1.Research Progress on Short Stature Accompanied by Disorders of Sex Development
Xinran GONG ; Huifang PENG ; Jiali CHEN ; Hongwei JIANG
Medical Journal of Peking Union Medical College Hospital 2026;17(2):476-483
Short stature(SS) and disorder of sex development(DSD) are two types of conditions characterized by high clinical heterogeneity and complex etiology. There is interplay and mutual influence between the pathways regulated by growth hormone and sex hormones in skeletal and gonadal development. Causing co-occurrence of SS and DSD, as seen in conditions such as Turner syndrome, mixed gonadal dysgenesis, Noonan syndrome, and Prader-Willi syndrome. Patients with these disorders are often accompanied by distinctive facial features, endocrine and metabolic disturbances, cardiovascular disease, and other systemic complications. Genetic factors involved include chromosomal numerical and structural abnormalities; mutations in genes such as SHOX, CHD7, SOX8, and PTPN11, dysregulation of the RAS/mitogen activated protein kinase signaling pathway, and defects in imprinted genes. This article aims to systematically review the relevant research progress, in order to provide a reference for the clinical diagnosis and treatment strategies of patients with coexisting SS and DSD.
2.Disease Burden and Associated Risk Factors for Early-Onset Colorectal Cancer in the World, China and the United States
Yuqing CHEN ; Yueyang ZHOU ; Xinran CHENG ; Bin LU ; Min DAI ; Hongda CHEN
Medical Journal of Peking Union Medical College Hospital 2026;17(4):1164-1173
To evaluate and project the disease burden of early-onset colorectal cancer (EOCRC), and to identify its major risk factors. Data from the Global Burden of Disease Study 2021 were used. EOCRC was defined as colorectal cancer diagnosed at ages 15-49 years. We extracted the absolute numbers and crude rates of incidence, mortality, and disability-adjusted life years (DALYs) of EOCRC in the world, China, and the United States from 1990 to 2021. Age-standardized rates were then calculated accordingly, and the associated risk factors were summarized. Joinpoint regression was applied to assess temporal trends in global EOCRC age-standardized incidence rate (ASIR), mortality rate (ASMR), and DALY rate. The Bayesian age-period-cohort (BAPC) model was used to project the EOCRC burden from 2022 to 2040. In 2021, an estimated 211 900 new EOCRC cases were reported globally, corresponding to an ASIR of 5.37 per 100 000, along with 79 500 deaths and a total of 4.00 million DALYs lost. China experienced a substantially higher burden than the global average, with an ASIR of 10.02 per 100 000, an ASMR of 3.11 per 100 000, and an age-standardized DALYs rate(ASDR) of 160.93 per 100 000, disproportionately affecting males. The United States had a higher ASIR(10.73 per 100 000) than China, but exhibited lower ASMR(2.53 per 100 000) and ASDR(127.81 per 100 000). From 1990 to 2021, ASIRs increased globally (AAPC=0.374) and more markedly in China (AAPC=1.423), whereas ASMR (AAPC=-0.855) and DALY rates (AAPC=-0.834) declined. In China, ASMR and DALY rates declined overall but rebounded in recent years, whereas in the United States, ASIR began to decrease after 2017, while ASMR and DALY rates remained relatively stable. By sex, China's male ASIR increased by 89.7% between 1990 and 2021, with rises also observed in ASMR and DALY rates in recent years. Regarding risk factors, insufficient whole-grain intake and excessive red meat consumption emerged as the leading modifiable contributors to EOCRC mortality and DALYs both globally and in the two countries, jointly accounting for 31.20% and 30.82% of the global burden, respectively. Heavy alcohol consumption and tobacco use were particularly significant contributors among Chinese men. Projections indicated that by 2040, China's ASIR is projected to rise to 17.04 per 100 000, indicating a continued increase in disease burden, whereas the United States is expected to maintain a downward trend. Although China's EOCRC mortality and DALY burden have declined over the past three decades, the incidence remains markedly higher and is rising more rapidly compared with the global level and the U.S. More effective public health strategies are urgently needed, including promoting earlier and wider implementation of colorectal cancer screening, strengthening follow-up and referral systems, improving dietary structure, and intensifying tobacco and alcohol control, to mitigate the growing burden of EOCRC.
3.Prediction of Mismatch Repair Deficiency Status in Endometrial Cancer Using Multiparametric MRI Radiomics and Deep Learning: A Multimodal Model with Preliminary Validation
Liru WANG ; Shangying YANG ; Boyu CHEN ; Fuze CONG ; Xinran LI ; Xinyu LIU ; Huadan XUE ; Zhengyu JIN ; Yang XIANG ; Yonglan HE ; Yuan LI
Medical Journal of Peking Union Medical College Hospital 2026;17(4):976-984
To explore the clinical value of a multimodal predictive model based on multiparametric magnetic resonance imaging(MRI) radiomics combined with deep learning(DL) features for the preoperative noninvasive assessment of mismatch repair-deficient(MMRd) status in endometrial cancer(EC). Patients diagnosed with EC at Peking Union Medical College Hospital from January 2015 to December 2021 were retrospectively enrolled and randomly divided into a training set and a validation set at a ratio of 8∶2. Relevant clinical data were collected, and radiomics features and DL features were extracted from preoperative contrast-enhanced T1-weighted imaging(CE-T1WI), fat-suppressed T2-weighted imaging(fs-T2WI), and diffusion-weighted imaging(DWI) sequences. High-dimensional feature selection and dimensionality reduction were performed sequentially using the recursive feature elimination(RFE) algorithm to generate a radiomics score(Rad-score) and a deep learning score(DL-score), respectively. Multivariate logistic regression was utilized to construct a clinical model, a pure radiomics model, a clinical-radiomics model, and an integrated multimodal model incorporating clinical indicators, Rad-score, and DL-score. Model performance was assessed and compared using area under receiver operating characteristic curve(AUC) and DeLong test. A total of 509 patients were enrolled in this study, comprising 413 in the training cohort and 96 in the validation cohort. Independent predictors: Multivariate analysis indicated that preoperative fasting blood glucose level, histological grade, lymph node metastasis status, Rad-score, and DL-score were all independent significant predictors of MMRd status in EC patients. The integrated multimodal model demonstrated optimal predictive performance with an AUC of 0.699(95% CI: 0.635-0.763) in the training set, which was superior to the clinical model(AUC=0.629, 95% CI: 0.561-0.697) and the pure radiomics model(AUC=0.641, 95% CI: 0.575-0.706). In the validation set, the integrated model maintained good generalizability, achieving an AUC of 0.655(95% CI: 0.535-0.775), and its diagnostic efficacy was higher than that of the clinical model(AUC=0.578, 95% CI: 0.450-0.705) and the pure radiomics model(AUC=0.611, 95% CI: 0.488-0.734). According to the DeLong test, the incorporation of DL features resulted in the clinicalradiomicsdeep learning model performing better than both the clinicalonly model( The initially developed clinical-radiomics-deep learning model exhibits a certain predictive potential for the MMRd status in patients with EC. The inclusion of DL features may help complement the limitations of traditional evaluations, offering a preliminary radiological reference for preoperative non-invasive screening. However, given the current diagnostic performance, its overall accuracy and clinical generalizability warrant further validation in multi-center, large-sample external cohort studies.
4.Research progress of novel intraocular lens in the treatment of posterior cataract
Xinran ZHAI ; Zhimin CHEN ; Yanhui XU ; Yue ZHANG
International Eye Science 2025;25(10):1611-1616
Posterior capsule opacification(PCO)is a common postoperative complication of cataract surgery, primarily caused by the proliferation and migration of residual lens epithelial cells(LECs). Although neodymium-doped yttrium aluminum garnet(Nd:YAG)laser posterior capsulotomy effectively treats PCO, it carries risks of complications such as cystoid macular edema(CME). Thus, preventing PCO formation is of critical clinical importance. Despite advancements in intraocular lens(IOL)materials and designs, achieving complete PCO eradication remains challenging. This review systematically examines recent advancements in surface-modified IOLs, including anti-biofouling IOL(reducing LECs adhesion), capsular adhesion-enhanced IOL(promoting capsular bag integration), micro-patterned IOL(physically inhibiting migration), photothermal/photodynamic IOL(inducing light-activated LECs apoptosis), and drug-eluting IOL(sustained drug release). These surface modification strategies demonstrate synergistic effects through complementary mechanisms(including physical barrier formation, chemical intervention, and bioactive regulation), effectively suppressing LECs proliferation while significantly reducing PCO incidence. Importantly, these approaches eliminate the risks associated with conventional Nd:YAG laser treatment, offering substantial advantages. By providing a comprehensive evaluation of these cutting-edge technologies, this review serves as a valuable reference for IOL design optimization. It represents a paradigm shift in cataract management strategies, transitioning from reactive therapeutic interventions to proactive preventive measures, and ultimately leads to improving long-term visual outcomes for patients.
5.Effect of electroacupuncture on learning and memory abilities in vascular dementia rats via the NCOA4/FTH1 signaling pathway-mediated ferritinophagy.
Wei SUN ; Yinghua CHEN ; Tong WU ; Hongxu ZHAO ; Haoyu WANG ; Ruiqi QIN ; Xiaoqing SU ; Junfeng LI ; Yuanyu SONG ; Yue MIAO ; Xinran LI ; Yusheng HAN
Chinese Acupuncture & Moxibustion 2025;45(9):1271-1280
OBJECTIVE:
To observe the effect of electroacupuncture at "Sishencong" (EX-HN1) and "Fengchi" (GB20) on hippocampal neuronal ferritinophagy mediated by the nuclear receptor coactivator 4 (NCOA4)/ferritin heavy chain 1 (FTH1) signaling pathway in vascular dementia (VD) rats, and to explore the potential mechanisms of electroacupuncture for VD.
METHODS:
A total of 60 male rats of SPF grade were randomly divided into a blank group (12 rats), a sham surgery group (12 rats) and a modeling group (36 rats). In the modeling group, the modified 4-vessel occlusion method was used to establish the VD model. The 24 successfully modeled rats were randomly divided into a model group and an electroacupuncture group, with 12 rats in each group. In the electroacupuncture group, electroacupuncture was applied at left and right "Sishencong" (EX-HN1), and bilateral "Fengchi" (GB20), with continuous wave, in frequency of 2 Hz and current intensity of 1 mA, 30 min a time, once daily for 21 consecutive days. The learning and memory abilities were assessed using the Morris water maze test before modeling, after modeling and after intervention, as well as the novel object recognition test after intervention. After intervention, the neuronal morphology in the hippocampus was observed by Nissl staining; the iron deposition was observed by Prussian blue staining; the reactive oxygen species (ROS) level was detected by dihydroethidium (DHE) fluorescence staining; the levels of iron, malondialdehyde (MDA) and superoxide dismutase (SOD) in the hippocampal tissue were measured by the colorimetric assay, TBA method, and WST-1 method, respectively; the positive expression of NCOA4, FTH1 and glutathione peroxidase 4 (GPX4) was detected by immunohistochemistry; the protein expression of NCOA4, FTH1, GPX4, and the ratio of microtubule-associated protein 1 light chain 3B (LC3B) Ⅱ/Ⅰ in the hippocampus were detected by Western blot.
RESULTS:
Compared with the sham surgery group, in the model group, the escape latency was prolonged, and the number of platform crossings reduced (P<0.01), the recognition index (RI) was decreased (P<0.01); the hippocampal neurons displayed a blurred laminar structure, disorganized cellular arrangement, and the number of Nissl bodies was decreased (P<0.01); the percentage of iron deposition area in the hippocampus was increased (P<0.01); in the hippocampus, the levels of ROS, iron, MDA, and the protein expression of NCOA4, as well as the LC3B Ⅱ/Ⅰ ratio were increased (P<0.01), the SOD level, and the protein expression of FTH1 and GPX4 were decreased (P<0.01). Compared with the model group, in the electroacupuncture group, the escape latency was shortened and the number of platform crossings was increased (P<0.01), the RI was increased (P<0.01); the hippocampal neurons exhibited more regular morphology, better-organized cellular structure, and the number of Nissl bodies was increased (P<0.05); the percentage of iron deposition area in the hippocampus reduced (P<0.01); in the hippocampus, the levels of ROS, iron, MDA, and the protein expression of NCOA4, as well as the LC3B Ⅱ/Ⅰ ratio were decreased (P<0.01, P<0.05), the SOD level, and the protein expression of FTH1 and GPX4 were increased (P<0.01).
CONCLUSION
Electroacupuncture at "Sishencong" (EX-HN1) and "Fengchi" (GB20) can improve learning and memory abilities in VD rats, and its mechanism may be associated with the regulation of the hippocampal NCOA4/FTH1 signaling pathway, inhibition of ferritinophagy, and alleviation of oxidative stress damage.
Animals
;
Electroacupuncture
;
Dementia, Vascular/genetics*
;
Male
;
Rats
;
Signal Transduction
;
Humans
;
Memory
;
Rats, Sprague-Dawley
;
Nuclear Receptor Coactivators/genetics*
;
Ferritins/genetics*
;
Learning
;
Hippocampus/metabolism*
;
Acupuncture Points
6.Serum immune parameters as predictors for treatment outcomes in cervical cancer treated with concurrent chemo-radiotherapy.
Lihua CHEN ; Weilin CHEN ; Yingying LIN ; Xinran LI ; Yu GU ; Chen LI ; Yuncan ZHOU ; Ke HU ; Fuquan ZHANG ; Yang XIANG
Chinese Medical Journal 2025;138(23):3131-3138
BACKGROUND:
Concurrent chemo-radiotherapy (CCRT) is the standard treatment for locally advanced cervical cancer (LACC), but there are still many patients who suffer tumor recurrence. However, valuable predictors of treatment outcomes remain limited. This study aimed to assess the value of the serum immune biomarkers to predict the prognosis.
METHODS:
We reviewed cervical cancer patients treated with CCRT between January 2014 and May 2018 at Peking Union Medical College Hospital. The systemic immune inflammation index (SII), systemic inflammation response index (SIRI), and lactate dehydrogenase (LDH) were calculated using blood samples. The relationship between immune markers and the treatment outcome was analyzed. The area under the receiver operating characteristic (ROC) curve was used to evaluate the predictive efficiency. The Cox proportional hazards model and log-rank were used to predict overall survival (OS) and disease-free survival (DFS).
RESULTS:
This study included 667 patients. Among them, 195 (29.2%) patients were defined as treatment failure, including 127 (19.0%) patients with pelvic failure, 94 (14.1%) distant failure, and 25 (3.7%) concurrent pelvic and distant failure. It revealed that the tumor stage, size, metastatic lymph nodes (MLNs), and serum immune biomarkers, such as SII, SIRI, and LDH, were significantly related to treatment outcomes. We demonstrated that the optimal cut-off of the SII, SIRI, and LDH were 970.4 × 10 9 /L, 1.3 × 10 9 /L, and 207.52 U/L, respectively. Importantly, this study presented that LDH level had the highest OR (OR = 4.2; 95% CI [2.3-10.8]). Furthermore, the OS and DFS for patients with pre-SII ≥970.5 × 10 9 /L were significantly worse than those with pre-SII <970.5 × 10 9 /L. Similarly, pre-SIRI ≥1.25 × 10 9 /L and pre-LDH ≥207.5 U/L were related to poor survival outcomes.
CONCLUSIONS
This study demonstrated that the baseline SII, SIRI, and LDH levels can be used to accurately and effectively predict the treatment outcomes after CCRT and long-term prognosis. Our results may offer additional prognostic information in clinical, which helps to detect the potential recurrent metastasis in time.
Humans
;
Female
;
Uterine Cervical Neoplasms/drug therapy*
;
Middle Aged
;
Adult
;
Aged
;
Chemoradiotherapy/methods*
;
L-Lactate Dehydrogenase/blood*
;
Treatment Outcome
;
Disease-Free Survival
;
Prognosis
;
ROC Curve
;
Biomarkers, Tumor/blood*
;
Proportional Hazards Models
7.Research progresses of artificial intelligence in imaging diagnosis of children developmental dysplasia of hip
Haoyue LUO ; Xin CHEN ; Jiajun SI ; Jun LI ; Yiran WANG ; Xinran LI ; Ling HE
Chinese Journal of Medical Imaging Technology 2025;41(1):160-163
Developmental dysplasia of hip(DDH)usually occurs in children,and delayed diagnosis of DDH might lead to serious complications and influence long-term prognosis.The application of artificial intelligence(AI)in medical images helps to quantitatively individualize image data,reduce bias generated by manual analysis and achieve early and accurate diagnosis of children DDH.The research progresses of AI in imaging diagnosis of children DDH were reviewed in this article.
8.Research progresses in deep learning reconstruction of low-dose CT image
Jiayuan LI ; Zhenxia LI ; Yiyu CHEN ; Xinran CHEN ; Hongyang GAN ; Qingming HUANG
Chinese Journal of Medical Imaging Technology 2025;41(7):1167-1170
Reconstruction of low-dose CT image faced problems such as low resolution,blurred artifacts and strong noise.Deep learning reconstruction met the needs of reducing radiation dose and improving imaging quality,promoted reconstruction of CT image towards high efficiency,intelligence and integration of clinical diagnosis and treatment.The research progresses in deep learning low-dose CT imaging reconstruction were reviewed in this article.
9.Development and validation of an innovative minimally invasive rotary-cutting surgical system for axillary osmidrosis
Jiajun FENG ; Chaoming DENG ; He HONG ; Fan WU ; Guogui TAO ; Xiaoqing SUN ; Xiaomin LIU ; Tiantian ZUO ; Wanhong WU ; Xinran WANG ; Zichuan CHEN ; Hu ZHANG ; Zhiqi HU ; Guobin CHEN
Chinese Journal of Medical Physics 2025;42(7):952-955
Objective To develop an innovative minimally invasive rotary-cutting surgical system for axillary osmidrosis,and conduct clinical validation.Methods The design concept,technical principles and system composition of the innovative minimally invasive rotary-cutting surgical system for axillary osmidrosis were introduced.A total of 73 patients(146 axillae)with axillary osmidrosis were enrolled as subjects,and underwent surgery using the newly developed surgical system.Clinical validation of the system was performed by evaluating postoperative scarring,odor elimination rate,postoperative complication incidence,and patient satisfaction.Results The study demonstrated favorable clinical outcomes in the following aspects:postoperative scarring,odor elimination rate,postoperative complication incidence,and patient satisfaction.Conclusion The minimally invasive rotary-cutting surgical system for axillary osmidrosis is rationally designed.The rotary-cutting puncture device is safe,effective,minimally invasive,and convenient for axillary osmidrosis surgery,warranting further clinical validation and widespread application.
10.Association Between Vitamin D Status and Insulin Resistance in Adolescents: A Cross-sectional Observational Study
Xiaoyuan GUO ; Yutong WANG ; Zhibo ZHOU ; Shi CHEN ; Mei ZHANG ; Bo BAN ; Ping LI ; Xinran ZHANG ; Qiuping ZHANG ; Kai YANG ; Hongbo YANG ; Hanze DU ; Hui PAN
Medical Journal of Peking Union Medical College Hospital 2025;16(3):577-583
To investigate the correlation between vitamin D nutritional status and insulin resistance in pubertal adolescents. This cross-sectional observational study employed convenience sampling to recruit 2021-grade(8th grade) students from Jining No.7 Middle School in Shandong Province on June 5, 2023. Data collection included questionnaires, physical examinations, and imaging assessments to obtain general information, secondary sexual characteristics development, and bone age. Venous blood samples were collected to measure fasting blood glucose(FBG), fasting insulin(FINS), homeostasis model assessment of insulin resistance(HOMA-IR), and 25-hydroxyvitamin D[25(OH)D] levels. Spearman correlation analysis and multivariate linear regression models were used to examine the associations between serum vitamin D levels and FBG, FINS, and HOMA-IR. The study included 168 pubertal adolescents[69 females(41.1%), 99 males(58.9%); mean age(13.27±0.46) years]. All participants had entered puberty based on sexual development assessment. Vitamin D deficiency was observed in 41 participants(24.4%), insufficiency in 109(64.9%), and sufficiency in 18(10.7%). The median HOMA-IR was 3.49(2.57, 5.14).Significant differences were found across vitamin D status groups for HOMA-IR [4.45(2.54, 6.62) Vitamin D deficiency/insufficiency is prevalent among pubertal adolescents, and serum vitamin D levels show a significant inverse association with insulin resistance. These findings suggest the potential importance of vitamin D status in metabolic health during puberty.

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