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 explore the significance of proton magnetic resonance spectroscopy(1H- MRS)in patients with amyotrophic lateral sclerosis(ALS).Methods Single-voxel1 H-MRS was carried on the preeentral gyri in 110 patients with ALS and 24 patients with lower motor neuron syndrome (LMNS) compared with 89 healthy controls.The upper motor neuron involvement of the patients was assessed by upper motor neuron(UMN)signs and the reflex scale,and the disease severity was evaluated by the AIJS function rating scale(ALS-FRS)and APPEL ALS rate scale(AARS).Results Compared with the healthy controls(1.62±0.18),the NAA/Cr of patients with ALS(1.40±0.25)remarkably decreased (t= -5.007,P=0.000),however,it did not change in patients with LMNS(1.60±0.17)as compared with that of the controls.The NAA/Cr of patients with ALS was also lower than that of patients with LMNS(t= -2.660,P=0.009).Furthermore,the NAA/Cr of patients with definite ALS was lower than those of patients with probable and possible ALS(definite vs probable:t=-2.626,P=0.010;definite vs possible: t=-2.537,P=0.013).On the other hand,patients with pronounced UMN signs had a lower NAA/Cr ratio than those with probable UMN signs(t=-2.827,P=0.006).In patients with asymmetric clinical presentation,the NAA/Cr ratio was significantly lower in the precentral gyrus contralateral to the clinically predominantly affected side(t=-2.652,P=0.011).The NAA/Cr was correlated with the reflex scale scores,ALS-FRS score,and AARS and its sub-items(P＜0.05). Conclusions 1H-MRS is useful in studying ALS.The marker NAA/Cr of precentral gyrus may reflect the UMN degeneration in ALS,which is related to the disease severity and progression.However,it might not be helpful in the early diagnosis and differential diagnosis of the disease.

Objective To investigate the correlation of serum interleukin 33(IL-33) level and regional cerebral blood flow(rCBF) in white matter lesions with the severity of white matter ischemic lesions(WMILs) in patients with WMILs. Methods A total of 104 patients with WMILs admitted to our hospital from November 2021 to April 2022 were divided into mild group(n=36),moderate group(n=42),and severe group(n=26) according to the Fazekas scale scores. Age,histories of hypertension and diabetes,and data of total cholesterol,triglyceride,high-density lipoprotein cholesterol,low-density lipoprotein cholesterol,homocysteine,glycosylated hemoglobin,serum creatinine,and urea were collected. The serum IL-33 level was measured. The values of rCBF in the centrum semiovale and periventricular area were measured by arterial spin labeling. Multivariate Logistic regression was used to analyze the correlation of serum IL-33 level and rCBF values in the centrum semiovale and periventricular area with the severity of WMILs. Results The age,hypertension,creatinine,and homocysteine in the moderate and severe groups were significantly higher than those in the mild group(P<0.05),and the IL-33 level and rCBF values in the severe group were significantly lower than those in the mild and moderate groups(P<0.01). After adjusting for hypertension,age,and other factors,Logistic regression analysis showed that IL-33 level and rCBF values in the periventricular area and centrum semiovale were protective factors for the increased severity of WMILs[odds ratio(OR)=0.818,95% confidence interval(CI) 0.715-0.935,P=0.003;OR=0.659,95%CI 0.506-0.859,P=0.002;OR=0.817,95%CI 0.692-0.966,P=0.018)]. Spearman rank correlation analysis showed that serum IL-33 level and rCBF values in the periventricular area and centrum semiovale were negatively correlated with the severity of WMILs(r=-0.575,P<0.01;r=-0.607,P<0.01;r=-0.644,P<0.01). Conclusion The IL-33 level and rCBF values in the periventricular area and centrum semiovale may be related to the severity of WMILs.

Background and objective hTe aim of this study is to determine the best reference values of the opti-mal evaluation indexes that identify different disease types. Disease identiifcation was conducted using the YUV quantitative analysis of autolfuorescence bronchoscopy (AFB) images in the target areas. Furthermore, this study discusses the signiifcance of AFB in the diagnosis of the central-type lung cancer. Methods A biopsy was conducted for cases that showed pathologic changes under either autolfuorescence or white-light bronchoscopy. Moreover, MATLAB was used to carry out the quantita-tive analyses of lesion in multi-color spaces from AFB images. hTe cases were divided into different groups according to the pathological diagnosis of normal bronchial mucosa, inlfammation, low-grade dysplasia (LGD), high-grade dysplasia (HGD), and invasive cancer. SPSS 11.5 was used to process the data for statistical analysis. Results hTe Y values were different and statistically different between invasive cancer and LGD (P<0.001) and invasive cancer and inlfammation (P=0.040), respec-tively. hTe U values between invasive cancer and the other groups were statistically different (P<0.050). Similarly, the V values between invasive cancer and LGD and inlfammation and normal bronchial mucosa were different. Lastly, the V values between normal bronchial mucosa and HGD and inlfammation and normal bronchial mucosa were different. Conclusion hTe YUV values in the AFB effectively identiifed benign and malignant diseases and were proven to be effective scientiifc bases for the ac-curate AFB diagnosis of lung cancer.

Objective:To compare the satisfaction and tolerability of patients under local anesthesia with conscious sedation and simple local anesthesia in Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration (EBUS-TBNA) .Methods :Sixty patients undergoing EBUS-TBNA operation were randomly divided into local anesthesia with conscious sedation group (Group A) and simple local anesthesia group (Group B) ,with 30 patients in each group .The satisfaction and tolerability of patients , safety and accuracy of operations were observed by preoperative records ,intraoperative observation ,postoperative question-naires and follow-up .Results :Compared with Group B ,the blood oxygen saturations of patients before ,during and after oper-ation in Group A decreased significantly (P<0 .05) .The mean contractive pressure of patients before and during operation in Group A were significantly lower than that in Group B .However ,there were no significant differences in the satisfaction and tolerability ,the incidence rates of complications of patients and diagnostic accuracy in two groups .Conclusions :The simple lo-cal anesthesia in EBUS-TBNA in Outpatient Department is safe and effective ,with good satisfaction and tolerability .

Sodium-glucose cotransporter 2 inhibitors(SGLT2i)offer numerous benefits for patients with type 2 diabetes.These benefits include lowering blood pressure and glucose levels, regulating blood lipids, improving arteriosclerosis and endothelial function, reducing urinary protein and decreasing uric acid levels.Additionally, SGLT2i has shown positive outcomes in reducing the risk of kidney failure and cardiovascular adverse events in non-diabetic patients.Recent studies have also discovered that SGLT2i has anti-aging effects, which can potentially delay aging and improve age-related diseases.This article provides a comprehensive review of the potential mechanisms of SGLT2i in anti-aging, offering valuable insights for anti-aging strategies and the prevention of aging-related diseases.

This article provides an overview of metaverse medicine and summarizes the challenges faced by cancer patients, the applications and effects of metaverse medicine in this population, and the limitations and difficulties in clinical practice. These challenges include legal and ethical restrictions, as well as the need for further validation of clinical acceptability and feasibility. Researchers are encouraged to conduct extensive studies to refine the legal and regulatory frameworks, enhance the safety and adoption of metaverse medicine, and facilitate its localized development in cancer care.

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.

Brain edema belongs to the category of "stroke" and "true headache", while Traditional Chinese Medicine mostly understands its core disease mechanisms from the perspectives of stasis, deficiency, and heat, and mostly treats the disease by using warming yang to induce diuresis and eliminating stasis to remove water. Wuling Powder has been lauded as the "first party to typhoid and relieving diuresis", which is used to cure clearing damp and promoting diuresis and warming yang and transforming qi, and has been clinically used in the treatment of brain edema caused by various causes such as head trauma, intracerebral hemorrhage, cerebral infarction, and intracranial space occupying, all with remarkable efficacy. Wuling Powder improves cellular energy supply, scavenges excess oxygen radicals and calcium ions in brain tissue, and reduces the damage to brain tissue caused by vascular inflammatory factors and regulates aquaporins and vascular endothelial growth factor, thereby achieving therapeutic effects.

Objective To explore the correlation between the expression of long non-coding RNA(lncRNA)brain ischemia-related factor(BIRF)and focally amplified lncRNA on chromosome 1(lncRNA FAL1)in serum and the degree of white matter lesions(WML)in patients with cerebral small vessel disease(CSVD).Methods From June 2021 to June 2023,102 CSVD patients admitted to Affiliated Hospital of Chengde Medical University were collected,and these patients were grouped into WML group(n=72)and non WML group(n=30)based on WML diagnostic criteria.According to the Fazekas score,the WML group was further grouped into mild WML group(n=24),moderate WML group(n=36)and severe WML group(n=12).Real-time fluorescence quantitative polymerase chain reaction(qRT-PCR)was applied to detect the levels of lncRNA BIRF and lncRNA FAL1 in serum.Pearson correlation was applied to analyze the correlation between serum lncRNA BIRF and lncRNA FAL1 levels.Receiver operating characteristic(ROC)curve was applied to analyze the diagnostic value of serum lncRNA BIRF and lncRNA FAL1 levels for severe WML in CSVD patients.Results The age(70.50±5.86 years),history of hypertension(Yes/No,43/29),history of diabetes(Yes/No,45/27),IL-33(68.35±6.80 pg/ml),IL-18(97.78±9.65 ng/L),ubiquitin carboxyl terminal hydrolase L1(UCH-L1)(0.29±0.10 μg/L)and lncRNA BIRF level(2.45±0.30)of patients in the WML group were higher than those in the non WML group(67.10±5.76 years,11/19,9/21,62.48±6.13 pg/ml,92.56±9.37 ng/L,0.24±0.06 μg/L,1.02±0.11),while the expression of serum lncRNA FAL1(0.52±0.10)was lower than that in the non WML group(1.04±0.15),with significant differences(t=2.683,4.518,8.978,4.085,2.510,2.550,25.346,20.500,all P<0.05).The serum lncRNA BIRF levels of CSVD patients in the mild,moderate and severe WML groups(2.23±0.23,2.47±0.31,2.82±0.42)were increased sequentially,while the expression of serum lncRNA FAL1(0.60±0.15,0.51±0.09,0.40±0.04)was decreased sequentially,with significant differences(F=14.913,13.899,all P<0.05).Pearson correlation analysis,the serum levels of lncRNA BIRF and lncRNA FAL1 in patients with WML were negatively correlated(r=-0.603,P<0.001),serum lncRNA BIRF was positively correlated with Fazekas score in WML patients(r=0.483,P<0.001),but serum lncRNA FAL1 was negatively correlated with Fazekas score(r=-0.507,P<0.001).The AUCs of serum lncRNA BIRF and lncRNA FAL1 levels alone and both combination for predicting severe WML in CSVD patients were 0.756(0.641～0.850),0.839(0.733～0.915)and 0.892(0.796～0.953),respectively,and the combination of the two was superior to the detection of serum lncRNA BIRF alone(Z=2.111,P=0.035).Conclusion The serum lncRNA BIRF level is increased and lncRNA FAL1 is reduced in patients with CSVD and WML,and both are related to the degree of WML in CSVD patients.