1.Mechanism of Shenqi Dihuangtang in Blocking Renal Fibrosis Injury in Diabetic Kidney Disease Mediated by Epithelial-mesenchymal Transition Through Inhibiting TGF-β1/Smad Signaling Axis
Liangjing LIU ; Haolan LIU ; Xiaoling MAO ; Min YU ; Weitong YAN ; Chao LI
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(7):32-45
ObjectiveThis paper aims to study the potential active compound components and action mechanism of Shenqi Dihuangtang in the treatment of diabetic kidney disease (DKD) through network pharmacology and in vivo experimental verification. MethodsUltra-high-performance liquid chromatography-Q-exactive orbitrap mass spectrometry (UPLC-Q-Exactive Orbitrap MS) technology was used to clarify the main active chemical components of Shenqi Dihuangtang, and it was combined with network pharmacology methods such as gene ontology (GO) functional annotations and Kyoto encyclopedia of genes and genome (KEGG) to predict the potential action mechanism of Shenqi Dihuangtang in treating DKD. Subsequently, the DKD model of db/db male mice was established, and the mice were randomly divided into model group, low-dose Shenqi Dihuangtang group (6.10 g·kg-1), medium-dose Shenqi Dihuangtang group (12.19 g·kg-1), high-dose Shenqi Dihuangtang group (24.38 g·kg-1), and daplizin group (1.25 mg·kg-1). During the same period, C57BL/6J male mice were selected into normal group and received drug intervention for 8 weeks, respectively. During this period, the body weight and fasting blood glucose (FBG) of the mice were dynamically monitored, and oral glucose tolerance test (OGTT) and insulin tolerance test (ITT) were performed at the end of dosing. The levels of serum creatinine (SCr), blood urea nitrogen (BUN), uric acid (UA), albumin (ALB), and total protein (TP) were measured by an automatic biochemical analyzer, and 24-hour urine protein was measured by a urine protein quantitative kit. Hematoxylin-eosin (HE), periodic-acid Schiff (PAS), and Masson staining were employed to observe the renal histopathology. The expression of nephrotic protein Nephrin was observed by immunohistochemistry. Western blot was used to detect the expression of epithelial-mesenchymal transition (EMT)-related proteins such as TGF-β1, Smad2/3, α-smooth muscle actin (α-SMA), neural-cadherin (N-Cadherin), and snail protein. ResultsUPLC-Q-Exactive Orbitrap MS identified 384 active compounds in the aqueous extract of Shenqi Dihuangtang. According to oral bioavailability≥30% and the five drug-like principles, 44 key active ingredients were screened out, and 169 intersection targets highly correlated with DKD were matched. Among them, there was a significant interaction relationship between tumor necrosis factor(TNF), interleukin(IL)-6, protein kinase B(Akt)1, Caspase-3, Jun proto-oncogene (JUN), hypoxia inducible factor-1α(HIF-1α), B cell lymphoma-2(Bcl-2), matrix metallopeptidase-9(MMP-9), IL-1β, and TGF-β1. GO functional annotations were significantly enriched in cellular components such as membrane rafts, membrane microdomains, and collagen-containing extracellular matrix, molecular functions such as DNA-binding transcription factor binding, R-Smad binding, and Smad protein binding, as well as biological processes such as reactions to lipopolysaccharides(LPS), reactions to bacteria-derived molecules, and wound healing. The KEGG pathway was significantly enriched in lipids and atherosclerosis, TGF-β signaling pathway, phosphatidylinositol 3 kinase (PI3K)/Akt signaling pathway, etc. In vivo experimental results showed that the high-dose Shenqi Dihuangtang group could significantly reduce FBG levels in db/db mice (P<0.01), improve OGTT (P<0.01) and ITT (P<0.01) levels, reduce SCr (P<0.01), BUN (P<0.01), UA (P<0.01) and 24-hour BUN (P<0.01), and increase ALB (P<0.01) and TP (P<0.01) levels. Pathological staining confirmed that the high-dose Shenqi Dihuangtang group could significantly reduce the glomerular mesangial matrix area and collagen deposition (P<0.01) and upregulate the positive expression rate of Nephrin (P<0.01). Western blot results showed that the high-dose Shenqi Dihuangtang group significantly downregulated the expression of TGF-β1 (P<0.01) and Smad2/3 (P<0.01) signal molecules and inhibited the protein levels of α-SMA (P<0.01), N-Cadherin (P<0.01), and Snail (P<0.01). ConclusionShenqi Dihuangtang can inhibit the TGF-β1/Smad signaling axis and block the renal EMT process, thereby improving DKD renal fibrosis damage. Further analysis of its key active components and clinical transformation pathways is needed in the future.
2.Association of outdoor activity time and sleep duration with screening myopia in primary school students
LIU Xiaoling, LI Tingting, CAO Caiyun, YANG Feng, TAO Shuman, WU Xiaoyan, XU Shaojun, TAO Fangbiao
Chinese Journal of School Health 2026;47(2):279-282
Objective:
To explore the association of outdoor activity time and sleep duration with screening myopia in primary school students, so as to provide strategies for myopia prevention.
Methods:
Through a convenience sampling method, a survey was conducted among 4 248 primary school students aged 7-13 years from three primary schools in Xihu District, Nanchang City, Jiangxi Province from May to July, 2023. The average daily outdoor activity time and sleep duration on both weekdays and weekends were investigated in primary school students by using a self designed questionnaire. Uncorrected visual acuity tests and non cycloplegic autorefraction were measured by professional optometrists. Inter group comparisons were conducted using the Chi square test. Logistic regression model was used to analyze the association of outdoor activity time and sleep duration with screening myopia.
Results:
The detection rate of screening myopia in primary school students was 33.6%, with the rate in boys (32.0%) lower than that in girls (35.3%), and the difference was statistically significant ( χ 2=5.11, P =0.02). The analysis results of Logistic regression showed that after adjusting for factors such as gender, grade and parental education level, both average daily outdoor activity time <2 h on both weekdays and weekends ( OR =1.27, 95% CI =1.11-1.46) and sleep duration <10 h ( OR =1.17, 95% CI =1.01- 1.35 ), as well as their combined effect ( OR =1.57, 95% CI =1.25-1.98), were associated with an increased risk of screening myopia in primary school students(all P <0.05). Subgroup analysis results indicated that compared to boys ( OR =1.46, 95% CI = 1.07 -1.99), girls( OR =1.73, 95% CI =1.22-2.44) with insufficient outdoor activity time and sleep duration had a higher risk of screening myopia(both P <0.05).
Conclusions
There is a negative correlation of outdoor activity time and sleep duration with screening myopia in primary school students. Outdoor activity time and extending sleep duration should be increased to reduce the risk of myopia in primary school students.
3.Precise identification of a cryptic balanced translocation in a couple with recurrent spontaneous abortions using C-MoKa technique.
Rui FAN ; Yaru LIU ; Tingting JI ; Xiaojuan XU ; Xuening DING ; Xiaoling MA
Chinese Journal of Medical Genetics 2026;43(1):64-69
OBJECTIVE:
Chromosome conformation-based karyotype analysis (C-MoKa) technology was used to test a couple who had experienced multiple adverse pregnancies in order to provide them with genetic counseling and reproductive guidance.
METHODS:
A couple presented at the Reproductive Medicine Center of the First Hospital of Lanzhou University in 2023 was selected as the study subject. Through C-MoKa testing, copy number variation sequencing (CNV-seq), and preimplantation genetic testing for aneuploidy (PGT-A), it was found that the couple's repeatedly miscarried fetuses and abnormal embryos exhibited highly similar chromosomal structural abnormalities. Using C-MoKa, the potential genetic abnormalities in both partners were traced, and reproductive guidance was provided based on the result. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: LDYYSZLLKH2025-09).
RESULTS:
CNV-seq analysis of the couple's miscarriage fetal chorionic villi showed del(18)(q21.2q23)(28.90 Mb) and dup(13)(q31.2q34)(26.26 Mb). Chromosomal karyotyping analysis of both partners showed no abnormality. From 2024 to 2025, the couple underwent three rounds of PGT-A assisted reproduction. The first embryo test showed del(13)(q31.2q34)(26.77 Mb) and dup(18)(q21.2q23)(29.08 Mb). The second embryo test showed dup(13)(q31.2q34)(26.26 Mb) and del(18)(q21.2q23)(28.90 Mb). And the third embryo test results showed complex chromosomal abnormalities. In 2025, after genetic counseling, the couple had opted C-MoKa test, which has detected no abnormality in the wife, but a balanced 46,XY,t(13;18)(q31.2;q21.2) translocation in the husband.
CONCLUSION
As a high-throughput sequencing method based on the three-dimensional conformation of chromatin, C-MoKa has the advantages of high resolution and high accuracy, and can accurately detect balanced translocations with similar banding patterns. It has therefore offered a powerful new tool for chromosomal analysis.
Female
;
Humans
;
Male
;
Pregnancy
;
Abortion, Habitual/genetics*
;
DNA Copy Number Variations
;
Karyotyping/methods*
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Preimplantation Diagnosis
;
Translocation, Genetic
4.Effect of 12-year-old children s pit and fissure sealants on the health of first permanent molars
LIU Jing, WEI Yonglan, QIAN Wen, HE Xiaoling, QIN Wenlong, WANG Liang
Chinese Journal of School Health 2026;47(1):100-103
Objective:
To assess the effect of 12-year-old children s pit and fissure sealants on the health of first permanent molars, so as to provide evidence for optimizing caries prevention strategies among children.
Methods:
In March 2025, a cluster random sampling method was used to conduct oral examinations on 965 students aged 12 from Chengdu s 2021 Comprehensive Intervention Program for Pediatric Oral Diseases. Data from the Comprehensive Intervention System for Children s Oral Diseases were referenced. Participants were divided into a sealed group ( n =755) and an unsealed group ( n =210) based on whether they had received sealants on their first permanent molars. Chi square test or analysis of variance were used to compare indicators such as caries incidence, new caries detection rate, and new caries mean (DMFT increment) between the two groups
Results:
The sealed group showed significantly lower caries incidence, new caries detection rate, and new caries mean (33.38%, 17.65%, 0.59±1.00) compared to the unsealed group (43.81%, 24.70%, 0.87±1.22)( χ 2/F =7.79, 18.26, 9.55, all P <0.05). However, no significant difference was found in the filled teeth ratio between the two groups (20.38% , 20.16%; χ 2=0.01, P =0.94). In girls, the sealed group exhibited significantly lower caries incidence, new caries detection rate, and new caries mean (36.78%, 20.99%, 0.69± 1.10 ) than the unsealed group (57.55%, 33.52%, 1.15±1.29) ( χ 2/F =14.42, 23.76, 10.92, all P <0.05), whereas no significant differences were observed between boys in the sealed (30.47%, 14.85%, 0.50±0.89) and unsealed groups (29.81%, 16.18%, 0.59± 1.08) ( χ 2/F =0.02, 0.41, 0.74, all P >0.05). Boys had significantly lower new caries detection rates and new caries means than girls in both groups ( χ 2/F =16.20, 6.94; 29.93, 11.84, all P <0.05). In urban areas, the sealed group had lower new caries detection rates and new caries means (19.37%, 0.68±1.04) than the unsealed group (24.66%, 0.90±1.20) ( χ 2/F =6.86, 3.94, both P <0.05). In suburban areas, all indicators for the sealed group (24.71%, 13.77%, 0.42±0.87) were significantly lower than those for the unsealed group (38.81%, 24.77%, 0.82±1.28) ( χ 2/F =5.28, 15.36, 6.00, all P <0.05). Indicators from specialized dental institutions (11.25%, 4.81%, 0.16±0.56) were significantly lower than those from county level or above general hospitals (33.33%, 19.11%, 0.38±1.00) and primary healthcare institutions (37.59%, 19.24%, 0.67±1.05) ( χ 2/F =20.99, 34.31, 21.08 , all P <0.01).
Conclusions
The 12-year-old children s pit and fissure sealants effectively reduce the caries incidence in first permanent molars, particularly showing significant effectiveness in girls and suburban children. Intervention strategies should be optimized according to gender.
5.Investigation of Specific Antibody Levels of Autoimmune Gastritis and Analysis of Influencing Factors in A Community Population in Xinjiang
Huan LIU ; Xiaoling HUANG ; AI HEMAIJIANG KURBANJIANG ; Yan FENG ; Weidong LIU ; Shenglong XUE ; Zequan XIAO ; AINI ABDUREIM ; Xinwen GUO ; Maosen JIANG ; Feng GAO
Medical Journal of Peking Union Medical College Hospital 2026;17(4):1042-1050
To investigate the positivity rates of specific antibodies, including parietal cell antibody (PCA) and anti-inner factor antibody (IFA), in a community population in Xinjiang for autoimmune gastritis (AIG), determine the prevalence of AIG, and analyze the correlations of PCA and IFA with clinical characteristics, pepsinogen (PG), gastrin 17 (G17), and A cross-sectional survey was conducted using stratified random cluster sampling in community populations across 10 regions of Xinjiang from January 2022 to December 2023. General information was collected via a self-designed questionnaire, and fasting venous blood samples were obtained to measure laboratory parameters including PCA, IFA, PG Ⅰ, PG Ⅱ, PG Ⅰ/PG Ⅱ ratio, and G17. The positivity rates of PCA and IFA and the prevalence of AIG were calculated. Spearman correlation analysis was used to assess the relationships of PCA and IFA with PG Ⅰ, PG Ⅱ, PG Ⅰ/PG Ⅱ ratio, and G17. The diagnostic efficacy of PCA and IFA for atrophic gastritis was evaluated using receiver operating characteristic (ROC) curves, and multivariate logistic regression analysis was performed to identify factors influencing PCA and IFA positivity. A total of 2018 community participants were included, comprising 972 males (48.17%) and 1046 females (51.83%), with a mean age of 42±19 years. The predominant ethnic groups were Han (42.22%) and Kazakh (33.10%). Hp-Ab positivity was observed in 1244 cases (61.65%). Serological criteria for atrophic gastritis were met in 56 cases (2.78%). PCA positivity was found in 253 cases (12.54%), IFA positivity in 30 cases (1.49%), and dual positivity in 11 cases (0.55%). A total of 617 participants (30.57%) voluntarily underwent endoscopic examination, among whom 7 cases (1.13%) were histopathologically confirmed as AIG. Positivity rates for PCA and IFA varied among ethnic groups, with the highest rates observed in the Kirgiz population (23.53% and 5.88%, respectively). Spearman correlation analysis revealed that PCA was negatively correlated with the PG Ⅰ/PG Ⅱ ratio ( The positivity rate of PCA is relatively high in the community population in Xinjiang and varies across different ethnic groups, whereas the positivity rate of IFA is lower than that of PCA. Age, history of alcohol consumption, history of allergies, and history of thyroid disease are associated with PCA positivity, while no correlation was found between Hp-Ab and PCA or IFA. The prevalence of histopathologically confirmed AIG among participants undergoing endoscopic examination is 1.13%.
6.Qige San Regulates miR-133a/PI3K/Akt Signaling Pathway-mediated Tumor Angiogenesis to Treat Esophageal Cancer
Yuhui HAN ; Xiaoling GAO ; Dandan LI ; Xianghua LIU ; Yumeng WEI ; Yulong CHEN
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(23):12-23
ObjectiveTo observe the mechanism through which Qige San inhibits tumor angiogenesis in esophageal cancer (EC) by regulating the microRNA-133a (miR-133a)/phosphatidylinositol 3-kinase (PI3K)/protein kinase B (Akt) signaling pathway. MethodsCell experiments were conducted by transfecting miR-133a mimics through liposomes and utilizing PI3K/Akt signaling pathway inhibitors. The effects of 60 mg·L-1 and 100 mg·L-1 Qige San on inflammatory factor secretion in the supernatant of EC9706 cells (esophageal cancer cells) were observed. EC9706 cell supernatants were then extracted and used as conditioned media to treat human umbilical vein endothelial cells (HUVECs). The effects of the conditioned media on the proliferation, migration, tube formation, and apoptosis of HUVECs were examined. Animal experiments involved establishing a subcutaneous tumor model in nude mice with EC9706 cells. After grouping and administration, tumor volumes were measured regularly. At the end of the experiment, tumors were harvested, and histopathological changes were observed under a microscope after hematoxylin-eosin (HE) staining. Real-time polymerase chain reaction (Real-time PCR) was adopted to measure miR-133a expression in the tumor tissue of each group, while Western blotting was employed to analyze the expression of key signaling molecules, such as phosphorylated Akt (p-Akt), as well as endothelial cell markers, cluster of differentiation 31 (CD31) and cluster of differentiation 34 (CD34), in the tumor tissue. ResultsCell experiments showed that compared with the blank group, the supernatant of EC9706 cells promoted tube formation of HUVECs (P<0.05). Both low and high doses of Qige San inhibited tube formation of HUVECs (P<0.05). All doses of Qige San, PI3K/Akt inhibitor, and the combination reduced the content of interleukin-6 (IL-6) (P<0.05), while high-dose Qige San, inhibitor, and combination all reduced the content of interleukin-8 (IL-8) (P<0.05). Compared with the EC9706 blank supernatant group, Qige San-conditioned medium inhibited the proliferation of HUVECs (P<0.05). Qige San, the inhibitor, and the combination all inhibited the migration and tube formation (P<0.05) and increased the late apoptosis and total apoptosis rates of HUVECs (P<0.05). In addition, the low-dose combination induced early apoptosis of EC9706 cells (P<0.05). Compared with the blank supernatant group, the miR-133a mimic combined with Qige San synergistically reduced IL-6/IL-8 (P<0.05), and enhanced the inhibition on proliferation, migration, and tube formation of HUVECs (P<0.05). Animal experimental results showed that compared with the model group, both Qige San and cisplatin inhibited the growth of xenograft tumors in nude mice (P<0.05), promoted tumor cell necrosis, and reduced capillary formation. High-dose Qige San upregulated miR-133a expression (P<0.05). Moreover, compared with the model group, cisplatin, Qige San, and the combination all downregulated the expression of p-Akt, CD31, and CD34 (P<0.05). ConclusionQige San upregulates miR-133a expression, inhibit PI3K/Akt signaling pathway activity, and improve the tumor inflammatory microenvironment to suppress the growth and tumor angiogenesis of HUVECs, thereby inhibiting esophageal cancer.
7.The relationship between umbilical cord blood RANTES,CyPA and the occurrence of NBI in neonates delivered by puerperant women with premature rupture of membranes combined with intrauterine infection
International Journal of Laboratory Medicine 2025;46(4):443-447
Objective To investigate the relationship between umbilical cord blood regulated upon activa-tion normal T cell expressed and secreted(RANTES),cyclophilin A(CyPA)and neonatal brain injury(NBI)in neonates delivered by puerperant women with premature rupture of fetal membrane(PROM)and intrau-terine infection(IAI).Methods A total of 157 puerperant women with PROM and IAI who gave birth in the hospital from January 2022 to March 2024 were selected as the experimental group.Another 80 healthy partu-rients were selected as the control group.Neonates delivered by puerperant women with PROM and IAI were divided into NBI group(61 cases)and non-NBI group(96 cases)according to whether or not NBI occurred.The levels of RANTES and CyPA in umbilical cord blood were detected.NBI in neonates delivered by puerp-erant women with PROM and IAI was used as the dependent variable,and the influencing factors were deter-mined by multivariate Logistic regression analysis.Receiver operating characteristic(ROC)curve was drawn to analyze the predictive value of umbilical cord blood RANTES and CyPA levels for NBI in neonates delivered by puerperant women with PROM and IAI.Results Compared with neonates delivered in control group,the levels of RANTES and CyPA in umbilical cord blood of neonates delivered in experimental group were in-creased,and the differences were statistically significant(P<0.05).PROM type,1 min Apgar score,procalci-tonin(PCT),C-reactive protein,RANTES,CyPA were associated with NBI in the neonates delivered by puer-perant women with PROM and IAI(P<0.05).The independent risk factors for NBI were increased Apgar score within 1 min(P<0.05),and the independent protective factors were increased PCT,R ANTES and CyPA(P<0.05).ROC curve analysis results showed that the area under the curve of umbilical cord blood RANTES and CyPA combined to predict the occurrence of NBI in neonates delivered by puerperant women with PROM and IAI was 0.874,which was larger than the 0.787 and 0.791 predicted by umbilical cord blood RANTES and CyPA alone(Z=3.248,2.801,P=0.001,0.005).Conclusion Umbilical cord blood RANTES and CyPA have high predictive efficacy for NBI in neonates delivered by puerperant women with PROM and IAI.
8.Correlation between serum HIPK2,ANXA5 and the degree of coronary stenosis and prognosis in patients with acute myocardial infarction
Suna SHI ; Jingmiao BAI ; Xiaojuan LIN ; Mei DONG ; Zili GUO ; Zhenlian LI ; Xiaoling LIU ; Yuanyuan LIU
International Journal of Laboratory Medicine 2025;46(22):2753-2758
Objective To investigate the correlation between serum homeodomain interacting protein ki-nase 2(HIPK2),annexin A5(ANXA5)and coronary stenosis and prognosis in patients with acute myocardial infarction(AMI).Methods A total of 277 AMI patients who received interventional treatment in this hospi-tal from January 2021 to July 2023 were selected as the AMI group,and another 140 cases with normal or very mild stenosis in coronary angiography during the same period were selected as the control group.According to the degree of coronary artery stenosis(Gensini score),the AMI patients were divided into mild coronary arter-y stenosis group(86 cases),moderate coronary artery disease group(111 cases)and severe coronary artery disease group(80 cases).According to the prognosis,they were divided into poor prognosis group(80 cases)and good prognosis group(197 cases).Enzyme-linked immunosorbent assay was used to detect the serum HIPK2 and ANXA5 levels.Spearman correlation analysis was used to analyze the correlation between serum HIPK2 and ANXA5 levels and Gensini score in patients with AMI.Multivariate unconditional Logistic regres-sion was used to determine the relationship between serum HIPK2 and ANXA5 levels and prognosis of AMI patients.Receiver operating characteristic(ROC)curve was used to analyze the predictive efficiency of serum HIPK2 and ANXA5 levels on prognosis of AMI patients.Results Compared with the control group,the ser-um HIPK2 level in the AMI group increased and the ANXA5 level decreased,and the differences were statisti-cally significant(P<0.05).The serum HIPK2 levels in the mild coronary artery stenosis group,moderate coronary artery stenosis group and severe coronary artery stenosis group increased successively,while the ANXA5 levels decreased successively,and the differences were statistically significant(P<0.05).Gensini score was positively correlated with serum HIPK2 level and negatively correlated with serum ANXA5 level in AMI patients(P<0.05).The Gensini score of AMI patients was positively correlated with the serum HIPK2 level(r=0.785,P<0.05),and negatively correlated with the serum ANXA5 level(r=-0.798,P<0.05).Compared with the good prognosis group,the serum HIPK2 level in the poor prognosis group increased(P<0.05),and the ANXA5 level decreased(P<0.05).After adjusting for confounding factors,high HIPK2 was an independent risk factor for poor prognosis in AMI patients(P<0.05),and high ANXA5 was an independ-ent protective factor(P<0.05).The area under the curve of the combined prediction of serum HIPK2 and ANXA5 levels for the prognosis of AMI patients was 0.875,which was greater than 0.778 and 0.784 predic-ted by serum HIPK2 and ANXA5 levels alone(P<0.05).Conclusion The serum HIPK2 level is increased and the ANXA5 level is decreased in patients with AMI,which is related to the aggravation of coronary steno-sis and the poor prognosis.The combination of serum HIPK2 and ANXA5 levels is more effective in predic-ting the prognosis of patients with AMI.
9.Effects and Mechanism of Quercetin on Osteogenic Differentiation of BMSCs
Jingxiao XU ; Jia LIU ; Shu YAO ; Xi ZHANG ; Jiang LI ; Guiqin CUI ; Xiaoling YI ; Dongyun LI
Journal of Kunming Medical University 2025;46(5):30-37
Objective To explore the effect and mechanism of quercetin on osteogenic differentiation of bone marrow mesenchymal stem cells(BMSCs).Methods BMSCs were divided into a blank control group(Control)and quercetin(Quercetin)low-dose group(4.8 mL/kg),medium-dose group(9.6 mL/kg),and high-dose group(19.2 mL/kg)intervened with drug-containing serum,while the positive control group was treated with osteogenic differentiation medium,respectively.The cell cycle was analysed by flow cytometry,cell proliferation was detected by MTT assay,cell activity was determined by Alkaline phosphatase(ALP)assay kit,and calcified nodule formation was observed by alizarin red staining.The expression of β-catenin and the key factors of osteogenic differentiation,runt-related transcription factor 2(RUNX2)and osteocalcin(OCN),were detected by qPCR and Western blot,respectively.Results Compared with the control group,quercetin-containing serum significantly promoted the proliferation of BMSCs(P=0.000205,P=0.000063)and enhanced the formation of calcium nodules,and increased osteogenic and ALP activity after osteogenic differentiation.The results of qPCR and Western blot showed that the quercetin group significantly up-regulated the mRNA and protein expression of β-catenin(P<0.0001),RUNX2(P<0.0001)and OCN(P<0.0001)during osteogenic differentiation.Conclusion Quercetin can effectively promote the osteogenic differentiation of BMSCs,and its mechanism is achieved by activating the Wnt/β-catenin signaling pathway and up-regulating the expression of the osteogenesis-related transcription factor RUNX2.
10.Analysis of a Chinese pedigree affected with X-linked cardiac valve dysplasia (CVDPX) and congenital chronic pseudo intestinal obstruction (CIIPX) due to a c.443A>G variant of FLNA gene.
Tingting JI ; Jiao LIU ; Yabing ZHANG ; Qimin TIAN ; Bin MAO ; Xiaoling MA
Chinese Journal of Medical Genetics 2025;42(5):603-607
OBJECTIVE:
To explore the genetic etiology for a Chinese pedigree affected with X-linked cardiac valve dysplasia (CVDPX) and congenital chronic pseudo intestinal obstruction (CIIPX).
METHODS:
A pedigree presented at the First Hospital of Lanzhou University for CVDPX combined with CIIX was selected as the study subject. Whole exome sequencing (Trio-WES) was carried out, and the candidate variant was verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of the First Hospital of Lanzhou University (Ethics No. LDYYSZLLKH2024-15).
RESULTS:
Both the proband and his affected younger brother were found to harbor a hemizygous c.443A>G (p.Tyr148Cys) variant of the FLNA gene, for which their mother was heterozygous and their father was not a carrier, suggesting an X-linked recessive inheritance pattern. The variant was not recorded in the OMIM and ClinVar databases, and was determined to be likely pathogenic (PM2+PS4+PP2+PP3) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). The patients had presented with typical CVDPX/CIIPX phenotype, including multiple valve dysplasia and chronic pseudo intestinal obstruction, in addition with gallbladder wall edema and thickening. Bioinformatic analysis showed that the variant site is highly conserved, and multiple algorithms had predicted its pathogenicity.
CONCLUSION
This study confirmed the diagnosis of CVDPX/CIIX in a Chinese pedigree, expanded the phenotype spectrum of FLNA gene variants, and provided a basis for genetic counseling and prenatal diagnosis for the pedigree.
Adult
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Female
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Humans
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Male
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Exome Sequencing
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Filamins/genetics*
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Genetic Diseases, X-Linked/genetics*
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Heart Defects, Congenital/genetics*
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Heart Valve Diseases/genetics*
;
Pedigree
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East Asian People/genetics*


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