Spectrum of Causative Mutations in Patients with Hemophilia A in Russia.

Hemophilia A (HA) is one of the most widespread, X-linked, inherited bleeding disorders, which results from defects in the gene. Nowadays, more than 3500 different pathogenic variants leading to HA have been described. Mutation analysis in HA is essential for accurate genetic counseling of patients and their relatives.

[Mutational Analysis of Hemophilia B in Russia: Molecular-Genetic Study].

Hemophilia B is a hereditary X-linked coagulation disorder. This pathology is caused by various defects in the factor IX gene, which is, being about 34 kb long and consisting of eight exons, localized in the Xq27 locus of the. X-chromosome long arm.

[Hereditary afibrinogenemia: A literature review and clinical observations].

Afibrinogenemia is a rare congenital coagulopathy that leads to life-threatening bleeding. In afibrinogenemia, plasma fibrinogen levels are less than 0.1 g/L.

[The effect of the succinic acid preparation on the dynamics of neurological and emotional disturbances in patients with dorsopathy].

Objective: To study the dynamics of neurological and emotional disturbances in patients with dorsopathy treated with cytoflavin.

Material And Methods: We examined 120 patients aged from 21 to 55 years, mean age 38±9 years. All patients received nonsteroid anti-inflammatory drugs, myorelaxants, vitamins.

[Experimental evaluation of combined effects caused by stress and metals (cadmium and aluminium) in reproductivity of male rats].

To investigate combined effects of stress and metal (aluminium, cadmium) on reproductivity, male rats twice per week received intraperitoneal injections of aluminium (3.8 mg Al3+ per kg of body weight) or cadmium (0.3 mg Cd2+ per kg of body weight) and were subjected to stress via short-term immobilization during spermatogenic cycle (54 +/- 3 days).