The KCNQ potassium channels play a crucial role in modulating neural excitability, and their dysfunction is closely associated with epileptic disorders. While variants in KCNQ2 have been extensively studied, KCNQ3-related disorders have rarely been reported. With advances in next-generation sequencing technologies, an increasing number of cases of KCNQ3-related disorders have been identified. However, the correlation between genotype and phenotype remains poorly understood. In this study, we established a variant library consisting of 24 missense mutations in KCNQ3 and introduced these mutations into three different template types: KCNQ3, KCNQ3-A315T (Q3*), and KCNQ3-KCNQ2 tandem (Q3-Q2). We then analyzed the effects of these mutations on the KCNQ3 channel function using patch-clamp recording. The most informative parameter across all three backgrounds was the current density of the mutant channels. The current density patterns in the Q3* and Q3-Q2 backgrounds were similar, with most mutations resulting in an almost complete loss of function (LOF), they were concentrated in the pore-forming domain of KCNQ3. In contrast, mutations in the voltage-sensing domain or C-terminus did not show significant differences from the wild-type channel. Interestingly, these LOF mutations were typically associated with self-limited familial neonatal epilepsy, while neurodevelopmental disorders (NDD) were more closely associated with mutations that did not significantly differ from the wild-type. V_1/2, another important parameter of the electrophysiological properties, could not be accurately determined in the majority of KCNQ3 mutations due to its nearly complete LOF in the Q3* and Q3-Q2 backgrounds. Intriguingly, the V_1/2 of functional mutations were primarily leftward shifted, indicating a gain-of-function (GOF) effect, which was typically associated with NDD. In addition to previously reported mutations, we identified G553R as a novel GOF mutation. In the co-transfection background, parameters such as V_1/2 could be determined, but the dysfunctional effects of these mutations were mitigated by the co-expression of wild-type KCNQ3 and KCNQ2 subunits, resulting in no significant differences between most mutations and the wild-type channel. Furthermore, we applied KCNQ modulators to reverse the electrophysiological abnormalities caused by KCNQ3 variants. The LOF mutations were reversed by the application of Pynegabine (HN37), a KCNQ opener, while the GOF mutation responded well to Amitriptyline (AMI), a KCNQ inhibitor. These findings provide essential insights into the pathogenic mechanisms underlying KCNQ3-related disorders and may inform clinical decision-making.
KCNQ3 Potassium Channel/genetics* ; Humans ; Mutation, Missense/genetics* ; KCNQ2 Potassium Channel/genetics* ; Patch-Clamp Techniques ; HEK293 Cells ; Animals ; Phenylenediamines/pharmacology* ; Carbamates

Artificial intelligence (AI) is an emerging science and technology that studies and develops theories, methods, technologies, and application systems for simulating and expanding human intelligence. AI has made great breakthroughs in the field of intelligent medicine, and has shown great potential in the diagnosis and treatment of diabetic retinopathy (DR), retinopathy of prematurity, and other fundus diseases. A number of clinical trials on the application of AI technologies to DR screening have been carried out in the domestic and overseas, which not only have a high accuracy rate, but also save doctors' reading time and reduce the burden of society, medical work and patients. However, due to the lack of evaluation system for DR intelligent diagnosis technology, the accuracy of AI system still lacks of big data verification. Secondly, most of the color fundus photographs are taken in the posterior 45°, which only show the most vulnerable areas, making some lesions undetectable. In addition, the current DR screening system has not yet been applied to the clinic, most of which are in the stage of prospective research and trials. There are still many obstacles from the environment to the hospital or the clinic. Doctors cannot use real patient data to evaluate the AI system, so it is not popular in clinical practice. In the future, DR screening algorithms and diagnostic models can be further improved and established to make DR AI screening more accurate.

Noval coronavirus-infected pneumonia is an acute respiratory infectious diease caused by an noval coronavirus, and it is highly contagious. The first confirmed coronavirus-infected pneumonia in Guizhou was admitted to the department of Critical Care Medicine, Affiliated Hospital of Guizhou Medical University. After has been given isolation, anti-viral therapy, oxygen therapy, maintaining internal environment stability, organ functions protection and psychological comfort for 8 days, the patient successfully recovered from the disease. It is suggested that early recognition, early isolation, timely antiviral treatment, organ function protection and psychological intervention are effective methods for patient with noval coronavirus-infected pneumonia.

Objective To observe the efficacy of continuous renal replacement therapy (CRRT) combined with hemoperfusion (HP) on patients with severe acute aconitine poisoning. Methods One patient suffered from severe acute aconitine poisoning was admitted into the Department of Critical Care Medicine of Affiliated Hospital of Guizhou Medical University, besides the gastric lavage and multi-organ supportive conventional therapies, CRRT combined with HP was given to the patient and his clinical data of life vital signs and other parameters were observed. Results After the patient underwent 4 episodes of CRRT (102 hours in total) and HP (8 hours in total) based on the conventional treatment, 4 days later, the disease situations were gradually stabilized, all of their parameters became gradually normal, the patient successfully weaned off from mechanical ventilation, the via mouth tracheal intubation was pulled out and the patient was transferred out of department of critical care medicine. Conclusion In the patient with acute aconitine poisoning, it is necessary to use CRRT combined with HP as early as possible, that can effectively eliminate the toxicant in the body and quickly correct the electrolytic and acid-base disturbances, so as the above combine method can improve the patient's prognosis and elevate the successful rescue rate.

Objective To explore the association between the students’emotional quotient (EQ),personality trait and interpersonal trust, and to clarify the potential function of interpersonal trust of higher students. Methods Interpersonal Trust Scale, Emotional Quotient Table and Eysenck Personality Questionnaire (EPQ) were used to investigate 364 students from Guangxi University and Guangxi Teachers Education University.SPSS 18.0 software was used for one-way ANOVA variance analysis,Pearson product-moment correlation analysis and stepwise Multiple Linear regression analysis.Results The differences in interpersonal trust,EQ and personality trait of EPQ had statistical significance between males and females,and the males’scores were higher than those of females (P <0.05,P < 0.01);the differencs in Lie of EPQ between nations had statistical significance and the scores of Dong, Hui and Tujia ethnic minority were higher than those of other nationalities (P < 0.01 ); the difference in personality trait of EPQ between educational background had statistical significances, and the undergraduates’scores were higher than those of master students (P <0.05).EQ was positively correlated with EPQ-E and EPQ-L (r=0.274,P <0.01;r =0.145,P <0.01),and was negatively correlated with EPQ-N and EPQ-P (r=-0.422,P <0.01;r = -0.202,P <0.01);interpersonal trust was negatively correlated with EQ and EPQ-E (r=-0.273,P <0.01;r=-0.169,P <0.01);special trust was negatively correlated with EQ and EPQ-E (r=-0.252,P <0.01;r = - 0.151,P < 0.01);interpersonal trust and general trust were negatively correlated with EPQ-P (r =0.313,P <0.01;r =0.338,P <0.01),and they were positively correlated with EPQ-L (r=-0.201,P <0.01;r = -0.217,P <0.01).Conclusion The students’EQ,personality trait are related to interpersonal trust of the students in Guangxi universities,and they have important prediction effects. Improving students’ EQ and interpersonal trust plays a positive role, whereas, the possible negative effects accompanying should never be neglected.

Objective To study the expression of forkhead box 2(FOXC2)and delta-like liGand 4 (DLL4)in invasive ductal carcinoma(IDC)of breast and the clinical siGnificance. Methods The expression of FOXC2 and DLL4 in l22 cases of IDC(Grade Ⅰ33,Grade Ⅱ40,GradeⅢ 49)were observed by tissue chip and immunohistochemistry. The relationship of the expression with clinicopatholoGical characteristics and between FOXC2 and DLL4 were statistically analyzed. PCR experiment was performed in normal breast tissue,ductal carcinoma in situ(DCIS)IDC Grade Ⅰ,Grade Ⅱ and Grade Ⅲ(l0 cases respectively). Results The positive rate of FOXC2 and DLL4 in IDC was 77. 87% and 74. 59% respectively. A hiGher expression was observed in GradeⅢ than in GradeⅠand Ⅱ( P<0. 05 ). The expression of FOXC2 was related to the neGative expression of ER. The expression of DLL4 was related to the tumour size,clinical staGe and lymph node metastasis( P<0. 05). The RCR of FOXC2 and DLL4 were Gradually increased in normal breast tissue,DCIS,IDC GradeⅠ, Grade Ⅱ and Grade Ⅲ(P<0. 05). Moreover the expression of FOXC2 was related to the expression of DLL4(r=0. 233,P=0. 0l0). Conclusion FOXC2 and DLL4 miGht toGether have influence on the proGression and outcome of breast carcinoma,and could be important markers of proGnosis. DLL4 miGht be reGulated by variety of factors includinG FOXC2 at the same time.

目的了解中年男性晚期肿瘤患者家属的心理状态及影响因素。方法对50例中年男性晚期肿瘤患者的100名直系家属进行问卷调查。结果中年男性晚期肿瘤患者家属的焦虑自评量表（SAS）及抑郁自评量表（SDS）评分明显高于国内常模（P<0.01），且父母与配偶得分明显高于子女与兄弟姐妹（P<0.01），其影响因素主要有：患者的病痛、家庭人员照顾、家庭经济等。结论护士在照顾中年男性晚期肿瘤患者的同时，应充分关心其直系家属，尤其是其配偶与父母的心理。

Objective To explore the effect of early swallowing function training in the prevention of stroke-associated pneumonia(SAP). Methods 78 patients with stroke and swallow dysfunction were divided into training group (n=39) and control group (n=39). All patientswere given routine nursing care, while the training group received early swallowing function training additionally. Clinical data of thetwo groups were compared. Results The incidence of SAP in the training group (25.6%) was lower than the control group (46.2%) (χ2=3.57,P<0.05)。Conclusion Early swallowing function training is effective to prevent stroke-associated pneumonia.

Objective To discuss the treatment of dopamine extravasation-induced injury by lidocaine combining dexamethasone. Methods Animal models of dopamine extravasation-induced injury were made using 24 limbs of 6 white mice. These models were divided into 4 groups and given different treatments. Group A was treated with lidocaine combining dexamethasone, group B with lidocaine, group C with normal saline and group D was set as control. The treatment effect was observed. Results The disappearance time of edema in group A was the shortest among the 4 groups and was significantly shorter than that of group C,P＜0.05.Moreover, the pathological changes degree of local tissues in group A were also obviously lower than those of group B,C and D. Conclusion Measures must be taken timely to cope with dopamine extravasation-induced injury. Treatment with lidocaine combining dexamethasone proved to be a prompt, simple and safe method.

Summary: The expression of CH50 polypoptide in bladder cancer cell line BIU-87 and the effects on the invasion ability of BIU-87 were investigated. The eukaryotic expressing vector pCH510 of polypeptide CH50 was introduced into BIU-87 cells by gene transfection in vitro. The expression of CH50 polypeptide was detected by using immunohistochemical S-P method. The expression of the transfected gene was identified by RT-PCR. Cell invasion assay kit was applied to detect the effect of CH50 polypeptide on the invasion ability of BIU-87. The results showed that the BIU-87 cells transfected with pCH510 could express the CH50 polypeptide, while in the control group, no CH50 polypeptide was detectable. In the transfection group, the invasion ability of BIU-87 in vitro was lower than in control group (P<0.05). It was concluded that CH50 polypeptide was successfully expressed in BIU-87 cells by gene transfection, by which the in vitro invasion ability of BIU-87 was inhibited.