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

Background/Aims: The pathophysiology of refractory gastroesophageal reflux disease (RGERD), which differs from proton pump inhibitor dependent gastroesophageal reflux disease (DGERD), remains incompletely elucidated. This study aims to compare esophageal motility patterns, transdiaphragmatic pressure gradients (TPG), and reflux profiles between RGERD and DGERD patients, and to delineate dynamic pressure gradient-esophagogastric junction (EGJ) interactions in these patients. Methods: In this retrospective study, 274 patients who underwent 24-hour impedance-pH monitoring and high-resolution manometry, along with an assessment of proton pump inhibitor responsiveness, were classified as RGERD (32.5%), DGERD (54.4%), or non-GERD (13.1%). Clinical characteristics, TPG, esophageal motility, and reflux metrics were compared between RGERD and DGERD patients. Subgroup analysis excluding hiatal hernia (HH) was conducted to investigate the pathophysiology of RGERD. Results: The RGERD group exhibited a significantly higher proportion of chest pain compared to the DGERD group. Regarding reflux profiles, RGERD patients without HH (RGERDHH- group) experienced increased weakly acidic reflux (P < 0.001) and prolonged bolus exposure (P = 0.006) compared to their counterparts (DGERDHH- group). Mechanistically, the RGERDHH- group showed reduced lower esophageal sphincter basal pressure (P = 0.010) and EGJ contractile integral (P = 0.005). Notably, following a wet-swallow, the RGERDHH- group experienced the significant elevation in gastric pressure and TPG. Correlation analyses revealed weakly acidic reflux and bolus exposure were positively correlated with gastric pressure variation, and inversely correlated with lower esophageal sphincter basal pressure. Conclusions Transient gastric pressure elevation and compromised EGJ barrier function drive weakly acidic reflux and esophageal bolus exposure. This pressure gradient-barrier mismatch underpins the refractoriness of RGERD.

Objective:To study the spatial distribution and characteristics of iodine content in residential drinking water in Shaanxi Province, and provide a basis for scientific prevention and control of iodine deficiency disorders.Methods:From March to October 2022, an investigation was conducted in all counties (districts, referred to as counties) of Shaanxi Province, with administrative villages as survey units. For centralized water supply systems, two terminal water samples were collected, and iodine content was measured separately, with the average value representing the drinking water iodine content at that location. For decentralized water supply systems, a 10% sampling method was used to divide each administrative village into five areas (east, south, west, north, and center), with 10% of water wells sampled from each area (if fewer than 10 water wells, the well with the largest drinking population was selected; if fewer than 5 wells, all wells were sampled). One water sample was collected from each water well, and iodine content was determined using the arsenic-cerium catalytic spectrophotometry method. Spatial autocorrelation and spatial scan analysis were used to analyze the spatial distribution and characteristics of drinking water iodine content.Results:A total of 53 990 drinking water samples were collected, with a median water iodine content of 6.66 μg/L, ranging from 0.10 to 779.40 μg/L. Drinking water iodine content was detected in 112 counties, showing a significant spatial positive correlation (global autocorrelation, Moran's I = 0.74, Z = 43.83, P < 0.001). Local autocorrelation analysis showed that the difference in the distribution of iodine content in drinking water among 36 counties was statistically significant ( P < 0.05), with 22 counties showing low-low clustering and 12 counties showing high-high clustering. Spatial scanning identified three water iodine clustering areas, including two high-water iodine cluster areas and one low-water iodine cluster area. Conclusions:The distribution of iodine content in residential drinking water in Shaanxi Province shows significant spatial clustering and heterogeneity, requiring targeted interventions to achieve precise prevention and control of iodine deficiency disorders.

Objective:To investigate the correlations and regression models among adenoid-nasopharynx measurement indices (the linear ratio A/N, the two-dimensional area ratio 2D_A/N, and the three-dimensional volume ratio 3D_A/N), to evaluate the feasibility of predicting three-dimensional parameters from two-dimensional measurements.Methods:This cross-sectional study analysed 4 307 CBCT scans and lateral nasopharyngeal radiographs from 4-12-year-old children (July 2023-January 2025). Children with acute infection, major systemic disease, craniofacial anomalies, prior maxillofacial surgery, poor-quality images, or no consent were excluded. 3D_A/N was defined as adenoid volume/(adenoid+airway volume); 2D_A/N as adenoid area/total area; and linear A/N as adenoid thickness/nasopharyngeal thickness. Pearson correlation and multiple linear regression were used to quantify 2D-to-3D agreement, and independent-sample t-tests were employed to compare age, sex and seasonal subgroups. Results:(1) Significant sex-related differences in adenoid hypertrophy were detected at ages 5, 8, 9 and 11 years. In the 5-year-old group, females had significantly higher 3D_A/N and 2D_A/N values than males (3D_A/N: 0.76±0.10 vs. 0.74±0.10, t=-1.99, P=0.047; 2D_A/N: 0.66±0.10 vs. 0.64±0.09, t=-2.71, P=0.007). In the 8-year-old group, males exhibited significantly higher A/N and 3D_A/N values than females (A/N: 0.64±0.06 vs. 0.63±0.06, t=4.49, P<0.001; 3D_A/N: 0.66±0.12 vs. 0.64±0.12, t=2.00, P=0.046). In the 9-year-old group, males showed significantly higher 3D_A/N values than females (0.65±0.11 vs. 0.63±0.12, t=2.46, P=0.014). In the 11-year-old group, males had significantly higher A/N values than females (0.62±0.06 vs. 0.59±0.05, t=4.79, P<0.001). (2) The linear A/N ratio correlated moderately with 3D_A/N ( r=0.82), whereas, 2D_A/N showed an excellent correlation ( r=0.97); multiple regression confirmed 2D_A/N as the principal predictor of 3D_A/N. (3) Seasonal analysis revealed markedly greater adenoid hypertrophy in winter than in summer for children aged 4-9 years, while, no seasonal difference was found in the 10-12 year group; overall, winter hypertrophy was most pronounced in younger children. Conclusion:2D_A/N demonstrates a marked advantage in predicting 3D_A/N. When combined with A/N and age factors, it can effectively model changes in the 3D volume ratio of the adenoid, underscoring the clinical value of lateral cephalometric measurements for evaluating adenoid hypertrophy in children. Moreover, adenoid hypertrophy is influenced by age, sex and seasonal factors.

Objective To investigate iodine content in drinking water and clarify the distribution characteristics of iodine in water in Shaanxi Province.Methods A cross-sectional survey method was used to collect water samples from administrative villages in the province.Two tap water samples were taken from the centralized water supply villages,and 10％samples were taken from the decentralized water supply villages.Water iodine was detected by arsenic cerium catalytic spectrophotometry.Water iodine areas were divided according to national standards:＜40 μg/L was iodine deficiency area,40-100 μg/L was iodine adequate area,＞100 μg/L was high iodine area.According to the ecological regionification scheme of the Chinese Academy of Sciences,Shaanxi Province was divided into three types:the central and eastern Inner Mongolia Platea-Loess Plateau ecological region,the Fenwei Basin ecological region,and the Qinba Mountains ecological region.SPSS 25.0 was used for statistical analysis.Results The median of water iodine in Shaanxi Province was 6.66 μg/L.The survey of water iodine content was conducted in 22 848 administrative villages,1 309 townships,112 counties and 14 municipalities in the whole province.The median water iodine was less than 40 μg/L in 91.75％(20 963/22 848)of the administrative villages,between 40 and 100 μg/L in 7.40％(1 691/22 848)of the administrative villages,and more than 100 μg/L in 0.85％(194/22 848)of the administrative villages.The median of water iodine in the central and eastern Inner Mongolia Platea-Lose Plateau ecological zone,the Fenwei Basin ecological zone,and Qinba Mountains ecological zone was 12.35,8.88,and 2.00 μg/L,respectively,and the differences among different ecological zones were statistically significant(H=6 616.23,P＜0.001).The median of water iodine of centralized and decentralized water supply was 6.72 and 6.21 μg/L,respectively,and differences between different water supply methods were statistically significant(Z=5.638,P＜0.01).Conclusion The overall external environment of Shaanxi Province is iodine deficient,and most of the administrative villages are iodine deficient areas.There are a certain proportion of high iodine water source areas and suitable iodine areas.

Objective To evaluate the effect of Kaixin San(KXS)combined with fluoxetine on hippocampal neural stem cells in mice with chronic stress stress and depression.Methods A mouse model of depression was constructed using the method of chronic unpredictable stress stress,and the highest dose of KXS water extract and fluoxetine for clinical application was given for 28 days,and behavioral tests were carried out.Nissl staining was used to detect the pathological status of hippocampal tissues in mice.The expression of TUNEL and Nestin in mouse hippocampus was determined by immunofluorescence.Western blotting was used to detect the expressions of apoptotic proteins cleaved caspase-3 and caspase-3,pyroptosis proteins GSDMD and cleaved caspase-1,as well as the expression of neural stem cell marker Nestin in the hippocampus,and the expression of Wnt/β-catenin signaling pathway-related proteins in the hippocampus.Results The combination of KXS extract and fluoxetine can significantly improve the depression-like behavior of model mice,and the effect is better than fluoxetine alone.The combination inhibited the activation of apoptosis and pyroptosis signaling pathways in the hippocampus when used alone with high-dose fluoxetine,significantly upregulated the expression of Nestin,and regulated the expression of Wnt/β-catenin signaling pathway protein.Conclusion The combination of KXS and high-dose fluoxetine can improve apoptosis and pyroptosis in the hippocampus of stress stress and depression model mice,and upregulate the expression of neural stem cell marker Nestin by regulating the Wnt/β-catenin signaling pathway,which may be a key link to improve the antidepressant effect of the combination drug.

Objective To investigate the relationship between pre-treatment collateral circulation and long-term clinical outcomes in patients with acute vertebrobasilar artery occlusion(VBAO)undergoing endovascular treatment(EVT).Methods A retrospective analysis was conducted on 129 VBAO patients who underwent EVT.Patients were categorized into short-term(90 d)and long-term(1 year)outcome groups based on follow-up duration.Clinical data were collected,and the posterior circulation collateral score(PC-CS)based on magnetic resonance angiography(MRA)was evaluated.Inter-rater reliability of the MRA PC-CS was evaluated using Cohen's Kappa coefficient.The predictive value of MRA PC-CS for outcomes was analyzed using receiver operating characteristic(ROC)curves.Multivariate logistic regression analysis was employed to identify independent predictors of long-term outcomes.Results A total of 109 patients were included in the long-term follow-up,with 78 survivors and 31 deaths.The MRA PC-CS demonstrated high diagnostic efficacy for predicting long-term outcomes,with an area under the curve(AUC)of 0.85[95%confidence interval(CI)0.78-0.92,P＜0.000 1],with an optimal cutoff value of 5 points.Multivariate logistic regression analysis revealed that age[odds ratio(OR)1.07,95%CI 1.02-1.13,P=0.005],admission National Institutes of Health Stroke Scale(NIHSS)score(OR 1.08,95%CI 1.02-1.14,P=0.01),occipital lobe infarction(OR 3.96,95%CI 1.25-12.56,P=0.02),and MRA PC-CS≤5 points(OR 0.23,95%CI 0.06-0.84,P=0.03)were independent predictors of long-term outcomes.Conclusion The MRA PC-CS can independently predict adverse long-term functional outcomes in VBAO patients.

Aim To investigate the role of corylin in angiotensin Ⅱ(Ang Ⅱ)-induced cardiomyocyte hy-pertrophy and its underlying mechanisms.Methods An Ang Ⅱ-induced cardiomyocyte hypertrophy model was established and treated with corylin.Real-time PCR was employed to assess hypertrophic gene mRNA expression,and immunofluorescence was used to meas-ure cardiomyocyte surface area.Western blot and en-zyme activity assay kits were used to evaluate SIRT1 expression and activity.Results Corylin markedly mitigated Ang Ⅱ-induced hypertrophic gene expression and cardiomyocyte surface area enlargement.Moreo-ver,it prevented the Ang Ⅱ-mediated decline in SIRT1 protein levels and deacetylase activity.Further investi-gation indicated that corylin inhibited Ang Ⅱ-driven NF-κB transcriptional activity and the expression of its downstream target genes,such as TNF-α,IL-6,and IL-1β.Notably,SIRT1 silencing abolished the protective effects of corylin against cardiomyocyte hypertrophy,as well as its regulation of the SIRT1/NF-κB signaling pathway.Conclusion Corylin suppresses cardiomyo-cyte hypertrophy by modulating the SIRT1-dependent NF-κB signaling pathway.

Objective To investigate the distribution and antimicrobial resistance profiles of common pathogens isolated from cerebrospinal fluid(CSF)in CHINET program from 2015 to 2021.Methods The bacterial strains isolated from CSF were identified in accordance with clinical microbiology practice standards.Antimicrobial susceptibility test was conducted using Kirby-Bauer method and automated systems per the unified CHINET protocol.Results A total of 14 014 bacterial strains were isolated from CSF samples from 2015 to 2021,including the strains isolated from inpatients(95.3％)and from outpatient and emergency care patients(4.7％).Overall,19.6％of the isolates were from children and 80.4％were from adults.Gram-positive and Gram-negative bacteria accounted for 68.0％and 32.0％,respectively.Coagulase negative Staphylococcus accounted for 73.0％of the total Gram-positive bacterial isolates.The prevalence of MRSA was 38.2％in children and 45.6％in adults.The prevalence of MRCNS was 67.6％in adults and 69.5％in children.A small number of vancomycin-resistant Enterococcus faecium(2.2％)and linezolid-resistant Enterococcus faecalis(3.1％)were isolated from adult patients.The resistance rates of Escherichia coli and Klebsiella pneumoniae to ceftriaxone were 52.2％and 76.4％in children,70.5％and 63.5％in adults.The prevalence of carbapenem-resistant E.coli and K.pneumoniae(CRKP)was 1.3％and 47.7％in children,6.4％and 47.9％in adults.The prevalence of carbapenem-resistant Acinetobacter baumannii(CRAB)and Pseudomonas aeruginosa(CRPA)was 74.0％and 37.1％in children,81.7％and 39.9％in adults.Conclusions The data derived from antimicrobial resistance surveillance are crucial for clinicians to make evidence-based decisions regarding antibiotic therapy.Attention should be paid to the Gram-negative bacteria,especially CRKP and CRAB in central nervous system(CNS)infections.Ongoing antimicrobial resistance surveillance is helpful for optimizing antibiotic use in CNS infections.

Objective To investigate the antimicrobial resistance of clinical isolates from elderly patients(≥65 years)in major medical institutions across China.Methods Bacterial strains were isolated from elderly patients in 52 hospitals participating in the CHINET Antimicrobial Resistance Surveillance Program during the period from 2015 to 2021.Antimicrobial susceptibility test was carried out by disk diffusion method and automated systems according to the same CHINET protocol.The data were interpreted in accordance with the breakpoints recommended by the Clinical and Laboratory Standards Institute(CLSI)in 2021.Results A total of 514 715 nonduplicate clinical isolates were collected from elderly patients in 52 hospitals from January 1,2015 to December 31,2021.The number of isolates accounted for 34.3％of the total number of clinical isolates from all patients.Overall,21.8％of the 514 715 strains were gram-positive bacteria,and 78.2％were gram-negative bacteria.Majority(90.9％)of the strains were isolated from inpatients.About 42.9％of the strains were isolated from respiratory specimens,and 22.9％were isolated from urine.More than half(60.7％)of the strains were isolated from male patients,and 39.3％isolated from females.About 51.1％of the strains were isolated from patients aged 65-＜75 years.The prevalence of methicillin-resistant strains(MRSA)was 38.8％in 32 190 strains of Staphylococcus aureus.No vancomycin-or linezolid-resistant strains were found.The resistance rate of E.faecalis to most antibiotics was significantly lower than that of Enterococcus faecium,but a few vancomycin-resistant strains(0.2％,1.5％)and linezolid-resistant strains(3.4％,0.3％)were found in E.faecalis and E.faecium.The prevalence of penicillin-susceptible S.pneumoniae(PSSP),penicillin-intermediate S.pneumoniae(PISP),and penicillin-resistant S.pneumoniae(PRSP)was 94.3％,4.0％,and 1.7％in nonmeningitis S.pneumoniae isolates.The resistance rates of Klebsiella spp.(Klebsiella pneumoniae 93.2％)to imipenem and meropenem were 20.9％and 22.3％,respectively.Other Enterobacterales species were highly sensitive to carbapenem antibiotics.Only 1.7％-7.8％of other Enterobacterales strains were resistant to carbapenems.The resistance rates of Acinetobacter spp.(Acinetobacter baumannii 90.6％)to imipenem and meropenem were 68.4％and 70.6％respectively,while 28.5％and 24.3％of P.aeruginosa strains were resistant to imipenem and meropenem,respectively.Conclusions The number of clinical isolates from elderly patients is increasing year by year,especially in the 65-＜75 age group.Respiratory tract isolates were more prevalent in male elderly patients,and urinary tract isolates were more prevalent in female elderly patients.Klebsiella isolates were increasingly resistant to multiple antimicrobial agents,especially carbapenems.Antimicrobial resistance surveillance is helpful for accurate empirical antimicrobial therapy in elderly patients.