Int J Med Sci
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Myofibrillar myopathy (MFM) is a group of hereditary myopathies that mainly involves striated muscles. This study aimed to use tandem mass tag (TMT)-based proteomics to investigate the underlying pathomechanisms of two of the most common MFM subtypes, desminopathy and titinopathy. Muscles from 7 patients with desminopathy, 5 with titinopathy and 5 control individuals were included. ⋯ The disparity in glycolysis in the two MFM subtypes is likely due to fiber type switching. This study has revealed disorganization of cytoskeleton and mitochondrial dysfunction as the common pathophysiological processes in MFM, and glycolysis and ECM as the differential pathomechanism between desminopathy and titinopathy. This offers a future direction for targeted therapy for MFM.
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Background: The roles of Forkhead box N1 (FOXN1) in lung squamous cell carcinoma (LUSC) remains elusive. This study was focused on assessing the expression levels of FOXN1 in LUSC and exploring its potential clinical implications. Methods: Utilizing a range of databases, this study conducted an analysis of the FOXN1 gene's expression levels, comparing LUSC samples with those from normal lung tissues. ⋯ Additionally, the expression of FOXN1 was found to have a significant correlation with the grading of LUSC, the presence of lymph node and distant metastases, the stage of the disease, and the survival outcomes (P < 0.05). Conclusion: The expression of FOXN1 is frequently increased in LUSC, and the patients with high FOXN1 expression have a poorer survival outcome. FOXN1 can be a novel biomarker and prognostic indicator for LUSC patients.
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There are more than 70 million people worldwide living with epilepsy, with most experiencing the onset of epilepsy in childhood. Despite the availability of more than 20 anti-seizure medications, approximately 30% of epilepsy patients continue to experience unsatisfactory treatment outcomes. This situation places a heavy burden on patients' families and society. ⋯ Treatment with the JAK/STAT inhibitor WP1066 effectively counteracted this effect in primary astrocytes and CTX-TNA cells. To date, the genes who mutations are known to cause developmental and epileptic encephalopathies (DEEs) are predominantly grouped into six subtypes according to function. Our study revealed that an unreported mutation site Col4a2Mut (c.1838G>T) of which can cause neuroinflammation, may be a type VII DEE-causing gene.
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Background: The regularity of eating, together with other nutritional factors, is one of the important determinants of health. According to previous studies, it is not clear if a greater fluctuation in energy intake is associated with higher body fat and weight gain, or if the weight of people is stable despite these fluctuations in the energy intake. The aim of the study was to verify if a higher variability in the energy intake each day of the week is related to the amount of body fat and other anthropometric parameters. ⋯ The measured values were statistically evaluated by multiple linear regression analysis. Results: The results of the multiple linear regression showed the statistically significant dependence of the percentage of body fat (p<0.01), BMI (p<0.01), and waist circumference (p<0.05) on the relative variability of the daily energy intake. Conclusions: The results of our study suggest that people with more regular energy intake also have better anthropometric parameters related to their cardiometabolic health.
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Pancreatic cancer (PC) is a challenging and heterogeneous disease with a high mortality rate. Despite advancements in treatment, the prognosis for PC patients remains poor, with a high chance of disease recurrence. Biomarkers are crucial for diagnosing cancer, predicting patient prognosis and selecting treatments. ⋯ Furthermore, the infiltration of various immune cells, including B cells, neutrophils, CD8+ T cells, dendritic cells, and macrophages, was positively correlated with KDM1A, KDM5A, and KDM5B expression. Moreover, MetaCore pathway analysis revealed interesting connections between KDM1A and the cell cycle and proliferation, between KDM5A and DNA damage and double-strand break repair through homologous recombination, and between KDM5B and WNT/β-catenin signaling. These findings suggest that KDM1A, KDM5A and KDM5B may serve as promising biomarkers and therapeutic targets for PC, a disease of high importance due to its aggressive nature and urgent need for novel biomarkers to improve diagnosis and treatment.