Objective To investigate the changes in expression levels of Parkinson's disease protein 7(Park7)and P2X7R purinergic receptor(P2X7R)in the serum of patients with acute myocardial infarction(AMI)and their clinical significance.Methods A total of 145 AMI patients admitted to Chengde Veterans Hospital between February 2021 and May 2023 were recruited as the AMI group.According to the Gensini score for assessing the severity of coronary lesions,they were subdivided into a mild group(≤30 points,n=68),a moderate group(30-59 points,n=42),and a severe group(≥60 points,n=35).Additionally,120 healthy volunteers undergoing physical examinations at the same hospital were recruited as the control group.ELISA method was used to measure serum levels of Park7 and P2X7R.Correlation between serum Park7 and P2X7R levels and Gensini score in AMI patients was analysed by Spearman's method.ROC curves were used to evaluate the predictive value of serum Park7 and P2X7R for the occurrence of MACE.Plot Kaplan-Meier curves were plotted to analyze the cumulative MACE incidence rates in patients with different Park7 and P2X7R expression levels.Cox regression analysis was used to identify risk factors for MACE occurrence in AMI patients.Results Compared with the control group,the AMI group showed significantly increased levels of TC,TG,LDL-C,IL-6,CTnI,CK-MB,BNP,and serum P2X7R(P<0.05),and significantly decreased levels of serum HDL-C and Park7(P<0.05).Furthermore,statistically significant differences were observed in serum P2X7R and Park7 levels among patients with different severity levels(P<0.05).There was a negative correlation between serum Park7 and Gensini score in AMI patients(r=-0.497,P<0.05),while a positive correlation between P2X7R level and Gensini score(r=0.441,P<0.05).Serum Park7 level in the MACE group was significantly lower than that in the non MACE group(P<0.05),while the P2X7R level was significantly higher(P<0.05).The AUCs for serum Park7,P2X7R,and their combination in predicting MACE in AMI patients was 0.851,0.820,and 0.905,respectively,with the combined prediction demonstrating superior performance(Zcombination-Park7=2.324,Zcombination-P2X7R=2.538,P<0.05).The 6-month cumulative MACE incidence was lower in patients with low Park7 expression(51.22%)than in those with high Park7 expression(80.95%)(Log Rank χ2=12.178,P<0.001);conversely,the 6-month cumulative MACE incidence was higher in patients with low P2X7R expression(82.09%)than in those with high P2X7R expression(48.72%)(Log Rank χ2=20.233,P<0.001).CTnI,CK-MB,BNP,Park7,and P2X7R were identified as influencing factors for MACE in AMI patients(P<0.05).Conclusion Serum Park7 level is downregulated while P2X7Rlevel is upregulated in AMI patients,both closely related to the severity of the disease.The combination of the two has high predictive value for the occurrence of MACE in AMI patients.

Objective:To evaluate the value of D-dimer(D-D) levels in the diagnosis of thromboembolism in children with severe Mycoplasma pneumoniae pneumonia (SMPP).Methods:A case control study was conducted on 51 SMPP patients admitted to Qingdao Women and Children′s Hospital Affiliated to Qingdao University and Jining First People′s Hospital from January 1, 2021 to August 1, 2024.They were divided into a thrombus group (19 cases) and a non-thrombus group (32 cases) according to whether they had thromboembolism.The characteristics of the cases were analyzed.Logistic regression was used to analyze the relationship between increased D-D levels and the risk of thrombosis.The value of D-D levels in predicting thromboembolism in SMPP patients was evaluated by the receiver operating characteristic curve.Results:Of the 19 patients with thrombosis, 11 had with pulmonary thrombosis, 6 had cerebrovascular thrombosis, 3 had heart thrombosis, 1 had spleen artery thrombosis, and 3 had multiple site thrombosis.Compared with the non-thrombus group, the thrombus group had higher D-D levels[(18.5±4.9) mg/L vs.(3.1±0.8) mg/L, t=3.118, P=0.006], higher C-reactive protein levels[25.5(15.5, 92.7) mg/L vs.7.9(3.9, 21.4) mg/L, Z=3.292, P=0.001], higher lactate dehydrogenase levels[484(351, 743) U/L vs.347(285, 396) U/L, Z=2.770, P=0.006] and a higher proportion of pleural effusion[63.1%(12/19) vs.25.0%(8/32), χ2=7.282, P=0.009].Increased D-D levels were an independent risk factor for thromboembolism in SMPP patients ( P=0.005, OR=1.254, 95% CI: 1.069-1.472).When the D-D level was used for predicting thromboembolism in SMPP patients, its cut-off value was 4.46 mg/L, its Youden index was 0.707, its area under the curve was 0.893(95% CI: 0.807-0.979), its sensitivity was 89.5%, its specificity was 81.2%, and its negative predictive value was 92.9%. Conclusions:D-D levels have high value in predicting thromboembolism in SMPP patients, and it can help timely identify patients at high risk.

Epilepsy is a chronic neurological disorder affecting ~65 million individuals worldwide. Abnormal synaptic plasticity is one of the most important pathological features of this condition. We investigated how ubiquitin-specific peptidase 47 (USP47) influences synaptic plasticity and its link to epilepsy. We found that USP47 enhanced excitatory postsynaptic transmission and increased the density of total dendritic spines and the proportion of mature dendritic spines. Furthermore, USP47 inhibited the degradation of the ubiquitinated α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) subunit glutamate receptor 1 (GluR1), which is associated with synaptic plasticity. In addition, elevated levels of USP47 were found in epileptic mice, and USP47 knockdown reduced the frequency and duration of seizure-like events and alleviated epileptic seizures. To summarize, we present a new mechanism whereby USP47 regulates excitatory postsynaptic plasticity through the inhibition of ubiquitinated GluR1 degradation. Modulating USP47 may offer a potential approach for controlling seizures and modifying disease progression in future therapeutic strategies.
Animals ; Receptors, AMPA/metabolism* ; Neuronal Plasticity/physiology* ; Seizures/physiopathology* ; Disease Models, Animal ; Mice, Inbred C57BL ; Mice ; Ubiquitin Thiolesterase/genetics* ; Male ; Excitatory Postsynaptic Potentials/physiology* ; Ubiquitination ; Dendritic Spines/metabolism* ; Hippocampus/metabolism*

Autism spectrum disorder(ASD),characterized by unknown etiology and high heterogeneity,ne-cessitates precise diagnostic and intervention strategies.Neuroimaging techniques have shown great promise in un-covering the neural mechanisms of ASD,providing a foundation for aided diagnosis and transcranial magnetic stim-ulation(TMS)interventions.This review highlights that integrating multimodal neuroimaging and developing indi-vidualized indices with developmental specificity can significantly improve the accuracy of ASD diagnosis and clas-sification.Furthermore,TMS interventions guided by functional connectivity derived from functional magnetic reso-nance imaging(fMRI)offer a personalized approach to ASD treatment.

Objective To investigate the effects of transcutaneous electrical nerve stimulation(TENS)combined with mobilization with movement(MWM)on clinical efficacy,musculoskeletal ultrasound findings and bone metabolism indicators in patients with knee osteoarthritis(KOA).Methods Ninety KOA patients were collected and randomly divided into the control group(conventional rehabilitation+TENS,n=45)and the observation group(conventional rehabilitation+TENS+MWM,n=45)using a random number table.Clinical efficacy,knee joint function,musculoskeletal ultrasound indices and bone metabolism indices were compared between the two groups.Results The clinical efficacy of the observation group was superior to that of the control group(P＜0.05).At 2 and 6 months post-treatment,Western Ontario and McMaster Universities Osteoarthritis Index(WOMAC)were significantly lower in the observation group than those of the control group,and Lysholm Knee Scoring Scale scores were higher in the observation group than those of the control group(P＜0.05).Additionally,articular cartilage thickness,bone gla protein(BGP)and bone-specific alkaline phosphatase(BALP)were higher in the observation group than those of the control group,and synovial thickness,suprapatellar effusion and tartrate-resistant acid phosphatase 5b(TRACP-5b)were lower in the observation group than those of the control group(P＜0.05).Conclusion TENS combined with MWM in the treatment of KOA patients can not only improve knee joint function but also optimize musculoskeletal ultrasound indices and regulate bone metabolism indices.

BACKGROUND: Inflammation plays a critical role in severe cerebral venous thrombosis (CVT) pathogenesis, but the benefits of anti-inflammatory therapies remain unclear. This study aimed to investigate the association between steroid therapy combined with anticoagulation and the prognosis of acute/subacute severe CVT patients. METHODS: A prospective cohort study enrolled patients with acute/subacute severe CVT at Xuanwu Hospital (July 2020-January 2024). Patients were allocated into steroid and non-steroid groups based on the treatment they received. Functional outcomes (modified Rankin scale [mRS]) were evaluated at admission, discharge, and 6 months after discharge. Serum high-sensitivity C-reactive protein (hs-CRP), interleukin-6 (IL-6), cerebrospinal fluid (CSF) IL-6, and intracranial pressure were measured at admission and discharge in the steroid group. Fundoscopic Frisén grades were assessed at admission and 6 months after discharge. Univariate and multivariate logistic regression were used to evaluat associations between steroid use and favorable outcomes (mRS ≤2) at the 6-month follow-up. Paired tests assessed changes in hs-CRP and other variables before and after treatment, and Spearman's correlations were used to analyze relationships between these changes and functional improvements. RESULTS: A total of 107 and 58 patients in the steroid and non-steroid groups, respectively, were included in the analysis. Compared with the non-steroid group, the steroid group had a higher likelihood of achieving an mRS score of 0-2 (93.5% vs . 82.5%, odds ratio [OR] = 2.98, P  = 0.037) at the 6-month follow-up. After adjusting for confounding factors, the result remained consistent. Pulsed steroid therapy did not increase mortality during hospitalization or follow-up, nor did it lead to severe steroid-related complications (all P  >0.05). Patients in the steroid group showed a significant reduction in serum hs-CRP, IL-6, CSF IL-6, and intracranial pressure at discharge compared to at admission, as well as a significant reduction in the fundoscopic Frisén grade at the 6-month follow-up compare to at admission (all P  <0.001). A reduction in serum inflammatory marker levels during hospitalization positively correlated with improvements in functional outcomes ( P  <0.05). CONCLUSION: Short-term steroid use may be an effective and safe adjuvant therapy for acute/subacute severe CVT when used alongside standard anticoagulant treatments, which are likely due to suppression of the inflammatory response. However, these findings require further validation in randomized controlled trials. TRAIL REGISTRATION ClinicalTrials.gov , NCT05990894.
Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Anticoagulants/therapeutic use* ; C-Reactive Protein/metabolism* ; Interleukin-6/metabolism* ; Intracranial Thrombosis/drug therapy* ; Prospective Studies ; Steroids/therapeutic use* ; Venous Thrombosis/drug therapy*

Depression, a mental health disorder, has emerged as one of the significant challenges in the global public health domain. Investigating the pathogenesis of depression and accurately assessing the symptomatic changes are fundamental to formulating effective clinical diagnosis and treatment strategies. Utilizing non-invasive brain imaging technologies such as functional magnetic resonance imaging and scalp electroencephalography, existing studies have confirmed that the onset of depression is closely associated with abnormal neural activities and altered functional connectivity in multiple brain regions. Magnetoencephalography, unaffected by tissue conductivity and skull thickness, boasts high spatial resolution and signal-to-noise ratio, offering unique advantages and significant value in revealing the abnormal brain mechanisms and neural characteristics of depression. This review, starting from the rhythmic characteristics, nonlinear dynamic features, and connectivity characteristics of magnetoencephalography in depression patients, revisits the research progress on magnetoencephalography features related to depression, discusses current issues and future development trends, and provides insights for the study of pathophysiological mechanisms, as well as for clinical diagnosis and treatment of depression.
Humans ; Magnetoencephalography/methods* ; Brain/physiopathology* ; Depression/diagnosis* ; Electroencephalography ; Magnetic Resonance Imaging

OBJECTIVE: To explore the genotype-phenotype relationship in a child with Opitz G/BBB syndrome (OS) with mild clinical phenotype. METHODS: A child with motor developmental delay as the initial symptom admitted to Xi'an Children's Hospital on June 10, 2021 was selected for this study. Clinical data were collected, and peripheral blood samples were obtained from the child and his mother. Whole exome sequencing (WES) was performed to identify genetic variant in the child. Candidate variant were verified by Sanger sequencing to assess inheritance patterns and pathogenicity. Real-time fluorescence quantitative PCR (RT-qPCR) and Western blot (WB) analyses were conducted to evaluate the effects of the variant on mRNA and protein expression, respectively, using recombinant expression plasmids generated in vitro. This study was approved by the Medical Ethics Committee of Xi'an Children's Hospital (Ethics No. 20240045). RESULTS: The child, a 9-month-and-7-day-old boy, presented with a low nasal bridge, hypertelorism, and difficulty sitting independently. Echocardiography revealed an atrial septal defect. WES identified a homozygous variant in the MIDI gene, c.1483C>T (p.R495X), which was confirmed by Sanger sequencing and found to be inherited from the mother.Recombinant expression plasmids were successfully constructed. RT-qPCR analysis showed that the variant significantly reduced MIDI gene mRNA expression, while WB results indicated that the variant led to the production of a truncated protein. CONCLUSION The mild clinical phenotype of OS in this child may be attributed to the mRNA degradation escape mechanism induced by the nonsense variant c.1483C>T (p.R495X) in the MIDI gene. These findings provide valuable diagnostic insights for this pedigree and contribute to the understanding of the genotype-phenotype correlation in OS.
Humans ; Male ; Infant ; Transcription Factors/metabolism* ; Microtubule Proteins/genetics* ; Craniosynostoses/genetics* ; Hypospadias/genetics* ; Codon, Nonsense/genetics* ; RNA, Messenger/metabolism* ; Female ; RNA Stability/genetics* ; Phenotype ; Nuclear Proteins/genetics* ; Ubiquitin-Protein Ligases ; Esophagus/abnormalities* ; Hypertelorism

Autism spectrum disorder(ASD),characterized by unknown etiology and high heterogeneity,ne-cessitates precise diagnostic and intervention strategies.Neuroimaging techniques have shown great promise in un-covering the neural mechanisms of ASD,providing a foundation for aided diagnosis and transcranial magnetic stim-ulation(TMS)interventions.This review highlights that integrating multimodal neuroimaging and developing indi-vidualized indices with developmental specificity can significantly improve the accuracy of ASD diagnosis and clas-sification.Furthermore,TMS interventions guided by functional connectivity derived from functional magnetic reso-nance imaging(fMRI)offer a personalized approach to ASD treatment.

Objective To construction and investigate the application effect of auricular acupressure technology in patients with cough with different syndrome types.Methods From December 2022 to March 2023,the Delphi method was used to consult experts to form a technical scheme for auricular pressure in patients with cough with different syndrome types in the early and middle stages.122 patients with stage Ⅰ and stage Ⅱ lung cancer cough from the oncology department of 3 tertiary hospitals of Traditional Chinese Medicine in Beijing between July 2023 to January 2024 were randomly divided into an experimental group(61 cases)and a control group(61 cases).The experimental group referred to the constructed auricular acupressure technique program to identify and take acupoints,and the control group used the original auricular acupressure program for 7 d of continuous intervention.The changes in the scores of the Visual Analog Scale(VAS)and the scores of The MD Anderson Symptom Inventory for lung cancer(MDASI-LC)were observed in the 2 groups before and after the intervention.Results The final scheme included 3 first-level items,12 second-level items,and 14 third-level items.The 2 rounds of expert authority coefficients were 0.88,indicating a high degree of authority,and the Kendall harmony coefficients of the 2 rounds of correspondence were 0.170 and 0.130(P＜0.001),respectively,and the results tended to be consistent.A total of 122 patients completed the study.After intervention,the VAS score of cough severity in the experimental group was 3.0(2.0,3.0)points,which was lower than 3.0(3.0,4.0)points in the control group.The MDASI-LC score of the experimental group was 17.0(9.5,31.5)points,which was lower than 28.0(15.5,47.5)points in the control group,and the difference was statistically significant(P＜0.05).Conclusion The constructed auricular acupressure technique program has certain scientificity,and it can effectively relieve cough symptoms of stage Ⅰ～Ⅱ lung cancer patients,and the severity of symptom clusters has been improved,which provides the basis for TCM nursing intervention in cough symptoms of lung cancer patients.