Medicine
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Gray platelet syndrome (GPS) is a rare disease caused by homozygosity and compound heterozygosity for autosomal mutations on the NBEAL2 gene, which is characterized by a deficiency of platelet α-granules, bleeding symptoms. However, in this study, we report 2 NBEAL2 gene mutations in an easy bruising family without gray platelet and bleeding. ⋯ These 2 NBEAL2 gene mutations (p.Thr365fs and p.Ala310Thr mutations) do not affect the degranulation of platelets.
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DMG is a highly invasive and lethal type of brain tumor. As these tumors progress, they often compromise the CSF circulation, leading to hydrocephalus. Ventriculoperitoneal shunt (VPS) is commonly employed to manage hydrocephalus; however, the complication of VPS-induced ascites, particularly in the presence of tumor cells, is a significant concern that merits attention. ⋯ These cases underscore the importance of continuous monitoring of both the CSF and ascitic fluid in patients with gliomas. Regular assessments of biochemical composition, cytology, and other diagnostic tests are crucial for early detection of disease progression. This proactive approach facilitates timely clinical judgment and intervention, potentially improving patient outcomes.
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To investigate the causal relationship between rheumatoid arthritis (RA) and interstitial lung disease (ILD) in the East Asian population, we utilized Mendelian randomization (MR). Publicly available summarized data from genome-wide association studies on RA (4199 cases and 208,254 controls), and the data on ILD (1046 cases and 176,974 controls) were obtained from BioBank Japan. Eligible single nucleotide polymorphisms from East Asian populations were obtained from genome-wide association studies as instrumental variables, and 11 RA-related single nucleotide polymorphisms (P < 5 × 10-8) were selected as instrumental variables. ⋯ The reliability evaluation could adopt the fixed-effect model, and the absolute value of the MR-Egger regression intercept was 0.021, P > 0.05, and P value of Global Test in MR-PRESSO was 0.573. The test results of the leave-one-out showed that the results are robust, and the funnel plot indicated that the instrumental variables were not affected by potential factors. In conclusion, this study demonstrates that RA is a risk factor for ILD in the East Asian population.
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To report a unique case of corneal ulcer perforation associated with a severe manifestation of Graves' ophthalmopathy that was treated with unilateral transnasal endoscopic orbital inner wall decompression combined with penetrating keratoplasty. ⋯ Transnasal endoscopic orbital inner wall decompression combined with penetrating keratoplasty is an effective method for treating corneal ulcer perforation caused by Graves' ophthalmopathy. This method can not only greatly improve the appearance but also save the patient's eyeball and improve visual function.
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Case Reports
Contrast-enhanced computed tomography assisted diagnosis of bleeding caused by colonic angiodysplasia: A case report.
Angiodysplasia (AD) in the gastrointestinal tract is a degenerative vascular condition characterized by vascular dilation, tortuosity, and arteriovenous connections within the mucosal and submucosal layers. AD is a significant cause of lower gastrointestinal bleeding in the elderly, often presenting as chronic, intermittent hemorrhage. The research challenge lies in the potential for multiple and minute AD lesions to be missed during endoscopy, which may lead to post-hemostatic rebleeding. ⋯ We highlight that CECT for diagnosing AD-related bleeding offers higher safety and convenience, potentially superior to digital subtraction angiography, particularly in critically ill elderly patients.