[THE RUSSIAN HEALTHCARE IMAGE DURING THIRD WAVE OF COVID-19 IN THE INFO FIELD].

The article contains the results of primary research of the information field of medical tourism in Russia, conducted in the period before the COVID-19 pandemic in the Yandex search engine and the Medialogia media database from January 01, 2019 to December 31, 2019. The analysis of the results of the study with measurements of the beginning of the year and the end is carried out. The results of the study are one of the parts of the panel study of the image of medical tourism in Russia and can be used in the future by interested structures in order to adjust it.

[THE RUSSIAN HEALTHCARE IMAGE IN THE INFO FIELD DURING THE THIRD WAVE OF COVID-19].

The article contains the results of repeated studies of the Russian healthcare information field conducted during the third wave of COVID-19 in the Medialogia media database, as well as in the Yandex search engine from May 20, 2021 to September 01, 2021. There was carried out a comparative analysis of the results of the study with previous measurements conducted from December 01, 2019 to February 15, 2021. The results of the study are just a part of the image panel study of the Russian healthcare and they can further be used by concerned structures in order to adjust it.

[The image of the Russian health care in information field during second wave of COVID-19].

The article presents the results of restudy of the Russian health care information field, carried out during the second wave of COVID-19 in the mass media database "Medialogia" and in the search engine "Yandex" from October 1, 2020 to January 31, 2021. The comparative analysis of the results of the study with previous measurements taken from December 1, 2019 to May 15, 2020 was implemented. The results of the study are a portion of panel study of the Russian health care system image and can be used hereinafter by interested structures with the view of its adjustment.

[The Russian healthcare image transformation during the pandemic COVID-19 in the info field].

The article represents the results of a studying the information field of the healthcare sector in Russia. Measurements were made in the Yandex search engine, as well as in the Medialogia media database. The study was conducted between December 01, 2019 and may 15, 2020. The results of the studying are one part of the studying of the image of Russian healthcare and may be necessary for further work on its correction.

[Clinical and genetic characteristics of facioscapulohumeral muscular dystrophy Landuzi-Dezherina type 1]. / Kliniko-geneticheskie kharakteristiki litse-plechelopatochnoi miodistrofii Landuzi-Dezherina tipa 1.

AIM: To describe clinical and genetic characteristics of patients from the Russian population with a variety of phenotypic variants of facioscapulohumeral muscular dystrophy Landuzi-Dezherina type 1 (FSHD 1). MATERIAL AND METHODS: The material for the study were blood samples of 16 patients from 15 unrelated families residing in the territory of the Russian Federation, between the ages of 6 to 66 years, with symptoms of FSHD. Diagnosis was based on genealogical data analysis, neurological examination, electroneuromyographic study, indicators of activity of creatine phosphokinase (CPK) in the blood serum and molecular genetic analysis of the results, aimed at the analysis of macrosatellite D4Z4 repeats on chromosome 4. RESULTS AND CONCLUSION: The study established the diagnosis of FSHD1 in 75% of patients. The correlation of the severity and phenotypic spectrum of FSHD1 with the age of onset was found. There was the significant clinical heterogeneity even among the 1st degree relatives in the same family. The correlation between macrosatellite D4Z4 repeats and clinical features of FSHD1 described previously in the literature was not observed.

[Genetics and treatment of early infantile epileptic encephalopathies]. / Genetika i differentsirovannoe lechenie rannikh epilepticheskikh entsefalopatii.

Epileptic encephalopathies (EE) are the group of progressive conditions with various etiologies that can produce neurocognitive deficit both per se and due to constant epileptiform discharges. Epileptic encephalopathies constitute about 15% of epilepsy in childhood and 40% of all seizures occurring in the first 3 years of life. Ten syndrome forms of EE are identified. Genetic factors contribute to 70-80% of all epileptic diseases and approximately 40% of idiopathic epilepsies have a monogenic mode of inheritance. Thirty-five genes of EE have been identified and the search is still continuing. The marked genetic heterogeneity of early EE, including 16 with autosomal-dominant-, 13 with autosomal-recessive-, 4 with X-linked recessive- and 2 with X-linked autosomal inheritance, was shown. The article describes differentiated approaches to the treatment of certain EE syndromes. Recent publications record the effectiveness of targeted therapy for certain forms of monogenic early EE (stiripentol in SCN1A mutations, diphenine in SCN8A mutations, levetiracetam in STXBP1 mutations). These results indicate the necessity for accurate diagnosis of genetic variants in early infantile EE for preventive actions in burdened families and for increasing the effectiveness of treatment.

[Clinical/genetic characteristics of patients with congenital muscular dystrophy caused by mutations in the LMNA gene].

OBJECTIVE: To study clinical/genetic characteristics of congenital muscular dystrophy caused by mutations in the LMNA gene in 5 patients from the Russian population. MATERIAL AND METHODS: DNA samples of 42 probands, aged from 2 months to 9 years, with characteristic signs of congenital muscular dystrophy from nonrelated families were studied. The diagnosis was based on the results of genealogical analysis, neurological examination, serum creatine phosphokinase activity, results of electroneuromyography. RESULTS AND CONCLUSION: In the Russian population, the frequency of congenital muscular dystrophy caused by mutations in the LMNA gene is not less than 12% of all cases of this group of diseases. The results indicate the presence of major mutation c.94_96delAAC in the LMNA gene. Specific phenotypic features of this form of congenital muscular dystrophy with symptoms of progressive flaccid paralysis with predominant lesions of axial muscles and plantar flexor muscles of the foot are described.

[Clinical-genetic characteristics of hereditary motor-sensory neuropathy type 1 X].

Data of own researches and the review of the literary data for studying pathogenesis and features of HMSN, type 1 Х caused by mutations in gene GJB1 are presented in this paper. X-linked HMSN is the genetic variant second for frequency in Russian, it constitute 22% from total of patients of this group. Features of this genetic variant are considerable distinction in weight clinical displays at patients man's and female. It is shown that at the majority of female patients clinical displays are expressed less, and at 20% were absent at all. The assumption is come out that at indicators of CNV from 35 to 52 m/s, it is necessary to conduct research in gene GJB1 especially at patients of a female and as to carry out search of mutations at all relatives with HMSN, type 1 X even in the absence of complaints from their party.

[Clinical-genetic analysis of limb-girdle muscular dystrophy 2 type I].

Seventy four patients with clinical presentation of LGMD and probably autosomal-recessive type of inheritance were examined. Five different mutations of FKRP gene responsible for LGMD2 type I were detected in eight (10.8%) patients. Two of them с.341C>G, c.826C>A were described before and three c.229C>T, с.265C>T, с.1078G>C were found for the first time. The significant clinical polymorphism due to the difference in age of manifestation and severity of clinical presentation was identified.