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

Primary biliary cholangitis （PBC） is an autoimmune liver disease characterized by intrahepatic cholestasis， while fatigue is a common symptom of PBC that significantly affects the quality of life of patients. The pathogenesis of fatigue is complex and may be associated with the factors such as cholestasis-induced inflammation， gut microbiota dysbiosis， brain structural and functional abnormalities， and mitochondrial dysfunction. At present， first-line therapies and liver transplantation have a limited effect in alleviating fatigue， and there is still a lack of standardized comprehensive assessment system. Emerging drugs and non-pharmaceutical interventions， including lifestyle modifications， have shown potential application prospects. This article systematically reviews the research advances in the clinical manifestations， pathogenesis， clinical assessment， and intervention of fatigue in PBC patients， in order to provide a reference for optimizing treatment strategies and promoting the research and development of new therapies.

ObjectiveTo investigate the correlation between neutrophil-to-lymphocyte ratio （NLR）， platelet-to-lymphocyte ratio （PLR）， systemic immune-inflammation index （SII） and the severity of intrauterine adhesions （IUA）. MethodsThe retrospective study included 380 patients who underwent transcervical resection of adhesions （TCRA） from December 2019 to March 2025. Based on the American Fertility Society （AFS） classification， patients were divided into mild （n=61）， moderate （n=225）， and severe （n=94） groups. NLR， PLR， and SII were calculated from preoperative blood tests. Statistical analyses included Kruskal-Wallis test and ordinal Logistic regression. ResultsNLR， PLR， and SII were significantly higher in the severe IUA group compared to the mild group （P<0.05）， with SII showing the strongest predictive ability （OR=1.004， P=0.001）. The number of intrauterine procedures was an independent risk factor （OR=1.27/level， P=0.016）. The predictive model ［Logit（P）=-0.676+0.241×operation times+0.004×SII］ effectively identified severe IUA cases. ConclusionInflammatory markers （particularly SII） are correlated with IUA severity and may serve as non-invasive tools for clinical assessment.

ObjectiveTo evaluate the pregnancy outcomes of assisted reproductive technology （ART） in women with a history of thyroid cancer who retained fertility intentions after completing cancer treatment. MethodsA retrospective analysis was performed on 61 patients with a history of thyroid cancer who underwent in vitro fertilization/intracytoplasmic sperm microinjection and embryo transfer （IVF/ICSI-ET）. These patients were included as the case group. A total of 122 non-cancer patients who received ART during the same period were selected as the control group using 1∶2 matching based on age and oocyte retrieval time. Baseline characteristics， outcomes of the first ART cycle， and cumulative pregnancy outcomes were compared between the two groups. ResultsThere was no significant difference in the basic data， the total amount of gonadotropin （Gn） and the days of use between the case group and the control group （P>0.05）. However， the case group had significantly fewer retrieved oocytes， mature oocytes （MII）， lower fertilization and cleavage rates， and fewer transferable and high-quality embryos， as well as fewer embryos transferred during the first cycle （P < 0.05）. However， there was no significant difference in the rate of first embryo implantation and first clinical pregnancy between the two groups （P>0.05）. In the analysis of cumulative outcomes， the two groups did not show statistically significant differences in the cumulative pregnancy rate， clinical pregnancy rate per transfer cycle， the number of oocyte retrieval cycles required per live birth， the number of embryo transfer cycles required per live birth， and the number of embryos used for each live birth （P>0.05）. However， the cumulative live birth rate was significantly lower in the case group compared to the control group （P=0.005）. ConclusionAfter treatment for thyroid cancer， when ART is used to help pregnant women， the pregnancy outcome is comparable to that of women without tumors. Individualized reproductive management and timely fertility preservation strategies are recommended to optimize reproductive outcomes in this population.

ObjectiveTo observe the clinical efficacy of Anshen Buxin Gao in patients with coronary artery disease （CAD） complicated with somatization disorder after percutaneous coronary intervention （PCI）， as well as its effect on heart rate variability （HRV）. MethodsA total of 96 patients with somatization disorder after PCI were selected and randomized into control and treatment groups （48 cases）. On the basis of standardized Western medical treatment for CAD， the control group received Dailixin， while the treatment group received Dailixin combined with Anshen Buxin Gao. The somatic symptom scale （SSS）， generalized anxiety disorder 7-item scale （GAD-7）， patient health questionnaire-9 （PHQ-9）， and self-rating scale of sleep （SRSS） scores in both groups were recorded before and after treatment. The traditional Chinese medicine symptom efficacy， HRV， and incidence of adverse drug reactions were observed. ResultsA total of 90 patients completed the trial， encompassing 45 patients in the control group and 45 patients in the treatment group. Baseline characteristics between the two groups showed no statistically significant differences， indicating comparability. After treatment， both groups exhibited reductions in SSS， GAD-7， and PHQ-9 scores （P<0.05）， and the treatment group outperformed the control group in alleviating somatic symptoms and anxiety-depression symptoms （P<0.05）. The control group did not achieve a significant reduction in SRSS score， whereas the treatment group effectively lowered the SRSS score （P<0.05）. Regarding traditional Chinese medicine symptom efficacy， the total response rate in the treatment group was 91.1% （41/45）， which was higher than that （71.1%， 32/45） in the control group （Z=-2.663， P<0.05）. Both groups improved HRV in patients with somatization disorder， and the treatment group showed greater improvement （P<0.05）. There were no serious clinical adverse events during the study period. The incidence of adverse reactions in the treatment group was 6.7% （3/45）， which was lower than that （14/45， 31.10%） in the control group （χ²=7.252， P<0.05）. ConclusionThe addition of Anshen Buxin Gao to Dailixin therapy significantly alleviates the clinical symptoms and improves the sleep quality， treatment efficacy， and HRV in patients with CAD complicated with somatization disorder after PCI， while reducing the adverse effects associated with Dailixin alone. This approach demonstrates considerable clinical value and warrants further promotion.

OBJECTIVE: To explore the genetic etiology of two fetuses with Mosaic variegated aneuploidy syndrome (MVA) in a pedigree. METHODS: A 30-year-old pregnant woman, who presented at the Center for Medical Genetics and Prenatal Diagnosis of Shandong Maternal and Child Health Care Hospital on November 16, 2023, was enrolled. Clinical data of the pedigree were collected, and peripheral blood samples from the parents and amniotic fluid samples from the two fetuses were obtained for genomic DNA extraction. Whole exome sequencing (WES) was performed on both fetuses, followed by Sanger sequencing for familial validation and pathogenicity analysis of candidate variants. Chromosomal karyotyping of the parents was conducted to quantify the proportion of premature chromatid separation (PCS). This study was approved by the Medical Ethics Committee of Shandong Maternal and Child Health Care Hospital (Ethics No. 2024-034). RESULTS: Both fetuses exhibited structural brain anomalies and developmental delays during the second trimester. Amniocyte karyotyping revealed low-level mosaic aneuploidy involving multiple chromosomes, while chromosomal microarray analysis (CMA) showed no abnormalities. Pregnancy termination was performed for fetus 1. WES identified compound heterozygous variants in BUB1B, i.e., c.2363_2364del (p.S788Cfs*29) and ss804270619: G>A, in both fetuses. Sanger sequencing confirmed paternal inheritance of c.2363_2364del and maternal inheritance of ss804270619:G>A. According to the American College of Medical Genetics and Genomics (ACMG) and Clinical Genome Resource (ClinGen) Standards and Guidelines for the Interpretation of Sequence Variants, the c.2363_2364del variant was classified as likely pathogenic (PVS1 + PM2_Supporting). Parental karyotyping demonstrated PCS traits, with a higher proportion of abnormal metaphases in the father. CONCLUSION The compound heterozygous variants c.2363_2364del (p.S788Cfs*29) and ss804270619: G>A in BUB1B may constitute the genetic etiology of the two MVA fetuses in this pedigree.
Humans ; Female ; Pregnancy ; Adult ; Mosaicism ; Protein Serine-Threonine Kinases/genetics* ; Chromosome Disorders/diagnosis* ; Pedigree ; Heterozygote ; Prenatal Diagnosis ; Aneuploidy ; Male ; Fetus ; Karyotyping

Objective:To investigate the value of human epididymal protein 4(HE4)combined with two-dimensional(2D)ultrasound for vagina in diagnosing the pathological classification of ovarian cancer and predicting its prognosis.Methods:The clinical data of a total of 100 patients with ovarian cancer who admitted to Hengshui Maternal and Child Health Care Hospital and Hengshui People's Hospital from April 2018 to July 2023 were retrospectively analyzed,including 98 cases with epithelial ovarian cancer and 2 cases with non-epithelial ovarian cancer.The fasting venous blood pre operation of patients was extracted in morning.The serum HE4 level was detected by enzyme-linked immunosorbent assay(ELISA).The 2D ultrasound examination was performed one week before surgery to measure the resistance index(RI),pulse index(PI),peak systolic flow velocity(PSV)and end-diastolic flow velocity(EDV)of ovarian artery.All patients were followed up immediately after they completed the last chemotherapy.All of patients were divided into a death group(n=27)and a survival group(n=73)according to their survival situation.Cox regression risk model was used to analyze prognostic influence factors of patients with ovarian cancer.Results:The serum HE4 level[449.37(28.57,2 382.24)]pmol/L in patients with epithelial ovarian cancer was significantly higher than that[55.38(17.33,79.64)]pmol/L in patients with non-epithelial ovarian cancer(U=24.752,P＜0.05).The RI,PSV and PI of ultrasonic parameters of patients with epithelial ovarian cancer were higher than those of patients with non-epithelial ovarian cancer(t=3.640,2.152,2.588,P＜0.05),respectively.The area under curve(AUC)of the receiver operating characteristic(ROC)curve of HE4 combined with 2D ultrasound for vagina was 0.936(95%CI:0.821-1.000)in identifying epithelial and non-epithelial ovarian cancer,which was larger than that of alone each examination.The ratio of the age≥60 years old,the ratio of the III-IV staging of Federation International of Gynecology and Obstetrics(FIGO),and the ratio of existing surrounding infiltration in the death group were all higher than those in the survival group,and the serum HE4 level[528.75(34.79,1 932.43)]pmol/L was higher than that[138.23(21.49,872.59)]pmol/L of the survival group,and the difference was significant(U=25.963,P＜0.05).The PSV and EDV values of the death group were all larger than those of the survival group(t=10.844,17.744,P＜0.05),and the RI and PI were all less than those of the survival group(t=19.085,13.099,P＜0.05).FIGO Ⅲ-Ⅳ staging,surrounding infiltration,HE4 level≥398.74 pmol/L,RI＜0.31,PI＜0.54,PSV≥26.12 cm/s,EDV≥16.47 cm/s were all risk factors for the prognosis of patients with ovarian cancer(HR=2.682,2.347,2.296,2.518,2.235,2.124,1.958,P＜0.05).Conclusion:HE4 combined with 2D ultrasound for vagina can improve the diagnostic accuracy of pathological classification for ovarian cancer,and can be used as an important tool to predict the prognosis of patients with ovarian cancer.

Objective To observe the value of synthetic MRI(SyMRI)MAGnetic resonance image Compilation(MAGiC)sequence parameters for differentiating cervical squamous cell carcinoma and cervical adenocarcinoma.Methods Sixty-six patients with pathologically confirmed cervical cancer were retrospectively enrolled and divided into cervical squamous cell carcinoma group(n=56)and cervical adenocarcinoma group(n=10).Quantitative MAGiC parameters were collected and compared between groups,and those being significantly different were combined to construct a logistic regression model.The performance of each parameter alone and their combination for differentiating cervical squamous cell carcinoma and cervical adenocarcinoma was evaluated with receiver operating characteristic(ROC)curve and the area under the curve(AUC).Results In cervical adenocarcinoma group,lesions's T1 and T2 were higher,while R1 and R2 were lower than those in cervical squamous cell carcinoma group(all P＜0.05).No statistically significant difference of proton density was found between groups(P＞0.05).The AUC of T1,T2,R1,R2 alone and their combination for differentiating cervical squamous cell carcinoma and cervical adenocarcinoma was 0.959,0.945,0.961,0.942 and 0.996,respectively,and no significant difference was found between each two ones(Z=0.267 to 1.396,all P＞0.05).Conclusion SyMRI had high value for differentiating cervical squamous cell carcinoma and cervical adenocarcinoma.

Objective:To investigate the effects of a low-energy balanced diet combined with exercise intervention on glycolipid metabolism levels in children with simple obesity.Methods:A prospective randomized controlled trial was performed in this study. Forty children with simple obesity who attended the pediatric outpatient department of Tangshan Maternal and Child Health Care Hospital in Hebei Province from January 2022 to January 2024 were selected and randomly divided into two groups using a random number table: an observation group ( n=22) and a control group ( n=18). No weight-loss products were used by any children in either group. The control group received exercise intervention alone, while the observation group received a combined intervention of exercise and a low-energy balanced diet. The intervention lasted for 8 weeks for both groups. The differences in energy intake during the intervention, as well as body weight, body mass index (BMI), waist circumference, fasting blood glucose (FBG), fasting insulin (FINS), triglyceride (TG), total cholesterol (TC), and adiponectin levels before and after the intervention were compared between the two groups. Measurement data with normal distribution were expressed as Mean±SD, inter-group comparisons were performed by independent samples t-test, and within-group comparisons before and after treatment were performedby paired t-test. Counting data were expressed as case (%), and inter-group comparisons were performed by χ2 test. Results:The energy intake during the intervention was lower in the observation group than in the control group [(1 450±180) kcal/d vs. (1 780±205) kcal/d, t=-5.35, P<0.001]. Before the intervention, there were no statistically significant differences in body weight, BMI and waist circumference between the two groups (all P>0.05). After 8 weeks of intervention, body weight, BMI, and waist circumference decreased significantly compared to pre-intervention levels in both groups [Control group: (62±12) kg vs. (64±13) kg, (26.4±2.9) kg/m 2 vs. (27.9±3.4) kg/m 2, (85±7) cm vs. (91±7) cm, t=7.23, 9.07, 12.31, respectively, all P<0.001; Observation group: (59±16) kg vs. (65 ± 17) kg, (23.3±4.3) kg/m 2 vs. (28.5±4.1) kg/m 2, (82±9) cm vs. (92±10) cm, t=24.90, 17.93, 21.40, respectively, all P<0.001]. Furthermore, the post-intervention values for body weight, BMI, and waist circumference were significantly lower in the observation group than in the control group ( t=-10.89, -18.92, -5.16, respectively, all P<0.001). Before the intervention, there were no statistically significant differences in FBG, FINS, TG, TC, or adiponectin levels between the two groups (all P>0.05). After 8 weeks of intervention, FBG, FINS, TG, and TC levels decreased significantly compared to pre-intervention levels in both groups [Control group: (4.99±0.26) mmol/L vs. (5.22±0.27) mmol/L, (24±6) mU/L vs. (26±8) mU/L, (1.3±0.5) mmol/L vs. (1.5±0.4) mmol/L, (4.3±0.6) mmol/L vs. (4.5±0.6) mmol/L, t=19.75, 6.69, 7.64, 18.27, respectively, all P<0.001; Observation group: (4.64±0.34) mmol/L vs. (5.31±0.26) mmol/L, (16±5) mU/L vs. (21±10) mU/L, (1.0±0.3) mmol/L vs. (1.4±0.5) mmol/L, (4.0±0.8) mmol/L vs. (4.5±0.8) mmol/L, t=19.66, 8.82, 11.26, 22.68, respectively, all P<0.001]. Adiponectin levels increased significantly in both groups [Control group: (8.0±1.2) mg/L vs. (6.8±1.1) mg/L , t=8.38, P<0.001; Observation group: (8.8±1.1) mg/L vs. (6.8±1.2) mg/L, t=23.78, P<0.001], while the improvements in all these glycolipid metabolic parameters were significantly greater in the observation group than in the control group ( t=3.70, 2.76, 2.42, 2.22,2.14, P=0.001, 0.009, 0.020, 0.027, 0.039). Conclusion:The combined intervention of a low-energy balanced diet and exercise can reduce body weight, blood glucose, and blood lipid levels in obese children, thereby improving their glycolipid metabolism.

Objective To explore the feasibility of phase-contrast CT for three-dimensional visualization of in vitro intrahepatic vessels and necrotic foci in mouse model of acute liver injury(ALI).Methods Six clean grade male wild-type C57BL/6 mice were randomly divided into model group and control group(each n=3).The mice in model group were fed with overdose of acetaminophen to induce ALI,while those in control group were fed with the same amount of distilled water.After 24 h,the mice were all sacrificed,the livers were harvested and then fixed and dehydrated.Phase-contrast CT images of in vitro liver were acquired,sectional and three-dimensional images were reconstructed.The effect of phase-contrast CT for displaying the outline of liver and internal vessels and necrotic foci were observed,the maximum diameter and volume of necrotic foci were quantitatively analyzed,and the results of phase-contrast CT were compared with pathological findings.Results The original projection and sectional images of phase-contrast CT clearly showed the outline of in vitro liver and internal vasculatures.Necrotic foci within the liver were found in model group,but not in control group.The findings of phase-contrast CT corresponded accurately to those of pathology.Three-dimensional reconstruction images of phase-contrast CT clearly displayed intrahepatic portal vein system and hepatic vein system in both groups,and discontinuous punctate necrotic foci within the liver were found in model group,mainly distributed around hepatic vein,with a median maximum diameter of 18.50 μm and a median volume of 5 870.11 μm3,but was not observed in control group.Conclusion Phase-contrast CT could be used in three-dimensional visualization of intrahepatic vessels and necrotic foci of in vitro liver in mouse model of ALI.