Objective To analyze ethnic differences in mutations of the PIK3CA and TP53 genes among breast cancer patients from the Han, Tibetan, and Hui ethnic groups in Qinghai, China, and their associations with clinicopathological characteristics. Methods A total of 382 breast cancer tissue samples were retrospectively collected from surgical patients (Jan 2020−Dec 2022), comprising 200 Han, 93 Tibetan, and 89 Hui ethnicity. Mutations in PIK3CA (E542K, H1047R, and E545K) and TP53 (R273H and R175H) were detected by using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Correlations between mutations and clinicopathological parameters were analyzed. Results Significant differences were observed in pTNM stage, lymph node metastasis, molecular subtypes, and PR status among the three ethnic groups. The overall mutation rate of PIK3CA and TP53 was 48.95%. The PIK3CA-p.E542K mutation rate in Tibetan cohort was significantly higher than those in Han and Hui cohort, whereas the detection rate of the PIK3CA-p.E545K mutation was lower in Tibetan cohort than that in Han cohort. The PIK3CA-p.E542K mutation was associated with an increased risk of lymph node metastasis. The TP53-p.R175H mutation was significantly correlated with advanced pTNM stage, vascular invasion, and triple-negative breast cancer. The PIK3CA-H1047R and E545K mutations were enriched in the luminal A subtype of breast cancer. Conclusion Considerable ethnic disparities exist in breast cancer mutation profiles in Qinghai, with the high-frequency PIK3CA-p.E542K mutation in Tibetan population potentially serving as a region-specific therapeutic target. Mutations are closely linked to tumor aggressiveness and molecular subtypes, highlighting the value of PIK3CA/TP53 mutation detection for early risk stratification and personalized treatment of breast cancer in high-altitude populations.

Objective:To study and establish the UPLC fingerprint and multi-index content determination methods of Hedyotidis chrysotricahae Herba; To provide a reference for the quality control of Hedyotidis chrysotricahae Herba.Methods:The chromatographic column was ACQUITY UPLC HSS T3 (100 mm×2.1 mm,1.8 μm). The mobile phase was acetonitrile-0.1% phosphoric acid solution with gradient elution; the detection wavelength was 254 nm; the flow rate was 0.30 ml/min and column temperature was 35 ℃. The method could determine content and fingerprint of rutin, Kaempferol-3-O-rutinoside, Narcissoside, Neochlorogenic aci, Chlorogenic Acid, Cryptochlorogenic acid and have quality analysis to 17 batches of Hedyotidis chrysotricahae Herba based on the variance of fingerprint, similarity evaluation, clustering analysis along with principal component analysis (PCA) at the same time.Results:The common pattern of UPLC specific chromatogram of Hedyotidis chrysotricahae Herba was established. The 11 common peaks were marked out, among which 7 peaks were identified. 17 batches Hedyotidis chrysotricahae Herba could be divided into 4 categories according to different origins. Quality content of six indicators of Hedyotidis chrysotricahae Herba was in slight difference between different origins, among which the content quality of Hedyotidis chrysotricahae Herba from Duyun in Guizhou Province was the highest.Conclusion:The established UPLC fingerprint and content determination method of 6 indicators from the study can be used for the quality control of Hedyotidis chrysotricahae Herba, which can also provide a theoretical basis for the standard improvement of Hedyotidis chrysotricahae Herba.

Objective To investigate the effect and mechanism of microRNA-10b(miR-10b)on idiopathic short stature(ISS).Methods A total of 54 children with ISS and 54 healthy children were collected.The serum expression of miR-10b was detected by RT-qPCR,and the relationship between serum miR-10b expression and clinical data of children with ISS was analyzed.miR-10b inhibitor,si-TGFBR1 and their negative control transfection C28/I2 cells were used.CCK-8 experimental detection was used to detect C28/I2 cell proliferation.Western blot assay was used to detect gnome related transcription factor 2(RUNX2),collagen type X alpha 1 chain(COL10A1),transforming growth factor beta receptor 1(TGFBR1),SMAD3 and pSMAD3 protein expression.The target of miR-10b was screened in StarBase database,and the targeting relationship between miR-10b and TGFBR1 was verified by dual luciferase reporter gene assay.Results The serum expression of miR-10b was higher in the ISS group than that of the healthy control group,and the higher the miR-10b expression,the more obvious the decrease of child height,IGF-1 and alkaline phosphatase(P＜0.05).Compared with the NC group,the cell proliferation ability and RUNX2,COL10A1,TGFBR1,and pSMAD3 protein expression were up-regulated in the miR-10b inhibitor group(P＜0.05).StarBase database suggested that miR-10b had a binding site of TGFBR1,and dual luciferase reporter gene assay confirmed that TGFBR1 interacted with miR-10b(P＜0.05).Compared with the si-NC group,the expression of TGFBR1 was down-regulated and the cell proliferation ability was decreased in the si-TGFBR1 group(P＜0.05).Conclusion miR-10b inhibits chondrocyte proliferation and hypertrophy in idiopathic short stature by targeting TGFBR1/SMAD3 pathway.

Objective To construct and identify the induced pluripotent stem cells(iPSCs)derived from peripheral blood mononuclear cells(PBMCs)of a patient with facioscapulohumeral muscular dystrophy(FSHD),initially explore their differentiation ability into skeletal muscle cells,and evaluate the feasibility of using this cell model for disease mechanism research.Methods The PBMCs from one FSHD patient were collected and transfected with Sendai virus containing four reprogramming transcription factors,including OCT4,SOX2,KLF4 and c-MYC,so as to obtain the iPSCs from the FSHD patient.Then,the iPSCs were induced to differentiate into skeletal muscle cells.The characteristics of the iPSCs and skeletal muscle cells were evaluated by the optical genome mapping technolo-gy,karyotyping analysis,immunofluorescence staining,and real-time fluorescence quantitative PCR.Results The iPSCs from the FSHD patient were successfully obtained,which could express the markers of iPSCs.The karyotype and D4Z4 repeat unit of the iPSCs were consistent with that of the patient.The iPSCs could be induced to differentiate into skeletal muscle cells in vitro,which expressed the pathogenic gene DUX4 and its regulatory genes.Conclusion The PBMCs from one FSHD patient can be reprogrammed into iPSCs,which can be differentiated into disease-related myogenic progenitor cells and myotubes.This provides a useful cell model for in vitro studies of the pathogenesis of FSHD and a tool for the effective treatment of FSHD.

Objective To investigate the feasibility and safety of transanal total mesorectal excision (TaTME) in re-operation for anastomosis recurrence rectal cancer. Methods Five patients with anastomosis recurrence rectal cancer underwent TaTME at Ruijin Hospital between April 2020 and December 2021 were retrospectively enrolled in this study. The peri-operative situation, pathological examination, and short-term follow-up results were analyzed. Results All cases were operated laparoscopic TaTME successfully. The operative time was (206.00±19.49) min without intraoperative complications. One case encountered incorrect dissection plane. Anastomotic leakage occurred in one case and anastomotic stenosis developed in another case. The specimens quality of mesorectum deemed complete in all cases without both positive circumferential resection margin and positive distal resection margin. There was (15.20±2.39) months of median follow-up and one case found defecation disorder. Tumor recurrence, metastasis and tumor-related death were not found. Conclusions For patients with anastomosis recurrence rectal cancer, laparoscopic TaTME procedure is novel type and would be safe and effective surgical approach with satisfactory short-term follow-up.

Objective:To explore the nutritional knowledge, attitude and practice (KAP) in patients during the waiting period for lung transplantation, analyze its influencing factors, and provide a reference for individualized nutritional intervention during the perioperative period of lung transplantation.Methods:Totally 240 patients during the waiting period for lung transplantation after lung transplantation evaluation in The Respiratory Center, Wuxi People's Hospital between January and December 2018 were selected using convenient sampling, and investigated with the self-made nutritional KAP questionnaire for patients during the waiting period for lung transplantation. And the influencing factors to their nutritional KAP were analyzed.Results:The nutritional knowledge of patients during the waiting period for lung transplantation was average, with a score of (18.71±4.53) ; the nutritional attitude was good, with a score of (38.00±6.49) ; the nutritional practice was average, with a score of (36.75±4.89) . Multiple linear regression analysis showed that the influencing factors of nutritional knowledge were economic status and whether it was complication with neurological diseases ( P<0.05) ; the influencing factors of nutritional attitude were occupation and serum protein ( P<0.05) ; the influencing factors of nutritional practice were age, educational level and whether it was complicated with urinary system disease ( P<0.05) . Conclusions:The nutritional KAP of patients during the waiting period for lung transplantation is affected by age, economic status, comorbidity, occupation and educational level and serum protein. In the perioperative nutritional management of lung transplantation patients, we should fully consider various factors, provide targeted and precision nutritional interventions, improve the nutritional practice and status of patients by improving their nutritional knowledge and attitude.

Objective To assess the efficacy of immunoprophylaxis against mother-to-infant transmission of hepatitis B virus (HBV) in a real-world setting since the implementation of charge-free hepatitis B immunoglobulin (HBIG) and hepatitis B vaccine in China. Methods The screening rate and the prevalence of hepatitis B surface antigen (HBsAg) in 61 790 puerperants, and the administration of combined immunoprophylaxis in infants of HBsAg-positive mothers in Rugao City of Jiangsu Province from July 1, 2011 to June 30, 2016 were retrospectively analyzed. HBV infection status of infants born to HBV infected mothers was followed up after 7 months of age. HBsAg-positive infants and their mothers were followed up again for HBV markers in April 2018. Fisher's exact test and Cochran-Armitage trend test were used to statistically analyze the differences between groups and various years, respectively. Results All 61 790 puerperants were screened for HBsAg and the prenatal screen rate was 98.6% (60 937/61 790) with an increasing trend over time (χ2trend=750.908, P<0.001). HBsAg-positive puerperants accounted for 5.5% (3 397/61 790) with a decreasing trend over time (χ2trend=32.667, P<0.001). In total, 778 offspring (399 boys and 379 girls) of 759 HBsAg-positive mothers were followed up at (13.7±6.9) months of age, among which 751 (96.5%) were administered and 25 (3.2%) were probably administered standard combined immunoprophylaxis after birth, and the rest two (0.3%) were not. Fourteen infants (1.8%) were HBsAg positive and all born to mothers with positive hepatitis B e antigen (HBeAg). None of the 538 infants born to HBeAg-negative mothers was HBsAg-positive. HBsAg-positive rate in infants born since 2013 was lower than those in 2011 and 2012 (χ2trend=13.352, P=0.000 3). Eleven HBsAg-positive mothers and their children were followed up again 4–5 years later in April 2018. HBV DNA levels of all mothers were within the range of (7.34–28.2)×107 IU/ml except one case of spontaneous HBeAg seroconversion. One out of the 11 infected children also had HBeAg seroconversion. Phylogenetic analysis of HBV S gene showed that the 11 pairs of mothers and children were all infected with HBV of genotype C. Conclusions The implementation of charge-free HBIG and hepatitis B vaccine for newborns achieves fruitful results in Rugao city as the mother-to-infant transmission of HBV in the real-world had been further reduced to a similar level reported in literature survey.

Objective To apply the big data on medical equipment quality inspection to scientific management of medical equipment.Methods The big data on medical equipment metrological verification and quality control were analyzed,and medical equipment performance curve was drawn based on the function on data standard deviation and time.Results The big data provided support for medical equipment bidding and purchase,preventive maintenance and precision benefit analysis.Conclusion Medical equipment big data is of great significance to enhance medical support ability,and contributes to the management of medical equipment and strategic equipment.

Objective To observe multiple metabolic changes within one year after Roux-en-Y gastric bypass (RYGB) surgery in obese patients with type 2 diabetes mellitus, and to evaluate the index of the gastric bypass surgery and the determination of applicable population. Methods The clinical and laboratory data before and after surgery in 112 patients diagnosed as type 2 diabetes mellitus by RYGB were included in this study. According to BMI, these patients were divided into two groups: normal group (≤ 25kg/m2), and the overweight group (> 25 kg/m2). The physiologic and biochemical indexes of the patients were followed up at 1, 3, 6, 12 months, respectively. The statistical analysis was performed by SPSS17.0 software. Results Compared with the preoperative period, the levels of HbA1c and HOMA-IR in the postoperative period were significantly increased in the two groups. Principal component analysis showed that the postoperatively contributions of BMI and HbA1c in 6 months was bigger than that of the other indexes, while HOMA-β, HOMA-IR had larger contributions after 6-month postoperative period. Conclusion Various metabolic indexes in patients with type 2 diabetes improve significantly within one year after surgery, and the complete remission rate is gradually increased. The indexes including weight, blood glucose, serum lipids, HOMA-βand HOMA-IR in overweight and obese group have more significant improvements than those in normal group. Obese patients are more appropriate for the surgical treatment. The indexes, such as BMI, HbA1c,HOMA-βand HOMA-IR, should help to evaluate the operating effectiveness and preoperative indications.

Objective To evaluate the effectivity and safety of dual antiplatelet therapy with clopidogrel and aspirin in patients with ST-segment elevation acute yocardial infarction(AMI).Methods We searched for randomized controlled trials(RCTs)and quasi-RCTs in the following electronic databases:PubMed,EMBASE,The Cochrane Library(Issue 3,2007),CBM,CNKI,VIP and Wanfang.Quality assessment and data extraction were conducted by two reviewers independently.Disagreement were resolved through discussion.All data were analyzed by using Review Manager 4.2. Results Ten studies involving a total of 52 433 participants met the inclusion criteria.Metaanalysis results showed that:(1)Compared with aspirin alone,the incidence rates of death caused by any reason(RR=0.91,95% CI:0.85～0.97),recurrent myocardial infarction(RR=0.80,95% CI:0.72～0.89),stroke(RR=0.81,95% CI:0.68～0.96),post-infarction angina(RR=0.35,95% CI:0.19～0.66),incoronary thrombus(RR=0.73,95% CI:0.64～0.83)and the combined endpoint events of death,reinfarction or stroke(RR=0.89,95% CI:0.84～0.95)could be reduced by clopidogrel and aspirin.(2)There were no significant differences in ameliorating the cardiac function and increasing TIMI blood flow of infarct-related artery between the two groups RR=0.97,95% CI:0.92～1.03;RR=1.14,95% CI:1.00～1.30;both P＞0.05.(3)There was no significant difference in bleeding between the tWO groups(RR=1.11,95% CI:0.92～1.34). Conclusions Compared with aspirin alone,clopidogrel plus aspirin has good effects on reducing the incidence rates of death caused by any reason,recurrent myocardial infarction,stroke,post-infarction angina,incoronary thrombus and the combined endpoint events of death,reinfarction or stroke in patients with ST-segment elevation AMI,and it has the same efficacy in ameliorating the cardiac function,increasing TIMI blood flow of infarct-related artery and bleeding.