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

To screen and identify a chitosanase with high stability, we cloned the chitosanase gene from Bacillus atrophaeus with a high protease yield from the barren saline-alkali soil and expressed this gene in Escherichia coli. The expressed chitosanase of B. atrophaeus (BA-CSN) was purified by nickel-affinity column chromatography. The properties including optimal temperature, optimal pH, substrate specificity, and kinetic parameters of BA-CSN were characterized. The results showed that BA-CSN had the molecular weight of 31.13 kDa, the optimal temperature of 55 ℃, the optimal pH 5.5, and good stability at temperatures below 45 ℃ and pH 4.0-9.0. BA-CSN also had good stability within 4 h of pH 3.0 and 10.0, be activated by K⁺, Na⁺, Mn²⁺, Ca²⁺, Mg²⁺, and Co²⁺, (especially by Mn²⁺), and be inhibited by Fe³⁺, Cu²⁺, and Ag⁺. BA-CSN showcased the highest relative activity in the hydrolysis of colloidal chitosan, and it had good hydrolysis ability for colloidal chitin. Under the optimal catalytic conditions, BA-CSN demonstrated the Michaelis constant K_m and maximum reaction rate V_max of 9.94 mg/mL and 26.624 μmoL/(mL·min), respectively, for colloidal chitosan. In short, BA-CSN has strong tolerance to acids and alkali, possessing broad industrial application prospects.
Bacillus/genetics* ; Hydrogen-Ion Concentration ; Escherichia coli/metabolism* ; Glycoside Hydrolases/biosynthesis* ; Substrate Specificity ; Enzyme Stability ; Chitosan/metabolism* ; Temperature ; Kinetics ; Cloning, Molecular ; Bacterial Proteins/biosynthesis* ; Recombinant Proteins/genetics*

Acute-on-chronic liver failure （ACLF） refers to severe liver dysfunction that occurs on the basis of chronic liver diseases， and it is characterized by rapid disease progression， poor prognosis， and high mortality rate. In recent years， inflammatory markers have become a research hotspot due to their significant role in assessing the prognosis of ACLF. This article reviews the advances in the application of inflammatory markers in assessing the prognosis of ACLF， such as systemic immune inflammatory index， lymphocyte-white blood cell ratio， neutrophil-lymphocyte ratio， and C-reactive protein， and discusses their clinical value and future research directions， in order to provide a theoretical basis for the early intervention and prognosis management of ACLF patients.

Objective:To investigate the association between photodynamic diagnosis(PDD)and treatment efficacy of 5-aminolevu-linic acid(ALA)photodynamic therapy(PDT)in patients with cutaneous squamous cell carcinoma in situ(cSCCis).Methods:A pro-spective cohort study was conducted among the patients with cSCCis who underwent ALA-PDT in Department of Dermatology,Huashan Hospital,Fudan University,from January 2020 to November 2024.All patients were diagnosed with cSCCis based on biopsy,and invasive squamous cell carcinoma was excluded.Clinical information was collected and PDD was performed before treatment,and the patients were divided into moderate fluorescence group and strong fluorescence groups based on fluorescence intensity.All patients received six sessions of PDT treatment at an interval of 1-2 weeks.The primary endpoint was the initial complete clearance rate at 3 months after the last treatment session,and secondary endpoints were the sustained complete clearance rate at 12 months after the last treatment session and treatment failure rate.The multivariate regression analysis,the survival curves,and the Cox regression analysis were used to investigate the association between PDD fluorescence intensity and treatment efficacy,as well as other influencing factors for treatment efficacy.Results:Compared with the strong fluorescence group,the moderate fluorescence group had significantly lower initial complete clearance rate[57.14%(8/14)vs.93.33%(28/30),odds ratio OR=0.100,P=0.010]and sustained complete clearance rate[42.86%(6/14)vs.76.67%(23/30),OR=0.230,P=0.030)].The multivariate regression analysis showed that moderate fluores-cence was an independent risk factor for initial complete clearance(OR=0.030,P=0.030).The moderate fluorescence group had a significantly higher treatment failure rate than the strong fluorescence group[57.14%(8/14)vs.23.33%(7/30),P=0.030].The survival analysis and the Cox regression analysis showed that moderate fluo-rescence was an independent risk factor for PDT treatment failure(hazard ratio=3.040,P=0.048).There were no significant differences in adverse reactions between the two groups.Conclusion:PDD fluorescence intensity can predict the efficacy of ALA-PDT in patients with cSCCis.Moderate fluorescence indicates a higher risk of treatment failure,which can help to guide clinicians in develop-ing individualized treatment strategies.

Hepatic fibrosis(HF)is an inevitable process for many chronic liver diseases to develop into liver cirrhosis and even liver cancer.More than 80%of hepatocellular carcinomas are formed after the process of chronic hepatitis,HF or liver cirrhosis.The immune microenvironment produced by inflammation and fi-brosis plays a significant role in promoting the occurrence and development of hepatocellular carcinoma.He-patic stellate cells(HSC),extracellular matrix(ECM),and fibroblasts are involved in the progression of HF by influencing innate immunity and adaptive immunity.This article,by analyzing the role of immune cells in HF,is expected to provide new intervention approaches and therapeutic targets for the clinical treatment of HF,thereby further enhancing the effectiveness of immunotherapy and offering safer and more effective treat-ment options for HF patients.

ObjectiveTo investigate the immunomodulatory effect of polysaccharides from Astragali Radix-Angelicae Sinensis Radix herb pair（Qi-gui polysaccharides） on lipopolysaccharide（LPS）-induced RAW264.7 macrophages and to characterize the structure of the active component Qi-gui homogeneous polysaccharide（AAPS-4a）， and evaluate its protective effect on ulcerative colitis（UC）. MethodsThe effects of six Qi-gui polysaccharides（0.01-100 mg·L^-1） on the proliferation of RAW264.7 cells were assessed by cell proliferation and activity assay（CCK-8）， and enzyme-linked immunosorbent assay（ELISA） was used to investigate the effects of the six polysaccharides（3， 10 mg·L^-1） on the secretion levels of tumor necrosis factor（TNF）-α， interferon（IFN）-β， and nitric oxide（NO） in LPS-induced RAW264.7 cells. After screening for active polysaccharides， high-performance size-exclusion chromatography（HPSEC） was used to determine its homogeneity and relative molecular weight， then its characteristic functional groups were identified by Fourier transform infrared spectroscopy（FT-IR）， monosaccharide composition was analyzed by high performance liquid chromatography（HPLC）， methylation analysis combined with gas chromatography-mass spectrometry（GC-MS） was performed to determine the types and linkage modes of sugar residues， and one- and two-dimensional nuclear magnetic resonance（NMR） were used to identify the sugar residue composition and configuration of the active polysaccharide. Finally， experimental animals were divided into the normal group， model group， AAPS-4a low-dose group（50 mg·kg^-1）， AAPS-4a high-dose group（100 mg·kg^-1）， and sulfasalazine（SASP） group （75 mg·kg^-1）. Except for the normal group， the acute UC mouse model was induced using 3.5% dextran sulfate sodium salt（DSS）. Each treatment group was administered the corresponding dose via oral gavage for 7 days， and changes in body weight were recorded. After treatment， the spleen index and disease activity index（DAI） score were calculated， TNF-α and interleukin-6（IL-6） levels in the serum were detected by ELISA， and histopathological changes in colon tissue were observed by hematoxylin-eosin（HE） staining. ResultsAt the cellular level， AAPS-4a exhibited a dose-dependent inhibition of LPS-induced increases in TNF-α， IFN-β， and NO levels（P<0.01）. Structural characterization of AAPS-4a revealed that it was a homogeneous polysaccharide with a relative molecular weight of 7.6×10³ Da， consisting of mannose（Man）， glucose（Glc）， and galactose（Gal） in a molar ratio of 1.3∶23.9∶1.0. It was primarily composed of five sugar residues of 1，6-α-D-Glcp， T-α-D-Glcp， 1，3-β-D-Galp， 1，4-α-D-Manp， and 1，2-α-D-Galp. In vivo experiments showed that compared with the normal group， the model group demonstrated markedly increased DAI score and spleen index， significantly reduced colon length， and significantly elevated levels of TNF-α and IL-6（P<0.01）. Compared with the model group， the AAPS-4a high-dose group significantly reduced the DAI score and spleen index， as well as TNF-α and IL-6 levels， and improved colonic atrophy（P<0.05， P<0.01）. Pathological observations showed that AAPS-4a significantly inhibited inflammatory cell infiltration in colon tissue and alleviated pathological damage. ConclusionAAPS-4a， a neutral homogeneous polysaccharide composed of 1，6-α-D-Glcp， T-α-D-Glcp， 1，3-β-D-Galp， 1，4-α-D-Manp and 1，2-α-D-Galp， is identified as a key bioactive component contributing to the anti-UC effect of the Qi-gui herb pair. Its immunoregulatory and anti-UC properties suggest its potential as a therapeutic agent for UC.

Objective:To identify the relevant factors for the first-course remission of acute myeloid leukemia (AML) and to develop a predictive model as well as assess its predictive capability.Methods:Clinical data of 749 patients newly diagnosed with AML admitted to the Department of Hematology, the First Affiliated Hospital, Zhejiang University, School of Medicine from January 1, 2019, to April 30, 2023, were collected and randomly divided into training and validation sets. Multivariate logistic regression analysis was conducted to determine variables associated with complete remission in the first course of induction therapy, and a predictive model was established based on these variables. The receiver operating characteristic (ROC) curve of the predictive model was plotted, and the area under the curve (AUC) was calculated.Results:The indicators predicting the first remission course included peripheral blood white blood cell count during onset, CBF::MYH11 fusion gene, CEBPA bZIP region mutation, myelodysplastic syndrome-related gene mutation, and induction chemotherapy regimen selection as independent factors for the first remission course. The model’s area under the training and validation curves was 0.738 (95% CI: 0.696-0.780) and 0.726 (95% CI: 0.650-0.801), respectively. The Hosmer-Lemeshow test results yielded P-values of 0.993 and 0.335, respectively. Conclusion:In this study, the developed model demonstrates a strong predictive capability for the efficacy of the first course of patients with AML, providing valuable guidance to clinicians in assessing patient prognosis and selecting appropriate treatment strategies.

Objective:To explore the impact of health education based on individualized situation, background, assessment and recommendation (SBAR) communication mode on stress response and family support in patients with coronary artery bypass transplantation (CABG).Methods:This study was a similar experimental study, and 78 surgical patients undergoing coronary artery bypass grafting in the First Affiliated Hospital of Xinjiang Medical University were selected from February to July 2023. Among them, 39 patients admitted from February to April 2023 were in the control group with routine care measures; 39 patients admitted from May to July 2023 were in the observation group. The stress response indicators: the blood glucose (Glu), buffuer excess (BE) and lacid acid (Lac) were measured in both groups when entering the operating room, start and over the cardiopulmonary bypass. Compared the stress response indicators, sleep quality, family support and postoperative complications before and after the treatment between the two groups.Results:In the control group, there were 31 males and 8 females age (57.31 ± 7.56) years old, while in the observation group, there were 33 males and 6 females age (58.36 ± 6.84) years old. Repeated-measures ANOVA showed significant Glu, BE and Lac ( Ftime=76.00, 9.69, 6.19, all P<0.05) and interaction effects ( Finteraction=3.17, 4.43, 4.35, all P<0.05). The sleep quality score and family support score in the observation group were (9.49 ± 2.61) and (10.79 ± 1.26), respectively, in the control group was (10.85 ± 2.61) and (9.38 ± 1.41) respectively, the differences were significant ( t=2.30, -4.66, both P<0.05). The incidence of postoperative complications in the observation group was 12.82% (5/39), which was significant lower than the 38.46%(15/39) in the control group ( χ2= 6.72, P<0.05). Conclusions:The health education of SBAR communication mode is beneficial to reduce the stress response of patients, improve the sleep quality of CABG patients, enhance the sense of gain of family support, and reduce the occurrence of postoperative complications, thus promoting the rehabilitation outcome of patients.

Objective:To evaluate the effects of a reduced-positioning restrictions nursing program on postoperative recovery, sleep quality, self-care ability, and hip joint function in patients undergoing total hip arthroplasty (THA), providing a reference for postoperative positioning management.Methods:A randomized controlled trial was conducted, and 140 THA patients admitted to Zhejiang Provincial People′s Hospital from January 2022 to June 2023 were selected using convenience sampling. They were divided into a control group (70 cases) and an observation group (70 cases) using a random number table. The control group received conventional rehabilitation care, while the observation group received a reduced-positioning restrictions nursing program in addition to the conventional care. The incidence of dislocation at 3 months postoperatively, the activities of daily living, the hip joint function recovery at 1 month and 3 months postoperatively, the sleep quality at 1 month postoperatively were compared between the two groups.Results:Finally 63 cases in the control group and 64 cases in the observation group completed the study. The control group included 25 males and 38 females, with an average age of (65.44 ± 10.97) years, while the observation group included 28 males and 36 females, with an average age of (65.13 ± 12.18) years. At 3 months postoperatively, there was no significant difference in the dislocation rate between the control group and the observation group ( P>0.05). At 1 month and 3 months postoperatively, the scores of activities of daily living in the observation group were (77.89 ± 6.71) and (93.52 ± 6.59) points respectively, which were higher than those in the control group [(69.68 ± 5.53) and (87.38 ± 7.72) points], the differences were statistically significant ( t=5.38, 6.96, both P<0.05), the time, interaction and inter-group effects were all statistically significant ( F=33.93, 10.81, 876.91, all P<0.05). At 1 month postoperatively, the excellent and good rate of hip joint function score grade in the observation group was 73.44% (47/64), which was higher than 41.27% (26/63) in the control group, the difference was statistically significant ( Z=-3.67, P<0.05), there was no statistically significant difference between the two groups at 3 months postoperatively ( P>0.05). At 1 month after the operation, the excellent and good rate of sleep quality score grades in the observation group was 81.25% (52/64), which was higher than 57.14% (36/63) in the control group, and the difference was statistically significant ( Z=-3.00, P<0.05). Conclusions:Incorporating a reduced-positioning restrictions nursing program into the perioperative management of THA does not increase the risk of prosthesis dislocation. This approach enhances patient comfort, improves sleep quality, increases self-care ability, and supports the recovery of hip joint function.

Objective To investigate the therapeutic effects of modified Lizhong Decoction on gastric and duodenal ulcers(GDU)of the spleen-stomach cold deficiency type,as well as its influence on gastric function and inflammatory mediators.Methods From April 2023 to May 2025,patients diagnosed with gastric dyspepsia of the spleen and stomach cold deficiency type at Nanyang First People's Hospital were randomly assigned to either the Western medicine group(n=53)or the combined therapy group(n=53).The Western medicine group received oral rabeprazole sodium enteric-coated tablets and sucralfate suspension,while the combined therapy group received the same Western medication regimen plus modified Lizhong Decoction.Both groups underwent a 6-week treatment course.Outcomes including clinical efficacy after 6 weeks,gastric mucosal morphology scores,gastric function,levels of inflammatory mediators,mucosal repair-related factors,oxidative stress markers,quality of life before and after treatment,and treatment safety were compared between the two groups.Results The total effective rate in the combined group after 6 weeks of treatment was significantly higher than that in the Western medicine group(P<0.05).After 6 weeks of treatment,both groups showed reduced mucosal thickness,inflammatory cell infiltration,glandular density scores,and decreased serum levels of cholecystokinin(CCK),motilin(MTL),gastrin(GAS),interleukin-6(IL-6),tumor necrosis factor-α(TNF-α),nuclear factor-κB(NF-κB),and malondialdehyde(MDA)compared to baseline,with greater reductions observed in the combined group(P<0.05).Additionally,serum levels of calcitonin gene-related peptide(CGRP),trefoil factor 1(TFF1),epidermal growth factor(EGF),epidermal growth factor receptor(EGFR),and superoxide dismutase(SOD),as well as quality-of-life scores across multiple domains,were significantly increased from baseline in both groups,with the combined group showing superior improvements(P<0.05).During the treatment period,the incidence of adverse reactions was 11.32%in the combined group and 5.66%in the Western medicine group,with no statistically significant difference between the two groups(P>0.05).Conclusion Modified Lizhong Decoction demonstrated a definite therapeutic effect on GDU of the spleen and stomach cold deficiency type,effectively improving gastric mucosal morphology,enhancing gastric function,suppressing inflammatory responses and oxidative stress,promoting the secretion of mucosal repair-related factors,improving patients'quality of life,and exhibiting favorable safety.