Biomedical subjects

R Sanna

Publications and source records attributed to R Sanna.

22 records · Page 2Linked to original sources

PubMedDate not supplied

Genotoxic effects of cadmium chloride on human amniotic fluid cells cultured in vitro.

In this study we report the results of cytogenetic tests, namely a search for chromosome aberrations (CA) and sister chromatid exchanges (SCEs), performed on human amniotic fluid cells cultured and treated with Cadmium chloride. The cells from primary cultures were exposed to CdCl2 at 1 microM and 10 microM for 24 h. At the higher dose, no metaphases were scored and at the lower dose (1 microM) no effects were evident on cell proliferation, and no chromosome aberrations were found. In the subsequent experiments we used cells from subcultures exposed to 1 microM and 5 microM CdCl2. At the 5 microM dose was evident the induction of chromatid breaks, while the frequency of sister chromatid exchanges shows a small increase, not statistically significant at the dose of 1 microM. In this study we positively demonstrated that amniotic fluid cells grown in vitro are reliable for testing various mutagenic or teratogenic substances. With regard to cadmium treatment results, it is evident a clastogenic effect of cadmium chloride but not a significant induction of SCEs.

Adult↗

PubMedDate not supplied

[Trisomy 18: phenotypic and biochemical variability].

We report a case of Edward's syndrome showing some symptoms infrequently described in trisomy 18. The authors suggest that the phenotypic expression of symptoms rarely observed in the syndrome may be better interpreted as non specific consequence of the chromosomal imbalance, rather than directly related to genes on chromosome 18. A gene dosage effect for the enzyme Peptidase A, whose gene is mapped on chromosome 18, was also observed.

Aspartic Acid Endopeptidases↗

PubMedDate not supplied

[The gene-dose effect for peptidase A on the erythrocytes of a patient with Edwards' syndrome].

The study of gene/dosage effect may be essential in tracing the pathogenetic steps which lead from an unbalanced chromosome anomaly to a pathological phenotype. We present a newborn with a clinical and pathological picture compatible with a diagnosis of Edwards' syndrome. Chromosome analysis on lymphocytes and fibroblasts confirmed the diagnosis showing the presence of trisomy 18. On chromosome 18 the enzyme peptidase A is mapped, and we demonstrated the gene/dosage effect for Pep A in the erythrocytes of our patient.

Abnormalities, Multiple↗

PubMedDate not supplied

[Gene-dosage effect of esterase D enzyme on erythrocytes in a patient with Patau's syndrome].

The study of gene/dosage effect may be essential in tracing the pathogenetic steps which lead from an unbalanced chromosome anomaly to a pathological phenotype. We present a newborn with a clinical and pathological picture compatible with a diagnosis of Patau Syndrome. A chromosome analysis confirmed the diagnosis showing the presence of trisomy 13. On chromosome 13 the enzyme Esterase D (ESD) is mapped, and we demonstrated the gene/dosage effect for ESD in the erythrocytes of our patient.

Alleles↗