Objective To evaluate the relationship between the QRS duration(QRSd)of the first medical contact(FMC)and the 30-day clinical endpoint of acute ST-segment elevation myocardial infarction(STEMI).Methods A total of 547 STEMI patients were selected and divided into the QRSd＜100 ms group(306 cases)and the QRSd≥100 ms group(241 cases).Clinical data of the patients were collected,and electrocardiography(ECG)and cardiac ultrasound were evaluated according to the FMC examination results of patients.The starting point of the study was the postoperative day.Outpatient or telephone follow-up was performed after discharge until 30 days or death,the primary endpoint was major adverse cardiovascular events(MACE),which was defined as the composite endpoint of all-cause mortality,acute heart failure(AHF)and revascularization again,and the secondary endpoint was AHF.Kaplan-Meier curves were drawn to evaluate the incidence rates of MACE and AHF.QRSd was included in Cox regression with continuous variables and categorical variables to analyze influence factors of 30-day MACE and AHF in STEMI patients.The receiver operating characteristic(ROC)curve was used to evaluate the efficacy of QRSd in predicting 30 d MACE occurrence in STEMI patients.Results Compared with the QRSd＜100 ms group,HR was faster and the proportion of smoking history was lower in the QRSd≥100 ms group(P＜0.05).MACE occurred in 44 patients,including 11 in the QRSd＜100 ms group and 33 in the QRSd≥100 ms group.AHF occurred in 17 patients,including 2 patients in the QRSd＜100 ms group and 15 patients in the QRSd≥100 ms group.Kaplan-Meier survival analysis showed that the incidence of MACE and AHF were higher in the QRSd≥100 ms group than those in the QRSd＜100 ms group(P＜0.01).Multivariate Cox regression analysis showed that prolonged QRSd and QRSd≥100 ms were risk factors for MACE and AHF(P＜0.05).ROC curve results showed that the best cutoff value of QRSd for predicting MACE was 111 ms,the area under the curve(AUC)was 0.796(95%CI:0.710-0.881),the sensitivity was 0.75,and the specificity was 0.84.Conclusion Compared with QRSd＜100 ms,QRSd≥100 ms of the FMC can increase the risk of 30-day MACE and heart failure in patients with STEMI,and this risk increases with prolonged QRSd.

Objective To evaluate the relationship between the QRS duration(QRSd)of the first medical contact(FMC)and the 30-day clinical endpoint of acute ST-segment elevation myocardial infarction(STEMI).Methods A total of 547 STEMI patients were selected and divided into the QRSd＜100 ms group(306 cases)and the QRSd≥100 ms group(241 cases).Clinical data of the patients were collected,and electrocardiography(ECG)and cardiac ultrasound were evaluated according to the FMC examination results of patients.The starting point of the study was the postoperative day.Outpatient or telephone follow-up was performed after discharge until 30 days or death,the primary endpoint was major adverse cardiovascular events(MACE),which was defined as the composite endpoint of all-cause mortality,acute heart failure(AHF)and revascularization again,and the secondary endpoint was AHF.Kaplan-Meier curves were drawn to evaluate the incidence rates of MACE and AHF.QRSd was included in Cox regression with continuous variables and categorical variables to analyze influence factors of 30-day MACE and AHF in STEMI patients.The receiver operating characteristic(ROC)curve was used to evaluate the efficacy of QRSd in predicting 30 d MACE occurrence in STEMI patients.Results Compared with the QRSd＜100 ms group,HR was faster and the proportion of smoking history was lower in the QRSd≥100 ms group(P＜0.05).MACE occurred in 44 patients,including 11 in the QRSd＜100 ms group and 33 in the QRSd≥100 ms group.AHF occurred in 17 patients,including 2 patients in the QRSd＜100 ms group and 15 patients in the QRSd≥100 ms group.Kaplan-Meier survival analysis showed that the incidence of MACE and AHF were higher in the QRSd≥100 ms group than those in the QRSd＜100 ms group(P＜0.01).Multivariate Cox regression analysis showed that prolonged QRSd and QRSd≥100 ms were risk factors for MACE and AHF(P＜0.05).ROC curve results showed that the best cutoff value of QRSd for predicting MACE was 111 ms,the area under the curve(AUC)was 0.796(95%CI:0.710-0.881),the sensitivity was 0.75,and the specificity was 0.84.Conclusion Compared with QRSd＜100 ms,QRSd≥100 ms of the FMC can increase the risk of 30-day MACE and heart failure in patients with STEMI,and this risk increases with prolonged QRSd.

Objective Based on a novel type of cell death induced by disulfide stress,known as disulfidptosis,this study explores the role of long non-coding RNA(LncRNA)in gastric cancer and establishes a prognosis model re-lated to disulfidptosis,providing a new method for assessing the prognosis of gastric cancer treatment.Methods Transcriptomic data from gastric cancer and normal tissue samples were obtained from the public database TCGA,and disulfidptosis-related LncRNAs were selected through Pearson analysis and LASSO-Cox regression analysis.A relevant prognostic model for gastric cancer was constructed based on the above LncRNAs and validated by function-al enrichment analysis,tumour microenvironment and immune cell infiltration analysis,drug sensitivity analysis and quantitative reverse transcription PCR(RT-qPCR).Results In this study,400 disulfide death-associated LncR-NAs were identified and five of them were screened to construct a prognostic model for assessing the prognosis of gastric cancer patients.The models showed in validation that the survival of the high-risk score group was shorter than that of the low-risk score group(P＜0.05).In addition,the predictive ability of the prognostic model(AUC=0.725)was better than that based only on basic characteristics such as age and gender.The expression levels of disulfide death-associated LncRNAs differed between normal and gastric cancer tissues(P＜0.001).Conclusion The disulfidptosis-related LncRNA prognosis model developed in this study can effectively assess the prognosis of gastric cancer patients and the tumor microenvironment,providing potential targets and a theoretical basis for new immunotherapeutic strategies for gastric cancer.

Objective:To analyze the cognitive changes and alterations in the topological properties of functional and structural brain networks in elderly women with mild cognitive impairment (MCI), and explore the relationship between brain network and cognitive function, and find the neuroimaging mechanism of cognitive decline in female patients with MCI.Methods:A cross-sectional study was conducted, collecting clinical data from 38 elderly women with MCI, aged 60-79, recruited between October 1, 2019 and May 31, 2021, through community visits, online advertisements, free consultations by experts at the First Hospital of China Medical University and outpatient promotions. A matched control group of 37 healthy women of similar age was also recruited. Both groups underwent comprehensive neuropsychological assessments and MRI data collection, Brain functional and structural networks were constructed, and the corresponding global and nodal topological metrics were calculated. Differences in general demographic data, cognitive function scores, and network topology attribute indexes were compared. Pearson correlation analysis was used to explore the relationship between the altered topological properties of brain networks and cognitive function differences.Results:Cognitive function assessments showed that compared to the healthy control group, elderly women with MCI scored lower on the Rey Auditory Verbal Learning Test-N5 (AVLT-N5), Digit Span Test (DST), Clock Drawing Test (CDT), and Verbal Fluency Test (VFT) (1.95±1.02 vs 6.42±1.63, t=14.85; 7.14±1.58 vs 8.08±1.29, t=2.93; 3.30±1.12 vs 3.73±0.55, t=2.20; 15.49±3.87 vs 18.53±3.80, t=3.60; all P<0.05). The results of brain functional and structural network nodal topological properties indicated that the left inferior parietal angular gyri, left supramarginal gyrus, right orbital inferior frontal gyrus, and right insula showed incomplete white matter network structure or reduced efficiency in brain network functional transmission ( P<0.05). Conversely, regions such as the left cuneus, left superior frontal gyrus orbital part, left middle occipital gyrus, left precuneus, right superior parietal gyrus, and left paracentral lobule showed enhanced structural integrity of white matter network or increased efficiency in brain network functional transmission ( P<0.05). Correlation analysis suggested that abnormal nodal topological attributes were associated with language function (VFT), short-term memory (AVLT-N5), and visuospatial ability (CDT) in patients with MCI(All P<0.05). Conclusion:Elderly women with MCI exhibit declines in short-term memory, linguistic function, attention, and visuospatial abilities. Changes in the topological properties of brain function and structural networks occur in regions such as the orbital superior frontal gyrus, middle occipital gyrus, and cuneus in the elderly women.

Objective:To analyze the cognitive changes and alterations in the topological properties of functional and structural brain networks in elderly women with mild cognitive impairment (MCI), and explore the relationship between brain network and cognitive function, and find the neuroimaging mechanism of cognitive decline in female patients with MCI.Methods:A cross-sectional study was conducted, collecting clinical data from 38 elderly women with MCI, aged 60-79, recruited between October 1, 2019 and May 31, 2021, through community visits, online advertisements, free consultations by experts at the First Hospital of China Medical University and outpatient promotions. A matched control group of 37 healthy women of similar age was also recruited. Both groups underwent comprehensive neuropsychological assessments and MRI data collection, Brain functional and structural networks were constructed, and the corresponding global and nodal topological metrics were calculated. Differences in general demographic data, cognitive function scores, and network topology attribute indexes were compared. Pearson correlation analysis was used to explore the relationship between the altered topological properties of brain networks and cognitive function differences.Results:Cognitive function assessments showed that compared to the healthy control group, elderly women with MCI scored lower on the Rey Auditory Verbal Learning Test-N5 (AVLT-N5), Digit Span Test (DST), Clock Drawing Test (CDT), and Verbal Fluency Test (VFT) (1.95±1.02 vs 6.42±1.63, t=14.85; 7.14±1.58 vs 8.08±1.29, t=2.93; 3.30±1.12 vs 3.73±0.55, t=2.20; 15.49±3.87 vs 18.53±3.80, t=3.60; all P<0.05). The results of brain functional and structural network nodal topological properties indicated that the left inferior parietal angular gyri, left supramarginal gyrus, right orbital inferior frontal gyrus, and right insula showed incomplete white matter network structure or reduced efficiency in brain network functional transmission ( P<0.05). Conversely, regions such as the left cuneus, left superior frontal gyrus orbital part, left middle occipital gyrus, left precuneus, right superior parietal gyrus, and left paracentral lobule showed enhanced structural integrity of white matter network or increased efficiency in brain network functional transmission ( P<0.05). Correlation analysis suggested that abnormal nodal topological attributes were associated with language function (VFT), short-term memory (AVLT-N5), and visuospatial ability (CDT) in patients with MCI(All P<0.05). Conclusion:Elderly women with MCI exhibit declines in short-term memory, linguistic function, attention, and visuospatial abilities. Changes in the topological properties of brain function and structural networks occur in regions such as the orbital superior frontal gyrus, middle occipital gyrus, and cuneus in the elderly women.

OBJECTIVE: To explore the clinical feature, diagnosis and phenotype of Majeed syndrome. METHODS: Clinical manifestation, diagnostic process, imaging feature and genetic testing of an ethnic Han Chinese patient with Majeed syndrome were reviewed. RESULTS: The patient, a 3-year-9-month-old boy, had featured psychomotor retardation and developed bone pain from 8 month on. The child had tenderness of the lower limbs and presented with repeatedly joint swelling and pain accompanied by fever. Physical signs included limb muscle weakening, slightly decreased muscle tone, reduced muscle volume and positive Gower sign. High-throughput sequencing revealed that the child has carried compound heterozygous variants of the LPIN2 gene, including c.1966A>G and c.2534delG. MRI showed multiple lesions in bilateral knee joints and distal middle tibia presenting as patchy SPAIR high signals with unclear edge, in addition with edema of soft tissue surrounding the right distal femur. CONCLUSION Majeed syndrome is characterized by chronic and recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and growth retardation. Surrounding muscle tissue of osteomyelitis may also be involved. The syndrome may also affect the central nervous system, resulting in delayed language and motor development. Discovery of multiple pathological variants of the LPIN2 gene suggested that the clinical phenotype of this syndrome may vary between patients to some extent.
Anemia, Dyserythropoietic, Congenital/genetics* ; Child ; Genetic Testing ; Humans ; Immunologic Deficiency Syndromes/genetics* ; Infant ; Male ; Osteomyelitis/genetics*

Objective:To compare the prognostic accuracy of 16 pre-transplant scoring models in predicting the post-transplant short-term outcome of patients with hepatitis B-related acute-on-chronic liver failure (HBACLF), and to explore an efficient predictive model.Methods:A retrospective analysis of the clinical data of HBACLF patients who underwent liver transplantation at the Liver Transplant Center of Beijing Youan Hospital from August 2004 to September 2014. Score of 16 models (CTP, UNOS-MELD, Updated-MELD, Integrated-MELD, MELD-Na, MLED Na, CLIF-SOFA, CLIF-OFs, CLIF-C ACLFs, CLIF-C ADs, Refit MELD, Refit MELD Na, MELD-AS, Zheng's Risk, UKELD, MESO) was based on time-dependent operation characteristic curve, and the area under the curve (AUC) was calculated to evaluate the prediction accuracy of 3-month survival after transplantation. Selection of univariate factors associated with postoperative short-term mortality was performed, and then 16 scoring models one by one with statistically significant mortality-related factors were entered into LASSO regression (Least Absolute Shrinkage and Selection Operator regression) to confirm the independent variables. Finally, a predictive model was constructed by Cox regression.Results:A total of 135 patients were included in this study, including 106 males and 29 females, aged (45.0±10.5) years old. Among the 16 scoring models, the AUC of MELD-Na and CLIF-SOFA were more than 0.7 in early survival prediction after liver transplant. The MELD-Na was confirmed as an independent predictive variable in the final model with univariate and LASSO regression multivariate selection analysis ( HR=1.0481, 95% CI: 1.0136-1.0838, P<0.05). The model was constructed by MELD-Na and combined with other clinical parameters (female, systemic infection, placement of T tube during operation) could better predict the early survival after liver transplant. The overall C-index of the final model was 0.886, and the C-index at 3-month after liver transplant was 0.844 through internal validation (Bootstrap). Conclusion:Compared with other scoring models, MELD-Na and CLIF-SOFA were better for early survival prediction after liver transplantation for patients with HBACLF. The constructed predictive model based on MELD-Na was superior than single MELD-Na or CLIF-SOFA in prognostic assessment and case selection.

OBJECTIVE: To summarize the clinical phenotype and genotype of a Chinese child affected with Mowat-Wilson syndrome (MWS). METHODS: Clinical data of the patient were collected. The patient was analyzed by whole-exome sequencing (WES) as well as Sanger sequencing. RESULTS: The patient was a male infant with recurrent fever and slow growth. He also had characteristic facies, recurrent spasm, and growth retardation. WES revealed that he has carried a heterozygous nonsense c.2609C>G (p.Ser870X) variant of the ZEB2 gene (30% mosaicism). Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+PS1+PS2+PM2). CONCLUSION The c.2609C>G variant of the ZEB2 gene probably underlay the MWS in this child. The mosaicism of the variant may explain his mild symptoms.
Child ; Facies ; Hirschsprung Disease/genetics* ; Humans ; Infant ; Intellectual Disability/genetics* ; Male ; Microcephaly/genetics* ; Mutation

Objective To study the impact of splenectomy and devascularization on liver function and liver fibrosis in patients with non-cirrhotic portal hypertension (NCPH). Methods The clinical data of patients with NCPH who were treated in Beijing You'an Hospital of Capital Medical University from April 2008 to December 2017 were retrospectively analyzed. The patients were divided into the observation group (n=16 ) and the control group ( n =30 ) according to their treatment methods. The observation group underwent splenectomy combined with devascularization, while the control group received conservative treatment. The changes in liver function, ascites, varicose vein rupture and bleeding before and after treat-ment, and the changes in liver blood flow before and after treatment in the observation group were compared. Results The before and after treatment of the 2 groups in ALT, AST, total bilirubin, albumin showed no statistically significant difference (P＞0. 05). Six months after treatment, the rates of ascites and bleeding were significantly higher than the observation group, (P＜0. 05). Ten patients who had a history of preoper-ative variceal hemorrhage in the observation group did not bleed within 6 months after treatment. Further-more, in the observation group after treatment when compared with the control group, the PC-Ⅲ [(32. 3 ± 12. 1) g/L vs. (56. 7 ± 15. 3)g/L],Ⅵ-C [(46. 6 ± 35. 0) g/L vs. (121. 3 ± 30. 4)g/L], LN [(32. 5 ± 10. 5) g/L vs. (65. 8 ± 11. 1) g/L] were significantly lower than the control group ( P ＜0. 05). The preoperative portal venous blood flow in the observation group was significantly higher than that after surgery [(1 056. 8 ± 679. 8) ml/min vs. (481. 0 ± 227. 6) ml/min, P＜0. 05]. Conclusion Splenectomy and devascularization effectively stopped variceal bleeding and delayed liver fibrosis in NCPH patients without affecting the liver function.

Objective To study the value of preoperative MELD-Na score (Model for End-Stage Liver Disease-Sodium) in predicting complication severity grades after liver transplantation (LT) for severe hepatitis.Methods Patients who underwent LT for severe hepatitis between August 1,2004,and September 1,2014 were retrospectively studied.The Accordion severity grading system was used to classify the complication severity grades after LT.The grades were classified as grade 1 (mild),grade 2 (moderate),grade 3-5 (severe),and grade 6 (death).The area under the curve (AUC) was calculated by plotting the receiver operating characteristic curve (ROC) to evaluate the predictive accuracy of the MELD-Na score for the severe and mortality grades after LT.The correlation between the MELD-Na score with the complication severity grade after LT was studied by the Spearman correlation and by multivariate analysis.Results The incidences of postoperative complications for the 159 patients in this study were:grade 2 in 43 patients (27.0％,MELD-Na score 27.3 ±7.4),grade 3 in 41 patients (25.8％,MELD-Na score 32.7 ± 12.4),grade 4 in 31 patients (19.5％,MELD-Na score 34.3 ± 12.1),grade 5 in 9 patients (5.7％,MELD-Na score 30.7 ± 12.3),grade 6 in 35 patients (22％,MELD-Na score 37.1 ± 10.4).There was no grade 1 patient.The AUC of the MELD-Na score for the severe and death groups were 0.631 (P ＜ 0.05;95 ％ CI,0.533 ～ 0.728) and 0.670 (P ＜ 0.05;95 ％ CI,0.574 ～ 0.766) respectively.The MELD-Na score was significantly correlated with the Accordion severity grade (rho 0.297,P ＜ 0.01) on Spearman correlation analysis.Multivariate analysis showed that a MELD-Na score ≥25 was a risk factor of postoperative severe grade complication (P ＜ 0.05,OR =4.35),a MELD-Na score ≥35 was a risk factor of postoperative mortality (P ＜0.01,HR =4.72).Conclusion The MELD-Na score was significantly correlated with the Accordion severity grade,which efficaciously predicted the complication severity grades after liver transplantation.