Biomedical subjects
Publications and source records attributed to M Adinolfi.
Investigations by fluorescence in situ hybridization and a Y-specific probe (Y190) of a male patient with a Y ring chromosome, 46,X,r(Y) showed four bright fluorescent spots within the ring. Thus, using this technique, it is possible to suggest that the ring originates from the duplication of the short arms of the Y chromosome.
Two moderately repetitive DNA probes (Y190 and Y431) and a fluorescent in situ hybridization technique, using a biotin, avidin, anti-avidin system, were employed to investigate a group of patients with Y chromosome abnormalities. In normal male subjects, a bright fluorescent spot could be detected in cells in interphase and on the short arm of the Y chromosome in metaphase spreads. Translocations of DNA fragments of the short arm of the Y chromosome to autosomes 10, 13 and 15 were observed in five patients. In a 45,XX male subject the translocation involved one of the X chromosomes. With this in situ hybridization procedure, bright fluorescent spots were also noticed in uncultured amniotic cells and chorionic cellular elements from male fetuses, thus allowing a rapid and reproducible approach to prenatal fetal sexing.
Explore the source record for details and available documents.
Some components of complement, such as C3, C9 and factor B, behave as acute phase reactants and their serum levels increase significantly in the course of inflammation. The diagnostic and prognostic significance of estimating the serum levels of C9 and factor B was evaluated in patients with Behçet's syndrome, recurrent oral ulceration and Crohn's disease, and the results were compared with those of measuring other acute phase reactants, such as C-reactive protein or alpha 1-antitrypsin. Longitudinal studies in these patients show a clear correlation between clinical indexes of the disease and levels of C9 and factor B. These findings, and experimental studies in monkeys, suggest that inflammation variously affects the synthesis of the acute phase reactants and that they play different roles as mediators of cellular damage.
Explore the source record for details and available documents.
Mouse monoclonal antibodies reacting against membrane antigens expressed on syncytiotrophoblast (McAb H315), villous cytotrophoblast (McAb 18B/A5) and placental-type alkaline phosphatase-producing cells (McAb H317) were used in conjunction with flow cytometry to detect placental cells in the maternal circulation. H315 and H317-positive cells were found in uterine veins and peripheral blood of pregnant women, while cells reacting with McAb 18B/A5 were either absent or present in very low numbers.
A T cell subset (T4+,2H4+) has recently been identified, which acts as an inducer of T8+ suppressor cells; however 2H4 molecules have not been detected in thymuses from normal individuals or on the surface of immature thymocyte clones. In the present study, T4+,2H4+ and T8+,2H4+ cells have been found in maternal and new-born blood samples. However, only a small percentage of 2H4+ cells were detected in human fetal thymus, bone marrow, liver and spleen, thus suggesting that T cells acquire these molecules only in circulation and at a late stage of maturation.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Using a monoclonal antibody (H315) and cytofluorimetry, the presence of deported syncytiotrophoblast was investigated in blood samples collected from peripheral and uterine veins at the time of elective Caesarean sections. In all 10 women studied, a higher incidence of H315-positive syncytiotrophoblast cells was detected in the uterine samples than in peripheral blood, thus confirming that in normal pregnancies a large number of cells are shed from the placenta and gain access into the maternal circulation at the time of delivery.
An attempt was made at correcting the specific lysosomal enzyme deficiencies in 7 children with Hunter's or Hurler's diseases by transplantation of fetal fibroblasts. In spite of pretreating the young patients with stored blood, following a procedure employed successfully to avoid rejection of kidneys from incompatible donors, the use of serum-free media for culturing the cells before being harvested and incubation of the cells with chorionic gonadotrophin, the transplantation of fetal fibroblasts was not associated with biochemical or clinical changes. None of the seven patients showed immune reactions against the transplanted cells, HLA antigens, or the missing enzymes.
We have investigated 31 families segregation for Hunter Syndrome in order to advance our understanding of the genetics of this disease. The hair root test for the diagnosis of carriers of Hunter Syndrome was improved by the adoption of a new diagnostic index that distinguishes between carrier and normal females better than previous methods of analysis. One hundred and eleven female relatives of the affected children were tested by such procedures. This showed that seven out of 31 mothers were not carriers (22.6%), thus suggesting a small deficit of new mutation relative to the expectation that 33% of lethal, recessive alleles arise anew in a population at equilibrium at a sex-linked locus with equal mutation rates in male and female gametogenesis. The difference, however, is not statistically significant. The age of the parents of new mutants was slightly but significantly raised. Nevertheless, the independent increase in the age of the fathers of new female mutants was not statistically significant. Finally, a deficit of affected males was observed. This was significant and suggests the possibility of intrauterine loss of some affected males. Linkage analysis between the Hunter Syndrome locus, three polymorphisms in the Factor IX gene and the anonymous polymorphic probes 52A and DX13 showed that the Hunter locus is fairly closely linked to DX13, and hence distal to the Factor IX gene, while no linkage was observed with the 52A polymorphic site. The maximum lod score for the linkage between factor IX and the Hunter Syndrome locus was 0.424 at theta = 0.25; and that for the linkage between the Hunter Syndrome locus and DX13 was 3.01 at theta = 0.1.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
This paper reports the biochemical results of transplanting human amniotic epithelial cells in 3 children with Hunter's and 2 with Hurler's disease. A transient and modest increase of alpha-L-idurono-2-sulphate sulphatase or alpha-iduronidase was observed in the white cells collected from 1 patient with Hunter's and 1 with Hurler's disease. No variation in the excretion of glycosaminoglycans or oligosaccharides was detected in all 5 patients. There was no evidence of immune response towards the transplanted cells or the specifically deficient enzyme. Thus, in spite of the absence of the major histocompatibility antigens, HLA A, B, C and DR, on the surface of the amniotic epithelial cells, no long-term correction of lysosomal enzyme deficiencies was achieved by transplanting amniotic epithelial membranes collected at the end of the gestational period.
The suggestion that the sex ratio is distorted following repeated pregnancies raises the possibility that specific immunological reactions may be responsible. In recent years, work on the sex ratio has been carried out both in experimental animals and in man, and this has been interpreted in the light of the discovery (in mice) of a male-specific weak transplantation antigen, the H-Y antigen. The resulting antibodies could, theoretically, operate on sperm selection, but there is no experimental support for this. Experimental data, including our own, do not support the possibility that successive pregnancies may affect the sex ratio through the induction of anti-H-Y antibodies by a male pregnancy. Neither is there evidence that interaction between male antigens and some pathological conditions influences the sex ratio. Nevertheless, there remains the suggestion that the sex ratio in pre-eclampsia shows a male bias. There is evidence that Rh(+) male fetuses are strongly sensitizing to their Rh(-) mothers, and there is a possibility that the sex ratio in the Xg(a) blood group system is unusual. These possibilities require further study.
The presence of human trophoblast cells in maternal blood was investigated by the use of flow cytometry and a monoclonal antibody reacting against a specific antigen present on the surface of these cells. Three types of cells derived from the placenta could be detected in the peripheral blood obtained from women between 6 weeks' gestation and term. One group of cells were polynucleated, a second group were diploid, and a third consisted of anucleate cells derived from the syncytiotrophoblast. These cells should be suitable for prenatal diagnosis of chromosomal and biochemical abnormalities.
Explore the source record for details and available documents.