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

Extensive epigenetic reprogramming involves in memory CD8+ T-cell differentiation. The elaborate epigenetic rewiring underlying the heterogeneous functional states of CD8+ T cells remains hidden. Here, we profile single-cell chromatin accessibility and map enhancer-promoter interactomes to characterize the differentiation trajectory of memory CD8+ T cells. We reveal that under distinct epigenetic regulations, the early activated CD8+ T cells divergently originated for short-lived effector and memory precursor effector cells. We also uncover a defined epigenetic rewiring leading to the conversion from effector memory to central memory cells during memory formation. Additionally, we illustrate chromatin regulatory mechanisms underlying long-lasting versus transient transcription regulation during memory differentiation. Finally, we confirm the essential roles of Sox4 and Nrf2 in developing memory precursor effector and effector memory cells, respectively, and validate cell state-specific enhancers in regulating Il7r using CRISPR-Cas9. Our data pave the way for understanding the mechanism underlying epigenetic memory formation in CD8+ T-cell differentiation.
CD8-Positive T-Lymphocytes/metabolism* ; Cell Differentiation ; Chromatin/immunology* ; Animals ; Mice ; Immunologic Memory ; Epigenesis, Genetic ; SOXC Transcription Factors/immunology* ; NF-E2-Related Factor 2/immunology* ; Mice, Inbred C57BL ; Gene Regulatory Networks ; Enhancer Elements, Genetic

Objective:To evaluate the preventive effect of an antimicrobial peptide spray on chemoradiotherapy-induced oral mu-cositis in patients with hematologic malignancies.Methods:From December 2021 to July 2023,a total of 191 newly diagnosed pa-tients with hematologic malignancies undergoing concurrent chemoradiotherapy at our hospital were included in the study.Patients were divided into a treatment group(n=124,received antimicrobial peptide spray)and a control group(n=67,received placebo spray).All patients underwent standardized chemoradiotherapy regimens and oral care.Outcomes compared between groups includ-ed the incidence and severity of oral mucositis,ulcer healing time,pain scores,antibiotic usage,inflammatory markers[C-reactive protein(CRP),procalcitonin(PCT)],duration of neutropenia,adverse events,and quality of life.Results:The incidence of oral mucositis in the treatment group was significantly lower than in the control group(12.90％vs.31.34％,P＜0.05),with a relative risk reduction(RRR)of 58.84％,absolute risk reduction(ARR)of 18.44％,and a number needed to treat(NNT)of 5.423.The treatment group showed shorter ulcer healing time,lower pain scores,reduced antibiotic usage and intensity,lower mean levels of CRP and PCT,and a shorter duration of neutropenia.The incidence of exacerbated local pain and drug-related adverse reactions was also significantly lower in the treatment group,compared to the control group(P＜0.05),with no evident systemic toxicity ob-served.Patients in the treatment group reported higher quality of life and satisfaction scores(both P＜0.05).Conclusion:The an-timicrobial peptide spray effectively reduces the incidence and severity of chemoradiotherapy-associated oral mucositis,mitigates in-flammation and infection risk,and improves quality of life.

Objective:To evaluate the preventive effect of an antimicrobial peptide spray on chemoradiotherapy-induced oral mu-cositis in patients with hematologic malignancies.Methods:From December 2021 to July 2023,a total of 191 newly diagnosed pa-tients with hematologic malignancies undergoing concurrent chemoradiotherapy at our hospital were included in the study.Patients were divided into a treatment group(n=124,received antimicrobial peptide spray)and a control group(n=67,received placebo spray).All patients underwent standardized chemoradiotherapy regimens and oral care.Outcomes compared between groups includ-ed the incidence and severity of oral mucositis,ulcer healing time,pain scores,antibiotic usage,inflammatory markers[C-reactive protein(CRP),procalcitonin(PCT)],duration of neutropenia,adverse events,and quality of life.Results:The incidence of oral mucositis in the treatment group was significantly lower than in the control group(12.90％vs.31.34％,P＜0.05),with a relative risk reduction(RRR)of 58.84％,absolute risk reduction(ARR)of 18.44％,and a number needed to treat(NNT)of 5.423.The treatment group showed shorter ulcer healing time,lower pain scores,reduced antibiotic usage and intensity,lower mean levels of CRP and PCT,and a shorter duration of neutropenia.The incidence of exacerbated local pain and drug-related adverse reactions was also significantly lower in the treatment group,compared to the control group(P＜0.05),with no evident systemic toxicity ob-served.Patients in the treatment group reported higher quality of life and satisfaction scores(both P＜0.05).Conclusion:The an-timicrobial peptide spray effectively reduces the incidence and severity of chemoradiotherapy-associated oral mucositis,mitigates in-flammation and infection risk,and improves quality of life.

China prospective multicenter birth cohort (Prospective Omics Health Atlas birth cohort, POHA birth cohort) study was officially launched in 2022. This study, in collaboration with 12 participating units, aims to establish a high-quality, multidimensional cohort comprising 20 000 naturally conceived families and assisted reproductive families. The study involves long-term follow-up of parents and offspring, with corresponding biological samples collected at key time points. Through multi-omics testing and analysis, the study aims to conduct multi-omics big data research across the entire maternal and infant life cycle. The goal is to identify new biomarkers for maternal and infant diseases and provide scientific evidence for risk prediction related to maternal diseases and neonatal health.

Objective: To explore the relationship between group risk perception, self efficacy and attitudes among college students, and its associations with individual prevention and control behaviors regarding COVID 19 pandemic. Methods: From October to November 2021, data were collected among 4 092 undergraduate students from eight colleges and universities in Anhui Province,using a multi stage stratified cluster sampling method. A t test and analysis of variance were performed for comparison between groups, while multiple linear regression was employed to investigate group risk perception, self efficacy and attitudes among college students in terms of individual COVID 19 prevention and control measures. Results: The total scores of group emotional risk perception (ARP), cognitive risk perception (CRP), distance perception (DIP) and self efficacy were (19.72±4.01)(14.56±3.64)(18.04±5.33) and (27.27±6.74), respectively. The total score of attitudes and beliefs was (26.15±4.54), while individual prevention and control behavior was (25.67±4.45). Emotional risk perception ( β=0.16 ), cognitive risk perception ( β=0.08 ), attitudes ( β=0.23 ) and self efficacy ( β=0.13 ) were positively correlated with individual prevention and control behaviors of college students( P <0.05). However, distance risk perception had no significant effect ( P >0.05). Conclusion Risk perception, self efficacy and attitude of college students are correlated with individual COVID 19 prevention and control behaviors. Therefore, colleges and universities should strengthen general self efficacy and attitude,and improve risk awareness towards COVID 19 among college students, and promote the effective prevention and control of campus epidemic.

Objective:To investigate the clinical outcomes and prognosis of children who were prenatally diagnosed with solid space-occupying abdominal lesions by ultrasound.Methods:This study retrospectively enrolled 30 children with solid space-occupying abdominal lesions that were indicated by prenatal ultrasound at Children's Hospital of Fudan University from March 2015 to March 2021. Prenatal ultrasound findings, postnatal treatment, clinical outcomes, and prognosis were analyzed.Results:These subjects included 18 male and 12 female infants, with the median gestational age at the first sonographic diagnosis of 36 weeks (28 to 39 weeks). The intra-abdominal solid masses were postnatally confirmed to be located in liver, retroperitoneum, and gastrointestinal tract, which were hepatic hemangioma ( n=14), hepatoblastoma ( n=2), neuroblastoma ( n=6), abdominal teratoma ( n=4), adrenal hematoma ( n=1), adrenocortical adenoma ( n=1), hyperplasia of renal capillary ( n=1), and gastrointestinal teratoma ( n=1). The accuracy of prenatal ultrasound in detecting the location of masses was 73% (22/30) and which was 13/16 in detecting masses from liver and 9/14 in that outside the liver. Among the 30 cases, 73% (22/30) were benign tumors, and 27% (8/30) were malignant tumors (hepatoblastoma in two cases and neuroblastoma in six cases). Among 15 patients with benign tumors (hepatic hemangioma and adrenal hematoma) who received close follow-up or drug therapy, tumor/lesion regression occurred in 13 cases and the other two were observed with stable hepatic hemangiomas. Fourteen patients, including six with neuroblastoma, two with hepatoblastoma, five with teratoma, one with adrenocortical adenoma, and one with hyperplasia of renal capillary, had good prognosis after primary tumor resection or combined with postoperative chemotherapy. One hepatoblastoma case died after withdrawing treatment. The overall survival rate was 97% (29/30) with a median follow-up time of 24 months (4 to 60 months). Conclusions:Prenatal ultrasound has high accuracy in identifying the anatomic region of fetal solid space-occupying abdominal lesions. With close postnatal follow-up and proper treatment, most of the affected fetuses will have a good outcome and prognosis.

PURPOSE: Details of patients hospitalized for asthma exacerbation in mainland China are lacking. To improve disease control and reduce economic burden, a large sample survey among this patient population is indispensable. This study aimed to investigate the clinical characteristics and outcomes of such patients.METHODS: A retrospective study was conducted on patients hospitalized for asthma exacerbation in 29 hospitals of 29 regions in mainland China during the period 2013 to 2014. Demographic features, pre-admission conditions, exacerbation details, and outcomes were summarized. Risk factors for exacerbation severity were analyzed.RESULTS: There were 3,240 asthmatic patients included in this study (57.7% females, 42.3% males). Only 28.0% used daily controller medications; 1,287 (39.7%) patients were not currently on inhaled corticosteroids. Acute upper airway infection was the most common trigger of exacerbation (42.3%). Patients with severe to life-threatening exacerbation tended to have a longer disease course, a smoking history, and had comorbidities such as hypertension, chronic obstructive pulmonary disease (COPD), and food allergy. The multivariate analysis showed that smoking history, comorbidities of hypertension, COPD, and food allergy were independent risk factors for more severe exacerbation. The number of patients hospitalized for asthma exacerbation varied with seasons, peaking in March and September. Eight patients died during the study period (mortality 0.25%).CONCLUSIONS: Despite enhanced education on asthma self-management in China during recent years, few patients were using daily controller medications before the onset of their exacerbation, indicating that more educational efforts and considerations are needed. The findings of this study may improve our understanding of hospital admission for asthma exacerbation in mainland China and provide evidence for decision-making.
Adrenal Cortex Hormones ; Asthma ; China ; Comorbidity ; Disease Progression ; Education ; Female ; Food Hypersensitivity ; Hospitalization ; Humans ; Hypertension ; Inpatients ; Medication Adherence ; Mortality ; Multivariate Analysis ; Pulmonary Disease, Chronic Obstructive ; Retrospective Studies ; Risk Factors ; Seasons ; Self Care ; Smoke ; Smoking

The technical combination of artificial intelligence (AI) and thoracic surgery is increasingly close, especially in the field of image recognition and pathology diagnosis. Additionally, robotic surgery, as a representative of high-end technology in minimally invasive surgery is flourishing. What progress has been or will be made in robotic surgery in the era of AI? This article aims to summarize the application status of AI in thoracic surgery and progress in robotic surgery, and looks ahead the future.

Several studies have evaluated the association between vitamin D receptor, matrix metalloproteinase 3 (MMP-3) polymorphisms and the risk of intervertebral disc degeneration susceptibility. The findings were inconsistent. This meta-analysis aimed to systematically assess the association between vitamin D receptor, MMP-3 polymorphisms and the risk of intervertebral disc degeneration susceptibility. A search of various databases was done covering all papers published until December 31th, 2014. Eight, 4, 3 studies were finally included that addressed the risk of intervertebral disc degeneration susceptibility and vitamin D receptor FokI (rs2228570), ApaI (rs7975232), and MMP-3 (rs731236) polymorphisms, respectively. FokI (f vs. F: summary odds ratio [OR], 1.13; 95% confidence interval [CI], 0.76–1.69; ff vs. FF: OR, 1.02; 95% CI, 0.59–1.77; ff vs. Ff/FF: OR, 1.05; 95% CI, 0.70–1.58), ApaI (a vs. A: OR, 0.73; 95% CI, 0.45–1.19; aa vs. AA: OR, 0.53; 95% CI, 0.22–1.25 p=0.14; aa vs. AA/Aa: OR, 0.69; 95% CI, 0.53–0.89) in the vitamin D receptor gene and MMP3 polymorphisms (5A vs. 6A: OR, 1.92; 95% CI, 0.77–4.80; 5A5A vs. 6A6A: OR, 2.17; 95% CI, 0.75–6.24; 5A5A vs. 5A6A/6A6A: OR, 1.58; 95% CI, 0.72–3.44) were not obviously associated with risk of intervertebral disc degeneration susceptibility. FokI, ApaI polymorphisms in the vitamin D receptor gene and MMP-3 polymorphism are not obvious risk factors for intervertebral disc degeneration susceptibility.
Intervertebral Disc Degeneration* ; Intervertebral Disc* ; Matrix Metalloproteinase 3* ; Odds Ratio ; Receptors, Calcitriol* ; Risk Factors ; Vitamin D* ; Vitamins*