Biomedical subjects

S Pariani

Publications and source records attributed to S Pariani.

6 recordsLinked to original sources

PubMed1997

Cytogenetic abnormalities and microsatellite instability in endometrial adenocarcinoma.

Recently various authors described a new mechanism involved in the genesis of some tumors, which is characterized by a tendency for replication mistakes and by genomic instability of microsatellite repeats. This instability can be revealed through the shift in the electrophoretic mobility of the analyzed fragments, which is due to a different number of repeat units. This phenomenon is widely documented in colorectal tumors of patients affected by hereditary nonpolyposis colorectal carcinoma (HNPCC). We performed a cytogenetic and molecular study of 23 endometrial adenocarcinomas to investigate the presence of genomic instability and to evaluate the possibility of a positive correlation with specific chromosomal changes. The study of genomic instability was performed using 23 microsatellites localized over 8 chromosomes. Genomic instability of microsatellites was observed in 3 cases over all 8 analyzed chromosomes. The tumoral stage of cases with microsatellite instability does not differ significantly from the remaining tumors. As a matter of fact several cases showing no evidence of instability were more advanced (II B, III A) than tumors with instability. In ten cases we observed trisomy of chromosome 10, in some as a sole anomaly. The 3 cases with genomic instability revealed a near-diploid karyotype and all showed the presence of a supernumerary marker derived from chromosome 1 rearrangements. A derivative chromosome 1 was revealed in 4 cases without evidence of microsatellite instability. It should be noted that the presence of many unidentified markers and the small number of tumors with instability do not allow us to give a definitive significance to this observation. Our results indicate that there is not an apparent correlation between microsatellite instability and specific chromosomal abnormalities. Moreover, we did not find any correlation between pathological characteristics of the tumor and genomic instability. Microsatellite instability appears to be a relatively rare event in endometrial carcinoma.

Adenocarcinoma↗

PubMed1994

Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype.

We investigated the parental origin of the extra chromosome 14 and of the two chromosomes 14 of the euploid cell line, in a case of fetal mosaicism 46,XX/47,XX+14 diagnosed at amniocentesis. Molecular analysis of five polymorphic loci of the short tandem repeat type was performed. Markers D14S43 and D14S49 showed the presence of maternal uniparental disomy of chromosome 14 in the apparently normal cell line. The distribution of the markers analysed along the chromosome suggests maternal heterodisomy with a large isodisomic segment in the telomeric region, possibly caused by meiotic crossing-over.

Adult↗

PubMed1993

Applicability of DNA isolated from syncytiotrophoblast vesicles to gene amplification and molecular analysis.

Maternal contamination of fetal DNA represents a major problem when highly sensitive molecular techniques are used in the prenatal diagnosis of genetic diseases. For this reason, we have studied the possibility of using DNA isolated from syncytiotrophoblast vesicles as a target of gene amplification (PCR). Three PCR systems were selected which included a repetitive 149 bp fragment of the Y chromosome, the VNTR locus D1S80, and a portion of the beta-globin gene. The results of these experiments indicate that DNA isolated from syncytiotrophoblast vesicles is free of maternal contamination and is suitable for gene amplification and DNA analysis.

DNA↗

PubMed1993

Frequency of chromosomal aberrations after exposure to gamma-radiation of human chorionic villi.

We investigated the chromosomal damage induced by in vitro exposure to gamma-rays of uncultured first trimester chorionic villi. Frequency and types of chromosomal aberrations at increasing doses of radiation have been evaluated on cytotrophoblast spontaneous metaphases obtained after a short term incubation. Our results indicate a direct correlation between radiation dose and aberration frequency.

Chorionic Villi↗

PubMed1992

Cyclophosphamide increases the frequency of sister chromatid exchange in direct preparations of human chorionic villi in the absence of supplementary enzymatic activation systems.

A study was performed to evaluate the effect on the frequency of sister chromatid exchange in first trimester chorionic villi of two chemical compounds, mitomycin C and cyclophosphamide. Mitomycin C is generally known to induce an increase in sister chromatid exchange both in vivo and in vitro standard conditions. Cyclophosphamide is a compound requiring additional enzymatic enrichment of the culture medium to express its mutagenic activity under in vitro conditions. We exposed chorionic villi samples to these chemicals without the use of conventional cell cultures and without adding enzymatic extracts to the medium. The results indicate a statistically significant increase in the frequency of sister chromatid exchange after exposure to both compounds and also at lower dosages.

Biotransformation↗

PubMedDate not supplied

Does choice make a difference to contraceptive use? Evidence from east Java.

This study investigates sustained use of contraceptives among women in East Java, Indonesia. Interest is focused on the effect of whether the client's choice of contraceptive method was granted or denied, and the interaction between whether choice was granted or denied and husband-wife concurrence concerning method choice. Data were collected twice in a panel survey. The first round was conducted in family planning clinics among women initiating contraceptive use; the second was a follow-up household survey carried out 12 months later. Whether the user was granted her choice of method was found to be a very important determinant of sustained use of contraceptives. The interaction between whether choice was granted and whether there was husband-wife concurrence on method choice was also important. The highest rate of discontinuation occurred when method choice was denied in the presence of husband-wife agreement on method choice, and the lowest rate occurred when method choice was granted in the presence of such concurrence. The results imply that contraceptive continuation can be enhanced either when family planning workers pay more attention to the stated desires of their clients, or when policy is instituted allowing clients to use their method of choice.

Choice Behavior↗