СОВРЕМЕННЫЕ ПРЕДСТАВЛЕНИЯ О ПАТОГЕНЕЗЕ ИКСОДОВЫХ КЛЕЩЕВЫХ БОРРЕЛИОЗОВ

This review present current immunological, microbiological and molecular genetic features of Lyme disease. The mechanisms of borrelia’s dissemination and adaptation in the macroorganism are describe. The role of B. burgdorferi s.l. in the development of autoimmune diseases and non-Hodgkin-lymfomas is describe.В обзоре представлены современные микробиологические, иммунологические и молекулярно-генетические особенности иксодовых клещевых боррелиозов. Описаны механизмы диссиминации и адаптации боррелий в условиях макроорганизма. Освещена роль B. burgdorferi s.l. в развитии аутоиммунных заболеваний и неходжскинских лимфом

КЛИНИКО-ЛАБОРАТОРНЫЕ ОСОБЕННОСТИ ИКСОДОВОГО КЛЕЩЕВОГО БОРРЕЛИОЗА, ВЫЗВАННОГО BORRELIA MIYAMOTOI, У ДЕТЕЙ

The article presents the results of a survey of 77 patients with confirmed acute tick-borne infection in the age of 1 year to 17 years. Three patients (5%) selected Borrelia miyamotoi. Identified clinical and laboratory features of infection caused by Borrelia miyamotoi. It is shown that Borrelia miyamotoi causes the development of recurrent febrile conditions without erythema migrans at the background of marked cerebral symptoms. In this regard, necessary to carry out a differential diagnosis of this disease with tick borne encephalitis.В статье представлены результаты обследования 77 больных с подтвержденной острой клещевой инфекцией в возрасте от 1 года до 17 лет. У 3 пациентов (5%) выделена Borrelia miyamotoi. Выявлены клинико-лабораторные особенности инфекции, вызванной Borrelia miyamotoi. Показано, что Borrelia miyamotoi вызывает развитие рецидивирующих лихорадочных состояний без мигрирующей эритемы на фоне выраженной общемозговой симптоматики. В связи с этим необходимо проведение дифференциальной диагностики данного заболевания с клещевым энцефалитом

Clinical and laboratory features of ixodes tick-born borreliosis caused by Borrelia miyamotoi in children

The article presents the results of a survey of 77 patients with confirmed acute tick-borne infection in the age of 1 year to 17 years. Three patients (5%) selected Borrelia miyamotoi. Identified clinical and laboratory features of infection caused by Borrelia miyamotoi. It is shown that Borrelia miyamotoi causes the development of recurrent febrile conditions without erythema migrans at the background of marked cerebral symptoms. In this regard, necessary to carry out a differential diagnosis of this disease with tick borne encephalitis

Current knowledge of Lyme disease’s pathogenesis

This review present current immunological, microbiological and molecular genetic features of Lyme disease. The mechanisms of borrelia’s dissemination and adaptation in the macroorganism are describe. The role of B. burgdorferi s.l. in the development of autoimmune diseases and non-Hodgkin-lymfomas is describe

Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population

Hereditary nonsyndromic sensorineural hearing loss is a disease in which hearing loss occurs due to damage to the organ of the inner ear, the auditory nerve, or the center in the brain that is responsible for the perception of sound, characterized by wide locus and allelic heterogeneity and different types of inheritance. Given the diversity of population of the Russian Federation, it seems necessary to study the ethnic characteristics of the molecular causes of the disease. The aim is to study the molecular and genetic causes of hereditary sensorineural hearing loss in Chuvash, the fifth largest ethnic group in Russia. DNA samples of 26 patients from 21 unrelated Chuvash families from the Republic of Chuvashia, in whom the diagnosis of hereditary sensorineural hearing loss had been established, were analyzed using a combination of targeted Sanger sequencing, multiplex ligase-dependent probe amplification, and whole exome sequencing. The homozygous variant NM_133261.3(GIPC3):c.245A>G (p.Asn82Ser) is the major molecular cause of hereditary sensorineural hearing loss in 23% of Chuvash patients (OMIM #601869). Its frequency was 25% in patients and 1.1% in healthy Chuvash population. Genotyping of the NM_133261.3(GIPC3):c.245A>G (p.Asn82Ser) variant in five neighboring populations from the Volga-Ural region (Russian, Udmurt, Mary, Tatar, Bushkir) found no evidence that this variant is common in those populations