mariya

Accurate identification of germline de novo variants (DNVs) remains a challenging problem despite rapid advances in sequencing technologies as well as methods for the analysis of the data they generate, with putative solutions often involving ad hoc filters and visual inspection of identified variants. Here, we present a purely informatic method for the identification of DNVs by analyzing short-read genome sequencing data from proband-parent trios. Our method evaluates variant calls generated by three genome sequence analysis pipelines utilizing different algorithms-GATK HaplotypeCaller, DeepTrio and Velsera GRAF-exploring the assumption that a requirement of consensus can serve as an effective filter for high- quality DNVs...

Background Female sex has been recognized as a risk factor for cardiac surgery associated acute kidney injury (CS-AKI). The current study sought to evaluate whether female sex is a risk factor for CS-AKI, or modifies the association of peri-operative change in serum creatinine with CS-AKI. Methods Observational study of adult patients undergoing cardiac surgery between 2000 and 2019 in a single U.S. center. The main variable of interest was registered patient sex, identified from electronic medical records...

Smartwatches have proven life-saving in medical specialties such as cardiology. Smartwatches actively warn us of arrhythmia risk and loud noise exposure. However, dermatologic health metrics are rarely monitored, and users are never alerted of potential skin health issues. Furthermore, the role of these devices within dermatology has not been evaluated in the literature. This study aims to analyze the current data points monitored by smartwatches and discuss potential adaptations to support dermatologic patient education and improve clinical management...

BACKGROUND: Charles Bonnet syndrome (CBS) is characterized by visual hallucinations occurring in people with visual impairment. CBS can negatively impact psychological well-being, and the COVID-19 pandemic period was associated with an exacerbation of symptoms. OBJECTIVES: To compare clinical practice patterns and reporting of CBS at a tertiary eye care center between an interval prior to the COVID-19 pandemic and an interval during the pandemic. DESIGN: Retrospective chart review...

The human adenovirus (HAdV) is a common pathogen in children that can cause acute respiratory virus infection (ARVI). However, the molecular epidemiological and clinical information relating to HAdV among hospitalized children with ARVI is rarely reported in Russia. A 4-year longitudinal (2019-2022) study among hospitalized children (0-17 years old) with ARVI in Novosibirsk, Russia, was conducted to evaluate the epidemiological and molecular characteristics of HAdV. Statistically significant differences in the detection rates of epidemiological and virological data of all positive viral detections of HAdV were analyzed using a two-tailed Chi-square test...

In adult fish, neurogenesis occurs in many areas of the brain, including the cerebellum, with the ratio of newly formed cells relative to the total number of brain cells being several orders of magnitude greater than in mammals. Our study aimed to compare the expressions of aromatase B (AroB), glutamine synthetase (GS), and cystathionine-beta-synthase (CBS) in the cerebellum of intact juvenile chum salmon, Oncorhynchus keta . To identify the dynamics that determine the involvement of AroB, GS, and CBS in the cellular mechanisms of regeneration, we performed a comprehensive assessment of the expressions of these molecular markers during a long-term primary traumatic brain injury (TBI) and after a repeated acute TBI to the cerebellum of O...

The gut microbiota plays an important role in maintaining human health, as well as in the development of various pathologies, as indicated by a large amount of research. One of the manifestations of an imbalance in the gut microbiome composition is the appearance of various diseases or immune reactions, in particular, atopic dermatitis (AD) and/or food allergies (FA). In this research, using 16S NGS sequencing, it was found that the gut microbiome of children with food allergies and children with atopic dermatitis can be characterized as having higher inflammatory potential...

Fibrous cellulose acetate (CA) materials loaded with rosmarinic acid (RA) were successfully created by one-pot electrospinning. In order to improve the water solubility of the polyphenolic acid and to facilitate its release from the fibrous materials, the non-ionic water-soluble polyethylene glycol (PEG) was added. Detailed characterization of the fabricated fibrous CA/RA and CA/PEG/RA materials was performed using scanning electron microscopy (SEM), X-ray diffraction analysis (XRD), UV-Vis spectroscopy and water contact angle analysis...

We report the complete genome sequence of the Chlamydia psittaci АМК-16, recovered from the aborted caprine fetus during a case of chlamydia infection. This 1,152,497-bp genome with 7,552-bp cryptic plasmid provides novel insights into the genetic diversity of chlamydia agent strains particularly those causing the infection in small ruminants.

The morphology of zeolite crystals strongly affects their textural, catalytic, and mechanical attributes. However, controlling zeolite crystal morphology without using modifiers or structure-directing agents remains a challenging task because of our limited understanding of the relationships between zeolite crystal shape, crystallization mechanism, and composition of the starting synthesis mixture. In this study, we aimed at developing a general method for controlling the morphology of zeolites by assessing the impact of the Si/T molar ratio of the synthesis gel on the growth rate of zeolite crystals in various crystallographic directions and on the final crystal morphology of the UTL germanosilicate with a 2D system of intersecting 14- and 12-ring pores...

The structural rigidity and chemical diversity of the highly fluorescent perylenediimide (PDI) provide wide opportunities for developing triplet photosensitizers with sufficiently increased energy efficiency. Remarkably high intersystem crossing (ISC) rates with a complete fluorescence turn-off reported recently for several thione analogs of PDI due to substantially large spin-orbit coupling garners huge attention to develop other potential analogs. Here, several selone analogs of PDI, denoted as mSe-PDIs (m = 1-4) with varied Se content and positions, are investigated to provide a comprehensive and comparative picture down the group-16 using density functional theory (DFT) and time-dependent DFT implementing optimally tuned range-separated hybrid in toluene dielectric...

BACKGROUND: Normocalcemic primary hyperparathyroidism (nPHPT) is a condition characterized by persistently high levels of parathyroid hormone (PTH) and normal serum calcium levels in the absence of other causes for secondary hyperparathyroidism. The aim of the present study was to assess the clinical presentation and the biochemical characteristics in patients with nPHPT and to compare them with those in patients with hypercalcemic PHPT (hPHPT). MATERIALS AND METHODS: The study included 316 patients (277 women and 39 men, average age 58...

Globally, rice is becoming more vulnerable to arsenic (As) pollution, posing a serious threat to public food safety. Previously Debaryomyces hansenii was found to reduce grain As content of rice. To better understand the underlying mechanism, we performed a genome analysis to identify the key genes in D. hansenii responsible for As tolerance and plant growth promotion. Notably, genes related to As resistance (ARR, Ycf1, and Yap) were observed in the genome of D. hansenii. The presence of auxin pathway and glutathione metabolism-related genes may explain the plant growth-promoting potential and As tolerance mechanism of this novel yeast strain...

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The pull-out method was used to study the adhesive strength τ of "fiber-thermoset" systems with wide variations in area. Studied binders were based on resins that had different chemical natures (epoxy, epoxy phenol, orthophthalic, polyphenylsiloxane, and phenol-formaldehyde). Shear adhesive strength was determined for systems with two fiber types (glass and steel fibers). It was shown that strength τ depended on scale (area). Formation of τ occurred during the curing process and the system's subsequent cooling to the measurement temperature T...

At the intestinal front, several lines of defense are in place to resist infection and injury, the mucus layer, gut microbiome and strong epithelial junctions, to name a few. Their collaboration creates a resilient barrier. In intestinal disorders, such as inflammatory bowel disease (IBD), barrier function is compromised, which results in rampant inflammation and tissue injury. In response to the destruction, the intestinal epithelium releases adenosine, a small but powerful nucleoside that functions as an alarm signal...

The key technological implementation of sodium-ion batteries is converting biomass-derived hard carbons into effective anode materials. This becomes feasible if appropriate knowledge of the relations between the structure of carbonized biomass products, the mineral ash content in them, and Na storage properties is gained. In this study, we examine the simultaneous impact of the ash phase composition and carbon structure on the Na storage properties of hard carbons derived from spent coffee grounds (SCGs). The carbon structure is modified using the pre-carbonization of SCGs at 750 °C, followed by annealing at 1100 °C in an Ar atmosphere...

Methanol-to-hydrocarbons (MTH) process has been considered one of the most practical approaches for producing value-added products from methanol. However, the commonly used zeolite catalysts suffer from rapid deactivation due to coke deposition and require regular regeneration treatments. We demonstrate that low-melting-point metals, such as Ga, can effectively promote more stable methanol conversion in the MTH process by slowing coke deposition and facilitating the desorption of carbonaceous species from the zeolite...

OBJECTIVES: This study aimed to evaluate the level of adherence to medication among patients with ischaemic heart disease (IHD) in Oman and assess the related factors. METHODS: This cross-sectional questionnaire-based study among patients with IHD attending the outpatient clinic at Sultan Qaboos University Hospital, Muscat, Oman, was performed between January and December 2021. RESULTS: A total of 105 patients (mean age = 49.9 ± 11.1 years, 78...

The worldwide application of digital technology has presented dentistry with transformative opportunities. The concept of digital dentures, incorporating computer-aided design (CAD) and computer-aided manufacturing (CAM) techniques, holds the promise of improved precision, customization, and overall patient satisfaction. However, the shift from traditional dentures to their digital counterparts should not be taken lightly, as the intricate interplay between oral physiology, patient comfort, and long-term durability requires thorough examination...