1.Association of liver fibrosis markers and inflammation markers with the risk of gallstones in patients with metabolic dysfunction-associated fatty liver disease
Shuai ZHANG ; Shoulu JIN ; Wanqing LI ; Xijing SHI ; Hao LIANG ; Hao DONG ; Dailong LU ; Ying ZHU ; Xiaoxing XIANG ; Jun LIU
Journal of Clinical Hepatology 2026;42(3):579-585
ObjectiveTo investigate the association of liver fibrosis scores and inflammation markers with gallstones in patients with metabolic dysfunction-associated fatty liver disease (MAFLD), as well as the mediating role of liver fibrosis scores in the relationship between inflammation markers and gallstones. MethodsA total of 14 567 patients who received physical examination and were diagnosed with MAFLD in Subei People’s Hospital from January 2014 to June 2023 were enrolled in this study, and according to the results of abdominal color Doppler ultrasound, they were divided into gallstone group with 1 724 patients and non-gallstone group with 12 843 patients. Related clinical data were collected from all patients, including demographic data, medical history, family history, physical examination, Color Doppler ultrasound, and biochemical parameters. The biomarkers associated with metabolic disorders and insulin resistance included triglyceride-glucose index (TyG), TyG-body mass index (BMI) index, atherogenic index of plasma (AIP), and non-high-density lipoprotein cholesterol-to-high-density lipoprotein cholesterol ratio (NHHR); the biomarkers associated with inflammation and nutritional status included neutrophil-to-lymphocyte ratio (NLR), neutrophil percentage-to-albumin ratio (NPAR), and monocyte-to-lymphocyte ratio (MLR); the biomarkers for assessing liver fibrosis degree and liver function included albumin-bilirubin (ALBI) score, NAFLD fibrosis score (NFS), fibrosis-4 (FIB-4) index, and aspartate aminotransferase-to-platelet ratio index (APRI). The independent-samples t test was used for comparison of normally distributed continuous data between two groups, while the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups; the chi-square test was used for comparison of categorical data between two groups. Multivariate Logistic regression analysis, restricted cubic spline analysis, and mediating effect analysis were used to assess the association of liver fibrosis markers and inflammation markers with the risk of gallstones. ResultsThe prevalence rate of gallstones was 11.8% among the MAFLD patients. There were significant differences between the gallstone group and the non-gallstone group in sex, age, smoking history, diabetes, hypertension, lymphocytes, platelets, glucose, albumin, serum uric acid, alanine aminotransferase, aspartate aminotransferase, red blood cell, NLR, NPAR, MLR, NFS, FIB-4 index, and ALBI score (all P<0.05). The multivariate Logistic regression analysis showed that NLR (odds ratio [OR]=1.091, 95% confidence interval [CI]: 1.028 — 1.160, P<0.05), NPAR (OR=1.073, 95%CI: 1.042 — 1.105, P<0.05), MLR (OR=1.142, 95%CI: 1.057 — 1.232, P<0.05), NFS (OR=1.239, 95%CI: 1.190 — 1.291, P<0.05), and FIB-4 index (OR=1.326, 95%CI: 1.241 — 1.417, P<0.05) were influencing factors for the prevalence rate of gallstones. The restricted cubic spline analysis showed a significant non-linear association between NFS/FIB-4 index and the risk of gallstone (non-linear P<0.05). The mediating effect analysis further showed that the association of NLR, MLR, and NPAR with gallstones was partially mediated by NFS or FIB-4 index, with a mediating effect accounting for 36.79%、28.09%、29.67% and 18.31%、17.70、11.57%, respectively. ConclusionNFS and FIB-4 index have a non-linear association with the prevalence rate of gallstones in MAFLD patients, and they also mediate the association of NLR, NPAR, and MLR with the risk of gallstone.
2.Association between photoreceptor gene mutation-caused diseases and myopia
Yunqing LIANG ; Jiali LI ; Shanshan LIU ; Xiaohe LU
International Eye Science 2026;26(3):452-457
Myopia has become a significant eye health problem, which is thought to result from the complex interactions of genetic and environmental factors. This review focuses on two types of hereditary retinal diseases caused by mutations in photoreceptor genes, including rod-cone cell dystrophy(retinitis pigmentosa)and cone dysfunction syndromes(achromatopsia, blue cone monochromatism and Bornholm eye disease). It systematically explores the intrinsic connection between these diseases and the myopia phenotype, and elaborates on the core mechanisms by which pathogenic genes such as RPGR and OPN1LW/OPN1MW, which cause defects in ciliary structure and protein transport and interfere with the visual signal pathway, jointly induce choroidal thinning and scleral remodeling, ultimately driving the elongation of axial length and the occurrence of myopia. By tracing the association of photoreceptor gene mutations with myopia, this article provides a new perspective for in-depth understanding of the genetic mechanism of myopia and is of great significance for the development of early risk warning and targeted intervention strategies.
3.Exploring Mechanism of Anti-atherosclerosis Effect of Huangqi Chifengtang Based on AMPK/PPARα Signaling Pathway and NLRP3 Inflammasome
Yuqin LIANG ; Jie LIU ; Chi ZHANG ; Pingping CHEN ; Fang LU ; Shumin LIU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(1):131-139
ObjectiveTo explore the improving effect of Huangqi Chifengtang(HCT) on atherosclerosis(AS), and elucidate its mechanism in relation to adenosine monophosphate-activated protein kinase(AMPK)/peroxisome proliferator-activated receptor α(PPARα) signaling pathway and nucleotide-binding oligomerization domain(NOD)-like receptor thermal protein domain associated protein 3(NLRP3) inflammasome. MethodsEight C57BL/6J mice were set as the normal group, and 32 ApoE-/- mice were randomly divided into the model group, the positive drug group(atorvastatin, 5 mg·kg-1·d-1), HCT low- and high-dose groups(1.95, 3.90 g·kg-1·d-1). ApoE-/- mice were fed with high-fat and high-cholesterol feed to establish an AS mouse model. After modeling, they were orally administered corresponding dose of drugs for 28 days, while the normal and model groups received an equal volume of physiological saline via oral gavage. Hematoxylin-eosin(HE) staining was used to observe the pathological status of the aorta and liver in mice, Biochemical testing and enzyme-linked immunosorbent assay(ELISA) were used to detect the levels of total cholesterol(TC), triglycerides(TG), low-density lipoprotein cholesterol(LDL-C), alanine aminotransferase(ALT), aspartate aminotransferase(AST), C-reactive protein(CRP), interleukin(IL)-1β, IL-18 in the serum, as well as superoxide dismutase(SOD), malondialdehyde(MDA), and reduced glutathione(GSH) in the liver. Real-time fluorescence quantitative polymerase chain reaction(Real-time PCR) was used to measure the mRNA expression levels of NLRP3, apoptosis-associated speck-like protein(ASC), cysteinyl aspartate specific proteinase-1(Caspase-1), Toll-like receptor 4(TLR4) in the aorta, and fatty acid synthase(FAS), stearoyl-CoA desaturase 1(SCD1), PPARα, and carnitine palmitoyltransferase 1A(CPT1A) in the liver. Immunohistochemistry was used to determine the protein expressions of NLRP3, Caspase-1, and ASC in the aorta, and Western blot was used to measure the protein expressions of AMPK, p-AMPK, sterol regulatory element binding protein-1c(SREBP-1c), CPT1A, and FAS in the liver. ResultsCompared with the normal group, the model group showed a significant increase in lipid plaque deposition in the aorta and lipid accumulation in the liver, the levels of TC, TG, LDL-C, AST, ALT, IL-1β, IL-18 and CRP in the serum were significantly increased(P<0.01), and the mRNA and protein expressions of aortic TLR4, NLRP3, Caspase-1 and ASC were significantly upregulated(P<0.01). The levels of SOD and GSH in the liver were significantly reduced, while the level of MDA was significantly increased(P<0.01). The mRNA expressions of FAS and SCD1 in the liver were significantly downregulated, while the mRNA expressions of PPARα and CPT1A were significantly upregulated. The protein expressions of p-AMPK/AMPK and CPT1A in the liver were significantly reduced, while the expressions of SREBP-1c and FAS proteins were significantly increased(P<0.01). Compared with the model group, the low- and high-dose HCT groups showed significant improvements in aortic plaques and hepatic lipid deposition. The levels of TC, LDL-C, AST, IL-1β and IL-18 in the serum of the low-dose HCT group, as well as TC, TG, LDL-C, AST, ALT, IL-1β, IL-18 and CRP in the serum of the high-dose HCT group, were significantly reduced(P<0.01). The mRNA expressions of TLR4, NLRP3 and Caspase-1 in the aorta of the low-dose HCT group, as well as TLR4, NLRP3, Caspase-1 and ASC in the aorta of the high-dose HCT group, were significantly downregulated(P<0.01). The protein expressions of Caspase-1 and ASC in the aorta of the low-dose HCT group, as well as NLRP3, Caspase-1 and ASC in the high-dose HCT group, were significantly downregulated(P<0.01). The levels of SOD and GSH in the liver of the low- and high-dose HCT groups were significantly increased, while the level of MDA in the high-dose HCT group was significantly decreased(P<0.05, P<0.01). In the HCT-treated group, the mRNA expressions of FAS and SCD1 in the liver were significantly upregulated, while the mRNA expressions of PPARα and CPT1A were significantly downregulated, the protein expressions of p-AMPK/AMPK and CPT1A in the liver were significantly increased, while the protein expressions of SREBP-1c and FAS were significantly decreased(P<0.05, P<0.01). ConclusionHCT can improve lipid metabolism by activating the AMPK/PPARα pathway and inhibit NLRP3 inflammasome-mediated inflammatory responses, thereby reducing hepatic lipid deposition and AS plaque formation.
4.Effect of Modified Duhuo Jisheng Mixture Regulating PI3K/Akt/mTOR Signaling Pathway on Synoviocyte Pyroptosis in Rabbit Models of Knee Osteoarthritis
Zifeng YE ; Yiwei YUAN ; Liguo QIU ; Xuyi TAN ; Liang OU ; Gaoyan KUANG ; Min LU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(1):170-179
ObjectiveTo explore the potential mechanisms of action of the modified Duhuo Jisheng Mixture (JDJM) in treating synovial lesions in knee osteoarthritis (KOA). MethodsA total of 43 male New Zealand white rabbits were randomly allocated into a blank group (n=8) and a model group (n=35). The KOA model was induced by immobilizing the right hind limb with a high-molecular resin plaster bandage, with a modeling period of 6 weeks, resulting in successful modeling in 32 rabbits. These rabbits were then randomly allocated to the model group, celecoxib group, JDJM group and JDJM+740Y-P group, each consisting of 8 rabbits. The celecoxib group received celecoxib via gavage at a single dose of 0.009 3 g·kg-1, while the JDJM was administered a single dose of 6.8 mL·kg-1 (4.515 2 g·kg-1) of the herbal preparation via gavage. The phosphatidylinositol 3-kinase/protein kinase B/mammalian target of rapamycin (PI3K/Akt/mTOR) pathway activator + JDJM group received 4.515 2 g·kg-1 of the herbal preparation via gavage along with an auricular vein injection of 0.15 μmol·kg-1 740Y-P. For a period of 6 weeks, the remaining groups received an equal volume of physiological saline via gavage daily. After the medication period, the knee joint pain threshold and circumference were measured, and hematoxylin-eosin (HE) staining was performed to assess the pathological changes in the synovial tissues. Enzyme-linked immunosorbent assay (ELISA) measured the levels of interleukin-1β (IL-1β), interleukin-6 (IL-18) and tumor necrosis factor-α (TNF-α) in the joint fluid. Real-time fluorescence quantitative polymerase chain reaction (Real-time PCR) was used to assess the mRNA expression of PI3K, Akt, mTOR, NOD-like receptor protein 3 (NLRP3), cysteine-requiring aspartate protease-1 (Caspase-1) and gasdermin D (GSDMD) in the synovial tissues. Immunohistochemical (IHC) assay was performed to assess the protein expression of NLRP3, Caspase-1 and GSDMD. Western blot was carried out to analyze the protein expression of p-PI3K/PI3K, p-Akt/Akt, p-mTOR/mTOR, NLRP3, Caspase-1 and GSDMD. ResultsCompared to the blank group, the model group showed a significant increase in knee joint circumference and decrease in pain threshold, the synovial tissue pathology score was higher (P<0.05), and the levels of IL-1β, IL-18, and TNF-α in the joint fluid significantly increased (P<0.01). PI3K, Akt, mTOR phosphorylation as well as mRNA and protein expression increased (P<0.01), while the mRNA and protein expression levels of NLRP3, Caspase-1 and GSDMD also significantly increased (P<0.01). Compared to the model group, the celecoxib and JDJM groups exhibited a significant reduction in knee joint circumference and increase in pain threshold, the synovial tissue pathology score was lower (P<0.05), and the levels of IL-1β, IL-18, and TNF-α in the joint fluid decreased (P<0.01). The mRNA and protein expression of p-PI3K, p-Akt, p-mTOR, NLRP3, Caspase-1 and GSDMD were reduced (P<0.01). Compared to the JDJM group, the JDJM+740Y-P group showed a decrease in the improvement of synovial lesions, an increase in knee joint circumference, and a decrease in pain threshold. The synovial tissue pathology score was lower (P<0.05), and the levels of IL-1β, IL-18, and TNF-α in the joint fluid were higher (P<0.01). The mRNA and protein expression of p-PI3K/PI3K, p-Akt/Akt, p-mTOR/mTOR, NLRP3, Caspase-1 and GSDMD increased (P<0.01). ConclusionJDJM is effective in treating KOA. Its mechanism may involve modulating the PI3K/Akt/mTOR pathway in synovial tissues, inhibiting pyroptosis, reducing inflammatory factor release, and protecting bony structures.
5.Advances in the JAK2/STAT3 signaling pathway and its inhibitors in diffuse large B cell lymphoma
Chuanyang LU ; Qiuni CHEN ; Yuye SHI ; Yuan DENG ; Tingting JI ; Zhengyuan LIU ; Chunling WANG ; Liang YU
China Pharmacy 2026;37(5):682-688
Abnormal activation of the Janus kinase/signal transducer and activator of transcription (JAK/STAT) signaling pathway is involved in the pathogenesis of diffuse large B-cell lymphoma (DLBCL). In recent years, inhibitors targeting JAK2 and STAT3 have emerged as promising therapeutic candidates in DLBCL. This review summarizes the efficacy and safety profiles of JAK2 inhibitors (e.g., ruxolitinib) and STAT3 inhibitors (direct small-molecule inhibitors, the antisense oligonucleotide, and proteolysis targeting chimeras, etc.) in preclinical models and clinical trials. Accumulating evidence indicates that JAK2 and STAT3 inhibitors exhibit antitumor activity and are generally well tolerated in a subset of DLBCL patients. Meanwhile, the development of novel drug delivery systems has significantly enhanced the stability, bioavailability, and targeting ability of the compounds. Furthermore, JAK2 and STAT3 inhibitors may exhibit synergistic effects when combined with other therapy strategies (such as combinations with B-cell receptor signaling pathway inhibitors, immunomodulators, or other targeted drugs). However, current clinical applications are still in their early stages. Future research should concentrate on precision treatment strategies based on the genetic subtyping of DLBCL, and further refine the delivery systems for inhibitors as well as combination drug regimens to improve clinical outcomes.
6.Relationship between non-suicidal self-injury behaviors, impulsivity, and emotional regulation in adolescents with depressive disorder
Mingfei ZHANG ; Xinyu CHEN ; Fang LIANG ; Zhe CHEN ; Lu QIAN ; Zhijia LI
Sichuan Mental Health 2026;39(1):21-26
BackgroundAdolescents with depressive disorder often engage in non-suicidal self-injury (NSSI) behaviors, which severely impacts their physical and mental health. Impulsivity and emotional regulation are key factors influencing NSSI behaviors. However, research on the mechanisms through which impulsivity and emotional regulation affect NSSI behaviors in adolescent depressive disorder patients with NSSI remains insufficient, limiting the development of effective intervention strategies. ObjectiveTo explore the differences in impulsivity and emotion regulation abilities between adolescent patients with depressive disorder accompanied by and without NSSI behaviors, and to analyze the association between NSSI behaviors and impulsivity and emotion regulation abilities in adolescent patients with depressive disorder accompanied by NSSI behaviors. MethodsA total of 184 adolescents hospitalized in the child and adolescent psychiatry department of Wuxi Mental Health Center from October 2023 to August 2024, who met the diagnostic criteria for depressive disorder according to the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5), were consecutively enrolled as study subjects. Based on the diagnostic criteria for NSSI in DSM-5, patients were divided into NSSI group (n=108) and non-NSSI group (n=76). The Barratt Impulsiveness Scale-11 (BIS-11), the Emotion Regulation Questionnaire (ERQ), the Adolescent Self-Harm Questionnaire, and the Positive and Negative Suicide Ideation (PANSI) were used for assessment. Spearman correlation analysis was employed to explore the correlation between the scores of the Adolescent Self-Harm Questionnaire and the scores of BIS-11 and ERQ in the NSSI group. Multiple regression analysis was conducted to examine the effects of impulsivity and emotion regulation on NSSI behaviors in the NSSI group. ResultsCompared to the non-NSSI group, the NSSI group showed significantly higher scores in BIS-11 non-planned impulsivity (Z=-4.181, P<0.05), action impulsivity (t=4.944, P<0.05), cognitive impulsivity (Z=-3.392, P<0.05), and total score (t=4.763, P<0.05), and lower scores in the cognitive reappraisal of ERQ (t=-4.094, P<0.05) and total score (Z=-2.299, P<0.05), and higher scores in the expression inhibition of ERQ (Z=-3.019, P<0.05). The correlation analysis results showed that the score of the adolescent self-harm questionnaire in the NSSI group was positively correlated with the behavioral impulsivity factor score in the BIS-11 (r=0.434, P<0.05). Multiple regression analysis indicated that action impulsivity factor was a significant correlate of self-injury behaviors in the NSSI group (B=0.855, P<0.05), explaining 22.30% of the total variance. ConclusionAdolescent patients with depressive disorder accompanied by NSSI behaviors exhibit higher levels of impulsivity and poorer emotional regulation abilities. Action impulsivity may play a significant role in the mechanism of NSSI behaviors. [Funded by Wuxi Municipal Health Commission Research Project (number, Q202320)]
7.Relationship of non-suicidal self-injury behavior with serum lipid levels and thyroid function among college students with depression
CHEN Lu, YANG Zhiqiang, CAO Xiaoping, ZHAO Yanxia, LIANG Shaoying, LUO Yi, LI Hongyu
Chinese Journal of School Health 2026;47(3):394-397
Objective:
To explore the relationship between non suicidal self injury (NSSI) behavior and serum lipid levels as well as thyroid function among college students with depression.
Methods:
A total of 169 college students with depression in the psychiatry departments of tertiary hospitals (grade 3A and 3B) in Ningbo from December 2023 to April 2025 were selected. The Adolescent Self injury Scale (ASIS) was used to assess the presence of NSSI, and participants were accordingly divided into a NSSI group ( n =51) and a non NSSI group ( n =118). General demographic data (including gender, age, and family situation) were collected from both groups. Blood tests were performed to measure lipid profiles [triglyceride (TG), total cholesterol (TC), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C)] and thyroid hormones [triiodothyronine (T3), thyroxine (T4), free triiodothyronine (FT3), free thyroxine (FT4), thyroid stimulating hormone (TSH)]. Multivariate Logistic regression was employed to analyze risk factors for NSSI, and receiver operating characteristic (ROC) curve analysis was used to evaluate the predictive value of serum lipid and thyroid hormone levels for NSSI occurrence in college students with depression.
Results:
The levels of TC, LDL-C, and TSH in the NSSI group were (4.02±0.73) mmol/L, (2.32±0.36) mmol/L, and (6.57±1.95) mU/L , which were significantly higher than those in the non NSSI group [(3.41±0.56) mmol/L, (2.00±0.27) mmol/L, and ( 4.48± 1.09) mU/L, respectively] ( t =5.32, 5.60, 7.20, all P <0.05). Logistic regression analysis revealed that college students from single parent/reconstituted families, those who had experienced school bullying, and those with higher levels of TC, LDL-C, and TSH had a significantly increased risk of engaging in NSSI ( OR =5.22, 6.12, 5.90, 83.64, 3.64, all P <0.05). ROC curve analysis demonstrated that the combined detection of TC, LDL-C, and TSH had high diagnostic efficacy for predicting NSSI in college students with depression, with a sensitivity of 86.3% and a specificity of 94.9%.
Conclusions
NSSI behavior in college students with depression is associated with serum lipid levels and thyroid function. These biomarkers may serve as useful reference indicators for assessing the conditions of these patients.
8.Correlation between liver fibrosis degree and carotid plaque in patients with lean metabolic dysfunction-associated fatty liver disease
Shuai ZHANG ; Shoulu JIN ; Wanqing LI ; Xijing SHI ; Hao LIANG ; Hao DONG ; Dailong LU ; Ying ZHU ; Xiaoxing XIANG ; Jun LIU
Journal of Clinical Hepatology 2026;42(2):319-325
ObjectiveTo investigate the association between noninvasive liver fibrosis markers and carotid plaque (CP) in patients with lean metabolic dysfunction-associated fatty liver disease (MAFLD), and to provide a basis for screening high-risk populations. MethodsA total of 957 patients with lean MAFLD who underwent physical examination in Subei People’s Hospital from January 2021 to June 2023 was enrolled as the observation cohort, with the presence or absence of CP as the outcome, and fibrosis-4 (FIB-4) index and nonalcoholic fatty liver disease fibrosis score (NFS) were used to assess liver fibrosis degree. The independent-samples t test was used for comparison of normally distributed continuous data between two groups, and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups; the chi-square test was used for comparison of categorical data between two groups. The multivariate logistic regression analysis, the restricted cubic spline analysis, the receiver operating characteristic curve, and the mediation effect analysis were used to investigate the association between liver fibrosis degree and CP. ResultsThe prevalence rate of CP was 36.6% in the lean MAFLD population. Compared with the non-CP group(n=607), the CP group (n=350) had a significantly higher proportion of male patients, a significantly higher proportion of patients with smoking/diabetes/hypertension, and significantly higher levels of age, creatinine, blood urea nitrogen, triglycerides, fasting blood glucose, aspartate aminotransferase, aspartate aminotransferase/alanine aminotransferase ratio, NFS, and FIB-4 index, as well as significantly lower levels of platelet count and albumin (all P<0.05). The multivariate logistic regression analysis showed that after adjustment for confounding factors, FIB-4 index (odds ratio[OR]=2.979, 95% confidence interval[CI]:2.141 — 4.219, P<0.001) and NFS (OR=1.747, 95%CI: 1.499 — 2.046, P<0.001) were positively correlated with CP. Both FIB-4 index and NFS had a good value in predicting CP. Hypertension had a significant indirect effect on the prevalence rate of CP through its impact on liver fibrosis markers, and its mediating effect accounted for 39.5% — 40.8% of the total effect (P<0.001). ConclusionIn patients with lean MAFLD, NFS and FIB-4 index are significantly positively correlated with the prevalence rate of CP, and they can be used as potential epidemiological predictive indicators. Liver fibrosis markers may play a mediating role in the association between hypertension and CP. Interventions targeting hypertension and liver fibrosis markers may help to prevent and delay the progression of CP.
9.Genetic analysis and reproductive intervention for 46 Chinese pedigrees affected with Hereditary multiple exostoses.
Lilan SU ; Xiao HU ; Jing DAI ; Zhengxing WAN ; Duo YI ; Shuangfei LI ; Liang HU ; Yueqiu TAN ; Fei GONG ; Ge LIN ; Guangxiu LU ; Qianjun ZHANG ; Juan DU ; Wenbin HE
Chinese Journal of Medical Genetics 2026;43(4):253-258
OBJECTIVE:
To explore the genetic etiology of 46 Chinese pedigrees affected with Hereditary multiple exostoses (HME) and provide genetic counseling and reproductive intervention.
METHODS:
Whole-exome sequencing and Sanger sequencing were carried out on 87 patients from the 46 pedigrees to analyze the variants of EXT1 and EXT2 genes. Pathogenicity of the variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics and Association for Molecular Pathology (ACMG/AMP). Prenatal diagnosis and preimplantation genetic testing (PGT) were provided for couples with identified pathogenic mutations. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: LL-SC-SG-2014-010).
RESULTS:
In total 17 and 22 pathogenic variants were respectively identified in the EXT1 and EXT2 genes, among which 5 EXT1 and 12 EXT2 variants were unreported previously. Three patients with no family history were found to harbor de novo variants of the EXT1 gene. Twenty nine couples had opted for PGT or underwent prenatal diagnosis following natural conception, and 17 healthy babies were born.
CONCLUSION
This study has clarified the genetic etiology of 45 HME pedigrees and identified 17 novel variants, which has enriched the mutational spectrum of the EXT1 and EXT2 genes. Reproductive intervention through PGT and prenatal diagnosis have prevented the recurrence of HME in these families.
Humans
;
Female
;
Male
;
Pedigree
;
Exostoses, Multiple Hereditary/diagnosis*
;
N-Acetylglucosaminyltransferases/genetics*
;
Adult
;
Exostosin 1
;
Asian People/genetics*
;
Genetic Testing
;
Exostosin 2
;
Mutation
;
China
;
Prenatal Diagnosis
;
Pregnancy
;
Genetic Counseling
;
Preimplantation Diagnosis
;
Exome Sequencing
;
East Asian People
10.Surveillance of schistosomiasis in Jiangsu Province from 2012 to 2024
Wei LI ; Jianfeng ZHANG ; Liang SHI ; Tao WANG ; Yun FENG ; Lu LIU ; Kun YANG
Chinese Journal of Schistosomiasis Control 2026;38(1):8-13
Objective To evaluate the effectiveness of schistosomiasis surveillance in Jiangsu Province during the stage moving from transmission control to transmission interruption, and to analyze the current risk and challenges, so as to provide the evidence for achieving the target of schistosomiasis elimination. Methods Schistosomiasis surveillance data were collected from Jiangsu Province from 2012 to 2024, and the endemic areas, Schistosoma japonicum infections in humans and livestock, Oncomelania hupensis snail distribution and implementation of integrated interventions were descriptively analyzed. In addition, the trends in areas with snails, seroprevalence of human S. japonicum infections and numbers of advanced schistosomiasis cases were assessed using a Joinpoint regression model. Results The endemic areas of schistosomiasis continued to shrink in Jiangsu Province from 2012 to 2024, with the number of schistosomiasis-eliminated counties (cities, districts) increasing from 53 (75.71%) to 63 (96.92%), and interruption of schistosomiasis transmission was achieved across the province. A total of 4 600 300 person-times were tested for serum antibodies against S. japonicum, with 28 719 person-times positive detected; and 616 500 person-times were tested S. japonicum infections among local residents in Jiangsu Province from 2012 to 2024, with only 3 egg-positives detected, and no egg-positives found since 2017. A total of 187 600 herd-times were tested for schistosomiasis in livestock, and no S. japonicum infections were found. O. hupensis snail survey was performed covering 1 018 408.97 hm2, and a total of 35 556.35 hm2 was found with snail-infested habitats, including 174.40 hm2 of emerging snail-infested habitats. A total of 1 102 800 O. hupensis snails were identified for S. japonicum infections, and no infections were found. The areas of snail-infested habitats appeared a tendency towards a rise in Jiangsu Province from 2019 to 2023 (APC = 23.67%, P < 0.05), and the actual areas of snail-infested habitats appeared a tendency towards a decline from 2012 to 2015 (APC = −22.77%, P < 0.05), and towards a rise from 2015 to 2023 (APC = 9.76%, P < 0.01). The seroprevalence of anti-S. japonicum antibodies appeared a tendency towards a decline among residents in Jiangsu Province from 2017 to 2023 (APC = −14.92%, P < 0.01). In addition, the number of newly diagnosed advanced schistosomiasis cases appeared a tendency towards a decline from 2012 to 2024 (APC = −12.02%, P < 0.01), and the numbers of advanced schistosomiasis patients requiring treatment showed a tendency towards a decline from 2012 to 2021 (APC = −10.56%, P < 0.01) and from 2021 to 2023 (APC = −20.06%, P < 0.01). Conclusions Great progresses had been achieved in schistosomiasis control in Jiangsu Province following transmission control, and transmission interruption had been achieved; however, there are still snail-infested habitats. High-intensity surveillance and integrated control are required to be maintained to advance the achievement of the target of schistosomiasis elimination in Jiangsu Province.


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