Nonrecurrent Triplication of 5q21.3q23.3: A Case Report and Review of the Literature.

Triplications involving 5q21.3q23.3 are rare, and a phenotype has not been established.

Phylogenetic analysis of variants of the Puumala virus (Hantaviridae: ) circulating in the Saratov region.

Unlabelled: The objective is to determine the complete nucleotide sequence and conduct a phylogenetic analysis of genome variants of the Puumala virus isolated in the Saratov region.

Materials And Methods: The samples for the study were field material collected in the Gagarinsky (formerly Saratovsky), Engelssky, Novoburassky and Khvalynsky districts of the Saratov region in the period from 2019 to 2022. To specifically enrich the Puumala virus genome in the samples, were used PCR and developed a specific primer panel.

Distribution of dissolved trace elements in the Laptev Sea affected by the Lena River discharge.

This study presents new data on concentration of dissolved trace elements (DTE) in the Lena River-Laptev Sea mixing zone. Mean concentrations of some dissolved heavy metals in the mixing zone of fresh waters of the Lena River and sea waters of the Laptev Sea on the middle shelf and on the outer shelves are: 0.7± 0.

Phylogenetic Characterization of Rabies Virus Field Isolates Collected from Animals in European Russian Regions in 2009-2022.

Rabies is a fatal disease of mammals that poses a high zoonotic risk to humans as well. The distribution of rabies is mainly driven by host animal migration and human-mediated dispersion. To contribute to the global understanding of the rabies virus (RABV) molecular epidemiology, 94 RABV field isolates collected from animals in 13 European Russian regions were phylogenetically characterized using the nearly full-size N gene nucleotide sequences.

A novel de novo intragenic duplication in FBN1 associated with early-onset Marfan syndrome in a 16-month-old: A case report and review of the literature.

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder due to pathogenic variants in Fibrillin-1 (FBN1) affecting nearly one in every 10,000 individuals. We report a 16-month-old female with early-onset MFS heterozygous for an 11.2 kb de novo duplication within the FBN1 gene.

Analysis of Avian Orthoavulavirus 1 Detected in the Russian Federation between 2017 and 2021.

Newcastle disease virus () is a contagious high-impact poultry pathogen with infections detected worldwide. In the present study, 19,500 clinical samples from wild bird species and poultry collected from 28 regions of Russia between 2017 and 2021 were screened for the presence of the genome. NDV RNA was detected in 15 samples from wild birds and 63 samples from poultry.

and exon 20 insertion/duplication in advanced non-small cell lung cancer: genomic profiling and clinicopathologic features.

Background: Exon 20 (ex20) in-frame insertions or duplications (ins/dup) in epidermal growth factor receptor () and its analog erb-b2 receptor tyrosine kinase 2 () are each detected in 1.5% of non-small cell lung cancer (NSCLC). Unlike p.

Current clinical practices and challenges in molecular testing: a GOAL Consortium Hematopathology Working Group report.

While molecular testing of hematologic malignancies is now standard of care, there is variability in practice and testing capabilities between different academic laboratories, with common questions arising on how to best meet clinical expectations. A survey was sent to hematopathology subgroup members of the Genomics Organization for Academic Laboratories consortium to assess current and future practice and potentially establish a reference for peer institutions. Responses were received from 18 academic tertiary-care laboratories regarding next-generation sequencing (NGS) panel design, sequencing protocols and metrics, assay characteristics, laboratory operations, case reimbursement, and development plans.

Postural influence on intracranial fluid dynamics: an overview.

This review focuses on the effects of different body positions on intracranial fluid dynamics, including cerebral arterial and venous flow, cerebrospinal fluid (CSF) hydrodynamics, and intracranial pressure (ICP). It also discusses research methods used to quantify these effects. Specifically, the implications of three types of body positions (orthostatic, supine, and antiorthostatic) on cerebral blood flow, venous outflow, and CSF circulation are explored, with a particular emphasis on cerebrovascular autoregulation during microgravity and head-down tilt (HDT), as well as posture-dependent changes in cerebral venous and CSF flow, ICP, and intracranial compliance (ICC).

Multiple sclerosis patients have an altered gut mycobiome and increased fungal to bacterial richness.

Trillions of microbes such as bacteria, fungi, and viruses exist in the healthy human gut microbiome. Although gut bacterial dysbiosis has been extensively studied in multiple sclerosis (MS), the significance of the fungal microbiome (mycobiome) is an understudied and neglected part of the intestinal microbiome in MS. The aim of this study was to characterize the gut mycobiome of patients with relapsing-remitting multiple sclerosis (RRMS), compare it to healthy controls, and examine its association with changes in the bacterial microbiome.

Genomic Profiling of Metastatic Uveal Melanoma Shows Frequent Coexisting BAP1 or SF3B1 and GNAQ/GNA11 Mutations and Correlation With Prognosis.

Objectives: To identify therapeutic targets and correlate with clinical outcomes from mutation profiling of metastatic uveal melanoma (UM) using next-generation sequencing (NGS).

Methods: Melanoma cases that were tested using DNA-based NGS panels of 25 and/or 214 genes were evaluated retrospectively (263 cases) and identified 27 UM cases. BAP1 expression was examined by immunohistochemistry.

PTCH1-GLI1 Fusion-Positive Ovarian Tumor: Report of a Unique Case With Response to Tyrosine Kinase Inhibitor Pazopanib.

Recurrent GLI1 gene fusions have been recently described in a subset of soft tissue tumors showing a distinct monotonous epithelioid morphology with a rich capillary network and frequent S100 protein expression. Three different fusion partners-ACTB, MALAT1, and PTCH1-have been reported with the PTCH1-GLI1 fusion from 2 patients only, both with head and neck tumors. Herein, we report for the first time a PTCH1-GLI1 fusion in a primary ovarian tumor from a female patient aged 54 years who presented with a 21-cm right ovarian mass and mesenteric metastasis.

HLA Class II Polymorphisms Modulate Gut Microbiota and Experimental Autoimmune Encephalomyelitis Phenotype.

Multiple sclerosis (MS) is an autoimmune disease of the CNS in which the interaction between genetic and environmental factors plays an important role in disease pathogenesis. Although environmental factors account for 70% of disease risk, the exact environmental factors associated with MS are unknown. Recently, gut microbiota has emerged as a potential missing environmental factor linked with the pathobiology of MS.

[Possibilities of ultrasound methods in diagnostics of eyelid tumors].

Purpose: To determine the informative value of ultrasound biomicroscopy (UBM) with A-scan for assessment of qualitative and quantitative characteristics of eyelid tumors less than 5 mm in size.

Material And Methods: The study included 25 patients (25 eyes) with eyelid tumors less than 5 mm in size. In addition to standard ophthalmic examination, complex ultrasound diagnostics including B-scan, Color Doppler imaging and UBM with A-scan were performed.

Microbiota Analysis Using Two-step PCR and Next-generation 16S rRNA Gene Sequencing.

The human gut is colonized by trillions of bacteria that support physiologic functions such as food metabolism, energy harvesting, and regulation of the immune system. Perturbation of the healthy gut microbiome has been suggested to play a role in the development of inflammatory diseases, including multiple sclerosis (MS). Environmental and genetic factors can influence the composition of the microbiome; therefore, identification of microbial communities linked with a disease phenotype has become the first step towards defining the microbiome's role in health and disease.

Urothelial carcinoma with an rearrangement and response to targeted therapy.

Although mutations are commonly identified in many solid tumors and the response of p.V600E-positive tumors to targeted therapy is well documented, rearrangements are less frequent and are predominantly found in low-grade glioma, melanoma, lung, colorectal, and thyroid carcinoma. Preclinical and clinical studies have demonstrated effectiveness of multiple therapies (RAF-targeted, ERK-targeted, or MEK-targeted) targeting -fusion harboring tumors.

Phylogeny and Classification of Through the Lens of Strains From the Plague Foci of Commonwealth of Independent States.

The established phylogeny of the etiological agent of plague, , is not perfect, as it does not take into account the strains from numerous natural foci of Commonwealth of Independent States (CIS). We have carried out PCR and SNP typing of 359 strains and whole genome sequencing of 51 strains from these plague foci and determined the phylogenetic diversity of the strains circulating here. They belong to 0.

Simultaneous detection of single-nucleotide variant, deletion/insertion, and fusion in lung and thyroid carcinoma using cytology specimen and an RNA-based next-generation sequencing assay.

Background: Molecular testing for epidermal growth factor receptor (EGFR) mutation and anaplastic lymphoma kinase (ALK) and ROS proto-oncogene 1, receptor tyrosine kinase (ROS1) fusion is routinely performed in patients with stage IV lung adenocarcinoma to assess their eligibility for targeted therapy. Fine-needle aspiration (FNA)-derived material frequently is the only pathologic material available. The identification of genomic aberrations in thyroid nodules from FNA smears may help stratify cancer risk and spare patients from a second surgery.

Yersinia pestis strains of ancient phylogenetic branch 0.ANT are widely spread in the high-mountain plague foci of Kyrgyzstan.

Fifty six Yersinia pestis strains, isolated over the period of more than 50 years in three high-mountain foci of Kyrgyzstan (Tien Shan, Alai, and Talas), have been characterized by means of PCR and single nucleotide polymorphism (SNP) typing methods. Seven of these strains were also characterized by means of whole genome sequencing and genome-wide SNP phylogenetic analysis. It was found that forty two strains belong to 0.

Sources and behaviour of nitrogen compounds in the shallow groundwater of agricultural areas (Poyang Lake basin, China).

Nitrogen contamination of natural water is a typical problem for various territories throughout the world. One of the regions exposed to nitrogen pollution is located in the Poyang Lake basin. As a result of agricultural activity and dense population, the shallow groundwater of this area is characterised by a high concentration of nitrogen compounds, primarily NO, with the concentration varying from 0.

Anchored multiplex PCR for targeted next-generation sequencing reveals recurrent and novel USP6 fusions and upregulation of USP6 expression in aneurysmal bone cyst.

Primary aneurysmal bone cyst (ABC) is a neoplastic process due to recurrent translocations involving the USP6 gene. By fluorescence in situ hybridization, up to 69% of primary ABCs harbored USP6 translocations; no USP6 translocation was found in secondary ABC or giant cell tumor of bone (GCT). GCT can recur locally, metastasize to the lungs in some cases, and rarely undergo malignant transformation.

STRUCTURAL ORGANIZATION OF PORIN GENES (INTACT AND DISRUPTED BY IS 100) BORDERING THE PGM LOCUS OF THE YERSINIA PESTIS AND YERSINIA PSEUDOTUBERCULOSIS STRAINS.

In highly virulent strains of Yersinia pestis, the porin gene border- ing pigmentation (pgm) locus was observed to be usually broken by IS100. In this case, the pgm locus that carries virulence genes (high pathogenicity island) and biofilm formation genes (hms operon) is flanked by direct copies of IS100, which can cause its destabilization. We studied the prevalence of the intact and dis- rupted porin genes among 240 strains of Y.

The NAB2-STAT6 gene fusion in solitary fibrous tumor can be reliably detected by anchored multiplexed PCR for targeted next-generation sequencing.

Solitary fibrous tumor (SFT) is a mesenchymal tumor of fibroblastic origin, which can affect any region of the body. 10-15% of SFTs metastasize and metastatic tumors are uniformly lethal with no effective therapies. The behavior of SFT is difficult to predict based on morphology.

Struma Ovarii With Malignant Transformation and Germline KIT Mutation: A Case Report With Review of the Literature.

Struma ovarii accounts for 5% of ovarian teratomas. Malignant transformation occurs in <0.3%, however, the underlying molecular mechanism is unknown.

Eight per cent leakage of Lyman continuum photons from a compact, star-forming dwarf galaxy.

One of the key questions in observational cosmology is the identification of the sources responsible for ionization of the Universe after the cosmic 'Dark Ages', when the baryonic matter was neutral. The currently identified distant galaxies are insufficient to fully reionize the Universe by redshift z ≈ 6 (refs 1-3), but low-mass, star-forming galaxies are thought to be responsible for the bulk of the ionizing radiation. As direct observations at high redshift are difficult for a variety of reasons, one solution is to identify local proxies of this galaxy population.