Medicine
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Connective tissue disorders, including Marfan syndrome (MS) and Ehlers-Danlos syndrome (EDS), are characterized by genetic mutations affecting connective tissue structural integrity. These disorders significantly elevate the risk of aortic dissection, a life-threatening condition. This comprehensive review delves into the intricate interplay between connective tissue disorders and aortic dissection, shedding light on the clinical features, pathophysiology, genetic underpinnings, diagnostic approaches, clinical management, associated comorbidities, and prognosis, mainly focusing on MS and EDS, while also exploring rare connective tissue disorders and forms of cutis laxa contributing to aortic pathology.
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Systemic lupus erythematosus (SLE) and anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) are 2 different diseases that can manifest in the same person, which are known as SLE/AAV overlap syndrome. This overlap syndrome is difficult to diagnose, a high rate of missed diagnosis and misdiagnosis, and a poor prognosis. ⋯ AAV should be considered in lupus patients with the above symptoms, especially the progressive decrease of hemoglobin. Relevant examinations are needed to confirm the diagnosis. Early diagnosis and accurate treatment of SLE/AAV overlap syndrome are beneficial to patients' better prognosis and control the treatment cost.
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Mitochondrial DNA is implicated in hypertrophic cardiomyopathy (HCM) development. We aimed to identify valuable mtDNAs that contribute to the development of HCM. Differentially expressed mitochondrial DNAs (DEMGs) between HCM and controls were screened. ⋯ Meanwhile, 49 down-regulated pathways were enriched such as the toll-like signaling pathway and natural killer cell-mediated cytotoxicity pathway. The 6 gene-based mRNA-TF-miRNA networks included other 133 TFs and 18 miRNAs. Six DEMGs in HCM, including PDK4, MGST1, TOMM40, LYPLAL1, GATM, and CPT1B, can be indicative of HCM prognosis or disease progression.
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The molecular underpinnings of pediatric asthma present avenues for targeted therapies. A deeper exploration into the significance of differentially expressed autophagy-related genes (DE-ARGs) and their interactions with the long noncoding RNA (lncRNA)-microRNA (miRNA)-mRNA network may offer insights into the pathogenesis of pediatric asthma. DE-ARGs were retrieved from the Gene Expression Omnibus and the Human Autophagy Database. ⋯ Moreover, the quantitative real-time PCR data revealed a pronounced upregulation of Fas cell surface death receptor. The identification of 4 DE-ARGs, especially Fas cell surface death receptor, has shed light on their potential pivotal role in the pathogenesis of pediatric asthma. The established ceRNA network provides novel insights into the autophagy mechanism in asthma and suggests promising avenues for the development of potential therapeutic strategies.
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The brain magnetic resonance imaging (MRI) findings seen in patients with Bell palsy are abnormal contrast enhancement of affected facial nerves. Previous studies were conducted on a few patients, mainly those who had experienced palsy for several weeks. This study investigated the diagnostic usefulness of MRI by examining MRI findings of acute Bell palsy (within 7 days of symptom onset) in a large cohort. ⋯ Of the 110 patients with abnormal findings, 65 (59%) showed contrast enhancement in the labyrinthine segment and 36 (33%) in both the labyrinthine segment and geniculate ganglion. Most patients with Bell palsy who are in the acute phase showed abnormal contrast enhancement in their facial nerves, and similar findings were even observed in the examination conducted on the day of symptom onset. Brain MRI helps in the diagnosis of acute Bell palsy.