1.Cuscutae Semen ameliorates mepanipyrim-induced visual impairment in zebrafish via the phototransduction pathway with identification of potential active constituents
Yaling YANG ; Zihan ZHAO ; Yaqian ZHENG ; Naying ZHENG ; Lian YANG ; Anfernee Kai Wing TSE ; Zhenghong ZUO ; Chengyong HE ; Jian YANG ; Lanping GUO
Science of Traditional Chinese Medicine 2025;3(4):336-346
Background: The global rise in visual impairment, driven by population aging, the increasing prevalence of lifestyle-related chronic diseases, and environmental factors, has made it a critical public health concern, highlighting the urgent need for effective preventive strategies and eye health maintenance. Cuscutae Semen (CS), a traditional Chinese herbal medicine long regarded for its vision-enhancing properties, has been widely used to support ocular health. However, its underlying molecular mechanisms and bioactive constituents remain poorly understood, limiting its modernization and broader clinical application. Objective: This study aims to investigate the restorative effects of CS on visual impairment, elucidate its underlying mechanisms, and identify potential active components. Methods: A zebrafish model of visual impairment was established using mepanipyrim to simulate retinal structural damage and visual dysfunction. The therapeutic effects of CS were systematically evaluated through behavioral analyses and histomorphological observations. To elucidate the underlying mechanisms, an integrated approach was employed, combining transcriptome sequencing (RNA-seq), reverse transcription quantitative polymerase chain reaction validation, and immunofluorescence staining to identify critical genes and pathways involved. Furthermore, macroporous resin column chromatography was employed for the fractionation and screening of potential active components. Results: CS treatment significantly alleviated mepanipyrim-induced ocular abnormalities in zebrafish, restoring approximately 82% of the observed morphological defects. Behavioral assessments revealed that CS-treated zebrafish exhibited markedly increased swimming speed and distance, indicating enhanced visual light sensitivity. Histopathological analysis demonstrated that CS effectively repaired the structure of retinal cell layers. RNA-seq revealed that CS broadly reversed mepanipyrim-induced gene expression disturbances, suggesting a restorative effect on transcriptomic homeostasis. Gene Ontology enrichment analysis identified the phototransduction pathway as a key mediator of CS’s therapeutic effects. This was further supported by reverse transcription quantitative polymerase chain reaction validation of critical genes and immunofluorescence staining, which confirmed the restored expression of Pde6a and Gnat2, key proteins involved in photic signal transmission. Active component screening indicated that high-polar constituents, including chlorogenic acid, may constitute one of the major bioactive fractions responsible for the observed therapeutic effects. Conclusion: This study provides evidence of the vision-protective effects of CS in a zebrafish model, demonstrating that its therapeutic mechanism involves modulation of the phototransduction pathway. Chlorogenic acid was identified as one of the key bioactive constituents contributing to this effect. These findings not only provide scientific validation for the traditional use of CS in ocular protection but also present promising therapeutic prospects for the prevention and treatment of visual impairment.
2.Clinical and pathological characteristics of pediatric tumors with DICER1 mutations detected by Sanger sequencing
Meng ZHANG ; Xingfeng YAO ; Nan ZHANG ; Chao JIA ; Yaqian WU ; Baofeng YANG ; Shen YANG ; Lejian HE
Chinese Journal of Pathology 2025;54(12):1288-1296
Objective:To investigate the clinicopathological and molecular genetic characteristics of pediatric tumors with DICER1 mutations.Methods:A total of 90 patients diagnosed with various types of pediatric tumors at Beijing Children′s Hospital, Capital Medical University, Beijing, China from July 2023 to September 2025 were included in this study. PCR amplification and Sanger sequencing were performed to detect the coding-region mutations of the DICER1 gene. The clinical, histopathological, and molecular genetic features of the cases with DICER1 mutation were then analyzed.Results:Among the 90 patients, 39 were male and 51 were female, with an age of onset ranging from 1 month to 17 years [median 7.13 (2.77, 10.37) years]. DICER1 mutations were detected in 37 patients (37/90, 41.1%). Among them, 9 cases harbored one mutation [6 pleuropulmonary blastomas (PPBs), 2 sex cord stromal tumors (SCSTs), and 1 cystic nephroma (CN)], 27 cases carried two mutations [10 PPBs, 3 anaplastic sarcomas of the kidney (ASKs), 3 SCSTs, 3 thyroid adenoma, 2 nodular thyroid goiters, 2 thyroid follicular lesions, 2 CN, 1 embryonal rhabdomyosarcoma, and 1 case with multiple primary tumors], and 1 case exhibited three mutations (bilateral ASKs). Despite variations in the site of origin, DICER1-mutant tumors shared several morphological features. Grossly, they presented as multilocular cystic, cystic-solid to solid masses. Microscopically, they exhibited a subepithelial layer of mesenchymal cells, with focal rhabdomyoblastic/chondroid/chondrosarcomatous differentiation, as well as cellular anaplasia. Germline testing using peripheral blood in the 31 patients with DICER1 mutation confirmed germline origin in 61.3% (19/31) of them. Parental analysis ( n=12) demonstrated genetic inheritance in 8 cases, predominantly from families with tumor history. Germline variants scattered throughout DICER1 and consisted of loss-of-function mutations (nonsense, frameshift, and splice-site). Somatic mutations showed distinct clustering in exons 24 and 25 hotspots (codons 1705, 1709, 1809, 1810 and 1813), primarily missense variants. Notably, one multiple primary tumor case harbored a somatic mosaic p.E1705K mutation. Conclusions:DICER1 mutations are frequently detected in pediatric PPB, CN, SCST, ASK, nodular thyroid goiter, thyroid adenoma, and genitourinary rhabdomyosarcoma, which often represent as the index case of DICER1 syndrome. Performing DICER1 mutation testing in these patients not only facilitates tumor diagnosis and secondary cancer surveillance, but also enables the comprehensive genetic risk assessment and management for patient′s family members.
3.Clinical and pathological characteristics of pediatric tumors with DICER1 mutations detected by Sanger sequencing
Meng ZHANG ; Xingfeng YAO ; Nan ZHANG ; Chao JIA ; Yaqian WU ; Baofeng YANG ; Shen YANG ; Lejian HE
Chinese Journal of Pathology 2025;54(12):1288-1296
Objective:To investigate the clinicopathological and molecular genetic characteristics of pediatric tumors with DICER1 mutations.Methods:A total of 90 patients diagnosed with various types of pediatric tumors at Beijing Children′s Hospital, Capital Medical University, Beijing, China from July 2023 to September 2025 were included in this study. PCR amplification and Sanger sequencing were performed to detect the coding-region mutations of the DICER1 gene. The clinical, histopathological, and molecular genetic features of the cases with DICER1 mutation were then analyzed.Results:Among the 90 patients, 39 were male and 51 were female, with an age of onset ranging from 1 month to 17 years [median 7.13 (2.77, 10.37) years]. DICER1 mutations were detected in 37 patients (37/90, 41.1%). Among them, 9 cases harbored one mutation [6 pleuropulmonary blastomas (PPBs), 2 sex cord stromal tumors (SCSTs), and 1 cystic nephroma (CN)], 27 cases carried two mutations [10 PPBs, 3 anaplastic sarcomas of the kidney (ASKs), 3 SCSTs, 3 thyroid adenoma, 2 nodular thyroid goiters, 2 thyroid follicular lesions, 2 CN, 1 embryonal rhabdomyosarcoma, and 1 case with multiple primary tumors], and 1 case exhibited three mutations (bilateral ASKs). Despite variations in the site of origin, DICER1-mutant tumors shared several morphological features. Grossly, they presented as multilocular cystic, cystic-solid to solid masses. Microscopically, they exhibited a subepithelial layer of mesenchymal cells, with focal rhabdomyoblastic/chondroid/chondrosarcomatous differentiation, as well as cellular anaplasia. Germline testing using peripheral blood in the 31 patients with DICER1 mutation confirmed germline origin in 61.3% (19/31) of them. Parental analysis ( n=12) demonstrated genetic inheritance in 8 cases, predominantly from families with tumor history. Germline variants scattered throughout DICER1 and consisted of loss-of-function mutations (nonsense, frameshift, and splice-site). Somatic mutations showed distinct clustering in exons 24 and 25 hotspots (codons 1705, 1709, 1809, 1810 and 1813), primarily missense variants. Notably, one multiple primary tumor case harbored a somatic mosaic p.E1705K mutation. Conclusions:DICER1 mutations are frequently detected in pediatric PPB, CN, SCST, ASK, nodular thyroid goiter, thyroid adenoma, and genitourinary rhabdomyosarcoma, which often represent as the index case of DICER1 syndrome. Performing DICER1 mutation testing in these patients not only facilitates tumor diagnosis and secondary cancer surveillance, but also enables the comprehensive genetic risk assessment and management for patient′s family members.
4.Survival outcome and prognostic factors of 951 cases of nasopharyngeal carcinoma treated with intensity modulated radiation therapy
Xi LUO ; Qian HE ; Yiting LI ; Ziying ZHANG ; Hui WANG ; Zheng WU ; Yaqian HAN
Chinese Journal of Radiation Oncology 2024;33(10):902-908
Objective:To analyze clinical efficacy, failure mode and prognostic factors of nasopharyngeal carcinoma (NPC) patients undergoing intensity modulated radiation therapy (IMRT).Methods:Clinical data of 951 locally advanced NPC patients who were newly-treated with IMRT in Hunan Cancer Hospital from January 2018 to January 2019 were retrospectively analyzed. The patients' general data, overall survival (OS), local recurrence-free survival (LRFS), regional recurrence-free survival (RRFS), local recurrence-free survival (LRRFS), distant metastasis-free survival (DMFS), and progression-free survival (PFS) were analyzed. Comparison among different groups was performed by one-way ANOVA. Survival rate was calculated by Kaplan-Meier method. Survival difference was compared by log-rank test. Univariate and multivariate analyses were performed by Cox regression model.Results:The median follow-up time was 62.0 months (IQR, 58.0-65.0 months). The 5-year OS, LRFS, RRFS, LRRFS, DMFS, and PFS were 85.4%, 94.0%, 97.7%, 92.6%, 85.7% and 76.9%, respectively. According to the 8th edition staging of American Joint Committee on Cancer (AJCC), there were 10 cases (1.1%) of stage I, 76 cases (8.0%) of stage II, 445 cases (46.8%) of stage III, and 420 cases (44.2%) of stage IVA, respectively. Among them, the OS rates of stage I, II, III and IVA patients were 100%, 97.2%, 88.8% and 79.2%, respectively ( P<0.001); LRRFS rates were 100%, 90.4%, 94.7% and 90.4%, respectively( P=0.104); DMFS rates were 90.0%, 95.9%, 88.0% and 81.1%, respectively ( P<0.001); PFS rates were 90.0%, 89.1%, 80.9% and 70.1% respectively ( P<0.001). There were 183 cases of treatment failure, including 52 cases (5.5%) of local failure, 19 cases (2.0%) of regional failure, 130 cases (13.7%) of distant metastasis, 16 cases of local combined with regional failure (1.7%), 16 cases (1.7%) of local failure combined with distant metastasis, 13 cases (1.4%) of regional failure combined with distant metastasis, and 9 cases (0.9%) of local regional failure combined with distant metastasis, respectively. Multivariate regression analysis suggested that EB virus DNA copy number before treatment, T stage and N stage were the independent prognostic factors affecting OS, DMFS and PFS. Conclusions:Compared with two-dimensional radiotherapy, IMRT has improved the overall therapeutic effect for NPC, especially the local control rate. Distant metastasis is still the main failure mode. Clinical staging, prognostic risk stratification and prognostic biomarkers can be combined to deliver stratified and precise treatment, which may further improve clinical efficacy and reduce treatment-related side effects.
5.Systematic review of the incidence of psychological disorders in pregnant women with gestational diabetes mellitus
Jing HE ; Hui WANG ; Wanbing HUANG ; Yaqian JIANG
Chinese Journal of Modern Nursing 2023;29(6):768-774
Objective:To systematically review the incidence and risk of psychological disorders in pregnant women with gestational diabetes mellitus (GDM) .Methods:The studies on psychological disorders in pregnant women with GDM published up to January 19, 2022 were retrieved from PubMed, Web of Science, Embase, CINAHL, Cochrane Library, APA PsyINFO, WanFang, CNKI, VIP and other databases. Two researchers independently evaluated the literature quality and extracted relevant data, and Stata 15.0 was used for Meta-analysis.Results:Finally, 48 studies were included, and the incidence rates of stress, anxiety, depression, and postpartum depression in pregnant women with GDM were 25% (95% CI: 2%-48%), 49% (95% CI: 12%-85%), 23% (95% CI: 18%-28%), and 15% (95% CI: 11%-21%). GDM was the risk factor of anxiety ( OR=1.14; 95% CI: 1.04-1.25), depression ( OR=1.63; 95% CI: 1.21-2.20), and postpartum depression ( OR=1.52; 95% CI: 1.18-1.96) during pregnancy. Conclusions:GDM will affect the mental health of pregnant women. Medical and nursing staff should screen pregnant women for early psychological disorders and provide targeted interventions to help maintain the health of mothers and babies.
6.Meta-analysis of the feasibility of sentinel lymph node biopsy in breast cancer patients with axillary lymph nodes turned to negative after neoadjuvant chemotherapy
Yaqian LIU ; Li FENG ; Feiyue GUO ; Yelin HE ; Yiran ZHAO ; Jing ZHANG
International Journal of Surgery 2023;50(2):86-93
Objective:To investigate the feasibility of sentinel lymph node biopsy in breast cancer patients with positive axillary lymph nodes turned to clinical negative after neoadjuvant chemotherapy.Methods:Full-text journal databases such as PubMed, Cochrane Library, Embase, Wanfang, VIP, and CNKI were searched to include research literature on sentinel lymph node biopsy in breast cancer patients who had axillary lymph nodes turned negative after neoadjuvant chemotherapy. The retrieval time was self-established to November 2020. Meta-analysis was performed on the literature that met the inclusion criteria. Heterogeneity among studies was analyzed by I2 test. If I2<30%, the heterogeneity among studies was considered to be small. If the value of I2 was between 30% and 70%, it was considered that there was a certain heterogeneity among the studies. If I2> 70%, it was considered that there was great heterogeneity among the studies. Small heterogeneity was analyzed by fixed effects model, otherwise, random effects model was used. Publication bias was evaluated by funnel plot and Egger′s test. Results:Finally, 14 literatures were included, including 4 Chinese literatures and 10 English literatures. The results of Meta-analysis showed that the sentinel lymph node detection rate was 90.7% and the false negative rate was 12.2%.Conclusions:In breast cancer patients with axillary lymph node turning negative, the detection rate of sentinel lymph node biopsy can meet the acceptable clinical standard for sentinel lymph node biopsy, but the false negative rate is still higher than the clinically acceptable standard. It is necessary to screen suitable patients and apply new techniques to reduce the false negative rate of sentinel lymph node biopsy.
7.Research advances in near-infrared fluorescence imaging technology for breast cancer
Yaqian LIU ; Feiyue GUO ; Yelin HE ; Jing ZHANG
International Journal of Surgery 2023;50(6):423-426
Near-infrared fluorescence imaging (NIRFI) is a new noninvasive detection and diagnosis technology, with the continuous development of NIRFI technology, now widely used in the clinic, characterized by high sensitivity, high penetration, no harmful radiation and simple equipment operation. This article describes the recent applications of NIRFI in the diagnosis and treatment of breast cancer and looks at future developments and perspectives in this field.
8.Relationship of PI3K-Akt/mTOR/AMPK signaling pathway genetic mutation with efficacy and prognosis in nasopharyngeal carcinoma.
Yanzhu CHEN ; Qian HE ; Hongzhi MA ; Lin ZHANG ; Feng LIU ; Yaqian HAN
Journal of Central South University(Medical Sciences) 2022;47(2):165-173
OBJECTIVES:
Genetic mutation is one of the important causes for tumor genesis and development, but genetic mutation in nasopharyngeal carcinoma (NPC) has rarely been reported. This study explored the role of phosphatidylinositol 3 kinase-protein kinase B (PI3K-Akt), mammalian target of rapamycin (mTOR), and adenosine 5'-monophosphate (AMP)-activated protein kinase (AMPK) signaling pathway in the efficacy and prognosis in patients with NPC.
METHODS:
A total of 31 patients with advanced NPC, who came from the Affiliated Cancer Hospital of Xiangya School of Medicine of Central South University/Hunan Provincial Cancer Hospital, were enrolled. All of the exons of 288 genes, introns of 38 genes and promoters or fusion breakpoint regions from the nasopharyngeal biopsy tissues before treatment were detected by the gene sequencing platform Illumina NextSeq CN500. The coding regions of 728 genes were carried out a high-depth sequencing of target region capture, and the 4 variant types of tumor genes (including point mutations, insertion deletions of small fragments, copy number variations, and currently known fusion genes) were detected. All of 31 patients received platinum-based induction chemotherapy combined with concurrent chemoradiotherapy and were followed up for a long time.
RESULTS:
The 3-year regional failure-free survival (RFFS) and disease-free survival (DFS) in patients with PI3K-Akt pathway mutation were significantly lower than those in unmutated patients (χ2=6.647, P<0.05). The 3-year RFFS and DFS in patients with mTOR pathway mutations were significantly lower than those in unmutated patients, and there was significant difference (χ2=5.570, P<0.05). The rate of complete response (CR) in patients with unmutated AMPK pathway was significantly higher than that in patients with mutation at 3 months after treatment (P<0.05), and the 3-year RFFS and DFS in patients with AMPK pathway mutation were significantly lower than those in unmutated patients (χ2=4.553, P<0.05). PI3K-Akt/mTOR/AMPK signaling pathway mutations and pre-treatment EB virus DNA copy numbers were independent prognostic factors for 3-year RFFS and DFS in patients with NPC (both P<0.05).
CONCLUSIONS
The NPC patients with PI3K-Akt/mTOR/AMPK signaling pathway mutation have poor prognosis, and the detection of PI3K-Akt, mTOR, AMPK driver genes and signaling pathways by next-generation sequencing is expected to provide new idea for basic research and targeted therapy of NPC.
AMP-Activated Protein Kinases/metabolism*
;
DNA Copy Number Variations
;
Humans
;
Mutation
;
Nasopharyngeal Carcinoma/genetics*
;
Nasopharyngeal Neoplasms/metabolism*
;
Phosphatidylinositol 3-Kinases/metabolism*
;
Prognosis
;
Proto-Oncogene Proteins c-akt/metabolism*
;
Signal Transduction
;
Sirolimus
;
TOR Serine-Threonine Kinases/metabolism*
9.Effection of left ventricular remodeling on systolic synchronization in patients with severe preeclampsia by full-volume imaging technology
Jianping XU ; Yaqian DU ; Xiaoyu ZHAO ; Nan XU ; Dandan WANG ; Ying′an ZHANG ; Yinfang HE
Chinese Journal of Ultrasonography 2021;30(3):207-212
Objective:To evaluate the effects of left ventricular remodeling on systolic synchronization in patients with severe preeclampsia(SPE) by full-volume imaging technology.Methods:One hundred and nine patients with SPE were randomly selected as SPE group in the First Hospital of Shanxi Medical University from December 2016 to December 2019, which were further divided into systolic synchrony(SS) group ( n=35) and systolic dyssynchrony(SD) group( n=74). And 34 healthy pregnant women during the same period were selected as normal pregnancy(NP) group. The clinical datas were collected. Parameters including left ventricular end diastolic volume(LVEDV), left ventricular end systolic volume(LVESV), left ventricular ejection fraction(LVEF), spherical index(SpI), left ventricular mass index(LVMI) and systolic dyssynchrony index(SDI) were obtained by full-volume imaging technology. The effects of left ventricular remodeling on systolic synchronization in patients with SPE were analyzed by bivariate correlation, multiple linear stepwise regression analysis and binary Logistic regression analysis, respectively. Results:①Bivariate correlation analysis showed that LVEDV, LVESV, SpI and LVMI were positively correlated with SDI( r=0.335, 0.361, 0.635, 0.680; all P<0.01). ②After adjustment for age, body mass index, systolic blood pressure, course of hypertension, antihypertensive and antispasmodic treatments, gestational diabetes mellitus, subclinical hypothyroidism, LVEF, multiple linear regression analysis showed that SpI and LVMI were independent predictors of SDI (β=0.228, 0.319; all P<0.01). ③Binary Logistic regression analysis showed that SpI and LVMI were independently correlated with left ventricular systolic dyssynchrony [ OR(95% CI)=1.288(1.039-1.598), 1.102(1.019-1.192); all P<0.05]. Conclusions:Left ventricular remodeling in patients with SPE leads to the decrease of left ventricular systolic synchronization, which can reflect subclinical myocardial dysfunction early. Full volume imaging technology can accurately evaluate left ventricular systolic synchronization in patients with SPE.
10.Efficacy of mandibular molar distalization by clear aligner treatment.
Dongxue WU ; Yunshan ZHAO ; Meng MA ; Qianqian ZHANG ; He LEI ; Yaqian WANG ; Yueshan LI ; Xi CHEN
Journal of Central South University(Medical Sciences) 2021;46(10):1114-1121
OBJECTIVES:
At present, the research on clear aligner of molar distalization mainly focuses on the upper jaw, while the research on mandibular molars is few.This study aims to evaluate the therapeutic effect of mandibular molars distalization with clear aligner via cone beam CT (CBCT) and Dolphin software.
METHODS:
Twenty cases of mandibular molars with clear aligner were included according to the inclusion and exclusion criteria. CBCT was taken before treatment (T0) and when the first molar was moved in place (T1). Dolphin software was used to measure the effectiveness of molar distalization. Three-dimensional changes in direction and the impact on the incisors and facial soft and hard tissues were evaluated.
RESULTS:
The effective rates of crown and root distalization of the second and first mandibular molars were 74%, 49%, and 71%, 47%, respectively. The second and first molars were both the distal buccal cusp with the largest distalization [(2.15 ± 0.91) mm and (1.85±1.09) mm], respectively, with significant difference between the T0 and T1 (
CONCLUSIONS
Clear aligner can effectively move mandibular molars farther, the crown is more effective than the root, and it is tilted. The second mandibular molar is more effective than the first mandibular molar in its distant displacement and three-dimensional changes. Molar distalization causes minor changes in mandibular incisors and facial soft and hard tissues.
Cephalometry
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Maxilla
;
Molar
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Orthodontic Appliances, Removable
;
Tooth Movement Techniques

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