Blood Substitutes with Gas Transfer Function.

The review presents the results of the blood substitute development based on perfluororganic compounds (PFC). The limitations of PFC due to which their further development was suspended are described. The presented data allows us to imagine a possible way to create optimal drugs based on PFC. Chemically inactive perfluorocomponents should be used - perfluorinated hydrocarbons and tertiary perfluorinated amines. However, in order to emulsify and stabilize the emulsion, other types of effective and chemically indifferent surfactants that do not interact with oxygen and other components of the drug are needed.

[Clinical and molecular genetic verification of Frasers syndrome, false male hermaphroditism and chronic glomerulonephritis (the first description in Russia)].

The Wilms tumor gene (WT1) encodes a transcription factor that plays a key role in the laying and differentiation of the kidneys and gonads. Mutations of the WT1 gene were detected in patients with the WAGR complex (Wilms tumor, aniridia, urogenital pathology, mental retardation), Denis-Drach syndrome (early renal failure, diffuse mesangial sclerosis, varying degrees of gonadal dysgenesis, high risk of Wilms tumor) and Fraser syndrome. The latter is characterized by a fully female phenotype with karyotype 46XY, focal segmental glomerulosclerosis with the development of renal failure in the 2nd decade of life, gonads in the form of cords and a high risk of gonadoblastoma. The presence of a heterozygous point mutation, which alters the donor site of splicing of the intron 9 of the WT1 gene, is also typical of Fraser syndrome. We present a case of characteristic clinical manifestations of Fraser syndrome in a patient in whom the diagnosis was confirmed by the detection of a mutation in the WT1 gene.