Biomedical subjects
Publications and source records attributed to M Moller.
An inv(1) (p3500q21.3) was found in an azoospermic man, his mother and two other maternal relatives. Although the mechanisms involved are still unclear, it is stressed that pericentric inversions of chromosome 1 in which the inverted chromosome becomes submetacentric (centromeric index less than or equal to 0.324) apparently impair spermatogenesis.
An inv ins(7;2)(q21.2;q3105q24.2) was found to segregate through four generations of a family. Adjacent-1 segregation aneusomies were ascertained in five patients: three monosomics and two trisomics; and the corresponding syndromes were delineated. The comparative analysis between these and other previously described 2q aneusomic individuals led to the conclusion that a large cleft between first and second toes is a constant feature in monosomy 2q24----q31. No other trait could plausibly be mapped. Risks of 7.9 to 31.6% for aneusomic children and of 26.3% for abortion were estimated in the present family.
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In the light of their experience involving 178 patients suffering from carcinoma of the bladder and a study of the literature, the authors attempt to determine the role of radiotherapy in the treatment of carcinoma of the bladder. A number of points emerge: --the possibility of stopping the progression of a recurrent multifocal superficial malignant tumour by 2 flashes of 6.5 Gy; --the efficacy of curative doses of radiotherapy associated with transurethral resection of the tumour in 20% of cases. These figures rise to 50% in anaplastic carcinomas. 20% efficacy of radiotherapy alone without surgery is a high figure. It tends to restore the radiotherapy sensitivity test suggested by R. Couvelaire to its true value; --when combined with excision surgery (partial cystectomy or total prostato-cystectomy), high doses of radiation do not give a better result than limited radiation. In view of the gravity of radiotherapy complications which may occur in up to 20% of cases where high doses of radiation have been administered, the authors would be inclined to limit radiotherapy when treatment of the tumour must be mixed, with surgery. A preoperative flash of 6.5 Gy followed by postoperative radiotherapy up to a total of 45 Gy when partial cystectomy is used. When a decision is made to perform cutaneous implantation of the ureters, the technique should consist of concentrated radiotherapy of 20 Gy in one week followed by excision by total prostato-cystectomy the next week. When urinary bypass is to involve uretero-colonic implantation or bladder replacement, flash radiotherapy of 6.5 Gy once or twice. No additional postoperative radiotherapy. Sandwich radiotherapy is too dangerous.
A girl aged 13 years and 9 months with a phenotypic appearance of 9p trisomy was studied. Chromosome analysis of peripheral blood lymphocytes revealed a 9p tetrasomy [47,XX,+i(9p)] with no evidence of mosaicism. Biochemical studies corroborate the gene dosage effect for galactose-1-phosphate uridyltransferase. The roentgenological findings were quite similar to those of the 9p trisomy except for hypoplastic and angulated ribs, and malformed vertebral bodies, which are probably exclusive of the tetrasomic state.
A 3-month-old boy with a 46,XY,--21,+t(21;21)(pter leads to q22.3::q22.3 leads to q11::p11 leads to pter) karyotype, implicating trisomy for the 21q11 leads to 21q22.2 segment and monosomy for the 21q22.3 sub-band, is described. Most of the clinical features corresponded to Down syndrome ; other signs such as large ears, prominent nasal bridge and retromicrognathia were interpreted as the expression of 21q22.3 monosomy. The abnormal monocentric chromosome had satellites and stalks on both ends as a result of a 21q;21q translocation followed by deletion of one centromere region. Despite similar stalk size and NOR-Ag positiveness a significantly higher association frequency of the centrometric end as compared to the acentric end was found. This observation suggests that the satellite association phenomenon is not exclusively NOR-dependent, but that the centromeric and/or p11 regions of acrocentrics also play an important role.
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Light and electron microscope autoradiography indicated that 3H-labelled inulin was taken up by neurons and glia cells of rat brain cortex in vitro. The mechanism, by which inulin passed the cell membranes, was studied by comparing the transport of inulin (molecular weight 5000) with the transport of dextran (molecular weight 75000). The half-time for the cellular in- and efflux for the two molecules was the same although their diffusion coefficients differed by a factor of 4-5. The transport mechanism was therefore interpreted as bulk transport, and vesicular transport is suggested. Efflux of inulin from brain cortex exposed to inulin in vivo indicated that cellular uptake of inulin also occurred in vivo.
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The innervation of the pineal gland, the cell junctions in this organ and junctions between ependymal cells in the pineal recess were investigated in 27 human fetuses (crown-rump length 30-190 mm). Free nerve boutons containing clear and a few dense core vesicles were present in the pineal parenchyma and in the perivascular spaces. The boutons did not make "synaptic" contacts with the pinealocytes. No evidence for the presence of noradrenaline in the vesicles of nerve boutons was found. Gap junctions, intermediate-like junctions and desmosomes were frequently seen between the pinealocytes. Ruthenium red was used in three fetuses as an extracellular marker. The continuous endothelial cells surrounding the capillary lumen were connected by tight junctions. This indicates the presence of a blood-brain barrier. Tight junctions were present between the ependymal cells in the pineal recess. These junctions constitute an extracellular barrier between the pineal and the cerebrospinal fluid.
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