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1.
Organ Transplantation ; (6): 465-2021.
Artigo em Chinês | WPRIM | ID: wpr-881532

RESUMO

Objective To evaluate the role of multi-disciplinary team (MDT) in improving the diagnosis and treatment of human herpes virus-6B (HHV-6B) encephalitis after liver transplantation. Methods MDT consultation was delivered for one rare case of HHV-6B encephalitis after liver transplantation to establish an effective individualized treatment regime. Results On the 16 d after liver transplantation, the patient developed headache, and suddenly presented with unresponsiveness, unconsciousness, coma complicated with involuntary limb twitching on the 18 d. Blood ammonia level was increased. Brain CT scan showed cerebral ischemic changes. Electroencephalography prompted the epileptic seizure. After MDT consultation, the possibility of nervous system infection after liver transplantation was considered, and medication therapy was given to control the epileptic seizure. Cerebrospinal fluid examination via lumbar puncture hinted increased intracranial pressure. Real-time fluorescent quantitative polymerase chain reaction (RT-qPCR) of the cerebrospinal fluid demonstrated that the patient was tested positive for HHV-6B nucleic acid, which confirmed the diagnosis of HHV-6B encephalitis. The immunosuppressant regime was adjusted, intravenous ganciclovir was given for antiviral treatment, and active interventions were delivered to prevent and treat relevant complications. Epileptic seizure disappeared after 4 d, and neurological symptoms were significantly alleviated after 2 weeks. After 4-week antiviral treatment, the patient was tested negative for virology testing, and the neurological function was restored to normal. Conclusions HHV-6B encephalitis rarely occurs after adult liver transplantation, which is primarily associated with the virus reactivation after use of immunosuppressant. MDT pattern may be employed to deepen the understanding of the patient's condition, formulate more effective individualized treatment regime, and enhance the clinical efficacy and safety.

2.
Chinese Journal of Medical Genetics ; (6): 657-660, 2020.
Artigo em Chinês | WPRIM | ID: wpr-826512

RESUMO

OBJECTIVE@#To explore the genetic basis for a patient with episodic ataxia and pyramidal tract signs.@*METHODS@#The patient was subjected to high-throughput sequencing, Sanger sequencing and analysis of dynamic variant site associated with spinocerebellar ataxias (SCA).@*RESULTS@#The patient was an adolescent male presenting with episodic ataxia, bilateral knee hyper-reflexia and ankle clonus. By genetic testing, he was found to harbor a c.1159-1162dupAAGT variant of PDHA1 gene. The same variant was not found in his parents and elder sister. No abnormalities were found by SCA dynamic variant screening. The patient was diagnosed as pyruvate dehydrogenase E1alpha deficiency due to variant of the PDHA1 gene.@*CONCLUSION@#The de novo c.1159-1162dupAAGT variant of the PDHA1 gene probably underlies the disease in the proband. Patients with pyruvate dehydrogenase E1alpha deficiency have complex phenotypes and very few have pyramidal tract involvement, which may be attributed to abnormal early neuronal development.

3.
Chinese Journal of Geriatric Heart Brain and Vessel Diseases ; (12): 278-281, 2018.
Artigo em Chinês | WPRIM | ID: wpr-709112

RESUMO

Objective To study the effect of high rosuvastatin dose on outcome in patients with large artery atherosclerotic stroke (LAAS).Methods Eighty-two LAAS patients were randomly divided into high rosuvastatin dose group (n=39) and routine rosuvastatin dose group (n=43).Their serum blood lipid level and inflammatory indexes were measured and their clinical outcome was assessed.Results No significant difference was found in mortality,recurrence and hemorrhagic transformation between the two groups (P>0.05).The rate of improved outcome was significantly higher in high rosuvastatin dose group than in routine rosuvastatin dose group (84.62% vs 65.12%,P=0.04).The serum hs-CRP level was significantly lower in routine rosuvastatin dose group and high rosuvastatin dose group after treatment than before treatment (0.56±0.60 mg/L vs 0.70±0.68 mg/L,P=0.01;0.22±0.29 mg/L vs 0.69±0.58mg/L,P=0.00) and in high rosuvastatin dose group than in routine rosuvastatin dose group after treatment than before treatment (0.22±0.29 mg/L vs 0.56±0.60 mg/L,P=0.00).The rate of LDL C<1.8 mmol/L and non HDL-C<2.6 mmol/L was significantly higher in high rosuvastatin dose group than in rosuvastatin dose group after treatment (69.23% vs 46.51%,P=0.04;66.67% vs 41.86%,P=0.03).No significant adverse reactions occurred in both groups.Conclusion High rosuvastatin dose can effectively increase the blood lipid level,reduce the serum hs-CRP level,and improve the clinical outcome in LAAS patients.

4.
International Journal of Cerebrovascular Diseases ; (12): 536-540, 2017.
Artigo em Chinês | WPRIM | ID: wpr-611542

RESUMO

β2-Microglobulin is a small molecule protein, consisting of a polypeptide chain.Previous studies have confirmed that serum β2-microglobulin is a biomarker that reflects early renal function injury, and renal function injury is closely correlated with ischemic stroke.Studies in recent years have shown that the level of serum β2-microglobulin increases significantly in patients with ischemic stroke.Thus, it can be used as a biomarker for the risk of ischemic stroke.

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