Analysis of haplotypes of CAT, TLR4, and IL10 genes in bronchial asthma patients comorbid with arterial hypertension

Co-occurrence of cardiovascular diseases is significantly common among patients with bronchial asthma. Genetic factors can have a significant effect on the development of hypertension in patients with asthma. Objective of the study was to investigate the associations of polymorphic variants relating to quantitative changes in the expression profile (eQTL) of the CAT, TLR4, and IL10 genes with the development of bronchial asthma co-morbid with arterial hypertension.Material and methods. Genotyping of 48 eQTL SNPs of the CAT, TLR4, and IL10 genes was performed using MALDI-TOF mass spectrometry in patients with «isolated» asthma (n = 145) and arterial hypertension (n = 144) and their combination (n = 146), as well as in the control group of healthy individuals (n = 152). Using logistic regression, an analysis of the associations of haplotypes with the studied diseases was carried out.Results. An association of bronchial asthma in combination with arterial hypertension with haplotypes formed by eQTL SNPs of the CAT and TLR4 genes was established. The spectrum of haplotypes associated with comorbidity of asthma and hypertension differs from the haplotypes associated with “isolated” asthma.Conclusion. The molecular base of asthma and hypertension comorbidity can be associated with variants that control the expression of TLR4 and CAT genes

Predictors of thromboembolic complications in patients with severe SARS-CoV-2 coronavirus infection

Aim. To identify predictors of the development of thromboembolic complications (TECs) in patients with severe SARS-CoV-2 coronavirus infection. Materials and methods. A single-center observational retrospective study included 1634 patients with a confirmed diagnosis of SARS-CoV-2 coronavirus infection. The patients were divided into 2 groups depending on the availability of the feasibility study. The criterion for inclusion of patients in the main group was the presence of venous feasibility studies in 127 patients (group I), the comparison group consisted of 1507 patients in whom the course of COVID-19 was not complicated by the development of feasibility studies (group II). Results. When performing computed tomography of the chest organs, it was revealed that patients with a feasibility study had a higher percentage of lung tissue damage than patients in the comparison group: 55% [37.5; 67.5] and 37.5% [25.0; 47.5], respectively (p0.001). The average values of C-reactive protein in I patients group were 129 [60.1; 211] ng/l, which was significantly higher than in II patients group – 41.0 [12.2; 97.6] ng/l (p0.001), interleukin-6 – 176 [52.9; 471] pg/ml and 39.4 [11.0; 107] pg/ml (p0.001), respectively. A one-factor regression analysis proved a significant contribution of comorbid pathology to the development of feasibility studies in patients with COVID-19. The presence of three nosologies at the same time: arterial hypertension, coronary heart disease (CHD) and chronic kidney disease increased the probability of a feasibility study by 4.81 times (odds ratio 4.8117, 95% confidence interval 3.2064–7.2207), in patients with arterial hypertension, CHD, chronic kidney disease and type 2 diabetes – by 5.63 times (odds ratio 5.6321, 95% confidence interval 3.1870–9.9531). Conclusion. The presence of severe comorbid pathology significantly increased the risk of developing a feasibility study in patients with COVID-19. The most significant predictors of the development of feasibility studies in patients with severe SARS-CoV-2 coronavirus infection. They are: CHD, arterial hypertension and type 2 diabetes

Rare coding SNP in DZIP1 gene associated with late-onset sporadic Parkinson's disease

We present the first application of the hypothesis-rich mathematical theory to genome-wide association data. The Hamza et al. late-onset sporadic Parkinson's disease genome-wide association study dataset was analyzed. We found a rare, coding, non-synonymous SNP variant in the gene DZIP1 that confers increased susceptibility to Parkinson's disease. The association of DZIP1 with Parkinson's disease is consistent with a Parkinson's disease stem-cell ageing theory.Comment: 14 page

Role of nonclostridial anaerobes in recurrent and residual staghorn development and clinical course

The problems of the etiology, pathogenesis and metaphylaxis of staghorn stones are considered to be the ones of the main in the current urology. Although, the different types of urea-splitting microorganisms are known to play the important role in staghorn calculi’s formation, the effect of the nonclostridial anaerobes is still understudied. The bacteriological analysis of urine specimen of 72 patients with staghorn stone was performed. The special mediums for isolating the nonclostridial anaerobes were used in addition to mediums for aerobes and typical anaerobes. In 94.4% cases the bacteria were found in the urine specimens. In 50% urine specimens anaerobes were seen in association with aerobes. The correlation between incidence of aerobe-anaerobes associations and residual stones was found, as well as with the glomerular filtration rates.Вопросы этиологии, патогенеза и метафилактики коралловидного нефролитиаза являются одним из актуальных направлений в современной урологии. Как известно, в образовании коралловидных конкрементов важная роль принадлежит различным видам уреазообразующих микроорганизмов, однако влиянии неклостридиальных анаэробов на патогенез и течение нефролитиаза в настоящее время остается неизученным. Выполнено бактериологическое исследование мочи 72 пациентам с коралловидными конкрементами. В дополнение к питательным средам для аэробных и факультативно-анаэробных бактерий, использовали среды для выделения неклостридиальных анаэробов. В 94,4% случаев выявлена микробная обсемененность мочи. В 50% случаях анаэробы регистрировали в моче в составе аэробно-анаэробных ассоциаций. Выявлена зависимость между частотой обнаружения аэробно-анаэробных ассоциаций и наличием резидуальных конкрементов, а также со скоростью клубочковой фильтрации

Enhanced tonic GABAA inhibition in typical absence epilepsy

The cellular mechanisms underlying typical absence seizures, which characterize various idiopathic generalized epilepsies, are not fully understood, but impaired GABAergic inhibition remains an attractive hypothesis. In contrast, we show here that extrasynaptic GABAA receptor–dependent ‘tonic’ inhibition is increased in thalamocortical neurons from diverse genetic and pharmacological models of absence seizures. Increased tonic inhibition is due to compromised GABA uptake by the GABA transporter GAT–1 in the genetic models tested, and GAT–1 is critical in governing seizure genesis. Extrasynaptic GABAA receptors are a requirement for seizures in two of the best characterized models of absence epilepsy, and the selective activation of thalamic extrasynaptic GABAA receptors is sufficient to elicit both electrographic and behavioural correlates of seizures in normal animals. These results identify an apparently common cellular pathology in typical absence seizures that may have epileptogenic significance, and highlight novel therapeutic targets for the treatment of absence epilepsy.peer-reviewe

Meta-analysis identifies seven susceptibility loci involved in the atopic March

Eczema often precedes the development of asthma in a disease course called the a 'atopic march'. To unravel the genes underlying this characteristic pattern of allergic disease, we conduct a multi-stage genome-wide association study on infantile eczema followed by childhood asthma in 12 populations including 2,428 cases and 17,034 controls. Here we report two novel loci specific for the combined eczema plus asthma phenotype, which are associated with allergic disease for the first time; rs9357733 located in EFHC1 on chromosome 6p12.3 (OR 1.27; P=2.1 × 10 a'8) and rs993226 between TMTC2 and SLC6A15 on chromosome 12q21.3 (OR 1.58; P=5.3 × 10 a'9). Additional susceptibility loci identified

Identification of Drosophila mutant with memory defects after acquisition of conditioned reflex suppression of courtship.

Four lines were selected from a collection of 33 lines prepared by P insertion mutagenesis using a single-copy P-element system; the males of these four lines showed memory defects after acquisition of conditioned reflex suppression of courting. In two lines (P171 and P95), the dynamics of retention of the conditioned reflex in the repeated impregnated-female courting test were similar to those of known short-term memory mutants dnc and rut. In line P153, the dynamics were more reminiscent of the memory dynamics in a known medium-term memory mutant, amn. In line P124, the learning index was insignificant immediately after training was completed, which may indicate that this line was unable to acquire conditioned reflex suppression of courting. Determination of the positions of the P elements (P171: 48A-B; P153: 49B-C; P124: 67B-68A; P95: 77C-D) showed no correspondence with previously known mutations producing memory lesions