ObjectiveTo establish a method for the identification of Haliotidis Concha and its counterfeits， and to improve its quality evaluation method. MethodsA total of 17 batches of Haliotis discus hannai， 4 batches of H. ruber， 3 batches of H. laevigata， 3 batches of H. ovina， 3 batches of H. diversicolor， 3 batches of H. asinina， 3 batches of H. iris were collected. Ultra-high performance liquid chromatography-quadrupole/electrostatic field orbitrap high-resolution mass spectrometry（UPLC-Q-Exactive-Orbitrap-MS/MS） was used to analyze the hydrolysates of different original Haliotidis Concha and its counterfeits， and the potential characteristic ions of each species were screened by Venn diagram. UPLC-triple quadrupole tandem mass spectrometry（UPLC-QqQ-MS/MS） was used to validate the characteristic ions， and the specific detection method of the characteristic ions was established. ResultsA total of 1 182， 167， 47， 89， 104， 203， 424 potential characteristic ions were screened from H. discus hannai， H. ruber， H. laevigata， H. ovina， H. diversicolor， H. asinina and H. iris， respectively. And 9 characteristic ions were selected. The precision， stability and repeatability of the 9 characteristic ions in the established identification method met the requirements. Different original Haliotidis Concha and its counterfeits could detect their own characteristic ions， including m/z 631.83-886.48（double charge） and m/z 631.83-443.74（double charge） of H. discus hannai， m/z 699.28-232.11（double charge） and m/z 699.28-544.27（double charge） of H. ruber， m/z 535.76-752.37（double charge） and m/z 535.76-548.28（double charge） of H. laevigata， m/z 708.35-442.28（double charge） and m/z 708.35-215.14（double charge） of H. ovina， m/z 561.33-614.86（triple charge）， m/z 561.33-468.28（triple charge）， m/z 608.29-618.32（double charge） and m/z 608.29-390.21（double charge） of H. diversicolor， m/z 769.85-274.10（double charge）， m/z 769.85-532.75（double charge）， m/z 827.43-646.36（single charge）， m/z 827.43-257.12（single charge） of H. asinina， and m/z 468.24-576.29（double charge） and m/z 468.24-505.26（double charge） of H. iris. ConclusionIn this study， a total of 9 characteristic ions are screened from 6 kinds of original Haliotidis Concha and its counterfeits， and a specific identification method is established， which is helpful to solve the limitations of the existing quality evaluation methods of Haliotidis Concha， and provide a basis for the production， circulation and medication quality.

ObjectiveTo establish a method for the identification of Haliotidis Concha and its counterfeits， and to improve its quality evaluation method. MethodsA total of 17 batches of Haliotis discus hannai， 4 batches of H. ruber， 3 batches of H. laevigata， 3 batches of H. ovina， 3 batches of H. diversicolor， 3 batches of H. asinina， 3 batches of H. iris were collected. Ultra-high performance liquid chromatography-quadrupole/electrostatic field orbitrap high-resolution mass spectrometry（UPLC-Q-Exactive-Orbitrap-MS/MS） was used to analyze the hydrolysates of different original Haliotidis Concha and its counterfeits， and the potential characteristic ions of each species were screened by Venn diagram. UPLC-triple quadrupole tandem mass spectrometry（UPLC-QqQ-MS/MS） was used to validate the characteristic ions， and the specific detection method of the characteristic ions was established. ResultsA total of 1 182， 167， 47， 89， 104， 203， 424 potential characteristic ions were screened from H. discus hannai， H. ruber， H. laevigata， H. ovina， H. diversicolor， H. asinina and H. iris， respectively. And 9 characteristic ions were selected. The precision， stability and repeatability of the 9 characteristic ions in the established identification method met the requirements. Different original Haliotidis Concha and its counterfeits could detect their own characteristic ions， including m/z 631.83-886.48（double charge） and m/z 631.83-443.74（double charge） of H. discus hannai， m/z 699.28-232.11（double charge） and m/z 699.28-544.27（double charge） of H. ruber， m/z 535.76-752.37（double charge） and m/z 535.76-548.28（double charge） of H. laevigata， m/z 708.35-442.28（double charge） and m/z 708.35-215.14（double charge） of H. ovina， m/z 561.33-614.86（triple charge）， m/z 561.33-468.28（triple charge）， m/z 608.29-618.32（double charge） and m/z 608.29-390.21（double charge） of H. diversicolor， m/z 769.85-274.10（double charge）， m/z 769.85-532.75（double charge）， m/z 827.43-646.36（single charge）， m/z 827.43-257.12（single charge） of H. asinina， and m/z 468.24-576.29（double charge） and m/z 468.24-505.26（double charge） of H. iris. ConclusionIn this study， a total of 9 characteristic ions are screened from 6 kinds of original Haliotidis Concha and its counterfeits， and a specific identification method is established， which is helpful to solve the limitations of the existing quality evaluation methods of Haliotidis Concha， and provide a basis for the production， circulation and medication quality.

AIM: To analyze the modeling characteristics and validation indexes of diabetic retinopathy model, analyze the shortcomings of the present animal experimental modeling, and provide a reference basis for the establishment of the standardization of the diabetic retinopathy model.METHODS: Literatures related to animal experiments on diabetic retinopathy were searched through the databases of CNKI, Wanfang, VIP and PubMed, and the experimental animal species, grade, gender, age, modeling method, modeling period, validation indexes, and other indexes were summarized and analyzed.RESULTS: The 275 papers that met the criteria were included. The animal models of diabetic retinopathy were mainly SD rats and Wistar rats, the sex of the experimental animals was mainly male, and the animal breeds were mostly of the SPF class. The age of most of the animals used was in the range of 6-8 weeks old; the modeling was based on those who established the type 1 diabetes model, mainly using STZ as the induction model. While the type 2 diabetes model was based on the high-fat, high-sugar diet combined with STZ. The modeling criteria were verified by detecting retinal morphology and structure, retinal vascularization, retinal function, and retinal cell apoptosis. In addition, the model was evaluated by detecting abnormal vascular proliferation, oxidative stress indicators, and inflammatory factor levels in retinal tissues, as well as abnormal vascular proliferation and inflammatory factor levels in aqueous humour, vitreous humor, and blood serum.CONCLUSION: Although the animal model of diabetic retinopathy has become a hotspot, the existing review is not comprehensive. Therefore, we summarized and analyzed the elements of the animal model through literature collation, including its characteristics and limitations, and providing methodological references for the establishment of the model, with a view to laying a solid foundation for the subsequent clinical and basic research of traditional Chinese medicine.

BACKGROUND:Distal tibial tuberosity-high tibial osteotomy is a surgical treatment for knee osteoarthritis,but there is still a lack of clinical studies on its effect on ankle joints. OBJECTIVE:To observe the effects of distal tibial tuberosity-high tibial osteotomy on ankle angle on coronal plane of the radiography of the full length of lower limb in weight loading. METHODS:Data of 40 patients(41 knees)with distal tibial tuberosity-high tibial osteotomy from March 2021 to March 2022 were retrospectively analyzed,including 31 females and 9 males,20 left knees and 21 right knees,aged 49-75 years,mean(63.44±6.57)years.The radiographic data of the full length of the lower limb in weight loading were collected before,week 2 and week 48 postoperatively.Hip-knee-ankle angle,talar tilt angle,tilt angle of the ankle,tibiocrural angle,and tibial articular surface angle were measured before and after surgery. RESULTS AND CONCLUSION:(1)Hip-knee-ankle angle improved from(-6.24±3.69)° before operation to(2.59±3.49)° week 2 postoperatively and(2.15±3.49)° week 48 postoperatively.The tilt angle of the ankle changed from(-7.90±3.11)° before operation to(-2.51±2.59)° week 2 postoperatively and(-2.46±2.42)° week 48 postoperatively,with statistically significant difference(P<0.001).(2)There was no significant difference in talar tilt angle,tibiocrural angle,and tibial articular surface angle before and week 2 postoperatively.(3)No significant difference in the angle changes was detected between week 2 and week 48 postoperatively.(4)It is indicated that distal tibial tuberosity-high tibial osteotomy can not only correct genu varus but also improve ankle angle.This result remains stable after 48 weeks of weight-bearing activities.

Objective To explore the effect of Sufu on lung adenocarcinoma by observing its mutation and the changes in Gli1 transcription after its mutation.Methods cBioPortal for Cancer Genomics was used to obtain the mutation status of Sufu in lung cancer.Four Sufu single base mutation vectors were constructed and transfected into lung adenocarcinoma cell lines A549 and H1975 to establish cells with Sufu overexpression and knockout.Wounding healing assay was employed to determine the effect of Sufu on cell migration,and RT-qPCR,immunofluorescence assay and dual luciferase reporter gene assay were utilized to explore the changes in Gli1 transcription after Sufu mutation.Results cBioPortal data showed that the mutation rate of Sufu in lung cancer was 11.76％in squamous cell carcinoma(2/17),0.96％in adenocarcinoma(6/625),1.01％in small cell lung cancer(4/396),and 0.69％in non-small cell lung cancer(77/11 227).The median survival of lung cancer patients was significantly decreased in those with Sufu mutation than those without(38.00 vs 54.34 months,HR=1.943,P＜0.05).A549 cells were sensitive to Sufu knockout,and it resulted in significant increase of the transcription level of Gli1(P＜0.05).Overexpression of Sufu inhibited cell migration ability in both A549 and H1975 cells(P＜0.05).Sufu mutation had no significant influence on the location of Gli1 in the cells.The Sufu-T411M mutation up-regulated the the transcription level of Gli1(P＜0.05).Conclusion Sufu has an inhibitory effect on lung adenocarcinoma metastasis,and can be regarded as a potential target for lung adenocarcinoma metastasis.

Objective:To explore the genetic etiology of a child with delayed growth and development and carry out a literature review.Methods:A child suspected for Al Kaissi syndrome at the First Affiliated Hospital of Zhengzhou University on March 6, 2021 was selected as the study subject. Following extraction of genomic DNA, the child was subjected to copy number variation sequencing (CNV-seq) and whole exome sequencing (WES), and candidate variants were verified by PCR-agarose gel electrophoresis and quantitative real-time PCR (qPCR). Prenatal diagnosis was conducted on chorionic villi sample upon subsequent pregnancy.Results:The child, a 6-year-and-4-month-old boy, has dysmorphic features including low-set protruding ears and triangular face, delayed language and intellectual development, and ventricular septal defect. CNV-seq result has found no obvious abnormality, whilst WES revealed homozygous deletion of exons 1 and 2 of the CDK10 gene, which was confirmed by PCR -agarose gel electrophoresis and qPCR. Both of his parents were heterozygous carriers. Prenatal diagnosis using chorionic villi samples suggested that the fetus also carried the heterozygous deletion.Conclusion:The clinical features of Al Kaissi syndrome in this child can probably be attributed to the homozygous deletion of exons 1 and 2 of the CDK10 gene.

Objective:To investigate the efficacy and safety of neoadjuvant therapy with trastuzumab and pertuzumab combined with taxane and platinum drugs (TCbHP) regimen for human epidermal growth factor receptor 2 (HER2)-positive breast cancer.Methods:A retrospective case series study was conducted. The clinical data of HER2-positive breast cancer patients who received neoadjuvant therapy with 21-day TCbHP regimen and completed subsequent surgery in 11 tertiary-level hospitals in Hebei Province from June 2019 to December 2021 were retrospectively analyzed, and the total pathological complete remission (tpCR) rate, the incidence of grade ≥3 adverse events, and the completion rate of the established regimen were statistically analyzed.Results:A total of 78 female patients were included and the median age [ M ( Q1, Q3)] was 54.0 years (48.5 years, 57.5 years). The tpCR rate was 64.1% (50/78). Subgroup analysis showed that the tpCR rate in the HER2 immunohistochemistry (IHC)+++ group was higher than that in the HER2 IHC++ and fluorescence in situ hybridization-positive group [68.6% (48/70) vs. 25.0% (2/8)], and the difference was statistically significant ( χ2 = 4.18, P = 0.041); the tpCR rate in the hormone-receptor negative group was higher than that in the hormone-receptor positive group [81.8% (27/33) vs. 51.1% (23/45)], and the difference was statistically significant ( χ2 = 7.80, P = 0.005); the tpCR rate in the albumin-bound paclitaxel group was higher than that in the docetaxel group [72.3% (34/47) vs. 48.3% (14/29)], and the difference was statistically significant ( χ2 = 4.46, P = 0.035). The incidence of ≥ grade 3 adverse reactions was 12.8% (10/78) in 78 patients, and the completion rate of the established regimen was 92.3% (72/78). Conclusions:Neoadjuvant therapy with TCbHP regimen for HER2-positive breast cancer shows a definite efficacy, good safety and tolerance.

Objective:To explore the clinical significance of the combined application of prenatal cellular and molecular genetics in the diagnosis of fetal sex chromosome mosaicism.Methods:A retrospective analysis was conducted on 14 034 pregnant women aged 20-46 years (mean age 27±3 years) who came to the Genetic Counseling Clinic of the First Affiliated Hospital of Zhengzhou University from May 1st 2017 to January 31th 2020 for G-banding karyotype analysis of fetal amniotic fluid chromosomes. They were 17-32 weeks pregnant and had no consanguineous marriage. The patients diagnosed as sex chromosome mosaicism were screened out and their prenatal diagnostic indications were analyzed. The results of whole-genome copy number variation sequencing (CNV-seq)/single nucleotide polymorphism-array(SNP-array)/fluorescence in situ hybridization(FISH) were comopared, combined with ultrasound findings, and the pregnancy outcomes of all pregnant women were followed up by access to our hospital′s electronic medical record system or telephone.Results:A total of 46 cases of sex chromosome mosaicism were found. There were 43 cases with two types of karyotype mosaicism, accounting for 93.48%, and 3 cases with three types of karyotype mosaicism, accounting for 6.52%. Comparison of karyotype and CNV-seq/SNP-array/FISH results showed that 4 cases had consistent results, 9 cases had consistent results but different proportion, and 10 cases had inconsistent results. Combined with the results of the cytogenetic/molecular genetic analysis and/or ultrasound findings, pregnant women will decide to continue or terminate the pregnancy.Conclusion:The combination of prenatal cytogenetic and molecular genetic methods is helpful for rapid diagnosis of fetal sex chromosome mosaicism, providing scientific basis for pregnant women′s pregnancy selection.

Objective:To investigate the influencing factors for lymph node metastasis and prognosis in early gastric cancer.Methods:The retrospective cohort study was conducted. The clinicopathological data of 1 011 patients with early gastric cancer who were admitted to the Zhejiang Cancer Hospital from January 2010 to December 2019 were collected. There were 561 males and 450 females, aged (58±11)years. All patients underwent radical resection of gastric cancer and the lymph node metastasis of each group was identified according to the pathological examination on patients' surgical specimens. Observation indicators: (1) lymph node metastasis in early gastric cancer; (2) influencing factors for lymph node metastasis in early gastric cancer; (3) influencing factors for prognosis in early gastric cancer. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was conducted using the t test. Count data were described as absolute numbers or percentages, and comparison between groups was conducted using the chi-square test. Comparison of ordinal data was analyzed using the non‐parameter rank sum test. Univariate analysis was conducted using the Log-Rank test and Logistic regression model, and multivariate analysis was conducted using the Logistic stepwise regression model and COX step-wise regression model. The Kaplan-Meier method was used to calculate survival rate and draw survival curve, and the Log-Rank test was used for survival analysis. Results:(1) Lymph node metastasis in early gastric cancer. The lymph node metastasis rate of 1 011 patients with early gastric cancer was 23.640%(239/1 011), in which the lymph node metastasis rate of patients with T1a stage gastric cancer was 11.883%(53/446), and the lymph node metastasis rate of patients with T1b stage gastric cancer was 32.920%(186/565). There were 239 patients with lymph node metastasis mainly concentrated in the first station, including 7 cases with No.1 lymph node metastasis, 11 cases with No.2 lymph node metastasis, 135 cases with No.3 lymph node metastasis, 59 cases with No.4 lymph node metastasis, 39 cases with No.5 lymph node metastasis, 91 cases with No.6 lymph node metastasis, 6 cases with No.7 lymph node metastasis, 8 cases with No.8 lymph node metastasis, 8 cases with No.9 lymph node metastasis and 6 cases with No.10 lymph node metastasis. Multiple lymph node metastases may exist in the same patient. For lymph node metastasis in different tumor sites, there were 4 cases, 2 cases and 1 case of lymph node metastasis in the No.2, 3 and 5 lymph node in patients with upper gastric cancer. There were 3 cases, 7 cases, 36 cases, 15 cases, 3 cases and 5 cases of lymph node metastasis in the No.1, 2, 3, 4, 5 and 6 lymph node in patients with middle gastric cancer. There were 4 cases, 97 cases, 44 cases, 35 cases and 86 cases of lymph node metastasis in the No.1, 3, 4, 5 and 6 lymph node in patients with lower gastric cancer. (2) Influencing factors for lymph node metastasis in early gastric cancer. Results of multivariate analysis showed that tumor diameter, tumor location, degree of tumor invasion, vascular thrombus, degree of tumor differentiation were independent factors influencing lymph node metastasis in early gastric cancer ( odds ratio=1.80, 1.49, 2.65, 5.76, 0.60, 95% confidence interval as 1.29-2.50, 1.11-2.00, 1.81-3.88, 3.87-8.59, 0.48-0.76, P<0.05). (3) Influencing factors for prognosis in early gastric cancer. All 1 011 patients were followed up for 43(range, 0-135)months, and the 3-year overall survival rate was 97.32%. Results of multivariate analysis showed that age >60 years and lymph node metastasis were independent risk factors influencing prognosis in early gastric cancer ( hazard ratio=9.50, 2.20, 95% confidence interval as 3.31-27.29, 1.00-4.87, P<0.05). Results of further analysis showed that the 3-year overall survival rate was 99.37% and 94.66% in patient with age >60 years and ≤60 years, respectively, showing a significant difference between them ( χ2=25.33, P<0.05). The 3-year overall survival rate was 95.42% and 97.92% in patients with and without lymph node metastasis, respectively, showing a significant difference between them ( χ2=5.69, P<0.05). Conclusions:The lymph node metastasis rate of early gastric cancer can reach 23.640%. Tumor diameter, tumor location, degree of tumor invasion, vascular thrombus, degree of tumor differentia-tion are independent factors influencing lymph node metastasis in early gastric cancer, age >60 years and lymph node metastasis are independent risk factors influencing prognosis.

OBJECTIVE: To analyze the result of prenatal diagnosis and outcome of pregnancy for fetuses with rare autosomal trisomies (RATs) suggested by non-invasive prenatal testing (NIPT). METHODS: A total of 69 608 pregnant women who underwent NIPT at Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University from January 2016 to December 2020 were selected as study subjects. The result of prenatal diagnosis and outcome of pregnancy for those with a high risk for RATs were retrospectively analyzed. RESULTS: Among the 69 608 pregnant women, the positive rate of NIPT for high-risk RATs was 0.23% (161/69 608), with trisomy 7 (17.4%, 28/161) and trisomy 8 (12.4%, 20/161) being the most common, and trisomy 17 (0.6%, 1/161) being the rarest. For 98 women who had accepted invasive prenatal diagnosis, 12 fetal chromosomal abnormalities were confirmed, and in 5 cases the results were consistent with those of NIPT, which yielded a positive predictive value of 5.26%. Among the 161 women with a high risk for RATs, 153 (95%) were successfully followed up. 139 fetuses were ultimately born, with only one being clinically abnormal. CONCLUSION Most women with a high risk for RATs by NIPT have good pregnancy outcomes. Invasive prenatal diagnosis or serial ultrasonography to monitor fetal growth, instead of direct termination of pregnancy, is recommended.
Pregnancy ; Female ; Humans ; Trisomy/genetics* ; Pregnancy Outcome ; Retrospective Studies ; Prenatal Diagnosis/methods* ; Fetus ; Trisomy 18 Syndrome/genetics* ; Aneuploidy