Medicine
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Predictive biomarkers can be effective in the identification of the oral leukoplakia with an increased probability of malignant transformation. ⋯ The connection between miRNA expression changes, the increase in glutathione-S-transferase and especially the decrease in superoxide dismutase activities in patients with white lesion potential malignant transformation using the provided statistical analysis was confirmed.
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Dilated cardiomyopathy (DCM) is characterized by ventricular dilation and poor systolic function. Approximately half of idiopathic DCM cases are assigned to genetic causes in familial or apparently sporadic cases, and more than 50 genes are reported to cause DCM. However, genetic basis of most DCM patients still keeps unknown and require further study. ⋯ Bioinformatic analysis predicted p. G218R mutation as deleterious and pathogenic damaging in DCM patients. Our results reported a potential pathogenic mutation associated with DCM, which may provide further insight into genetic contributions of LAMA4 gene mutations to DCM phenotypes.
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Rheumatoid arthritis (RA) is a chronic autoimmune disease that significantly impacts the quality of life of affected individuals. Observational data have consistently pointed towards an associative relationship between cathepsins and the development of RA. Nonetheless, the establishment of a definitive causal nexus between members of the cathepsin family and the pathogenesis of RA remains elusive. ⋯ Forward MR analyses substantiated a significant genetic correlation between the genetically predicted levels of Cathepsin B and the predisposition to RA, elevated levels of Cathepsin B exhibit a significant association with an increased risk of RA (OR = 1.0727, 95% CI: 1.0171-1.1314, P = .0098). In the reverse MR and multivariable MR analyses, no significant causal relationship was identified between cathepsins and RA. The findings suggest that Cathepsin B may serve as a biomarker for RA, thereby offering significant implications for the advancement of diagnostic and therapeutic strategies in the management of RA.
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Case Reports
Primary intracranial neuroendocrine tumor at the sphenoid ridge with metastasis to the spinal cord: A case report.
Neuroendocrine tumors (NETs) originate from neuroendocrine cells and they are depicted with both nerve cells as well as hormone-producing cells. These tumors were initially discovered in extracranial locations and central nervous system involvement is often a result of metastasis. Herein, we present a very rare case of primary intracranial neuroendocrine tumor (PINET) that masqueraded as meningioma at the sphenoid ridge with metastasis to the spinal cord in a patient without a known history of extracranial NET at the time of diagnosis. ⋯ PINET may be capable of metastasizing to spinal cord.
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Case Reports
A case report of fungal endocarditis presenting with low back pain as the initial symptom.
Fungal endocarditis (FE) is a rare form of infective endocarditis. Compared to bacterial endocarditis, FE develops more slowly and insidiously, with nonspecific clinical manifestations, making diagnosis more challenging. Cases presenting with low back pain as the initial symptom are exceedingly rare, leading to a high risk of misdiagnosis or delayed diagnosis. ⋯ In this case, the patient initially presented with low back pain, which, despite the presence of fever and other signs of infection, did not readily suggest a cardiac etiology. This case highlights the importance of not being misled by superficial symptoms and underscores the need for comprehensive and accurate physical examinations and targeted investigations for proper diagnosis.