OBJECTIVE To investigate the relationship between 23-site chip genetic screening failures and the results of newborns hearing screening,and to provide clinical reference for the diagnosis and treatment of genetic screening failures.METHODS There were 1 916 newborns born in the Beijing area from November 2022 to May 2024,who did not pass the 23-site chip genetic screening tests and underwent newborn hearing screening with definite initial screening results.Chi-square test was used to analyze the relationship between different mutation types and genotypes and the initial hearing screening results.RESULTS The overall neonatal hearing screening failure rate was 5.27%(101/1 916),with a higher failure rate of 61.54%(56/91)for homozygous and compound heterozygous mutations than the failure rate of 2.54%(45/1 772)for heterozygous mutations,0%(0/34)for digenic gene heterozygous mutations,and 0(0/19)for mtDNA 12S rRNA mutations,with a statistically significant difference(P<0.001).Among the homozygous and compound heterozygous mutations,the failure rates of homozygous and compound heterozygous for GJB2 gene and SLC26A4 gene were 59.76%(49/82)and 77.78%(7/9),respectively,with no statistically significant difference between the two groups(P=0.488).The homozygous and compound heterozygous for GJB2 gene were divided into three groups based on genotype:c.109G>A homozygous mutations,c.109G>A compound heterozygous mutations,and other homozygous and compound heterozygous mutations.The hearing screening failure rates of the three groups,from highest to lowest,were as follow:other homozygous and compound heterozygous mutations(88.89%,8/9),c.109G>A homozygous mutations(65.12%,28/43),and c.109G>A compound heterozygous mutations(43.33%,13/30),with a statistically significant difference(P=0.029).The failure rates of heterozygous for GJB2 gene,SLC26A4 gene and GJB3 gene were 2.86%(40/1 398),1.25%(4/321)and 1.89%(1/53),respectively,with no statistically significant difference among the three groups(P=0.241).The failure rate of hearing screening for individuals with GJB2 heterozygotes of different genotypes and individuals with SLC26A4 heterozygotes of different genotypes did not show statistically significant differences.CONCLUSION The failure rate of newborn hearing screening for homozygous and compound heterozygous mutation of 23-site chip genetic screening is higher than that of other mutation types,verifying the effectiveness of the newborn hearing screening program.Some newborns of homozygous and compound heterozygous mutation can pass the hearing screening,especially those with the c.109G>A homozygous and compound heterozygous mutation,who need clinical follow-up.

Objective: To discover molecular markers associated with lung adenocarcinoma diagnosis/prognosis and drug resistance through screening of differentially expressed genes based on published chip data in gene expression databases using bioinformatics methods. Methods: Comprehensive analysis was performed in available mRNA microarray datasets including lung adenocarcinoma tissues dataset GSE32863 and lung adenocarcinoma taxane-platin resistance dataset GSE77209 from the gene expression omnibus(GEO) database. Gene ontology enrichment analysis, gene pathway enrichment analysis and protein interaction network analysis were performed based on significantly correlated genes. The expression level of genes was validated in the cancer genome atlas(TCGA) dataset. Survival differences were assessed by the log-rank test in TCGA lung adenocarcinoma dataset. Based on the publications genomics of drug sensitivity in cancer(GDSC) database in CellMiner cross database(CellMiner CDB), Pearson correlation analysis was used to analyze the correlation between differentially expressed genes and the half-maximal inhibitory concentration(IC50) of anticancer drugs. Results : There were a total of 77 genes which had a different expression in resistance lung adenocarcinoma cells and lung adenocarcinoma cancer tissues. The functional enrichment analysis showed that these co-different expression genes were mainly enriched in microtubule, extracellular exosome, cell cycle and signaling by nuclear receptors. Protein-protein interactions(PPI) network screened 6 most connected genes as molecular complex(MCODE). Among the MCODE, overexpressed ubiquitin conjugating enzyme E2 T(UBE2T), kinesin family member 20A(KIF20A), PCNA clamp associated factor(KIAA0101), pituitary tumor-transforming gene 1(PTTG1) and NIMA related kinase 2(NEK2) were associated with poor outcomes. Survival analysis results showed that these five genes were upregulated in lung adenocarcinoma tissues and drug-resistant cells and were significantly associated with poor prognosis in lung adenocarcinoma patients. Drug sensitivity analysis results suggested that high expression of PTTG1 and UBE2T was significantly associated with sensitivity to multiple anticancer drugs, including paclitaxel and docetaxel. RT-PCR validation showed that PTTG1 andUBE2T were highly expressed in docetaxel-resistant cells A549-TXR and H358-TXR. Conclusion PTTG1 andUBE2T holds the potential to be chemoresistance markers in lung adenocarcinoma.

[Objective] To compare the efficacy and safety of deglycerolized red blood cells (DRBC) and suspended red blood cells (SRBC) based on the propensity score matching (PSM) method, so as to provide evidence for the rational use of DRBC resources in clinical practice. [Methods] A total of 89 patients who received DRBC transfusion and 2 916 patients who received SRBC transfusion in our hospital from January 2023 to September 2024 were included. A 1∶1 nearest neighbor PSM was used to balance covariates such as gender, age, and body mass index (BMI). The changes of hemoglobin (Hb), red blood cell (RBC) count, hematocrit (HCT), and inflammatory markers such as white blood cell (WBC) count, neutrophil (NE) count, C-reactive protein (CRP), and Interleukin-6(IL-6) in the last 72 hours after transfusion were analyzed by SPSS 26.0 and R software to evaluate clinical efficacy and transfusion safety. [Results] The baseline of the two groups was balanced after PSM (P>0.05). There was no significant difference in the total effective rate between the DRBC group (80.9%) and the SRBC group (86.5%) (P>0.05). In the SRBC group, WBC (×10 /L) increased from 9.634±6.742 to 10.147±6.835, CRP (mg/dL) increased from 5.468±4.647 to 6.174±6.114, and IL-6(pg/mL) decreased from 213.733±587.191 to 157.255±552.626. In the DRBC group, WBC (×10 /L) decreased from 11.123±7.880 to 11.011±8.549, CRP (mg/dL) decreased from 5.729±4.761 to 5.326±4.466, and IL-6(pg/mL) decreased from 238.806±639.060 to 152.255±266.558. Compared with the before treatment, the differences between the SRBC group and DRBC group were not statistically significant (P>0.05). Among all patients included in the statistics, the overall incidence of transfusion adverse reactions was 0.205% (6/2 916) in the SRBC group, and no adverse reactions occurred in the DRBC group. The incidence in the SRBC group was higher than that in the DRBC group. [Conclusion] Based on PSM analysis, there was no significant difference in the efficacy and safety of DRBC transfusion compared with SRBC transfusion, which can provide evidence-based support for routine application.

Objective:To explore the clinical efficacy of laparoscopic left hemi-fundoplica-tion for gastroesophageal reflux disease (GERD).Method:The retrospective and descriptive study was conducted. The clinical data of 45 patients with GERD who were admitted to Hebei Provincial Hospital of Traditional Chinese Medicine from July 2019 to July 2022 were collected. There were 26 males and 19 females, aged (46±12) years. All patients underwent laparoscopic left hemi-fundoplication. Observation indicators: (1) intraoperative and postoperative conditions; (2) follow-up. Measurement data with normal distribution were expressed as Mean± SD. Count data were expressed as absolute numbers. The paired samples t-test was used for comparison of indicators before and after surgery. Result:(1) Intraoperative and postoperative conditions. All 45 patients successfully underwent the operation, with no conversion to open surgery or intraoperative complications. The operation time was (86±8)minutes, volume of intraoperative blood loss was (12±3)mL, and time to postoperative first flatus was (2.2±0.8)days. Among the 45 patients after surgery, 4 cases had fever, 3 cases had retrosternal dull pain and discomfort, 4 cases had dysphagia, 3 cases had abdominal distension, and 5 cases had constipation. All these symptoms were cured or relieved spontaneously after sympto-matic treatment. The duration of postoperative hospital stay was (3.5±0.5)days. There was no patient with infection, delayed bleeding or perforation.(2) Follow-up. All 45 patients were followed up for 1 year after surgery, with no recurrence of GERD. Gastroscopy showed no esophageal mucosal damage such as erosion or ulcer, and no hiatal hernia occurred. Before surgery, the reflux symptom index score, GERD questionnaire score, reflux disease questionnaire score, lower esophageal sphincter resting pressure, and DeMeester score of 24-hour esophageal pH monitoring were 24.3±1.9, 12.5±2.1,20.1±4.5, (7.1±1.1)mmHg (1 mmHg=0.133 kPa), and 31.4±6.4, respectively. At 1 year after surgery, the above indicators were 2.2±0.7, 6.5±0.5, 4.0±2.6, (23.2±2.9)mmHg, and 6.0±1.4, respectively. There were significant differences before and after surgery ( t=80.75, 18.70,20.09, -33.45, 26.15, P<0.05). Conclusion:Laparoscopic left hemi-fundoplication is safe and feasible for GERD, which can improve the clinical symptoms of patients.

Objective:To evaluate the clinical utility of left atrial strain parameters and left atrioventricular global longitudinal strain（LAVGLS）in detecting cardiovascular immune-related adverse events（CV-irAEs）among non-small cell lung cancer patients receiving immune checkpoint inhibitors（ICIs）.Methods:A total of 68 patients with non-small cell lung cancer were prospectively enrolled in Tianjin Medical University Cancer Institute and Hospital from October 2023 to October 2024. All patients were treated with ICIs for 6 cycles. Electrocardiogram，cardiac serological markers and echocardiography were examined before medication（T0 stage），4 cycles after medication（T1 stage）and 6 cycles after medication（T2 stage），respectively. According to the guidelines of the American Society of Clinical Oncology，all patients were divided into the CV-irAEs group（ n=14）and the No-CV-irAEs group（ n=54）. AFI software and 4D Auto LAQ software were used to calculate LVGLS，left atrial reservoir longitudinal strain（LASr），LAVGLS and a series of left atrial parameters. Cox proportional hazards regression model was applied to find the risk factors for the occurrence of CV-irAEs. ROC curve was applied to analyze the diagnostic efficiency of these parameters for CV-irAEs. Results:Fourteen patients（20.6%）developed CV-irAEs after T2 stage. After ICIs treatment，LVGLS，LASr and LAVGLS decreased in both groups，LVGLS，LASr and LAVGLS decreased more significantly in the CV-irAEs group than those in the No-CV-irAEs group（ P=0.038，0.047，0.005）. Left ventricular ejection fraction（LVEF）decreased in the CV-irAEs group at the same time（ P=0.003）. Cox multivariate analysis showed that ΔLAVGLS（the difference between stage T0 and stage T2）was a risk factor for CV-irAEs（ HR：1.395， P=0.019）. ROC curve analysis showed the area under the curve of LVGLS，LASr，LAVGLS，ΔLVGLS，ΔLASr，ΔLAVGLS，and LVEF at the T2 stage for diagnosis of CV-irAEs were 0.68，0.67，0.75，0.79，0.73，0.82，and 0.72，respectively. Conclusions:Decline of LAVGLS is a risk factor for CV-irAEs in patients with non-small cell lung cancer receiving ICIs and can be used for early detection of CV-irAEs. LASr has potential diagnostic value for CV-irAEs，but it is less valuable than LVGLS and LAVGLS.

Objective To investigate the value of peripheral blood circRNA9226 combined with tumor markers for the diagnosis of lung adenocarcinoma.Methods A total of 30 patients with lung adenocarcinoma who were admitted to the Affiliated Lihuili Hospital of Ningbo University from December 2022 to January 2023 were selected as case group.Additionally,twenty healthy individuals who underwent physical examinations during the same period were selected as control group.The expression levels of circRNA9226,carcinoembryonic antigen(CEA),carbohydrate antigen(CA)199,and albumin(Alb)were compared between two groups.The diagnostic efficacy of circRNA9226 and CEA for lung adenocarcinoma was evaluated by receiver operating characteristic(ROC)curve,and the correlation between circRNA9226 and other indicators was analyzed.Results The peripheral blood circRNA9226 expression levels in case group was higher than that in control group(P＜0.05).The sensitivity of circRNA9226 and CEA for diagnosing lung adenocarcinoma was 83.3％and 46.7％,respectively,with specificity of 90.0％and 100.0％.Area under the curve(AUC)was 0.897 and 0.776,respectively.When both tests were combined,the sensitivity was 93.3％,accuracy was 92.0％,and AUC was 0.918,showing a significant improvement in both sensitivity and accuracy compared to single tests.The correlation analysis results showed that circRNA9226 was positively correlated with CEA concentration(r=0.371,P＜0.05)and negatively correlated with Alb concentration(r=-0.548,P＜0.05).Conclusion Peripheral blood circRNA9226 has advantages in distinguishing lung adenocarcinoma from healthy controls,and combined with CEA can further improve the diagnostic efficacy.

Objective:To evaluate the clinical utility of left atrial strain parameters and left atrioventricular global longitudinal strain（LAVGLS）in detecting cardiovascular immune-related adverse events（CV-irAEs）among non-small cell lung cancer patients receiving immune checkpoint inhibitors（ICIs）.Methods:A total of 68 patients with non-small cell lung cancer were prospectively enrolled in Tianjin Medical University Cancer Institute and Hospital from October 2023 to October 2024. All patients were treated with ICIs for 6 cycles. Electrocardiogram，cardiac serological markers and echocardiography were examined before medication（T0 stage），4 cycles after medication（T1 stage）and 6 cycles after medication（T2 stage），respectively. According to the guidelines of the American Society of Clinical Oncology，all patients were divided into the CV-irAEs group（ n=14）and the No-CV-irAEs group（ n=54）. AFI software and 4D Auto LAQ software were used to calculate LVGLS，left atrial reservoir longitudinal strain（LASr），LAVGLS and a series of left atrial parameters. Cox proportional hazards regression model was applied to find the risk factors for the occurrence of CV-irAEs. ROC curve was applied to analyze the diagnostic efficiency of these parameters for CV-irAEs. Results:Fourteen patients（20.6%）developed CV-irAEs after T2 stage. After ICIs treatment，LVGLS，LASr and LAVGLS decreased in both groups，LVGLS，LASr and LAVGLS decreased more significantly in the CV-irAEs group than those in the No-CV-irAEs group（ P=0.038，0.047，0.005）. Left ventricular ejection fraction（LVEF）decreased in the CV-irAEs group at the same time（ P=0.003）. Cox multivariate analysis showed that ΔLAVGLS（the difference between stage T0 and stage T2）was a risk factor for CV-irAEs（ HR：1.395， P=0.019）. ROC curve analysis showed the area under the curve of LVGLS，LASr，LAVGLS，ΔLVGLS，ΔLASr，ΔLAVGLS，and LVEF at the T2 stage for diagnosis of CV-irAEs were 0.68，0.67，0.75，0.79，0.73，0.82，and 0.72，respectively. Conclusions:Decline of LAVGLS is a risk factor for CV-irAEs in patients with non-small cell lung cancer receiving ICIs and can be used for early detection of CV-irAEs. LASr has potential diagnostic value for CV-irAEs，but it is less valuable than LVGLS and LAVGLS.

OBJECTIVE To assess the current status of hospital-acquired infections and their economic burden in or-thopedic patients based on diagnosis-related groups(DRG).METHOD Based on the National Health Insurance dis-ease diagnosis-related groups,32 413 orthopedic patients from a tertiary care hospital in Beijing in 2021 were grouped,hospital-acquired infections were retrospectively analyzed,and the direct and indirect economic burdens of different DRG groups were assess using indictors such as hospitalization time and cost,bed turnover loss,and labor time loss.RESULTS A total of 32 413 patients were included,the incidence of hospital-acquired infection was 0.47％(153/32 413),the site of infection was predominantly the surgical site(57.99％),and hospital-acquired infections in the hematologic system had a greater impact on cost-consumption indices and time-consumption indi-ces.The infection cases were concentrated in 19.58％of the DRGs groups.The IF23 group(lower limb bone sur-gery with complications and comorbidities)had the highest direct economic burden(24 010 yuan/case)due to hos-pital-acquired infections,and the increase in the cost of consumables and medication was the main factor causing the direct economic burden.At both the hospital level and family-society level,the top three DRG groups in terms of indirect economic burden due to hospital-acquired infections were IB15,IB13 and IF23.CONCLUSION Hospital-acquired infections in orthopedic patients have a tendency to be concentrated,quantitatively assessment of their e-conomic burden based on DRGs not only illustrates the importance of hospital-acquired infection prevention and control,but also accurately identifies the disease groups that require focused management,providing an evidence-based basis for precise prevention and control of hospital-acquired infections.

Objective:To investigate the value of T helper 17 cells（Th17）/regulatory T cells（Treg）imbalance in the evaluation of intravenous immunoglobulin（IVIG）resistance in children with Kawasaki disease and Kobayashi score≤4.Methods:A total of 78 children with Kawasaki disease and Kobayashi score ≤ 4 admitted to Hunan Children's Hospital from January 2020 to December 2023 were prospectively selected as the study subjects，all of whom received IVIG treatment.In the acute phase，the proportion of Th17 cells and Treg cells was detected.Children were divided into IVIG sensitive group and IVIG resistance group based on their responsiveness to IVIG treatment.Baseline data of children with different IVIG treatment responsiveness，acute Th17 cell inflammatory factors [interleukin（IL）-17，IL-21，tumor necrosis factor-α（TNF-α）]，Treg cell inflammatory factors [IL-10，IL-35，transforming growth factor-β（TGF-β）] levels，and Th17/Treg values were compared.The correlation between Th17/Treg values and IVIG resistance in children with Kawasaki disease was analyzed using a restricted cubic spline model（RCS）.According to the threshold of correlation between Th17/Treg values obtained from RCS analysis and drug resistance in children，Th17/Treg was grouped，with a focus on analyzing the predictive value and clinical benefits of Th17/Treg values for IVIG resistance in children with Kawasaki disease.Results:Among the 78 children with Kawasaki disease，16 were resistant to IVIG treatment，accounting for 20.51%.The levels of C-reactive protein（CRP）,IL-17,and Th17/Treg in the acute phase of children in the IVIG resistance group were higher than those in the IVIG sensitive group，while the levels of IL-10 were lower than those in the IVIG sensitive group（ P<0.05）.RCS analysis showed that there was a non-linear dose-response relationship between IVIG resistance and acute Th17/Treg values in children with Kawasaki disease（ P<0.05）.When the acute Th17/Treg value was greater than 1.05，the risk of IVIG resistance in children with Kawasaki disease increased with the increase in indicator levels.The levels of CRP and IL-17 in the acute phase of children with Th17/Treg>1.05 were higher than those in the Th17/Treg < 1.05 group，while IL-10 levels were lower than those in the Th17/Treg<1.05 group.The proportion of children resistant to IVIG treatment was higher than that in the Th17/Treg<1.05 group（ P<0.05）.Multivariate Logistic regression analysis showed that CRP，IL-17，IL-10，and Th17/Treg were the influencing factors of IVIG resistance in children with Kawasaki disease（ P<0.05）.It was found through a nomogram that the C-index of the acute phase Th17/Treg values and their secretion of inflammatory factors in children with Kawasaki disease and Kobayashi score ≤ 4，as well as other major indicators，predicted the risk of IVIG resistance.The C-index was 0.975（95% CI 0.944-1.000），indicating good discrimination.When drawing the decision curve，it was found that compared to using each indicator separately，the Th17/Treg value and its secreted inflammatory factors in the acute phase assisted other major indicators in drawing the decision curve with a higher net benefit rate，with a maximum net benefit rate of 0.205. Conclusion:IVIG resistance in children with Kawasaki disease and Kobayashi score≤4 is related to Th17/Treg imbalance.When the Th17/Treg value in the acute phase of the disease is greater than 1.05，the risk of IVIG resistance is higher.The inflammatory factors IL-17 and IL-10 secreted by the two can assist other known indicators related to IVIG resistance in Kawasaki disease patients，improving the accuracy of predicting resistance risk.

Objective:To explore the clinical efficacy of laparoscopic left hemi-fundoplica-tion for gastroesophageal reflux disease (GERD).Method:The retrospective and descriptive study was conducted. The clinical data of 45 patients with GERD who were admitted to Hebei Provincial Hospital of Traditional Chinese Medicine from July 2019 to July 2022 were collected. There were 26 males and 19 females, aged (46±12) years. All patients underwent laparoscopic left hemi-fundoplication. Observation indicators: (1) intraoperative and postoperative conditions; (2) follow-up. Measurement data with normal distribution were expressed as Mean± SD. Count data were expressed as absolute numbers. The paired samples t-test was used for comparison of indicators before and after surgery. Result:(1) Intraoperative and postoperative conditions. All 45 patients successfully underwent the operation, with no conversion to open surgery or intraoperative complications. The operation time was (86±8)minutes, volume of intraoperative blood loss was (12±3)mL, and time to postoperative first flatus was (2.2±0.8)days. Among the 45 patients after surgery, 4 cases had fever, 3 cases had retrosternal dull pain and discomfort, 4 cases had dysphagia, 3 cases had abdominal distension, and 5 cases had constipation. All these symptoms were cured or relieved spontaneously after sympto-matic treatment. The duration of postoperative hospital stay was (3.5±0.5)days. There was no patient with infection, delayed bleeding or perforation.(2) Follow-up. All 45 patients were followed up for 1 year after surgery, with no recurrence of GERD. Gastroscopy showed no esophageal mucosal damage such as erosion or ulcer, and no hiatal hernia occurred. Before surgery, the reflux symptom index score, GERD questionnaire score, reflux disease questionnaire score, lower esophageal sphincter resting pressure, and DeMeester score of 24-hour esophageal pH monitoring were 24.3±1.9, 12.5±2.1,20.1±4.5, (7.1±1.1)mmHg (1 mmHg=0.133 kPa), and 31.4±6.4, respectively. At 1 year after surgery, the above indicators were 2.2±0.7, 6.5±0.5, 4.0±2.6, (23.2±2.9)mmHg, and 6.0±1.4, respectively. There were significant differences before and after surgery ( t=80.75, 18.70,20.09, -33.45, 26.15, P<0.05). Conclusion:Laparoscopic left hemi-fundoplication is safe and feasible for GERD, which can improve the clinical symptoms of patients.