Genetic Determinants of Time Perception Mediated by the Serotonergic System

Background: The present study investigates neurobiological underpinnings of individual differences in time perception. Methodology: Forty-four right-handed Russian Caucasian males (18–35 years old) participated in the experiment. The polymorphism of the genes related to the activity of serotonin (5-HT) and dopamine (DA)-systems (such as 5-HTT, 5HT2a, MAOA, DAT, DRD2, COMT) was determined upon the basis of DNA analysis according to a standard procedure. Time perception in the supra-second range (mean duration 4.8 s) was studied, using the duration discrimination task and parametric fitting of psychometric functions, resulting in individual determination of the point of subjective equality (PSE). Assuming the ‘dual klepsydra model ’ of internal duration representation, the PSE values were transformed into equivalent values of the parameter k (kappa), which is a measure of the ‘loss rate ’ of the duration representation. An association between time representation parameters (PSE and k, respectively) and 5-HT-related genes was found, but not with DArelated genes. Higher ‘loss rate ’ (k) of the cumulative duration representation were found for the carriers of genotypes characterized by higher 5-HT transmission, i.e., 1) lower 5-HT reuptake, known for the 5-HTTLPR SS polymorphism compared with LL, 2) lower 5-HT degradation, described for the ‘low expression ’ variant of MAOA VNTR gene compared with ‘high expression ’ variant, and 3) higher 5-HT2a receptor density, proposed for the TT polymorphism of 5-HT2a T102C gene compared with CC

Regional Arterial Stiffness in Patients with Inflammatory Bowel Disease

Aim.  To study muscular (brachial and radial arteries) and elastic (aorta) regional arterial stiffness in IBD patients in comparison with those without IBD, as well as to establish the relationship between arterial stiffness and the characteristics of the IBD course (the duration of illness, severity of attack, activity of systemic inflammation). Materials and methods. The study included 21 IBD patients and 30 patients in the comparison group. The values of regional aortic and muscular arterial stiffness were measured by applanation tonometry. The carotid–femoral pulse wave velocity (cfPWV) and the carotid-radial pulse wave velocity (crPWV) were determined. The laboratory research plan included the analysis of complete blood count, biochemical parameters, fibrinogen and a high sensitivity  C-reactive protein (hsCRP).Results. crPWV, similar to cfPWV, was not significantly different between the groups. At the same time, the proportion of individuals with an increase in the cfPWV of more than 10 m/s was higher in the group of IBD patients. However, these differences did not reach the level of statistical significance. According to the results of the correlation analysis, the increase in cfPWV was associated with an increase in patient age (r = 0.564; p = 0.01), the duration of IBD history (r = 0.628; p = 0.003), fasting plasma glucose (r = 0.367; p = 0.034) and GFR decrease (r = -0.482; p = 0.031). The crPWV also directly correlated with the IBD duration (r = 0.630; p = 0.003). According to the results of the regression analysis, an increase in the IBD duration by 1 year is associated with an increase in cfPWV by 0.205 m/s, i.e. the increase in the IBD duration by 5 years is associated with an increase in the cfPWV of approximately 1 m/s.Conclusion. In IBD patients, the duration of the disease directly correlated with an increase in cfPWV and crPWV. The increase in the IBD duration by 1 year was associated with an increase in cfPWV by 0.205 m/s. The muscular and elastic regional arterial stiffness was not statistically significantly different between IBD patients and the comparison group

Ultrasound examination of achilles tendons in patients with familial hypercholesterolemia

Aim. To assess the morphometric characteristics of Achilles tendons in patients with familial hypercholesterolemia (FH) and to identify factors associated with an increase in their size.Материал и  методы. Totally, 100 patients included, with severe primary hyperlipidemia, defined as an increase in total cholesterol ≥7,5 mM/L and/or lowdensity lipoprotein cholesterol ≥4,9 mM/L. All patients underwent duplex scanning of carotid arteries. Ultrasound examination of the Achilles tendons was carried out on an expert class ultrasound equipment Samsung Medison EKO 7 (Japan) with a linear sensor, frequency of 7-16 MHz. Thickness of the Achilles tendon (anteriorposterior dimension (APD)) was measured during scanning in the longitudinal section, width (transverse dimension (TD)) — scanning in the cross section. The measurements were made 2 cm proximal to the calcaneus.Results. Among the participants, 32 (32,0%) had definite/probable diagnosis of FH. In patients with definite/probable FH the mean values   of APD were significantly higher in comparison with patients scored 5 or less points (DLCN) — 5,50 (4,70-6,10) mm vs. 5,00 (4,50-5,40), respectively (p=0,04). TD of Achilles tendons among this category of patients was also statistically significantly higher in comparison with the rest of patients — 14,0 (12,9-15,4) mm and 13,2 (12,2-14,2) mm, respectively (p=0,04). In correlation analysis, the relationship between the growth of patients and the APD of the Achilles tendons (r=0,34, p=0,001), the TD of the Achilles tendon (r=0,28, p=0,009), CIMT and TD of the Achilles tendons (r=0,21, p=0,05), amount of carotid plaques and TD of the Achilles tendon (r=0,26, p=0,01), total percentage of stenosis of the carotid arteries and the TD of the Achilles tendons (r=0,27, p=0,01), maximum percentage of stenosis of the carotid arteries and the TD of the Achilles tendons (r=0,28, p=0,007). According to regression analysis, factors associated with an increase in thickness of the Achilles tendons for more than 75 percentiles were male sex, diabetes mellitus, height, myocardial infarction in relatives, total percentage of stenosis of the carotid arteries and high-density lipoproteide cholesterol.Conclusion. In patients with definite/probable FH, mean values of width and thickness of the Achilles tendons were significantly higher in comparison with the rest of the patients. According to regression analysis, the factors associated with the increase in thickness of the Achilles tendons fro more than 75 percentiles were male sex, diabetes mellitus, height, myocardial infarction in relatives, total percentage of stenosis of the carotid arteries and HDL high-density lipoproteide cholesterol

40-Hz Auditory Steady-State Response (ASSR) as a Biomarker of Genetic Defects in the <i>SHANK3</i> Gene: A Case Report of 15-Year-Old Girl with a Rare Partial <i>SHANK3</i> Duplication

SHANK3 encodes a scaffold protein involved in postsynaptic receptor density in glutamatergic synapses, including those in the parvalbumin (PV)+ inhibitory neurons—the key players in the generation of sensory gamma oscillations, such as 40-Hz auditory steady-state response (ASSR). However, 40-Hz ASSR was not studied in relation to SHANK3 functioning. Here, we present a 15-year-old girl (SH01) with previously unreported duplication of the first seven exons of the SHANK3 gene (22q13.33). SH01’s electroencephalogram (EEG) during 40-Hz click trains of 500 ms duration binaurally presented with inter-trial intervals of 500–800 ms were compared with those from typically developing children (n = 32). SH01 was diagnosed with mild mental retardation and learning disabilities (F70.88), dysgraphia, dyslexia, and smaller vocabulary than typically developing (TD) peers. Her clinical phenotype resembled the phenotype of previously described patients with 22q13.33 microduplications (≈30 reported so far). SH01 had mild autistic symptoms but below the threshold for ASD diagnosis and microcephaly. No seizures or MRI abnormalities were reported. While SH01 had relatively preserved auditory event-related potential (ERP) with slightly attenuated P1, her 40-Hz ASSR was totally absent significantly deviating from TD’s ASSR. The absence of 40-Hz ASSR in patients with microduplication, which affected the SHANK3 gene, indicates deficient temporal resolution of the auditory system, which might underlie language problems and represent a neurophysiological biomarker of SHANK3 abnormalities

URGENCY OF THE CHOICE OF THE ARRANGEMENT OF THE PLATE AT NAKOSTN THE OSTEOSYNTHESIS OF FRACTURES OF THE CLAVICLE IN A AVERAGE THIRD

Research of 42 patients with the closed changes of a diaphysis of a clavicle to which at a nakostny osteosynthesis plates in 22 cases on the top surface of a clavicle were established, and in 20 - on a forward surface is carried out. The rentgenografiya method is used, and also the analysis of value judgment is carried out by the patients of own condition. The plate arrangement on a forward surface of a clavicle led to decrease in number of complications, increase of stability and durability of fixing of a change