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Genomic profiling at a single center cracks the code in inborn errors of immunity.

Intern Emerg Med

January 2025

Unit of Internal Medicine and Clinical Oncology "G. Baccelli", Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro Medical School, Bari, Italy.

Inborn errors of immunity (IEI) entail a diverse group of disorders resulting from hereditary or de novo mutations in single genes, leading to immune dysregulation. This study explores the clinical utility of next-generation sequencing (NGS) techniques in diagnosing monogenic immune defects. Eight patients attending the immunodeficiency clinic and with unclassified antibody deficiency were included in the analysis.

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Nanobodies or variable antigen-binding domains (VH) derived from heavy chain-only antibodies (HcAb) occurring in the Camelidae family offer certain superior physicochemical characteristics like enhanced stability, solubility, and low immunogenicity compared to conventional antibodies. Their efficient antigen-binding capabilities make them a preferred choice for next-generation small biologics. In the present work, we design an anti-SARS-CoV-2 bi-paratopic nanobody drug conjugate by screening a nanobody database.

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The purpose of this study was to evaluate dermatologists' knowledge, attitudes, and practices (KAP) concerning omalizumab therapy for chronic urticaria. We conducted a cross-sectional study in several hospitals in China, mainly in hospitals in Zhejiang Province, during August 1, 2024 - August 15, 2024 using a self-administered KAP questionnaire. Wilcoxon-Mann-Whitney tests and Kruskal-Wallis analysis of variance were performed to compare differences across groups Factors influencing practice were determined through multivariable logistic regression.

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Multiple parameters define the treatment course with biologics for a psoriatic patient while treatment switches are often associated with worse prognosis. The purpose of this study was to describe the switching patterns of biologics for psoriasis in the Greek market landscape and to detect associated factors that may impact the evolvement of selected therapy. This is a retrospective cohort study using data recorded in the nationwide digital prescription database of Greece.

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Background: Speckles tracking echocardiography imaging enables clinicians to detect subtle systolic dysfunction. The aim of the present study was to elucidate the differences in speckle tracking echocardiographic findings between immunoglobulin light chain amyloid cardiomyopathy (AL-CM) and transthyretin amyloid cardiomyopathy (TTR-CM).

Methods: The patients with a confirmed diagnosis of cardiac amyloidosis through cardiac biopsy from March 2013 to October 2022 were included.

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