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.

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 .

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.

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.

Objective: To reveal the clinical and genetic features of neonatal/infantile epileptic disorders caused by KCNQ2 mutations and to provide a clue for the treatment and prognosis evaluation. Methods: Twenty-two patients were collected in the Department of Pediatrics, Peking University First Hospital from April 2007 to July 2016.The phenotype-genotype analysis was conducted of the neonatal/infantile epileptic patients in whom a KCNQ2 mutation was identified by the targeted next generation sequencing. Results: Twenty-two de novo KCNQ2 missense mutations from 22 patients with neonatal/infantile epileptic disorders were found.These patients had an onset of epilepsy in early infancy (median age: 2 days). The seizure type of the first onset was mainly focal seizure.Atypical absence epilepsy, a novel phenotype of KCNQ2 mutation-induced epilepsies was found.The mortality of these patients was high, as 5 patients of the 22 patients died in the follow-up period, 4 of which might result from sudden unexpected death in epilepsy.In the 22 patients, 8 patients with anti-epileptic monotherapy became seizure-free.Of the 8 patients with a monotherapy, 3 patients were treated with valproic acid and no clinical onset was observed. Conclusions This study expands the phenotype of KCNQ2-related epileptic disorders.These patients have high mortality.Valproate acid is the potentially effective monotherapy for these patients.

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.

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.

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 (V_GTV) 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 V_GTV (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.

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.