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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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The fate and degradation of organic matter in aquatic systems is a vital link in nutrient cycling and sedimentation processes influenced by exogenous and endogenous factors, such as inputs from upstream sources, sediment suspension, and the decomposition of aquatic organisms. The interplay of organic carbon, microbes, and environmental factors shapes the distribution and degradation of organic matter. Characterizing the source distribution of sedimentary organic matter in aquatic systems using novel proxies can unravel new insights into the mechanisms that control its dispersal, preservation and fate, which is essential to understanding the global carbon and nitrogen cycles.

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Introduction: The anterior division of the internal iliac artery (ADIIA) is a crucial vascular structure that supplies blood to the pelvic organs, perineum, and gluteal region. The present study demonstrates practical data concerning the anatomy of the ADIIA and its branches. It is hoped that the results of the current study may aid in localizing the pelvic arteries effectively.

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Incorporating Perineorrhaphy into the LeFort Colpocleisis: A Modified Surgical Approach.

Int Urogynecol J

January 2025

Department of Obstetrics, Gynecology and Reproductive Sciences, Yale School of Medicine, 333 Cedar Street, New Haven, CT, 06511, USA.

Introduction And Hypothesis: Perineorrhaphy with levator myorrhaphy is considered a standard part of colpocleisis. Typically, this is done through a separate incision after colpocleisis is completed. We present a video to demonstrate a modified approach to LeFort colpocleisis incorporating perineorrhaphy into the procedure.

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Idiopathic inflammatory myopathies (IIM), or myositis, are a heterogeneous group of autoimmune disorders that can affect multiple organs, including the muscles, skin, joints, lungs, heart, and gastrointestinal tract. While new-onset myositis has been reported following SARS-CoV-2 infection, cases associated with COVID-19 vaccination remain rare. We describe a unique case of severe progressive edematous facial myositis resembling angioedema in a 22-year-old man, with onset one to two weeks after receiving dual SARS-CoV-2 and influenza vaccinations.

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