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 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.

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.

Objective To explore the value of nomogram model based on MR T1WI enhanced radiomics features and clinical fac-tors in predicting the prognosis of gliomas.Methods A retrospective selection was conducted on 135 patients with postoperative pathologically confirmed gliomas,who were categorized into poor prognosis group(n=59)and good prognosis group(n=76)according to survival condition at 20 months postoperatively.All patients were randomly divided into training group(n=94)and validation group(n=41)in a 7︰3 ratio.Radiomics features were extracted by 3D Slicer software,and the extracted radiomics features were downscaled by intraclass correlation coefficient(ICC),t-test,least absolute shrinkage and selection operator(LASSO)regression,and a total of 1 058 features were extracted for each patient,and 10 optimal radiomics features were obtained,to finally get the Radiomics score(Radscore).After combining clinical features and Radscore,a nomogram model was constructed.Results In the training group,Radscore was significantly higher in the poor prognosis group than that in the good prognosis group(t=8.773,P<0.05).The area under the curve(AUC)of receiver operating characteristic(ROC)curve of the training and validation groups of the radiomics model were 0.751[95%confidence interval(CI)0.654-0.849]and 0.606(95%CI 0.426-0.787),respectively.The AUC of the nomogram model were 0.899(95%CI 0.839-0.960)and 0.908(95%CI 0.823-0.994)in the training and validation groups,respectively,with much better predictive efficacy of the nomogram model.Conclusion A nomogram model based on MR T1WI enhanced radiomics features and clinical factors has good predictive efficacy in the prognosis of gliomas after surgery.

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 55239 patients who underwent HPV-DNA genotyping tests from 2018 to 2024 were collected. On the basis of HPV follow-up results, patients were divided into three groups: 849 cases of infection with the same HPV type, 255 cases of persistent infection with different HPV types, and 857 cases of transient HPV infection. Results Among the 9232 initially-screened patients who were positive with HPV, the high-risk HPV (HR-HPV) positive rate was 84.6% (7813/9232), and predominant subtypes were HPV-16 (20.8%), HPV-52 (17.2%), and HPV-53 (9.6%). The low-risk HPV (LR-HPV) positive rate was 15.4% (1419/9232), mainly HPV-81 (28.1%) and HPV-42 (27.0%). Among the 1961 follow-up cases, the rates of persistent and non-persistent infections with the same HPV type were 35.7% (701/1961) and 7.5% (148/1961), respectively. The rates of persistent and non-persistent infections with different HPV types were 10.9% (214/1961) and 2.1% (41/1961), respectively. Meanwhile, 43.7% (857/1961) tested negative upon follow-up. Among the 701 cases of persistent infection with the same HPV type, HR-HPV accounted for 85.7% (601/701), and LR-HPV accounted for 14.3% (100/701). Among the 214 cases of persistent infection with different HPV types, 89.7% (192/214) were high-risk transitions, and 10.3% (22/214) were low-risk transitions. Regardless of HPV types, HR-HPV was more likely to cause persistent infection than LR-HPV. In addition, over 60% of HR-HPV persistent infections resolved within 18 months, 30% developed into persistent infections, and only 15% of patients had persistent infections that last more than 24 months. Conclusion Persistent HPV infections are predominantly high-risk types. Most patients clear the infection within 18 months, approximately 30% develop persistent infections, and about 15% of patients have persistent infections that last more than 24 months. However, the HR-HPV persistent infection rates across different age groups slightly differ.

OBJECTIVE: This study aimed to explore the association between body mass index (BMI) and mortality based on the 10-year population-based multicenter prospective study. METHODS: A general population-based multicenter prospective study was conducted at four sites in rural China between 2013 and 2023. Multivariate Cox proportional hazards models and restricted cubic spline analyses were used to assess the association between BMI and mortality. Stratified analyses were performed based on the individual characteristics of the participants. RESULTS: Overall, 19,107 participants with a sum of 163,095 person-years were included and 1,910 participants died. The underweight (< 18.5 kg/m ²) presented an increase in all-cause mortality (adjusted hazards ratio [ aHR] = 2.00, 95% confidence interval [ CI]: 1.66-2.41), while overweight (≥ 24.0 to < 28.0 kg/m ²) and obesity (≥ 28.0 kg/m ²) presented a decrease with an aHR of 0.61 (95% CI: 0.52-0.73) and 0.51 (95% CI: 0.37-0.70), respectively. Overweight ( aHR = 0.76, 95% CI: 0.67-0.86) and mild obesity ( aHR = 0.72, 95% CI: 0.59-0.87) had a positive impact on mortality in people older than 60 years. All-cause mortality decreased rapidly until reaching a BMI of 25.7 kg/m ² ( aHR = 0.95, 95% CI: 0.92-0.98) and increased slightly above that value, indicating a U-shaped association. The beneficial impact of being overweight on mortality was robust in most subgroups and sensitivity analyses. CONCLUSION This study provides additional evidence that overweight and mild obesity may be inversely related to the risk of death in individuals older than 60 years. Therefore, it is essential to consider age differences when formulating health and weight management strategies.
Humans ; Body Mass Index ; China/epidemiology* ; Male ; Female ; Middle Aged ; Prospective Studies ; Rural Population/statistics & numerical data* ; Aged ; Follow-Up Studies ; Adult ; Mortality ; Cause of Death ; Obesity/mortality* ; Overweight/mortality*

Congenital orofacial cleft, the most common birth defect in the maxillofacial region, exhibits a wide range of prognosis depending on the severity of deformity and underlying etiology. Non-syndromic congenital orofacial clefts typically present with milder deformities and more favorable treatment outcomes, whereas syndromic congenital orofacial clefts often manifest with concomitant organ abnormalities, which pose greater challenges for treatment and result in poorer prognosis. This consensus provides an elaborate classification system for varying degrees of orofacial clefts along with corresponding diagnostic and therapeutic guidelines. Results serve as a crucial resource for families to navigate prenatal screening results or make informed decisions regarding treatment options while also contributing significantly to preventing serious birth defects within the development of population.
Humans ; Cleft Lip/diagnosis* ; Cleft Palate/diagnosis* ; Consensus ; Prenatal Diagnosis ; Female

Objective To analyze the core syndromes of patients with generalized anxiety disorder(GAD),explore the core pathogenesis,and offer innovative perspectives and practical strategies for the traditional Chinese medicine(TCM)diagnosis and treatment of GAD.Methods The basic information of GAD patients was collected,and depression symptoms were evaluated with Hamilton Anxiety Scale to evaluate anxiety symptoms,Hamilton Depression Scale,and the TCM psychiatric and somatic symptoms were evaluated with Traditional Chinese Medicine Symptom Observation Form.Based on the data collected from the Traditional Chinese Medicine symptom observation table,the systematic clustering method was used to cluster the symptoms with a frequency greater than 10％,determine the disease type syndrome and disease location syndrome,and form a syndrome symptom relationship table.According to this table,the traditional Chinese medicine syndrome score of each patient is calculated.The complex network analysis was carried out to evaluate core syndromes and analyze the relationships between core syndromes and psychiatric symptoms and core syndromes and other syndromes.Results A total of 517 patients with GAD were included.There were 81 symptoms with a frequency of more than 10％,including 21 psychological symptoms and 60 physical symptoms.The clustering analysis led to a total of 12 syndromes,including 6 pathological syndromes,namely yin deficiency,heat,phlegm dampness,qi stagnation,blood stasis,and qi deficiency,and 6 disease location syndromes,namely liver,spleen,kidney,gallbladder,stomach,and heart.The results of complex network analysis show that the core pathological syndrome of GAD is kidney,and the core pathological syndrome is yin deficiency.The joint analysis of pathological syndrome and pathological syndrome network suggests that yin deficiency is the core of the integrated network.The relationship between yin deficiency syndrome and various organs is in the order of kidney,spleen,gallbladder,liver,heart,and stomach.The syndrome element of yin deficiency has the highest correlation with being easily frightened,excessive thinking,indecisiveness,repetitive behavior,and groundless worry.The kidney syndrome has the highest correlation with the symptoms such as being easily scared,unfounded worry,repetitive actions,excessive rumination,and restlessness.Conclusion The core pathological pattern of GAD is kidney and the core pathological pattern is yin deficiency.Kidney yin deficiency may be the core pathogenesis of GAD.

Cytoglobin(Cygb)is a recently discov-ered astrocyte specific globin that is widely distrib-uted in mammalian visceral organs such as the lung,heart,spleen,liver,pancreas,stomach,small intestine,kidney,neuron,and bone tissue.It plays an important role in clearing reactive oxygen spe-cies,nitric oxide and nitrite signal transduction,al-leviating oxidative stress,anti-fibrosis,regulation of cell apoptosis and treatment of cancer,etc.It is worth noting that the anti-fibrosis role of Cygb has attracted increasing attention in recent years.The existing research has involved various fibrotic dis-eases such as the liver,pancreas,kidney,spleen,etc.,especially in the study of liver fibrosis,which has made great progress.This article system re-views the role of Cygb in various fibrotic diseases,with a focus on its mechanism of alleviating oxida-tive stress.Although the application of Cygb in fi-brotic diseases is still in its infancy and the underly-ing mechanisms still require extensive research and exploration,there is no doubt that Cygb can serve as a promising therapeutic target,with the poten-tial to be widely used in the prevention and treat-ment of fibrotic diseases.