[A rare variant in the sortilin-related receptor 1 gene is associated with declined cognitive functions in the elderly]. / Redkii variant v gene sortilinpodobnogo retseptora 1: sviaz' s pokazateliami kognitivnykh funktsii u pozhilykh.

AIM: To estimate the association of rs11218343 in the sortilin-related receptor 1 (SORL1) gene with cognitive performance in the elderly and with Alzheimer's disease (AD) in the Russian population. MATERIAL AND METHODS: A sample included 586 elderly people (mean age 70.9±5.7 years) without AD diagnosis and 100 patients with late-onset AD (mean age 72.1±7.8 years) from the Tomsk population. SORL1 rs11218343 was genotyped using PCR and MALDI-TOF mass spectrometry. Cognitive performance in the sample of elderly without AD was assessed by Montreal Cognitive Assessment (MoCA) test. RESULTS: Allele frequencies of the SORL1 polymorphism were not significantly different between the elderly without AD and AD patients. However mean MoCA score in the carriers of the rare allele (19.00±6.61) was significantly lower than in homozygotes for the common variant (22.25±3.89) (F=4.97; p=0.026). CONCLUSION: The rare variant in SORL1 gene previously associated with AD in genome-wide association studies and meta-analyses was associated with lower total МоСА scores in the random sample of elderly people that suggests declined cognitive functions in the carriers of this variant in elderly.

[Abdominal pain in migraine patients]. / Abdominal'naia bol' u bol'nykh c migren'iu.

AIM: To study the frequency of comorbid abdominal pain in migraine patients and the influence of that symptom on the formation of disease phenotype. MATERIAL AND METHODS: Clinical features of migraine were studied in 66 patients with episodic migraine and 40 patients with chronic migraine. Presence of pain, intensity, duration of seizure-associated abdominal pain and interictal abdominal pain were assessed. RESULTS AND CONCLUSION: The frequency of abdominal pain in the painful phase of migraine was >11% and did not depend on the type of migraine. Pain in the abdomen were reported by 88% of patients, with the increase in the frequency in patients with chronic migraine. The intensity and frequency of abdominal pain did not depend on organic pathology of the digestive system. Correlations between the intensity and duration of abdominal pain during the migraine attack phase (k=0.59), between the intensity of associated pain and maladjustment severity (k=0.59), and also between the abdominal pain intensity during the painful phase and in the interictal period were identified. Allodynia developed more frequently in patients with abdominal pain between migraine attacks (РF=0.005). Also relationships between the level of intensity of interictal abdominal pain and the rates of alexithymia (k=0.24), anxiety (k=0.29) and depression (k=0.25) were revealed. The association of abdominal pain with disease severity and allodynia suggests similar development of these symptoms.

[Clinical significance of nausea in migraine]. / Klinicheskoe znachenie toshnoty pri migreni.

AIM: To study the prevalence and intensity of nausea in pain, prodromal and postdromal phases of migraine paroxysm, and in between the paroxysms in migraine patients, depending on the type of migraine paroxysm and frequency of pain days, and to evaluate an effect of nausea on the course of migraine. MATERIAL AND METHODS: One hundred and four patients with migraine, aged from 18 to 60 years, were examined. The intensity of nausea was evaluated by a 5-point verbal analogue scale, and its intensity in between the paroxysms by the Gastrointestinal Symptom Rating Scale. All of the patients underwent a complex examination of the gastrointestinal tract. RESULTS AND CONCLUSION: Paroxysms with accompanying nausea were found in 90% patients. Acute nausea was associated with older age, earlier onset and longer experience of migraine. In a group of patients with acute nausea, the frequency and intensity of migraine paroxysms, probability of reoccuring pain in the first day and the severity of social disability were higher. Development of nausea in between the paroxysms and its intensity was significantly higher in patients with high intensity of nausea in migraine paroxysms. Nausea in the prodrome was significantly associated with migraine without aura and chronicity of the disorder. Patients with nausea in the prodrome also had a longer painful phase and more severe social disability. No relationship between organic diseases of the digestive tract and nausea was found. Nausea can have its own pathological mechanisms not related to concomitant diseases of the digestive tract that should be taken into account in therapeutic interventions aimed at improving quality of life of the patients.

[Prevalence of alleles of polymorphic variants Leu33Pro and Leu66Arg gene ITGB3 among inhabitants of Siberia].

The frequency of the polymorphic variant T196C (Leu33Pro, rs5918) of ITGB3 gene was studied in several groups of inhabitants of Siberia, including pregnant women with reproductive disorders (n = 186), patients with acute coronary syndrome (n = 330), and population control (n = 858). The frequency of the rare PLA2 allele among residents of Tomsk and Kemerovo was 14.7 and 15.0% respectively. There were no differences in the allele and genotype frequencies of polymorphic variant between patients with acute coronary syndrome and the control group (p = 0.925, p = 0.622). The highest frequency of abnormal PLA2 allele (22.1%) and the PLA2/PLA2 genotype (8.8%) was observed among women, who had miscarried, which was significantly different from the frequency of this allele and genotype in the control group (14.7%, p = 0.017; 2.1%, p = 0.0009). Sequencing showed that all samples with the nonspecific band had the polymorphic rs5918 variant and rs36080296 mutations (T216G, Leu66Arg). The frequency of the rs36080296 mutation among the residents of Siberia was 0.51%. Among the women with reproductive disorders, the frequency of rs36080296 was 2.7%, while in the group who suffered from miscarriages, it was 4.4%; this was different from the frequency in the control group (0.08%, p = 0.2 x 10(-6)). The accumulation of mutations was also observed among men with acute coronary syndrome (0.6%), but the differences from the control group (0%) had no statistical significance.

[Spread and features of chronic and recurrent infectious diseases in patients with primary headache].

AIM: Study of spread and clinical-immunologic features of chronic and recurrent infectious diseases in patients with primary headache. MATERIALS AND METHODS: 158 patients with migraine and 79 patients with tension headache were examined. Diagnostics of chronic and recurrent infectious diseases were carried out by the appropriate specialists according to the current standards. Immunologic studies included evaluation of cellular, humoral, innate immunity, cytokine status parameters. RESULTS: Spread of chronic and recurrent infectious diseases, that were considered as clinical manifestations of secondary immunodeficiency, in patients with primary headache exceeded the spread in the population of the region. In the patients with a combination of cephalgia and infectious pathology a tendency of leucopenia, lymphocyte subpopulation composition disorders, neutrophil functional activity, IgG level decrease, cytokine system imbalance were characteristic. In chronic primary headache course rate of occurrence of infectious diseases and intensity of immune status disorders were higher than in episodic course of these cephalgias. CONCLUSION: Results of these studies suggest a connection between chronic and recurrent infectious diseases within secondary immunodeficiency with primary headache.

[Hypermyoglobinemia in ischemic heart disease]. / Issledovanie gipermioglobinemii pri ishemicheskoi bolezni serdtsa.

Serial blood measurements of myoglobin (MG) revealed a common trend of change in acute macro- and microfocal myocardial infarction, focal myocardial dystrophy, angina of effort and angina at rest as well as unstable angina. Differences in myoglobinemic parameters (MG peak level, increment rate, normalization time) between different clinical variants of CHD are quantitative. It is suggested that there is an intravital relationship between each of the examined clinical variants, in their acute phase, and a specific equivalent of an acute myocardial ischemic damage focus, as shown by the degree of hypermyoglobinemia.