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A Abbiati

Publications and source records attributed to A Abbiati.

8 recordsLinked to original sources

Genetics of endometriosis.

UNLABELLED: Endometriosis is a multifactorial disease that can affect up to 10-15% of women in their reproductive age. Epidemiological studies indicate that it is a polygenic disorder with recurrence risks in first-degree relatives of about 5-7%. Thus, the present aim of different research groups is to identify genetic variations in obvious candidate gene that could be associated with an increased susceptibility to endometriosis. The great advancement in molecular biology techniques make this task certainly possible, although particular attention needs to be paid to the study design in order to achieve reliable RESULTS: The data obtained by such studies will allow to expand our knowledge on the pathogenesis of the disease and, more importantly, to develop individualized therapies and prevention strategies to apply at high-risk populations.

Alleles↗

Analysis of the codon 72 polymorphism of the TP53 gene in patients with endometriosis.

Endometriosis is a benign gynaecologic disease that is associated with a certain risk for malignant degeneration. The disease has a genetic background, but the locations of possible genomic aberrations are still poorly clarified. In this context, the proline form of TP53 codon 72 polymorphism has been recently associated with the risk of developing endometriosis. In this case-control study, we aimed to investigate further the potential association between endometriosis and this polymorphism in order to evaluate whether this genetic variant may influence the susceptibility to the disease. Genomic DNA was obtained from a consecutive series of 303 Italian Caucasian women of reproductive age who underwent laparoscopy for benign gynaecological pathologies. Endometriosis was defined according to the criteria of Holt and Weiss [Holt V and Weiss NS (2000) Recommendations for the design of epidemiologic studies of endometriosis. Epidemiol 11,654-659] for the definite disease. Subjects of similar age without laparoscopic evidence of the disease served as control group. Molecular analysis of TP53 codon 72 polymorphism was performed by PCR amplification. Endometriosis was documented in 151 women. We found no statistically significant difference in the distribution of TP53 codon 72 polymorphism genotypes between patients with and without endometriosis. The respective proportions of arginine homozygotes, heterozygotes and proline homozygotes were 55.6, 39.7 and 4.6% in the group with endometriosis and 59.9, 30.9 and 9.2% in the control group. Moreover, no statistically significant association was demonstrated between TP53 codon 72 polymorphism and the various clinical manifestations of the disease, although a non-significant tendency towards an increased frequency of the proline allele was observed in association with specific manifestations of the disease reflecting a more severe form. Our results suggest that the TP53 codon 72 polymorphism does not confer genetic susceptibility to endometriosis in the Italian population. However, a possible susceptibility role of this polymorphism in endometriosis development towards very severe forms cannot be ruled out.

Adult↗

Quantitative analysis of minaprine and some of its metabolites with application to kinetic studies in rats.

A simple and rapid high-performance liquid chromatographic method is described for the quantitative analysis of the psychotropic drug minaprine and three of its metabolites (M1, M3 and M11), including one as yet undetected metabolite (M11) known as a monoamine oxidase type A inhibitor in vitro. After selective extraction all four compounds were separated on a reversed-phase muBondapak C18 column using sodium acetate (0.03 M)-acetonitrile-methanol (88:7:5) (pH 3.3) as the mobile phase. The eluted compounds were detected with a UV detector at 254 nm. The sensitivity of the method is 0.02 microgram per millilitre of body fluid or per gram of tissue for M1 and M11 and 0.05 microgram per minaprine and M3. The method has been applied successfully to the determination of minaprine and the metabolites in plasma and brain and is compared here with an gas-liquid chromatographic method with an electron-capture detector previously developed for the detection of minaprine and M11. M11 was identified in rat urine by gas chromatography-mass spectrometry.

Animals↗

Brain levels of tofizopam in the rat and relationship with benzodiazepine receptors.

The effect of tofizopam on 3H-flunitrazepam binding was studied in rat hippocampus and cerebellum. Tofizopam (at a concentration of 10(-7) M) increased 3H-Flu binding through a 30% rise in the Bmax with no modification of Kd in either brain area. Similar results were obtained when the binding was measured in tofizopam (50 mg/kg p.o.) pretreated rats. Even though tofizopam has no anticonvulsive action against pentetrazol-induced convulsions, it significantly potentiated the action of diazepam but with no modification of brain diazepam levels and metabolism. The brain levels of tofizopam are reported and compared to plasma levels after oral administration of 5 and 50 mg/kg to rats.

Animals↗