Objective To investigate the changes of C1q tumor necrosis factor-related protein-12(CTRP12)levels in serum of the pa-tients with acute myocardial infarction(AMI)before and after percutaneous coronary intervention(PCI),and explore its clinical sig-nificance.Methods A total of 50 patients with AMI who underwent emergency PCI and 35 patients with normal coronary angiography results in Danyang People's Hospital from November 2021 to October 2022 were enrolled.The CTRP12 levels in peripheral venous ser-um were compared between the two groups.The levels of serum CTRP12 levels were measured before,during and on the 3rd,5th and 7th day after PCI.The serum CTRP12 levels in culprit coronary ostium and peripheral vein were compared.CTRP12 levels in peripher-al venous serum were compared at different time points after PCI.The severity of coronary artery disease was evaluated by SYNTAX score system,and the AMI patients were divided into two groups:SYNTAX score ≤22 and SYNTAX score＞22.The serum CTRP12 levels were compared between the two groups and before and after PCI.The correlation between CTRP12 and age,body mass index(BMI),fasting blood glucose,blood lipid and other factors was analyzed.The influencing factors of the severity of coronary artery le-sions were analyzed by logistic regression.Results The serum CTRP12 level in the patients with AMI was significantly lower than that in healthy controls(P＜0.05).There was no significant difference between the serum CTRP12 levels between preoperative peripheral vein and intraoperative culprit coronary orifice(P＞0.05).Compared with that before PCI,the serum CTRP12 level was lower on the 3rd day after PCI(P＜0.05),and increased on the 5th and 7th days after PCI,but no statistically significant difference was found(P＞0.05).Compared with those on the 3rd day after PCI,the serum CTRP12 levels were increased on the 5th and 7th day after PCI,but no statistically significant differences were found(all P＞0.05).Compared with that in the SYNTAX≤22 group,the CTRP12 levels were significantly lower than those before PCI and on the 3rd day after PCI(all P＜0.05),while there was no significant difference on the 5th and 7th day after PCI in SYNTAX＞22 group(all P＞0.05).CTRP12 was negatively correlated with the level of total cholesterol(TC)and positively correlated with high-density lipoprotein cholesterol(HDL-C).Univariate logistic regression analysis showed that CTRP12 was an independent influencing factor for the severity of coronary artery disease in the patients with AMI(β=-1.671,OR=0.188,P＜0.05).After adjusting for the effects of age,gender,BMI,smoking,hypertension,diabetes,fasting blood glucose,total cholesterol(TC),triglyceride(TG),HDL-C and low-density lipoprotein cholesterol(LDL-C),CTRP12 was still an independent in-fluencing factor for the severity of coronary artery disease in the patients with AMI(β=-3.441,OR=0.032,P＜0.05).Conclusion The serum CTRP12 level was significantly decreased in the patients with AMI before PCI,and showed continuous decline on the 3rd day after PCI,but increased on the 5th and 7th day after PCI.CTRP12 should be an independent influencing factor for the severity of coronary artery disease in the patients with AMI.

Objective:To observe any effect of repetitive transcranial magnetic stimulation (rTMS) on sleep disorders among children with cerebral palsy (CP).Methods:A total of 102 children with CP and disordered sleep were randomly divided into an experimental group and a control group, each of 51. All were given routine rehabilitation and sleep health education, but the experimental group additionally received rTMS for two weeks. The polysomnography (PSG) results of the two groups were recorded and analyzed.Results:The PSG parameters had improved greatly in both groups after the treatment. The percentage of N2 sleep (depth of sleep during light sleep) in the severe cerebral palsy group and of N3 sleep (depth of sleep during deep sleep) in the moderate cerebral palsy group had increased significantly more than in the mild cerebral palsy group, on average. After the intervention the percentages of N2 and N3 in those with mixed cerebral palsy and of N3 in those with involuntary motor cerebral palsy had increased significantly more than in those with spastic cerebral palsy, on average.Conclusion:rTMS treatment can improve the sleep disorders of children with cerebral palsy, especially N2 sleep among children with moderate to severe cerebral palsy, N3 sleep in cases of mixed or dyskinetic CP.

Objective:To investigate the current situation of the use of transjugular intrahepatic portosystemic shunt (TIPS) for portal hypertension, which should aid the development of TIPS in China.Methods:The China Portal Hypertension Alliance (CHESS) initiated this study that comprehensively investigated the basic situation of TIPS for portal hypertension in China through network research. The survey included the following: the number of surgical cases, main indications, the development of Early-TIPS, TIPS for portal vein cavernous transformation, collateral circulation embolization, intraoperative portal pressure gradient measurement, commonly used stent types, conventional anticoagulation and time, postoperative follow-up, obstacles, and the application of domestic instruments.Results:According to the survey, a total of 13 527 TIPS operations were carried out in 545 hospitals participating in the survey in 2021, and 94.1% of the hospital had the habit of routine follow-up after TIPS. Most hospitals believed that the main indications of TIPS were the control of acute bleeding (42.6%) and the prevention of rebleeding (40.7%). 48.1% of the teams carried out early or priority TIPS, 53.0% of the teams carried out TIPS for the cavernous transformation of the portal vein, and 81.0% chose routine embolization of collateral circulation during operation. Most of them used coils and biological glue as embolic materials, and 78.5% of the team routinely performed intraoperative portal pressure gradient measurements. In selecting TIPS stents, 57.1% of the hospitals woulel choose Viator-specific stents, 57.2% woulel choose conventional anticoagulation after TIPS, and the duration of anticoagulation was between 3-6 months (55.4%). The limitation of TIPS surgery was mainly due to cost (72.3%) and insufficient understanding of doctors in related departments (77.4%). Most teams accepted the domestic instruments used in TIPS (92.7%).Conclusions:This survey shows that TIPS treatment is an essential part of treating portal hypertension in China. The total number of TIPS cases is far from that of patients with portal hypertension. In the future, it is still necessary to popularize TIPS technology and further standardize surgical indications, routine operations, and instrument application.

Objective:To explore the epileptic phenotype spectrum of SLC6A1 gene mutations and their genotype-phenotype correlation. Methods:Four hundred patients with epilepsy of unknown etiology admitted to Epilepsy Center, Department of Neurology, Second Affiliated Hospital of Guangzhou Medical University from July 2019 to July 2024 were enrolled to screen the SLC6A1 gene mutations; the clinical characteristics, mutation pathogenicity, and changes of hydrogen bond between amino acids, stability and amino acid hydrophobicity of SLC6A1 gene encoded proteins caused by missense mutations in patients with SLC6A1 gene mutations were analyzed. At the same time, a comprehensive search was conducted in PubMed, HGMD and CNKI databases to collect the publicly reported SLC6A1 gene mutations related to epilepsy up to September 8, 2024; differences in proportion of missense mutations between the two most common and featured epileptic phenotypes and proportion of missense mutations in loops of SLC6A1 gene coding proteins were analyzed. Results:Five patients carried SLC6A1 gene mutations in 400 patients with epilepsy of unknown etiology: 2 had de novo heterozygous canonical splice site mutations (c.850-1G>A and c.1324-1G>A), with phenotypes as partial epilepsy combined with severe development delay and childhood absence epilepsy combined with mild developmental delay; 2 had de novo heterozygous missense mutations (c.187G>A/p.Gly63Ser and c.1081C>A/p.Pro361Thr), with phenotypes as partial epilepsy combined with mild development delay and generalized epilepsy combined with severe development delay; and one had heterozygous missense mutation of unknown origin (c.700G>A/p.Gly234Ser), with phenotype as Lennox-Gastaut syndrome. Four de novo mutations were evaluated as having pathogenic or likely pathogenic features, and one mutation of unknown origin was evaluated as of uncertain significance. In addition, 3 missense mutations caused significant changes in number or bonding form of hydrogen bonds between amino acids of the encoded proteins, with obviously decreased stability and hydrophobicity of the encoded proteins. (2) Results of literature analysis showed that 84 SLC6A1 mutations have been reported to be associated with epilepsy; combined with the genetic results in this study, a total of 89 SLC6A1 mutations were identified, including 53 missense mutations, 33 nonsense mutations, and 3 in-frame/in-del mutations; 7 epilepsy phenotypes were involved, including 38 patients with myoclonic atonic epilepsy (MAE), 16 with epilepsy, 12 with epileptic encephalopathy, 8 with childhood absence epilepsy, 6 with childhood-onset epilepsy, 6 with generalized epilepsy, and 3 with focal epilepsy. No significant difference in proportion of missense mutations was noted between MAE and epileptic encephalopathy patients ( P>0.05); however, the proportion of missense mutations in loops of the epileptic encephalopathy patients was significantly higher than that of the MAE patients ( P<0.05). Conclusion:SLC6A1 gene mutations can cause complex and diverse epilepsy phenotype spectrum, and most patients are accompanied by developmental delay; subregional effect of the encoded protein molecules may be a potential mechanism for different clinical phenotypes between MAE and epileptic encephalopathy caused by SLC6A1 gene mutations.

Objective To investigate changes in serum complement C1 tumor necrosis factor-related pro-tein family 12(CTRP12)level before and after percutaneous coronary intervention(PCI)in patients with acute myocardial infarction(AMI)and the relationship of CTRP12 level with in-stent restenosis(ISR).Methods A total of 104 patients who had been diagnosed with AMI and had undergone PCI at Danyang People's Hospital in Jiangsu Province from January 2021 to June 2023 were selected.The incidence of ISR within 12 months after PCI was counted,and they were divided into an ISR group and a non-ISR group according to the results of reviewed coronary angiography.Serum CTRP12 levels were compared between the two groups before PCI and on one day before discharge.Logistic regression was used to analyze the influencing factors of ISR in AMI patients after PCI.Receiver operating characteristic(ROC)curve was used to analyze the predictive value of CTRP12 for ISR in AMI patients after PCI.Results The incidence of ISR in 104 AMI patients at 12 months after PCI was 14.4%(15/104).As compared with the non-ISR group,the ISR group had significant increases in preoperative TIMI flow of≤1,white blood cell count,neutrophil count,TC,and LDL-C,and a significant decline in serum CTRP12 level on one day before discharge(P<0.05).In the non-ISR group,serum CTRP12 level was significantly higher on one day before discharge than its baseline(P<0.05).In the ISR group,serum CTRP12 level on one day before discharge was lower than its baseline,but the difference was not statistically significant(P>0.05).Logistic regression analysis showed that a lower CTRP12 level on one day before discharge was an independent risk factor for ISR in AMI patients after PCI(P<0.05).ROC curve analysis showed that the optimal cut-off point of serum CTRP12 on one day before discharge for predicting ISR in AMI patients after PCI was 3.89 ng/mL(sensitivity 93.3%and speci-ficity 73.0%),and the area under the ROC curve(AUC)was 0.849.Conclusions Serum CTRP12 level inone day before discharge has certain predictive value for ISR in AMI patients after PCI.CTRP12 may be a therapeutic target for ISR in AMI patients after PCI.

Objective:To explore the application value of ventricular intracranial pressure monitoring (V-ICPM) in the treatment of unilateral temporal lobe cerebral contusion.Methods:A retrospective cohort study was conducted to analyze the clinical data of 295 patients with unilateral temporal lobe cerebral contusion admitted to 904th Hospital of PLA Joint Support Force from January 2014 to August 2021, including 172 males and 123 females; aged 14-78 years [(46.3±14.7)years]. V-ICPM was used in 136 patients (V-ICPM group), who received surgical or non-surgical treatment according to the monitoring, while not in 159 patients (non-V-ICPM group), who received routine surgery or non-surgical treatment. The two groups were compared in terms of the rates of intracranial hematoma clearance by craniotomy, decompressive craniectomy (DC) and dehydration and osmotic therapy during hospitalization, use time of 20% mass fraction of mannitol and 30 g/L hypertonic salt, displacement rate of brain midline structure of head CT≥10 mm after discharge, rate of intracranial infection, hydrocephalus and epilepsy, and Glasgow Outcome Scale (GOS) at 6 months after discharge.Results:All patients were followed up for 6-12 months [(8.9±2.1)months]. During hospitalization, the rate of intracranial hematoma clearance by craniotomy and the rate of DC in V-ICPM group were 35.3% (48/136) and 8.1% (11/136), lower than 47.2% (75/159) and 22.0% (35/159) in non-V-ICPM group ( P<0.05 or 0.01). There was no significant difference between the two groups in the rate of dehydration and osmotic therapy or the use time of mannitol (all P>0.05). The use time of hypertonic salt in V-ICPM group was (7.2±2.5)days, more than (4.1±1.8)days in non-V-ICPM group ( P<0.05). After discharge, the displacement rate of brain midline structure of head CT in V-ICPM group was 29.4% (40/136), lower than 42.8% (68/159) in non-V-ICPM group ( P<0.05). There was no significant difference between the two groups in the rate of intracranial infection, hydrocephalus and epilepsy (all P>0.05). Six months after discharge, the good rate of GOS in V-ICPM group was 91.2% (124/136), significantly better than 81.8% (130/159) in non-V-ICPM group ( P<0.05). Conclusion:For unilateral temporal lobe cerebral contusion, V-ICPM is associated with reduced rate of craniotomy exploration and DC, decreased incidence of complications and improved prognosis of the patients in spite of longer use time of hypertonic salt.

Objective:To compare the differences in sleep structure between healthy children and children with cerebral palsy (CP) using polysomnography (PSG).Methods:Fifty-six children aged 1-15 hospitalized for cerebral palsy formed the experimental group, while 30 healthy children served as controls. Both groups were given 24-hour PSG, and their sleep structures were compared and analyzed.Results:The incidence of sleep disorders in the children with cerebral palsy (55.4%) was significantly higher than among the healthy children (20.0%). The average sleep latency was significantly higher than among the healthy children, while the duration and the percentage of the rapid eye movement (REM) stage were significantly lower than among the healthy children. Total sleep time [(458.47±95.62)min], sleep efficiency [(74.26±13.63)%], duration of REM [(68.90±42.70)min] and REM percentage [(13.87±7.12)%] were all significantly lower for the children with severe cerebral palsy than for those with mild or moderate disorder. Their time to wake up after falling asleep was significantly longer. Moreover, the duration of REM and the REM percentage of children with dyskinetic cerebral palsy were significantly lower than for those with spastic cerebral palsy.Conclusions:The incidence of sleep disorders among children with cerebral palsy is higher than among healthy children. They have more difficulty in falling asleep and have a shorter REM stage. Children with severe cerebral palsy and involuntary cerebral palsy have more sleep problems.

ObjectiveTo investigate the effect of Mahonia bealei leaf extract on depression of rats and the underlying mechanism. MethodThe chemical constituents of the extract were analyzed by HPLC-MS/MS. Forced swimming test and tail suspension test were carried out to estimate the antidepressant effect. The mice were randomly assigned into the following groups： blank group， positive control group （fluoxetine， 10 mg·kg^-1）， and Mahonia bealei leaf extract groups （10， 2.5 g·kg^-1）. The gavage lasted for 12 days and the immobility time of the mice in the tests was recorded 1 h after the last administration. Furthermore， to explore the underlying mechanism of the antidepressant effect， we established the rat depression model by intraperitoneal injection with reserpine （0.5 mg·kg^-1）. Rats were grouped as follows： blank group， model group， positive control group （fluoxetine， 1.8 mg·kg^-1）， and Mahonia bealei leaf extract groups （10， 2.5 g·kg^-1）. The gavage， once a day， lasted for 10 consecutive days. The depression of rats was detected by behavioral tests 1 h after the last administration. The levels of interleukin-6 （IL-6） and tumor necrosis factor-α （TNF-α） in serum of rats were detected by enzyme-linked immunosorbent assay （ELISA）. The protein expression of IL-6 and interleukin-1β （IL-1β） in brain tissue was detected by immunohistochemical staining. The protein levels of nuclear transcription factor-κB （NF-κB） and NOD-like receptor protein 3 （NLRP3） in hippocampus of rats were detected by Western blot. ResultSeven chemical constituents， mainly alkaloids， were identified from the extract. Compared with the blank group， Mahonia bealei leaf extract shortened the immobility time of mice in tail suspension and forced swimming tests. Compared with the blank group， the modeling of rat depression increased the blepharoptosis incidence and retention time in circles （P<0.05， P<0.01）， elevated the levels of IL-6 and TNF-α in serum （P<0.05）， and up-regulated the protein levels of IL-6， IL-1β， NF-κB， and NLRP3 in brain tissues （P<0.01）. Compared with the model group， high dose of Mahonia bealei leaf extract shortened the retention time in circles （P<0.05）， lowered the levels of IL-6 and TNF-α in serum （P<0.05， P<0.01）， and down-regulated the protein levels of IL-6， IL-1β， NF-κB， and NLRP3 （P<0.01） in brain tissues. ConclusionMahonia bealei leaf extract had significant antidepressant effect and alleviated the inflammatory response in reserpine-induced rat model of depression， the mechanism of which may be related to the inhibition of NF-κB/NLRP3 signaling pathway.

Objective:The investigation and research on the application status of Hepatic Venous Pressure Gradient (HVPG) is very important to understand the real situation and future development of this technology in China.Methods:This study comprehensively investigated the basic situation of HVPG technology in China, including hospital distribution, hospital level, annual number of cases, catheters used, average cost, indications and existing problems.Results:According to the survey, there were 70 hospitals in China carrying out HVPG technology in 2021, distributed in 28 provinces (autonomous regions and municipalities directly under the central Government). A total of 4 398 cases of HVPG were performed in all the surveyed hospitals in 2021, of which 2 291 cases (52.1%) were tested by HVPG alone. The average cost of HVPG detection was (5 617.2±2 079.4) yuan. 96.3% of the teams completed HVPG detection with balloon method, and most of the teams used thrombectomy balloon catheter (80.3%).Conclusion:Through this investigation, the status of domestic clinical application of HVPG has been clarified, and it has been confirmed that many domestic medical institutions have mastered this technology, but it still needs to continue to promote and popularize HVPG technology in the future.

Objective:To explore the genetic basis for a proband with Shprintzen-Goldberg syndrome (SGS).Methods:Whole exome sequencing was carried out to detect potential variants associated with the relevant phenotypes. Candidate variants were verified by Sanger sequencing of the patient and her family.Results:DNA sequencing revealed that that the proband has carried a de novo heterozygous missense c. 94C>G (p.Leu32Val) variant in exon 1 of the SKI gene (NM_003036), which has been reported previously. The same variant was not detected in either parent. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PS1+ PS2+ PM1+ PM2+ PP2+ PP3). Conclusion:The SKI c. 94C>G (p. Leu32Val) variant probably underlay the autosomal dominant SGS in this patient.