefäße wurden an 24 Hunden überprüft. Weder bei natürlich mit Spul- und Hakenwürmern befallenen Tieren noch nach Eingabe von großen Mengen Ascaris suum-Eiern konnten wir eine Durchlässigkeit der Darmwand für Eier dieser Parasiten feststellen.