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

Objective: To develop a convenient, direct, and highly sensitive method for screening trace chemical additives in complex Chinese patent medicines, thereby addressing core technological bottlenecks in pharmaceutical analysis and quality control. Methods: A brush ionization probe device was independently designed and constructed, and an efficient detection method was established through systematic optimization of key parameters. Twenty-three Chinese patent medicine samples, representing 6 dosage forms (capsules, tablets, pills, granules, powders, and liquid preparations), were analyzed using 10 common chemical additives as target analytes. Results: All samples were successfully analyzed without complex pretreatment, and 5 chemical additives were detected in 7 Chinese patent medicines. The brush ionization probe device exhibited cost-effectiveness (~0.2 USD per probe), operational simplicity, rapid analysis (~10s per sample), high efficiency, and minimal reagent consumption (~10 μL per sample). Conclusion: This advancement is expected to provide an innovative scientific tool for improving the generality and convenience of on-site quality control, while promoting technological progress in disciplines such as pharmacology and traditional Chinese medicine.

ObjectiveTo prepare a recombinant PETase with a dual-catalytic-triad and to evaluate its efficiency in the biodegradation of polyethylene terephthalate （PET）. MethodsBased on the crystal structure of wild-type PETase， point mutations （T88H/L117D） were introduced via site-directed mutagenesis. The recombinant protein was prepared using prokaryotic expression and chromatography purification techniques. The enzymatic hydrolysis of the mutant PETase was assessed by relatively quantifying the products mono （2-hydroxyethyl） terephthalate （MHET） and terephthalic acid （TPA）. ResultsBoth wild-type and mutant PETases accumulated as inclusion bodies， accounting for approximately 20% of the total bacterial protein. After solubilization in urea， the proteins were eluted at 300 mmol/L imidazole during affinity chromatography purification， with concentrations of 1.824 and 1.833 mg/mL and purities of 83.11% and 84.32%， respectively. Subsequent anion-exchange chromatography yielded highly pure enzymes in the 200 mmol/L NaCl fraction： 2.776 mg/mL （96.86% purity） for the wild type and 1.967 mg/mL （95.13% purity） for the mutant. Following refolding， the final concentrations were 0.484 mg/mL for the wild type and 0.991 mg/mL for the mutant. Hydrolysis assays revealed that the mutant released MHET and TPA at （237.67±17.00）% and （197.33±12.01）% of the wild-type levels， respectively. ConclusionThe T88H/L117D dual-catalytic-triad PETase is successfully prepared and it significantly enhanced PET-degrading activity， thus， it′s a promising biocatalyst for PET bioremediation.

ObjectiveThis paper aims to observe the syndrome improvement and negative antigen conversion rate of Qingxuan Daozhi formula in the treatment of influenza in children （heat accumulation in the lung and stomach syndrome）. MethodsThrough a multi-center randomized controlled methodology design，confirmed influenza cases were collected from October 2022 to April 2023 in the pediatrics department of eight hospitals，such as Dongfang Hospital of Beijing University of Chinese Medicine. A total of 180 children with influenza and heat accumulation in the lung and stomach syndrome conforming to the standard were recruited through the clinic. The sick children meeting the inclusion criteria were randomly divided into groups by a block-randomized method. The children in the experimental group were treated with Qingxuan Daozhi formula for five days，and those in the control group were treated with Oseltamivir Phosphate Granules for five days. The primary efficacy indicator was the negative conversion rate of influenza antigen detection. Secondary efficacy indicators were the Canadian acute respiratory illness and flu scale （CARIFS） and the incidence of complications，severe cases， and critical cases. Follow-up observation was conducted on the day of enrollment，48 hours after medication，72 hours after medication， and （6+1） d after medication. ResultsOne hundred and eighty participants were randomly assigned to the experimental group （90 cases） or the control group （90 cases）. All participants were followed up during the study. Comparison of influenza antigen detection results in the primary efficacy indicators showed that the average time of negative influenza antigen conversion in the experimental group was （5.29±1.25） d，and that in the control group was （5.40±1.68） d，without a statistically significant difference. After five days of intervention，52 cases in the experimental group and 51 cases in the control group converted to negative，without a statistically significant difference. CARIFS score results in the secondary efficacy indicators showed that during 72 hours after intervention，there were statistically significant differences between the experimental group and the control group in three dimensions， including headache，muscle soreness， and the need for extra care （P<0.05）. On the （6+1） days after the intervention，the differences in both the experimental group and the control group were statistically significant in 10 dimensions， including sore throat，bad sleep，uncomfortable feeling，poor spirit and fatigue，crying more than usual，the need for extra care，symptom，function，influence on parents，and total score （P<0.05）. The comparison results within the group in the dimensional scores of symptom， function， and influence on parents，as well as the CARIFS total score showed that with the delay of follow-up time，scores of both groups decreased significantly，with a statistically significant difference （P<0.01）. Inter-group comparison results showed that the mean score of the experimental group was higher than that of the control group at the time of enrollment. With the progress of intervention，the score of the experimental group was significantly decreased compared with that of the control group. At the end of follow-up，the mean score of the experimental group was lower than that of the control group，with no statistically significant difference. In terms of the incidence of complications，severe cases， and critical cases， there were no complications，severe cases， and critical cases in the two groups，without a statistically significant difference. ConclusionThe symptom improvement effect and negative antigen conversion rate of Qingxuan Daozhi formula in the treatment of influenza in children （heat accumulation in the lung and stomach syndrome） are not inferior to Oseltamivir Phosphate granules， and children's acceptance is better. It can be more widely used in clinical treatment of influenza in children （heat accumulation in the lung and stomach syndrome）.

Objective To explore the application of plasma 7 microRNA (miR7) testing in the differential diagnosis of very early-stage hepatocellular carcinoma (HCC). Methods This study is a multicenter real-world study. Patients with single hepatic lesion (maximum diameter≤2 cm) who underwent plasma miR7 testing at Zhongshan Hospital, Fudan University, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Anhui Provincial Hospital, and Peking University People’s Hospital between January 2019 and December 2024 were retrospectively enrolled. Patients were divided into very early-stage HCC group and non-HCC group, and the clinical pathological characteristics of the two groups were compared. The value of plasma miR7 levels, alpha-fetoprotein (AFP), and des-gamma-carboxy prothrombin (DCP) in the differential diagnosis of very early-stage HCC was evaluated using receiver operating characteristic (ROC) curves and area under the curve (AUC). In patients with both negative AFP and DCP (AFP＜20 ng/mL, DCP＜40 mAU/mL), the diagnostic value of plasma miR7 for very early-stage HCC was analyzed. Results A total of 64 528 patients from 4 hospitals underwent miR7 testing, and 1 682 were finally included, of which 1 073 were diagnosed with very early-stage HCC and 609 were diagnosed with non-HCC. The positive rate of miR7 in HCC patients was significantly higher than that in non-HCC patients (67.9% vs 24.3%, P＜0.001). ROC curves showed that the AUCs for miR7, AFP, and DCP in distinguishing HCC patients from the non-HCC individuals were 0.718, 0.682, and 0.642, respectively. The sensitivities were 67.85%, 43.71%, and 44.45%, and the specificities were 75.70%, 92.78%, and 83.91%, respectively. The pairwise comparison of AUCs showed that the diagnostic efficacy of plasma miR7 detection was significantly better than that of AFP or DCP (P＜0.05). Although its specificity was slightly lower than AFP and DCP, the sensitivity was significantly higher. Among patients negative for both AFP and DCP, miR7 maintained an AUC of 0.728 for diagnosing very early-stage HCC, with 67.82% sensitivity and 77.73% specificity. Conclusions Plasma miR7 testing is a potential molecular marker with high sensitivity and specificity for the differential diagnosis of small hepatic nodules. In patients with very early-stage HCC lacking effective molecular markers (negative for both AFP and DCP), miR7 can serve as a novel and effective molecular marker to assist diagnosis.

ObjectiveTo investigate the triglyceride-glucose (TyG) index and the level of serum homocysteine (Hcy) in association with the incidence of stroke in type 2 diabetes mellitus (T2DM) patients. MethodsBased on the chronic disease risk factor surveillance cohort in Pudong New Area, Shanghai, excluding those with stroke in baseline survey, T2DM patients who joined the cohort from January 2016 to October 2020 were selected as the research subjects. During the follow-up period, a total of 318 new-onset ischemic stroke patients were selected as the case group, and a total of 318 individuals matched by gender without stroke were selected as the control group. The Cox proportional hazards regression model was used to adjust for confounding factors and explore the serum TyG index and the Hcy biochemical indicator in association with the risk of stroke. ResultsThe Cox proportional hazards regression results showed that after adjusting for confounding factors, the risk of stroke in T2DM patients with 10 μmol·L⁻¹-¹ and Hcy>15 μmol·L⁻¹ was 1.532 times (95%CI: 1.017‒2.309 times, P=0.041) and 1.738 times (95%CI: 1.119‒2.699 times, P=0.014) higher respectively, compared to T2DM patients with Hcy≤10 μmol·L⁻¹. T2DM patients with TyG>9.074 had 1.396 times higher risk of stroke (95%CI: 1.091‒1.787, P=0.008) compared to those with TyG≤9.074. The study found that urea and α1-antitrypsin (α1-AT) were independent risk factors for the incidence of stroke in T2DM patients. For every unit increase in urea andα1-AT, the risk of stroke in T2DM patients increased by 233.6% (HR=3.336, 95%CI: 1.588‒7.009, P=0.001) and 11.3% (HR=1.113, 95%CI: 1.028‒1.205, P=0.008), respectively. Cumulative risk curves showed that Hcy>10 μmol·L⁻¹ and TyG>9.074 accelerated the time to stroke occurrence in T2DM patients. ConclusionElevated levels of Hcy>10 μmol·L⁻¹ and a higher TyG index are risk factors for stroke in T2DM patients. Effective interventions for Hcy and TyG should be conducted for diabetic patients to reduce the incidence of stroke.

ObjectiveTo explore the medication patterns of Professor Zhang Farong in treating type 2 diabetes mellitus （T2DM） and the clinical efficacy of his core prescription. MethodsClinical case records of T2DM treated by Professor Zhang Farong were collected to establish a prescription database. Frequency statistics， visual analysis， and factor analysis were employed to investigate the characteristics and principle of the prescriptions， and a core prescription was derived. A randomized controlled trial was conducted， enrolling 60 T2DM patients with the dampness-heat syndrome. The patients were allocated into an observation group （core prescription + metformin） and a control group （metformin alone）， with both groups undergoing a 12-week treatment course. Changes in TCM symptom scores， glucose metabolism indicators ［fasting plasma glucose （FPG）， 2-hour postprandial blood glucose （2 hPG）， and glycated hemoglobin （HbA1c）］， pancreatic function indicators ［fasting C-peptide （FCP）， 2-hour postprandial C-peptide （2 hCP）， and area under the C-peptide curve （AUCcp）］， and lipid profiles were measured before and after treatment. The adverse reactions were observed and recorded. ResultsA core prescription named modified Gegen Qinlian Decoction was formulated， comprising Puerariae Lobatae Radix， Coptidis Rhizoma， Scutellariae Radix， Astragali Radix， Lycii Cortex， Mori Cortex， Jineijin Endothelium Corneum Gigeriae Galli， Rehmanniae Radix Praeparata， Atractylodis Rhizoma， Polygonati Rhizoma， and Pogostemonis Herba. The clinical trial results showed that both groups had significantly decreased FPG， 2 hPG， and HbA1c （P0.05）， and the observation group outperformed the control group in recovering the level of HbA1c （P0.05）. After treatment， both groups had declined TCM symptoms scores （P0.05）， and the declines in the observation group were larger than those in the control group （P0.05）. After treatment， the TC and LDL-C levels declined in the observation group （P 0.05）， while the lipid levels showed a decreasing trend with no statistically significant difference in the control group. After treatment， both groups showed increases in FCP and AUCcp （P0.05）， and the 2 hCP in both groups presented a recovering trend with no statistically significant difference. There was no statistically significant difference in the incidence of adverse reactions between the two groups. ConclusionModified Gegen Qinlian Decoction embodies Professor Zhang Farong's academic philosophy of treating consumptive thirst by tonifying the spleen and kidney， replenishing Qi and Yin， clearing deficiency and heat， unblocking stasis in collaterals， and addressing both deficiency and stasis. The combination of the core prescription with metformin alleviates clinical symptoms in T2DM patients with the dampness-heat syndrome， demonstrating potential effects in restoring pancreatic islet function， regulating blood glucose， and improving lipid profiles. It serves as a therapeutic option for T2DM in the patients with the dampness-heat syndrome under syndrome differentiation， meriting broader clinical application.

Objective:To explore the construction and efficacy of cranial magnetic resonance imaging(MRI)classification model based on attention mechanism in type 2 diabetes patients with cognitive impairment.Methods:The case data of 100 patients with type 2 diabetes who were treated in the General Hospital of North China Petroleum Administration Bureau from June 2022 to January 2024 were retrospectively selected.A total of 100 MRI images of cranial FLAIR_LongTR sequence with cognitive impairment(32 cases)and those without cognitive impairment(68 cases)were respectively collected.The images of the above two kinds of samples were horizontally and vertically translated to expand to 1000 samples,respectively.The samples were randomly divided into training samples(n=700)and test samples(n=300)as the ratio of 7:3 according to affine transformation data augmentation method.Then,the attention mechanism model was established to test the images with full scan of the test samples.The ability of the attention mechanism system in screening cognitive impairment was analyzed according to the method of setting threshold value.The 100 MRI images of cranial FLAIR_LongTR sequence of patients in our hospital from January 2024.From January to May 2024 were used as a verification set to verify the diagnostic value of attention mechanism.Results:With the increasing of iteration times,the sample loss of training and verification of attention mechanism model gradually decreased and tended toward stability,and the accuracy of training set and verification set gradually increased and tended toward stability.In the attention mechanism model,the average loss rate of training samples was 10.024%,and that of test samples was 15.247%.In the attention mechanism model,the average accuracy of training samples was 99.078%,and the average accuracy of test samples was 99.753%.Receiver operating characteristic(ROC)curves showed that the area under curve(AUC)of attention mechanism model was 0.998,which can better diagnose cognitive impairment of patients with type 2 diabetes than the resNET model(AUC=0.656)(Z=3.437,P<0.001).Conclusion:The constructed cranial MRI classification model by using attention mechanism has favorable diagnostic value for cognitive impairment in patients with type 2 diabetes.

Objectives:To investigate the impact of bone hyperplasia in the thoracolumbar spine caused by diffuse idiopathic skeletal hyperostosis(DISH)on the changes of spinopelvic sagittal parameters between stand-ing and sitting positions.Methods:A total of 61 DISH patients[DISH group,42 males and 19 females,50-76(65.1±6.3)years]who underwent surgical treatment for lumbar spinal stenosis in our hospital between Jan-uary 2019 and December 2023 were retrospectively analyzed.100 age-and sex-matched non-DISH patients undergone the same surgical procedure during the same period were included as control[N-DISH group,63 males and 37 females,54-77(67.5±7.2)years].According to the distribution of osteophytes,the patients in the DISH group with ectopic ossification limited to the thoracic spine were categorized into the T-DISH group,while those with involvement of both thoracic and lumbar spines were divided in the L-DISH group.Preoper-atively,full-spine anteroposterior and lateral X-rays were taken in both standing and sitting positions.All patients were measured for spinopelvic sagittal parameters in standing and sitting positions,including sagittal vertical axis(SVA),pelvic tilt(PT),sacral slope(SS),pelvic incidence(PI),thoracic kyphosis(TK),lumbar lordosis(LL),and proximal femoral angle(PFA).The differences in standing and sitting positions and changes between DISH and N-DISH groups,T-DISH and L-DISH groups were compared.Results:In the standing position,the SVA(P=0.008)and TK(P=0.028)in the DISH group were significantly higher than those in the N-DISH group,while no significant differences were observed in PI,PT,SS,LL,and PFA(P＞0.05).In the sitting position,the TK(P=0.003)and LL(P=0.007)in the DISH group were significantly higher than those in the N-DISH group,whereas no significant differences were noted inSVA,PT,PI,SS,and PFA(P＞0.05).When transitioning from standing to sitting,the changes in SVA(P=0.021),PT(P=0.008),SS(P=0.001),TK(P=0.002),and LL(P＜0.001)in DISH group of patients were significantly smaller than those in N-DISH group of patients.Among DISH patients,the L-DISH group had significantly lower PI(P=0.016),SS(P=0.011),and LL(P=0.006)in the standing position compared to the T-DISH group,while no significant differences were observed in SVA,PT,TK,and PFA(P＞0.05).In the sitting position,the PI(P=0.008)and SS(P=0.007)of the L-DISH group were significantly lower than those of the T-DISH group,while no significant differences were observed in SVA,PT,TK,LL,and PFA(P＞0.05).The changes in LL when transitioning from standing to sitting were significantly lower in the L-DISH group compared to the T-DISH group(P=0.033),while the changes of other sagittal parameters showed no significant difference(P＞0.05).Conclusions:Bone hyperplasia in DISH patients significantly limits spinal mobility,and the restriction is more pronounced in patients with osteophytes extending to the lumbar spine compared to those with isolated thoracic involvement.

Objective:To observe the effect of combining transcutaneous stimulation of the auricular vagus nerve (taVNS) with modified constraint-induced movement therapy (mCIMT) on the upper limb function of hemiplegic stroke survivors.Methods:Seventy-one hemiplegic stroke survivors were randomly divided into a taVNS group of 24, an mCIMT group of 23 and a combined group of 24. In addition to conventional rehabilitation therapy, the taVNS group received taVNS therapy, the mCIMT group received mCIMT, while the combined group received both for 30 minutes a day, 5 days a week for 4 weeks. Before and after the treatment, everyone′s upper limb function was evaluated using the Fugl-Meyer upper extremity assessment (FMA-UE) and the Action Research arm test (ARAT). Ability in the activities of daily living (ADL) was quantified using the modified Barthel index (MBI). The latency and amplitude of motor evoked potentials (MEPs) were also measured.Results:After the treatment, significant improvement was observed in the average FMA-UE, ARAT and MBI scores. MEP latency and amplitude had also improved. The averages in the mCIMT group were then significantly better than among the taVNS group.Conclusions:taVNS combined with mCIMT can significantly improve the upper limb function and ADL functioning of stroke survivors with hemiplegia. It can also promote the recovery of central nervous system function.