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Molecular Mechanisms of Rett Syndrome: Emphasizing the Roles of Monoamine, Immunity, and Mitochondrial Dysfunction.
Cells
December 2024
Department of Neurobiology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Rett syndrome (RTT), which predominantly affects females, arises in most cases from mutations in the () gene. When MeCP2 is impaired, it disrupts the regulation of numerous genes, causing the production of dysfunctional proteins associated with various multi-systemic issues in RTT. In this review, we explore the current insights into molecular signaling related to monoamines, immune response, and mitochondrial function, and their implications for the pathophysiology of RTT.
View Article and Find Full Text PDFDevelopment of Preliminary Criteria of Macrophage Activation Syndrome in Multisystem Inflammatory Syndrome Associated with COVID-19 in Children.
Biomedicines
December 2024
Hospital Pediatrics, Saint Petersburg State Pediatric Medical University, Saint Petersburg 194100, Russia.
Macrophage activation syndrome (MAS) can be regarded as a key factor determining the severity of multisystem inflammatory syndrome associated with COVID-19 in children (MIS-C), and often requires treatment in the intensive care unit (ICU) to avoid life-threatening complications. No reputable specific criteria for the diagnosis of MAS in MIS-C patients have yet been identified, and criteria currently used for the diagnosis of hemophagocytic syndromes, such as HLH-2004, MAS-2005, and MAS-2016, are not sufficient for MAS in MIS-C. Our goal in this study was to work out the criteria for the early diagnosis of MAS in MIS-C.
View Article and Find Full Text PDFOcular Manifestations of IBD: Pathophysiology, Epidemiology, and Iatrogenic Associations of Emerging Treatment Strategies.
Biomedicines
December 2024
Department of Gastroenterology, The Royal Wolverhampton NHS Trust, Wolverhampton WV10 0QP, UK.
Inflammatory bowel disease (IBD) is a complex, multisystemic disease and is associated with ocular pathology in 4-12% of patients. In general, ocular disease affects Crohn's patients more frequently than those with ulcerative colitis. Episcleritis and uveitis are the most common presentations, with episcleritis often correlating with IBD flares, whereas uveitis presents independently of IBD activity and, in some cases, may even alert clinicians to a new diagnosis of IBD.
View Article and Find Full Text PDFRheumatic Manifestations of Sarcoidosis.
Diagnostics (Basel)
December 2024
North Bristol NHS Foundation Trust, Bristol BS10 5NB, UK.
Sarcoidosis is a multisystem granulomatous inflammatory disorder, of unknown aetiology, which causes a wide spectrum of clinical phenotypes. It can present at any age, most commonly between 20 and 60 years, with a roughly equal sex distribution. Diagnosis is often delayed due to multiple diagnostic mimics, particularly joint disease.
View Article and Find Full Text PDFDistinguishing Multisystem Inflammatory Syndrome in Children from Typhus Using Artificial Intelligence: MIS-C vs. Endemic Typhus (AI-MET).
J Infect Dis
January 2025
Computational Biomedicine Lab, Department of Computer Science, University of Houston; Houston, TX 77204, USA.
Background: The pandemic emergent disease multisystem inflammatory syndrome in children (MIS-C) following coronavirus disease-19 infection can mimic endemic typhus. We aimed to use artificial intelligence (AI) to develop a clinical decision support system that accurately distinguishes MIS-C versus Endemic Typhus (MET).
Methods: Demographic, clinical, and laboratory features rapidly available following presentation were extracted for 133 patients with MIS-C and 87 patients hospitalized due to typhus.
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