OBJECTIVE: To explore the clinical phenotype and genetic characteristics of four patients with Phelan-McDermid syndrome (PMS) due to variants of SHANK3 gene. METHODS: Four patients diagnosed with PMS at Guangzhou Women and Children's Medical Center Liuzhou Hospital from January 2020 to January 2025 were selected as the study subjects. Clinical data of the patients were collected. Peripheral venous blood samples were collected from each patient for the extraction of genomic DNA, followed by whole-exome sequencing (WES) and validation by Sanger sequencing. Pathogenicity of candidate variants was rated based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), and multiple bioinformatic tools were used to assess the pathogenic effects of the variants. The study was approved by the Ethics Committee of the Hospital (Ethics No. 2025-007). RESULTS: All four patients had exhibited language delay and intellectual disability (IQ 35 ~ 65). Some also presented with autism spectrum disorder and schizophrenia, albeit with significant phenotypic heterogeneity. All patients were found to harbor deletions of 22q13.33 region, ranging from 55.46 Kb to 112.64 Kb, primarily involving the SHANK3 gene. CONCLUSION PMS is typically caused by deletions or mutations of the SHANK3 gene. The clinical manifestations are diverse, with developmental delay and intellectual disability being the most common. Accurate diagnosis requires integration of genetic testing and standardized clinical assessment. Genetic screening for suspected patients and at-risk pregnant women is recommended to facilitate their genetic counseling.
Child ; Humans ; Chromosome Deletion ; Chromosome Disorders/genetics* ; Chromosomes, Human, Pair 22/genetics* ; Exome Sequencing ; Nerve Tissue Proteins/genetics* ; Phenotype

AIM To evaluate the quality of Rubi Fructus.METHODS UPLC-Q-TOF-MS/MS was adopted in the component identification,after which the HPLC fingerprints were established,cluster analysis,principal component analysis and orthogonal partial least squares discriminant analysis were used for chemical pattern recognition.and the contents of chlorogenic acid,ferulic acid,ellagic acid,isoquercitrin,kaempferol-3-O-rutinoside,astragalin,tiliroside quercetin,kaempferol were determined.RESULTS Total 34 constituents were identified.There were 19 common peaks in the fingerprints for 31 batches of medicinal materials with the similarities of more than 0.8.Wild varieties and cultivated varieties,and medicinal materials from different producing areas could be distinguished;4 principal components demonstrated the accumulative variance contribution rate of 84.142％;8 differential components were screened,2 of which were ellagic acid and astragalin.Ellagic acid and astragalin displayed higher contents in the wild varieties than those in the cultivated varieties(P＜0.05,P＜0.01).CONCLUSION UPLC-Q-TOF-MS/MS,HPLC fingerprints combined with content determination can be used for the quality control of Rubi Fructus.

Objectives:To investigate the predictive value of epicardial fat volume(EFV)and atrioventricular groove fat thickness(AVGT)—morphological biomarkers of epicardial adipose tissue—for major adverse cardiovascular events(MACE)in patients with dilated cardiomyopathy(DCM).Methods:This study enrolled 216 DCM patients.EFV and AVGT were obtained from cardiac magnetic resonance imaging(CMR).Patients were divided into event-free group(n=142)and event group(n=74)based on MACE occurrence during follow-up.Receiver operating characteristic(ROC)curve analysis was used to determine optimal cutoff values.Survival differences were assessed using Kaplan-Meier analysis,Cox proportional hazards regression analysis was used to identify independent risk factors,and restricted cubic spline(RCS)models were used to evaluate dose-response relationships.Results:AVGT and EFV were significantly higher in the event group than in event-free group(both P<0.05).ROC analysis identified optimal MACE-predicting cutoffs as follows:AVGT≥7.74 mm(area under the curve[AUC]=0.57)and EFV≥78.6 ml(AUC=0.62).Kaplan-Meier analysis revealed significantly lower MACE-free survival rates in patients with AVGT≥7.74 mm and EFV≥78.6 ml(both P<0.05).Cox regression analysis confirmed that AVGT(HR=2.18,95%CI:1.34-3.54)and EFV(HR=1.81,95%CI:1.11-2.96)were independent MACE risk factors(both P<0.05)in this patient cohort.RCS models demonstrated the significant linear associations between EFV/AVGT and MACE risk(bothoverall P<0.05).Conclusions:EFV and AVGT,the non-invasive imaging biomarkers quantifying and characterizing fat distribution,are independently correlated with elevated MACE risk in DCM patients.These metrics serve as potential prognostic indicators,enriching risk stratification indicators for early identification of high-risk patients and guiding personalized medication strategies.

Aim To systematically investigate the ac-tive components,targets,and regulatory pathways of Po-lygonum capitatum in intervening atherosclerosis(AS)through network pharmacology,molecular docking and animal experiments.Methods Active components of Polygonum capitatum and AS-related targets were screened and identified through database searches.Protein-protein interaction(PPI)network analysis was performed using the STRING database,followed by GO and KEGG enrichment analyses via the David plat-form.Molecular docking validation was conducted with AutoDock.An AS model was established in Syrian golden hamsters fed a high-fat diet.Predicted pathways and targets were validated using qPCR,ELISA,and histopathological assessment of aortic and hepatic tis-sues via HE staining.Results Network pharmacology identified 27 potential active components of Polygonum capitatum(primarily flavonoids such as quercetin and luteolin)and 110 drug-disease intersection targets,in-cluding core targets MMP-9,ALB,and AKT1.GO and KEGG analyses enriched 593 and 125 pathways,re-spectively,with the NF-κB inflammatory pathway,TNF signaling pathway and lipid metabolism/atherosclerosis pathways highlighted as key mechanisms.Animal ex-periments demonstrated that Polygonum capitatum im-proved serum lipid profiles(reduced TC,TG,LDL-C)in AS hamsters,suppressed the MMP-9/NF-κB signa-ling pathway(downregulated MMP-9,p65 phosphoryla-tion,TNF-α,and IL-6),and inhibited VSMC synthetic phenotypic transformation(upregulated α-SMA and myocardin)by downregulating MCPIP1.Additionally,Polygonum capitatum ameliorated aortic lesions and he-patic lipid deposition in AS hamsters.Conclusions Polygonum capitatum alleviates AS by synergistically regulating the MMP-9/NF-κB/MCPIP1 axis through flavonoid components,suppressing vascular inflammato-ry cascades and maintaining VSMC contractile pheno-types.This reflects Polygonum capitatum's multi-com-ponent,multi-pathway,and multi-target characteristics in combating AS.

In 2024,the Japanese Circulation Society(JCS)and the Japanese Heart Rhythm Society(JHRS)jointly released the updated guidelines for the management of cardiac arrhythmias.The guideline provided updates on strategies for arrhythmias management,including device therapy,catheter ablation,pharmacological treatment and comprehensive management of atrial fibrillation(AF).This article focuses on the management of AF,including stroke risk assessment,oral anticoagulation therapy,high-risk patients management,comprehensive strategies,and lifestyle interventions.The guideline proposed a new stroke risk scoring tool,the HELT-E2 S2 score,refined the management of anticoagulation therapy in special high-risk patients,and updated comprehensive management strategies and lifestyle interventions for AF.These updates aim to enhance the prognosis and quality of life for AF patients,and also provide valuable insights for the management optimization of AF patients in China.

Objective To explore the effects of preoperative transcatheter arterial chemoembolization(TACE)on early postoperative recurrence in the China liver cancer(CNLC)staging Ⅰb-Ⅱa patients with primary hepatocellular carcinoma.Methods The data of patients with CNLC Ⅰb-Ⅱa stage hepatocellular carcinoma who underwent curative liver resection in Xiangyang Central Hospital from May 2017 to May 2022 were retrospectively analyzed.A total of 76 patients were included,patients were divided into preoperative TACE group(n=32)and surgery group(n=44)according to whether they underwent preoperative TACE.Observe the postoperative recovery of patients.Combined with the postoperative pathological results,adjuvant TACE treatment is performed.Regular reexamination and follow-up are conducted after discharge.The Kaplan-Meier method was used to estimate survival time,calculate 95％CI,and plot the Disease-free(DFS)survival curve.The Cox proportional risk model was used for univariate and multivariate analysis.Results The 1-year disease-free survival rate in the preoperative TACE group was higher than that in the direct surgery group(96.9％vs.84.1％,P＞0.05).The 2-year disease-free survival rate in the preoperative TACE group was higher than that in the direct surgery group(90.6％vs.70.5％,P＜0.05).The disease-free survival of the preoperative TACE group was higher than the direct surgery group(23.03 months vs.20.14 months,P＜0.05).The incidence of treatment-related adverse events after surgery in the preoperative TACE group was higher than that in the direct surgery group(34.4％vs.20.5％,P＞0.05).Multivariate Cox regression analysis showed that different treatment methods,tumor number ≥ 2,and tumor microvascular invasion were prognostic factors affecting tumor recurrence.No severe adverse reactions occurred in either group,and no deaths caused by adverse reactions were observed.Conclusion Compared with direct surgery,preoperative TACE can help improve early postoperative recurrence,prolong patients'disease-free survival,and do not lead to serious adverse events.

The medical ultrasonic nebulizer was introduced in terms of composition,working principle and testing principle and method of the maximum nebulization rate.The testing characteristics of the volumetric and gravimetric methods were compared.A series of experiments were conducted using the whole-unit gravimetric approach.The initial liquid charge was indicated to be the primary factor affecting the maximum nebulization rate,and the influence increased significantly when the nebulizer's nominal volume got expanded.References were provided for medical testing staffs in selecting testing methods.

In 2024,the Japanese Circulation Society(JCS)and the Japanese Heart Rhythm Society(JHRS)jointly released the updated guidelines for the management of cardiac arrhythmias.The guideline provided updates on strategies for arrhythmias management,including device therapy,catheter ablation,pharmacological treatment and comprehensive management of atrial fibrillation(AF).This article focuses on the management of AF,including stroke risk assessment,oral anticoagulation therapy,high-risk patients management,comprehensive strategies,and lifestyle interventions.The guideline proposed a new stroke risk scoring tool,the HELT-E2 S2 score,refined the management of anticoagulation therapy in special high-risk patients,and updated comprehensive management strategies and lifestyle interventions for AF.These updates aim to enhance the prognosis and quality of life for AF patients,and also provide valuable insights for the management optimization of AF patients in China.

Objective To explore the effects of preoperative transcatheter arterial chemoembolization(TACE)on early postoperative recurrence in the China liver cancer(CNLC)staging Ⅰb-Ⅱa patients with primary hepatocellular carcinoma.Methods The data of patients with CNLC Ⅰb-Ⅱa stage hepatocellular carcinoma who underwent curative liver resection in Xiangyang Central Hospital from May 2017 to May 2022 were retrospectively analyzed.A total of 76 patients were included,patients were divided into preoperative TACE group(n=32)and surgery group(n=44)according to whether they underwent preoperative TACE.Observe the postoperative recovery of patients.Combined with the postoperative pathological results,adjuvant TACE treatment is performed.Regular reexamination and follow-up are conducted after discharge.The Kaplan-Meier method was used to estimate survival time,calculate 95％CI,and plot the Disease-free(DFS)survival curve.The Cox proportional risk model was used for univariate and multivariate analysis.Results The 1-year disease-free survival rate in the preoperative TACE group was higher than that in the direct surgery group(96.9％vs.84.1％,P＞0.05).The 2-year disease-free survival rate in the preoperative TACE group was higher than that in the direct surgery group(90.6％vs.70.5％,P＜0.05).The disease-free survival of the preoperative TACE group was higher than the direct surgery group(23.03 months vs.20.14 months,P＜0.05).The incidence of treatment-related adverse events after surgery in the preoperative TACE group was higher than that in the direct surgery group(34.4％vs.20.5％,P＞0.05).Multivariate Cox regression analysis showed that different treatment methods,tumor number ≥ 2,and tumor microvascular invasion were prognostic factors affecting tumor recurrence.No severe adverse reactions occurred in either group,and no deaths caused by adverse reactions were observed.Conclusion Compared with direct surgery,preoperative TACE can help improve early postoperative recurrence,prolong patients'disease-free survival,and do not lead to serious adverse events.

The medical ultrasonic nebulizer was introduced in terms of composition,working principle and testing principle and method of the maximum nebulization rate.The testing characteristics of the volumetric and gravimetric methods were compared.A series of experiments were conducted using the whole-unit gravimetric approach.The initial liquid charge was indicated to be the primary factor affecting the maximum nebulization rate,and the influence increased significantly when the nebulizer's nominal volume got expanded.References were provided for medical testing staffs in selecting testing methods.