1.Serological and molecular biological analysis of a rare Dc- variant individual
Xue TIAN ; Hua XU ; Sha YANG ; Suili LUO ; Qinqin ZUO ; Liangzi ZHANG ; Xiaoyue CHU ; Jin WANG ; Dazhou WU ; Na FENG
Chinese Journal of Blood Transfusion 2025;38(8):1101-1106
Objective: To reveal the molecular biological mechanism of a rare Dc-variant individual using PacBio third-generation sequencing technology. Methods: ABO and Rh blood type identification, DAT, unexpected antibody screening and D antigen enhancement test were conducted by serological testing. The absorption-elution test was used to detect the e antigen. RHCE gene typing was performed by PCR-SSP, and the 1-10 exons of RHCE were sequenced by Sanger sequencing. The full-length sequences of RHCE, RHD and RHAG were detected by PacBio third-generation sequencing technology. Results: Serological findings: Blood type O, Dc-phenotype, DAT negative, unexpected antibody screening negative; enhanced D antigen expression; no detection of e antigen in the absorption-elution test. PCR-SSP genotyping indicated the presence of only the RHCE
c allele. Sanger sequencing results: Exons 5-9 of RHCE were deleted, exon 1 had a heterozygous mutation at c. 48G/C, and exon 2 had five heterozygous mutations at c. 150C/T, c. 178C/A, c. 201A/G, c. 203A/G and c. 307C/T. Third-generation sequencing results: RHCE genotype was RHCE
02N. 08/RHCE-D(5-9)-CE; RHD genotype was RHD
01/RHD
01; RHAG genotype was RHAG
01/RHAG
01 (c. 808G>A and c. 861G>A). Conclusion: This Dc-individual carries the allele RHCE
02N. 08 and the novel allele RHCE-D(5-9)-CE. The findings of this study provide data support and a theoretical basis for elucidating the molecular mechanisms underlying RhCE deficiency phenotypes.
2.Effects of probiotics combined with montmorillonite powder on intestinal mucosa and expressions of intestinal microorganism function-related genes in neonatal rats with rotavirus infection
Lin ZHAO ; Sha-Sha XU ; Wei-Sheng GUO ; Peng LIU ; Zuo-Wu XI
The Chinese Journal of Clinical Pharmacology 2024;40(13):1903-1907
Objective To analyze the effects of probiotics combined with montmorillonite powder on intestinal mucosa and expressions of intestinal microorganism function-related genes in neonatal rats with rotavirus(RV)infection.Methods RV infection model was established by intragastric administration of SA11 strain rotavirus.Forty-eight suckling rats were randomly divided into normal group(0.9%NaCl),model group(0.9%NaCl),experimental group(0.06 g·mL-1 montmorillonite powder)and combined group(0.06 g·mL-1 montmorillonite powder+6.5 × 107 CFU·mL-1 Saccharomyces cerevisiae powder)with 12 rats in each group.The feces were collected for evaluation.The levels of serum tumor necrosis factor-a(TNF-a),interleukin-1 β(IL-1 β)and IL-17 were detected by enzyme-linked immunosorbent assay,the levels of aquaporin(AQP)in intestinal tissues was detected by real-time fluorescence quantitative polymerase chain reaction,and the counts of Bifidobacteria and Escherichia coli in feces were detected by bacterial 16srDNA fluorescence quantitative polymerase chain reaction.Results The feces scores in normal,model,experimental and combined groups were(1.01±0.10),(2.97±0.08),(2.84±0.03)and(2.77±0.03)points;TNF-α levels were(132.54±14.63),(185.66±19.64),(165.25±17.63)and(149.95±15.76)pg·mL-1;IL-1β levels were(172.32±18.68),(265.34±27.72),(202.34±21.34)and(186.24±19.46)pg·mL-1;IL-17 levels were(118.62±12.44),(173.24±18.25),(152.32±16.72)and(122.54±13.58)pg·mL-1;Bifidobacteria counts were(6.35±0.64),(4.31±0.44),(4.93±0.50)and(5.34±0.54)CFU·g-1;Escherichia coli counts were(6.14±0.62),(8.78±0.88),(8.46±0.85)and(8.12±0.83)CFU·g-1;mRNA levels of AQP2 were 1.02±0.05,0.72±0.07,0.89±0.08 and 1.21±0.12;mRNA expression levels of AQP4 were 1.04±0.07,0.42±0.05,0.78±0.08 and 1.19±0.12;mRNA expression levels ofAQP8 were 1.00±0.06,0.63±0.06,0.91±0.09 and 1.30±0.13,respectively.There were significant differences of above indexes between the model group with the normal,experimental and combined groups(all P<0.05).Conclusion Montmorillonite powder combined with probiotics can improve fecal properties,reduce serum inflammatory factors and correct intestinal flora disorders in neonatal rats with RV infection,which may be related to improving the expressions of intestinal A QP2,AQP4 and AQP8.
3.Association of Triglyceride Glucose-Derived Indices with Recurrent Events Following Atherosclerotic Cardiovascular Disease
Sha LI ; Hui-Hui LIU ; Yan ZHANG ; Meng ZHANG ; Hui-Wen ZHANG ; Cheng-Gang ZHU ; Yuan-Lin GUO ; Na-Qiong WU ; Rui-Xia XU ; Qian DONG ; Ke-Fei DOU ; Jie QIAN ; Jian-Jun LI
Journal of Obesity & Metabolic Syndrome 2024;33(2):133-142
Background:
Triglyceride glucose (TyG) and TyG-body mass index (TyG-BMI) are reliable surrogate indices of insulin resistance and used for risk stratification and outcome prediction in patients with atherosclerotic cardiovascular disease (ASCVD). Here, we inserted estimated average glucose (eAG) into the TyG (TyAG) and TyG-BMI (TyAG-BMI) as derived parameters and explored their clinical significance in cardiovascular risk prediction.
Methods:
This was a population-based cohort study of 9,944 Chinese patients with ASCVD. The baseline admission fasting glucose and A1C-derived eAG values were recorded. Cardiovascular events (CVEs) that occurred during an average of 38.5 months of follow-up were recorded. We stratified the patients into four groups by quartiles of the parameters. Baseline data and outcomes were analyzed.
Results:
Distribution of the TyAG and TyAG-BMI indices shifted slightly toward higher values (the right side) compared with TyG and TyG-BMI, respectively. The baseline levels of cardiovascular risk factors and coronary severity increased with quartile of TyG, TyAG, TyG-BMI, and TyAG-BMI (all P<0.001). The multivariate-adjusted hazard ratios for CVEs when the highest and lowest quartiles were compared from low to high were 1.02 (95% confidence interval [CI], 0.77 to 1.36; TyG), 1.29 (95% CI, 0.97 to 1.73; TyAG), 1.59 (95% CI, 1.01 to 2.58; TyG-BMI), and 1.91 (95% CI, 1.16 to 3.15; TyAG-BMI). The latter two showed statistical significance.
Conclusion
This study suggests that TyAG and TyAG-BMI exhibit more information than TyG and TyG-BMI in disease progression among patients with ASCVD. The TyAG-BMI index provided better predictive performance for CVEs than other parameters.
4.Association of Triglyceride Glucose-Derived Indices with Recurrent Events Following Atherosclerotic Cardiovascular Disease
Sha LI ; Hui-Hui LIU ; Yan ZHANG ; Meng ZHANG ; Hui-Wen ZHANG ; Cheng-Gang ZHU ; Yuan-Lin GUO ; Na-Qiong WU ; Rui-Xia XU ; Qian DONG ; Ke-Fei DOU ; Jie QIAN ; Jian-Jun LI
Journal of Obesity & Metabolic Syndrome 2024;33(2):133-142
Background:
Triglyceride glucose (TyG) and TyG-body mass index (TyG-BMI) are reliable surrogate indices of insulin resistance and used for risk stratification and outcome prediction in patients with atherosclerotic cardiovascular disease (ASCVD). Here, we inserted estimated average glucose (eAG) into the TyG (TyAG) and TyG-BMI (TyAG-BMI) as derived parameters and explored their clinical significance in cardiovascular risk prediction.
Methods:
This was a population-based cohort study of 9,944 Chinese patients with ASCVD. The baseline admission fasting glucose and A1C-derived eAG values were recorded. Cardiovascular events (CVEs) that occurred during an average of 38.5 months of follow-up were recorded. We stratified the patients into four groups by quartiles of the parameters. Baseline data and outcomes were analyzed.
Results:
Distribution of the TyAG and TyAG-BMI indices shifted slightly toward higher values (the right side) compared with TyG and TyG-BMI, respectively. The baseline levels of cardiovascular risk factors and coronary severity increased with quartile of TyG, TyAG, TyG-BMI, and TyAG-BMI (all P<0.001). The multivariate-adjusted hazard ratios for CVEs when the highest and lowest quartiles were compared from low to high were 1.02 (95% confidence interval [CI], 0.77 to 1.36; TyG), 1.29 (95% CI, 0.97 to 1.73; TyAG), 1.59 (95% CI, 1.01 to 2.58; TyG-BMI), and 1.91 (95% CI, 1.16 to 3.15; TyAG-BMI). The latter two showed statistical significance.
Conclusion
This study suggests that TyAG and TyAG-BMI exhibit more information than TyG and TyG-BMI in disease progression among patients with ASCVD. The TyAG-BMI index provided better predictive performance for CVEs than other parameters.
5.Association of Triglyceride Glucose-Derived Indices with Recurrent Events Following Atherosclerotic Cardiovascular Disease
Sha LI ; Hui-Hui LIU ; Yan ZHANG ; Meng ZHANG ; Hui-Wen ZHANG ; Cheng-Gang ZHU ; Yuan-Lin GUO ; Na-Qiong WU ; Rui-Xia XU ; Qian DONG ; Ke-Fei DOU ; Jie QIAN ; Jian-Jun LI
Journal of Obesity & Metabolic Syndrome 2024;33(2):133-142
Background:
Triglyceride glucose (TyG) and TyG-body mass index (TyG-BMI) are reliable surrogate indices of insulin resistance and used for risk stratification and outcome prediction in patients with atherosclerotic cardiovascular disease (ASCVD). Here, we inserted estimated average glucose (eAG) into the TyG (TyAG) and TyG-BMI (TyAG-BMI) as derived parameters and explored their clinical significance in cardiovascular risk prediction.
Methods:
This was a population-based cohort study of 9,944 Chinese patients with ASCVD. The baseline admission fasting glucose and A1C-derived eAG values were recorded. Cardiovascular events (CVEs) that occurred during an average of 38.5 months of follow-up were recorded. We stratified the patients into four groups by quartiles of the parameters. Baseline data and outcomes were analyzed.
Results:
Distribution of the TyAG and TyAG-BMI indices shifted slightly toward higher values (the right side) compared with TyG and TyG-BMI, respectively. The baseline levels of cardiovascular risk factors and coronary severity increased with quartile of TyG, TyAG, TyG-BMI, and TyAG-BMI (all P<0.001). The multivariate-adjusted hazard ratios for CVEs when the highest and lowest quartiles were compared from low to high were 1.02 (95% confidence interval [CI], 0.77 to 1.36; TyG), 1.29 (95% CI, 0.97 to 1.73; TyAG), 1.59 (95% CI, 1.01 to 2.58; TyG-BMI), and 1.91 (95% CI, 1.16 to 3.15; TyAG-BMI). The latter two showed statistical significance.
Conclusion
This study suggests that TyAG and TyAG-BMI exhibit more information than TyG and TyG-BMI in disease progression among patients with ASCVD. The TyAG-BMI index provided better predictive performance for CVEs than other parameters.
6. Molecular mechanism of a Matijin-su derivative for inhibiting proliferation, invasion and migration of prostate cancer cells
Cai-Hong WU ; Jia YU ; Sha CHENG ; Lan-Lan LI ; Bi-Xue XU ; Heng LUO ; Cai-Hong WU ; Lan-Lan LI ; Jia YU ; Sha CHENG ; Bi-Xue XU ; Heng LUO ; Ming-Fei YANG
Chinese Pharmacological Bulletin 2023;39(3):453-462
Aim To investigate the effects of HXL130 on the proliferation, invasion and migration of prostate cancer PC3 cells and its molecular mechanism. Methods MTT assay was used to detect the effect of HXL130 on the proliferation of prostate cancer PC3 cells. Hoechst 33258 staining and flow cytometry were used to detect the effects on apoptosis and cell cycle of cancer cells. Transwell was used to detect the effects of compounds on the invasion and migration of cancer cells. Proteomic sequencing was employed to detect differentially expressed proteins (DEPs) induced by compound treatment of cancer cells. Bioinformatics was used to analyze the functions of DEPs and the related signaling pathways regulated by DEPs, and Western blot was used to verify the result. Results The survival rate of PC3 cells decreased with the increase of HXL130 concentration and treatment time. HXL130 could significantly induce cell apoptosis and block G
7.Influence of axial rotation on measurement of medial proximal tibial angle.
Rui-Yong DU ; Sha WU ; Qi MA ; Pu LIU ; Feng JING ; Xu CAI
China Journal of Orthopaedics and Traumatology 2023;36(12):1165-1168
OBJECTIVE:
To measure and compare medial proximal tibial angle (MPTA) of lower limbs under different axial rotation angles(neutral position, 30° internal rotation, 30° external rotation) on the load position radiographs, and explore changes and significance of MPTA measured within and between groups of tibia at different axial rotation positions.
METHODS:
From January 2018 to December 2018, 40 patients with knee osteoarthritis (KOA) were selected, with a total of 80 limbs, including 12 males and 28 females, aged from 29 to 73 years old with an average of (59.6±12.7) years old. Full length radiographs of the lower limbs were taken on neutral tibia position, 30° internal rotation and 30° external rotation, respectively. MPTA was measured and the results were compared between groups and within groups.
RESULTS:
MPTA measured on the left lower extremity of neutral tibia, 30° internal rotation and 30° external rotation were (86.08±2.48) °, (88.62±2.94) ° and (83.47±3.10) °, respectively. MPTA measured on the right lower limb were (86.87±1.97) °, (89.02±2.39) ° and (83.80±2.77) °, respectively, and there were no significant difference in MPTA measured between rotation angle group (P>0.05). While there were statistical difference in MPTA on the same limb between groups (P<0.05). On 30° internal rotation, MPTA of left and right lower limbs increased by (2.54±1.74) ° and (2.15±1.78) ° compared with tibia neutral position. On 30° external rotation, MPTA of left and right lower limbs decreased (2.61±2.03) ° and (3.07±1.75) ° compared with tibial neutral position.
CONCLUSION
When a full-length X-ray film is taken on the weight-bearing position of both lower limbs, if there is axial rotation or external rotation of tibia, MPTA will increase or decrease compared with neutral position, which may cause a certain degree of deviation in clinical operation based on the accurate measurement of MPTA. However, the extent to which this bias affects the clinical operation effect remains to be verified. In addition, limited by the total number of samples and the number of measurement groups, whether there is a linear relationship between MPTA deviation and tibial axial rotation needs to be further studied.
Male
;
Female
;
Humans
;
Adult
;
Middle Aged
;
Aged
;
Tibia/surgery*
;
Lower Extremity
;
Osteoarthritis, Knee/surgery*
;
Radiography
;
Osteotomy/methods*
;
Knee Joint/surgery*
;
Retrospective Studies
8.Clinical and molecular biological characterization of patients with accelerated chronic lymphocytic leukemia.
Zi Yuan ZHOU ; Luo Meng Jia DAI ; Ye Qin SHA ; Tong Lu QIU ; Shu Chao QIN ; Yi MIAO ; Yi XIA ; Wei WU ; Han Ning TANG ; Wei XU ; Jian Yong LI ; Hua Yuan ZHU
Chinese Journal of Hematology 2023;44(11):917-923
Objective: To investigate the clinical and molecular biological characteristics of patients with accelerated chronic lymphocytic leukemia (aCLL) . Methods: From January 2020 to October 2022, the data of 13 patients diagnosed with aCLL at The First Affiliated Hospital of Nanjing Medical University were retrospectively analyzed to explore the clinical and molecular biological characteristics of aCLL. Results: The median age of the patients was 54 (35-72) years. Prior to aCLL, five patients received no treatment for CLL/small lymphocytic lymphoma (SLL), while the other patients received treatment, predominantly with BTK inhibitors. The patients were diagnosed with aCLL through pathological confirmation upon disease progression. Six patients exhibited bulky disease (lesions with a maximum diameter ≥5 cm). Positron emission tomography (PET) -computed tomography (CT) images revealed metabolic heterogeneity, both between and within lesions, and the median maximum standardized uptake value (SUVmax) of the lesion with the most elevated metabolic activity was 6.96 (2.51-11.90). Patients with unmutated IGHV CLL accounted for 76.9% (10/13), and the most frequent genetic and molecular aberrations included +12 [3/7 (42.9% ) ], ATM mutation [6/12 (50% ) ], and NOTCH1 mutation [6/12 (50% ) ]. Twelve patients received subsequent treatment. The overall response rate was 91.7%, and the complete response rate was 58.3%. Five patients experienced disease progression, among which two patients developed Richter transformation. Patients with aCLL with KRAS mutation had worse progression-free survival (7.0 month vs 26.3 months, P=0.015) . Conclusion: Patients with aCLL exhibited a clinically aggressive course, often accompanied by unfavorable prognostic factors, including unmutated IGHV, +12, ATM mutation, and NOTCH1 mutation. Patients with CLL/SLL with clinical suspicion of disease progression, especially those with bulky disease and PET-CT SUVmax ≥5, should undergo biopsy at the site of highest metabolic uptake to establish a definitive pathological diagnosis.
Humans
;
Middle Aged
;
Aged
;
Leukemia, Lymphocytic, Chronic, B-Cell/genetics*
;
Positron Emission Tomography Computed Tomography
;
Retrospective Studies
;
Biopsy
;
Disease Progression
9.Evaluation of knee cartilage based on MRI artificial intelligence reconstruction model of knee joint
Hong GAO ; Binge XUE ; Sha WU ; Yakui WANG ; Pengfei FU ; Le SHEN ; Jiawang LOU ; Qi MA ; Pu LIU ; Xu CAI
Chinese Journal of Orthopaedics 2023;43(5):316-321
Objective:To explore the feasibility of the AI intelligent reconstruction model based on knee joint magnetic resonance data developed by Nuctech Company Limited for evaluating knee cartilage injury.Methods:Thirty-three patients (a total of forty-one knees) who were hospitalized with severe knee osteoarthritis in Beijing Tsinghua Changgung Hospital from May 2021 to April 2022 were selected. All of them were planned to be performed total knee arthroplasty (TKA) for the treatment of knee osteoarthritis. Fifteen males with an average age of 71±5 years old and twenty six females with an average age of 71±9 years old were included in this study. There were 19 cases of left knee and 22 cases of right knee. Thin layer MRI examination on the patients' knee joints was performed before the surgery, and artificial intelligence model based on the thin layer MRI data of the knee joint was reconstructed. The cartilage part of the model was selected and corrected by Principal Component Analysis (PCA) in order to realize model straightening. The tibial plateau cartilage of knee joint which intercepted during operation was classified according to the International Cartilage Repair Society (ICRS). Finally the results were compared with the ICRS classification results of knee artificial intelligence reconstruction model and artificial recognition of knee joint MRI images.Results:Compared with the grade of cartilage injury intercepted during our operation which was according to the ICRS classification, the sensitivity of artificial intelligence reconstruction model for the diagnosis of cartilage injury with ICRS classification grade four was 93.1%. The specificity of artificial intelligence reconstruction model was 91.4%. The positive predictive value (PPV) of artificial intelligence reconstruction model was 92.2%. And the negative predictive value (NPV) of artificial intelligence reconstruction model was 80.3%. The area under ROC curve (AUC) was 0.92. The ICRS classification consistency between artificial intelligence model and physical inspection results was good with kappa value 0.81 ( P<0.001) . In the aspect of artificial recognition of cartilage injury grading in MRI images, the sensitivity of artificial recognition was 92.10% compared with the manual identification of cartilage injury classification in MRI images. The specificity of artificial recognition was 91.60%. The positive predictive value (PPV) of artificial recognition was 97.20% and the negative predictive value (NPV) of artificial recognition was 78.8%. The kappa value of the cartilage injury classification in MRI images consistency between artificial recognition and manual identification was 0.79 ( P<0.001). Conclusion:Based on the evaluation of cartilage injury by AI reconstruction model of knee joint, the sensitivity and specificity of the diagnosis of ICRS grade IV cartilage injury can be acceptable, but still needs to be improved.
10.Metabolic Disease Management Guideline for National Metabolic Management Center(2nd edition)
Weiqing WANG ; Yufan WANG ; Guixia WANG ; Guang NING ; Dalong ZHU ; Ping LIU ; Libin LIU ; Jianmin LIU ; Zhaoli YAN ; Xulei TANG ; Bangqun JI ; Sunjie YAN ; Heng SU ; Jianling DU ; Sheli LI ; Li LI ; Shengli WU ; Jinsong KUANG ; Yubo SHA ; Ping ZHANG ; Yifei ZHANG ; Lei CHEN ; Zunhai ZHOU ; Chao ZHENG ; Qidong ZHENG ; Zhongyan SHAN ; Dong ZHAO ; Zhigang ZHAO ; Ling HU ; Tingyu KE ; Yu SHI ; Yingfen QIN ; Mingjun GU ; Xuejiang GU ; Fengmei XU ; Zuhua GAO ; Qijuan DONG ; Yi SHU ; Yuancheng DAI
Chinese Journal of Endocrinology and Metabolism 2023;39(6):538-554
The latest epidemiological data suggests that the situation of adult diabetes in China is severe, and metabolic diseases have become significant chronic illnesses that have a serious impact on public health and social development. After more than six years of practice, the National Metabolic Management Center(MMC) has developed distinctive approaches to manage metabolic patients and has achieved a series of positive outcomes, continuously advancing the standardized diagnosis and treatment model. In order to further improve the efficiency, based on the first edition, the second edition guideline was composed by incorporating experience of the past six years in conjunction with the latest international and domestic guidelines.

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