Objective:To observe the effect of high-frequency repetitive transcranial magnetic stimulation (rTMS) at different frequencies on cognitive impairment due to high-altitude hypoxia.Methods:Sixty officers and soldiers displaying cognitive impairment in a hypoxic high-altitude environment were randomly divided into 15Hz, 20Hz and 25Hz groups, each of 20. They were given rTMS at those frequencies for 30 days. Before the stimulation and after 15 and 30 days, event-related potentials, latencies of mismatched negativity (MMN) and P300 signals were recorded. The participants′ cognition was also evaluated using the Montreal Cognitive Assessment Scale (MoCA). Correlation between the electrophysiological indexes and the MoCA scores was computed.Results:After 15 days, all had shorter MMN latencies, higher total MoCA scores and better memory scores. The only significant difference among the three groups was in the average memory scores. After 15 days, MMN latency was significantly negatively correlated with the memory scores in all three groups ( r=0.44 to -0.54). Conclusions:rTMS at frequencies above 15Hz can effectively relieve cognitive impairment, especially memory dysfunction, resulting from high-altitude hypoxia.

Objective To observe the clinical and echocardiographic manifestations of Williams syndrome(WS).Methods Two children with WS were retrospectively enrolled,and 21 cases of WS in literature were reviewed,and clinical and echocardiographic manifestations of WS were observed.Results Clinical manifestations of 23 cases including 21 cases of"elf"face,8 cases of intellectual disability,7 cases of developmental delay,7 cases of inguinal hernia,6 cases of hypothyroidism,4 cases of hypercalcemia,3 cases of urinary system abnormalities(1 case of hydrocele,1 case of ureteral dilation and tortuosity,and 1 case of kidney stones),2 cases of behavioral abnormalities,2 cases of feeding difficulties,1 case of congenital hypertrophic pyloric stenosis,1 case of binocular esotropia,1 case of hyperbilirubinemia,and 1 case of corpus callosum dysplasia.Echocardiography showed cardiovascular malformations in all 23 cases,including 20 cases of supravalvular aortic stenosis(SVAS),18 cases of pulmonary artery stenosis(PAS)and 10 cases of other cardiovascular malformations.Conclusion WS presented multiple system abnormalities in clinic,and cardiovascular malformations,especially SVAS and PAS could often be detected with echocardiography.

Objective:This study aims to develop a rapid identification technique for various genotypes of extended-spectrum β-lactamase (ESBL) producing Escherichia coli using matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS) in conjunction with machine learning algorithms. Methods:A total of 158 Escherichia coli strains were isolated from the clinical laboratory of the First Hospital of Jilin University from August 2018 to December 2022. Polymerase chain reaction (PCR) was employed to detect the CTX-M-1, CTX-M-8, CTX-M-9, and SHV genes. Mass spectral data of the bacterial strains were acquired by MALDI-TOF MS with a cooperative matrix of (E)-propyl α-cyano-4-hydroxycinnamate (CHCA-C3). Models based on random forest (RF), logistic regression (LR), and support vector machine (SVM) algorithms were constructed. The performance of the constructed models was evaluated using metrics including accuracy, sensitivity, specificity, and the area under the receiver operating characteristic curve (AUC). Mass spectral peaks exhibiting sensitivity and specificity exceeding 80% in the models were designated as characteristic peaks. To validate the efficacy of the cooperative matrix of CHCA-C3, clinical isolates of ESBL-producing Escherichia coli were analyzed by MALDI-TOF MS using the conventional CHCA matrix for comparative purposes. Results:Among the 158 strains of Escherichia coli, 91 strains produced ESBL, all of which were CTX-M genotype. The AUC values for the respective models were as follows: CTX-M-1 genotype exhibited AUC values of 0.98 for LR, 1.00 for RF, and 0.73 for SVM; CTX-M-9 genotype exhibited AUC values of 0.93 for LR, 0.99 for RF, and 0.76 for SVM; for CTX-M-8, all models achieved an AUC of 1.00, indicating excellent classification performance with respect to accuracy, specificity, and sensitivity. The characteristic mass spectral peaks associated with each genotype included: CTX-M-1 genotype at m/z 6 390; CTX-M-8 genotype at m/z 5 224, m/z 5 393, and m/z 9 021; CTX-M-9 genotype at m/z 5 161 and m/z 5 273. In the MALDI-TOF MS analysis conducted with the conventional CHCA matrix, the characteristic peak at m/z 9 021 for CTX-M-8 was the only one detected, with the characteristic peaks for CTX-M-1 and CTX-M-9 remaining undetected. Conclusion:The application of cooperative matrix of CHCA-C3 in conjunction with MALDI-TOF MS and machine learning algorithms facilitates the rapid and precise identification of extended-spectrum β-lactamase (ESBL)-producing Escherichia coli. This approach offers a feasible solution for evidence-based clinical therapy and the control of healthcare-associated infections.

Objective:To analyze the echocardiographic and genetic characteristics of fetuses with common arterial trunk（CAT）.Methods:A retrospective analysis was conducted on 77 480 fetal echocardiograms examined at the Maternal-Fetal Medicine center in Fetal Heart Disease of Beijing Anzhen Hospital from November 2010 to November 2024.Among them，106 fetuses were initially diagnosed with CAT，and 95 cases were ultimately confirmed（0.1%，95/77 480）. The echocardiographic and genetic features of CAT fetuses were analyzed. According to the modified Van Praagh classification，CAT was divided into types A1-A4［with ventricular septal defect（VSD）］and B1-B4（without VSD）based on the origin of the pulmonary artery branches and the presence or absence of a VSD. Additionally，CAT was categorized into isolated and complex types based on the presence of associated intracardiac or extracardiac anomalies.Results:① Among the 95 confirmed CAT fetuses，type A accounted for 90.5%（86/95），and type B accounted for 9.5%（9/95）. All 9 type B CAT fetuses exhibited no overriding of the arterial trunk ， with 8 cases showing left ventricular hypoplasia accompanied by mitral atresia or absence.② Of the 95 CAT fetuses，14 were isolated（14.7%，14/95） ， and 81 were complex（85.3%，81/95）.The main associated intracardiac anomalies included：single ventricle（22 cases），complete atrioventricular septal defect（12 cases），anomalous pulmonary venous drainage（10 cases），right aortic arch with mirror-image branching（16 cases），and persistent left superior vena cava（14 cases）. ③ Genetic testing was performed in 31 fetuses，with 18 showing positive results，primarily 22q11.21 deletion syndrome（29.0%，9/31）. Conclusions:Apart from VSD，the most common intracardiac anomaly associated with CAT fetuses is single ventricle. Type B CAT without trunk overriding is often associated with left ventricular hypoplasia and mitral atresia or absence. The most frequent genetic abnormality in CAT fetuses is 22q11.21 deletion syndrome. Prenatal echocardiography should clarify the CAT subtype and associated anomalies，and genetic testing is strongly recommended for perinatal counseling and prognostic evaluation.

Objective To investigate the expression and clinical significance of serum cystatin SA(Cystatin SA)and long non-coding RNA(lncRNA)promoter of CDKN1A antisense DNA damage activated RNA(PANDAR)in patients with type 2 dia-betic kidney disease(T2DN).Method A total of 142 patients with type 2 diabetes mellitus(T2DM)admitted to Shanghai Jiao Tong University School of Medicine Suzhou Jiulong Hospital from February 2021 to October 2023 were selected.According to whether they had nephropathy,they were divided into T2DN group(n=82)and non-T2DN group(n=60).60 healthy people who underwent physical examination during the same period were used as the control group.Serum Cystatin SA levels were detected by enzyme-linked immunosorbent assay(ELISA).Serum lncRNA PANDAR level was detected by real-time fluorescence quanti-tative PCR.Pearson correlation analysis was used to analyze the correlation between serum Cystatin SA,lncRNA PANDAR and clinical parameters in T2DN patients.Logistic regression analysis was used to analyze the influencing factors of T2 DN.The re-ceiver operating characteristic(ROC)curve was used to analyze the value of serum Cystatin SA and lncRNA PANDAR in the evaluation of T2DN.Results Serum Cystatin SA(236.28±44.63 ng/L)and serum lncRNA PANDAR(3.21±0.34)in the T2DM group were higher than those in the control group(91.25±22.33 ng/L,1.06±0.23),and the differences were statistically significant(t=23.127,42.379,all P<0.001).Serum Cystatin SA(275.08±46.83 ng/L)and lncRNA PANDAR(3.64±0.38)in T2DN group were higher than those in non-T2DN group(183.25±40.88 ng/L,2.62±0.30),and the differences were statistically significant(t=12.169,17.226,all P<0.001).Serum Cystatin SA and lncRNA PANDAR in T2DN patients were positively correlat-ed with diabetes duration,serum creatinine(sCr),blood urea nitrogen(BUN)and UACR(r=0.562～0.750,all P<0.001),and neg-atively correlated with eGFR(r=-0.656,-0.634,all P<0.001).Serum Cystatin SA,lncRNA PANDAR,duration of diabetes,UACR,sCr were risk factors for T2DN,eGFR was a protective factor(Wald χ2=4.257～12.360,all P<0.001).The area under the curve(AUC)of serum Cystatin SA combined with lncRNA PANDAR in predicting T2DN was 0.920(0.899～0.960),which was greater than that of single index[0.847(0.791～0.887),0.851(0.803～0.896)],and the differences were statistically significant(Z=4.522,4.319,all P<0.05).Conclusion Serum Cystatin SA and lncRNA PANDAR are elevated in patients with T2DN,which are related to renal function indexes and are risk factors affecting the occurrence of T2DN.The combination of the two can effec-tively evaluate the occurrence of T2DN.

Objective:To observe the effect of high-frequency repetitive transcranial magnetic stimulation (rTMS) at different frequencies on cognitive impairment due to high-altitude hypoxia.Methods:Sixty officers and soldiers displaying cognitive impairment in a hypoxic high-altitude environment were randomly divided into 15Hz, 20Hz and 25Hz groups, each of 20. They were given rTMS at those frequencies for 30 days. Before the stimulation and after 15 and 30 days, event-related potentials, latencies of mismatched negativity (MMN) and P300 signals were recorded. The participants′ cognition was also evaluated using the Montreal Cognitive Assessment Scale (MoCA). Correlation between the electrophysiological indexes and the MoCA scores was computed.Results:After 15 days, all had shorter MMN latencies, higher total MoCA scores and better memory scores. The only significant difference among the three groups was in the average memory scores. After 15 days, MMN latency was significantly negatively correlated with the memory scores in all three groups ( r=0.44 to -0.54). Conclusions:rTMS at frequencies above 15Hz can effectively relieve cognitive impairment, especially memory dysfunction, resulting from high-altitude hypoxia.

Objective To observe the clinical and echocardiographic manifestations of Williams syndrome(WS).Methods Two children with WS were retrospectively enrolled,and 21 cases of WS in literature were reviewed,and clinical and echocardiographic manifestations of WS were observed.Results Clinical manifestations of 23 cases including 21 cases of"elf"face,8 cases of intellectual disability,7 cases of developmental delay,7 cases of inguinal hernia,6 cases of hypothyroidism,4 cases of hypercalcemia,3 cases of urinary system abnormalities(1 case of hydrocele,1 case of ureteral dilation and tortuosity,and 1 case of kidney stones),2 cases of behavioral abnormalities,2 cases of feeding difficulties,1 case of congenital hypertrophic pyloric stenosis,1 case of binocular esotropia,1 case of hyperbilirubinemia,and 1 case of corpus callosum dysplasia.Echocardiography showed cardiovascular malformations in all 23 cases,including 20 cases of supravalvular aortic stenosis(SVAS),18 cases of pulmonary artery stenosis(PAS)and 10 cases of other cardiovascular malformations.Conclusion WS presented multiple system abnormalities in clinic,and cardiovascular malformations,especially SVAS and PAS could often be detected with echocardiography.

Objective To investigate the expression and clinical significance of serum cystatin SA(Cystatin SA)and long non-coding RNA(lncRNA)promoter of CDKN1A antisense DNA damage activated RNA(PANDAR)in patients with type 2 dia-betic kidney disease(T2DN).Method A total of 142 patients with type 2 diabetes mellitus(T2DM)admitted to Shanghai Jiao Tong University School of Medicine Suzhou Jiulong Hospital from February 2021 to October 2023 were selected.According to whether they had nephropathy,they were divided into T2DN group(n=82)and non-T2DN group(n=60).60 healthy people who underwent physical examination during the same period were used as the control group.Serum Cystatin SA levels were detected by enzyme-linked immunosorbent assay(ELISA).Serum lncRNA PANDAR level was detected by real-time fluorescence quanti-tative PCR.Pearson correlation analysis was used to analyze the correlation between serum Cystatin SA,lncRNA PANDAR and clinical parameters in T2DN patients.Logistic regression analysis was used to analyze the influencing factors of T2 DN.The re-ceiver operating characteristic(ROC)curve was used to analyze the value of serum Cystatin SA and lncRNA PANDAR in the evaluation of T2DN.Results Serum Cystatin SA(236.28±44.63 ng/L)and serum lncRNA PANDAR(3.21±0.34)in the T2DM group were higher than those in the control group(91.25±22.33 ng/L,1.06±0.23),and the differences were statistically significant(t=23.127,42.379,all P<0.001).Serum Cystatin SA(275.08±46.83 ng/L)and lncRNA PANDAR(3.64±0.38)in T2DN group were higher than those in non-T2DN group(183.25±40.88 ng/L,2.62±0.30),and the differences were statistically significant(t=12.169,17.226,all P<0.001).Serum Cystatin SA and lncRNA PANDAR in T2DN patients were positively correlat-ed with diabetes duration,serum creatinine(sCr),blood urea nitrogen(BUN)and UACR(r=0.562～0.750,all P<0.001),and neg-atively correlated with eGFR(r=-0.656,-0.634,all P<0.001).Serum Cystatin SA,lncRNA PANDAR,duration of diabetes,UACR,sCr were risk factors for T2DN,eGFR was a protective factor(Wald χ2=4.257～12.360,all P<0.001).The area under the curve(AUC)of serum Cystatin SA combined with lncRNA PANDAR in predicting T2DN was 0.920(0.899～0.960),which was greater than that of single index[0.847(0.791～0.887),0.851(0.803～0.896)],and the differences were statistically significant(Z=4.522,4.319,all P<0.05).Conclusion Serum Cystatin SA and lncRNA PANDAR are elevated in patients with T2DN,which are related to renal function indexes and are risk factors affecting the occurrence of T2DN.The combination of the two can effec-tively evaluate the occurrence of T2DN.

Objective:This study aims to develop a rapid identification technique for various genotypes of extended-spectrum β-lactamase (ESBL) producing Escherichia coli using matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS) in conjunction with machine learning algorithms. Methods:A total of 158 Escherichia coli strains were isolated from the clinical laboratory of the First Hospital of Jilin University from August 2018 to December 2022. Polymerase chain reaction (PCR) was employed to detect the CTX-M-1, CTX-M-8, CTX-M-9, and SHV genes. Mass spectral data of the bacterial strains were acquired by MALDI-TOF MS with a cooperative matrix of (E)-propyl α-cyano-4-hydroxycinnamate (CHCA-C3). Models based on random forest (RF), logistic regression (LR), and support vector machine (SVM) algorithms were constructed. The performance of the constructed models was evaluated using metrics including accuracy, sensitivity, specificity, and the area under the receiver operating characteristic curve (AUC). Mass spectral peaks exhibiting sensitivity and specificity exceeding 80% in the models were designated as characteristic peaks. To validate the efficacy of the cooperative matrix of CHCA-C3, clinical isolates of ESBL-producing Escherichia coli were analyzed by MALDI-TOF MS using the conventional CHCA matrix for comparative purposes. Results:Among the 158 strains of Escherichia coli, 91 strains produced ESBL, all of which were CTX-M genotype. The AUC values for the respective models were as follows: CTX-M-1 genotype exhibited AUC values of 0.98 for LR, 1.00 for RF, and 0.73 for SVM; CTX-M-9 genotype exhibited AUC values of 0.93 for LR, 0.99 for RF, and 0.76 for SVM; for CTX-M-8, all models achieved an AUC of 1.00, indicating excellent classification performance with respect to accuracy, specificity, and sensitivity. The characteristic mass spectral peaks associated with each genotype included: CTX-M-1 genotype at m/z 6 390; CTX-M-8 genotype at m/z 5 224, m/z 5 393, and m/z 9 021; CTX-M-9 genotype at m/z 5 161 and m/z 5 273. In the MALDI-TOF MS analysis conducted with the conventional CHCA matrix, the characteristic peak at m/z 9 021 for CTX-M-8 was the only one detected, with the characteristic peaks for CTX-M-1 and CTX-M-9 remaining undetected. Conclusion:The application of cooperative matrix of CHCA-C3 in conjunction with MALDI-TOF MS and machine learning algorithms facilitates the rapid and precise identification of extended-spectrum β-lactamase (ESBL)-producing Escherichia coli. This approach offers a feasible solution for evidence-based clinical therapy and the control of healthcare-associated infections.

Objective:To analyze the echocardiographic and genetic characteristics of fetuses with common arterial trunk（CAT）.Methods:A retrospective analysis was conducted on 77 480 fetal echocardiograms examined at the Maternal-Fetal Medicine center in Fetal Heart Disease of Beijing Anzhen Hospital from November 2010 to November 2024.Among them，106 fetuses were initially diagnosed with CAT，and 95 cases were ultimately confirmed（0.1%，95/77 480）. The echocardiographic and genetic features of CAT fetuses were analyzed. According to the modified Van Praagh classification，CAT was divided into types A1-A4［with ventricular septal defect（VSD）］and B1-B4（without VSD）based on the origin of the pulmonary artery branches and the presence or absence of a VSD. Additionally，CAT was categorized into isolated and complex types based on the presence of associated intracardiac or extracardiac anomalies.Results:① Among the 95 confirmed CAT fetuses，type A accounted for 90.5%（86/95），and type B accounted for 9.5%（9/95）. All 9 type B CAT fetuses exhibited no overriding of the arterial trunk ， with 8 cases showing left ventricular hypoplasia accompanied by mitral atresia or absence.② Of the 95 CAT fetuses，14 were isolated（14.7%，14/95） ， and 81 were complex（85.3%，81/95）.The main associated intracardiac anomalies included：single ventricle（22 cases），complete atrioventricular septal defect（12 cases），anomalous pulmonary venous drainage（10 cases），right aortic arch with mirror-image branching（16 cases），and persistent left superior vena cava（14 cases）. ③ Genetic testing was performed in 31 fetuses，with 18 showing positive results，primarily 22q11.21 deletion syndrome（29.0%，9/31）. Conclusions:Apart from VSD，the most common intracardiac anomaly associated with CAT fetuses is single ventricle. Type B CAT without trunk overriding is often associated with left ventricular hypoplasia and mitral atresia or absence. The most frequent genetic abnormality in CAT fetuses is 22q11.21 deletion syndrome. Prenatal echocardiography should clarify the CAT subtype and associated anomalies，and genetic testing is strongly recommended for perinatal counseling and prognostic evaluation.