Common genetic variants of the human steroid 21-hydroxylase gene (CYP21A2) are related to differences in circulating hormone levels.

Purpose: Systematic evaluation of the potential relationship between the common genetic variants of CYP21A2 and hormone levels.

Methods: The relationships of CYP21A2 intron 2 polymorphisms and haplotypes with diverse baseline and stimulated blood hormone levels were studied in 106 subjects with non-functioning adrenal incidentaloma (NFAI). The rationale for using NFAI subjects is dual: i) their baseline hormone profiles do not differ from those of healthy subjects and ii) hormone levels after stimulation tests are available.

Both positive and negative selection pressures contribute to the polymorphism pattern of the duplicated human CYP21A2 gene.

The human steroid 21-hydroxylase gene (CYP21A2) participates in cortisol and aldosterone biosynthesis, and resides together with its paralogous (duplicated) pseudogene in a multiallelic copy number variation (CNV), called RCCX CNV. Concerted evolution caused by non-allelic gene conversion has been described in great ape CYP21 genes, and the same conversion activity is responsible for a serious genetic disorder of CYP21A2, congenital adrenal hyperplasia (CAH). In the current study, 33 CYP21A2 haplotype variants encoding 6 protein variants were determined from a European population.

Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene.

The RCCX region is a complex, multiallelic, tandem copy number variation (CNV). Two complete genes, complement component 4 (C4) and steroid 21-hydroxylase (CYP21A2, formerly CYP21B), reside in its variable region. RCCX is prone to nonallelic homologous recombination (NAHR) such as unequal crossover, generating duplications and deletions of RCCX modules, and gene conversion.

Astronaut's organ doses inferred from measurements in a human phantom outside the international space station.

Space radiation hazards are recognized as a key concern for human space flight. For long-term interplanetary missions, they constitute a potentially limiting factor since current protection limits for low-Earth orbit missions may be approached or even exceeded. In such a situation, an accurate risk assessment requires knowledge of equivalent doses in critical radiosensitive organs rather than only skin doses or ambient doses from area monitoring.

Developing multimedia software and virtual reality worlds and their use in rehabilitation and psychology.

The multimedia and virtual reality projects performed at our laboratory during the last ten years can be grouped into the following groups: 1) tutorial and entertainment programs for handicapped children, 2) rehabilitation programs for stroke patients and patients with phobias. We have developed multimedia software for handicapped children with various impairments: partial vision, hearing difficulties, locomotive difficulties, mental retardation, dyslexia etc. In the present paper we show the advantages of using multimedia software to develop mental skills in handicapped people and deal with the special needs of handicapped children.

Development of a computer controlled cognitive diagnostics and rehabilitation method.

In this paper we introduce a computer controlled method (HELp Neuropsychology = HELEN) which enables - as a difference to methods used internationally--not only the establishment of the diagnosis, but permits measurement of the effectiveness of the therapy. It allows: --To produce a database of the patients that contains not only their personal data but also the results of the tests, their drawings and audio recordings. --It is an intensive therapeutic test, which contains tutorial programs too.