Medicine
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Case Reports
Antithrombin deficiency caused by SERPINC1 gene mutation in white matter lesions: A case report.
White matter lesions (WMLs) are structural changes in the brain that manifest as demyelination in the central nervous system pathologically. Vasogenic WMLs are the most prevalent type, primarily associated with advanced age and cerebrovascular risk factors. Conversely, immunogenic WMLs, typified by multiple sclerosis (MS), are more frequently observed in younger patients. It is crucial to distinguish between these 2 etiologies. Furthermore, in cases where multiple individuals exhibit WMLs within 1 family, genetic testing may offer a significant diagnostic perspective. ⋯ This case introduces a novel perspective on the etiology of cerebral WMLs, suggesting that hereditary antithrombin deficiency (ATD) could contribute to altered blood composition and may serve as an underlying cause in certain individuals with asymptomatic WMLs.
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Case Reports
Fragment excision and triceps V-Y advanced reattachment using suture anchor for olecranon nonunion: A case report.
The nonunion of olecranon fractures is uncommon in simple fractures, and it is challenging to treat surgically due to the disruption of the anatomy of the elbow joint. There is limited literature on surgical options, and several factors to determine the treatment, including the amount and quality of bone stock, age, and degree of articular damage. ⋯ This technique is useful in patients who cannot undergo other surgical options due to insufficient bone quality and elbow function, and it can lead to satisfactory outcomes with an acceptable range of motion and pain relief.
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The demand for Janus Kinase-2 (JAK2) testing has been disproportionate to the low yield of positive results, which highlights the need for more discerning test strategies. The aim of this study is to introduce an artificial intelligence application as a more rational approach for testing JAK2 mutations in cases of erythrocytosis. Test results were sourced from samples sent to a tertiary hospital's genetic laboratory between 2017 and 2023, meeting 2016 World Health Organization criteria for JAK2V617F mutation testing. ⋯ Gradient boosting (GB) model also showed high scores. When compared with existing algorithms, the RF and GB models displayed superior performance. The RF and GB models outperformed other methods in accurately identifying and classifying erythrocytosis cases, offering potential reductions in unnecessary testing and costs.
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Case Reports
EBER-negative inflammatory pseudotumor-like follicular dendritic cell sarcoma of liver: A case report.
Inflammatory pseudotumor-like follicular dendritic cell sarcoma (IPT-like FDCS) of the liver is rare. It was previously believed that Epstein-Barr virus (EBV) positivity was a necessary criterion for pathological diagnosis. However, we found that there were also cases of EBV negativity. Therefore, clinicians and pathologists are reminded that EBV positivity is not a necessary condition for diagnosis. ⋯ IPT-like FDCS is a rare tumor that lacks definitive criteria, and its diagnosis mainly relies on pathological findings. Previously, it was believed that being EBV-positive was an important condition for diagnosis. Primary IPT-like FDCS in the liver is even rarer, and the patient in this case tested negative for EBV. It may be necessary for pathologists to consider the role of EBV in the diagnosis of IPT-like FDCS.
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Cervical spondylotic radiculopathy is currently one of the common orthopedic diseases, mainly characterized by neck pain, stiffness, limited mobility, and related symptoms of nerve root compression, which seriously troubles people's work and life. ⋯ The treatment of cervical spondylotic radiculopathy (Qi stagnation and blood stasis syndrome) with Gao's nape needle and modified Shentong Zhuyu decoction can improve the curative effect of traditional Chinese medicine, improve the related discomfort symptoms (neck tenderness, adverse activity, numbness, etc), improve the neck function, reduce IL-10, IL-6, TNF-α, and other related serum inflammatory factors, and improve hemorheological indicators.