Spectrum of Mutations in BRCA1/2 Associated High-Grade Serous Ovarian Cancer.

Mutations in TP53 lead to loss of function (LOF) or gain of function (GOF) of the corresponding protein p53 and produce a different effect on the tumor. Our goal was to determine the spectrum of somatic variants in associated high-grade serous ovarian cancer (HGSOC). The population under study comprised of HGSOCs with pathogenic variants in ( = 78) or ( = 21).

Loss of Heterozygosity in BRCA1 and BRCA2 Genes in Patients with Ovarian Cancer and Probability of Its Use for Clinical Classification of Variations.

Changes (or variants) in BRCA1 and BRCA2 gene sequences can have different lengths and clinical significance: from single nucleotide variants (SNV) and short insertions/deletions (<50 bp) to extended deletions and duplications (so-called copy number variations, or CNV). According to their clinical significance, all variants can be divided into pathogenic, likely pathogenic, variants of uncertain significance, likely benign, and benign. Moreover, variants can be germinal (i.

[Antiinflammatory and antiulcer effect of oxymethyluracil].

Enteral administration of oxymethyluracil in non-inbred albino rats decreased the inflammatory reaction to histamine, serotonin, bradykinin, carrageenan and trypsin, (being similar to voltaren) and reduced granulomatous inflammation, but influenced the proliferation to a lower extent than did voltaren. In contrast to voltarcen, oxymethyluracil also exhibited gastroprotective antiulcer properties.

A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism.

We report on a DAX1 gene investigation in a patient with X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) in order to identify mutations causing this disorder and to confirm the clinical diagnosis. The description of the clinical course of the condition with a detailed documentation of longitudinal data is also reported. A male newborn was referred at 45 days of life because of vomiting, dehydration, and weight loss.

[New prospects of using milk thistle (Silybum marianum) preparations].

Well-known and newfound properties of milk thistle (Silybum marianum) preparations are considered (including hepatoprotector, immunostimulant, antiproliferative, antisclerotic, etc.) and the ways of their realization are analyzed. Good prospects of further development of the drugs based on this medicinal plant are emphasized and the possibilities of wider clinical use are discussed.