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.

This article reports a case of a male patient， aged 60 years， who developed pyrrolizidine alkaloid-induced hepatic sinusoidal obstruction syndrome （PA-HSOS） due to ingestion of Gynura segetum （Lour.） Merr. The patient presented with ascites and abnormal liver function， and a confirmed diagnosis was made based on radiological examination and liver biopsy. Since the patient was allergic to low-molecular-weight heparin and had no response to supportive therapy， low-dose defibrotide was administered as rescue treatment. After treatment， the patient achieved rapid regression of ascites and recovery of liver function， and liver biopsy reexamination showed alleviation of sinusoidal congestion and hepatocyte regeneration. Self-resolving conjunctival hemorrhage occurred during treatment. This case suggests that for patients with contraindications to standard anticoagulation therapy or those showing no response to such treatment， low-dose defibrotide may be used as an effective and relatively safe alternative treatment regimen.

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 analyze the clinical efficacy of low temperature plasma radiofrequency ablation(RFA)combined with nasal irrigation in the treatment of allergic rhinitis(AR)with nasal septal deviation.Methods A total of 120 AR patients with nasal septal deviation who were diagnosed and treated in Taikang Xianlin Drum Tower Hospital from August 2018 to December 2022 were selected as research objects.They were assigned to observation group or control group according to random number table method,with 60 cases in each group.The control group received nasal irrigation,and the observation group received low temperature plasma RFA and nasal irrigation.The efficacy,immunity,inflammation,quality of life,safety and prognosis were compared between the two groups.Results The observation group had better curative effect than the control group(P<0.05).The natural killer(NK)cells were increased,and the levels of immunoglobulin G(IgE),thymic stromal lymphopoietin(TSLP),hypoxia-inducible factor-1(HIF-1)and fractional exhaled nitric oxide(FeNO)were decreased in both groups after treatment.The level of NK cells in the observation group was higher than that in the control group after treatment,and the levels of IgE,TSLP,HIF-1,and FeNO in the observation group were lower than those in the control group(P<0.05).After treatment,the rhinoconjunctivitis quality of life questionnaire(RQLQ)scores decreased in both groups,and the scores in the observation group were lower than those in the control group(P<0.05).There was no significant difference in safety between the two groups(P>0.05).The control group had higher recurrence rate than the observation group(P<0.05).Conclusion Low temperature plasma RFA combined with nasal irrigation can effectively improve the immune function and inflammation of AR patients with nasal septal deviation,thereby improving the efficacy and quality of life,and reducing the recurrence rate,with high safety.

Objective To evaluate the influencing factors of aspiration in neurological critically ill patients by Meta-analysis.Methods PubMed,Embase,Web of Science,CNKI,and Wanfang Data were searched from inception to 1 October,2023,to obtain relevant studies on influencing fac-tors of aspiration in neurological critically ill patients.The literature screening,data extraction and quality evaluation were completed by two researchers.RevMan 5.4 and Stata 13.0 software were ap-plied for pooled Meta-analysisand assessed publication bias,respectively.Results A total of 8 arti-cles,including 1,315 neurocritical care patients,were included in this study.Nine influencing factors related to aspiration were extracted for Meta-analysis.The Meta-analysis results showed that the three influencing factors that caused aspiration in neurocritical care patients were stroke history(OR=5.03,95％CI,2.71 to 9.32,P＜0.000 01),National Institutes of Health Stroke Scale(NIHSS)score＞10(OR=3.35,95％CI,1.75 to 6.42,P=0.000 3),and gastric residual volume＞150mL(OR=7.13,95％CI,2.55 to 9.96,P=0.001).Conclusion This study provides a scientific basis for clinical healthcare professionals to early identify high-risk patients for aspiration,take targeted inter-vention measures,and prevent the occurrence of aspiration.

Objective To explore the regulation of the phosphoinositide 3-kinase(PI3K)/protein kinase B(AKT)-mediated inflammatory response in chronic obstructive pulmonary disease(COPD)by modified Shengxian Decoction through the lung-gut axis.Methods Thirty rats were divided into three groups:Control group,COPD group,and COPD+modified Shengxian Decoction(SXT)group,with 10 rats in each.The COPD model was established using passive smoking combined with intratracheal instillation of lipopolysaccharide(LPS).General symptoms and signs of the rats were monitored during the modeling and intervention periods.Hematoxylin and eosin(HE)staining and immunohistochemistry(IHC)were used to observe lung tissue structure.Enzyme-linked immunosorbent assay(ELISA)was used to detect the levels of inflammatory cytokines interleukin-6(IL-6)and tumor necrosis factor-alpha(TNF-α)in lung tissues.Flow cytometry was used to detect the number of type Ⅱ innate lymphoid cells(nILC2)and type 2 innate lymphoid cells(iILC2)in lung and intestinal tissues.Illumina MiSeq sequencing technology was used to perform 16S rRNA gene sequencing on rat feces to analyze the gut microbiota structure.Gas chromatography-mass spectrometry(GC-MS)was used to determine the content of short-chain fatty acids(SCFAs)in rat feces.Western blotting was used to detect the expressions of related proteins in the PI3K/AKT pathway.Results Compared with the Control group,the COPD group showed significantly reduced lung function indicators,increased heart rate and decreased body mass,while the SXT group showed significant improvement in lung function and general signs(P＜0.05).HE staining showed that the COPD group had lung tissue damage filled with inflammatory cells,while the SXT group had significantly fewer inflammatory cells.IHC results showed that the SXT group had significantly reduced expression of caspase-3 protein(P＜0.05).ELISA results showed that the levels of IL-6 and TNF-α were significantly increased in the COPD group,while the SXT group showed significant improvement in inflammatory damage.The ratio of nILC2 to iILC2 in lung and intestinal tissues was significantly reduced in the COPD group,indicating a significant inflammatory response,while the SXT group showed significant improvement(P＜0.05).The levels of ILC2 cytokines IL-13 and IL-4 were significantly increased in the COPD group,while the SXT group had significantly reduced IL-13 and IL-4 levels.The relative abundance of lung and gut microbiota in the SXT group was significantly higher than that in the Control and COPD groups(P＜0.05).Beta diversity index analysis showed significant differences in species diversity among the three groups(P＜0.05).GC-MS detected six types of SCFAs in rat feces:acetic acid,propionic acid,isobutyric acid,butyric acid,isovaleric acid,and valeric acid.Their levels were lower in the COPD group than in the Control group,but the levels in the SXT group were higher than those in the COPD group.Western blotting results showed that the expressions of p-PI3K,PI3K,p-AKT,AKT,p-NF-κB,and NF-κB proteins were significantly reduced in the SXT group compared to the COPD group(P＜0.05).ELISA results showed that the SXT group had significantly downregulated expression levels of IL-1β and IL-10 compared to the COPD group(P＜0.05).Conclusion Modified Shengxian Decoction can alleviate COPD inflammation.It may mediate the inflammatory response in COPD by inhibiting iILC2 cell activity and expressions of related proteins in the PI3K/AKT signaling pathway through gut microbiota metabolism.

Objective To investigate the patterns of syndrome changes and their possible material basis in mouse models of chronic psychological stress during the modeling process.Methods A chronic unpredictable mild stress(CUMS)method was employed to prepare a model of chronic psychological stress in mice.After 2 weeks of modeling,Xiaoyao powder(XYS group)and Sini powder(SNS group)were administered concurrently with the modeling process.General conditions,behavioral,and biochemical indicators were compared between the modeling mice(M4 and M6 group)and the mice treated for 2 weeks(S4 and X4 group)and 4 weeks(S6 and X6 group)after chronic psychological stress.Results Compared with M4 group mice,body mass,total distance and central distance in the open field test,serum NE concentration,and gastric Ghrelin expression were increased in S4 group and X4 group mice,and sugar water preference rate and serum D-xylose concentration were increased in S4 group mice.Compared with X4 group mice,total distance in the open field test and serum D-xylose concentration were increased in the S4 group mice.Compared with M6 group mice,body mass,serum NE concentration,serum D-xylose concentration,and gastric Ghrelin expression were increased in group S6 and X6 group mice;sugar water preference rate,total distance in the open field test,and active avoidance counts in the shuttle box test were increased in X6 group mice,while their serum CORT concentration was decreased.Compared with S6 group mice,body mass,total distance in the open field test,serum D-xylose concentration,and gastric Ghrelin expression in X6 group mice were increased.Conclusions During the process of modeling chronic psychological stress in mice,the traditional Chinese medicine syndrome evolved from liver qi stagnation to liver qi stagnation with spleen deficiency.The biological bases of the syndrome changes may be the combined changes in serum CORT and NE concentrations and the decrease in gastric Ghrelin levels.

Objective To investigate the clinical and metabolic factors associated with the development and regression of metabolic dysfunction-associated fatty liver disease(MAFLD)in the physical examination population.Methods A retrospective observational study was conducted on 6 809 individuals who underwent physical examination in a physical examination institution in Beijing from December 2013 to December 2019,with a mean follow-up time of 52.1±13.5 months.According to the new diagnostic criteria for MAFLD,these individuals were divided into MAFLD group and non-MAFLD group,and the two groups were compared in terms of demographic indicators,body measurement indicators,and laboratory indicators at the first(baseline)and last physical examinations.The two-independent-samples t test was used for comparison of normally distributed continuous data between two groups,and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups;the chi-square test was used for comparison of categorical data.A Logistic regression analysis was used to investigate the impact of various observation indicators on the development and regression of MAFLD.Results In this study,there were 4 533 individuals(66.6%)in the non-MAFLD group at baseline,among whom 15.6%developed MAFLD at the last physical examination.Compared with the non-MAFLD population,the MAFLD population had significantly higher age(Z=-6.739),number of male patients(χ2=178.534),body weight(Z=-22.302),body mass index(BMI)(Z=-22.818),waist circumference(Z=-23.117),hip circumference(Z=-18.446),systolic blood pressure(SBP)(Z=-13.301),diastolic blood pressure(DBP)(Z=-13.491),fasting blood glucose(FBG)(Z=-11.787),triglyceride(TG)(Z=-16.623),low-density lipoprotein cholesterol(LDL-C)(Z=-10.256),alanine aminotransferase(ALT)(Z=-14.250),aspartate aminotransferase(AST)(Z=-7.481),and proportion of patients with metabolic syndrome(MetS)at baseline(χ2=185.283),and there were more patients with increases in body weight,waist circumference,hip circumference,TG,TC,ALT,and AST at the final physical examination(all P<0.05);these patients had a lower level of HDL-C at baseline(Z=15.416),and there were more patients with a reduction at the last physical examination(P<0.05).There were 2 276 individuals(33.4%)in the MAFLD group at baseline,among whom 23.8%showed regression of MAFLD at the last physical examination.Compared with the population without regression of MAFLD,the population with regression of MAFLD had a significantly younger age(Z=2.185),a significantly higher number of female patients(χ2=0.340),significantly lower levels of body weight(Z=-8.909),BMI(Z=-10.205),waist circumference(Z=-11.183),hip circumference(Z=-7.178),SBP(Z=-3.627),DBP(Z=-3.443),TG(Z=-5.945),ALT(Z=-9.664),and AST(Z=-5.904),and a significantly lower proportion of patients with MetS(χ2=42.082),and there were more patients with reductions in body weight,waist circumference,hip circumference,blood pressure,TG,TC,ALT,and AST at the final physical examination(all P<0.05);these patients had a higher level of HDL-C at baseline(Z=6.778),and there were more patients with an increase at the last physical examination(P<0.05).The multivariate Logistic regression analysis showed that sex and changes in body weight and HDL-C during physical examination were independently associated with the development and regression of MAFLD(all P<0.05).Conclusion There is a relatively high prevalence rate of MAFLD among the physical examination population in Beijing,with a higher proportion of male patients.There are significant metabolic disorders and liver function abnormalities,and changes in body weight and HDL-C are the most important predictive indicators for the development and regression of MAFLD.

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

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.