Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia.

Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive lysosomal storage disease caused by mutations in the arylsulfatase B gene () and consequent deficient activity of ARSB, a lysosomal enzyme involved in the glycosaminoglycan (s) (GAGs) metabolism. Here, we present the results of the study of DNA analysis in MPS VI patients in the Russian Federation (RF) and other republics of the Former Soviet Union. In a cohort of 68 patients (57 families) with MPS VI, a total of 28 different pathogenic alleles were found.

The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation.

Background: Hereditary tyrosinemia (HT1) is an autosomal recessive disorder characterized by impaired tyrosine catabolism because of fumarylacetoacetate hydrolase deficiency. HT1 is caused by homozygous or compound heterozygous mutations in the FAH gene. The HT1 frequency worldwide is 1:100,000-1:120,000 live births.

[Treatment of allergic rhinitis associated with hypothyroidism].

Fifty five patients with allergic rhinitis and moderate hypothyroidism due to autoimmune thyroiditis have undergone clinical, functional, hormonal, immunological and allergological examinations. Of them, 45 patients received a course of treatment with thyroid hormones and antiallergic drugs while 10 patients received replacement hormonal therapy only. The results of the study demonstrate that treatment of allergic rhinitis associated with hypothyroidism is more effective if antiallergic drugs are added to replacement hormonal therapy.

[Modern characteristics of clinical course and treatment of otogenic purulent meningitis].

A total of 170 patients aged 2.5 to 60 years have received treatment for otogenic meningitis caused by acute (n=37, 21.2%) or chronic otitis media (n=137, 78.

[Combined pathology of the upper respiratory tract in children with allergic rhinosinusitis and its management].

Concomitant ENT affections were found in all the 172 children aged 4 to 15 years with atopic rhinosinusitis examined by the authors. 44.7% of them were treated surgically, the rest underwent specific immunotherapy.