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1.
Article in Russian | MEDLINE | ID: mdl-37966443

ABSTRACT

OBJECTIVE: The study of the efficacy and safety of drug Ampasse in the treatment of mild cognitive impairment syndrome (MCI) in patients with chronic cerebral ischemia (CCI) and as an adjuvant therapy in the treatment of chronic pain syndromes of various origins. MATERIAL AND METHODS: 50 patients with an average age of 67±7.4 years with MCI syndrome against the background of CCI, suffering from chronic pain syndromes of various origins, received the drug Ampasse at a dose of 25 mg per day intravenously by bolus for 15 days. At the screening visit, day 15 of therapy, day 30, and day 180 of the observation period, cognitive functions, emotional sphere, severity of pain syndrome, sleep quality, and quality of life were assessed. RESULTS: In 95% of patients during therapy, an improvement in cognitive functions was noted (increase by 2 points on scales MoCA and MMSE, p<0.05). The maximum severity of cognitive improvement was achieved by the 30th day of observation. By the 180th day of observation, 5% of patients had returned to their original cognitive status, which is probably due to the need for a repeated course of therapy to maintain the clinical effect. The antiamnestic effect of Ampasse was also manifested in patients with a multifunctional amnestic phenotype of MCI, which may indicate a comorbidity with a neurodegenerative disease. A total of 84% of patients experienced a decrease in pain intensity during treatment (decrease by 2.3 points on VAS, decrease in consumption of analgesics by 1.5 tablets per day, p<0.05). This effect persisted throughout the observation period and was associated with improved sleep quality. In the course of treatment, no cases of anxiety or depression were detected. All patients showed an improvement in their quality of life according to the scale SF-36. The use of Ampasse showed a good level of tolerability and safety. CONCLUSION: The use of Ampasse is effective and safe in the treatment of MCI in CCI and helps to reduce the clinical manifestations of pain syndromes of various origins. The mechanism of the analgesic action of Ampasse, as well as the need for and optimal timing of repeated courses of therapy, require further study.


Subject(s)
Brain Ischemia , Chronic Pain , Cognitive Dysfunction , Neurodegenerative Diseases , Humans , Middle Aged , Aged , Quality of Life , Cognitive Dysfunction/drug therapy , Cognitive Dysfunction/etiology , Brain Ischemia/complications , Brain Ischemia/drug therapy
2.
Zh Nevrol Psikhiatr Im S S Korsakova ; 123(8. Vyp. 2): 77-83, 2023.
Article in Russian | MEDLINE | ID: mdl-37682099

ABSTRACT

OBJECTIVE: The dependence of result of cognitive training in patients who have suffered an ischemic stroke (IS) on the timing of their onset continues to be discussed. The aim was to study the results of cognitive rehabilitation of patients after IS during various periods after it. MATERIAL AND METHODS: 140 patients were examined during complex rehabilitation in terms up to 1, 2-3, 4-6 and 7-12 months after IS, 78 of them received drug support (DS) of rehabilitation with intravenous injections of ampasse. The Montreal Cognitive Assessment (MoCA) and Hospital Anxiety and Depression Scale (HADS) were used to monitor the effectiveness of rehabilitation. RESULTS: In all subgroups, there was a statistically significant increase in the MoCA score after the course, but number of people with an increase in the score by 1 or more points was highest among those who started the course 3 or more months after the development of IS (p=0.015). Among those who received DS, an increase in the MoCA was noted in 87.2%, in those who did not receive it - 38.7% (p<0.001). There was no statistically significant increase in the severity of anxiety and depression after the course of treatment in any of the subgroups. CONCLUSION: The used approach of a combination of cognitive, physical rehabilitation and DS proved to be justified for achieving results during a two-week course of inpatient rehabilitation of patients both in the early and late recovery period after IS.


Subject(s)
Ischemic Stroke , Humans , Cognitive Training , Anxiety/etiology , Anxiety Disorders , Injections, Intravenous
3.
Photochem Photobiol Sci ; 22(11): 2483-2497, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37747667

ABSTRACT

The present paper reports on the synthesis and characterization of a new chemosensor for fluoride ions, a hydrazone derived from pyridoxal 5'-phosphate and benzothiazole. The structure of the chemosensor was confirmed using 1H and 13C NMR, FT-IR and mass spectroscopy. The conformational diversity of the chemosensor influencing the sensor activity was studied by the quantum chemistry methods on the B3LYP/6-311++G(d, p) (H, C, N, O, P, S) level, and the optimal structure of the chemosensor was chosen. The selective capability of detecting F- in the aqueous solution, which also contains Cl-, Br-, I-, NCS-, ClO4-, HSO4-, and NO3- was demonstrated. The detection limit (LOD) for fluoride ions was 0.22 µM as determined by the 3σ method. The turn-on effect in the presence of fluoride ions is based on the deprotonation of the chemosensor and its subsequent aggregation in DMSO. In addition, the chemosensor was used for the detection and estimation of F- in real samples using fluorescence spectroscopy.

4.
Vestn Otorinolaringol ; 88(3): 8-12, 2023.
Article in Russian | MEDLINE | ID: mdl-37450384

ABSTRACT

OBJECTIVE: To assess the effect on the duration and course of the nasal mucosa function recovery after anterior nasal packing during surgery involving the nasal septum and inferior nasal conchae combined with concomitant therapy with the herbal medicinal product Sinupret extract (Bionorica SE, Germany). MATERIAL AND METHODS: The study included 25 males aged 18-50 (the main group), permanent residents of the Novosibirsk region diagnosed with deviated nasal septum at least 2 years ago. All patients underwent rhinoseptoplasty with nasal packing with gauze tampons for 24 hours at the clinical base of the Otorhinolaryngology Department of the Novosibirsk State Medical University.Patients of the main group received Sinupret extract 1 tablet BID for 10 days before the planned rhinoseptoplasty and 7 days after the rhinoseptoplasty. Patients in control group 1 (n=16) received Sinupret 2 coated tablets TID for 10 days before the surgery and 7 days after the surgery. Patients in control group 2 (n=16) did not receive secretory therapy in the preoperative and postoperative periods of rhinoseptoplasty. RESULTS: The herbal medicinal product improved nasal breathing. All studied parameters demonstrated the benefit of the treatment including Sinupret extract (p<0.05). On day 5 in patients of the main study group, nasal breathing was normal, and nasal crusting was reduced due to activation of the mucous membrane secretory function. Nasal mucosa ciliary clearance was better in patients in the main group than in patients in the control groups at all stages of the study. Sinupret extract for 10 days before and 5 days after the surgery helps reduce nasal crusting and restore nasal breathing by day 2 and normalizes ciliary clearance by day 5 after nasal packing. CONCLUSION: Due to the wide use of nasal packing with gauze tampons, otorhinolaryngologists commonly administer herbal medicinal products as a means of drug protection of the nasal mucous membrane.


Subject(s)
Nasal Mucosa , Rhinoplasty , Male , Humans , Rhinoplasty/adverse effects , Nasal Septum/surgery , Epistaxis/surgery , Phytotherapy , Tampons, Surgical
5.
Chaos ; 33(3): 031102, 2023 Mar.
Article in English | MEDLINE | ID: mdl-37003802

ABSTRACT

In our work, we compare EEG time-frequency features for two types of K-complexes detected in volunteers performing the monotonous psychomotor test with their eyes closed. Type I K-complexes preceded spontaneous awakenings, while after type II K-complexes, subjects continued to sleep at least for 10 s after. The total number of K-complexes in the group of 18 volunteers was 646, of which of which type I K-complexes was 150 and type II K-complexes was 496. Time-frequency analysis was performed using continuous wavelet transform. EEG wavelet spectral power was averaged upon several brain zones for each of the classical frequency ranges (slow wave, δ, θ, α, ß1, ß2, γ bands). The low-frequency oscillatory activity ( δ-band) preceding type I K-complexes was asymmetrical and most prominent in the left hemisphere. Statistically significant differences were obtained by averaging over the left and right hemispheres, as well as projections of the motor area of the brain, p<0.05. The maximal differences between the types I and II of K-complexes were demonstrated in δ-, θ-bands in the occipital and posterior temporal regions. The high amplitude of the motor cortex projection response in ß2-band, [20;30] Hz, related to the sensory-motor modality of task in monotonous psychomotor test. The δ-oscillatory activity preceding type I K-complexes was asymmetrical and most prominent in the left hemisphere may be due to the important role of the left hemisphere in spontaneous awakening from sleep during monotonous work, which is an interesting issue for future research.


Subject(s)
Electroencephalography , Wavelet Analysis , Humans , Brain/physiology , Sleep , Cerebral Cortex
6.
Article in Russian | MEDLINE | ID: mdl-36168688

ABSTRACT

Increased interest in glutamatergic neurotransmission emerged in the second half of the twentieth century. Later, the role of glutamate neurotransmission in learning and memory processes became clear. AMPA receptors (AMPR) and NMDA receptors (NMDAR) turned out to be important links in the mechanism of long-term potentiation (LTP) involved in memory processes, which was expressed in an increase in the excitatory postsynaptic potential in response to repeated stimuli. The data obtained in recent decades indicate that AMPR is the main regulators of synaptic plasticity, learning and memory. In clinical terms, the greatest interest is not the formation of memory traces in various parts of the brain, but its restoration in various pathological processes, including reactivation of connections between neurons activated by learning in various areas of the brain. AMPAR synaptic plasticity disorder has been detected in several neurodegenerative diseases accompanied by cognitive disorders. Ampakines, a heterogeneous class of numerous small molecules that bind to the allosteric site on the AMPAR receptor, which slows down the kinetics of AMPAR deactivation, enhances excitatory synaptic current and enhances LTP, have become increasingly attracting the attention of researchers.


Subject(s)
Receptors, AMPA , Receptors, N-Methyl-D-Aspartate , Glutamic Acid/metabolism , Hippocampus/metabolism , Humans , Neuroprotection , Receptors, AMPA/metabolism , Receptors, N-Methyl-D-Aspartate/metabolism , Synapses , Synaptic Transmission
7.
Arch Razi Inst ; 77(1): 375-381, 2022 02.
Article in English | MEDLINE | ID: mdl-35891772

ABSTRACT

Pancreatic hemorrhage is one of the most severe complications of various pancreatic diseases that are difficult to treat even in multidisciplinary hospitals. Mortality from pancreatic hemorrhage can reach up to 80%. This study aimed to evaluate the possibility of maintaining endovascular homeostasis in the treatment of patients with pancreatic hemorrhage. This retrospective multicenter study included 45 patients (33 men and 12 women) in the age range of 27-84 years. More than 50% (n=23) of the patients were diagnosed with chronic pancreatitis. Malignant pancreatic lesions were observed in 22 patients; of whom11 patients had acute necrotizing pancreatitis. Acute bleeding was observed in 39 (86.6%) patients, and 6 (13.3%) patients showed chronic symptoms. Single-shot and recurrent bleeding was recorded in 22(48.9%) and 23 (51.1%) patients. In total, 57 patients underwent endovascular surgery. Moreover, 45 patients underwent primary surgery and another 12 (2.2%) underwent reoperation due to recurrent bleeding. Intraoperative complications occurred in 1 (2.2%) patient, and postoperative complications occurred in another. Out of all 45 patients, seven patients had 15 episodes of recurrent bleeding, of whom four patients showed recurrent bleeding at the in-hospital period, and the other three were under local supervision after the previous endovascular intervention. Out of the 45 patients, 35 (77.7%) survived and another 10 (22.2%) died due to multiple organ failure (n=8) and recurrent bleeding and hemorrhagic shock (n=2). Out of 10 patients who died, 4, 3, and 3patients showed malignant pancreatic lesions after surgery, acute pancreatitis, and chronic pancreatitis, respectively. Endovascular hemostatic interventions can significantly increase the survival rate in severe groups of patients with pancreatic bleeding. Endovascular hemostasis is a safe procedure and may be called the "method of choice" in the treatment of pancreatic bleeding, especially in combination with percutaneous draining, aspiration, and injection of liquid embolic agents into leakage of pancreatic juice.


Subject(s)
Hemorrhage , Pancreatic Neoplasms , Pancreatitis, Chronic , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Acute Disease , Hemorrhage/etiology , Hemorrhage/therapy , Hemostasis , Pancreatic Neoplasms/complications , Pancreatitis, Chronic/complications
8.
Russ J Gen Chem ; 92(6): 1005-1010, 2022.
Article in English | MEDLINE | ID: mdl-35756101

ABSTRACT

The results of experimental studies of the interaction of the S-protein with a monohetaryl-substituted porphyrin containing a benzimidazole residue are presented. It has been revealed that the S-protein forms high-affinity complexes with the specified porphyrin. The porphyrin binding by the SARS-CoV-2 S-protein has proceeded stepwise; at the first stage, the driving force of the complexation is electrostatic interaction between the surface negatively charged regions of the protein and cationic substituents of the porphyrin. At the second stage, the target complex of the S-protein with the porphyrin is formed. It has been established that the introduction of 5-[4'-(N-methyl-1,3-benzimidazol-2-yl)phenyl]-10,15,20-tri-(N-methyl-3'-pyridyl)porphyrin triiodide into a solution of the S-protein complex with the angiotensin-converting enzyme leads to the replacement of the latter with the porphyrin. Displacement of the angiotensin-converting enzyme from the complex with the S-protein under the action of 5-[4'-(N-methyl-1,3-benzimidazol-2-yl)phenyl]-10,15,20-tri-(N-methyl-3'-pyridyl)porphyrin triiodide is the experimental evidence for the porphyrin binding at the receptor-binding domain of the S-protein.

9.
Gene ; 811: 146109, 2022 Feb 15.
Article in English | MEDLINE | ID: mdl-34871761

ABSTRACT

Spinal muscular atrophy is a progressive motor neuron disorder caused by deletions or point mutations in the SMN1 gene. It is not known why motor neurons are particularly sensitive to a decrease in SMN protein levels and what factors besides SMN2 underlie the high clinical heterogeneity of the disease. Here we studied the methylation patterns of genes on sequential stages of motor neuron differentiation from induced pluripotent stem cells derived from the patients with SMA type I and II. The genes involved in the regulation of pluripotency, neural differentiation as well as those associated with spinal muscular atrophy development were included. The results show that the PAX6, HB9, CHAT, ARHGAP22, and SMN2 genes are differently methylated in cells derived from SMA patients compared to the cells of healthy individuals. This study clarifies the specificities of the disease pathogenesis and extends the knowledge of pathways involved in the SMA progression.


Subject(s)
Induced Pluripotent Stem Cells/physiology , Motor Neurons/physiology , Muscular Atrophy, Spinal/genetics , Cell Differentiation , Cells, Cultured , DNA Methylation , GTPase-Activating Proteins/genetics , GTPase-Activating Proteins/metabolism , Gene Expression Regulation, Developmental , Humans , Neurogenesis , PAX6 Transcription Factor/genetics , PAX6 Transcription Factor/metabolism , Survival of Motor Neuron 1 Protein/genetics , Survival of Motor Neuron 1 Protein/metabolism , Survival of Motor Neuron 2 Protein/genetics , Survival of Motor Neuron 2 Protein/metabolism
10.
Article in Russian | MEDLINE | ID: mdl-34932282

ABSTRACT

OBJECTIVE: Study of the effectiveness of the use of the drug Ampasse in the process of complex rehabilitation in patients in the early recovery period of ischemic stroke at the second (stationary) stage. MATERIAL AND METHODS: The study included 60 patients, 28 women and 32 men, aged 43 to 76 years (mean - 58.4±9.1 years), in the recovery period after suffering a stroke in the period from 1 to 12 months (on average - 4.7±3.5 months). All patients received complex rehabilitation, patients of the 1st group received additional intravenous injections of the drug Ampasse 25 mg (5.0 ml), 15 injections. Patients of the 2nd group (n 0) did not receive Ampasse. To assess cognitive functions, the following tests were used: the Montreal Cognitive Assessment Scale (MoCA), Stroop's test, subtest 9 of the Wechsler test, Koos cubes (CC), the severity of anxiety and depression was assessed, and motor recovery was assessed by the hand motor activity test (ARAT). The assessment was carried out before the start of treatment and on the 21st day. RESULTS: There was a statistically significant increase in the score on the MoCA scale, in patients of the 1st group by an average of 2 points, in the 2nd group there was no significant dynamics, a statistically significant difference was found in the proportion of patients who had an increase in the MoCA index after the course of treatment in the 1st group. compared with the 2nd (χ2 - 22.528, p<0.001). Decreased the level of rigidity according to the Stroop test in patients of the 1st group compared with the 2nd (χ2 - 8.297, p=0.004). The number of patients who showed positive dynamics in the Koos cubes test in the 1st group was statistically significantly higher (χ2- 4.344, p=0.038). A statistically significant decrease in the level of depression was revealed in patients of the 1st group. The number of patients with improved motor function of the hand was greater in the 1st group of MG (χ2 - 4.286, p<0.039). CONCLUSION: In patients in complex therapy receiving intravenous administration of the drug Ampasse at a dose of 25 mg (5.0 ml) 15 administrations, a statistically significant improvement in cognitive functions was revealed according to MoCA tests, Stroop test, Koos Cubes, when compared with the comparison group. The use of Ampasse increased the effectiveness of cognitive and motor rehabilitation in patients with post-stroke disorders.


Subject(s)
Brain Ischemia , Ischemic Stroke , Stroke Rehabilitation , Stroke , Brain Ischemia/complications , Brain Ischemia/drug therapy , Cognition , Female , Humans , Male , Stroke/complications , Stroke/drug therapy , Treatment Outcome
11.
Russ J Gen Chem ; 91(6): 1039-1049, 2021.
Article in English | MEDLINE | ID: mdl-34345157

ABSTRACT

Novel porphyrin compounds containing benzothiazole, benzoxazole, and benzimidazole moieties have been prepared and their structures have been confirmed. Molecular docking of non-symmetric hetaryl-substituted porphyrins and chlorin e6 with SARS-CoV-2 helicase has been carried out. The affinity of hetaryl-substituted porphyrins to this protein has been found significantly higher than that of the drugs approved by the FDA and chlorin e6. The structure of the complexes of SARS-CoV-2 helicase with the considered macroheterocyclic compounds has been analyzed. Possible ways to inhibit and photoinactivate SARS-CoV helicase have been suggested basing on the localization of porphyrins and chlorin e6 in the helicase domains.

12.
Chaos ; 31(7): 073105, 2021 Jul.
Article in English | MEDLINE | ID: mdl-34340353

ABSTRACT

The study of coordinated behavior between different systems of the human body provides useful information on the functioning of the body. The peculiarities of interaction and coordinated dynamics of the heart rate and respiration are of particular interest. We investigated the coherence of the processes of respiration and autonomic control of the heart rate for people of different ages in the awake state, in sleep with rapid eye movement, and in deep sleep. Our analysis revealed a monotonic decrease in the coherence of these processes with increasing age. This can be explained by age-related changes in the system of autonomic control of circulation. For all age groups, we found a qualitatively similar dynamics of the coherence between the studied processes during a transition from the awake state to sleep.


Subject(s)
Autonomic Nervous System , Respiration , Aging , Heart Rate , Humans , Sleep
13.
Sci Rep ; 11(1): 14236, 2021 Jul 09.
Article in English | MEDLINE | ID: mdl-34244596

ABSTRACT

In this paper, we present the approach to complete Bell state analysis based on filtering mapping. The key distinctive feature of this appoach is that it avoids complications related to using either hyperentanglement or representation of the Bell states as concatenated Greenber-Horne-Zeilinger (C-GHZ) state to perform discrimination procedure. We describe two techniques developed within the suggested approach and based on two-step algorithms with two different types of filtration mapping which can be called the non-demolition and semi-demolition filtrations. In the method involving non-demolition filtration measurement the filtration process employs cross-Kerr nonlinearity and the probe mode to distinguish between the two pairs of the Bell states. In the case of semi-demolition measurement, the two states are unambiguously discriminated and hence destroyed, whereas filtraton keeps the other two states intact. We show that the measurement that destroys the single photon subspace in every mode and preserves the superposition of zero and two photons can be realized with discrete photodetection based on microresonator with atoms.

14.
Article in Russian | MEDLINE | ID: mdl-34184474

ABSTRACT

OBJECTIVE: To assess the efficacy and safety of the drug ampasse in the treatment of patients with chronic cerebrovascular disorders (CCVD). MATERIALS AND METHODS: A multicenter, randomized, double-blind, placebo-controlled, confirmatory study of the efficacy and safety of ampasse (phase III) was conducted in 124 patients aged 50 to 75 years. The main group (MG) - 62 patients, received the test drug ampasse, solution for intravenous administration, 5 mg/ml, at a dose of 5 ml (25 mg), intravenously bolus slowly, the duration of treatment was 15 days. Control group (CG) - 62 patients, received comparison drug: placebo (0.9% sodium chloride-5 ml). RESULTS: All 124 patients fully completed the procedures and visits, there were no dropouts from the study. The proportion of patients who reached the primary endpoint (an increase in the score by 2 or more points on the MoCA scale) was 83.87% in MG and 22.58% in CG, that is, the efficacy of therapy in MG was 61.29% higher than in CG (p<0.001), and good tolerability of the drug was proved. The secondary endpoint is an increase in quality of life (QOL) on the SF-36 V2 scale on Day 31. In MG, there was a statistically significant improvement in all indicators of QOL compared to the baseline. When assessing the safety spectrum, the proportion of patients who had adverse events was 14.52% in MG and 8.06% in CG (p=0.395). CONCLUSION: Ampasse has a positive effect on cognitive functions and QOL, does not increase the frequency of adverse events in patients with CCVD compared to placebo, does not cause significant side effects, and is well tolerated by patients.


Subject(s)
Cerebrovascular Disorders , Quality of Life , Aged , Cerebrovascular Disorders/drug therapy , Chronic Disease , Double-Blind Method , Humans , Middle Aged , Treatment Outcome
15.
Phys Rev E ; 103(4-1): 042404, 2021 Apr.
Article in English | MEDLINE | ID: mdl-34005986

ABSTRACT

The heart rate in humans is regulated by the autonomic nervous system, which modulates the frequency of heart contractions, resulting in heart rate variability (HRV). Therefore, to assess the activity of the autonomic nervous system, which contains important information for medical diagnostics, methods based on the analysis of interbeat interval variability are often used. This approach does not require the use of invasive methods for measuring the signals of the autonomic nervous system, but its accuracy is an open question. Using mathematical modeling, we investigate the possibility of extracting the signal of frequency modulation of the heartbeats from the electrocardiogram (ECG) signal and conduct a detailed comparison of the extracted signal with the real modulating signal. Since the quality of extraction of the signal of frequency modulation from the ECG depends on the method of demodulation, we compare two different approaches. One is based on the detection of the main oscillation rhythm and its bandpass filtering, and the other on the heterodyning technique. It is shown that low-frequency (LF) and high-frequency (HF) oscillations in HRV associated, respectively, with sympathetic and parasympathetic modulation by the autonomic nervous system, in the general case, significantly differ from the signals of frequency modulation of the heart rate in shape, but have close similarity with them in the frequency domain. We find that in model systems, the similarity of the LF component of HRV with sympathetic modulation of the heart rate is higher than the similarity of the HF component of HRV with parasympathetic modulation.


Subject(s)
Heart Rate , Autonomic Nervous System , Electrocardiography , Humans
16.
Phys Rev Lett ; 126(16): 162501, 2021 Apr 23.
Article in English | MEDLINE | ID: mdl-33961478

ABSTRACT

We report the first measurement of the average of the electron-proton and positron-proton elastic scattering cross sections. This lepton charge-averaged cross section is insensitive to the leading effects of hard two-photon exchange, giving more robust access to the proton's electromagnetic form factors. The cross section was extracted from data taken by the OLYMPUS experiment at DESY, in which alternating stored electron and positron beams were scattered from a windowless gaseous hydrogen target. Elastic scattering events were identified from the coincident detection of the scattered lepton and recoil proton in a large-acceptance toroidal spectrometer. The luminosity was determined from the rates of Møller, Bhabha, and elastic scattering in forward electromagnetic calorimeters. The data provide some selectivity between existing form factor global fits and will provide valuable constraints to future fits.

17.
Exp Oncol ; 43(1): 52-55, 2021 03.
Article in English | MEDLINE | ID: mdl-33785725

ABSTRACT

BACKGROUND: In Russia, more than 50,000 women are diagnosed with breast cancer (BC) every year. Russia is a multinational country - about 200 ethnic groups live on its territory. Khakass, Buryats, Tuvans and other ethnic groups show higher rate of increase in BC incidence and a younger age of first diagnosed BC compared to Caucasian ethnicities. We focused on Tuvan ethnic group to find specific genetic aberrations associated with BC. There are no BC prevention models as well as standards for the treatment of inherited BC in Tuvans. In this context, the search for genetic markers of early cancer detection and the development of criteria for therapy response are relevant. AIM: To identify hereditary mutations in BC-associated genes in Tuvan women. MATERIALS AND METHODS: 24 patients with early-onset BC (range, 25 to 46 years) were enrolled in the study. Genomic DNA isolated from blood samples was used to prepare libraries using a capture-based target enrichment kit covering 27 genes (ATM, APC, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PIK3CA, PMS2, PMS2CL, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53 and XRCC2). Next-generation sequencing was performed using the Illumina NextSeq500 System. RESULTS: In our study, one pathogenic mutation was detected in BRCA1 (rs80357868) gene (prevalence of 4%, 1/24). We identified the truncating 3875_3878delGTCT mutation of BRCA1 gene in Tuvans BC patient aged 34 years. We also detected three mutations that were probably damaging by PolyPhen2 and/or deleterious by SIFT in ATM (rs781023264), MUTYH (rs199840380) and RAD51D (rs145309168) genes. CONCLUSION: To the best of our knowledge, this is the first report that describes the highly pathogenic variant in the BRCA1 gene (rs80357868) and possibly damaging (PolyPhen2) germline variants in the ATM (rs781023264), MUTYH (rs199840380) and RAD51D (rs145309168) genes in young Tuvans BC patient.


Subject(s)
Biomarkers, Tumor/genetics , Breast Neoplasms/ethnology , Breast Neoplasms/genetics , Genetic Predisposition to Disease/ethnology , Genetic Predisposition to Disease/genetics , Adult , Age of Onset , Ataxia Telangiectasia Mutated Proteins/genetics , BRCA1 Protein/genetics , DNA Glycosylases/genetics , DNA-Binding Proteins/genetics , Ethnicity , Female , Genes, BRCA1 , Germ-Line Mutation , Humans , Incidence , Middle Aged , Russia
18.
Urologiia ; (5): 28-32, 2020 Nov.
Article in Russian | MEDLINE | ID: mdl-33185342

ABSTRACT

PURPOSE: to determine the characteristics of the surgeon training curve in the development of percutaneous nephrolithotripsy (PN). MATERIALS AND METHODS: The first 125 PNs performed by one team of surgeons were investigated. In chronological order, five groups of 25 operations were formed. The assessment was carried out according to the following parameters: the duration of the operation; the number of perioperative complications; stone free rate (SFR). RESULTS: With the advanced training of the surgical team, the duration of the operation tended to decrease; after 50 PN the time decreased from 164+/-12 to 113+/-11 minutes. The duration of the next 50 PN conducted in the third and fourth groups remained unchanged - 105+/-10 and 103+/-12 minutes. In the fifth group, a decrease in time to 99+/-9 minutes had no significant differences with the third and fourth groups. The frequency of complications tended to decrease up to the 75th operation, followed by a plateau. The structure was dominated by complications related, according to the modified Clavien-Dindo classification, to Grade I and Grade II. With the accumulation of surgeons experience, there was a tendency towards an increase in SFR: in the 1st group - 72%, in 2 - 84%, in 3 and 4 - 88%, in 5 - 92% (p<0,05). CONCLUSIONS: in order to achieve the average indicators of the duration and effectiveness of PN, the surgical team must have experience of at least 50 such operations. Due to the long training process, it is advisable to use PN in organization with an estimated number of such operations of at least 30 per year.


Subject(s)
Learning Curve , Lithotripsy , Lithotripsy/methods
19.
Urologiia ; (4): 171-174, 2020 Sep.
Article in Russian | MEDLINE | ID: mdl-32897033

ABSTRACT

The article reveals the formation and work of the Department of Urology during the Grear Patriotic War (1941-1945) based on the memories of its first head, professor A.I. Vasiliev.


Subject(s)
Military Medicine , Military Personnel , Urology , History, 20th Century , Humans
20.
Stem Cell Res ; 48: 101938, 2020 10.
Article in English | MEDLINE | ID: mdl-32795928

ABSTRACT

Spinal muscular atrophy (SMA) is a genetic disease, which characterized by the degeneration of motor neurons in the spinal cord and further striated muscle atrophy. The research of the processes in diseased neurons is complicated due to the impossibility of obtaining them safely from patients. Thus, we generated SMA type III induced pluripotent stem cell lines via using non-integrated episomal plasmid vectors. The resulting cell line expresses the major pluripotency markers and can differentiate in vitro into derivatives of three germ layers. The iPSC line can be used for further studies by providing in vitro the relevant cell types.


Subject(s)
Induced Pluripotent Stem Cells , Muscular Atrophy, Spinal , Spinal Muscular Atrophies of Childhood , Cell Line , Humans , Motor Neurons , Muscular Atrophy, Spinal/genetics
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