1.Diagnosis and treatment of tuberous sclerosis complex with TSC2 mosaic mutation and multiple angiomyolipomas:a case report
Hui GE ; Zhaohua CAI ; Ningning LI
Basic & Clinical Medicine 2024;44(10):1357-1362
Objective To evaluate and explore the diagnosis,treatment,and clinical course of tuberous sclerosis complex(TSC)-associated hepatic angiomyolipoma(AML)and renal AML,emphasizing the limitations of genetic diagnostics and the significance of a multidisciplinary approach.Methods Utilizing comprehensive clinical data and multidisciplinary consultations,we thoroughly analyzed multiple genetic test results throughout the disease course.Following the confirmation of diagnosis,appropriate pharmacological treatment was administered,and its efficacy was evaluated.The patient was a 31-year-old male with a 12-year history of multiple atypical AMLs in the liver and kidneys.Multi-system manifestations included angiofibromas on the nose and perioral region,shagreen patches on the buttocks and cortical dysplasia found by head MRI.A history of dental enamel defects had been observing.Over theyears,the primary therapeutic approach has been performed as repeated surgical resections of AMLs.To further delineate the patient's genetic mutation profile and achieve a definitive diagnosis,we conducted a comprehensive genetic analysis.Results Through genetic analysis,a TSC2 c.2353C>T(p.Gln785?)mutation with allele frequencies of 4.04% was identified in peripheral blood and 10.38% in tumor tissue,suggesting poten-tial germline mosaicism originating during embryonic development.The patient was diagnosed with AML associated with TSC.Treatment with the mTOR inhibitor everolimus over one year resulted in a significant reduction in RAML lesions achieving partial remission.Conclusions It is imperative to consider the possibility of TSC in patients with AML.When TSC is diagnosed,meticulous scrutiny of low-frequency germline mutations is essential.mTOR inhibi-tors can be a treatment option for patients with TSC-AML.
2. Clinical effect and safety of 144-week treatment with entecavir capsules in treatment-naïve HBeAg-positive patients with chronic hepatitis B
Dachuan CAI ; Chen PAN ; Weihua YU ; Shuangsuo DANG ; Jia LI ; Shanming WU ; Nan JIANG ; Maorong WANG ; Zhaohua ZHANG ; Feng LIN ; Shaojie XIN ; Yongfeng YANG ; Baoshen SHEN ; Hong REN
Chinese Journal of Hepatology 2017;25(8):597-600
Objective:
To investigate the clinical effect and safety of entecavir capsules in the treatment of treatment-naïve HBeAg-positive patients with chronic hepatitis B (CHB).
Methods:
A total of 158 HBeAg-positive CHB patients were given oral entecavir capsules at a dose of 0.5 mg/time once a day for 144 weeks. Clinical outcome and safety were evaluated at baseline and at 24, 48, 72, 96, 120, and 144 weeks of treatment respectively. The Fisher’s exact test was used for the analysis of categorical data.
Results:
After 144 weeks of treatment, 90.91% of all patients achieved virologic response (< 69 IU/ml), the normalization rate of alanine aminotransferase was 88.18%, the clearance rate of HBeAg was 33.33%, and the seroconversion rate of HBeAg was 24.07%. Of all patients, 2 dropped out due to adverse events and 5 experienced serious adverse reactions.
Conclusion
Entecavir capsules can inhibit viral replication and have good safety in treatment-naïve HBeAg-positive CHB patients.

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