1.Clinical characteristics, diagnosis and treatment of pure paroxysmal kinesigenic dyskinesia and complicated type with epilepsy
Wensi HAO ; Jiaqi HAN ; Rui MA ; Xiating ZHANG ; Lehong GAO ; Hua WEI ; Yicong LIN ; Jia CHEN ; Yuping WANG
Chinese Journal of Neurology 2024;57(9):951-958
Objective:To summarize the clinical features, electroencephalogram (EEG) and magnetoencephalogram (MEG) of patients with pure paroxysmal kinesigenic dyskinesia (PKD) and PKD with epilepsy, so as to better distinguish them and guide the treatments.Methods:The clinical data of 200 patients diagnosed with PKD in the Outpatient Department of Xuanwu Hospital, Capital Medical University from 2000 to 2023 were analyzed retrospectively. The patients were divided into 2 groups: pure PKD (174 cases) and PKD with epilepsy (26 cases) according to whether accompanied by epilepsy. The differences in clinical features, drug therapy, EEG and MEG were compared between the 2 groups.Results:The clinical features of the 2 groups were essentially similar, and the proportion of PKD dyskinesia induced by emotional stress in the pure PKD group (54/174, 31.03%) was higher than that in the PKD with epilepsy group (2/26, 7.69%; χ 2=5.010, P=0.025). In terms of pharmacological response, carbamazepine was the most commonly used medication in both groups, but patients with PKD with epilepsy may need a higher therapeutic dosages (0.2-0.4 g/d, and gradually increased to 0.8 g/d) to effectively manage both dyskinesia and seizures. Regarding the EEG and MEG, the proportion of EEG abnormalities was higher in PKD patients with epilepsy, mainly manifested as focal spikes [1/70(1.43%) vs 9/21(42.86%), χ 2=24.268, P<0.001], together with aberrant MEG discharge (4/18 vs 3/5, χ 2=1.155, P=0.282). The MEG dipoles were mainly distributed in the brain regions close to the frontal lobe and central region. Conclusions:The clinical manifestations of motor symptoms of pure PKD and PKD with epilepsy are similar, and carbamazepine remains the most effective treatment. PKD patients with epilepsy have a higher proportion of abnormal EEG, mainly manifested as focal spikes, and are more likely to show abnormal discharge of MEG, which could be used to distinguish them.
2.Efficacy observation of anaplastic lymphoma kinase-tyrosine kinase inhibitors in treatment of inflammatory myofibroblastic tumor
Jiamei CHEN ; Bo LUO ; Xixi LUO ; Qiong WANG ; Wei SHI ; Gaoke CAI ; Wensi ZHAO ; Hao CHENG ; Yongshun CHEN
Cancer Research and Clinic 2021;33(8):585-590
Objective:To investigate the efficacy of anaplastic lymphoma kinase-tyrosine kinase inhibitors (ALK-TKI) in treatment of inflammatory myofibroblastic tumor (IMT).Methods:The clinicopathological data of one recurrent abdominal IMT patient in Renmin Hospital of Wuhan University in 2018 were retrospectively analyzed. The clinicopathological and molecular characteristics, ALK-TKI treatment efficacy and prognosis of 41 patients with IMT reported in the literature from January 2010 to August 2020 were systematically reviewed.Results:This patient with abdominal IMT in Renmin Hospital of Wuhan University was a 27-year-old female who relapsed 2 months after surgery. Chemotherapy combined with bevacizumab was ineffective. After oral administration of crizotinib, the condition resolved after 1 month, and complete remission (CR) was achieved after 29 months. The median age of onset of 41 IMT cases reported in the literature was 22 years old (0-61 years old), of which 32 cases (78.0%) had multiple organ involvement, all of which had recurrence or metastasis. There were 38 cases of ALK mutation and 3 cases of TFG-ROS1 fusion gene-positive. Thirty-four patients treated with crizotinib in the first-line treatment of ALK-TKI, and the median resistance time of crizotinib was 8 months (2-48 months). The total clinical benefit rate of ALK-TKI was 85.3% (29/34), and 20 patients achieved CR. The median time for the first CR was 11 months (4-36 months), and the median duration time of medication for CR patients was 19.5 months (2-60 months). The median progression-free survival (PFS) time of 24 patients who underwent surgery and/or chemotherapy and radiotherapy was 4 months (1-45 months); after progression, ALK-TKI treatment was performed, and the median PFS time was 14 months (3-62 months).Conclusions:IMT is a true neoplasm with characteristics of recurrence and metastasis. Reasonable combination of ALK-TKI with surgery, radiotherapy and chemotherapy can improve the prognosis of IMT patients.
3. Isolation and identification of the first D8 genotype measles virus in Liaoning province
Yan WANG ; Shuang HAO ; Wensi WANG ; Yinan HAN ; Xing FANG ; Wenqing YAO
Chinese Journal of Experimental and Clinical Virology 2018;32(5):484-487
Objective:
To analyze the gene characterization on the first imported D8 genotype measles virus in Liaoning province.
Methods:
In this study, Vero/Slam cells were used to isolate measles viruses from throat swabs. Fragments of the H gene (1854 nucleotides) and N gene (450 nucleotides) were amplified by reverse transcription-polymerase chain reaction (RT-PCR) and the PCR products were sequenced and analyzed.
Results:
The measles virus isolates and World Health Organization (WHO) D8 genotype reference strain (MVi/Manchester.GBR/30.94) belonged to the same branch in the genetic relationship tree. The nucleotide homology of the N and H gene was 98.9%. Phylogenetic trees were constructed with reference strains of the genotype D8 measles virus of China downloaded from GenBank. The result showed that the nucleotide similarities between the measles virus isolated in this study and the D8 genotype measles virus prevalent in Hong Kong from 2012 to 2016 and MVi/LosPatios.COL/11.18/D8 in Columbia was 100%.
Conclusions
It is the first time to do surveillance for the D8 genotype measles virus since measles virus surveillance was carried out. It was of great significance to accumulate the bases of measles virus molecular epidemiology in Liaoning province, and helpful to analyze and trace the transmission of measles virus in the whole country and the world.
4. Genetic characterization analysis of 2B genotype rubella virus strains in Liaoning province
Yan WANG ; Shuang HAO ; Wensi WANG ; Yinan HAN ; Zhi ZHANG ; Xing FANG ; Wenqing YAO
Chinese Journal of Experimental and Clinical Virology 2019;33(4):354-357
Objective:
To analyze the genetic characterization of 2B genotype rubella virus strains first isolated in Liaoning province.
Methods:
Vero/Slam cells were used to isolate rubella viruses from throat swabs. Fragments of the E1 gene (739 nucleotides) were amplified by reverse transcription-polymerase chain reaction (RT-PCR) and the PCR products were sequenced and analyzed. The phylogenetic trees were constructed with rubella 2B genotypes reference strains.
Results:
RVi/Liaoning.CHN/13.18/1[2B] was isolateded from the case which had a history of international travel and probably imported from abroad. RVi/Liaoning.CHN/13.18/1[2B] was in the same 1ineage with RVs/Edinburgh.GBR/6.12[2B] and RVs/Kawasaki.JPN/17.11/1[2B], but far from the epidemic strains isolated in China in recent years. RVi/Liaoning.CHN/14.18/1[2B] belonged to the same lineage with rubella virus 2B genotype strains isolated in China from 2014 to 2015, and had the highest homology with RVi/Chouzhou.Anhui.CHN/17.15/2[2B] and RVi/Shaoyang.Zhejiang. CHN/13.13[2B].
Conclusions
It was the first time to isolate the 2B genotype rubella virus in Liaoning province and the strain belonged to different 1ineage.