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Biomedical subjects

M Macek

Publications and source records attributed to M Macek.

At least 127 records · Page 7Linked to original sources

[Edwards' syndrome].

Two cases of Edwards' syndrome were observed. One occurred in a girl aged 6 months, the other in a male neonate. The two children showed a highly characteristic appearance of both the face and the extremities, so that it arouse suspicion of 18-chromosomy. The latter was confirmed by a postmortem cytogenetic examination. The syndrome also includes malformations of inner organs and microscopical architectural changes of organs, which occurred in both the cases described, but different in type.

Abnormalities, Multiple↗

Screening of amino acid enzymopathies in pregnancy and possibilities of their prenatal diagnosis.

The report discusses the first results obtained by chromatographic screening of the blood amino acids in pregnant women at the outset of pregnancy. Typical cases of maternal phenylketonuria and maternal hyperphenylalaninaemia found among 2,000 women examined are described in detail, giving a concise metabolic, clinical and genetic picture. The biochemical possibilities of diagnosing congenital disorders of amino acid metabolism before birth are also discussed.

Amino Acid Metabolism, Inborn Errors↗

Replication of cytomegalovirus in human epitheloid diploid cell line.

Human diploid BAMB cells with epitheloid morphology, which had been derived from amniotic fluid cells, were capable of supporting the replication of human cytomegalovirus (CMV), without prior treatment of the cells with halogenated pyrimidines. The growth of this virus in BAMB cells and in human diploid fibroblastoid (LEP) cells was compared in parallel tests. Virus replication was slower and less efficient in the former than in the latter system. The most characteristic morphological feature of the CMV-infected BAMB cells was the formation of multinucleated giant cells which frequently contained more than a hundred nuclei; such cells were not seen in LEP cultures. The development of ultrastructural changes was slower in BAMB cells than in LEP cells. The additional most marked differences concerned the place of viral envelopment and the production of cytoplasmic dense bodies. While in LEP cells most nucleocapsids were enveloped from the inner leaflet of the nuclear membrane, in the other system a great majority of the particles acquired their envelopes by budding into vacuoles. Cytoplasmic dense bodies were rare in infected LEP cells but very frequent in BAMB cells. Budding of these structures into vacuoles was also observed.

Cell Line↗