Biomedical subjects

Ortansa Stoica

Publications and source records attributed to Ortansa Stoica.

6 recordsLinked to original sources

PubMedDate not supplied

[Drug therapy at the beginning of the genomic era].

The individualisation of drug therapy according to the genetic profile of each patient would allow to avoid the adverse effects and to reach the maximum therapeutic efficiency, therefore an optimum risk/efficiency ratio. This desideratum has become feasible in the genomic era by identifying and mapping a true mononucleotid polymorphism signature DNA (single nucleotide polymorphism fingerprint--SNP) and by using the new technologies. The present day data regarding the polymorphism of the genetic determinants involved in the response to drugs are synthetically shown, as well as the defining of the new fields--pharmacogenetics and pharmacogenomics. Although superposable and interchangeable up to a point, the term of pharmacogenetics rather refers to the study of the variability of response to drugs according to the genetic profile, the term of pharmacogenomics being reserved to the analysis of the genome (DNA and its products, RNA and proteins), in relation with the response to drugs. The differences among the individuals concerning the pharmacokinetics and the pharmacodynamics can be explained through the polymorphism of the substrata (enzymes, carrier proteins, receptors) that explains the genetic stratification of the population. The development strategies of the drug research and of the pharmaceutical industry will certainly be modulated by the new acquisitions in the field of pharmacogenetics and pharmacogenomics, with the inherent bioethical implications. New specific drugs for the patients possessing peculiar genotypes could be synthesized, the starting off of the prealable stratification of the patients according to their genotype.

Drug Therapy↗

PubMedDate not supplied

[DNA repair pathways and their involvement in human diseases].

Integrity maintenance of the genome is crucial. Human DNA is vulnerable to damage arising from both endogenous and exogenous sources. Different DNA repair pathways counteract these potentially mutagenic accidents: damage reversal by methylguanine methyl transferase (MGMT), base nucleotide repair (BER), nucleotide excision repair (NER), mismatch repair (MMR) and repair of strand breaks. In some cases, DNA damage is not repaired but is instead bypassed by specialized DNA polymerases. The existence of human diseases associated with defects in DNA repair illustrates the importance of this process of quality control. Many of these human diseases have an increased susceptibility to cancer.

DNA Damage↗

PubMedDate not supplied

[Importance of genetic factors in the pathogenesis of gonadal and postgonadal human infertility].

The infertility is a important health problem, affecting about 10-15% of couples. The important role of genetic factors in pathogenesis of infertility is now increasingly recognized and our knowledge in this field are improved each day. For these reasons we review the most important genetic causes of infertility. In this paper we analyse the genetic implications in gonadal and postgonadal infertility. Gonadal infertility affects both sexes and are characterised by hypergonadotrophic hypogonadism. Gonadal infertility is produced by chromosomal or monogenic mutations. Chromosomal causes are represented by gonosomal aneuploidy and structural chromosomal abnormalities. The monogenic disorders are consequences of a recessive mutations of hormone, hormonal receptor or enzymes genes. Postgonadal infertility is present in men and is the result of some obstructive disorders.

Female↗

PubMedDate not supplied

[ The importance of genetic factors in pathogenesis of central infertility (hypothalamic and pituitary].

The infertility is a important health problem, affecting about 10-15% of couples. The important role of genetic factors in pathogenesis of infertility is now increasingly recognized and our knowledges in this field are improved each day. For these reasons we review the most important genetic causes of infertility. In this paper we analyse the genetic implications in central infertility (hypothalamic and pituitary). These conditions affect both sexes and are characterised by hypogonadotrophic hypogonadism. In majority of cases central infertility is produced by recessive mutations of hormone or hormonal receptor genes. In some cases the infertility is a component of a specific syndrome.

Chromosome Aberrations↗

PubMedDate not supplied

[Antisense oligonucleotides with pharmacologic action].

The potential therapeutic applications of the antisense strategy are illustrated by numerous examples of the oligonucleotides investigated in preclinical and clinical trials especially for antiviral, antiinflammatory, anticancer and antiatherosclerotic activity. The main advantages of the antisense oligonucleotides therapeutic candidates are comparatively discussed with the classical drugs.

Arteriosclerosis↗

PubMedDate not supplied

[Basic principles of the antisense strategy].

The antisens strategy is based on specific inhibition of the mutant gene expression by oligodeoxynucleotides (OGN), capable of selectively hybridizing with target DNA or RNA. Molecular mechanisms of the antisense oligonucleotide comprise: inhibition of splicing, inhibition of 5'-capping and 3'-polyadenylation, activation of RN-ase H, small interfering RNA, ribozymes. The antisense strategy is applied to: rational design of potent, selective therapeutic agents, target validation and detection of pathologic gene expression in vivo. The main aim of the antisense oligonucleotide design is to improve the affinity for target RNA and the resistance to nucleolytic degradation.

Enzyme Activation↗