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Biomedical subjects

M Milani-Comparetti

Publications and source records attributed to M Milani-Comparetti.

At least 19 recordsLinked to original sources
PubMed1989

Echinogenic action of L-alpha-lysophosphatidylcholine in Duchenne muscular dystrophy: a study on carrier detection.

The percentage of echinocytes induced after red cell treatment with L-alpha-lysophosphatidylcholine in the blood of 16 patients affected by Duchenne muscular dystropy (DMD) has been evaluated. Moreover, 15 mothers, 10 sisters, and 15 fathers were also included in the study. We found an increased level of echinocytes in dystrophic patients and in known and possible carriers. Correlations were also evaluated between echinocytes and serum enzymes used in DMD diagnosis, showing an increase of echinocytes also in DMD carriers with normal levels of serum creatine kinase, lactate dehydrogenase, and aldolase. Our results suggest that the sensitivity of erythrocytes to L-alpha-lysophosphatidylcholine in DMD could be used as a diagnostic test for carrier detection.

Adolescent↗
PubMed1983

Frequency of qh+ chromosomal variants in a) radioexposed, b) Down syndrome and c) control subjects.

"Paranormal" variants of human chromosomes, devoid of phenotypical effects (since what appears to vary is heterochromatic, non-genic DNA) are known to be heritable. Some very large variants (especially the qh+ variants on chromosomes 1 and possibly 16 and Y) were reported to be associated with increased reproductive pathology (sterility, fetal wastage, chromosomal aberrations). These variants are currently assessed by the C-band techniques; very large C-bands correspond to morphological alterations (elongation or deformation) of the chromosome. A study of qh+ morphological variants of chromosomes 1, 9 and 16 in 40 professionally radioexposed subjects, in 40 Down-syndrome patients and in 40 controls is reported, indicating that the frequency of each variant is lowest among controls, intermediate among professionally radioexposed subjects and highest among Down-syndrome patients. These findings, if confirmed, suggest a possible use of the qh+ variants as heritable indicators of chromosomal damage.

Chromosome Aberrations↗
PubMed1982

HLA and psoriasis (with or without arthropathy).

30 probands affected by psoriasis, with or without arthropathy, and their relatives were typed for HLA-A, -B and -C antigens. Association of HLA-B16 and HLA-B17 with psoriasis was confirmed. One third of probands was without any known HLA-A, -B, -C marker. Considering probands with at least one HLA-B marker, we found that 50% of their sibs carrying marker is affected and the remaining 50% is healthy. To explain the weak association observed, an attempt to propose a model is made: such a model postulate a gene interaction between the HLA marker gene and an hypothetic "Ps (Psoriasis susceptibility) gene". The model, described in detail in this work, tries to explain why a large part (1/3) of probands is affected even if they do not carry any HLA marker and why 50% of marker positive sibs of marker positive probands are healthy.

Adult↗
PubMed1980

[Interaction between the ABO and Rh-Hr blood group systems in pairs of monozygotic (MZ) and dizygotic (DZ) twins].

Previous studies have revealed significant deviations of twin pairs' blood group distributions. A comparison between monozygotic (MZ) and dizygotic (DZ) pairs in a sample of 688 twin pairs as to interaction between ABO and Rh indicates that the main contribution to total deviation comes from the MZ pairs, thus confirming a different behaviour of the two twin types in this respect.

ABO Blood-Group System↗
PubMed1976

Plasma protein variability in MZ twins.

A previous study had shown that only MZ twins are easily exchanged by trained police dogs. This is certainly due to the superimposability of the biochemical basis of body scent. A different approach has now been tried, based on plasma protein fractionating procedures. A pilot study has shown that PolyAcrilamide Gel Electrophoresis (PAGE) results, as expected, in widely different patterns only in DZ twin pairs. Plasma specimens from a sample of 55 supposedly MZ twin pairs were analysed by PAGE. The substantial superimposability of MZ cotwin patterns was confirmed. Analysis of the different fractions indicates the extent of environmental variability. Application to zygosity determination is suggested.

Blood Proteins↗
PubMed1975

A case of "g 2 deletion syndrome": ring or partial monosomy? (46,XX,22r or 46,XX,22p- ?).

A case of "G2 Deletion Syndrome" is reported, based on concordant cytogenetic, clinical and dermatoglyphic findings. The definition if the syndrome, as associated with either a ring or a partially deleted chromosome 22, is discussed. The resulting interpretation favours the hypotheses of deletion of the short arm extending into the centromere.

Chromosome Aberrations↗