Biomedical subjects
Publications and source records attributed to J Mücke.
Trisomy 9p with de novo 9/15 translocation and 9p isochromosome was observed in a mentally defective boy with typical clinical features for this syndrome. This chromosomal aberration is probably caused by the pericentric inversion of chromosome 9 of the patient's father.
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The authors describe their experiences with the treatment of 3 newborns with meningitis due to B-streptococci,, and give a review of the problems of etiology, clinical symptoms, diagnosis and therapy of infections with B-streptococci in newborns. Furthermore, the article deals withthe frequency of the ocurrence of these bacteria in mothers, children and in the medical personal staff as well as with the possible ways of transmission. The relations between infections with B-streptococci and respiratory distress syndrome in newborns are discussed with the problems of differential diagnosis and therapy.
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The authors report on a newborn with skin necroses and fibularis paresis after postnatal administration of NaHCO3 via the umbilical cord. Then some problems of postnatal buffer therapy are discussed. After a review of advantages and disadvantages of puncture or cannulation of the umbilical vein on the one hand and its catheterization on the other, the former procedures are preferred for an effective buffer therapy, provided strict indications are followed.
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Examination of spontaneous abortions often reveals deletion 13q-. The authors report on a case of de novo deletion in a female newborn with karyotype 46,XX,del (13) (q33) and discuss the problems of the mapping of clinical syndromes. The critical part of the 13q- syndrome is presumably the band 13q33 and/or 13q34. In clinically suspicious cases chromosome visualization should be done with reliable methods (R-banding) in order to detect even very small defects. The gene localisation of esterase D is obviously proximal of the terminal part of chromosome 13.