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Peer interaction can be challenging in autism spectrum disorder, but naturalistic peer-observation scales for preschoolers are scarce. This study examined psychometric qualities of the newly developed Autism Peer Interaction Observation Scale. We tested the Autism Peer Interaction Observation Scale to (a) characterize peer interactions of preschoolers with autism spectrum disorder who were cognitively able versus typical age-mates, (b) explore each group's hierarchical pattern of peer interaction behaviors, and (c) identify Autism Peer Interaction Observation Scale's links with standard reports for assessing social-communication functioning (Vineland Behavior Scales, 2nd ed.), social impairment (Social Responsiveness Scale, 2nd ed.), autism severity (Autism Diagnostic Observation Schedule, 2nd ed.), and intelligence quotient (Mullen) in the cognitively able preschoolers with autism spectrum disorder group. Participants comprised 85 preschoolers (50 cognitively able preschoolers with autism spectrum disorder, intelligence quotient > 75; 35 typical). Groups were matched for age, intelligence quotient, and maternal education. Significant group differences emerged on all Autism Peer Interaction Observation Scale categories, in favor of typical. In cognitively able preschoolers with autism spectrum disorder, correlation analyses indicated that more typical peer relations on Autism Peer Interaction Observation Scale were linked with better adaptive and socialization skills (Vineland Behavior Scales, 2nd ed.) and fewer social atypicalities (Social Responsiveness Scale, 2nd ed.). Higher intelligence quotient scores were linked with better Autism Peer Interaction Observation Scale social-communication functioning. Only a few Autism Peer Interaction Observation Scale social-communication categories significantly correlated with the Autism Diagnostic Observation Schedule, 2nd ed. Findings highlight the Autism Peer Interaction Observation Scale as differentiating between groups and providing knowledge about peer interaction in natural settings. This new tool can help personalize social-communication programs and evaluations of early intervention outcomes.

Data on the effectiveness of a third dose of COVID-19 vaccine in pregnant women are limited. In this observational study, the authors report that a third dose of the BNT162b2 mRNA COVID-19 vaccine during pregnancy enhances protection against maternal adverse COVID-19-related outcomes.

The ongoing pandemic of the new coronavirus infection allows us to discover new information concerning the clinical course of the disease. Despite the rarer registration and mild course of COVID-19 in children, we get new data on more severe manifestations in the form of damage to various organs including cardiovascular system. SARS-CoV-2 can lead to myocarditis development, arrhythmia, heart failure, etc.According to an infectious diseases hospital in Omsk, heart changes were recorded in 5.8% of hospitalized children with COVID-19. The article presents a clinical case of the new coronavirus infection in a child of 15 years old who was on treatment in the infection diseases hospital of Budgetary Healthcare Institution of Omsk Oblast City Children's Clinical Hospital №3 of Omsk. The diagnosis was confirmed by examining nasopharyngeal smears for evidence of RNA SARS-CoV-2 by PCR. The course of infection in this patient is characterized by myocarditis development following medium severity disease without comorbid pathology.

Background. Breast cancer (BC) is the most common female malignancy worldwide. Partner And Localizer of BRCA2 gene (PALB2) is directly involved in DNA damage response. Germline mutation in PALB2 has been identified in breast cancer and familial pancreatic cancer cases, accounting for approximately 1–2% and 3–4%, respectively. The goal of this report was to describe new PALB2 mutation in a young Yakut breast cancer patient with family history of cancer. Material and Methods. Genomic DNA were isolated from blood samples and used to prepare libraries using a capture-based target enrichment kit, Hereditary Cancer Solution™ (SOP HiA GE NETICS , Switzerland), 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). Paired-end sequencing (2 × 150 bp) was conducted using NextSeq 500 system (Illumina, USA ). Results. Here we describe a case of a never-before-reported mutation in the PALB2 gene that led to the early onset breast cancer. We report the case of a 39-year-old breast cancer Yakut woman with a family history of pancreatic cancer. Bioinformatics analysis of the NGS data revealed the presence of the new PALB2 gene germinal frameshift deletion (NM_024675:exon1:c.47delA:p.K16fs). In accordance with dbPubMed ClinVar, new mutation is located in codon of the PALB2 gene, where the likely pathogenic donor splice site mutation (NM_024675.3:c.48+1delG) associated with hereditary cancer-predisposing syndrome has been earlier described. Conclusion. We found a new never-before-reported mutation in PALB2 gene, which probably associated with early onset breast cancer in Yakut indigenous women with a family history of pancreatic cancer.

Macrophages are key components of the innate immune system. The variability of the macrophage’s participation in tumor progression, determined by their functional polarization, opens up a wide prospect for modulating their functional profile, primarily in the direction of increasing antitumor activity. The purpose of the study was to provide up-to-date data on the process of macrophage polarization, mechanisms of its regulation, polarization markers and induction factors. Material and methods. A search was made for available literature sources published in Web of Science, Scopus and other databases. more than 160 sources devoted to the study of the process of macrophage polarization were found, of which 121 were included in this review. Results. This review presents data on the molecular mechanisms and gene signatures associated with M1 and M2 polarization of macrophages. We displayed information on metabolic, phenotypic characteristics and cytokine profile of M1- and M2-macrophages, as well as highlighted data on polarization factors and targets of their action. Conclusion. The information presented in the review can serve as an information base for the development of experimental and clinical approaches for editing the functional profile of macrophages in order to control their involvement in various pathological processes.

Climate change is predicted to have detrimental impacts on sessile invertebrates, including sponges. Mesophotic ecosystems have been suggested to play a major role as refugia for coral reef sponge species, however knowledge regarding the ability of mesophotic sponges to cope with thermal stress is scarce. In this study we compared the response of the sponge Diacarnus erythraeanus, a widespread Red Sea sponge, from the shallow and mesophotic reef, to moderate and acute temperature elevation (2°C and 6°C, respectively) for short and long term periods (two and 35 days, respectively) by measuring physiological parameters (respiration, oxygen removal, pumping rates, and photosynthetic efficiency), and the microbiome composition change. The results indicated that mesophotic and shallow populations of D. erythraeanus are highly tolerant to both moderate and acute heat stress, demonstrating a high survival rate (100%) across the experimental treatments, with no visible signs of bleaching or necrosis. Exposure to heat stress resulted in significant alterations in the physiological parameters of sponges, including higher respiration rate and lower photosynthetic efficiency. These alterations were accompanied by correspondingly significant microbial adjustments, thus emphasizing the essential role of the microbiome in the host’s ability to persist when facing essential environmental stress. Moreover, while shallow and mesophotic sponges showed similar physiological tolerance to heat stress, their microbial response differed: while the microbiome diversity of the mesophotic sponges remained stable throughout the experiment, the shallow one significantly changed. This result suggests that their underlying coping mechanisms might differ between mesophotic and shallow populations. Since the associated-microbiome is largely regulated by the sponge-host genetics, difference in microbial adjustments to stress between populations, could indicate genetic variability between hosts. Therefore, while the results of this study support the hypothesis that mesophotic coral reefs could serve as thermal refugia for some sponge species, it raises the question regarding the validity of MCEs as a refuge for shallow populations. Finally, it emphasizes the crucial need to elucidate the underlying mechanisms governing the sponge-microbiome interactions, specifically in the context of the anticipated climate change scenarios.

Sustainable mobility of students includes a set of actions aimed at bringing to a clean ecological lifestyle. This study is devoted to the development of sustainable mobility of students by means of coworking, the influence of this space on the training of future personnel who are able to master new technologies, apply them to solve practical problems, formulate and solve hypotheses, defend their point of view, work in a team, take responsibility not only for themselves, but also for team members. All this is possible only if there are innovative laboratories that stimulate the joint cognitive activity of students by developing the innovative potential of an educational organization by means of coworking, which motivates collaborations. Despite the increasing attention to the role of sustainable mobility used in the transport sector, at the moment there are few publications devoted to its organization and their functioning in the context of an educational organization. There is no comprehensive understanding of its importance as a mobile space for the development and maintenance of innovations in educational institutions with the possibility of developing the younger generation. That is why the innovation laboratory at the Lyceum is a tool for the formation of motivation to learn natural sciences, which allows them to jointly solve tasks within the framework of project activities, developing sustainable mobility for them. The coworking model of work in the lyceum environment not only contributes to the development of sustainable mobility, but also develops key skills in all participants of the educational process, such as self-organization, time management, presentation and communication skills.

West Siberian mires covering more than 50% of area in the subarctic are still poorly investigated despite their thick peat sediments suitable for paleogeographic research of past long-term landscape and climatic changes. In this research, a combination of paleoecological methods were used, including the analysis of pollen, spores, diatoms, NPPs, and macrofossils, the measurement of peat humification, and quantitative paleoclimate reconstruction. This multi-proxy approach was applied to study a palsa bog (frost peat heave mound) located in the north of western Siberia on the border of the northern taiga and forest–tundra (65°18′56″ N, 72°52′27″ E). Chronology is based on 21 radiocarbon dates, which were calibrated in CLAM. Studies have shown that sediments of palsa bog Nadym of a 1050 cm thickness were formed both in the Holocene and earlier periods of the Quaternary. Radiocarbon dating worked well for peat sequences (610 cm thick), but failed for underlying lacustrine and mineral sediments (440 cm thick). Numerous remains of salt-water diatoms and exotic Neogene pollen were found in the lacustrine sediments (650–850 cm). The oldest sediments (850–1050 cm) have signs of secondary epicryogenic diagenesis in the form of cryogenic iron-enriched granules. Both lacustrine and bottom sediments contain abundant coniferous pollen. At the same time, spore–pollen complexes dated to the Last Glacial Age were not found in low sediments because of failed dates. To explain this, the authors turn to the hypothesis of glyacioisostatic compensation, according to which the study area was uplifted during the Last Glacial Age and the ancient deposits underwent secondary diagenesis in subaerial conditions. Holocene lacustrine sedimentation began to form about 9800 cal. a BP. These lacustrine sediments turned out to be enriched in redeposited Neogene pollen and diatoms. It was interpreted as an influence of excess humid climate in combination with geological subsidence of landscape in the study area during the Early Holocene. This caused lake formation and introduction of exotic microfossils via surface run-off from higher-relief areas in the catchment. Syngenetic sedimentation in the Nadym section is associated only with peat-mire deposits covering the last 8400 cal. a BP. For this time, the dynamic of vegetation cover and quantitative changes in paleoclimate were reconstructed using spore–pollen, macrofossil, humus, and NPP data as well as the information–statistical method of V.A. Klimanov. The spore–pollen analysis revealed four main phases in the development of vegetation cover: 1. Spruce–birch forests with open meadows and lakes (8400–7600 cal. a BP); 2. Dominance of spruce forests and thawed eutrophic (minerotrophic) mires (7600 to 6500 cal. a BP); 3. Coniferous–birch forests and thawed mesotrophic mires (6500 to 4500 cal. a BP); 4. Birch–pine forests and oligotrophic (ombrotrophic) bogs with permafrost mounds—palsa bogs (approx. the last 4500 years). Quantitative reconstructions of paleoclimate based on pollen data show that in most cases the periods of a sharp decrease in mean January and mean July temperatures coincided with episodes of low solar activity. The assumption was made about the determining influence of solar activity on the formation of permafrost in the soils and mires of the study area. Sun minima caused permafrost formation in the mire periodically since 8400 cal. a BP in study peatland, but complete freezing of the peat mire and formation of the palsa bog occurred at c. 2800 cal. a BP.

ObjectiveCarriers of Fragile X premutation may have associated medical comorbidities, such as Fragile X-associated tremor and ataxia (FXTAS) and Fragile X-associated premature ovarian insufficiency (FXPOI). We examined the Fragile X premutation effect on cognition, and we assumed that there is a direct correlation between the continuous spectrum of specific learning and attention deficits to the number of CGG repeats on the FMR1 gene.MethodsA total of 108 women were referred to our center due to a related Fragile X syndrome (FXS) patient, 79 women carried a premutation of 56–199 repeats, and 19 women carried a full mutation of more than 200 CGG repeats on FMR1 gene. Genetic results of CGG repeats, demographic information, structured questionnaires for ADHD, learning disabilities of language and mathematics, and independence level were analyzed in women carrying the FMR1 premutation and compared to the group carrying the full mutation. Women with FXS and FXTAS were excluded.ResultsWhen analyzed as a continuum, there was a significant increase in the following complaints which were associated with a higher number of repeats: specific daily function skills such as driving a car, writing checks, disorientation in directions, and also specific learning difficulties such as spelling and math difficulties. Additionally, when tested as a categorical independent variable, we observe that women with the full mutation were more likely to have ADHD or other learning disability diagnoses in the past than during premutation (

Although often unacknowledged and unrewarded, peer reviewing is a crucial part of the process of academic scholarship. Surprisingly, not much has been written on the process and experience of peer reviewing, besides a few articles in journals of teaching and learning in higher education. Nor has there been much consideration of peer reviewing as a critical component of the academic project within larger efforts to rethink the problematic euro-western, patriarchal and neoliberal logics that underpin higher education. This article makes a contribution to the emerging interest in the peer reviewing process by considering the experiences of authors in this regard and thinking about reviewing as a pedagogical practice which refuses reviewing as an individualist, competitive and gate-keeping practice. We address reviewing as a key component of the project of reconceptualising knowledge-making practices, within the context of current feminist decolonial and new materialist rethinkings of dominant neoliberal scholarship. We propose affirmative, response-able peer reviewing as a critical part of the larger project of challenging current conditions and practices in higher education - for doing academia differently.

Abstract Background The epigenetic age can now be extrapolated from one of several epigenetic clocks, which are based on age-related changes in DNA methylation levels at specific multiple CpG sites. Accelerated aging, calculated from the discrepancy between the chronological age and the epigenetic age, has shown to predict morbidity and mortality rate. We assumed that deconvolution of epigenetic age to its components could shed light on the diversity of epigenetic, and by inference, on inter-individual variability in the causes of biological aging. Results Using the Horvath original epigenetic clock, we identified several CpG sites linked to distinct genes that quantitatively explain much of the inter-personal variability in epigenetic aging, with CpG sites related to secretagogin and malin being the most variable. We show that equal epigenetic age in different subjects can result from variable contribution size of the same CpG sites to the total epigenetic age. In a healthy cohort, the most variable CpG sites are responsible for accelerated and decelerated epigenetic aging, relative to chronological age. Conclusions Of the 353 CpG sites that form the basis for the Horvath epigenetic age, we have found the CpG sites that are responsible for accelerated and decelerated epigenetic aging in healthy subjects. However, the relative contribution of each site to aging varies between individuals, leading to variable personal aging patterns. Our findings pave the way to form personalized aging cards allowing the identification of specific genes related to CpG sites, as aging markers, and perhaps treatment of these targets in order to hinder undesirable age drifting.

Inherited retinal dystrophies (IRD) include a wide range of genetically and phenotypically heterogeneous diseases that lead to progressive loss of vision. With the development of gene therapy, it has become possible to treat two forms of IRD caused by biallelic mutations in the RPE65 gene: isolated retinitis pigmentosa (IRP) type 20 and Leber's congenital amaurosis (LCA) type 2. These nosologies are included in the list of orphan diseases of the Russian Ministry of Health. The success factor for the use of IRD gene therapy is the early stage of the disease, when the viability of retinal cells is preserved. An interdisciplinary approach to diagnostics makes it possible to timely establish the clinical and genetic variant of IRD and refer the patient to targeted therapy. Therefore, at a joint meeting of the Council of Experts of the North-Western Federal District of the Russian Federation, which included ophthalmologists and medical geneticists, a scheme for managing patients with IRD was accepted, including the stages of clinical and functional ophthalmological examination and molecular genetic testing. In addition, regional centers of expertise for IRD were approved in two federal medical institutions in St. Petersburg, whose task is to optimize the quality of diagnosing patients with IRP and LCA.

Gonadotropin-releasing hormone (GnRH(-independent premature puberty in boys, characterized by elevated β-human chorionic gonadotropin (β-hCG) levels, can indicate a secreting germ cell tumor (GCT). These tumors are rare but more common in individuals with Klinefelter syndrome (KS). We present a case of a 7.3-year-old boy with precocious puberty. Physical examination revealed bilateral testicular volumes of 8 to 10 mL and Tanner stage 3 secondary sexual characteristics (genitalia G3, pubic hair P3). His skeletal age was 12 years. Biochemical tests showed suppressed gonadotropin levels, elevated testosterone, and increased β-hCG of 86.6 mIU/mL (86.6 IU/L, reference range: <5 mIU/mL, <5 IU/L). Imaging, including magnetic resonance imaging (MRI), chest x-ray, whole-body computed tomography (CT), and testicular ultrasound, were interpreted as normal except for a small pineal cyst. Karyotype testing confirmed KS. Over 10 months, β-hCG levels fluctuated between 1 to 105 mIU/mL (1-105 IU/L). When β-hCG was 3.6 mIU/mL (3.6 IU/L), a fluorodeoxyglucose positron emission tomography–CT (FDG PET-CT) scan revealed a mediastinal tumor. The tumor was surgically removed and identified as a mature teratoma. This case underscores the importance of karyotype testing and repeated imaging in boys with premature puberty and elevated β-hCG levels, even if β-hCG levels decrease spontaneously and remain low. [ABSTRACT FROM AUTHOR]

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The restrictions and requirements imposed by historic preservation regulations bring about many changes to the rights of property owners. They might impose additional costs, most notably by prohibiting the demolition of designated buildings and thus decreasing property-development opportunities. The objective of this study is to examine what happens following world heritage designations; specifically, if and how such designations impact the property values of historic buildings. Using the hedonic price method, we measure the value of the option to demolish and rebuild that is denied to owners of designated buildings. We also measure the value of preservation regulations, expressed in the prices of apartments in designated buildings. The study area is the “White City” of Tel Aviv, which UNESCO designated as a world heritage site. The findings suggest that the market price of a designated building is on average 12.5% lower than its theoretical value if the building was not subject to historic preservation regulations. Moreover, a premium of approximately 14% was found in the price of apartment units in designated buildings if the building underwent preservation. These findings could have a direct impact on public policies designed to promote the preservation of historical buildings in world heritage sites.

Background: Familial hypocalciuric hypercalcemia (FHH) is a rare condition that affects the calcium sensing receptor and its associated proteins, causing parathyroid hormone (PTH)-mediated hypercalcemia. FHH is inherited in an autosomal dominant pattern. Most persons with FHH are asymptomatic. Case presentation: A 30-year-old Caucasian male was sent for evaluation to our endocrinology unit due to recurrent pancreatitis in the context of chronic hypercalcemia, and a biochemical profile compatible with FHH. Genetic evaluation did not show any mutations associated with pancreatitis but revealed a known heterozygous variant in the AP2S1 gene: c.44G > T, p.Arg15Leu, responsible for FHH type 3 (FHH3). A bone mineral density DXA scan detected low bone mass, in the osteoporotic range, with no other secondary causes. Both his parents were normocalcemic. Treatment with the calcimimetic cinacalcet normalized his blood calcium; no episodes of pancreatitis have occurred during 26 months follow up. The patient's only child was found to have hypercalcemia at age three years. His lab results were compatible with the diagnosis of FHH, and he was found to carry the same AP2S1 gene mutation as his father. His calcium level was elevated but he did not have any symptoms related to hypercalcemia. He was diagnosed with speech delay. Conclusions: We describe a man with a de-novo mutation leading to FHH3, who presented with a rare combination of symptoms, including recurrent pancreatitis and low bone mass, whereas his child presented with speech delay. Hypercalcemia and related FHH3 morbidities may respond to calcimimetics.

In recent years, it became clear that the human unsustainable behaviours’ impact on the environment. Environment protected behavior is especially relevant in the context of the current epidemiological situation ushered by the COVID-19. Environmental awareness is becoming a part of everyday life. The time has come when it is necessary to sacrifice the comfort for the future of the planet. This study primarily focuses on the attitudes of residents of a typical Russian industrial city towards environmental issues and the use of the Energy-Saving Behavior Index (ESBI) as an environmental indicator of sustainable behavior. Our work investigates ESBI and the factors which are associated with domestic energy-saving behavior. We surveyed 599 people in Chelyabinsk, Russia. We studied (1) the socio-demographic factors of residents and their households, (2) mental health and subjective well-being (SWB), and (3) physical health. The study showed that the overwhelming majority of residents of a typical Russian city are extremely dissatisfied with the state of the environment (more than 80% of respondents) and 70% of them believe that they can contribute to improving the situation. However, Russians are still wasteful in household energy consumption. It has been shown that unstable behavior is due to psychological factors and has a compensatory mechanism that is connected with the “feelings-emotions-behavior” sequence.