Ring chromosomes are structural aberrations commonly associated with disease phenotype. We consider necessary to create the iPSCs with a ring chromosome 8, which can be used for disease modeling and ...related research. The ICGi025-A iPSCs line was obtained by the reprogramming of the skin fibroblasts from a 1-year-old boy with 46,XY,r(8)/45,XY,–8 mosaicism, developmental delay, microcephaly, dysmorphic features, diffuse muscle hypotonia, moderate proximal muscle weakness, feeding problems, and motor alalia. The iPSCs had expression of the pluripotency-associated markers. In vitro differentiated cells expressed the markers of the cells of three germ layers. That data allowed us to conclude that ICGi025-A cells were pluripotent.
Pallister-Killian syndrome (PKS) is a rare inherited disease with multiple congenital anomalies, profound intellectual disability, and the presence in the karyotype of sSMC - i(12)(p10). The ...frequency of PKS may be underestimated due to problems with cytogenetic diagnosis caused by tissue-specific mosaicism and usually a low percentage of peripheral blood cells containing sSMC. Such tissue-specific mosaicism also complicates a detailed analysis of the sSMC, which, along with the assessment of mosaicism in different tissues, is an important part of cytogenetic diagnosis in PKS. Unfortunately, a full-fledged diagnosis in PKS is either practically impossible or complicated. On the one hand, this is due to problems with the biopsy of various tissues (skin biopsy with fibroblast culture is most often used in practice); on the other - a low percentage of dividing peripheral blood cells containing sSMC, which often significantly complicates the analysis of its composition and organization. In the present study, a detailed analysis of sSMC was carried out in a patient with a characteristic clinical picture of PKS. A relatively high percentage of peripheral blood cells with sSMC (50%) made it possible to perform a detailed molecular cytogenetic analysis of
sSMC using chromosomal
suppression hybridization (CISS-hybridization), multicolor FISH (mFISH), multicolor chromosome banding (MCB), array CGH (aCGH), and quantitative real-time PCR (qPCR), and short tandem repeat (STR) - analysis. As a result, it was found that the sSMC is not a typical PKS derivative of chromosome 12. In contrast to the classical i(12)(p10) for PKS, the patient's cells contained an acrocentric chromosome consisting of 12p material. Clusters of telomeric repeats were found at the both ends of the sSMC. Furthemore, the results of aCGH and qPCR indicate the presence of interstitial 8.9 Mb duplication at 12p13.1-p12.1 within the sSMC, which leads to different representations of DNA from different segments of 12p within cells containing sSMC. The obtained data raise the question of the instability of the sSMC and, as a consequence, the possible presence of additional rearrangements, which, in traditional cytogenetic analysis of patients with PKS, are usually described as i(12)(p10).
Aim.Development of method for control by orbital spacecraft magnetic cleanliness based on multiple magnetic dipole models using compensation of the initial magnetic field with consideration of ...magnetic characteristics uncertainty.Methodology. Orbital spacecraft multiple magnetic dipole models calculated as solution of nonlinear minimax optimization problem based on near field measurements for prediction orbital spacecraft far magnetic field magnitude. Nonlinear objective function calculated as the weighted sum of squared residuals between the measured and predicted magnetic field. Weight matrix calculated as inverse covariance matrix of random errors vector. Values of magnetic moments and coordinates of placement of compensating magnetic dipoles for compensation of the orbital spacecraft initial magnetic field also calculated as solution of nonlinear minimax optimization problem. Both solutions of this nonlinear minimax optimization problems calculated based on particle swarm nonlinear optimization algorithms. Results.Results of prediction spacecraft far magnetic field magnitude based on orbital spacecraft multiple magnetic dipole models using near field measurements and compensation of the initial magnetic field with consideration of orbital spacecraft magnetic characteristics uncertainty for ensuring the orbital spacecraft magnetic cleanliness. Originality.The method for control by orbital spacecraft magnetic cleanliness based on multiple magnetic dipole models using compensation of the initial magnetic field with consideration of magnetic characteristics uncertainty is developed. Practical value.An important practical problem of ensuring orbital spacecraft magnetic cleanliness based on orbital spacecraft multiple magnetic dipole models using near field measurements and compensation of the initial magnetic field with consideration of orbital spacecraft magnetic characteristics uncertainty solved.
Aim. The article aims at studying the relationship between the mineral density of heel bone and bone remodeling in cyclistduring the annual training cycle. Materials and methods. The study involved ...14 highly skilled male cyclists (cycle track, MS, MSIC) aged 20–25 years with a sports experience of 5 to 16 years. The measurements were performed in the preparatory, pre-competitive and competitive periods of the annual training cycle. Bone mineral density (BMD) was measured by the method of quantitative ultrasound densitometry (QUS) using the Achilles Express ultrasonometer (Lunar, USA). BMD was estimated as a percentage of the peak norm for a given section of the skeleton (reference norms for 20–29 years). Results. The dynamics of BMD in the annual cycle correlates with a change in bone remodeling and phosphorus-calcium metabolism. A decrease in BMD during the competitive period is associated with an increase in β-Cross Laps and a decrease in osteocalcin, alkaline phosphatase, ionized calcium and serum phosphorus. Conclusion. A decrease in BMD is associated with an increase in the activity of osteoclasts and a decrease in osteoblastic activity. Indicators of bone remodeling and phosphorus-calcium metabolism reflect the status of bone tissue and the processes of general adaptation to training loads, and can be used as markers of risk of decreased BMD. The heel bone QUS method can be used to identify athletes at risk for hypotrophic conditions.
Miscarriage is an important problem in human reproduction, affecting 10-15 % of clinically recognized pregnancies. The cases of embryonic death can be divided into missed abortion (MA), for which the ...ultrasound sign of the embryo death is the absence of cardiac activity, and anembryonic pregnancy (AP) without an embryo in the gestational sac. The aim of this study was to compare the frequency of chromosomal abnormalities in extraembryonic tissues detected by conventional cytogenetic analysis of spontaneous abortions depending on the presence or absence of an embryo. This is a retrospective study of 1551 spontaneous abortions analyzed using GTG-banding from 1990 to 2022 (266 cases of AP and 1285 cases of MA). A comparative analysis of the frequency of chromosomal abnormalities and the distribution of karyotype frequencies depending on the presence of an embryo in the gestational sac was carried out. Statistical analysis was performed using a chi-square test with a p <0.05 significance level. The total frequency of chromosomal abnormalities in the study was 53.6 % (832/1551). The proportion of abnormal karyotypes in the AP and MA groups did not differ significantly and amounted to 57.1 % (152/266) and 52.9 % (680/1285) for AP and MA, respectively (p = 0.209). Sex chromosome aneuploidies and triploidies were significantly less common in the AP group than in the MA group (2.3 % (6/266) vs 6.8 % (88/1285), p = 0.005 and 4.9 % (13/266) vs 8.9 % (114/1285), p = 0.031, respectively). Tetraploidies were registered more frequently in AP compared to MA (12.4 % (33/266) vs. 8.2 % (106/1285), p = 0.031). The sex ratio among abortions with a normal karyotype was 0.54 and 0.74 for AP and MA, respectively. Thus, although the frequencies of some types of chromosomal pathology differ between AP and MA, the total frequency of chromosomal abnormalities in AP is not increased compared to MA, which indicates the need to search for the causes of AP at other levels of the genome organization, including microstructural chromosomal rearrangements, monogenic mutations, imprinting disorders, and epigenetic abnormalities.
Aim. Development of the method for designingelectromagnetic hybrid active-passive shield, consisting from active andmulty-circuitpassive parts,which is characterized by increased effectiveness of ...reducing the industrial frequency magnetic field created by two-circuit overhead power lines in residential buildings.Methodology. The designing problem ofelectromagnetic hybrid active-passive shield including robust system of active shielding and multy-circuit passive shield of initial magnetic fieldcomes down to a solutionof the multy-criteria two-player zero-sum antagonistic game. The game payoff vector calculated based on thefinite element calculations systemCOMSOL Muliphysics. The gamesolutioncalculated based on the particles multyswarm optimization algorithms.Results. During the design of theelectromagnetic hybrid active-passive shieldthe coordinates of the spatial arrangement of 11 circuits passiveshieldand the coordinates of the spatial location of one compensation winding, as well as the current and phase in this winding of the active shielding systemarecalculated.The results of theoretical and experimentalstudies ofhybrid active and multy-circuit passive shield by magnetic field inresidentialbuilding fromtwo-circuitpower transmission line with a«Barrel» typearrangement of wirespresented. Originality.For the first timethe method for designinghybrid active and multy-circuit passive shield, consisting from active andmulty-circuitpassive parts,which is characterized by increased effectiveness of reducing themagnetic field of industrial frequency created by two-circuit overhead power lines in residential buildingsis developed.Practical value.Based onresults of calculated study the shielding efficiency of the initial magnetic fieldwhat is confirmed by experimental studiesdetermined that shielding factorswhith onlymulty-circuit passive shield is more 1.2 units,whith onlyactiveshield is more 4 units andwithelectromagnetic hybrid active-passive shield is more 6.2 units.Itis shown the possibility to reduce the level of magnetic field inductioninresidentialbuilding fromtwo-circuitpower transmission line with a«Barrel» typearrangement of wires by means ofelectromagnetic hybrid active shielding with single compensating winding and multy-circuit passive shielding with11 circuit passiveshield to 0.5μTlevel safe for the population. References 51, figures 17.
Aim.Development of method for prediction and control the microsatellite magnetic cleanliness taking into account the uncertainties of the magnetic characteristics of the microsatellite, based on ...calculation the magnetic field spatial spherical harmonics in the area of the onboard magnetometer installation and using compensating multipoles. Methodology.Spatial spherical harmonics of microsatellite magnetic field in the area of the onboard magnetometer installation calculated as solution of nonlinear minimax optimization problem based on near field measurements for prediction far spacecraft magnetic field magnitude. Nonlinear objective function calculated as the weighted sum of squared residuals between the measured and predicted magnetic field. Values of the compensating dipoles, quadrupoles and octupoles and coordinates of them placement inside the spaceship for compensation of the dipoles, quadrupoles and octupoles components of the microsatellite initial magnetic field also calculated as solution of nonlinear minimax optimization problem. Both solutions of this nonlinear minimax optimization problems calculated based on particle swarm nonlinear optimization algorithms. Results.Results of prediction spacecraft far magnetic field magnitude based on spacecraft spatial spherical harmonics of the magnetic field using near field measurements and compensation of the dipoles, quadrupoles and octupoles components of the initial magnetic field with consideration of spacecraft magnetic characteristics uncertainty for ensuring the microsatellite magnetic cleanliness. Originality.The method for prediction and control by spacecraft magnetic cleanliness based on calculation spatial spherical harmonics of the magnetic field in the area of the onboard magnetometer installation using compensation of the dipoles, quadrupoles and octupoles components of the initial magnetic field with consideration of magnetic characteristics uncertainty is developed. Practical value.The important practical problem of ensuring the magnetic cleanliness of the «Sich-2» microsatellite family based on the spatial spherical harmonics of the magnetic field model using the compensation of the dipole, quadrupole and octupole components of the output magnetic field of the sensor for the kinetic parameters of the neutral component of the space plasma at the point of installation of the on-board magnetometer LEMI-016 by setting the compensating dipole, quadrupole and octupole with consideration of spacecraft magnetic characteristics uncertainty solved.
Aim. The issues of comparing the effectiveness of reducing the level of the magnetic field in a five-storey old buildings generated by a single-circuit overhead power transmission lines with a ...triangular suspension of wires using a thriple-loop and double-loop systems of active screening, which respectively contain three or two compensating windings are considered. Methodology. Spatial location coordinates of the compensating windings and the currents in the shielding windings were determined during the design of systems of active screening based on solution of the maximin vector optimization problem, in whith the vector of objective function is calculated based on Biot-Savart's law. The solution of this problem is calculated based on algorithms of multi-swarm multi-agent optimization. Results. The results of theoretical and experimental comparing the effectiveness of reducing the level of the magnetic field in a five-storey old generated by a single-circuit overhead power transmission lines with a triangular suspension of wires using a thriple-loop and double-loop systems of active screening, which respectively contain three or two compensating windings are presented. Originality. For the first time, the comparison the effectiveness of reducing the level of the magnetic field in a five-storey old using a thriple-loop and double-loop systems of active screening are considered. Practical value. From the point of view of the practical implementation it is shown the possibility to reduce the level of magnetic field induction in a five-storey old buildings to the sanitary standards of Ukraine for real overhead power transmission lines currents with the help of a synthesized double-loop systems of active screening. A double-loop active screening system is simpler in comparison with a thriple-loop active screening system when implementing.
Aim. The theoretical and experimental studies of the effectiveness of reducing the level of the magnetic field in two-storey cottage of the old building of a power transmission line with a horizontal ...arrangement of wires by means of active shielding with single compensation winding. Methodology Spatial location coordinates of the compensating winding and the current in the shielding winding were determined during the design of systems of active screening based on solution of the vector game, in whith the vector payoffs is calculated based on Biot-Savart's law. The solution of this vector game calculated based on algorithms of multi-swarm multi-agent optimization. Results The results of theoretical and experimental studies of the effectiveness of reducing the level of the magnetic field in two-storey cottage of the old building of a power transmission line with a horizontal arrangement of wires by means of active shielding with single compensation winding are presented. Originality.For the first time, the theoretical and experimental studies of the effectiveness of reducing the level of the magnetic field in two-storey cottage of the old building of a power transmission line with a horizontal arrangement of wires by means of active shielding with single compensation winding are considered. Practical value. From the point of view of the practical implementation it is shown the possibility to reduce the level of magnetic field in two-storey cottage of the old building from power transmission line with a horizontal arrangement of wires by means of active shielding with single compensation winding to the sanitary standards of Ukraine.
In humans, aneuploidy is incompatible with the birth of healthy children and mainly leads to the death of embryos in the early stages of development in the first trimester of pregnancy. Trisomy 16 is ...the most common aneuploidy among spontaneous abortions of the first trimester of pregnancy. However, the mechanisms leading to the death of embryos with trisomy 16 remain insufficiently investigated. One of these potential mechanisms is abnormal placental development, including aberrant remodeling of spiral arteries. Spiral artery remodeling involves the migration of trophoblast cells into the maternal spiral arteries, replacing their endothelium and remodeling to ensure a stable embryonic nutrition and oxygen supply. This is a complex process which depends on many factors from both the embryo and the mother. We analyzed the methylation level of seven genes (ADORA2B, NPR3, PRDM1, PSG2, PHTLH, SV2C, and TICAM2) involved in placental development in the chorionic villi of spontaneous abortions with trisomy 16 (n = 14), compared with spontaneous abortions with a normal karyotype (n = 31) and the control group of induced abortions (n = 10). To obtain sequencing libraries, targeted amplification of individual gene regions using designed oligonucleotide primers for bisulfite-converted DNA was used. The analysis was carried out using targeted bisulfite massive parallel sequencing. In the group of spontaneous abortions with trisomy 16, the level of methylation of the PRDM1 and PSG2 genes was significantly increased compared to induced abortions (p = 0.0004 and p = 0.0015, respectively). In the group of spontaneous abortions, there was no increase in the level of methylation of the PRDM1 and PSG2 genes, but the level of methylation of the ADORA2B gene was significantly increased compared to the induced abortions (p = 0.032). The results obtained indicate the potential mechanisms of the pathogenetic effect of trisomy 16 on the placental development with the participation of the studied genes.
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