1.Epilepsies associated with KCNQ2 : A spectrum of disorders
Xiaoxuan QU ; Han XIE ; Yuwu JIANG
Journal of Chinese Physician 2017;19(8):1134-1138
Epilepsies associated with KCNQ2 are a spectrum of disorders,and KCNQ2 mutations lead to a variety of phenotypes from the severest to the mildest,from early onset epileptic encephalopathy (EOEE) to benign familial neonatal convulsion (BFNC).The type and the position of KCNQ2 mutations may be associated with phenotypes,and provide a clue for assessing prognosis.KCNQ2 mutations lead to the reduced protein expression,abnormal distribution of potassium channels or decreased currents of potassium channels.It is the potential mechanism that KCNQ2 mutations cause different phenotypes.Recent studies have also found that KCNQ2 mutations may trigger seizures by enhancing potassium channel currents;however it needs further studies to verify.
2.Cytogenetic and clinical analysis of a patient with partial trisomy 5p
Xiaoyan ZHANG ; Rungui XIE ; Shundi WEI ; Xiaoxuan HE ; Yanhui LIU
International Journal of Laboratory Medicine 2015;(12):1678-1679
Objective To further explore the relationship between increasing genetic material and clinical manifestation of partial trisomy 5p .Methods G‐banding karyotypes of peripheral blood lymphocytes in the patient and his parents ,and at the same time to summary the partial trisomy 5p clinical performance .Results patient ,46 ,XX ,der(6)t(5 ;6)(p13;q25) mat ;partial trisomy for 5p13→pter resulting from the balanced translocation of the mother .Mother:46 ,XX ,t(5;6)(p13 ;q25);carrier of a balanced 5/6 translocation .Father :46 ,XY .Conclusion The phenotype of trisomy 5p may be associated with express and function of gene at spe‐cial chromosome region .
4.Research on Temperature of Left and Right Points of Dysmenorrhea Rats with Cold Stagnation Syndrome and Effects of Moxibustion Intervention
Wei ZHANG ; Jiamin YANG ; Mei ZHANG ; Zhenzhen LIU ; Dandan QI ; Qingqing ZHANG ; Li LUO ; Jieping XIE ; Xiaoxuan REN ; Mengwei GUO ; Yafang ZHAO
Chinese Journal of Information on Traditional Chinese Medicine 2016;23(4):68-71
Objective To observe the surface area temperature of dysmenorrhea rats with cold stagnation syndrome; To compare the different effects of Sanyinjiao (SP6) and Guanyuan (RN4).Methods Forty female SD rats were randomized into control group, model group, Sanyinjiao (SP6) group, and Guanyuan (RN4) group, 12 rats in each group. Whole body freezing method combined with estradiol benzoate injection was used to establish models. Sanyinjiao (SP6) group and Guanyuan (RN4) group received moxibustion at corresponding points for 3 times after modeling. Infrared thermal imaging was used to measure the skin temperature at the surface projection area of Sanyinjiao (SP6) and Xuehai (SP10) and Sanyinjiao-Xuehai lines before and after moxibustion.Results Compared with control group, the temperature gap between double sides of Sanyinjiao-Xuehai lines significantly increased in model group 5-30 min after moxibustion (P<0.05). 30 min after moxibustion, the temperature of right Sanyinjiao significantly decreased in other three groups (P<0.01). Compared with model group, the temperature gap between double sides of Sanyinjiao-Xuehai lines significantly decreased after 5-30 min in Sanyinjiao group (P<0.05), while Sanyinjiao-Xuehai lines significantly decreased after 10-30 min in Guanyuan group (P<0.05). Comparison between two moxibustion groups, the influence of Sanyinjiao group to temperature gap between double sides of Sanyinjiao-Xuehai lines was earlier than Guanyuan group (P<0.05).Conclusion Moxbustion can decrease the temperature gap between double sides of Sanyinjiao-Xuehai lines and ease the imbalance. And the influence of moxbustion SP6 to temperature gap between double sides of Sanyinjiao-Xuehai lines is earlier than moxibustion RN4.
5.Correlation between the level of presenilin-associated rhomboid-like protein and the sperm motility, survival rate and deformity rate of sperm in workers exposed to aluminum in Guangxi
Guibin LAN ; Huang LI ; Chengle HUANG ; Dechun XIE ; Shangbing WEI ; Xiaoxuan ZHOU ; Min PAN
International Journal of Laboratory Medicine 2018;39(5):606-609
Objective To investigate the correlation between the level of presenilin-associated rhomboidlike protein (PARL) and the sperm motility,survival rate and deformity rate of sperm in workers exposed to aluminum.Methods A total of 162 male workers exposed to aluminum in a large aluminum enterprise in Guangxi were selected as the exposure group,and the 162 staff members of the service company were selected as the control group by matching the age and length of service.The concentration of aluminum in the working environment and the aluminum content in the blood and urine were determined by graphite furnace atomic absorption spectrometry and high performance liquid chromatography.Enzyme linked immunosorbent assay was used to measure the level of PARL protein in sperm and sperm function was evaluated.Results The average concentrations of aluminum in the batching,electrolysis and casting of aluminum exposure group were (6.72± 1.45),(7.23± 1.50) and (7.35± 1.72)mg/m3,which were significantly higher than those of the control group (F=8.314,P<0.001).The content of aluminum in blood and urine of exposed group were significantly higher than those of control group (P<0.05),while the levels of PARL of exposed group were significantly lower than those of control group (P<0.05).Moreover,the sperm survival rate and sperm motility of exposed group were significantly lower than those of the control group,and the sperm deformity rates of exposed group were significantly higher than those of the control group(P<0.05).Pearson correlation analysis showed that there was a positive correlation of sperm motility,sperm survival rate and protein level of PARL (rsprm motility=0.713,P=0.012;rsperm survival rate =0.628,P=0.008);while the sperm deformity rate and protein level of PARL showed a significant negative correlation (rsperm deformity rate =0.953,P =0.002).Conclusion The sperm function was significantly impaired in aluminum exposed workers,and the changes of sperm motility,survival rate and malformation rate were closely related to the protein level of PARL.
6. Clinical and genetic analysis of Chinese patients with KCNQ2 mutation-induced neonatal/infantile epileptic disorders
Han XIE ; Xiaoxuan QU ; Yuehua ZHANG ; Yujia ZHANG ; Weijing KONG ; Kai GAO ; Xiaoyan LIU ; Ye WU ; Yanling YANG ; Xiru WU ; Yuwu JIANG
Chinese Journal of Applied Clinical Pediatrics 2019;34(12):907-910
Objective:
To reveal the clinical and genetic features of neonatal/infantile epileptic disorders caused by
7.Triple fusion PET/MRI in location of epileptogenic focus in patients with focal cortical dysplasia
Yi JIN ; Chaoling JIN ; Yumin ZHENG ; Tian LIANG ; Sheng XIE ; Xiaoxuan LI ; Dantao PENG ; Pei RONG ; Dongyan WU
Chinese Journal of Neuromedicine 2021;20(9):915-920
Objective:To explore the value of triple fusion positron emission tomography (PET)/MRI in location of epileptogenic focus in patients with focal cortical dysplasia (FCD).Methods:Three patients with refractory partial epilepsy, admitted to our hospital from December 2016 to June 2017, were chosen in our study. The raw MRI and PET images of these patients were processed using Freesurfer and FSL image processing softwares. After extraction and coregistration, precise PET/MRI fusion images were obtained; and the grey-white matter dividing line was highlighted on this fusion image to form triple-fusion images to observe the hypometabolic area and clarify the location.Results:Triple-fusion images of these 3 patients were acquired. In patient 1, a marked decrease in metabolism was noted in the gyrus region delineated by the gray-white matter boundary in the right cingulate gyrus. In patient 2, the area with slightly increased local signal in the right superior frontal gyrus (MRI FLAIR sequence) was the area with reduced metabolism. In patient 3, an area of local decreased metabolism was noted in the right cingulate gyrus. The preoperative evaluation of all 3 patients showed that the above areas were epileptic foci; the patients were followed up for 2 years after surgical resection, no clinical seizures occurred in all patients, and antiepileptic drugs were gradually stopped. All 3 patients were diagnosed as having FCD by postoperative pathology.Conclusion:Triple fusion PET/MRI is a powerful way to assist FCD diagnosis, especially for those FCD cases which are difficult to be diagnosed by other imaging methods, and has a potential clinical application value in epilepsy patients.
8.Application of mixed reality technology in clinical teaching of airway anatomy under bronchoscopy
Ruolan WU ; Runchang LI ; Lin YE ; Xiaoxuan ZHENG ; Fangfang XIE ; Jiayuan SUN
Chinese Journal of Medical Education Research 2022;21(8):1038-1041
Objective:To explore the effect of introducing mixed reality technology into traditional atlas teaching to teach airway anatomy under bronchoscopy.Methods:A total of 30 Batch 2017 fifth-year clinical medicine students from Shanghai Jiao Tong University School of Medicine were randomly divided into control group and test group by RAND function in Excel, with 15 students in each group. The control group was taught with the traditional bronchoscopic atlas teaching, and the test group was combined with mixed reality technology. The two groups had the same class time. After teaching, the teaching effect was evaluated by examination and evaluation questionnaire. SPSS 25.0 software was conducted for t test and Mann-Whitney U test. Results:The average score after teaching of test group was (61.67±20.15), and that of control group was (36.67±13.32), with statistically significant differences ( t=4.01, P<0.001). According to the questionnaire results, the scores of the test group on course understanding, course concentration, participation, mastery and satisfaction were better than those of the control group, and the differences were statistically significant ( P<0.05). Conclusion:Using mixed reality technology to assist the clinical teaching of airway anatomy under bronchoscopy can improve the quality of students' study and enhance their understanding of the teaching content and students' participation passion, achieving better teaching effect.
9.Role of apical sodium-dependent bile acid transporter in hepatobiliary diseases
Xiaoxuan XIE ; Lina DU ; Ziyun GUO ; Yan YANG
Journal of Clinical Hepatology 2024;40(1):199-203
Apical sodium-dependent bile acid transporter (ASBT) is a key transporter responsible for intestinal reabsorption of bile acid and plays an important role in maintaining bile acid and cholesterol homeostasis, and its expression is regulated by various factors including transcription factors, nuclear receptors, and intestinal microflora. The abnormal expression and function of ASBT can lead to disorders in the metabolism of bile acid and cholesterol, causing a variety of hepatobiliary diseases. At present, ASBT has attracted wide attention as a therapeutic target. This article elaborates on the biological characteristics and expression regulation mechanism of ASBT and reviews the role of ASBT in hepatobiliary diseases, in order to provide a new direction for the treatment of related diseases.
10.A preliminary study on stereotactic ablative brachytherapy for lung metastases from cervical cancer
Ying LIU ; Yun ZHOU ; Xiaoxuan XIE ; Hongrong REN ; Na LI ; Hui HUI ; Wei JIANG
Chinese Journal of Radiological Health 2023;32(5):569-572
Objective To preliminarily study the effectiveness and safety of stereotactic ablative brachytherapy (SABT) for lung metastases from cervical cancer. Methods We analyzed the clinical data of 18 patients with cervical cancer with lung metastasis treated with SABT to compare gross tumor volume (VGTV) and squamous cell carcinoma (SCC) antigen before and after SABT. The clinical benefit rate (CBR) and adverse reactions were recorded. Results After SABT treatment, there were significant decreases in VGTV (t=1.708, P<0.05) and the SCC antigen level (t=1.704, P<0.05). CBR reached 94.4%. Adverse reactions of grades 3-4 did not occur in any patient. Fourteen patients had mild complications, including 1 case of bloody sputum and 1 case of a small pneumothorax. Ten cases developed mild radiation-induced lung injury, with grade 2 radiation pneumonitis in 4 cases. The Karnofsky performance status score and needle depth were not associated with the occurrence of adverse reactions, while the radius of GTV and interstitial lung disease were associated with the occurrence of adverse reactions. Conclusion SABT is a safe and effective alternative to the treatment of lung metastases from cervical cancer.