[Congenital dyserythropoietic anemia]. / Kongenitálna dyserytropoetická anémia.

The author submits the history and classification criteria of congenital dyserythropoietic anaemia and presents at the same time an observation of one of his female patients who was originally dispensarized as hereditary spherocytosis. Failure of splenectomy led to revision of the finding in bone marrow and a change of diagnosis to congenital dyserythropoietic anaemia type II. The patient died at the age of 27 years from hepatic failure as a result of haemosiderosis.

[A case of Pelger-Huet anomaly in a premature infant]. / Erworbene Pelger-Huëtsche Anomalie bei einem Frühgeborenen.

The report deals with a prematurely born child affected with multilateral anomalies of body development, defect of cell immunity and acquired Pelger-Huët's anomaly. Pelger-Huët's anomaly was detected in a blood smear during the third week of life by an extreme deviation to the left, the degree of which fluctuated, however, depending on the reiterating exacerbations of the infect. The morphological changes of blood elements persisted until exitus letalis in a severe respiratory infect. The changes of the karyotype and possible relations to Pelger-Huët's anomaly and malformations of development are discussed in detail.

[Polydactyly in the Pelger-Huet anomaly]. / Polydaktylie bei der Pelger-Hüetschen Anomalie.

The present paper is concerned with a report on a kin affected with Pelger-Huet's anomaly (PHA). 17 living heterozygous carriers of the anomaly are covered by the pedigree. Three further dead carriers of anomaly could be detected by genealogical studies. Polydactylia was found in three members of the kin, viz. in two sisters and a niece of second degree. Polydactylia could be found to have occurred at the same place in all these three persons concerned, with only one of them being a carrier of PHA: in all cases it was the doubling of the fifth toe of the right leg. This localisation of the same kind favours the assumption that this malformation is caused by genetics, however, without its having any genetical connection with PHA. The hypothesis was put forth that an enzyme defect is responsible for this hyposegmentation which simultaneously could have an impact on further elements of the mesenchymal tissue playing an important part in the histogenetic differentiation of organs.

The regulation of extrajunctional acetylcholine receptors in the denervated rat diaphragm muscle in culture.

The regulation of the number of extrajunctional acetylcholine (ACh) receptors was assayed by 125I-labelled alpha-bungarotoxin binding sites in denervated rat diaphragm muscle in culture. Sustained K depolarization does not eliminate extrajunctional ACh receptors. In fact, muscle cultured in high-K medium (normal Cl) for 3 days exhibits a greater binding capacity than controls. Under conditions in which the intracellular Cl concentration is unaltered (high-K-low-Cl medium) this effect of high-K medium on the number of extra-junctional ACh receptors is blocked. The number of extrajunctional receptors increases 24-48 h after exposure to high-K-normal Cl medium, similar to the time course of the initial appearance of extrajunctional receptors in the denervated diaphragm muscle in vivo or in organ culture in normal media. High-K-normal Cl medium did not alter the rate of receptor degradation. Electrical stimulation of denervated muscle strips cultured in low-Ca medium containing D-600 eliminated extrajunctional receptors as efficiently as stimulation of muscles in control medium. Electrical stimulation did not reduce the extrajunctional ACh receptor population in glycerol-treated uncoupled muscles to the same extent as in untreated muscles. The extrajunctional ACh receptor content of denervated muscle cultured for 3 days in 2 and 5 mM-caffeine was reduced by about half respectively. Denervated muscle cultured in 0.3 mM-caffeine did not differ from control denervated muscle. Other agents which may alter intracellular cyclic nucleotide levels: dibutyryl cyclic GMP, dibutyryl cyclic AMP, papaverine, and sodium nitroprusside, did not mimic the effect of caffeine or electrical stimulation in lowering the levels of extrajunctional ACh receptors. We conclude that intracellular Ca release from the sarcoplasmic reticulum is necessary for the elimination of extrajunctional ACh receptors in denervated muscle. The levels of intracellular Cl also influence the population of extrajunctional receptors. Conditions which lead to higher levels of intracellular Cl result in greater rates of synthesis of ACh receptors.