WES-based screening of 7,000 newborns: A pilot study in Russia.

The effective implementation of whole-exome sequencing- and whole-genome sequencing-based diagnostics in the management of children affected with genetic diseases and the rapid decrease in the cost of next-generation sequencing (NGS) enables the expansion of this method to newborn genetic screening programs. Such NGS-based screening greatly increases the number of diseases that can be detected compared to conventional newborn screening, as the latter is aimed at early detection of a limited number of inborn diseases. Moreover, genetic testing provides new possibilities for family members of the proband, as many variants responsible for adult-onset conditions are inherited from the parents.

Effect of particle density on microplastics transport in artificial and natural porous media.

The occurrence and persistence of microplastics (MPs) in natural environments are of increasing concern. Along with this, the transport of MPs in sediments has been investigated mainly focusing on the effect of plastic size and shape, media size effect, and solution chemistry. Yet, the influence of particle density is only partially understood.

Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies.

Background: Whole exome sequencing allows rapid identification of causative single nucleotide variants and short insertions/deletions in children with congenital anomalies and/or intellectual disability, which aids in accurate diagnosis, prognosis, appropriate therapeutic interventions, and family counselling. Recently, de novo variants in the MED13 gene were described in patients with an intellectual developmental disorder that included global developmental delay, mild congenital heart anomalies, and hearing and vision problems in some patients.

Results: Here we describe an infant who carried a de novo p.

Comprehensive peripheral blood immunoprofiling reveals five immunotypes with immunotherapy response characteristics in patients with cancer.

The lack of comprehensive diagnostics and consensus analytical models for evaluating the status of a patient's immune system has hindered a wider adoption of immunoprofiling for treatment monitoring and response prediction in cancer patients. To address this unmet need, we developed an immunoprofiling platform that uses multiparameter flow cytometry to characterize immune cell heterogeneity in the peripheral blood of healthy donors and patients with advanced cancers. Using unsupervised clustering, we identified five immunotypes with unique distributions of different cell types and gene expression profiles.

European common frogs determine migratory direction by inclination magnetic compass and show diurnal variation in orientation.

Animals can use two variants of the magnetic compass: the 'polar compass' or the 'inclination compass'. Among vertebrates, the compass type has been identified for salmon, mole rats, birds, turtles and urodeles. However, no experiments have been conducted to determine the compass variant in anurans.

Formation Kinetics and Antimicrobial Activity of Silver Nanoparticle Dispersions Based on N-Reacetylated Oligochitosan Solutions for Biomedical Applications.

The paper presents the results of the synthesis, a detailed kinetics study, and an investigation of the biological activity of silver nanoparticles (AgNPs) in aqueous solutions of N-reacetylated oligochitosan hydrochloride. UV-visible spectrophotometry and dynamic light scattering were employed to control silver ion reduction. The process was observed to follow a pseudo-first-order law.

Antibacterial Bionanocomposites Based on Drug-Templated Bifunctional Mesoporous Silica Nanocontainers.

The creation of antibacterial nanocomposites that provide prolonged release of encapsulated drugs is of great interest for various fields of medicine (dentistry, tissue regeneration, etc.). This article demonstrates the possibility of creating such nanocomposites based on sodium alginate and drug-templated mesoporous silica nanocontainers (MSNs) loaded with two bioactive substances.

Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series.

Objective: We describe the clinical and genetic characteristics of fetuses and infants diagnosed with tuberous sclerosis complex (TSC) in our centre, prenatally or neonatally, for a better understanding of the benefits of early screening.

Methods: In this retrospective study, we analysed the data on one fetus and nine infants with a definitive TSC diagnosis by genetic criteria (five patients carrying variants and 5 patients carrying variants). We explored the differences between phenotypes of patients carrying and pathogenic variants.

Protocol Optimization for Direct Reprogramming of Primary Human Fibroblast into Induced Striatal Neurons.

The modeling of neuropathology on induced neurons obtained by cell reprogramming technologies can fill a gap between clinical trials and studies on model organisms for the development of treatment strategies for neurodegenerative diseases. Patient-specific models based on patients' cells play an important role in such studies. There are two ways to obtain induced neuronal cells.

Dual-Responsive and Reusable Optical Sensors Based on 2,3-Diaminoquinoxalines for Acidity Measurements in Low-pH Aqueous Solutions.

This work is focused on the age-old challenge of developing optical sensors for acidity measurements in low-pH aqueous solutions (pH < 5). We prepared halochromic (3-aminopropyl)amino-substituted quinoxalines and possessing different hydrophilic-lipophilic balance (HLB) and investigated them as molecular components of pH sensors. Embedding the hydrophilic quinoxaline into the agarose matrix by sol-gel process allows for fabrication of pH responsive polymers and paper test strips.

De Novo Variant in the Gene as a Possible Cause of Neonatal Seizures.

Background: The reduction in next-generation sequencing (NGS) costs allows for using this method for newborn screening for monogenic diseases (MDs). In this report, we describe a clinical case of a newborn participating in the EXAMEN project (ClinicalTrials.gov Identifier: NCT05325749).

Synthesis of Magneto-Controllable Polymer Nanocarrier Based on Poly(N-isopropylacrylamide-co-acrylic Acid) for Doxorubicin Immobilization.

In this work, the preparation procedure and properties of anionic magnetic microgels loaded with antitumor drug doxorubicin are described. The functional microgels were produced via the in situ formation of iron nanoparticles in an aqueous dispersion of polymer microgels based on poly(N-isopropylacrylamide-co-acrylic acid) (PNIPAM-PAA). The composition and morphology of the resulting composite microgels were studied by means of X-ray diffraction, Mössbauer spectroscopy, IR spectroscopy, scanning electron microscopy, atomic-force microscopy, laser microelectrophoresis, and static and dynamic light scattering.

In Vivo Penetrating Microelectrodes for Brain Electrophysiology.

In recent decades, microelectrodes have been widely used in neuroscience to understand the mechanisms behind brain functions, as well as the relationship between neural activity and behavior, perception and cognition. However, the recording of neuronal activity over a long period of time is limited for various reasons. In this review, we briefly consider the types of penetrating chronic microelectrodes, as well as the conductive and insulating materials for microelectrode manufacturing.

New Positive TRPC6 Modulator Penetrates Blood-Brain Barrier, Eliminates Synaptic Deficiency and Restores Memory Deficit in 5xFAD Mice.

Synapse loss in the brain of Alzheimer's disease patients correlates with cognitive dysfunctions. Drugs that limit synaptic loss are promising pharmacological agents. The transient receptor potential cation channel, subfamily C, member 6 (TRPC6) regulates the formation of an excitatory synapse.

A 50% increase in the terbium-based OLED luminance through reducing the excited-state lifetime due to the introduction of gold nanoparticles.

An increase in the efficiency for a terbium-based OLED was achieved by introducing gold nanoparticles into the PEDOT:PSS hole injection layer and was mainly due to the improvement in carrier injection and the reduction of the excited-state lifetime. The introduction of plasmon-resonant gold nanoparticles resulted in a 50% increase in the Tb(czb)TDZP luminance, which reached 480 cd m and is the highest result for OLEDs based on aromatic carboxylates.

Ultrasonic Film Rehydration Synthesis of Mixed Polylactide Micelles for Enzyme-Resistant Drug Delivery Nanovehicles.

A facile technique for the preparation of mixed polylactide micelles from amorphous poly-D,L-lactide-block-polyethyleneglycol and crystalline amino-terminated poly-L-lactide is described. In comparison to the classical routine solvent substitution method, the ultrasonication assisted formation of polymer micelles allows shortening of the preparation time from several days to 15-20 min. The structure and morphology of mixed micelles were analyzed with the assistance of electron microscopy, dynamic and static light scattering and differential scanning calorimetery.

Astrocyte Activation Markers.

Astrocytes are the most common type of glial cells that provide homeostasis and protection of the central nervous system. Important specific characteristic of astrocytes is manifestation of morphological heterogeneity, which is directly dependent on localization in a particular area of the brain. Astrocytes can integrate into neural networks and keep neurons active in various areas of the brain.

Orientation in the European common frog Rana temporaria during the first wintering migration.

The orientation of naive animals during their first migration is extensively studied in birds and sea turtles, whereas the data for other groups such as amphibians are still scarce. To date, it is unknown whether young-of-the-year anurans perform a random or directional search for the hibernation sites, and what cues (global or local) they use. We conducted a series of field experiments to study the orientation behavior of juvenile common frogs during their first wintering migration.

Hydrophilization of Hydrophobic Mesoporous High-Density Polyethylene Membranes via Ozonation.

This work addresses hydrophilization of hydrophobic mesoporous membranes based on high-density polyethylene (HDPE) via ozonation. Mesoporous HDPE membranes were prepared by intercrystallite environmental crazing. Porosity was 50%, and pore dimensions were below 10 nm.

Modification of Polydiallyldimethylammonium Chloride with Sodium Polystyrenesulfonate Dramatically Changes the Resistance of Polymer-Based Coatings towards Wash-Off from Both Hydrophilic and Hydrophobic Surfaces.

Polymer coatings based on polycations represent a perspective class of protective antimicrobial coatings. Polydiallyldimethylammonium chloride (PDADMAC) and its water-soluble complexes with sodium polystyrenesulfonate (PSS) were studied by means of dynamic light-scattering, laser microelectrophoresis and turbidimetry. It was shown that addition of six mol.

An Open-Source Wireless Electrophysiological Complex for In Vivo Recording Neuronal Activity in the Rodent's Brain.

Multi-electrode arrays (MEAs) are a widely used tool for recording neuronal activity both in vitro/ex vivo and in vivo experiments. In the last decade, researchers have increasingly used MEAs on rodents in vivo. To increase the availability and usability of MEAs, we have created an open-source wireless electrophysiological complex.

Gender Characteristics of the Novel Coronavirus Infection (COVID-19) in Middle-Aged Adults.

Unlabelled: is to assess the gender-related specifics of the COVID-19 course in patients under 55 years of age.

Materials And Methods: This pilot single-center continuous retrospective non-randomized study was carried out in the repurposed infectious diseases hospital of the Privolzhsky Research Medical University (Nizhny Novgorod, Russia). The study inclusion criterion was the age of patients (up to 55 years) and confirmed coronavirus infection.

Optogenetic Activation of Astrocytes-Effects on Neuronal Network Function.

Optogenetics approach is used widely in neurobiology as it allows control of cellular activity with high spatial and temporal resolution. In most studies, optogenetics is used to control neuronal activity. In the present study optogenetics was used to stimulate astrocytes with the aim to modulate neuronal activity.

Natural history of Valentin's rock lizard (Darevskia valentini) in Armenia.

Valentin's rock lizard () is suggested to be the parent for several parthenogenetic species (e.g., , , and ) that evolved through hybridization.