Hengzongshu/ArticleAgent huggingface dataset:
Hereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the prevalence of different HL forms significantly varies among populations worldwide. Investigation of region-specific landscapes of hereditary HL is important for local healthcare and medical genetic services. Mutations in the SLC26A4 gene leading to nonsyndromic recessive deafness (DFNB4) and Pendred syndrome are common genetic causes of hereditary HL, at least in some Asian populations. We present for the first time the results of a thorough analysis of the SLC26A4 gene by Sanger sequencing in the large cohorts of patients with HL of unknown etiology belonging to two neighboring indigenous Turkic-speaking Siberian peoples (Tuvinians and Altaians). A definite genetic diagnosis based on the presence of biallelic SLC26A4 mutations was established for 28.2% (62/220) of all enrolled Tuvinian patients vs. 4.3% (4/93) of Altaian patients. The rate of the SLC26A4-related HL in Tuvinian patients appeared to be one of the highest among populations worldwide. The SLC26A4 mutational spectrum was characterized by the presence of Asian-specific mutations c.919-2A>G and c.2027T>A (p.Leu676Gln), predominantly found in Tuvinian patients, and c.2168A>G (p.His723Arg), which was only detected in Altaian patients. In addition, a novel pathogenic variant c.1545T>G (p.Phe515Leu) was found with high frequency in Tuvinian patients. Overall, based on the findings of this study and our previous research, we were able to uncover the genetic causes of HL in 50.5% of Tuvinian patients and 34.5% of Altaian patients.
Chromosomes are hierarchically folded within cell nuclei into territories, domains and subdomains, but the functional importance and evolutionary dynamics of these hierarchies are poorly defined. Here, we comprehensively profile genome organizations of five Anopheles mosquito species and show how different levels of chromatin architecture influence each other. Patterns observed on Hi-C maps are associated with known cytological structures, epigenetic profiles, and gene expression levels. Evolutionary analysis reveals conservation of chromatin architecture within synteny blocks for tens of millions of years and enrichment of synteny breakpoints in regions with increased genomic insulation. However, in-depth analysis shows a confounding effect of gene density on both insulation and distribution of synteny breakpoints, suggesting limited causal relationship between breakpoints and regions with increased genomic insulation. At the level of individual loci, we identify specific, extremely long-ranged looping interactions, conserved for ~100 million years. We demonstrate that the mechanisms underlying these looping contacts differ from previously described Polycomb-dependent interactions and clustering of active chromatin.
We investigate the mathematical model of the 2D acoustic waves propagation in a heterogeneous domain. The hyperbolic first order system of partial differential equations is considered and solved by the Godunov method of the first order of approximation. This is a direct problem with appropriate initial and boundary conditions. We solve the coefficient inverse problem (IP) of recovering density. IP is reduced to an optimization problem, which is solved by the gradient descent method. The quality of the IP solution highly depends on the quantity of IP data and positions of receivers. We introduce a new approach for computing a gradient in the descent method in order to use as much IP data as possible on each iteration of descent.
The burden of malaria infection in the modern world remains significant. Specific changes in the relative proportions of malaria vector mosquitoes, Maculipennis Complex species, in the south of Western Siberia over the past 25 years of the 20th century have attracted wide attention as an indicator of their dynamic geographical distribution. In Eurasia, studies of fluctuations in the borders of areas occupied by sibling species of this complex, as well as their relative proportions in the areas where they are sympatric are epidemiologically important. Species identity and chromosomal polymorphisms within each population were defined by cytogenetic analysis of polytene chromosomes of third- and fourth-instar larvae and adult females of Anopheles mosquitoes collected over the period from 1973 to 2012. A total of 37 Anopheles samples (3,757 specimens) from the Ukraine, European Russia and the Urals were studied. To identify An. messeae s.l. cryptic species A and B, polymerase chain reaction and restriction fragment length polymorphisms of the second internal transcribed spacer rRNA genes sequences (ITS2 PCR-RFLP) were used. An. maculipennis s.s. is expanding to the northeast at a speed of approximately 30 km per year. In 2008 or 2009, this species appeared in the Southern Urals. The emergence of An. maculipennis in this region was accompanied by a decrease in the proportions of An. messeae A and An. beklemishevi and by an increase in the proportion of An. messeae B within An. messeae s.l. It is highly likely that the southwestern border of An. beklemishevi distribution area could shift in the same direction as expanding area of An. maculipennis. The geographical distribution of the Palaearctic mosquito species of the Maculipennis Complex is undergoing a gradual shift. Changes detected in the species distribution can be considered as a component of the biocenotic process triggered by global warming. Both the warming itself and consequent expansion of An. maculipennis s.s. to the northeast, followed by changes in the species composition of Anopheles as well as their relative proportions and fluctuations in the species areas, exacerbate the epidemiology of malaria infection in Eurasia.
Octahedral molybdenum and tungsten clusters have potential biological applications in photodynamic therapy and bioimaging. However, poor solubility and hydrolysis stability of these compounds hinder their application. The first water‐soluble photoluminescent octahedral tungsten cluster [{W 6 I 8 }(DMSO) 6 ](NO 3 ) 4 was synthesised and demonstrated to be at least one order of magnitude more stable towards hydrolysis than its molybdenum analogue. Biological studies of the compound on larynx carcinoma cells suggest that it has a significant photoinduced toxicity, while the dark toxicity increases with the increase of the degree of hydrolysis. The increase of the dark toxicity is associated with the in situ generation of nanoparticles that clog up the cisternae of rough endoplasmic reticulum.
We consider a single-server GI/GI/1 queueing system with feedback. We assume the service times distribution to be (intermediate) regularly varying. We find the tail asymptotics for a customer's sojourn time in two regimes: the customer arrives in an empty system, and the customer arrives in the system in the stationary regime. In particular, in the case of Poisson input we use the branching processes structure and provide more precise formulae. As auxiliary results, we find the tail asymptotics for the busy period distribution in a single-server queue with an intermediate varying service times distribution and establish the principle-of-a-single-big-jump equivalences that characterise the asymptotics.
The decay B(c)(+) → J/ψπ(+) π(-) π(+) is observed for the first time

using 0.8 fb(-1) of pp collisions at sqrt[s] = 7 TeV collected by the LHCb experiment. The ratio of branching fractions B(B(c)(+) → J/ψπ(+) π(-) π(+))/B(B(c)(+)→J/ψπ^{+}) is measured to be 2.41 ± 0.30 ± 0.33, where the first uncertainty is statistical and the second is systematic

The result is in agreement with theoretical predictions
We describe a new intermediate complexity model (PlaSim-ESM-ICMMG-v.1.0) constructed by coupling the Planet Simulator [1-2] with ocean and sea-ice models. We demonstrate the results of climate simulation using PlaSim-ICMMG-v.1.0 considering global fields of surface air temperature, precipitation, sea surface temperature, and ocean circulation, and make comparisons with the results obtained using the original PlaSim version. PlaSim-ICMMG-v.1.0 reproduces the main features of the climate system reasonably well and demonstrates that it is useful for climate system modeling. Due to the rapid warming in the Arctic, there are major challenges associated with the mechanisms that regulate the dynamics of weather in the mid-latitudes. The new earth's system model of intermediate complexity PlaSim-ICMMG-v.1.0 can be used to deal with these challenges.
Aim . To study the content of matrix metalloproteinase (MMP)-2, -3, -9 and tissue inhibitors of metalloproteinases (TIMPs) -1, -2, -3, -4 in the aqueous humor of patients with moderate primary open-angle glaucoma (POAG). Materials and methods . The experimental group included 47 patients with verified moderate primary open-angle glaucoma. The control group consisted of 26 patients with uncomplicated cataract. The levels of MMP-2, -3, -9 were determined with Luminex Performance Human MMP Magnetic Panel 3-plex kit (R&D Systems, USA), the concentration of TIMPs-1, -2, -3, - 4 was determined with the Human TIMP Magnetic Luminex Performance Assay 4-plex kit (R&D Systems, USA). The study was carried out using flow-through field fluorometry on a Bio-Plex 200 double-beam laser analyzer (Bio-Rad, USA). Results . The study showed a statistically significant increase in the levels of matrix metalloproteinase-2 and tissue inhibitors of matrix metalloproteinases-1, -2, -3, -4 in the aqueous humor of patients with moderate POAG compared with patients with uncomplicated cataract. Conclusion . The obtained data on high concentrations and imbalance in the levels of matrix metalloproteinases and their tissue inhibitors in the aqueous humor of patients with moderate POAG confirm the role of local inflammation, as well as impairments in the structure of the extracellular matrix and its remodeling in the mechanisms of development of this pathology.
The relevance of studies of adult neurogenesis is evident in connection with the potential use of these new neurons to replace neurons lost in the process of life. Despite considerable eﬀorts, little is known about the fnal fate of these cells, the functional signifcance of their connections and the regulation of their development. It is known that physical activity signifcantly increases the number of fssile progenitors, the precursors of new neurons in the dentate gyrus of the hippocampus. The existing immunohistochemical methods for labeling new neurons do not allow tracing the temporal dynamics of changes in the volume of brain structures in the same animal, induced by external impacts, such as voluntary exercise.

This makes it an urgent task to develop and improve methods for long­term control of changes that occur in the adult hippocampus due to the induction of neurogenesis. The main purpose of this work was to non­invasively track, by using magnetic resonance imaging (MRI), the temporal dynamics of changes in the volume of the hippocampus in the same animals that had voluntary physical activity.

It was found that voluntary exercise did not change the total volume of the mouse hippocampus. However, the diﬀerence in the volume ratio between the right and left parts of the hippocampus was signifcantly lower compared with the control group. The reconstruction and analysis of protein­protein interactions that ensure the survival of a large number of new neurons and their integration into existing neural networks in the hippocampus have been carried out. The proposed approach allows the non­invasive registration of changes in the ratio of the volumes of these paired brain structures.
Expectations of unbounded functions of dependent nonnegative integer-valued random variables

approximated by the expectations of the functions of independent copies of these random variables. The Lindeberg method is used

Expectations are approximated using independent copies through the Lindeberg method
A search for pair production of the supersymmetric partners of the Higgs boson (higgsinos $\stackrel{\texttildelow{}}{H}$) in gauge-mediated scenarios is reported. Each higgsino is assumed to decay to a Higgs boson and a gravitino. Two complementary analyses, targeting high- and low-mass signals, are performed to maximize sensitivity. The two analyses utilize LHC $pp$ collision data at a center-of-mass energy $\sqrt{s}=13\text{ }\text{ }\mathrm{TeV}$, the former with an integrated luminosity of $36.1\text{ }\text{ }{\mathrm{fb}}^{\ensuremath{-}1}$ and the latter with $24.3\text{ }\text{ }{\mathrm{fb}}^{\ensuremath{-}1}$, collected with the ATLAS detector in 2015 and 2016. The search is performed in events containing missing transverse momentum and several energetic jets, at least three of which must be identified as $b$-quark jets. No significant excess is found above the predicted background. Limits on the cross section are set as a function of the mass of the $\stackrel{\texttildelow{}}{H}$ in simplified models assuming production via mass-degenerate higgsinos decaying to a Higgs boson and a gravitino. Higgsinos with masses between 130 and 230 GeV and between 290 and 880 GeV are excluded at the 95% confidence level. Interpretations of the limits in terms of the branching ratio of the higgsino to a $Z$ boson or a Higgs boson are also presented, and a 45% branching ratio to a Higgs boson is excluded for ${m}_{\stackrel{\texttildelow{}}{H}}\ensuremath{\approx}400\text{ }\text{ }\mathrm{GeV}$.
At initiation an external source must initiate a chemical reaction in the combustible mixture and ensure its self-sustaining propagation over the whole volume of the mixture. Traditionally, the critical energy is considered as the measured value of successful initiation of a mixture, providing 100% excitation of the process – combustion or detonation. Actually, the initiation of combustion or detonation process has a “threshold” nature (“yes” – “no”). The spatial-temporal law of initiator energy allocation has a noticeable effect on the critical initiation energy.

The instability of the system of equations of gas dynamics and chemical kinetics is manifested in the multifront nature of the detonation front and the cellular structure of the trajectories of the transverse waves. The important question is the moment and place of occurrence of such a structure, especially for expanding waves. Along with the kinetic-gasdynamic instability of the combustible mixture, a certain role is played by the instabilities introduced by the initiator: for example, the constrictive (sausage) electromagnetic instability of an electric conductor with a current, the Meshkov-Richtmeier instability at the expanding boundary of the liquid metal of the exploding wire, etc.

In this report the existing problems of initiation and propagation of detonation are discussed based on modern data, including the results of the author’s research on these issues.
Mitotic index is an important component of histologic grade and has an etiologic role in breast tumorigenesis. Several small candidate gene studies have reported associations between variation in mitotic genes and breast cancer risk.

We measured associations between 2156 single nucleotide polymorphisms (SNPs) from 194 mitotic genes and breast cancer risk, overall and by histologic grade, in the Breast Cancer Association Consortium (BCAC) iCOGS study (n = 39 067 cases; n = 42 106 controls).

SNPs in TACC2 [rs17550038: odds ratio (OR) = 1.24, 95% confidence interval (CI) 1.16-1.33, P = 4.2 × 10(-10)) and EIF3H (rs799890: OR = 1.07, 95% CI 1.04-1.11, P = 8.7 × 10(-6)) were significantly associated with risk of low-grade breast cancer. The TACC2 signal was retained (rs17550038: OR = 1.15, 95% CI 1.07-1.23, P = 7.9 × 10(-5)) after adjustment for breast cancer risk SNPs in the nearby FGFR2 gene, suggesting that TACC2 is a novel, independent genome-wide significant genetic risk locus for low-grade breast cancer. While no SNPs were individually associated with high-grade disease, a pathway-level gene set analysis showed that variation across the 194 mitotic genes was associated with high-grade breast cancer risk (P = 2.1 × 10(-3)). These observations will provide insight into the contribution of mitotic defects to histological grade and the etiology of breast cancer.
Reptiles show a remarkable diversity of sex determination mechanisms and sex chromosome systems, derived from different autosomal pairs. The origin of the ZW sex chromosomes of Lacerta agilis , a widespread Eurasian lizard species, is a matter of discussion: is it a small macrochromosome from the 11-18 group, common to all lacertids, or this species has unique ZW pair derived from the large chromosome 5.

Using independent molecular cytogenetic methods, we investigated the karyotype of L. agilis exigua from Siberia, Russia, to identify the sex chromosomes. FISH with the flow-sorted chromosome painting probe, derived from L. strigata and specific to chromosomes 13, 14, and Z, confirmed that the Z chromosome of L. agilis is a small macrochromosome, the same as in L. strigata . FISH with the telomeric probe showed an extensive accumulation of the telomeric repeat on the W chromosome in agreement with previous studies, excluding the possibility that the lineages of L. agilis studied in different works could have different sex chromosome systems due to a putative intra-species polymorphism.

Our results reinforce the idea of the stability of the sex chromosomes and lack of evidence for sex-chromosome turnovers in known species of Lacertidae.
The system is described for the preliminary plasma creation in the GOL-PET facility. Currently, after this system was considerably reconstructed, it is based on a high-voltage discharge system with pulsed gas injection.

The new system was studied on the subject of whether, with its help, it is possible to create preliminary plasma with different longitudinal and transverse density distributions.

The results obtained are presented which seem to be encouraging.
The reduction in bone and muscle mass increases in menopausal women and poses a threat to the loss of self-dependence in the elderly. The aim of the study was to assess the frequency of osteoporotic forearm fractures (OFF) in postmenopausal women and to study their association with risk factors for chronic non-communicable diseases (NCD). The study was based on the Russian arm of the Health, Alcohol and Psychosocial Factors In Eastern Europe (HAPIEE) project (Novosibirsk). In a subsample of postmenopausal women aged 55-84 years old (n = 2005), we assessed the history of OFF during the last 3 years and risk factors for fracture and common NCD/. Cross-sectional associations between OFF history and potential determinants were analyzed using multivariable-adjusted logistic regression. A history of OFF in the last 3 years was found in 3.9% women. In a multivariable-adjusted model, the risk of OFF was directly associated with smoking in the past (OR = 2.23; 95% Cl 1.10-4.55), total cholesterol level higher than 200 mg/dL (OR = 1.98; 95% Cl 1.19-3.29), and it was inversely associated with body mass index (OR = 0.91; 95% Cl 0.86-0.96). In studied population sample of postmenopausal women the cross-sectional determinants of osteoporotic forearm fractures were smoking in the past and high total cholesterol value; body mass index protectively related to the risk of osteoporotic fractures. These findings might have implications for fracture prevention in postmenopausal women.
Formation of coherent structures and patterns from unstable uniform state or noise is a fundamental physical phenomenon that occurs in various areas of science ranging from biology to astrophysics. Understanding of the underlying mechanisms of such processes can both improve our general interdisciplinary knowledge about complex nonlinear systems and lead to new practical engineering techniques. Modern optics with its high precision measurements offers excellent test-beds for studying complex nonlinear dynamics, though capturing transient rapid formation of optical solitons is technically challenging. Here we unveil the build-up of dissipative soliton in mode-locked fibre lasers using dispersive Fourier transform to measure spectral dynamics and employing autocorrelation analysis to investigate temporal evolution. Numerical simulations corroborate experimental observations, and indicate an underlying universality in the pulse formation. Statistical analysis identifies correlations and dependencies during the build-up phase. Our study may open up possibilities for real-time observation of various nonlinear structures in photonic systems.
The research aim is to study the associations of changes in the content of hemoglobin complexes by the Raman spectroscopy with electrical and viscoelastic parameters of erythrocytes (using the dielectrophoresis method) among patients with arterial hypertension (AH) (including resistant AH), to evaluate the possibility of using these parameters for diagnostic purposes. Fifty males (54 ± 6 years) with stage 2 of AH have been examined, 24 of them have showed resistant AH. We have determined a significant decrease in the level of hemoglobin-ligand complexes, Hb-NO (II) complexes in patients with resistant AH compared to those among patients with controlled AH and among healthy patients (p < 0.001 – 0.05). We have found correlations between intensities of the most important signals of hemoglobin Raman spectra (1325, 1350, 1550, 1580, 1660, 1668 cm –1 ) and electric and viscoelastic parameters of erythrocytes (amplitude of erythrocytes deformation, summarized indicators of viscosity and rigidity, the magnitude of the dipole moment, polarizability at the frequency 106 Hz, electrical conductivity, index of destruction), the intensity of which had been the biggest one for resistant AH. It has been shown that the combined use of two methods (Raman spectroscopy of hemoglobin and electrical and the studies of erythrocytes by the dielectrophoresis method) allowed to increase the diagnostic accuracy to detect the resistant arterial hypertension up to 88%, sensitivity up to 84.6%, specificity up to 91.7% compared to the data of the combined clinical and instrumental methods of research. The capability of this combination approach exceeds the capabilities of the methods separately.
Existence, uniqueness and stability of kinetic and entropy solutions to the boundary value problem associated with the Kolmogorov-type, genuinely nonlinear, degenerate hyperbolic–parabolic (ultra-parabolic) equation with a smooth source term is established. In addition, we consider the case when the source term contains a small positive parameter and collapses to the Dirac delta-function, as this parameter tends to zero. In this case, the limiting passage from the original equation with the smooth source to the impulsive ultra-parabolic equation is investigated and the formal limit is rigorously justified. Our proofs rely on the use of kinetic equations and the compensated compactness method for genuinely nonlinear balance laws.
In this paper a new approach for the prediction of protein coding gene structures is described. The principal scheme of prediction is as follows: first, the exons with the best potential are predicted in a sequence with unknown functions and a list of potential amino acid fragments coded by these exons is formed. Second, testing the homology between each amino acid fragment from the list and proteins from the SWISS-PROT database of amino acid sequences. One protein with the best homology is chosen out of all the homologous sequences. Third, reconstruction of the exonintron structure, basing it on its homology with the chosen protein sequences. The method was tested on an independent control set (20 genes). The results were as follows: 21% of real exons were lost and 3% of non-real exons were found. This system can be used to refine the results of gene prediction systems, especially if highly homologous proteins are found in the amino acid sequence database.