Medicine
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Gitelman syndrome (GS) is a rare hereditary electrolyte disorder caused by mutations in the SLC12A3 gene. There is limited literature on the role of hydrochlorothiazide (HCT) testing and the SLC12A3 single heterozygous mutation in the diagnosis and management of patients with GS. In addition, cases of GS with concomitant kidney stones are rare. ⋯ When unexplained hypokalemia is observed, the HCT test can help with the diagnosis of GS. When genetic testing reveals that a patient only carries only 1 SLC12A3 mutant allele, he requires further genetic evaluation. The patient's combination of kidney stones and cysts could not exclude the diagnosis of GS. Patients with GS and diabetes should be monitored for the development of diabetic ketoacidosis.
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The occurrence of refractory small cell lung cancer (rSCLC) with pancreatic metastasis is a relatively rare clinical condition, which is typically accompanied by a poor prognosis and rapid disease progression. ⋯ This case study highlights the challenges associated with treating rSCLC that has metastasized to the pancreas. Although targeted therapy for metastasis-induced pancreatitis and systemic chemotherapy can alleviate symptoms and enhance patients' quality of life, continuous monitoring and optimization of treatment plans are essential for managing this aggressive disease. The findings emphasize the importance of a multidisciplinary approach in diagnosing and treating such complex cases, underscoring the necessity for personalized treatment strategies to address both the primary cancer and its metastatic complications.
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Observational Study
Analysis of influencing factors for complications of anterior thoracolumbar tuberculosis surgery in adults.
This study analyzes the risk factors related to the complications of anterior thoracolumbar tuberculosis in adults and to provide clinical reference. A total of 98 adult patients with thoracolumbar tuberculosis undergoing anterior surgery in our hospital from February 2020 to December 2023 were selected, and the clinical data and postoperative complications were collected. The clinical characteristics were analyzed, and the risk factors related to surgical complications were analyzed by univariate analysis and multi-factor logistic regression model. ⋯ Multivariate Logistic regression analysis showed that age over 60 years old, preoperative Hb < 100 g/L, blood loss ≥ 800 mL, bone graft fusion method were independent risk factors for anterior postoperative complications of thoracolumbar tuberculosis (P < .05). The independent risk factors for surgical complications of anterior thoracolumbar tuberculosis were age over 60 years old, preoperative Hb < 100 g/L, blood loss ≥ 800 mL, titanium cage by bone graft fusion. Controlling these variable factors before operation can reduce the incidence of postoperative complications.
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The presence of specific genetic mutations in patients with glioblastoma multiforme (GBM) is associated with improved survival outcomes. Disruption of the DNA damage response (DDR) pathway in tumor cells enhances the effectiveness of radiotherapy drugs, while increased mutational burden following tumor cell damage also facilitates the efficacy of immunotherapy. The ATRX gene, located on chromosome X, plays a crucial role in DDR. ⋯ Our model also demonstrated prolonged overall survival in patients carrying ATRX mutations, particularly showing strong predictive value for 3- and 5-year survival rates. Furthermore, additional protective factors such as younger age, female gender, combined IDH mutations, and TP53 mutations were identified. The results underscore the protective role and prognostic significance of ATRX mutations in GBM as a potential therapeutic target and biomarker for patient survival.
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Observational Study
Efficacy analysis of acupuncture and rehabilitation for traumatic spinal cord injury.
This study investigates the role and efficacy of acupuncture combined with rehabilitation therapy during the recovery phase of patients with traumatic spinal cord injury. Patients hospitalized in the acupuncture department of our center between December 1, 2019, and December 1, 2021, were enrolled. ⋯ Acupuncture combined with rehabilitation therapy offers significant clinical benefits for patients with traumatic spinal cord injury. This approach effectively alleviates urinary and bowel dysfunction, accelerates motor function recovery, and improves overall quality of life, making it a valuable treatment option worthy of wider adoption.