165 research outputs found
ΠΠ»ΠΎΠΊΠ°ΡΠ΅ΡΡΠ²Π΅Π½Π½Π°Ρ Π³ΠΈΠΏΠ΅ΡΡΠ΅ΡΠΌΠΈΡ (ΡΠΈΠ½Π΄ΡΠΎΠΌ ΠΠΊΠ°ΡΠ°): Π½ΠΎΠ²ΡΠΉ Π²Π·Π³Π»ΡΠ΄ Π½Π° ΡΡΠ°ΡΡΡ ΠΏΡΠΎΠ±Π»Π΅ΠΌΡ
In the lecture shot history of research of etiology and pathogenesis of more dramatic complication of general anaesthesia β malignant hyperthermiaΒ - are presented. Importance of the interdisciplinary approach to working out of methods of preventive maintenance and treatment ofΒ it pharmacogenetics conditions in practice of the anaesthesiologist is underlined.Π Π»Π΅ΠΊΡΠΈΠΈ ΠΎΡΠ²Π΅ΡΠ΅Π½Π° ΠΊΡΠ°ΡΠΊΠ°Ρ ΠΈΡΡΠΎΡΠΈΡ ΠΈΠ·ΡΡΠ΅Π½ΠΈΡ Π²ΠΎΠΏΡΠΎΡΠΎΠ² ΡΡΠΈΠΎΠ»ΠΎΠ³ΠΈΠΈ ΠΈ ΠΏΠ°ΡΠΎΠ³Π΅Π½Π΅Π·Π° ΠΎΠ΄Π½ΠΎΠ³ΠΎ ΠΈΠ· Π½Π°ΠΈΠ±ΠΎΠ»Π΅Π΅ Π΄ΡΠ°ΠΌΠ°ΡΠΈΡΠ΅ΡΠΊΠΈΡ
ΠΎΡΠ»ΠΎΠΆΠ½Π΅Π½ΠΈΠΉΒ ΠΎΠ±ΡΠ΅ΠΉ Π°Π½Π΅ΡΡΠ΅Π·ΠΈΠΈ β Π·Π»ΠΎΠΊΠ°ΡΠ΅ΡΡΠ²Π΅Π½Π½ΠΎΠΉ Π³ΠΈΠΏΠ΅ΡΡΠ΅ΡΠΌΠΈΠΈ (ΡΠΈΠ½Π΄ΡΠΎΠΌΠ° ΠΠΊΠ°ΡΠ°). ΠΠΎΠ΄ΡΠ΅ΡΠΊΠ½ΡΡΠ° Π²Π°ΠΆΠ½ΠΎΡΡΡ ΠΌΠ΅ΠΆΠ΄ΠΈΡΡΠΈΠΏΠ»ΠΈΠ½Π°ΡΠ½ΠΎΠ³ΠΎ ΠΏΠΎΠ΄Ρ
ΠΎΠ΄Π° ΠΊΒ ΡΠ°Π·ΡΠ°Π±ΠΎΡΠΊΠ΅ ΠΌΠ΅ΡΠΎΠ΄ΠΎΠ² ΠΏΡΠΎΡΠΈΠ»Π°ΠΊΡΠΈΠΊΠΈ ΠΈ Π»Π΅ΡΠ΅Π½ΠΈΡ ΡΡΠΎΠ³ΠΎ ΡΠ°ΡΠΌΠ°ΠΊΠΎΠ³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΡΠΎΡΡΠΎΡΠ½ΠΈΡ Π² ΠΏΡΠ°ΠΊΡΠΈΠΊΠ΅ Π½Π΅Π²ΡΠΎΠ»ΠΎΠ³Π° ΠΈ Π°Π½Π΅ΡΡΠ΅Π·ΠΈΠΎΠ»ΠΎΠ³Π°
ΠΠ΅Π½Π΅ΡΠΈΠΊΠ° ΡΠ΅ΠΌΠ΅ΠΉΠ½ΡΡ ΡΠΎΡΠΌ Π±ΠΎΠΊΠΎΠ²ΠΎΠ³ΠΎ Π°ΠΌΠΈΠΎΡΡΠΎΡΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΡΠΊΠ»Π΅ΡΠΎΠ·Π°
To analyze results of the studies covering modern scientific views on the genetics of familial amyotrophic lateral sclerosis (FALS).We searched for full-text publications containing the key words βamyotrophic lateral sclerosisβ, βFALSβ, and βgeneticsβ in the literature for the past 10 years in both Russian and English in eLibrary, PubMed, Web of Science, and OMIM databases. In addition, the review includes earlier publications of historical interest.This review summarizes all existing information on four most widespread genes associated with FALS: SOD1, TARDBP, FUS, and C9ORF72. The review also describes the functions of these genes and possible pathogenetic mechanisms of motor neuron death in amyotrophic lateral sclerosis (ALS), such as mitochondrial dysfunction, oxidative stress, glutamate excitotoxicity, damage to axonal transport components, and pathological neurofilament aggregation.As modern methods of molecular genetic diagnostics evolve, our knowledge about multifactorial FALS genetics expands. This information should be taken into consideration in clinical practice of neurologists. Information about the genes associated with ALS and understanding of particular pathogenetic mechanisms of the disease play a key role in the development of effective therapeutic strategies.ΠΠ½Π°Π»ΠΈΠ·ΠΈΡΡΡΡΡΡ ΡΠ΅Π·ΡΠ»ΡΡΠ°ΡΡ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΠΉ, ΠΎΡΡΠ°ΠΆΠ°ΡΡΠΈΡ
ΡΠΎΠ²ΡΠ΅ΠΌΠ΅Π½Π½ΠΎΠ΅ ΠΏΡΠ΅Π΄ΡΡΠ°Π²Π»Π΅Π½ΠΈΠ΅ ΠΎ Π³Π΅Π½Π΅ΡΠΈΠΊΠ΅ ΡΠ΅ΠΌΠ΅ΠΉΠ½ΡΡ
ΡΠΎΡΠΌ Π±ΠΎΠΊΠΎΠ²ΠΎΠ³ΠΎ Π°ΠΌΠΈΠΎΡΡΠΎΡΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΡΠΊΠ»Π΅ΡΠΎΠ·Π° (ΡΠΠΠ‘).ΠΡΠΎΠ²Π΅Π΄Π΅Π½ ΠΏΠΎΠΈΡΠΊ ΠΏΠΎΠ»Π½ΠΎΡΠ΅ΠΊΡΡΠΎΠ²ΡΡ
ΠΏΡΠ±Π»ΠΈΠΊΠ°ΡΠΈΠΉ Π½Π° ΡΡΡΡΠΊΠΎΠΌ ΠΈ Π°Π½Π³Π»ΠΈΠΉΡΠΊΠΎΠΌ ΡΠ·ΡΠΊΠ°Ρ
Π·Π° ΠΏΠΎΡΠ»Π΅Π΄Π½Π΅Π΅ Π΄Π΅ΡΡΡΠΈΠ»Π΅ΡΠΈΠ΅ Π² Π±Π°Π·Π°Ρ
Π΄Π°Π½Π½ΡΡ
eLibrary, PubMed, Web of Science, OMIM, ΠΈΡΠΏΠΎΠ»ΡΠ·ΡΡ ΠΊΠ»ΡΡΠ΅Π²ΡΠ΅ ΡΠ»ΠΎΠ²Π° Β«Π±ΠΎΠΊΠΎΠ²ΠΎΠΉ Π°ΠΌΠΈΠΎΡΡΠΎΡΠΈΡΠ΅ΡΠΊΠΈΠΉ ΡΠΊΠ»Π΅ΡΠΎΠ·Β» (ΠΠΠ‘), Β«ΡΠΠΠ‘Β», Β«Π³Π΅Π½Π΅ΡΠΈΠΊΠ°Β». ΠΡΠΎΠΌΠ΅ ΡΠΎΠ³ΠΎ, Π² ΠΎΠ±Π·ΠΎΡ Π²ΠΊΠ»ΡΡΠ΅Π½Ρ Π±ΠΎΠ»Π΅Π΅ ΡΠ°Π½Π½ΠΈΠ΅ ΠΏΡΠ±Π»ΠΈΠΊΠ°ΡΠΈΠΈ, ΠΈΠΌΠ΅ΡΡΠΈΠ΅ ΠΈΡΡΠΎΡΠΈΡΠ΅ΡΠΊΠΈΠΉ ΠΈΠ½ΡΠ΅ΡΠ΅Ρ.ΠΡΠ΅Π΄ΡΡΠ°Π²Π»Π΅Π½Ρ ΡΠΎΠ²ΡΠ΅ΠΌΠ΅Π½Π½ΡΠ΅ Π΄Π°Π½Π½ΡΠ΅, Π½Π°ΠΊΠΎΠΏΠ»Π΅Π½Π½ΡΠ΅ ΠΏΠΎ ΡΠ΅ΡΡΡΠ΅ΠΌ ΡΠ°ΠΌΡΠΌ ΡΠ°ΡΠΏΡΠΎΡΡΡΠ°Π½Π΅Π½Π½ΡΠΌ Π³Π΅Π½Π°ΠΌ Π²ΠΎΠ·Π½ΠΈΠΊΠ½ΠΎΠ²Π΅Π½ΠΈΡ ΡΠΠΠ‘: SOD1, TARDBP, FUS ΠΈ C9ORF72. Π Π°ΡΡΠΌΠΎΡΡΠ΅Π½Π° ΡΡΠ½ΠΊΡΠΈΡ ΡΡΠΈΡ
Π³Π΅Π½ΠΎΠ², Π° ΡΠ°ΠΊΠΆΠ΅ Π²ΠΎΠ·ΠΌΠΎΠΆΠ½ΡΠ΅ ΠΏΠ°ΡΠΎΠ³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΠ΅ ΠΌΠ΅Ρ
Π°Π½ΠΈΠ·ΠΌΡ Π³ΠΈΠ±Π΅Π»ΠΈ ΠΌΠΎΡΠΎΠ½Π΅ΠΉΡΠΎΠ½ΠΎΠ² ΠΏΡΠΈ ΠΠΠ‘: ΠΌΠΈΡΠΎΡ
ΠΎΠ½Π΄ΡΠΈΠ°Π»ΡΠ½Π°Ρ Π΄ΠΈΡΡΡΠ½ΠΊΡΠΈΡ, Π³Π»ΡΡΠ°ΠΌΠ°ΡΠ½Π°Ρ ΡΠΊΡΠ°ΠΉΡΠΎΡΠΎΠΊΡΠΈΡΠ½ΠΎΡΡ, ΠΎΠΊΡΠΈΠ΄Π°ΡΠΈΠ²Π½ΡΠΉ ΡΡΡΠ΅ΡΡ, ΠΏΠΎΡΠ°ΠΆΠ΅Π½ΠΈΠ΅ ΠΊΠΎΠΌΠΏΠΎΠ½Π΅Π½ΡΠΎΠ² ΡΠΈΡΡΠ΅ΠΌΡ Π°ΠΊΡΠΎΠ½Π°Π»ΡΠ½ΠΎΠ³ΠΎ ΡΡΠ°Π½ΡΠΏΠΎΡΡΠ°, ΠΏΠ°ΡΠΎΠ»ΠΎΠ³ΠΈΡΠ΅ΡΠΊΠ°Ρ Π°Π³ΡΠ΅Π³Π°ΡΠΈΡ Π½Π΅ΠΉΡΠΎΡΠΈΠ»Π°ΠΌΠ΅Π½ΡΠΎΠ².ΠΠΎ ΠΌΠ΅ΡΠ΅ ΡΠ°Π·Π²ΠΈΡΠΈΡ ΡΠΎΠ²ΡΠ΅ΠΌΠ΅Π½Π½ΡΡ
ΠΌΠ΅ΡΠΎΠ΄ΠΎΠ² ΠΌΠΎΠ»Π΅ΠΊΡΠ»ΡΡΠ½ΠΎ-Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠΉ Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠΈ ΡΠ°ΡΡΠΈΡΡΡΡΡΡ Π·Π½Π°Π½ΠΈΡ Π² ΠΏΠΎΠ½ΠΈΠΌΠ°Π½ΠΈΠΈ Π³Π΅Π½Π΅ΡΠΈΠΊΠΈ ΡΠ΅ΠΌΠ΅ΠΉΠ½ΡΡ
ΠΌΡΠ»ΡΡΠΈΡΠ°ΠΊΡΠΎΡΠ½ΡΡ
ΡΠΎΡΠΌ ΠΠΠ‘, ΡΡΠΎ Π²Π°ΠΆΠ½ΠΎ ΡΡΠΈΡΡΠ²Π°ΡΡ Π² ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠΉ ΠΏΡΠ°ΠΊΡΠΈΠΊΠ΅ Π²ΡΠ°ΡΠ΅ΠΉ-Π½Π΅Π²ΡΠΎΠ»ΠΎΠ³ΠΎΠ². ΠΡΡΠ²Π»Π΅Π½ΠΈΠ΅ Π³Π΅Π½ΠΎΠ², ΠΎΡΠ²Π΅ΡΡΡΠ²Π΅Π½Π½ΡΡ
Π·Π° Π²ΠΎΠ·Π½ΠΈΠΊΠ½ΠΎΠ²Π΅Π½ΠΈΠ΅ ΠΠΠ‘, Π° ΡΠ°ΠΊΠΆΠ΅ ΠΏΠΎΠ½ΠΈΠΌΠ°Π½ΠΈΠ΅ ΠΊΠΎΠ½ΠΊΡΠ΅ΡΠ½ΡΡ
ΠΏΠ°ΡΠΎΠ³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΡ
ΠΌΠ΅Ρ
Π°Π½ΠΈΠ·ΠΌΠΎΠ² ΡΠ°Π·Π²ΠΈΡΠΈΡ Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΡ ΠΈΠ³ΡΠ°ΡΡ ΠΊΠ»ΡΡΠ΅Π²ΡΡ ΡΠΎΠ»Ρ Π² ΡΠ°Π·ΡΠ°Π±ΠΎΡΠΊΠ΅ ΡΡΡΠ΅ΠΊΡΠΈΠ²Π½ΡΡ
ΡΠ΅ΡΠ°ΠΏΠ΅Π²ΡΠΈΡΠ΅ΡΠΊΠΈΡ
ΡΡΡΠ°ΡΠ΅Π³ΠΈΠΉ
Individual neuropsychological characteristics in patients with juvenile myoclonic epilepsy
Background. An association between juvenile myoclonic epilepsy (JME) and nonpsychotic psychiatric and cognitive disorders has been described in recent years. Scientists are trying to link JME with certain personality traits marked by emotional
instability.
Objective. The goal of our research was to assess the state of cognitive functions in young adult patients with JMEβexcluding the adverse side effects (ASEs) of antiepileptic drugs (AEDs)βand analyze the level of personality and situational anxiety, neuroticism, and depression in young adult patients with JME.
Design. We tested 26 patients with JME and 26 healthy adults with the computer program NS-PsychoTest (Neurosoft Company, RF), a program which is aimed at studying and evaluating neuropsychological characteristics.
Results. Our study showed that the frequency of depressive symptoms, according to the cognitive-affective subscale (Beckβs Depression Inventory), in patients with JME was statistically significantly higher than among people without epilepsy. Comorbid
personality and nonpsychotic psychiatric disorders are common interdisciplinary problems in JME management. Most practitioners pay attention only to the treatment of seizures caused by JME, and their patients, accordingly, do not receive adequate psychotherapeutic help.
Conclusion. Cognitive disorders are often associated with epilepsy, and are a result of a combination of factors. According to our study, in the presence of statistically significant differences in short-term memory and mental performance in patients
with JME, compared to healthy young adults, the main indicators of cognitive function in patients with JME generally correspond to the norm. Our findings highlight the etiological heterogeneity of cognitive disorders in JME and the importance of
early screening for them
Herpesvirus-associated central and peripheral nervous system involvement: two clinical cases
Herpesviruses can directly affect the structure of the nervous system, resulting in encephalitis, and also induce immune-mediated disorders ofΒ the peripheral nervous system as sensory-predominant chronic inflammatory demyelinating polyneuropathy (CIDP). Patients with immunodeficiencyΒ may simultaneously develop two pathological processes, determining the severity of the condition. Parainfectious limbic encephalitisΒ (PILE) associated with viruses from the family Herpes viridae is a form of chronic herpes encephalitis, which is characterized by dysfunctionΒ of the limbic system and by a long-term course with exacerbations. CIDP is a dysimmune disease leasing to peripheral nervous system involvement,Β which belongs to a class of myelinopathies. The paper describes two clinical cases of a concurrence of chronic PILE and CIDP in middle-aged men who have symptomatic status epilepticus and iatrogenic complications. It characterizes difficulties in diagnosis and the clinicalΒ features of chronic herpes infection involving the central and peripheral nervous systems. The given clinical cases suggest that not only neurologistsand epileptologists, but also resuscitation specialists and ngiosurgeons should be particularly alert to the pathology in question
Social adaptation and quality of life in reproductive-aged women with epilepsy
The quality-of-life indicators are integral characteristics of treatment and diagnostic measures in modern epileptology.Objective: to assess the social adaptation and quality of life in reproductive-aged women with epilepsy.Subjects and methods. A sociological survey using the Quality of Life Satisfaction questionnaire and the European Quality of Life-5 Dimensions (EQ-5D) was carried out in 352 women living in the Krasnoyarsk Territory.Results. At the time of the study, 21.3% of the patients were unemployed. Disability related to epilepsy was in 13.1% of women, mainly in those with cryptogenic (22.3%) and symptomatic (14.4%) epilepsy. Most of the women were unsatisfied with their job activity (55.1%), financial status (64.6%), and physical health (65.3%). Mainly the patients with symptomatic epilepsy reported dissatisfaction with their psychological status. The patients had employment problems (12.5%), inability to work in their specialty (12.5%) and to get the desired specialty (10.3%), and labor maladaptation (8.8%). There was a preponderance of women with higher education (40.3%) and 21.3% continued their studies. Warm family relations and help from relatives and friends (65.4%), hope for their recovery (50.7%), contacts with their friends (30.1%), and plans for future (34.6%) were important for the women to control the disease.Conclusions. The findings suggest that family, personal, maternity problems are more important causes of social maladaptation in epileptic women
Cytokine Gene Polymorphisms in Chronic Adenoiditis
The aim of our research was to study the multiphase response in a system of pro-inflammatory and anti-inflammatory cytokines due to the additive contribution of homozygous and heterozygous genotypes for the polymorphic allelic variants of the interleukin-1Ξ² (IL-1Ξ²) and interleukin-4 (IL-4) genes in patients with chronic adenoiditis (CA).
Materials and Methods: The study included 388 children with CA. Associations between the IL1B gene (rs1143634) (C+3954T) SNP and the IL-4 gene (rs2243250) (C-589T) SNP and the clinical manifestations and clinical outcome of CA were investigated. Genotyping for the studied SNPs was performed using real-time PCR. The study of genotype-associated cytokine production in accordance with the level of concentration of IL-1Ξ², IL-4 in blood serum with the method of solidphase EIA using horseradish peroxidase as an indicating enzyme was carried out.
Results: The presence of homozygous or heterozygous genotypes of the studied SNPs of the IL-1Ξ² and IL-4 genes was characterized with genetically determined cytokine-production forming the phenotypical polymorphism. The conducted research into congenital immunity factors with an assessment of genetically determined cytokine production has revealed 5 options of the cytokine response and their corresponding frequencies. We extrapolated the results on clinical and functional outcomes of chronic adenoiditis, which allowed us to identify non-randomness in the nature of chronic adenoiditis as a multifactorial disease.
Conclusion: The obtained data are evidence of the phenotypic-genetic heterogeneity of CA
Organization experience of diagnostic and medicosocial services for patients with CharcotβMarieβTooth disease in Krasnoyarsk region
Hereditary neuropathy Charcot-Marie-Tooth (CMT) is the most common form of hereditary polyneuropathies. Goal of the study was theΒ development of evidence-based diagnostic and treatment algorithms using patients with CMT (for example, in Krasnoyarsk Territory).Materials and methods: A total of 324 people. (probands and their relatives 1 and 2 lines of kinship). We analyzed 125 (38,5 %) clinicalΒ cases of CMT, 64/125 (51,2 %) clinical cases were include to statistical analysis (probands and their family trees, past the full rangeΒ of clinical and laboratory findings according to the protocol this study). Age ranged from 6 to 81 years, median age β 30,5 years, includingΒ women 24 (37,5 %), median age β 33,5 years; males 40 (62,5 %), median age β 28,5 years. Methods of diagnosis: clinical, genetic,Β neurophysiological, molecular genetic, assessment of quality of life assessment of anxiety and depression.Results: The family history of CMT noted in 53/57 (93,0 %) cases, with a predominance of autosomal dominant type of inheritance β52 (91,2 %) cases. As a result of DNA testing duplication of peripheral myelin protein gene (RMR22) on chromosome 17, held 34 survey,Β this mutation was found in 17 (50,0 %) patients. Modified method of computer esthesiometry for CMT diagnosis using domestic diagnosticΒ equipment βVibrotester-MBNβ BT-02-1 has a high sensitivity in the early stages of the disease and can be recommended for more widespreadΒ adoption of on par with other subjects of the Russian Federation
Π€Π°ΡΠΌΠ°ΠΊΠΎΠ³Π΅Π½Π΅ΡΠΈΠΊΠ° Π°Π½ΡΠΈΡΠΏΠΈΠ»Π΅ΠΏΡΠΈΡΠ΅ΡΠΊΠΈΡ ΠΏΡΠ΅ΠΏΠ°ΡΠ°ΡΠΎΠ²
There are some generalized data on a problem pharmacogenetics researches antiepileptic drugs on the basis of the analysis of the accessible native andΒ foreign literature in this review.Π Π½Π°ΡΡΠΎΡΡΠ΅ΠΌ ΠΎΠ±Π·ΠΎΡΠ΅ Π½Π° ΠΎΡΠ½ΠΎΠ²Π΅ Π°Π½Π°Π»ΠΈΠ·Π° ΠΎΡΠ΅ΡΠ΅ΡΡΠ²Π΅Π½Π½ΠΎΠΉ ΠΈ Π·Π°ΡΡΠ±Π΅ΠΆΠ½ΠΎΠΉ Π»ΠΈΡΠ΅ΡΠ°ΡΡΡΡ ΠΎΠ±ΠΎΠ±ΡeΠ½Ρ ΡΠ²Π΅Π΄Π΅Π½ΠΈΡ ΠΎ ΠΏΡΠΎΠ±Π»Π΅ΠΌΠ΅ ΡΠ°ΡΠΌΠ°ΠΊΠΎΠ³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΡ
ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΠΉ Π°Π½ΡΠΈΡΠΏΠΈΠ»Π΅ΠΏΡΠΈΡΠ΅ΡΠΊΠΈΡ
ΠΏΡΠ΅ΠΏΠ°ΡΠ°ΡΠΎΠ²
The late diagnosis of double cortex syndrome in a 36-year-old woman with resistant atonic seizures
Subcortical laminar heterotopia (double cortex syndrome) is an orphan disease with an incidence of 1 to 200,000 people in the population. The cause of the disease is mutation of the gene DCX (synonyms: DBCN, XLIS) in chromosome Xq22.3-q23. The type of inheritance is X-linked dominant. Correct diagnosis requires a high degree of skills of a neurologist/epileptologist and a radiologist. The paper describes a clinical case of the late diagnosis of double cortex syndrome in a 36-year-old woman with a long history of resistant atonic seizures and mental retardation
Association Between IL1B and SCN1A Polymorphism and Febrile Seizures in Children in Siberia
Background: Febrile seizures (FS) are a benign, age-dependent, genetically determined state, in which the childβs brain is susceptible to epileptic seizures occurring in response to hyperthermia. We assessed whether polymorphisms of IL1B and SCN1A genes, encoding the proinflammatory cytokine IL1B and SCN1A, respectively, could help to predict FS development and find a new way to treat FS.
Methods: We examined 121 children with FS and 30 children with HTS aged from 3 to 36 months. SNPs rs1143634 and rs16944 of IL1B gene, and rs3812718 and rs16851603 of SCN1A gene were determined by quantitative real-time PCR.
Results: The analysis for rs1143634 revealed an association between the CC genotype and increased risk of FS development (OR 6.56; P=0.0008) against the background of acute respiratory viral infection. The same result was obtained for rs16944 (OR 3.13; P=0.04) and an association of two homozygous genotypes CC/CC. For rs3812718, the carriage of heterozygous genotype CT demonstrated a direct relationship with FS development (OR 44.95; P=0.000).
Conclusion: Children with high FS risk need preventive treatment and joint observation of a pediatrician, pediatric infectionist, and a neurologist-epileptologist
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