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.USP20 as a super-enhancer-regulated gene drives T-ALL progression via HIF1A deubiquitination.
Ling XU ; Zimu ZHANG ; Juanjuan YU ; Tongting JI ; Jia CHENG ; Xiaodong FEI ; Xinran CHU ; Yanfang TAO ; Yan XU ; Pengju YANG ; Wenyuan LIU ; Gen LI ; Yongping ZHANG ; Yan LI ; Fenli ZHANG ; Ying YANG ; Bi ZHOU ; Yumeng WU ; Zhongling WEI ; Yanling CHEN ; Jianwei WANG ; Di WU ; Xiaolu LI ; Yang YANG ; Guanghui QIAN ; Hongli YIN ; Shuiyan WU ; Shuqi ZHANG ; Dan LIU ; Jun-Jie FAN ; Lei SHI ; Xiaodong WANG ; Shaoyan HU ; Jun LU ; Jian PAN
Acta Pharmaceutica Sinica B 2025;15(9):4751-4771
T-cell acute lymphoblastic leukemia (T-ALL) is a highly aggressive hematologic malignancy with a poor prognosis, despite advancements in treatment. Many patients struggle with relapse or refractory disease. Investigating the role of the super-enhancer (SE) regulated gene ubiquitin-specific protease 20 (USP20) in T-ALL could enhance targeted therapies and improve clinical outcomes. Analysis of histone H3 lysine 27 acetylation (H3K27ac) chromatin immunoprecipitation sequencing (ChIP-seq) data from six T-ALL cell lines and seven pediatric samples identified USP20 as an SE-regulated driver gene. Utilizing the Cancer Cell Line Encyclopedia (CCLE) and BloodSpot databases, it was found that USP20 is specifically highly expressed in T-ALL. Knocking down USP20 with short hairpin RNA (shRNA) increased apoptosis and inhibited proliferation in T-ALL cells. In vivo studies showed that USP20 knockdown reduced tumor growth and improved survival. The USP20 inhibitor GSK2643943A demonstrated similar anti-tumor effects. Mass spectrometry, RNA-Seq, and immunoprecipitation revealed that USP20 interacted with hypoxia-inducible factor 1 subunit alpha (HIF1A) and stabilized it by deubiquitination. Cleavage under targets and tagmentation (CUT&Tag) results indicated that USP20 co-localized with HIF1A, jointly modulating target genes in T-ALL. This study identifies USP20 as a therapeutic target in T-ALL and suggests GSK2643943A as a potential treatment strategy.
6.Perifornical UCN3 Neurons Regulate Overeating-Induced Weight Gain.
Shanshan LU ; Xinran ZHANG ; Wanqi CHEN ; Baofang ZHANG ; Haiyang JING ; Yunlong XU ; Fengling LI ; Chenyu JIANG ; Gaowei CHEN ; Xiaofei DENG ; Yingjie ZHU
Neuroscience Bulletin 2025;41(6):1103-1108
7.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
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Female
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Uterine Cervical Neoplasms/drug therapy*
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Middle Aged
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Adult
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Aged
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Chemoradiotherapy/methods*
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L-Lactate Dehydrogenase/blood*
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Treatment Outcome
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Disease-Free Survival
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Prognosis
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ROC Curve
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Biomarkers, Tumor/blood*
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Proportional Hazards Models
8.Advances in Research and Application of Bio-based Microsphere Adsorbents in Blood Adsorption.
Xinran GUO ; Yuewei NIU ; Weikang CHEN ; Hua ZOU ; Zhenggen YANG ; Suhua XU
Chinese Journal of Medical Instrumentation 2025;49(5):527-533
One of the key components of adsorbents for blood purification is the microsphere adsorbent. Microsphere adsorbents should meet the following requirements: stable physical and chemical structures, easy for functional modification to endow the adsorbents with specific adsorption functions or characteristics, with good biocompatibility and with low non-specific adsorption, as well as with enough mechanical strength. Microsphere adsorbents prepared from polysaccharide bio-based materials fulfill the above requirements and have been widely used in the field of blood adsorption. In this article, adsorbents prepared from polysaccharide bio-based materials such as cellulose, agarose, alginate, as well as adsorbents prepared from the aforementioned materials and carbon materials and the application of the said bio-based adsorbents in blood adsorption is reviewed. The future development is also discussed, aiming to provide guidance and reference for the preparation, functional modification and application research of bio-based adsorbents for blood adsorption.
Microspheres
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Adsorption
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Humans
9.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.
10.Body Composition Profiles and Associated Factors in Adolescents UndergoingLong-term Regular Exercise
Yutong WANG ; Xiaoyuan GUO ; Hanze DU ; Hui PAN ; Wei WANG ; Mei ZHANG ; Bo BAN ; Ping LI ; Xinran ZHANG ; Qiuping ZHANG ; Hongshuang SUN ; Rong LI ; Shi CHEN
Medical Journal of Peking Union Medical College Hospital 2025;16(3):591-597
To investigate body composition and associated factors in adolescents undergoing long-term regular sports training. This prospective longitudinal cohort study employed convenience sampling to recruit adolescents receiving structured athletic training at Jining Sports Training Center in June 2023. Baseline measurements included height, weight, body mass index (BMI), blood pressure, heart rate, waist circumference, and hip circumference. Questionnaires assessed sleep duration, screen time, and household income. Follow-up measurements in June 2024 repeated these assessments while adding bioelectrical impedance analysis for body composition (lean mass, skeletal muscle mass, fat mass, and body fat percentage). Linear regression models examined associations between training type (direct-contact vs. non-contact sports) and follow-up body fat percentage, BMI, and waist circumference as dependent variables, adjusting for covariates. The study included 110 adolescents (39 female, 71 male) with median age 13.21 years (IQR: 12.46-14.33). Participants comprised 65 direct-contact and 45 non-contact athletes. Baseline prevalence rates were 27.27% for overweight/obesity, 24.55% for elevated waist circumference, and 16.36% for elevated blood pressure. At follow-up, corresponding rates were 24.55%, 26.36%, and 13.64% respectively. The elevated blood pressure subgroup showed significantly higher waist circumference ( Despite regular athletic training, substantial proportions of adolescents exhibited overweight/obesity, abdominal obesity, and elevated blood pressure, warranting clinical attention. Training modality appears to influence body composition changes, with direct-contact sports associated with more favorable adiposity-related outcomes.

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