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:Some studies have shown that physical exercise can effectively improve knee extensor strength and cardiorespiratory function in burn patients;some studies have also shown that physical exercise is not effective in improving respiratory function in burn patients.Improvement effects of physical exercise on physical functions(muscle function,walking function,cardiopulmonary function,and lean body mass)of burn patients were evaluated by a systematic evaluation and meta-analysis.METHODS:Based on databases including Web of Science,PubMed,Embase,Cochrane Library,CNKI,WanFang,and the Chinese Biomedical Database,literature on the improvement of physical function in burn patients through physical exercise was searched using subject headings and free terms.With muscle function,walking ability,cardiopulmonary function,and lean body mass as the primary outcome measures,a meta-analysis was conducted to compare the efficacy of physical exercise with traditional physical therapy or conventional care methods.RESULTS:A total of 38 papers were included,of which 26 papers were included in the meta-analysis,involving 1 658 patients.Meta-analysis results showed that:(1)Physical exercise significantly enhances the knee extensor strength of the dominant leg in burn patients(mean difference[MD]=8.34,95％confidence interval[CI]:6.95-9.72,P＜0.000 01),increases quadriceps strength,peak oxygen uptake,forced vital capacity and maximum ventilation volume in 1 second,and resting heart rate(standardized mean difference[SMD]=4.41,95％CI:2.52-6.30,P＜0.000 01;MD=4.91,95％CI:3.52-6.29,P＜0.000 01;MD=5.86,95％CI:0.09-11.63,P=0.05;MD=6.90,95％CI:2.93-10.87,P=0.000 7;MD=5.03,95％CI:1.45-8.61,P=0.006),and improves the 6-minute walking distance,gait parameters,and total lean body mass(MD=45.29,95％CI:24.7-65.89,P＜0.0001;SMD=7.84,95％CI:6.05-9.63,P＜0.000 01;MD=2.47,95％CI:2.01-2.93,P＜0.000 01).(2)The subgroup analysis results indicated that the improvement in knee extensor strength of the dominant leg may be better in children than in adults and better in the extra-heavy group than in the heavy group.Improvement in the 6-minute walking distance is better in children than in adults,and higher degree of burn indicates better improvement effects,with no difference from the control group for＜12 weeks.Peak oxygen uptake may be better in adults and severe burn groups than in children and moderate burn groups,resistance combined with aerobic exercise modalities may be better than aerobic exercise alone,and exercise duration＞60 minutes may be better than＜60 minutes.CONCLUSION:Physical activity is effective in improving physical function in burn patients,as evidenced by improvements in muscle strength,walking ability,cardiorespiratory fitness,and lean body mass.The quality of evidence recommended for all indicator results is moderate or below,with imprecision and inconsistency being the main factors for downgrading.Therefore,more high-quality randomized controlled trials are needed in the future to verify the reliability of the results.

OBJECTIVE:Some studies have shown that physical exercise can effectively improve knee extensor strength and cardiorespiratory function in burn patients;some studies have also shown that physical exercise is not effective in improving respiratory function in burn patients.Improvement effects of physical exercise on physical functions(muscle function,walking function,cardiopulmonary function,and lean body mass)of burn patients were evaluated by a systematic evaluation and meta-analysis.METHODS:Based on databases including Web of Science,PubMed,Embase,Cochrane Library,CNKI,WanFang,and the Chinese Biomedical Database,literature on the improvement of physical function in burn patients through physical exercise was searched using subject headings and free terms.With muscle function,walking ability,cardiopulmonary function,and lean body mass as the primary outcome measures,a meta-analysis was conducted to compare the efficacy of physical exercise with traditional physical therapy or conventional care methods.RESULTS:A total of 38 papers were included,of which 26 papers were included in the meta-analysis,involving 1 658 patients.Meta-analysis results showed that:(1)Physical exercise significantly enhances the knee extensor strength of the dominant leg in burn patients(mean difference[MD]=8.34,95％confidence interval[CI]:6.95-9.72,P＜0.000 01),increases quadriceps strength,peak oxygen uptake,forced vital capacity and maximum ventilation volume in 1 second,and resting heart rate(standardized mean difference[SMD]=4.41,95％CI:2.52-6.30,P＜0.000 01;MD=4.91,95％CI:3.52-6.29,P＜0.000 01;MD=5.86,95％CI:0.09-11.63,P=0.05;MD=6.90,95％CI:2.93-10.87,P=0.000 7;MD=5.03,95％CI:1.45-8.61,P=0.006),and improves the 6-minute walking distance,gait parameters,and total lean body mass(MD=45.29,95％CI:24.7-65.89,P＜0.0001;SMD=7.84,95％CI:6.05-9.63,P＜0.000 01;MD=2.47,95％CI:2.01-2.93,P＜0.000 01).(2)The subgroup analysis results indicated that the improvement in knee extensor strength of the dominant leg may be better in children than in adults and better in the extra-heavy group than in the heavy group.Improvement in the 6-minute walking distance is better in children than in adults,and higher degree of burn indicates better improvement effects,with no difference from the control group for＜12 weeks.Peak oxygen uptake may be better in adults and severe burn groups than in children and moderate burn groups,resistance combined with aerobic exercise modalities may be better than aerobic exercise alone,and exercise duration＞60 minutes may be better than＜60 minutes.CONCLUSION:Physical activity is effective in improving physical function in burn patients,as evidenced by improvements in muscle strength,walking ability,cardiorespiratory fitness,and lean body mass.The quality of evidence recommended for all indicator results is moderate or below,with imprecision and inconsistency being the main factors for downgrading.Therefore,more high-quality randomized controlled trials are needed in the future to verify the reliability of the results.

Objective: To explore the association between mediterranean diet (MD) patterns and dental caries among children and adolescents with neurodevelopmental disorders (NDD), so as to provide a basis for developing scientific anti caries strategies related to diet. Methods: From December 2021 to June 2024, a questionnaire survey, a three day 24 hour dietary review survey, oral health examination, physical development measurement and Childhood Autism Rating Scale (CARS) evaluation were conducted involving 147 children and adolescents aged 2-22 years with NDD from nine special education schools and rehabilitation institutions in Tianjin. Group comparisons were carried out using the Mann-Whitney U test, Chi-square test, or Fisher s exact probability method. The correlation between dietary quality and dental caries was analyzed by adopting multiple linear regression analysis and restricted cubic spline. Results: There were 46 children and adolescents (31.3%) in the non dental caries group and 101 children and adolescents (68.7%) in the dental caries group. The number of decayed missing and filled teeth (dmft) was 2.0 (4.0), and the MD score was 4.0 (2.0) points. There were 62 children and adolescents (42.2%) in the low MD scores group and 85 children and adolescents (57.8%) in the high MD scores group. There was no significant difference in MD scores between NDD children in the non dental caries group and those in the dental caries group [nondental caries group:4.0(2.0), dental caries group:4.0(2.0), Z= -0.14, P >0.05]. The MD scores and dmft exhibited increasing and then decreasing trend ( P total =0.02, P non lineary = 0.04 ). Children and adolescents with NDD in the MD high scores group had a lower number of dmft than those in the MD low scores group ( β= -2.00 , 95%CI =-3.39 to -0.62, P <0.05). However, in children and adolescents with NDD and CARS scores ≥30, the above association was insignificant ( β=-0.63, 95%CI=-0.29-0.15, P >0.05). Conclusion Children and adolescents with NDD who have dietary patterns similar to the Mediterranean diet, are found to have fewer dental caries, and this is observed among those with no or mild symptoms of autism spectrum disorder.

Objective To investigate the intervention mechanism of Bushen Zhupai Decoction on polycystic ovary syndrome rats with insulin resistance based on IL-6/PI3K/AKT signaling pathway Methods A rat model of polycystic ovary syndrome with insulin resistance was established by feeding high-fat diet combined with oral administration of letrozole,and the blank group was fed with ordinary diet.The modeled rats were randomly divided into model group,metformin group and Bushen Zhupai Decoction low-,medium-and high-dosage groups.The corresponding intervention were given for 28 days.Fasting blood glucose(FBG)content was detected,and insulin resistance index(HOMA-IR)was calculated.ELISA was used to detect serum fasting insulin(FINS),testosterone(T),estradiol(E2),luteinizing hormone(LH)and follicle stimulating hormone(FSH)contents.HE staining was used to observe the morphology of ovarian tissue.Immunohistochemistry was used to detected the expressions of interleukin(IL)-6,p-PI3K,p-AKT and GLUT4 in ovarian tissue.Western blot was used to detect the protein expressions of IL-6,PI3K,p-PI3K,AKT,p-AKT and GLUT4 in ovarian tissue,while RT-PCR was used to detect the mRNA expressions of IL-6,PI3K,AKT and GLUT4.Results Compared with the blank group,the body mass,FBG,FINS and serum T and LH contents of the model group rats significantly increased(P<0.01),while the serum E2 and FSH contents significantly decreased(P<0.01);ovarian tissue showed polycystic changes,with reduced layers and loose arrangement of granulosa cells,the expression of IL-6 protein and mRNA in ovarian tissue significantly increased(P<0.01),the expressions of p-PI3K,p-AKT and GLUT4 proteins significantly decreased(P<0.01),and the expressions of PI3K,AKT and GLUT4 mRNA significantly decreased(P<0.01).Compared with the model group,the body mass of rats in each administration group decreased,and the contents of FBG,FINS and serum T and LH decreased(P<0.01,P<0.05),while the contents of E2 and FSH increased;polycystic changes in ovarian tissue were reduced,mature follicles increased,and granulosa cells were tightly arranged,the expression of IL-6 protein and mRNA in ovarian tissue decreased,the expressions of p-PI3K,p-AKT,GLUT4 protein and PI3K,AKT,GLUT4 mRNA increased.Bushen Zhupai Decoction high-dosage group showed statistical significance(P<0.01).Conclusion Bushen Zhupai Decoction can improve reproductive and metabolic disorders in polycystic ovary syndrome with insulin resistance rats,and its mechanism may be related to inhibiting IL-6 expression,activating the PI3K/AKT signaling pathway,and alleviating insulin resistance.

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 association between healthy lifestyle and co-morbidity of overweight/obesity and myopia in adolescents.Methods:Based on the Shanghai Municipal Dynamic Cohort of Student Common Diseases, we used the group-based trajectory model (GBTM) to establish a model for the development of adolescents' healthy lifestyle trajectories aged 11-14 years and the Cox proportional hazard regression model to assess the effects of different healthy lifestyles on the co-morbidity of overweight/obesity and myopia in adolescents.Results:A total of 2 331 adolescents were included in the analysis. The average follow-up time was 1.87 years, with age of (11.44±0.45) years at the initial follow-up, among 1 106 boys and 1 225 girls. During the 2-year follow-up period, the incidence rates of overweight/obesity, myopia, and co-occurrence of overweight/obesity and myopia were 25.9%, 77.0%, and 13.7%, respectively. GBTM identified 3 healthy lifestyles: the unhealthy group (7.3%), the relatively healthy group (50.2%), and the healthy group (42.5%). The risk of overweight/obesity was lower in the relatively healthy group than in the unhealthy group ( HR=0.694, 95% CI: 0.508-0.947). There was no statistically significant association between the GBTM lifestyle subgroups and myopia ( P>0.05). The risk of co-occurrence of overweight/obesity and myopia was lower in both relatively healthy group and healthy group than in the unhealthy group (relatively healthy group: HR=0.515, 95% CI: 0.348-0.763; healthy group: HR=0.571, 95% CI: 0.384-0.849). Sensitivity analyses showed this result to be stable for myopia, overweight/obesity and myopia co-morbidities. Conclusion:Persistent unhealthy lifestyle increases the risk of overweight/obesity and myopia co-occurrence in adolescents.

Objective:To investigate the clinical characteristics of urea cycle disorder (UCD), the efficacy and safety of glyceryl phenylbutyrate (GPB) therapy in pediatric patients with UCD.Methods:This study was a retrospective, single-arm, multicenter clinical study. The clinical data of 20 pediatric patients with UCD who received GPB treatment at 9 hospitals nationwide between December 2021 and August 2024 were collected. The clinical manifestations, laboratory results, and molecular genetic characteristics were analyzed, ammonia levels and other laboratory results were evaluated pre-post GPB therapy by paired t-tests or Wilcoxon tests. Results:Among the 20 pediatric patients with UCD, there were 8 males and 12 females, and the onset age was 2.8 (1.4, 5.7) years. The ammonia levels were 174 (125, 342) μmol/L at first onset. The symptoms included vomiting in 6 cases, drowsiness in 5 cases, epilepsy in 5 cases, developmental delay in 5 cases, psychiatric and behavioral abnormalities in 3 cases, and lethargy in 1 case, and 18 cases exhibited abnormal liver function. Twenty cases included 6 UCD subtypes, with 11 cases being ornithine transcarbamylase deficiency. A total of 27 variants were identified, 11 (41%) of which were novel. The age of patients who began GPB therapy was 4.0 (1.5, 6.6) years. Ten cases stopped GPB after 4.2 (3.4, 5.3) months, with 4 patients undergoing liver transplantation and 6 discontinuing for financial reasons. The remaining ten patients continued GPB therapy for 11.6 (8.6, 14.0) months. The duration of GPB treatment was 6.0 (4.2, 12.3) months, at the final visit, the levels of ammonia, platelets and aspartate aminotransferase were lower compared to those of pre-treatment (all P<0.05). The serum albumin level was higher than that of pre-treatment ( P=0.016). Two patients suffered only one episode of acute hyperammonaemia, with ammonia levels of 232 and 141 μmol/L, respectively. Nine cases experienced adverse effects potentially related to GPB, decreased appetite in 6 cases, vomiting in 3 cases, abnormal skin oil odor in 2 cases, somnolence, fatigue and diarrhea each in 1 case, with symptoms improved within 6 (3, 10) days. Conclusions:UCD primarily manifests with neurological and gastrointestinal symptoms, and early diagnosis of UCD could be achieved through the analysis of ammonia. GPB may effectively reduce ammonia levels in UCD pediatric patients, with favorable safety and tolerability.

Objective To investigate the effects of Demodex infection on clinical symptoms,signs,and tear MMP-9 levels in patients with meibomian gland dysfunction(MGD).Methods A total of 680 patients with MGD were selected from our hospital,including 162 males and 518 females,with an average age of(45.05±15.41)years old.The patients were divided into two groups based on the presence of Demodex mite infestation:the Demodex positive group(340 cases)and the Demodex negative group(340 cases).All patients underwent evaluations using the OSDI questionnaire,SPEED questionnaire,eyelid margin alteration score,corneal fluorescein staining score,tear MMP-9 measurement,meibomian gland orifice score,meibomian gland excretion ability score,meibomian gland secretion score,meibomian gland loss score,tear film breakup time(BUT),and Schirmer I tear secretion test.The differences in these indicators between the two groups were compared.Results SPEED questionnaire score:Demodex positive group:(7.68±2.80),Demodex negative group:(6.28±1.99).There was a statistically significant difference between the two groups(t=2.582,P=0.012).Eyelid margin alteration score:Demodex positive group:(3.63±1.53),Demodex negative group:(2.85±0.77).A statistically significant difference was observed(t=2.861,P=0.006).Corneal fluorescein staining score:Demodex positive group:(2.25±1.86),Demodex negative group:(1.08±1.33).There was a statistically significant difference(t=3.247,P=0.002).Tear MMP-9 content:Demodex positive group:(30.76±43.14)ng/mL,Demodex negative group:(12.36±12.10)ng/mL.A statistically significant difference was found(t=2.598,P=0.013).No statistically significant differences were observed between the Demodex positive and negative groups in meibomian gland orifice score,meibomian gland excretion ability score,meibomian gland secretion score,meibomian gland loss score,BUT,tear secretion examination,and age comparison(P>0.05).Conclusions Demodex mite infestation in patients with MGD exhibits significant differ-ences across various clinical indicators,notably in SPEED questionnaire scores,eyelid margin alterations,corneal fluorescein staining,and tear MMP-9 levels.These changes are associated with mechanisms including inflammatory responses,cellular damage,and immune dysregulation.Demodex mite infestation may significantly influence the clinical progression of MGD by exacerbating inflammation and symptom severity,potentially playing a crucial role in disease development.

Objective To investigate the safety and effectiveness of normal saline as a hydrodissection band versus sodium hyaluronate and biopolysaccharide mixture as a modified hydrodissection band in microwave ablation (MWA) for benign thyroid nodules. Methods A total of 196 patients with 245 benign thyroid nodules(maximum diameter ≥20 mm) treated at Shanghai Ruijin Rehabilitation Hospital from August 2018 to February 2022 were enrolled. Patients were divided into control group (n=114): MWA using normal saline as the hydrodissection fluid; modified group (n=131): MWA using sodium hyaluronate and biopolysaccharide mixture as the hydrodissection fluid. A hydrodissection band (about 10 mm wide) was established before MWA. Intraoperative hydrodissection fluid absorption time was recorded. At the 12-month follow-up endpoint, complications were assessed, and changes in nodule volume (volume reduction rate, VRR) were evaluated. Results The complication rate was significantly lower in the modified group (1.9% vs.14.0%, P<0.05). 92.3% of complications in the control group were thermal injury-related, while no thermal injuries occurred in the modified group. Hydrodissection fluid absorption time was significantly prolonged in the modified group [(15.2±1.6) min vs. (11.0±2.3) min, P<0.05].No significant difference was observed in overall treatment efficacy (nodule VVR) between two groups (95.4% vs. 96.5%, P>0.05). Conclusions The sodium hyaluronate and biopolysaccharide mixture demonstrates prolonged retention time and superior thermal insulation as an hydrodissection fluid in MWA. It reduces adhesion risks and complications such as hoarseness, dysphagia, and thermal injury, thereby enhancing procedural safety and postoperative recovery. MWA is an effective treatment for benign thyroid nodules.