Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.

Background: Fabry disease (FD) is a rare hereditary multisystem disease caused by variants of the gene. Determination of gene variants and identification of genotype-phenotype correlations allow us to explain the features of FD associated with predominant damage of one or another system, both in the classical and atypical forms of FD, as well as in cases with late manifestation and involvement of one of the systems.

Methods: The study included 293 Russian patients with pathogenic variants of the gene, which were identified as a result of various selective screening programs.

Aminooxy Click Modification of a Periodate-Oxidized Immunoglobulin G: A General Approach to Antibody-Drug Conjugates with Dye-Mediated Expeditious Stoichiometry Control.

A universal approach to the construction of antibody-drug conjugates (ADCs) has been developed. It relies on periodate oxidation of naturally present glycans of immunoglobulin G, followed by oxime ligation and, optionally, copper(I)-catalyzed alkyne-azide cycloaddition for conjugation with a toxic payload. The introduction of highly absorbing cyanine dyes into the linker allows for facile determination of the drug-antibody ratio.

Branched Linkers for Site-Specific Fluorescent Labeling of Antibodies.

Fluorescent antibodies have proved to be an invaluable tool for molecular biology and diagnostics. They are routinely produced by modification of lysine residues, which leads to high heterogeneity. As such, their affinity may be compromised if the antigen-binding site is affected, the probability of which increases along with the degree of labeling.

Medical student exam performance and perceptions of a COVID-19 pandemic-appropriate pre-clerkship medical physiology and pathophysiology curriculum.

Background: Medical schools were compelled to abruptly transition pre-clerkship curricula to remote learning formats due to the emergence of the Coronavirus Disease 2019 (COVID-19) pandemic. We evaluated student perceptions of remote learning, exam performance, and utilization of third-party learning resources to assess the implementation of a newly developed pandemic-appropriate physiology curriculum.

Methods: This was an observational study based on a survey conducted in the Spring of 2021 at the University of California, Irvine, School of Medicine (UCISOM).

The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology.

Background: There is a vast number of screening studies described in the literature from the beginning of the twenty-first century to the present day. Many of these studies are related to the estimation of Fabry disease (FD) morbidity among patients from high-risk groups, including adult patients with hypertrophic cardiomyopathy (HCM) and left ventricular hypertrophy (LVH). These studies show diverse detection frequencies (0-12%) depending on the methodology.

Sensitive Immunofluorescent Detection of the PRAME Antigen Using a Practical Antibody Conjugation Approach.

Bioconjugation of antibodies with various payloads has diverse applications across various fields, including drug delivery and targeted imaging techniques. Fluorescent immunoconjugates provide a promising tool for cancer diagnostics due to their high brightness, specificity, stability and target affinity. Fluorescent antibodies are widely used in flow cytometry for fast and sensitive identification and collection of cells expressing the target surface antigen.

A Preference for Peers over Faculty in the Pandemic Era: Development and Evaluation of a Medical Student-led Virtual Physiology Exam Review.

In the middle of the COVID-19 pandemic, students at the University of California, Irvine, reimagined their peer-led, small-group, tutorial sessions into an online format. The virtual sessions improved student-reported understanding of physiological principles and reduced exam anxiety. Peer-led review remains a valuable resource in the era of virtual medical education.

Transforming University of California, Irvine medical physiology instruction into the pandemic era.

At the University of California, Irvine, School of Medicine (UCISOM), the COVID-19 pandemic is accelerating the transition of face-to-face didactic lectures to online platforms. Institutions nationwide have opted to transition their lectures into remote instruction for the upcoming Fall 2020 academic year. UCISOM's pre-clerkship Medical Immunology course in the Spring 2020 serves as a template for other medical courses to successfully transform lecture content into virtual presentations.

Alterations in brain TREM2 and Amyloid-β levels are associated with neurocognitive impairment in HIV-infected persons on antiretroviral therapy.

Neuroinflammation is a common pathological correlate of HIV-associated neurocognitive disorders (HAND) in individuals on antiretroviral therapy (ART). Triggering receptor expressed on myeloid cells 2 (TREM2) regulates neuroinflammation, clears extracellular Amyloid (A)-β, surveys for damaged neurons, and orchestrates microglial differentiation. TREM2 has not been studied in HIV+ brain tissues.

Spectral properties and structure of unsymmetrical diarylethenes based on thiazole ring with hydrogen at the reactive carbon.

Six new photoactive unsymmetrical diarylethenes bearing thiazole ring with hydrogen at the reactive carbon atom have been synthesized. Their structures have been studied by DFT calculations and X-ray crystallography. All compounds undergo irreversible photochemical transformations under irradiation with ultraviolet light, proceeding through the photocyclization stage.

[Reversible hypokinetic cardiomyopathy revealing severe hypocalcemia].

Dilated cardiomyopathy may be primary or secondary. Although some causes are well known, such as toxic substances (alcohol, chemotherapy..