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

ObjectiveTo explore the vascular endothelial injury in male mice caused by exposure to polystyrene microplastics （PS-MPs） and the intervention effect of luteolin on vascular remodeling. Additionally， to investigate the mechanism through the oxidative system and metabolomics. MethodsThirty-two C57BL/6 mice （6-8 weeks old） were randomly divided into the saline group （saline group）， the 0.1 mg/kg PS-MPs exposure group （0.1PS-MPs group）， the 1 mg/kg PS-MPs exposure group （1PS-MPs group）， and the 1 mg/kg PS-MPs + luteolin treatment group （1PS-MPs + Lut group）， with 8 mice in each group. After 8 weeks of intervention， the body weight， blood pressure， aortic organ coefficient， and aortic histopathological changes of mice in each group were detected； the total cholesterol （TC）， triglyceride （TG）， and high-density lipoprotein cholesterol （HDL-C） lipid metabolism-related indicators in the aorta of mice were detected； the reactive oxygen species （ROS）， glutathione （GSH）， and malondialdehyde （MDA） oxidative stress-related indicators were detected； the endothelin （ET-1）， nitric oxide （NO）， vascular endothelial growth factor A （VEGF-A）， vascular cell adhesion molecule-1 （VCAM-1/CD106）， and intercellular adhesion molecule-1 （ICAM-1/CD54） endothelial function-related indicators and serum metabolomics were detected. ResultsCompared to the saline group， exposure to PS-MPs resulted in pathological thickening of the mouse aorta， increased aortic organ coefficient， and elevated blood pressure. Lipid metabolism-related indicators， including TC and TG， were elevated， while HDL-C was reduced， indicating lipid metabolism disorder in mice. Oxidative stress markers such as ROS and MDA increased， whereas GSH decreased， demonstrating oxidative damage. Vascular endothelial inflammation and injury markers， including ET-1， VEGF-A， VCAM-1， and ICAM-1， were upregulated， while the vasodilatory substance NO was downregulated， confirming endothelial injury. Furthermore， serum metabolomics results revealed that PS-MPs exposure induced endothelial damage by disrupting metabolic pathways such as the citrate cycle. Compared to the PS-MPs group， luteolin significantly reversed these effects， attenuating oxidative stress and lipid metabolism disorders， and effectively repairing endothelial injury. ConclusionPS-MPs induce vascular toxicity through oxidative stress and lipid metabolism. Luteolin effectively alleviates endothelial damage and vascular remodeling.

ObjectiveTo investigate the possible mechanism of Wenyang Shengji Ointment （温阳生肌膏， WSO） in the treatment of diabetic wounds with yin syndrome. MethodsA total of 24 SD rats were randomly divided into a group （n=6） and modeling group （n=18）. The modeling group rats were fed with high-fat diet for 14 days and then were injected intraperitoneally with streptozotocin to induce diabetic model. After steroid injection， full-thickness skin defects were created on the back of the rats to establish a diabetic wound with yin syndrome model. The normal group was fed with regular diet， and full-thickness skin defects were created surgically on the back of the rats. The 18 successfully modeled rats were further divided into three groups， the model group， the WSO group， and the Beifuxin （Recombinant Bovine Basic Fibroblast Growth Factor Gel， BX） group， 6 rats in each group. The WSO group was given the ointment to the wound， the Beifuxin group was givne BX gel， and the normal group and model group was disinfected and treated with saline. All groups had their dressings changed once daily for 14 days. Wound healing was recorded on days 0， 3， 7， and 14， and the wound healing rate was calculated on day 3， 7， and 14. On day 14 after treatment， HE staining was performed to observe the pathological morphology of the wound tissue. Western Blot was used to detect the relative protein levels of hypoxia-inducible factor 1 alpha （HIF-1α） and vascular endothelial growth factor （VEGF）. Immunofluorescence was used to measure the fluorescence intensity of HIF-1α in the wound tissue， and ELISA was used to detect the methylglyoxal （MGO） content in the wound tissue. ResultsCompared with the normal group， the model group showed poor wound healing on day 3， 7， and 14， with a low wound healing rate （P＜0.01）. HE staining showed scab coverage on the wound， with inflammatory cell infiltration and disorganized collagen arrangement. The relative protein levels of VEGF were significantly reduced， while the relative protein levels of HIF-1α and the MGO content significantly increased （P＜0.01）， and the fluorescence intensity of HIF-1α was enhanced. Compared to the model group， the WSO group and Beifuxin group showed better wound healing on day 3， 7， and 14， with an increased wound healing rate （P＜0.01）. The wound tissue showed clear and complete epithelial structure， reduced inflammatory cells， mature granulation tissue， and organized collagen arrangement. MGO content was significantly reduced （P＜0.01）. The relative protein levels of HIF-1α and VEGF both significantly increased in the WSO group， while only VEGF increased in the Beifuxin group （P＜0.05 or P＜0.01）. Compared with the Beifuxin group， the WSO group had a thicker epidermal layer， prominent collagen formation， significantly increased HIF-1α fluorescence expression， reduced MGO content in the wound tissue， and higher relative protein levels of HIF-1α （P＜0.05）. ConclusionWSO can reduce the accumulation of MGO in diabetic wound tissue with yin syndrome and activate the HIF-1α/VEGF pathway， which could be one of the mechanisms for promoting wound healing.

Objective:To analyze suicide methods and demographic characteristics of attempted suicide pa-tients in Baise City,Guangxi and to provide the basis for suicide intervention.Methods:A retrospective analysis method was conducted on the case data of attempted suicide patients treated in the emergency departments of 14 general hospitals in Baise City from 2018 to 2021.The situation of attempted suicide patients was recorded using the suicide patient information collection forms.Results:Among the 2 529 attempted suicide patients,1 636 committed-suicide by taking pesticides,557 used therapeutic drugs,112 used rodenticides,and 53 used carbonmonoxide(CO).The proportion of male and farmer suicides by taking pesticides was higher,and the proportion of female and non-farmer suicides by taking therapeutic drugs was higher.Multivariate analysis showed that the proportion of patients aged 45-60 years old patients who took pesticide was higher(OR=3.18),while the proportion of patients aged 45～60 who took therapeutic drugs was lower(OR=0.19).The proportion of suicides taking pesticides and using carbon monoxide significantly decreased in 2020(OR=0.56)and 2021(OR=0.52),while the proportion of sui-cides taking therapeutic drugs significantly increased in 2020(OR=2.04)and 2021(OR=3.18).Conclusion:Proportion of attempted suicide by taking pesticides is the most common method of suicide among residents in Baise City,with males,farmers,and middle-aged groups being the most affected.The proportion of attempted suicide by taking medication has significantly increased,with a higher incidence among women.

Objective To investigate the correlation between serum ferritin(SF)and 25-hydroxyvitamin D[25-(OH)D]and cervical vascular plaque and cardiac metabolism index(CMI)in elderly patients with nonal-coholic fatty liver disease(NAFLD).Methods 128 elderly patients with NAFLD in the hospital were selected as study group,and 80 healthy subjects with physical examination were included in control group.The levels of SF and 25-(OH)D were compared between study group and control group and among patients with different lesion degrees.According to the presence or absence of formation of carotid artery plaque,the patients were classified into plaque group(n=36)and non-plaque group(n=92),and the clinical data,SF,25-(OH)D and CMI were compared.The multiple factors affecting the cervical vascular plaque formation in elderly patients with NAFLD and the correlation of SF and 25-(OH)D levels with cervical vascular plaque and CMI were analyzed.Results Serum SF in study group was significantly higher than that in control group(P<0.05)while 25-(OH)D level was signifi-cantly lower than that in control group(P<0.05).SF level was manifested as fatty liver groupsteatohepatitis group>liver cirrhosis group(P<0.05).The BMI,diabetes mellitus,hyperlipidemia,serum ALT,AST,LDL-C,SF,FPG,FINS,HOMA-IR,CMI and NFS in plaque group were significantly higher than those in non-plaque group(P<0.05)while serum 25-(OH)D level was significantly lower than that in non-plaque group(P<0.05).Multi-variate Logistic regression analysis showed that increased BMI,serum LDL-C,SF,CMI and NFS were risk factors for carotid artery plaque formation in elderly patients with NAFLD(P<0.05),and serum 25-(OH)D level was a protective factor(P<0.05).Correlation analysis showed that SF was positively correlated with carotid artery plaque and CMI in NAFLD patients(P<0.05),and serum 25-(OH)D level was negatively correlated with carotid artery plaque and CMI(P<0.05).Conclusion Serum SF and 25-(OH)D are related to the progression of NAFLD,and may affect the cervical vascular plaque formation and cardiac metabolism.Serum SF and 25-(OH)D can be used as observation indicators for the diagnosis and treatment of vascular lesions in patients with NAFLD.

Tubal ciliary movement is one of the essential transport mechanisms for female fertility, playing a key role in facilitating oocyte pickup and transporting the fertilized ovum. This movement is mediated by multiciliated cells and regulated by specific proteins and hormones that modulate ciliary number, length, polarity, beat frequency, and amplitude to ensure proper function. Genetic mutations, inflammatory stimuli, and hormonal fluctuations can impair ciliary activity or induce ciliary apoptosis, leading to ciliary dysfunction. Disorders of tubal ciliary movement are frequently observed in primary ciliary dyskinesia, pelvic inflammatory disease, polycystic ovary syndrome, and endometriosis, conditions commonly associated with female infertility. These disorders manifest as structural abnormalities of cilia, disrupted polarity, shortened ciliary length, reduced ciliary count, and decreased beat frequency and amplitude. Understanding the role of tubal ciliary movement in female infertility-related diseases, through immunohistochemistry and ultrastructural analysis, helps clarify underlying infertility mechanisms. Identifying abnormal inflammatory factors, hormonal environments, and gene expression, combined with advanced techniques for measuring ciliary protein and beat frequency, may offer novel clinical targets for early prevention and treatment of female infertility.
Humans ; Female ; Infertility, Female/etiology* ; Cilia/physiology* ; Polycystic Ovary Syndrome/physiopathology* ; Fallopian Tubes/physiopathology* ; Endometriosis/complications* ; Pelvic Inflammatory Disease/complications*

Objective To differentiate acute aortic dissection(AAD)from acute myocardial infarction(AMI)using commonly used blood biomarkers and develop and validate a diagnostic model.Methods A total of 350 chest pain patients presenting to Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,from January to December,were selected,including 200 AAD patients and 150 AMI patients.The patients were randomly divided into training and validation set in a 4∶3 ratio.Nineteen blood biomarker values were collected from all patients,and the least a bsolute shrinkage and selection operator(LASSO)regression model was applied to the training set to identify the optimal predictors for constructing a differential diagnostic model between AAD and AMI.The diagnostic efficacy of the model was assessed using receiver operating characteristic(ROC)curves.Results Compared with the AMI group,patients in the AAD group exhibited significantly higher levels of monocyte count(MONO),neutrophil count(NEU),high-sensitivity C-reactive protein(hs-CRP),high-density lipoprotein(HDL),prothrombin time(PT)and D-dimer(D-D)(U=17 160～26 593,all P<0.05),whereas levels of lymphocyte count(LYM),triacylglycerol(TG),activated partial thromboplastin time(APTT),thrombin time(TT),fibrinogen(FIB),high-sensitivity cardiac troponin I(hs-cTnI),N-terminal pro-brain natriuretic peptide(NT-proBNP),aspartate aminotransferase(AST)and creatine kinase(CK)were significantly lower(U=8 943～13 063,all P<0.05).LASSO regression analysis identified D-D,hs-cTnI,NEU,LYM,hs-CRP and APTT as optimal predictors in the training set(U=2 433～8 657,all P<0.05).The constructed diagnostic model was as follows:Y=0.101(D-D)+0.065(NEU)+0.003(hs-CRP)-0.200(LYM)-0.004(APTT)-0.000 046 6(hs-cTnI)-0.006,with an optimal cutoffvalue of 0.093.The AUC(95%CI)was 0.937(0.90～0.97,P<0.01)in the training set,0.90(0.85～0.95,P<0.05)in the validation set,and 0.925(0.90～0.95,P<0.01)in the overall dataset,with a diagnostic sensitivity of 87.9%and specificity of 92.3%.Conclusion The diagnostic model based on D-D,hs-cTnI,NEU,LYM,hs-CRP,and APTT provides a valuable reference for the differential diagnosis of AAD and AMI.

Objective To systematically evaluate and integrate qualitative studies on perception of exercise behaviors in community-dwelling older adults with frailty,and to provide references for clinical development of targeted exercise intervention strategies.Methods A systematic search of PubMed,Medline,Embase,PsycINFO,the Cochrane Library,SinoMed,Wanfang Database,CNKI,and VIP Database for qualitative studies on perception of exercise behaviors in older adults with frailty in the community was conducted from the inception of the databases to June 2024.Literature quality was evaluated using the Australian Joanna Briggs Institute Centre for Evidence-Based Health Care Quality Assessment Criteria for Qualitative Research(2016 edition),and Meta-synthesis was performed using the theme synthesis method.Results A total of 10 papers were included,grouped into 10 categories and integrated into the 3 domains of the capability,opportunity,and motivation-behavior model(COM-B model),i.e.Preparation for exercise behavior is influenced by capability factors(physical reserve,knowledge reserve,psychological preparation);stage-specific motivational evolution promotes the internalization of exercise behavior(guiding,focusing,stimulating,and maintaining);external conditions provide opportunities for exercise behavior(individual interaction,community environment,and social support).Conclusion Perceptions of exercise behavior among community-dwelling older adults with frailty or are complex and influenced by a variety of factors.Future exercise intervention strategies should consider modifiable factors,enhance knowledge education,stimulate intrinsic motivation,and solidify external conditions,while also accommodating individual differences and preferences,so as to promote exercise participation and health enhancement in this group.

Gastric cancer (GC) is characterized by high morbidity and mortality rates. Chinese agarwood comprises the resin-containing wood of Aquilaria sinensis (Lour.) Gilg., traditionally utilized for treating asthma, cardiac ischemia, and tumors. However, comprehensive research regarding its anti-GC effects and underlying mechanisms remains limited. In this study, Chinese agarwood petroleum ether extract (CAPEE) demonstrated potent cytotoxicity against human GC cells, with half maximal inhibitory concentration (IC₅₀) values for AGS, HGC27, and MGC803 cells of 2.89, 2.46, and 2.37 μg·mL^-1, respectively, at 48 h. CAPEE significantly induced apoptosis in these GC cells, with B-cell lymphoma-2 (BCL-2) associated X protein (BAX)/BCL-2 antagonist killer 1 (BAK) likely mediating CAPEE-induced apoptosis. Furthermore, CAPEE induced G₀/G₁ phase cell cycle arrest in human GC cells via activation of the deoxyribonucleic acid (DNA) damage-p21-cyclin D1/cyclin-dependent kinase 4 (CDK4) signaling axis, and increased Fe²⁺, lipid peroxides and reactive oxygen species (ROS) levels, thereby inducing ferroptosis. Ribonucleic acid (RNA) sequencing, real-time quantitative polymerase chain reaction (RT-qPCR), and Western blotting analyses revealed CAPEE-mediated upregulation of heme oxygenase-1 (HO-1) in human GC cells. RNA interference studies demonstrated that HO-1 knockdown reduced CAPEE sensitivity and inhibited CAPEE-induced ferroptosis in human GC cells. Additionally, CAPEE administration exhibited robust in vivo anti-GC activity without significant toxicity in nude mice while inhibiting tumor cell growth and promoting apoptosis in tumor tissues. These findings indicate that CAPEE suppresses human GC cell growth through upregulation of the DNA damage-p21-cyclin D1/CDK4 signaling axis and HO-1-mediated ferroptosis, suggesting its potential as a candidate drug for GC treatment.
Animals ; Humans ; Mice ; Antineoplastic Agents, Phytogenic ; Apoptosis/drug effects* ; Cell Line, Tumor ; Cyclin D1/genetics* ; Cyclin-Dependent Kinase 4/genetics* ; DNA Damage/drug effects* ; Drugs, Chinese Herbal/pharmacology* ; Ferroptosis/drug effects* ; G1 Phase Cell Cycle Checkpoints/drug effects* ; Heme Oxygenase-1/genetics* ; Mice, Inbred BALB C ; Mice, Nude ; Plant Extracts/pharmacology* ; Stomach Neoplasms/physiopathology* ; Thymelaeaceae/chemistry* ; Up-Regulation/drug effects*

Objective To explore the efficacy of a compound nutrition preparation on wound healing after acute trauma and investigate the underlying mechanism primarily.Methods After skin wound model was successfully constructed on totally 60 male SD rats surgically,they were randomly divided into control group(CON group),whey protein group(WP group)and low-and high-dose nutritional formula groups(LDF and HDF groups),with 15 animals in per group.From the next day after surgery,the rats in each group were given corresponding nutritional interventions for 2 weeks.During the intervention,the wound conditions were observed and recorded,and the wound area was measured.The samples were collected on the 3rd,7th and 14th days after surgery,respectively.Serum albumin(ALB),prealbumin(PA),total protein(TP),inflammatory factors(TNF-α,IL-1β,IL-6 and IL-10),immunoglobulins(IgA,IgG and IgM)and hydroxyproline(Hyp)were detected by the corresponding reagent kits.The histopathologic changes of wound were observed with HE staining.Masson staining was used to observe the collagen fiber deposition in wound tissue.The angiogenesis of wound tissue was evaluated by immunohistochemical staining.Results Compared with the CON group,the wound healing speed,collagen synthesis and angiogenesis speed were significantly accelerated in the WP group,LDF group and HDF group(P＜0.05),and the effects were the most obvious in the HDF group.On the 3rd day after surgery,in the WP,LDF and HDF groups,the serum ALB,PA and TP levels were significantly increased(P＜0.05),serum TNF-α and IL-1β levels were obviously decreased(P＜0.05),and serum IL-10 level was notably increased(except WP group)when compared with the CON group.The serum IgG and IgM levels were significantly increased in the LDF group and HDF group(P＜0.05)and significant increment of IgA was only observed in the HDF group(P＜0.05).On the 7th day after modeling,the levels of ALB,PA and TP were significantly increased(P＜0.05),the levels of TNF-α,IL-1β and IL-6 were obviously decreased(P＜0.05),and the levels of IL-10 were remarkably increased(P＜0.05)in the HDF group than the CON group;The LDF group and HDF group had significantly elevated serum IgG and IgM levels(P＜0.05),but only the former group had statistically increased serum IgA level(P＜0.05).On the 14th day after modeling,the HDF group had significantly increased levels of ALB and TP(P＜0.05),decreased levels of IL-1β(P＜0.05),and raised levels of IgG and IgM when compared with the CON group(P＜0.05).Conclusion Our compound nutrition preparation promotes wound healing in rat model of acute trauma,which might be related to its improving the nutritional status,promoting collagen synthesis,and thus alleviating inflammatory response and enhancing immune function.