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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Traumatic spinal epidural hematoma (SEH) is a rare clinical condition. Here, we present an extraordinary case of recurrent SEH accompanied by thoracolumbar spine fractures resulting from minor trauma, and provide evidence-based recommendations for the surgical management strategies in this unique scenario. ⋯ SEH is a rare clinical finding that can occur even after a minor trauma in the elderly. It is worth noting that osteoporotic vertebral compression fractures with asymptomatic or stable intraspinal hematoma, is not considered to be a contraindication for percutaneous vertebroplasty. And percutaneous vertebroplasty is a safe and effective treatment for osteoporotic compression fractures with asymptomatic SEH.
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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 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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Angiosarcoma is an aggressive neoplasm derived from endothelial cells that may develop anywhere within the body. Here, we report a case of primary gastric epithelioid angiosarcoma initially misdiagnosed as poorly differentiated adenocarcinoma from the preoperative biopsy. ⋯ Primary gastric epithelioid angiosarcoma is a rare gastric tumor. Given the epithelioid cell features displayed by tumor cells and the high expression of epithelial markers in tumor cells (83%), preoperative diagnosis is difficult and should be differentiated from adenocarcinoma or gastrointestinal stromal tumor.