1.Key points of the International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with Achondroplasia.
Hangyu PING ; Ran DING ; Cheng HUANG ; Yue PENG ; Zikang ZHONG ; Weiguo WANG
Chinese Journal of Medical Genetics 2026;43(1):5-12
Achondroplasia (ACH) is a common inherited skeletal dysplasia (inherited dwarfism) that compromises quality of life across the lifespan. In 2021, vosoritide became the first approved precision therapy for ACH and is now available in more than 40 countries. Compared with prior symptomatic measures, vosoritide has demonstrated favorable efficacy and a reassuring safety profile. Nevertheless, existing international ACH guidelines largely emphasize complication management and symptomatic care, and there is no unified consensus on pharmacologic therapy. To address this gap, an international expert group developed the International Consensus Guidelines for the Implementation and Monitoring of Vosoritide Therapy in Patients with Achondroplasia providing systematic recommendations that span the continuum of care - from initial patient contact and pre-treatment assessment to medication counseling, injection training, and long-term outcome monitoring. These recommendations complement and refine current management and nursing protocols for individuals with ACH and offer practical guidance for clinicians across diverse regions. This article highlights key elements of the guideline to provide evidence-based support and clinical direction for healthcare professionals in China treating children with ACH using vosoritide.
Humans
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Achondroplasia/drug therapy*
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Consensus
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Practice Guidelines as Topic
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Child
2.Research progress on DNA identification methods of narcotic plants
Jingzhi RAN ; Yankun WANG ; Peng XU ; Mengxiang SU ; Kaiming YAN ; Jin YAN
Journal of China Pharmaceutical University 2026;57(2):181-188
Narcotic plants are strictly regulated worldwide due to their ability to extract drug alkaloids and drug precursor components. Besides the three traditional core species, cannabis, opium poppy, and coca, the misuse of psychoactive plants with addictive properties has become increasingly prevalent globally in recent years, and the establishment of accurate identification methods for such plants has become an urgent need in the field of narcotics control. Within existing identification frameworks, the conventional morphological and chemical analysis methods, despite their long-term application, have demonstrated considerable limitations. In contrast, DNA-based molecular identification techniques have achieved significant advancement in recent years due to their high specificity and stability. This review comprehensively examines current DNA-based identification approaches for narcotic plants through three key dimensions: DNA molecular marker technology, DNA barcoding technology, and emerging molecular biological techniques, and elaborates on the principles, technical characteristics, application scenarios, and research progress of each technology, providing some reference for the scientific selection of DNA identification strategies for narcotic plants in different specific scenarios.
3.Causal association between intrahepatic cholestasis of pregnancy and offspring neurodevelopmental disorders and mediating roles of lipoproteins and ATPase:A Mendelian randomization study
Zhengdong CHEN ; Qingqi RAN ; Minghui XIAO ; Qinyi YU ; Wenjie PENG ; Zhangxue HU
Journal of Army Medical University 2025;47(22):2725-2734
Objective To explore the callsal association between intrahepatic cholestasis of pregnancy(ICP)and offspring attention-deficit hyperactivity disorder(ADHD)and Tourette's syndrome(TS)and its potential mechanisms.Methods Genome wide association study(GWAS)in public datasets was used to extract data.Among them,exposure was ICP(n=123 579),which stems from FinnGen dataset.Outcome was defined as ADHD,TS and other tic disorders(n=23 918),which is extracted from GWAS Catalog.Among mediators,total cholesterol in high-density lipoprotein(TC in HDL)were from the genetic map of the human plasma proteinome(n=21 558),and Obg-like ATPase 1 was from whole-genome study of circulating metabolites(n=3 301).In this study,we chose instrumental variables(IVs)that meets the Mendelian randomization(MR)hypothesis.When using two-sample MR,inverse variance weighted(IVW)was adopted as the primary method,and MR-Egger regression,weighted median,weighted mode,and simple mode were also utilized to analyse the robustness.Cochran's Q test,MR-Egger intercept test and leave-one-out sensitivity analysis were performed to verify the reliability.Significant threshold was set up as P<0.05.When using two-step MR,the first step is two-sample MR from exposure to mediator,and the second step is multivariable MR(MVMR),which is from mediator to outcome.At this time,conditional F-statistic was adopted to test the strength of IVs.At last,product distribution test was applied to determine the significance of mediation effects.Results ICP was significantly related to ADHD and TS as well as other tic disorders in offspring(IVW:OR=1.003,95%CI:1.000~1.006,P=0.035),and sensitivity analysis verified the robustness of the results.The potential positive mediators included TC in HDL[total effect(TE)=2.855×10-3;mediated effect(ME)=8.628×10-4;mediated proportion(MP)=30.217%,95%CI:0.878%~73.954%],and Obg-like ATPase 1(TE=2.855×10-3;ME=1.216×10-3;MP=42.572%,95%CI:6.356%~90.195%).Conclusion ICP is possible to elevate the incidence rate of ADHD and TS and other tic disorders via reducing TC in HDL and Obg-like ATPase 1.
4.Ultrasonic Extraction-Single-Particle Inductively Coupled Plasma Mass Spectrometry for Analysis of Metal Nanoparticles in Seawater Sediments
Jie CHUN ; Yu-Mei SONG ; Chang WANG ; Rui-Ling ZHANG ; Peng-Ran GUO ; Wei-Xin LIANG ; Ting ZHANG
Chinese Journal of Analytical Chemistry 2025;53(6):987-997
Accurate analysis of metal nanoparticles(MNPs)in sediments is a prerequisite for assessing the ecological risks of MNPs in aquatic environmental sediments.In this study,an analytical method for quantitative detection of concentration and particle size distribution of silver-containing nanoparticles(Ag-NPs),zinc-containing nanoparticles(Zn-NPs),cerium-containing nanoparticles(Ce-NPs),and titanium-containing nanoparticles(Ti-NPs)in sediments was established based on ultrasonic extraction-single particle inductively coupled plasma mass spectrometry(SP-ICP-MS).The effects of sample preparation conditions such as extraction solvent type,solid-liquid ratio,ultrasonic time,and settling time on the recovery of MNPs were investigated.The results showed that the extraction of MNPs from sediment by distilled water could effectively eliminate the high background signal interference introduced by the extractant under the conditions of solid-liquid ratio of 1∶400(g∶mL),ultrasonic extraction time of 1 h and settling time of 3 h.The detection limits for particle size of Ag-NPs,Zn-NPs,Ce-NPs and Ti-NPs in sediments were 31,35,26 and 85 nm,respectively,while the detection limits of particle concentrations were 1.21×104,1.90×104,5.26×107 and 1.48×107 particles/g,respectively.The spiking recoveries of Ag-NPs,Zn-NPs,Ce-NPs and Ti-NPs in sediments were 62.1%-108.7%,with relative standard deviations below 10%.This method could rapidly,accurately and simultaneously determine the concentration and particle size distribution of various MNPs in sediments,and was successfully applied to analysis of Ag-NPs,Zn-NPs,Ce-NPs,and Ti-NPs in authentic marine sediments.
5.Advances in the application of gene copy number alteration detection technology in lymphoma
Yu PENG ; Shuang CHEN ; Tingting JIANG ; Can LIN ; Longrong RAN ; Xuelian WU ; Lian LI ; Liangmei LI ; Xinyi TANG ; Yakun ZHANG ; Huiyu XIANG ; Junxi LIU ; Dan JI ; Zailin YANG
International Journal of Laboratory Medicine 2025;46(15):1860-1866
Lymphoma is a highly heterogeneous malignancy characterized by complex molecular regulatory mechanisms that result in significant differences in aggressiveness and prognosis across its subtypes.Gene copy number alteration(CNA)analysis,an emerging technology,has become a pivotal tool in the precision re-search and management of lymphoma.By detecting DNA deletions,amplifications,and chromosomal copy number changes,CNA analysis addresses the limitations of traditional cytogenetic techniques,enhances the ac-curacy of subtype classification,and aids in evaluating tumor heterogeneity and disease progression.This re-view provides a comprehensive summary of CNA detection methods and their applications in lymphoma,with a focus on recent advancements in the field.It offers a comparative analysis of CNA detection techniques and discusses their role in precision diagnosis,subtype classification,monitoring disease progression,predicting therapeutic resistance,and assessing prognosis.Additionally,the review explores the potential applications of CNA analysis in uncovering molecular regulatory mechanisms,optimizing therapeutic strategies,and impro-ving patient survival outcomes.
6.An Amphibians-Derived Protein Provides Novel Biotherapeutics for Various Wounds Treatment
Hao-Ran CHEN ; Nan ZHOU ; Yu-Da LIU ; Li-Hua PENG
Biomolecules & Therapeutics 2025;33(2):399-407
Acute burns and chronic wounds frequently fail to heal owing to various reasons. Most drugs currently used for wound therapy in clinical practice have notable drawbacks, making their application a substantial concern. For instance, anti-inflammatory drugs can exert multisystem toxicity, and cellular therapies are costly and difficult to retain. In recent years, natural functional proteins derived from animals and plants have gained increasing attention owing to their unique biological activities, low cost, and broad application prospects in wound therapy. Herein, we isolated a new protein (JH015Y) from amphibians and demonstrated its excellent wound repair and regeneration properties compared with those of epidermal growth factor, both in vitro and in vivo. JH015 protein increased the proliferative ability of human keratinocytes and skin fibroblasts by 47.73 and 41.40%, respectively. In vivo, the medium-dose (0.5 mg/dose) groups of JH015Y protein demonstrated accelerated wound healing from day 4, with wound healing rates 1.26, 1.27, and 1.14 times that of the blank group in acute wounds, burn wounds, and diabetic ulcer, respectively. Histological analysis of Masson-stained sections indicated that the JH015Y protein contributed to collagen deposition on the wound surface, markedly reduced inflammatory cell infiltration, and exhibited low biological toxicity. Accordingly, the JH015Y protein is a promising biotherapeutic agent for accelerated wound repair and regeneration.
7.Cervical spondylosis: innovative understanding from traditional Chinese medicine and treatment by classic formulas.
Heng CHEN ; Cong-Yang XUE ; Shuang CHEN ; Zi-Ting CHEN ; Tian TANG ; Xin LIU ; Zhi-Peng XI ; Ran KANG ; Lin XIE
China Journal of Chinese Materia Medica 2025;50(9):2596-2604
As one of the chronic diseases with high incidence in contemporary society, cervical spondylosis has increasing patient groups who gradually present a low age, and it seriously affects social and public health. Although modern medicine has made great progress in the pathological research and clinical treatment of cervical spondylosis, patients still face gastrointestinal side effects of nonsteroidal anti-inflammatory drugs(NSAIDs), neck pain, limited mobility, upper limb numbness, and other symptoms after conservative or surgical treatment. In the theory of traditional Chinese medicine(TCM), cervical spondylosis belongs to the categories of "Bi syndrome" "stiff neck" "stiff Bi", etc. With the change of the times, the change of lifestyle, and the application of western medicine treatment, the etiology and pathogenesis of TCM in cervical spondylosis also show new characteristics. In terms of etiology and pathogenesis, it involves the invasion of wind, cold, and dampness, long-term strain, liver and kidney deficiency, Qi and blood stasis, which are associated with factors such as cervical degeneration, muscle tension and spasm, intervertebral disc herniation, and nerve root compression in modern medicine. In terms of the evolution of pathogenesis, in the early stage, wind, cold, and dampness, were more common in Xuanfu, resulting in unfavorable muscles and bones, poor flow of Qi and blood, and cervical spondylosis and radiculopathy. Medium-term phlegm stasis and internal knots, sluggish muscles and veins, and long-term weathering and fire are more likely to occur in the vertebral artery and sympathetic radiculopathy. In the later stage, the positive Qi is depleted; the true Yin is damaged, and the viscera Qi and blood are deficient, which is most common in cervical myelopathy. The strategy of treating cervical spondylosis with TCM classic formulas applies Gegen Decoction, Wutou Decoction, Qianghuo Shengshi Decoction, Mahuang Jiazhu Decoction to patients with wind, cold, and dampness. Patients with phlegm dampness and blood stasis are treated with Huoxue Xiaoling Dan, Jinlingzi Powder, Siwu Decoction, Banxia Baizhu Tianma Decoction, Shuanghe Decoction, etc. For those patients with liver, spleen, and kidney deficiency, Huangqi Guizhi Wuwu Decoction, Tianma Gouteng Decoction, Guishao Dihuang Pills, Shenling Baizhu Powder, and Lizhong Decoction are used to invigorate the spleen, nourish Qi and blood, and tonify liver and kidney. In clinical practice, the authors advocate a safe and effective treatment plan of classic formulas based on deficiency and excess, the integration of formulas and syndromes, and the combination of modern research results, so as to relieve symptoms, reduce recurrence, and reduce medical burden.
Humans
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Spondylosis/drug therapy*
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Medicine, Chinese Traditional/methods*
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Drugs, Chinese Herbal/therapeutic use*
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Cervical Vertebrae/pathology*
8.Development of a balloon sensor device for force-electrical coupling measurement of esophagus.
Peng RAN ; Ying ZHONG ; Yingbing LAI ; Lei LIU ; Yanhang ZHU ; Huantao ZHU
Journal of Biomedical Engineering 2025;42(3):610-619
To address the challenges of capturing micro-strains in detecting esophageal motility disorders and the limitations of existing high-resolution manometry and functional intraluminal imaging probes in directly measuring esophageal tissue electrical impedance, this study proposes a novel flexible balloon sensor structure that integrates a piezoelectric film assembly with a distributed impedance electrode array. Using the electrical analysis module in the finite element analysis (FEA) software, simulations of the forward problem for esophageal impedance detection were conducted to optimize the excitation source parameters, and a physical prototype was fabricated. Under a relative excitation mode with a voltage sensitivity of 2.059%, the voltage output characteristics of the impedance electrode array were analyzed during linear changes in the balloon filling volume. Based on the performance variation of the piezoelectric film assembly, 80% was selected as the optimal filling volume. Force-electric coupling tests were conducted on the balloon sensor using a pressure testing platform, revealing that both the piezoelectric film assembly inside the balloon and the impedance electrodes outside the balloon exhibited significant load differentiation characteristics as the force application point shifted. In summary, this balloon sensor facilitates the localization of force application while simultaneously analyzing esophageal tissue properties, offering a novel diagnostic approach and objective tool for esophageal disease detection.
Esophagus/physiology*
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Electric Impedance
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Humans
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Finite Element Analysis
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Manometry/methods*
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Electrodes
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Esophageal Motility Disorders/physiopathology*
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Equipment Design
9.Three fractionated stereotactic radiotherapy techniques in treatment of intracranial oligometastases:a dosimetric study
Fengwei RAN ; Jiwei LI ; Kang ZHANG ; Xiang ZHAO ; Zhe WANG ; Jianjun LI ; Peng WANG
Journal of Chongqing Medical University 2025;50(7):913-919
Objective:To compare the dosimetric characteristics of three fractionated stereotactic radiotherapy techniques,i.e.,tomo-therapy(TOMO),volumetric-modulated arc therapy(VMAT),and CyberKnife(CK),in the treatment of intracranial oligometastases,and to assess their dose distribution,treatment efficiency,and difference in dose delivered to organs at risk(OARs).Methods:A retro-spective analysis was performed for the clinical data of 54 patients with intracranial oligometastases who underwent fractionated stereo-tactic radiotherapy in The First Affiliated Hospital of Army Medical University in 2021-2023.Varian Eclipse 16.1 Physician Worksta-tion was used to perform tumor target volume delineation,and MANTEIA AccContour 3.2 software was used to perform the delineation of OARs,such as brainstem,spinal cord,and optical nerves.The delineated structures and images were transmitted to TOMO,CK,and Eclipse treatment planning systems to design three different radiotherapy treatment plans.Related key parameters were analyzed using the dose-volume histogram to evaluate the dosimetric characteristics of these three radiotherapy techniques,including conformity index(CI)of the target,dose homogeneity index(HI),beam-on time,the number of monitor units(MU),and the exposure dose of OARs.Results:All three treatment plans(TOMO,VMAT,and CK)met the requirements for prescribed dose.TOMO had a slightly better CI than VMAT and CK(1.05 vs.1.09 and 1.17,P<0.001).VMAT had a better HI than CK and TOMO(1.15 vs.1.28 and 1.46,P<0.001).In terms of execution efficiency,VMAT had a significantly shorter beam-on time than TOMO and CK(5 minutes,1 633 MU vs.10 minutes,8 932 MU and 39 minutes,5 191 MU,P<0.001).In terms of the exposure dose of OARs,CK provided the best protection for the lens,with a maximum dose of 15 cGy for the right lens and 17 cGy for the left lens,and TOMO had an advantage in dose control for the right cochlea,with a mean dose of 88 cGy,while VMAT had the best performance in limiting the dose for the spinal cord,with a maximum dose of 31 cGy(P<0.05).Conclusion:This study shows that TOMO,VMAT,and CK all meet the requirements for the prescribed dose and can effectively protect OARs in the treatment of in-tracranial oligometastases.In clinical practice,the most appropriate technique should be selected based on the features of lesions and treatment goals to achieve individualized treatment.
10.Association between ambient ozone exposure during pregnancy and risk of preterm birth in Guangdong Province
Peng HU ; Shanshan RAN ; Qingmei LIN ; Yin YANG ; Zilong ZHANG ; Xiaoling GUO ; Yonggui GAO ; Jinde ZHAO ; Hualiang LIN
Journal of Environmental and Occupational Medicine 2025;42(4):379-384
Background Air pollution exposure has a significant impact on maternal and child health. However, the research on the association between ambient ozone (O3) exposure during pregnancy and the risk of premature birth in newborns is limited, and the conclusions are inconsistent. Objective To investigate the association of ambient O3 exposure during pregnancy with the risk of preterm birth in Guangdong Province. Methods Data of pregnant women in Guangzhou from 2013 to 2019 and Foshan from 2018 to 2023 were collected, and O3 concentrations during different trimesters were assessed according to maternal residential addresses. Bilinear interpolation was used to evaluate the concentrations of air pollution. A cohort study design was adopted in our study. Restricted cubic spline curves were used to evaluate the exposure-response relationship between O3 exposure and preterm birth risk and explore potential exposure threshold of O3. Logistic regression models were used to evaluate the association of O3 exposure with preterm birth. Results A total of 702 924 pregnant women were included in this study, of whom 43 051 (6.12%) were preterm. The average O3 exposure concentrations of pregnant women during the first, second, third, and whole trimesters were 95.51, 97.51, 100.60, and 97.87 μg·m−3, respectively. We observed J-shaped associations between O3 exposure and preterm birth risk during the second, third, and whole trimesters of pregnancy using restricted cubic spline curves. This study found that there were threshold concentrations between O3 exposure and preterm birth risk during different gestational periods, and the threshold concentrations in the first, second, third, and whole trimesters were 112.32, 99.83, 111.74, and 112.46 μg·m−3, respectively. During the second, third, and whole trimesters of pregnancy, after adjusting for maternal age, baby sex, pre-pregnancy body mass index, mode of delivery, baby birth weight, gestational diabetes, and gestational hypertension, the odds ratios (OR) of preterm birth were 1.02 (95%CI: 1.01, 1.04), 1.02 (95%CI: 1.00, 1.03), and 1.17 (95%CI: 1.13, 1.21) for each 10 μg·m−3 increase in O3 concentration above the O3 threshold. No significant association was found between O3 exposure and the risk of preterm birth during the first trimester. Conclusion There is a nonlinear association between the risk of preterm birth and O3 exposure during pregnancy, and higher concentrations of O3 exposure during pregnancy are associated with the risk of preterm birth. Above the O3 threshold concentration during pregnancy, especially during the second, third, and whole trimesters, the risk of preterm birth elevates with the increase of O3 exposure concentrations.

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