Case report: A case study of variant calling pipeline selection effect on the molecular diagnostics outcome.

Next-generation sequencing technologies have not only defined a breakthrough in medical genetics, but also been able to enter routine clinical practice to determine individual genetic susceptibilities. Modern technological developments are routinely introduced to genetic analysis overtaking the established approaches, potentially raising a number of challenges. To what extent is the advantage of new methodologies in synthetic metrics, such as precision and recall, more important than stability and reproducibility? Could differences in the technical protocol for calling variants be crucial to the diagnosis and, by extension, the patient's treatment strategy? A regulatory review process may delay the incorporation of potentially beneficial technologies, resulting in missed opportunities to make the right medical decisions.

Neurotranscriptomic and behavioral effects of ISRIB, and its therapeutic effects in the traumatic brain injury model in zebrafish.

Traumatic brain injury (TBI) is a global medical concern and has a lasting impact on brain activity with high risks of mortality. Current treatments are inadequate for repairing damaged brain cells or correcting cognitive and behavioral disabilities in TBI patients. Mounting evidence links TBI to the activation of the Integrated Stress Response (ISR) signaling in the brain.

[Meta-analysis of experimental studies of the effect of melatonin monotherapy on the levels of thyroid hormones and glucocorticoids in rats kept under standard condition].

Background: Melatonin is known to modulate circadian and seasonal rhythms in metabolism, reproduction, and behavior. However, the effect of exogenous melatonin supplementation on the functioning of the thyroid and adrenal glands in species without a clear seasonality in reproduction is still unclear.

Aim: Using a meta-analysis of publications, to investigate the effect of melatonin monotherapy on the concentrations of pituitary thyroid-stimulating hormone, thyroid hormones (TG), pituitary adrenocorticotropic hormone and corticosterone (CS) in rats kept under standard laboratory conditions.

[Long-term goflkicept therapy for patients with idiopathic recurrent pericarditis: results of the interim analysis of an ongoing open-label extension study].

Aim: To evaluate the long-term safety and efficacy of goflkicept treatment in patients with idiopathic recurrent pericarditis (IRP).

Materials And Methods: This report presents the interim analysis of an ongoing open-label extension (OLE) clinical trial of goflkicept in patients with IRP (NCT05673902), as a continuation of the core study (NCT04692766). The study assessed the frequency of pericarditis recurrence, time to recurrence after 12 and 60 weeks of goflkicept therapy, changes in C-reactive protein level, chest pain intensity, pericardial effusion size, and adverse events (AEs).

Predictive markers of response to immune checkpoint inhibitor rechallenge in metastatic non-small cell lung cancer.

Aim: The present study aims to evaluate the efficacy of rechallenge with immune checkpoint inhibitors (ICIs) compared to chemotherapy and the predictive role of clinical parameters in non-small cell lung cancer (NSCLC) patients who were rechallenged.

Methods: The study included 113 metastatic NSCLC patients who had initially responded to ICIs and platinum-based chemotherapy, either in combination in the first line or sequentially in the first and second line, but later experienced disease progression. Of those patients, 52 later received ICI rechallenge and 61 were exposed to chemotherapy.

The Wound-Healing Effect of a Novel Fibroblasts-Impregnated Hydroxyethylcellulose Gel in a Rat Full-Thickness Burn Model: A Preclinical Study.

The objective of this study was to assess the efficacy of a cell-containing wound dressing based on fibroblasts in hydroxyethylcellulose (HEC) gel for the local treatment of deep partial-thickness and/or full-thickness skin burns in an animal model. The rats (male Wistar, n = 100) were subjected to a full-thickness thermal burn (16 cm). Radical necrectomy was performed one day after the burn.

[Pathogenesis and pathological anatomy of chlamydial infections].

The review presents modern view on the global problem of chlamydial infections. Current nomenclature of chlamydiae was adduced. Epidemiology, etiology, clinical features, pathogenesis, diagnosis and treatment of chlamydiosis received full coverage.

[Clinical, laboratory and morphological comparisons in cellular alteration under conditions of hypoxia].

Objective: To compare structural changes in tissues with clinical and laboratory parameters and immunohistochemical determination of proteins HIF1α, HIF2α, caspase-3 during cellular alteration under conditions of hypoxia in the liver and kidneys in an experiment on pigs.

Material And Methods: Laboratory parameters related to the state of gas exchange (decrease in partial pressure of arterial blood oxygen (PaO2), arterial blood saturation, lactate level, kidney function (creatinine, urea) and liver (ALT, AST, bilirubin) in 18 animals were analyzed in comparison with the results of a morphological study. Histological examination evaluated alterative and inflammatory tissue changes of varying severity, and also determined the expression of transcription factors HIF1α and HIF2α and a marker of apoptosis - caspase-3.

Differential Diagnosis of Tuberculosis and Sarcoidosis by Immunological Features Using Machine Learning.

Despite the achievements of modern medicine, tuberculosis remains one of the leading causes of mortality globally. The difficulties in differential diagnosis have particular relevance in the case of suspicion of tuberculosis with other granulomatous diseases. The most similar clinical and radiologic changes are sarcoidosis.

Classics in Chemical Neuroscience: Deliriant Antihistaminic Drugs.

Antihistaminic drugs are widely used clinically and have long been primarily known for their use to treat severe allergic conditions caused by histamine release. Antihistaminic drugs also exert central nervous system (CNS) effects, acting as anxiolytics, hypnotics, and neuroleptics. However, these drugs also have multiple serious neuropharmacological side-effects, inducing delirium, hyperarousal, disorganized behavior, and hallucinations.

Ketamine modulates the exploratory dynamics and homebase-related behaviors of adult zebrafish.

Anxiety can be a protective emotion when animals face aversive conditions, but is commonly associated with various neuropsychiatric disorders when pathologically exacerbated. Drug repurposing has emerged as a valuable strategy based on utilizing the existing pharmaceuticals for new therapeutic purposes. Ketamine, traditionally used as an anesthetic, acts as a non-competitive antagonist of the glutamate N-methyl-d-aspartate (NMDA) receptor, and shows potential anxiolytic and antidepressant effects at subanesthetic doses.

Artificial intelligence for predicting mortality in hospitalized COVID-19 patients.

Background: The global demographic situation has been significantly impacted by the COVID-19 pandemic. The objective of this study was to develop a model that predicts the risk of COVID-associated mortality using clinical and laboratory data collected within 72 h of hospital admission.

Materials And Methods: A total of 3024 subjects with PCR-confirmed COVID-19 were admitted to Almazov National Research Medical Center between May 2020 and August 2021.

Ototoxic Effect of Nicotinamide Riboside.

We studied the function of the auditory system in Wistar rats after repeated intravenous administration of nicotinamide riboside (NR). The functional activity of the receptor and retrocochlear parts of the auditory system were assessed by recording short-latency auditory evoked potentials (SLAEPs) and distortion-product otoacoustic emissions (DPOAEs) at baseline, immediately after NR administration, and 1 and 2 months later. Repeated intravenous NR administration (cumulative dose of 2700 mg/kg) to Wistar rats has a detrimental impact on the structures within the cochlear section of the auditory system.

Glioblastoma Multiforme: Sensitivity to Antimicrobial Peptides LL-37 and PG-1, and Their Combination with Chemotherapy for Predicting the Overall Survival of Patients.

Glioblastomas (GBMs) are the most malignant and intractable of all cancers, with an unfavorable clinical prognosis for affected patients. The objective was to analyze the sensitivity of GBM cells to the antimicrobial peptides (AMPs) cathelicidin (LL-37) and protegrin-1 (PG-1), both alone and in combination with chemotherapy, to predict overall survival (OS) in the patients. The study was conducted on 27 GBM patients treated in the neurosurgical department of the Almazov Medical Research Centre (Saint Petersburg, Russia) from 2021 to 2024.

CD68-Negative Histiocytoses with Cardiac Involvement, Associated with COVID-19.

Histiocytoses are rare diseases characterised by infiltration of affected organs by myeloid cells with a monocyte or dendritic cell phenotype. Symptoms can range from self-resolving localised forms to multisystemic lesions requiring specific treatment. To demonstrate extremely rare cases of CD68-negative cardiac histiocytosis with expression of SARS-CoV-2 antigen in infiltrate cells.

Distinct molecular features of FLNC mutations, associated with different clinical phenotypes.

Filamin С is a key an actin-binding protein of muscle cells playing a critical role in maintaining structural integrity and sarcomere organization. FLNC mutations contribute to various types of cardiomyopathies and myopathies through potentially different molecular mechanisms. Here, we described the impact of two clinically distinct FLNC variants (R1267Q associated with arrhythmogenic cardiomyopathy and V2264M associated with restrictive cardiomyopathy) on calcium homeostasis, electrophysiology, and gene expression profile of iPSC-derived patient-specific cardiomyocytes.