ObjectiveTo perform metabolic associated fatty liver disease （MAFLD） screening among individuals attending community health institutions， to identify the patients at a low， moderate or high risk of advanced liver fibrosis based on fibrosis-4 index （FIB-4） and liver stiffness measurement （LSM） measured by liver transient elastography， and to implement stratified management. MethodsA cross-sectional study was conducted among 630 individuals attending Beijing Baizhifang Community Health Service Center from January to July 2024， and they were divided into MAFLD group and non-MAFLD group. According to body mass index （BMI）， the MAFLD group was further divided into lean MAFLD group （BMI<23 kg/m²） and non-lean MAFLD group （BMI≥23 kg/m²）. The above groups were compared in terms of demographic features， laboratory markers， hepatic steatosis， and LSM. Fibrosis risk stratification was performed for MAFLD patients based on FIB-4 and LSM， and a closed-loop management system involving referral to tertiary hospitals and follow-up at community health institutions was implemented. The Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups， and the chi-square test or the Fisher’s exact test was used for comparison of categorical data between groups. ResultsThere were 445 individuals （70.6%） in the MAFLD group and 185 individuals （29.4%） in the non-MAFLD group. Compared with the non-MAFLD group， the MAFLD group had a significantly lower proportion of male individuals （χ²=4.299， P<0.05）， a significant reduction in the level of high-density lipoprotein cholesterol （Z=3.484， P<0.05）， and significant increases in body weight （Z=-7.366， P<0.05）， BMI （Z=-9.740， P<0.05）， waist circumference （Z=-6.397， P<0.05）， hip circumference （Z=-6.935， P<0.05）， alanine aminotransferase （ALT） （Z=-2.765， P<0.05）， fasting blood glucose （Z=-3.646， P<0.05）， triglyceride （TG） （Z=-6.569， P<0.05）， total cholesterol （Z=-2.033， P<0.05）， low-density lipoprotein cholesterol （Z=-2.935， P<0.05）， controlled attenuation parameter （CAP） （Z=-19.784， P<0.05）， and LSM （Z=-5.703， P<0.05）. Within the MAFLD group， there were 124 individuals （27.9%） in the lean MAFLD group and 321 individuals （72.1%） in the non-lean MAFLD group. Compared with the non-lean MAFLD group， the lean MAFLD group had significantly lower body weight （Z=-12.414， P<0.05）， BMI （Z=-16.363， P<0.05）， waist circumference （Z=-7.733， P<0.05）， hip circumference （Z=-8.595， P<0.05）， ALT （Z=-2.835， P<0.05）， aspartate aminotransferase （Z=-1.972， P<0.05）， TG （Z=-2.407， P<0.05）， CAP （Z=-4.429， P<0.05）， degree of steatosis （χ²=16.588， P<0.05）， and LSM （Z=-3.908， P<0.05）. Based on the results of FIB-4 and LSM， 76 patients at a moderate or high risk of liver fibrosis should be referred to a higher-level hospital for further management. ConclusionThe detection rate of MAFLD reaches 70.6% among the individuals attending community health institutions， among whom 76 （17.1%） should be referred to a higher-level hospital. Establishing a liver fibrosis risk stratification and management system based on FIB-4 and LSM among MAFLD individuals in communities provides a practical pathway for chronic disease management and referral system construction in community health institutions.

Hepatocellular carcinoma （HCC） is a hepatic malignancy with a high mortality rate， and the development and progression of HCC is closely associated with gut microbiota and their metabolites. Butyrate is a kind of short-chain fatty acid produced by gut microbiota through metabolism， and it plays an important role in various aspects such as protecting intestinal barrier， regulating immune response， and exerting an antitumor effect. Notably， there is a reduction in the abundance of butyrogenic microbes and dysregulation of butyrate metabolism in patients with HCC， which provides new ideas for the treatment of HCC based on microbes and their metabolites. Current studies have preliminarily shown that butyrogenic microbes and butyrate exhibit both predictive and synergistic effects in the treatment of HCC and thus have broad prospects for clinical application. This article systematically elaborates on their characteristics in the progression of HCC， summarizes related research advances in their combination with systemic treatment strategies， and provides new insights for future research directions， in order to promote their clinical application.

OBJECTIVE: To investigate the effectiveness of Youngswick-Akin osteotomy in the treatment of moderate hallux valgus combined with mild to moderate hallux rigidus. METHODS: The clinical data of 43 patients with moderate hallux valgus combined with mild to moderate hallux rigidus who were admitted between August 2019 and August 2022 and met the selection criteria were retrospectively analyzed. There were 8 males and 35 females. The age ranged from 28 to 77 years, with an average age of 59.0 years. The disease duration ranged from 10 to 35 months, with an average of 20 months. The degree of hallux rigidus included 2 cases of CoughlinⅠ degree, 29 cases of Ⅱ degree, 12 cases of Ⅲ degree. The preoperative hallux valgus angle ranged from 25° to 40°, with an average of 32°. All patients were treated with Youngswick-Akin osteotomy. The first metatarsophalangeal joint space was compared before operation and at 6 months after operation. The American Orthopaedic Foot and Ankle Society (AOFAS) score and visual analogue scale (VAS) score were used to evaluate the functional recovery and pain relief of the patients before operation and at 6 and 24 months after operation. According to the severity of hallux rigidus, the patients were divided into mild group (Ⅰ, Ⅱ degree) and moderate group (Ⅲ degree) to compare the prognosis, including the changes of AOFAS score, VAS score, and the first metatarsophalangeal joint space. RESULTS: The operation time was 60-75 minutes (mean, 65 minutes). The intraoperative blood loss was 10-30 mL (mean, 20 mL). Two cases had superficial infection of the incision margin after operation, and healed well after dressing change and antibiotic treatment. The incisions of the other patients healed by first intention, and no medial cutaneous nerve injury of the great toe occurred. All patients were followed up 24-31 months, with an average of 25.8 months. The patient's hallux valgus deformity was corrected without recurrence; no complication such as osteomyelitis and hallux varus occurred. The AOFAS score, VAS score, and the first metatarsophalangeal joint space after operation significantly improved when compared with those before operation, the AOFAS score and VAS score at 24 months after operation further improved when compared with those at 6 months after operation, and the differences were significant ( P<0.05). The change of VAS score in mild group was significantly better than that in moderate group ( P<0.05); but there was no significant difference in the changes of AOFAS score and the first metatarsophalangeal joint space between the two groups ( P>0.05). CONCLUSION Youngswick-Akin osteotomy for moderate valgus deformity with mild to moderate hallux rigidus can achieve good functional recovery, pain relief, and joint space improvement.
Humans ; Osteotomy/methods* ; Hallux Valgus/diagnostic imaging* ; Male ; Female ; Middle Aged ; Hallux Rigidus/diagnostic imaging* ; Retrospective Studies ; Adult ; Aged ; Treatment Outcome ; Metatarsophalangeal Joint/surgery*

Objective To observe brain function changes in insomnia disorder(ID)patients and therapeutic effect of repeated transcranial magnetic stimulation(rTMS)based on resting-state functional MRI(rs-fMRI).Methods Totally 37 patients with ID(ID group)and 20 healthy subjects(control group)were prospectively enrolled.The scores of sleep condition and psychological state scales were compared between groups,also within ID group before and after rTMS treatment.Brain regions with amplitude of low frequency fluctuations(ALFF)and regional homogeneity(ReHo)being significantly different between groups were evaluated based on brain rs-fMRI,and voxel-based resting-state functional connectivity(FC)analysis was performed in the above regions and the predefined regions of interest.Results Before treatment,Pittsburgh sleep quality index(PSQI),insomnia severity index(ISI),Epworth sleepiness score(ESS),Beck depression inventory(BDI)score and Beck anxiety inventory(BAI)score in ID group were all higher than those in control group(all P＜0.05).ALFF values and ReHo of the right median cingulate and paracingulate gyrus(Cingulum_Mid_R)were lower in ID group than those in control group(all FWE correctedP＜0.05).FC between Cingulum_Mid_R and the left anterior cingulate gyrus and cingulate gyrus(Cingulum_Ant_L)decreased,so did that between the left hippocampus(Hippocampus_L)and the right frontal gyrus(Frontal_Mid_R)(all FWE corrected P＜0.05).After rTMS,PSQI,ISI and ESS scores of ID patients decreased compared to those before treatment(all P＜0.05),but no significant change of the above neuroimaging indicators was detected(all FWE corrected P＞0.05).Conclusion ID caused synchronous decrease of Cingulum_Mid_R ALFF value and ReHo,as well as weakened FC between frontal cingulate gyrus and frontal with lobe limbic system.rTMS could improve sleep and mental state of ID patients,but its impact on neuroimaging needed further investigation.

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.

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:① 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. ② 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.③ 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.

Objective: To investigate the effects of fine particulate matter (PM2.5) exposure on acute myocardial infarction (AMI) mortality and years of life lost (YLL). Methods: Mortality data in Haizhu District, Guangzhou City from 2020 to 2024 were collected by the China Population Death Information Registration Management System and Guangdong Death Certificate Management System. Air pollution and meteorological data of the same period were obtained from the national environmental monitoring sites on the National Real-time Air Quality Release Platform and the Guangzhou Observatory, respectively. The single-pollutant model and multi-pollutant model were established by distributed lag non-linear model to analyze the effects of PM2.5 on AMI mortality and YLL. Results: From 2020 to 2024, there were 2 466 AMI death cases in Haizhu District, including 949 males and 1 517 females. Among them, 530 cases were aged <65 years, 494 cases were aged 65-74 years, and 1 442 cases were aged >74 years. The median daily average number of deaths was 1.3 (interquartile range, 2.0) cases, and the median daily average YLL was 16.4 (interquartile range, 24.8) person years. The median daily average mass concentration of PM2.5 was 24.3 (interquartile range, 18.0) μg/m3. In single-pollutant models, the maximum effects of PM2.5 on AMI mortality and YLL were observed at a cumulative lag of 7 days. For per 10 μg/m3 increment in the daily average concentration of PM2.5, the excess risk of AMI mortality increased by 8.793% (95%CI: 4.201% to 13.588%), and YLL increased by 2.059 (95%CI: 1.081 to 3.037) person-years. Gender-stratified analyses showed that PM2.5 significantly affected AMI mortality in males and YLL in males and females (all P<0.05). Age-stratified analyses revealed that PM2.5 significantly affected AMI mortality and YLL among residents aged <65 years and 65-74 years (all P<0.05). However, the difference between genders or the two age groups was not statistically significant (both P>0.05). In multi-pollutant models, when NO2, SO2, or O3 were introduced respectively at a cumulative lag of 7 days, the effects of PM2.5 on AMI mortality and YLL were enhanced compared to the single-pollutant model (all P<0.05). When PM10 was introduced alone or in combination with PM10, SO2, NO2, and O3, the effects of PM2.5 on AMI mortality and YLL were not statistically significant (all P>0.05). Conclusion Exposure to PM2.5 may increase the risk of AMI mortality and YLL, with varying effects across populations of different genders and ages.

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*

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 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