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 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.
5.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.
6.Study on the applied value of combined clinical and ultrasound multiparameter constructed nomogram for predicting HER-2-positive breast cancer
Xinran ZHANG ; Yan SHEN ; Jiaojiao HU ; Qingqing CHEN ; Yangjie XIAO ; Feng LU ; Shasha YUAN ; Xiaohong FU
The Journal of Practical Medicine 2025;41(18):2812-2819
Objective To evaluate the predictive value of a nomogram model developed by integrating clinical and ultrasound multiparameters for HER-2-positive breast cancer.Methods This study retrospectively enrolled 343 patients with pathologically confirmed breast cancer from three medical centers and randomly divided them into training and validation cohorts.Univariate analysis,LASSO regression,and multivariate logistic regres-sion were conducted on the training set to identify independent prognostic factors and construct a nomogram model.Bootstrap resampling with 1000 iterations was performed to evaluate the model's robustness.Model calibration was assessed using calibration curves and the Hosmer-Lemeshow goodness-of-fit test.Receiver operating characteristic(ROC)curves were generated to evaluate model discrimination,and the area under the curve(AUC)along with other performance metrics were calculated.Decision curve analysis was employed to assess the clinical utility of the model,and the validation cohort was used for external validation.Results Univariate,LASSO,and multivariate regression analyses demonstrated that age,TTP(time to peak),and the presence of a filling defect sign were independent predictors of HER-2-positive breast cancer(all P<0.05).Based on these independent predictors,a nomogram model was constructed.Bootstrap validation with 1,000 resamples indicated that the model's predictive performance was stable.The Hosmer-Lemeshow test confirmed satisfactory model calibration,while the calibration curve illustrated accurate prediction probabilities.The area under the curve(AUC)for the training set was 0.863(95%CI:0.806~0.920),and for the validation set,it was 0.846(95%CI:0.764~0.929),indicating strong discriminative and generalization capabilities.Additionally,the clinical decision curve analysis demonstrated favor-able clinical utility.Conclusion A nomogram model integrating clinical and multimodal ultrasound parameters demonstrates potential utility in predicting HER-2-positive breast cancer.
7.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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8.A synthetic peptide, derived from neurotoxin GsMTx4, acts as a non-opioid analgesic to alleviate mechanical and neuropathic pain through the TRPV4 channel.
ShaoXi KE ; Ping DONG ; Yi MEI ; JiaQi WANG ; Mingxi TANG ; Wanxin SU ; JingJing WANG ; Chen CHEN ; Xiaohui WANG ; JunWei JI ; XinRan ZHUANG ; ShuangShuang YANG ; Yun ZHANG ; Linda M BOLAND ; Meng CUI ; Masahiro SOKABE ; Zhe ZHANG ; QiongYao TANG
Acta Pharmaceutica Sinica B 2025;15(3):1447-1462
Mechanical pain is one of the most common causes of clinical pain, but there remains a lack of effective treatment for debilitating mechanical and chronic forms of neuropathic pain. Recently, neurotoxin GsMTx4, a selective mechanosensitive (MS) channel inhibitor, has been found to be effective, while the underlying mechanism remains elusive. Here, with multiple rodent pain models, we demonstrated that a GsMTx4-based 17-residue peptide, which we call P10581, was able to reduce mechanical hyperalgesia and neuropathic pain. The analgesic effects of P10581 can be as strong as morphine but is not toxic in animal models. The anti-hyperalgesic effect of the peptide was resistant to naloxone (an μ-opioid receptor antagonist) and showed no side effects of morphine, including tolerance, motor impairment, and conditioned place preference. Pharmacological inhibition of TRPV4 by P10581 in a heterogeneous expression system, combined with the use of Trpv4 knockout mice indicates that TRPV4 channels may act as the potential target for the analgesic effect of P10581. Our study identified a potential drug for curing mechanical pain and exposed its mechanism.
9.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.
10.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

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