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M Adinolfi

Publications and source records attributed to M Adinolfi.

At least 55 records · Page 3Linked to original sources

The maternal-fetal interaction: some controversies and solutions.

Recent studies have identified some of the mechanisms responsible for protecting the mammalian embryo against the potentially hostile immunological maternal environment. It is also apparent that these mechanisms vary at different stages of reproduction, from fertilisation to implantation and to full development of the fetus. They are also unique since they vary from species to species and result from exceptional genetic and immunological processes. In this review, a few controversial topics have been selected for discussion. They include the role of suppressive factors and cells, the transfer of immunocompetent cells across the placenta, and claims that habitual recurrent abortion may result from the absence of a maternal immune response.

Abortion, Habitual↗

Carrier detection of deletions in female relatives of X-linked disorders by non-isotopic in situ hybridisation.

Recent studies suggest that a non-isotopic in situ hybridisation (NISH) approach can be successfully employed to investigate the carrier status of female relatives in families of selected patients with Duchenne muscular dystrophy (DMD) or Hunter syndrome, whose diseases are due to a specific X chromosome deletion. Whilst the majority of metaphase spreads from normal females show specific hybridisation signals on both X chromosomes when tested with either dystrophin or Hunter gene-derived probes, only one X chromosome in each metaphase spread will show the relevant hybridisation complex in female carriers of deletions involving the dystrophin or Hunter gene. Thus, the NISH method can be a valuable diagnostic tool for the detection of the carrier status of female relatives of patients with X chromosome deletions.

Chromosome Deletion↗

The treatment of chronic extremity pain in failed lumbar surgery. The role of lumbar sympathectomy.

Persistent lower extremity pain after unsuccessful lumbar surgery continues to be a disabling condition. The results of deafferentation procedures for radiculopathy have been disappointing. Hence, the prospect of isolating a potentially reversible component of extremity pain is quite attractive. Given the frequency with which vasomotor complaints occur in this setting, the occurrence of autonomic dysfunction seems quite plausible. Autonomic dysfunction was investigated in 17 patients who had undergone previous lumbar surgery and had chronic limb pain. Patients underwent a preblockade thermogram, sympathetic blockade, and postblockade thermograms. All patients reported substantial relief after blockade, and all underwent retroperitoneal sympathectomy. All patients were followed for at least 2 years. The clinical results were disappointing, with only one patient reporting substantial relief. Although the results of thermography initially seemed to correlate with clinical outcome, further follow-up failed to yield any correlation. Additionally, no specific combination of response to blockade or thermogram was predictive of the clinical success after sympathectomy. Now, lumbar sympathectomy is not recommended in the setting of chronic radiculopathy and persistent extremity pain.

Female↗

Carrier detection of deletions of the Hunter gene by in situ hybridization.

Deficiency of the lysosomal enzyme alpha-iduronate sulphate sulphatase (IDS) causes the clinical manifestations of Hunter syndrome, an X-linked condition. In about 30% of male patients, the disease is due to a major deletion. Using a non-isotopic in situ hybridization (NISH) method, and a yeast artificial chromosome (YAC) probe, the Hunter gene was mapped to the terminal region of the human X chromosome, close to the Xq28 band. The NISH procedure was then applied to investigate the carrier status of female relatives of a Hunter patient known to have a deletion of the IDS gene. Unequivocal evidence that two female relatives were carriers of the deletion was obtained, demonstrating that the NISH method is a valuable diagnostic tool in genetic counselling of families with Hunter patients.

Chromosome Deletion↗

Alpha-fetoprotein levels in different strains of mice during development.

The levels of alpha-fetoprotein (AFP) were measured at birth and at 7 days of age in plasma from Q, C3H/He-mg/Crc, BALB/c/Crc, A/Crc, CBA/Ca/Crc and C57BL/Mcl mice, and in adult blood samples and amniotic fluid at 14 days' gestation from Q, C3H and BALB/c mice. The AFP levels in amniotic fluid and neonatal plasma were significantly higher in BALB/c mice than in the other strains tested, but by postnatal day 7, C57BL and C3H mice had the highest plasma levels. It seems therefore that the genetic mechanisms controlling the synthesis of AFP prenatally may be distinct from those concerned with its reduction after birth. At 6 weeks of age the level in C3H mice was somewhat higher than in BALB/c, and more than double that in Q mice. An attempt to increase AFP levels in response to galactosamine-induced liver damage was successful only in Q adult mice. When amniotic fluids and day 0 plasma from several strains of mice were tested by polyacrylamide gel electrophoresis, no differences in AFP mobility were detected. Preliminary studies were also carried out to see if the administration of sodium butyrate, claimed to delay the timing of the fetal to adult haemoglobin switch in some mammalian species, could also affect the rate of synthesis of AFP during fetal life.

Amniotic Fluid↗

Expression of complement receptors CR1 and CR3 in patients with juvenile periodontitis.

The expression of two complement receptors, CR1 and CR3, was investigated in a group of 11 patients with localized juvenile periodontitis (LJP) before and after stimulation of their peripheral blood neutrophils and monocytes with a chemotactic factor. A total deficiency of CR1 or CR3 was not observed in any patient. Abnormally high or low values were seen in some individuals; however, tests repeated a few months later suggested that the abnormal expression of CR1 and CR3 were not causing the disease, but were probably the result of the inflammation and infection usually associated with untreated juvenile periodontitis.

Adolescent↗

Recessive mutations and chromosome deletions leading to cancer.

This review examines the effect that a small chromosome deletion affecting a specific DNA sequence may have in producing a state of 'hemizygosity' for a gene or genes, and so triggering malignancy of the cells concerned. The association between such deletions and a variety of cancers will be considered and the implications for clinical practice will be outlined.

Chromosome Aberrations↗

Prenatal diagnosis of genetic disorders in preimplantation embryos: invasive and non-invasive approaches.

The purpose of this article is to analyse the various non-invasive and invasive methods that offer the opportunity of prenatal diagnosis of selected inherited disorders at the preimplantation stages of human embryonic development and to discuss the advantages and ethical problems associated with such procedures. These investigations should also provide important information on the development of the human embryo and its hormonal and immunological relationship with the mother.

Base Composition↗

Analysis of complex Y chromosome aberrations using a single DNA probe (Y-367).

A specific cloned DNA sequence (Y-367) detects at least four loci in the euchromatic long arm and in the short arm of the human Y chromosome. Deletion mapping assigns one locus to the distal euchromatic long arm, another to a region close to the centromere on either Yq or Yp, and two additional loci to the Y short arm. Y-367 may thus be used for the rapid screening of even complex Y chromosome aberrations. This is exemplified in a 45,X male with Y chromosome material on the long arm of chromosome 10 by the detection of an inversion of a portion of Yp and by the confirmation of duplications and deletions in two individuals with duplications of part of the Y chromosome.

Chromosome Aberrations↗

Ontogeny of human complement receptors CR1 and CR3: expression of these molecules on monocytes and neutrophils from maternal, newborn and fetal samples.

Higher levels of the expression of CR1 and CR3 molecules were detected on the surface of monocytes and neutrophils from maternal and newborn (cord) blood samples than in adult controls. Chemotactic factors such as formyl-methionyl-leucyl-phenylalanine or leukotriene B4 induced an increase of the expression of CR1 and CR3 which was more pronounced on cells from maternal and cord samples than from nonpregnant adult controls. CR1 and CR3 molecules were detected in monocytes and neutrophils from peripheral blood obtained from fetuses more than 14 weeks old and on subpopulations of cells in bone marrow, spleen and thymus.

Antibodies, Monoclonal↗

Analysis of peripheral maternal blood samples for the presence of placenta-derived cells using Y-specific probes and McAb H315.

Using flow cytometry, a small number of cellular elements expressing on their surface an antigen (H315) produced by placental trophoblast have been observed in the peripheral blood of pregnant women. This is in agreement with previous observations (Covone et al., 1984a,b) and recent results documenting the presence of a small number of H315-positive cells in the peripheral circulation of pregnant women (Pool et al., 1987; Caligaris-Cappio and Camaschella, personal communication). When DNA extracts, prepared from H315-positive cells sorted from maternal samples were tested by Southern transfer using Y-specific probes (Y190 or Y411), a Y-specific band could not be detected in any sample analysed, irrespective of the sex of the fetus. In control samples from healthy male donors, a Y-specific band could be detected with as few as 800 46,XY cells without interference from contaminating 46,XX cells. H315-positive cellular elements, sorted by flow cytometry from the maternal peripheral blood, were also examined in interphase using Y-specific probes (Y190 and Y431) and an in situ biotin-avidin fluorescent hybridization technique. The great majority of the sorted H315-positive cellular elements did not show a fluorescent Y body, even in samples from mothers who later delivered a male infant. While previous investigations had failed to demonstrate the in vitro uptake of H315 antigen onto the surface of leucocytes from healthy males incubated in maternal sera, the present studies demonstrate that cells from male donors could adsorb this antigen following incubation in extracts prepared from retroplacental blood. These findings thus suggest that the majority of H315-positive nucleated cells previously detected by flow cytometry in the peripheral circulation of pregnant women are maternal cells which have adsorbed H315 antigen in vivo, either in soluble form or as small cell membrane fragments.

Adult↗