1.Genetic disease diagnosis and treatment in Shanghai: Survey and countermeasures for clinical genetics specialist training.
Xiaoju HUANG ; Lin HAN ; Li CAO ; Taosheng HUANG ; Duan MA ; Jian WANG ; Wenjuan QIU ; Fanyi ZENG ; Luming SUN ; Chenming XU ; Songchang CHEN ; Xinyu KUANG ; Hong TIAN
Chinese Journal of Medical Genetics 2026;43(4):241-247
OBJECTIVE:
To investigate the current status of clinical genetics specialization development and the diagnostic and therapeutic capabilities for hereditary diseases across medical institutions in Shanghai, and to assess the necessity and feasibility of establishing training bases for clinical genetics specialists.
METHODS:
By employing a cross-sectional survey design, the Clinical Genetics Committee of Shanghai Medical Association has conducted questionnaire surveys from March to April 2025 across 54 healthcare institutions in Shanghai (including 33 tertiary hospitals and 21 secondary hospitals). The survey involved administrative departments and medical personnel from 15 clinical specialties. The survey has covered current genetic disease diagnosis and treatment practices, relevant and specialised disease types, genetic department establishment, testing capabilities, personnel teams, and training requirements.
RESULTS:
The results revealed that 78.0% of clinical departments surveyed had treated patients with hereditary disorders. Shanghai possesses diagnostic and therapeutic expertise for over 95% of hereditary diseases listed in its rare disease catalogue, reflecting both the practical clinical demand for such conditions and the city's overall diagnostic and therapeutic strengths in this field. Nevertheless, significant disparities exist in the development of genetics departments across different tiers of healthcare institutions. Resources for genetic testing capabilities (including molecular, cellular, and biochemical testing) are also unevenly distributed across different tiers of hospitals. The survey further revealed that only 26.0% of departments believe that their current physician structure fully meets the diagnostic and treatment demands. Over 90% of departments consider standard training for clinical genetic specialists necessary, with 74.0% expressing willingness to participate in establishing training bases. Based on above findings and thorough deliberation, the Clinical Genetics Committee of the Shanghai Medical Association proposes advancing specialist training and discipline development through establishing a standard training system. The committee has drafted a three-year training protocol featuring a "joint training"-centered model, recommending a pilot-first, dynamically optimized strategy for steadily advancing training base development.
CONCLUSION
Shanghai faces substantial demand for genetic disease diagnosis and treatment, yet exhibits shortcomings in clinical genetics specialization development, resource allocation, and talent pipeline cultivation. To establish a standard training system holds significant practical importance and is underpinned by a broad demand.
Humans
;
China
;
Surveys and Questionnaires
;
Genetic Diseases, Inborn/genetics*
;
Cross-Sectional Studies
;
Genetics, Medical/education*
;
Genetic Testing
2.Lysosomes as Regulators of Cancer Stemness and Drug Resistance
Fa-Xiao ZHOU ; Di-Ping YU ; Si-Qi TAN ; Hong-Yu DUAN ; Xiao-Ming WU
Progress in Biochemistry and Biophysics 2026;53(4):951-967
Cancer stem cells (CSCs) represent a distinct subpopulation of cells characterized by self-renewal capacity, differentiation potential, and critical roles in driving tumor progression, therapeutic resistance, recurrence, and maintenance of the tumor microenvironment. Targeting CSCs has emerged as a pivotal direction in cancer research, offering novel strategies to overcome drug resistance and prevent metastasis and relapse. Lysosomes, traditionally recognized as central organelles for intracellular degradation and recycling, are indispensable for cellular homeostasis. Dysregulation of lysosomal function is intimately linked to various diseases, including cancer. In tumors, aberrant lysosomal activity can promote malignant progression through mechanisms such as altering metabolic pathways, enhancing lysosomal exocytosis, modulating drug resistance, and interfering with autophagy-lysosomal pathways. Recent studies have underscored the involvement of lysosomes in regulating CSC properties. This review synthesizes findings on lysosomal regulation of CSCs through the following aspects. (1) Lysosomes exert complex and critical bidirectional control over CSC stemness maintenance through three degradation pathways that are dependent on their degradative function. (i) The lysophagy pathway. This pathway exhibits dual roles. Activation can sustain CSC functions; for instance, in glioblastoma, hypoxia upregulates Gal-8 via the STAT3/HIF1α signaling axis to induce autophagy, supporting stem cell survival. In head and neck squamous cell carcinoma, degradation of GSK3β activates the Wnt pathway, enhancing stemness. Conversely, this pathway can suppress stemness by degrading stemness-related proteins such as BMI-1 and OCT4A, thereby impairing CSC self-renewal capacity. (ii) Mitophagy pathway. In non-small cell lung cancer stem cells, mitophagy-related mechanisms, such as the accumulation of mitochondrial DNA (mtDNA) activating the TLR9-Notch1-AMPK signaling axis, have been shown to promote CSC proliferation. (iii) Autophagosome-dependent lysosomal degradation pathway. This pathway directly regulates stemness-related proteins in a bidirectional manner. Enhanced degradative function can promote CSC properties, exemplified by the degradation of NUMB to activate Notch signaling. Conversely, attenuated degradative function can also enhance stemness by stabilizing oncoproteins (e.g., protecting Frizzled-1 from degradation to sustain Wnt signaling) or preventing the degradation of tumor suppressors (e.g., inhibiting Notch degradation). (2) Constituent proteins of lysosomes, including membrane proteins and luminal acid hydrolases, participate in regulating CSC stemness. Regarding membrane proteins, LAMP2A facilitates chaperone-mediated autophagy to maintain stemness in glioblastoma and ovarian cancer. V-ATPase, by maintaining an acidic luminal environment, promotes proliferation and drug resistance in glioma stem cells. Among hydrolases, cathepsins B and L are highly expressed in pancreatic and ovarian cancers and correlate with poor prognosis. Furthermore, targeting lysosomes to induce lysosomal membrane permeabilization (LMP) triggers lysosome-mediated cell death, presenting a potential therapeutic strategy for eradicating CSCs.(3) The acidic luminal environment, single-membrane structure, and the presence of transmembrane transporters (e.g., ABCA3) enable lysosomes to passively trap or actively uptake and sequester chemotherapeutic drugs. Subsequent drug extrusion via exocytosis confers drug resistance. In CSCs, this lysosome-mediated drug sequestration, often cooperating with autophagy, establishes multimodal drug resistance. Therefore, targeting lysosomal function represents a potential strategy to overcome therapy resistance. The central role of lysosomes in regulating CSC stemness and resistance positions them as highly promising therapeutic targets. Strategies aimed at disrupting lysosomal function to selectively eliminate CSCs include: inhibiting the lysosome-autophagy system using agents like IITZ or lovastatin; inducing lysosomal membrane permeabilization (LMP) with compounds such as hexamethylene amiloride to compromise membrane stability; and disrupting the acidic luminal environment using drugs like siramesine or the K/H transport compound 2. In conclusion, lysosomes critically regulate CSC stemness maintenance and drug resistance through degradative pathways, membrane protein functions, luminal hydrolase activities, and drug sequestration mechanisms. This redefines the lysosome from a traditional “waste disposal unit” to a “signal integration center” in CSCs. The duality and context-dependency of lysosomal function in CSCs offer novel insights into the heterogeneity observed across different tumors. Targeting lysosomal vulnerabilities—such as inducing LMP, disrupting acidity, or blocking autophagic flux—provides a strategy to bypass canonical CSC resistance mechanisms and directly trigger cell death. This establishes the lysosome as a key target to overcome CSC-mediated therapy resistance, paving the way for developing diverse candidate drugs and innovative combination therapies in oncology.
3.Discussion on processing time for Polygonatum kingianum based on analysis of correlation between sugar components and color changes
GUO Hong ; YAO Rui ; LI Zhe ; FAN Jing ; WANG Ying ; GUO Xiaohan ; CHEN Jia ; DUAN Baozhong ; YANG Jianbo ; JING Wenguang ; CHENG Xianlong ; WEI Feng
Drug Standards of China 2026;27(1):0083-0091
Objective: To investigate the correlation between color parameters (L*, a*, b*, Eab*) and the contents of reducing sugars, total polysaccharides, total oligosaccharides, as well as four saccharides (fructose, glucose, sucrose, and kestose) during the nine cycles of steaming and sun-drying processing of Polygonatum kingianum, and to preliminarily explore the optimal processing duration.
Methods: The color changes were objectively evaluated using a colorimeter. The anthrone-sulfuric acid method was employed to determine total polysaccharides and oligosaccharides. The 3,5-dinitrosalicylic acid (DNS) colorimetric method was used to measure total reducing sugar content. High-performance liquid chromatography coupled with charged aerosol detection (HPLC-CAD) was applied for quantitative analysis of fructose, glucose, sucrose, and kestose. Multivariate statistical analysis was conducted to assess samples from different processing stages.
Results: Significant variations in color and component contents were observed across processing stages. The herbal pieces progressively darkened with increased processing cycles: brightness (L*) and total color difference (Eab*) initially decreased then stabilized, while a* (red-green) and b* (yellow-blue) values first increased then declined. Total polysaccharides and oligosaccharides showed overall decreasing trends, whereas reducing sugars initially increased before stabilizing. Fructose and glucose levels rose continuously, while sucrose and kestose decreased progressively, becoming undetectable after five cycles.
Conclusion: The chromatic alteration and saccharide composition of P. kingianum showed significant correlation with processing duration. Both total color difference (Eab*) and reducing sugar content stabilized after four processing cycles (12 hours), suggesting that four cycles of steaming and sun-drying may represent the optimal processing duration.
4.Analytical research on processing techniques of Polygoni Multiflori Radix Praeparata based on chemical composition and color changes correlation
YAO Rui ; GUO Hong ; LI Zhe ; GUO Xiaohan ; ZHANG Xiaoshu ; DUAN Baozhong ; YANG Jianbo ; CHEN Jia ; JING Wenguang ; CHENG Xianlong ; WEI Feng
Drug Standards of China 2026;27(1):0100-0108
Objective: To investigate the correlation between the color parameters (L*, a*, b*, Eab* values) of Polygoni Multiflori Radix Praeparata powder prepared by different processing techniques and the contents of 2,3,5,4’-tetrahydroxystilbene-2-O-β-D-glucopyranoside, emodin, physcion, emodin-8-O-β-D-glucopyranoside, physcion-8-O-β-D-glucopyranoside.
Methods: The L*, a*, b* and Eab* values of Polygoni Multiflori Radix Praeparata powder prepared by different processing techniques were determined by spectrophotometer, and the contents of the five components were determined by high performance liquid chromatography. Secondly, SPSS 26.0 software and Simca 14.1 software were used to analyze the correlation.
Results: Through the hierarchical cluster analysis (HCA), it was found that the steamed samples and black bean steamed samples could be obviously divided into two categories: raw products and processed products. The processed products could be further divided into 2-8 h and 12-48 h. Pearson correlation analysis showed that the content of stilbene glycoside was significantly positively correlated with L*, a* and b* values (P<0.01). The a* value was significantly positively correlated with the content of emodin and physcion (P<0.01). Emodin-8-O-β-D-glucoside was positively correlated with L* value and b* value, while physcion-8-O-β-D-glucoside was negatively correlated with a* value. Partial least squares discriminant analysis (PLS) showed that 2,3,5,4’-tetrahydroxystilbene-2-O-β-D-glucoside (VIP=1.69) and emodin-8-O-β-D-glucoside (VIP=1.06) were the key variables affecting chromaticity characteristics (P<0.01).
Conclusion: The three processes of steaming, black bean steaming and black bean stewing are consistent in composition transformation and chromaticity variation, and stilbene glycoside can be used as a specific index component to characterize the processed color. Chromatic parameters can effectively reflect the processing progression and serve as quality monitoring indicators during production.
5.Outcome Framing and Expression Style in Sleep Health Messages for Students in Medical and Health-Related Disciplines
Hong KANG ; Daiyun HE ; Yizhen WEI ; Ying XIA ; Lu WANG ; Shengnan YE ; Jixiaoyu CHEN ; Wenli DUAN
Medical Journal of Peking Union Medical College Hospital 2026;17(5):1397-1406
To compare psychological reactance, intention to adopt sleep-management recommendations, and intention to use sleep-support resources among students in medical and health-related disciplines exposed to sleep health messages with different outcome frames and expression styles, and to provide evidence for the design of sleep health information materials. A 2×2 between-subject randomized message experiment was conducted. A total of 320 students in medical and health-related disciplines were included in the analysis. The questionnaire system randomly presented each participant with one of four sleep health messages combining gain versus loss framing with autonomy-supportive versus controlling expression. All main measures were assessed immediately after message exposure. Intention to adopt sleep-management recommendations was the primary outcome, and the main effect of expression style was the primary effect; a 2×2 analysis of variance was performed, with marginal mean differences reported. The six items assessing intention to use sleep-support resources were secondary outcomes and were analyzed separately using 2×2 linear models with Holm adjustment; generalized estimating equations(GEE) were used as an aggregate supplementary analysis. The statistical mediation relationship involving psychological reactance was examined exploratorily using bootstrap analysis. For the primary outcome, the marginal mean difference between autonomy-supportive and controlling expression was 0.661 points(95% CI: 0.530-0.791; The estimated difference associated with expression style is larger than that associated with outcome framing. Autonomy-supportive expression is associated with greater intention to adopt sleep-management recommendations and greater intention to use each sleep-support resource. The statistical mediation relationship involving psychological reactance provides a clue for understanding this difference.
6.Ameliorative effects of Lycii Fructus-Chrysanthemi Flos at different ratios on retinal damage in mice.
Bing LI ; Sheng GUO ; Yue ZHU ; Xue-Sen WANG ; Dan-Dan WEI ; Hong-Jie KANG ; Wen-Hua ZHANG ; Jin-Ao DUAN
China Journal of Chinese Materia Medica 2025;50(3):732-740
This study aimed to compare the ameliorative effects of Lycii Fructus and Chrysanthemi Flos at different ratios on retinal damage in mice and to elucidate the underlying mechanisms. A retinal injury model was established by intraperitoneal injection of sodium iodate(NaIO_3) solution. The mice were divided into the following groups: blank group, model group, positive drug(AREDS 2) group, low-and high-dose groups of Lycii Fructus and Chrysanthemi Flos at 1∶1, low-and high-dose groups at 3∶1, and low-and high-dose groups at 1∶3. Administration was carried out 15 days after modeling. The visual acuity of the mice was assessed using the black-and-white box test. The fundus was observed using an optical coherence tomography device, and retinal thickness was measured. HE staining was used to observe the morphology and pathological changes of the retina. The levels of oxidative factors in serum and ocular tissues were measured using assay kits. The levels of inflammatory factors in serum and ocular tissues were detected by enzyme-linked immunosorbent assay(ELISA), and the expression of Nrf2, HO-1, and NF-κB proteins in ocular tissues was analyzed by Western blot. The results showed that after administration of Lycii Fructus and Chrysanthemi Flos at different ratios, the model group showed improved retinal thinning and disordered arrangement of retinal layers, elevated content of SOD and GSH in the serum and ocular tissues, and reduced levels of MDA, TNF-α, IL-1β, and IL-6. Lycii Fructus and Chrysanthemi Flos at 1∶1 and 1∶3 showed better improvement effects. The combination significantly upregulated the expression levels of Nrf2 and HO-1 and downregulated the expression of NF-κB p65. These results indicate that Lycii Fructus and Chrysanthemi Flos at different ratios can improve retinal damage, reduce oxidative stress, and alleviate inflammation in both the body and ocular tissues of mice. The mechanism may be related to the regulation of the Nrf2/HO-1 and NF-κB signaling pathways in ocular tissues. These findings provide a theoretical basis for the clinical application of Lycii Fructus and Chrysanthemi Flos in the treatment of dry age-related macular degeneration.
Animals
;
Mice
;
Retina/injuries*
;
Male
;
Lycium/chemistry*
;
Drugs, Chinese Herbal/administration & dosage*
;
Chrysanthemum/chemistry*
;
NF-kappa B/genetics*
;
Humans
;
Retinal Diseases/metabolism*
;
NF-E2-Related Factor 2/metabolism*
;
Oxidative Stress/drug effects*
;
Flowers/chemistry*
;
Heme Oxygenase-1/genetics*
7.Persistent HPV Infection Among Women in Zhengzhou, China: A Prevalence Study
Haixia DUAN ; Jin QIAN ; Yao ZHANG ; Zhimin REN ; Guohong ZHAO ; Junyan HONG ; Xinmin LI
Cancer Research on Prevention and Treatment 2025;52(9):770-775
Objective To analyze the status of persistent human papillomavirus (HPV) infection and the distribution of viral subtypes in the Zhengzhou region. Methods Clinical data of
8.IDENTIFICATION AND COMPOSITION OF MOSQUITO SPECIES IN EMEIFENG NATURE RESERVE,FUJIAN PROVINCE,CHINA
Jing-Wen XIE ; Ming WANG ; Yu-Tong DU ; Gang WANG ; Zi-Ge YIN ; Jing-Hong CAI ; Qing LIU ; Heng-Duan ZHANG ; Tong-Yan ZHAO ; En-Jiong HUANG
Acta Parasitologica et Medica Entomologica Sinica 2025;32(2):112-118
Objective In this preliminary survey,we sought to determine the composition of mosquito species inhabiting the Emeifeng Nature Reserve,Fujian Province,China.Methods Mosquito larvae were collected by straw and spoon trapping,and adult mosquitoes were collected by lamp trapping at selected breeding sites in the reserve.The specimens were initially identified based on morphology,with subsequent verification using molecular biology methods.Results A total of 34 mosquito species in 13 genera were collected,among which,there were 4 species of Anopheles(Genus Anopheles Meigen,1818),2 species of Lutzia(Genus Lutzia Theobald,1903),15 species of Culex(Genus Culex Linnaeus,1758),4 species of Stegomyia(Genus Stegomyia Theobald,1901),and single species of Hulecoeteomyia(Genus Hulecoeteomyia Theobald,1904),Luius(Genus Luius Reinert,Harbach et Kitching,2008),Aedes(Genus Aedes Meigen,1818),Downsiomyia(Genus Downsiomyia Vargas,1950),Collessius(Genus Collessius Reinert,Harbach et kitching,2006),Uranotaenia(Genus Uranotaenia Lynch 1891),Armigeres(Genus Armigeres Theobald,1901),Toxorhynchites(Genus Toxorhynchites Theobald,1901),and pestle mosquito(Genus Tripteroides Giles,1904).Conclusions The species composition of mosquitoes sampled in the Emeifeng Nature Reserve will provide a basis for further research on mosquito vectors and contribute to measures for local mosquito control.
9.The relationship between ectopic fat and iron deposition in muscle and glucose metabolism in patients with elderly obese patients
Hao Nie ; Min Liu ; Junhong Duan ; Hong Liu
Acta Universitatis Medicinalis Anhui 2025;60(11):2131-2136
Objective:
To explore the relationship between muscle fat deposition , muscle iron deposition , and glu- cose metabolism in elderly obese patients .
Methods:
Elderly obese patients who visited the outpatient clinic were selected . Oral glucose tolerance tests were performed . Muscle fat and iron deposition in the abdominal wall and pa- raspinal muscles at the L3 vertebra level were quantified using the Dixon technique based on nuclear magnetic reso- nance .
Results:
A total of 140 elderly obese patients were included , among which 46 were newly diagnosed with type 2 diabetes mellitus (T2DM) , 44 had impaired glucose tolerance (IGR) , and 50 had normal glucose tolerance (NGT) . Compared to NGT and IGR groups , patients with T2DM had significantly increased muscle fat deposition , iron deposition , and visceral fat , while subcutaneous fat was significantly reduced (P < 0. 05) . After adjusting for confounding factors using multivariate logistic regression , muscle fat deposition was identified as an independent risk factor for glucose metabolism disorders : patients with muscle fat≥42. 2% had a 2. 9 times risk of glucose me- tabolism abnormalities compared to those with muscle fat < 42. 2% .
Conclusion
With the occurrence of glucose metabolism disorders , muscle fat and iron deposition gradually increase in elderly obese patients . Muscle fat depo- sition is an independent risk factor for predicting glucose metabolism abnormalities in elderly obese patients .
10.Equivalence of SYN008 versus omalizumab in patients with refractory chronic spontaneous urticaria: A multicenter, randomized, double-blind, parallel-group, active-controlled phase III study.
Jingyi LI ; Yunsheng LIANG ; Wenli FENG ; Liehua DENG ; Hong FANG ; Chao JI ; Youkun LIN ; Furen ZHANG ; Rushan XIA ; Chunlei ZHANG ; Shuping GUO ; Mao LIN ; Yanling LI ; Shoumin ZHANG ; Xiaojing KANG ; Liuqing CHEN ; Zhiqiang SONG ; Xu YAO ; Chengxin LI ; Xiuping HAN ; Guoxiang GUO ; Qing GUO ; Xinsuo DUAN ; Jie LI ; Juan SU ; Shanshan LI ; Qing SUN ; Juan TAO ; Yangfeng DING ; Danqi DENG ; Fuqiu LI ; Haiyun SUO ; Shunquan WU ; Jingbo QIU ; Hongmei LUO ; Linfeng LI ; Ruoyu LI
Chinese Medical Journal 2025;138(16):2040-2042


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