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

With the continuous deepening of the concept of precision diagnosis and treatment for lung cancer, how to achieve higher efficiency and accuracy in the screening, diagnosis, and treatment pathways in clinical practice has become an important issue that urgently needs to be overcome. The current clinical difficulty lies in the fact that despite continuous advancements in imaging and molecular diagnostic technologies, there are still limitations in manual efficiency and subjective experience when it comes to massive data analysis and multi-scale feature extraction. Artificial intelligence (AI), especially algorithm systems based on deep learning, is an innovative technology capable of deeply empowering medical big data. This method utilizes algorithms such as convolutional neural networks, combined with radiomics, pathomics, and multi-modal data fusion analysis, demonstrating immense potential in early precise detection and benign-malignant differentiation of pulmonary nodules, digital pathological subtype recognition and non-invasive prediction of driver genes, precise 3D surgical planning and automatic delineation of radiotherapy target volumes, as well as dynamic risk warning during follow-up. This innovative technology provides a brand-new solution for realizing intelligent and individualized lung cancer diagnosis and treatment models. This consensus, based on the latest evidence from evidence-based medicine and combined with the development trends in the AI field and real-world clinical needs, was ultimately formed by gathering the consensus opinions of multidisciplinary experts in radiology, pathology, thoracic surgery, and other fields. The main content covers the application specifications of AI in the three core scenarios of lung cancer screening, diagnosis, and treatment, the technical standards for data collection and algorithm validation, as well as the ethical and regulatory challenges faced at the current stage. It aims to clarify the applicable boundaries of AI as a clinical auxiliary decision support tool, providing scientific guidance and standardized exploration directions for peers currently engaged in or planning to carry out AI-assisted clinical diagnosis, treatment, and translation of lung cancer.

Background and aims The mechanism of cholestatic liver injury (CLI) is unclear, and effective therapies are lacking. While peroxisome proliferator-activated receptor alpha (PPARα) agonists show potential hepatoprotective effect and pyroptosis is implicated in hepatocellular damage, how PPARα activation mitigates lithocholic acid (LCA)-induced pyroptosis remains unknown. Methods The hepatoprotective effect of PPARα agonists was evaluated in a mouse model of intrahepatic cholestasis induced by LCA. Liver injury was assessed via serum biochemistry, hematoxylin and eosin and TUNEL staining, and electron microscopy. Pyroptosis pathways were analyzed using real-time quantitative polymerase chain reaction, Western blot, and co-immunoprecipitation. Results Combined morphological, histopathological, and biochemical analyses confirmed that PPARα activation protects against CLI. Compared with LCA treatment alone, PPARα activation significantly attenuated the elevation of serum lactate dehydrogenase (LDH), the increased TUNEL-positive cells, and the formation of hepatocyte membrane pores. Mechanistically, PPARα activation suppressed both NOD-like receptor protein 3 (NLRP3) inflammasome-mediated pyroptosis and apoptosis protease-activating factor-1 (APAF-1)/CASPASE-3/GSDME-mediated pyroptosis. Furthermore, PPARα agonist pretreatment inhibited activation of the nuclear factor-kappa B (NF-κB) and forkhead box O1 (FOXO1) signaling pathways. Conclusions PPARα protects against LCA-induced CLI by inhibiting both NLRP3 inflammasome-mediated pyroptosis associated with NF-κB and APAF-1/CASPASE-3/GSDME-mediated pyroptosis associated with the FOXO1 signaling pathway.

Objective:To investigate the relationship between nerve growth factor (NGF) concentration in follicular fluid and abnormal menstrual cycle in infertile patients with polycystic ovary syndrome (PCOS).Methods:A retrospective cohort study was conducted on 100 infertile patients with PCOS who underwent in vitro fertilization and embryo transfer (IVF-ET) at Department of Obstetrics and Gynecology, Peking University Third Hospital from March 2017 to June 2019. For comparison, the 100 patients with PCOS were divided into low NGF group ( n=50) and high NGF group ( n=50) based on the median NGF concentration (1 644.03 ng/L) in follicular fluid. Baseline characteristics, menstrual status and clinical outcomes of assisted reproductive technology were compared. We performed multiple linear regression analysis to examine the effect of NGF in follicular fluid on menstrual cycle length for multivariate analysis. Results:1) PCOS patients in the low NGF group had significantly higher body mass index [(27.24±5.17) kg/m 2] and white blood cell count [7.31(5.99, 8.43)×10 9/L ] than those in the high NGF group [(25.03±4.46) kg/m 2, P=0.024; 5.95(5.08,7.01)×10 9/L, P=0.001], while high-density lipoprotein cholesterol [1.15 (0.98, 1.36) mmol/L] and basic follicle-stimulating hormone level [6.51 (5.10,7.95) U/L] in the low NGF group were significantly lower than those in the high NGF group [1.36 (1.09,1.52) mmol/L, P=0.039;6.51 (5.10,7.95)U/L, P=0.040]. 2) PCOS patients in the low NGF group had significantly higher menstrual cycle length [60.00 (35.00, 180.00) d] than the high NGF group [32.50 (27.00,67.50) d, P=0.001]. 3) Multiple linear regression analysis revealed that after adjustment for body mass index, age, infertility duration, infertility type, and glucose and lipid metabolic parameters, the NGF concentration in the follicular fluid independently and negatively correlated with menstrual cycle length ( P<0.05). 4) The NGF concentration in follicular fluid was not correlated with assisted reproductive outcomes. Conclusion:NGF concentration in follicular fluid is closely related to the degree of menstrual cycle abnormalities in patients with PCOS.

Objective To investigate the effects of normal-high blood pressure and Grade 1 hypertension during early pregnancy on preeclampsia(PE)and adverse pregnancy outcomes in pregnant women.Methods A retrospective cohort study was conducted,enrolling 2,562 postpartum women who delivered at the Shiyan Maternal and Child Health Hospital from March 2020 to November 2023 as study participants.Prenatal examination data and delivery medical records were collected for analysis.Women were categorized into three groups based on blood pressure measurements taken before 20 weeks of gestation:normal blood pressure(n=2 029):systolic blood pressure<120 mmHg and diastolic blood pressure<80 mmHg;normal high blood pressure(n=375):systolic blood pressure 120～139 mmHg or diastolic blood pressure 80～89 mmHg;and Level 1 hypertension(n=158):systolic blood pressure 140～159 mmHg or diastolic blood pressure 90～99 mmHg.The incidence rates of PE and adverse pregnancy outcomes(including cesarean section,placental abruption,spontaneous preterm delivery[before 37 weeks],postpartum hemorrhage,stillbirth after 20 weeks of gestation,Apgar score<7,neonatal admission to the NICU,small for gestational age,macrosomia,and neonatal death within 28 days of birth)were compared and analyzed across the three groups.Cox regression analysis was performed to investigate the impact of early pregnancy blood pressure levels on the risk of PE and adverse pregnancy outcomes.Results(1)Women with normal high blood pressure had a 2.163-fold increased risk of PE compared to women with normal blood pressure(95%CI:1.228～3.809,P=0.007).However,there were no statistically significant differences in the rates of cesarean section(OR=1.341,95%CI:0.528～3.405,P=0.537),placental abruption(OR=1.016,95%CI:0.925～1.115,P=0.740),Apgar score<7(OR=1.422,95%CI:0.976～2.071,P=0.066),spontaneous preterm birth(OR=1.027,95%CI:0.925～1.140,P=0.617),postpartum bleeding(OR=1.141,95%CI:0.873～1.491,P=0.334),stillbirth after 20 weeks of gestation(OR=1.276,95%CI:0.980～1.661,P=0.070),neonatal admission to NICU(OR=1.301,95%CI:0.674～2.511,P=0.432),small for gestational age(OR=1.089,95%CI:0.927～1.279,P=0.299),macrosomia(OR=1.336,95%CI:0.824～2.166,P=0.240),or neonatal death within 28 days of birth(OR=1.275,95%CI:0.918～1.770,P=0.147).(2)Compared to women with normal blood pressure,women with grade 1 hypertension had a significantly higher risk of preeclampsia(OR=3.829,95%CI:1.749～8.385,P<0.001),cesarean section(OR=2.414,95%CI:1.298～4.489,P=0.005),and placental abruption(OR=2.537,95%CI:1.196～5.384,P=0.015).Additionally,they had a higher rate of Apgar score<7(OR=1.829,95%CI:1.069～3.130,P=0.027).No statistically significant differences were observed for spontaneous preterm birth(OR=1.404,95%CI:0.713～2.764,P=0.326),postpartum bleeding(OR=1.236,95%CI:0.845～1.807,P=0.274),stillbirth after 20 weeks of gestation(OR=1.076,95%CI:0.902～1.283,P=0.415),neonatal admission to NICU(OR=1.346,95%CI:0.873～2.075,P=0.178),small for gestational age(OR=1.417,95%CI:0.926～2.168,P=0.108),macrosomia(OR=1.235,95%CI:0.629～2.424,P=0.539),or neonatal death within 28 days of birth(OR=1.275,95%CI:0.918～1.770,P=0.147).(3)ROC analysis shows that when the sample combination was normal high blood pressure(n=375),the predictive/evaluative efficacy AUC of early pregnancy blood pressure values(threshold 139/89)for PE was 0.757.When the sample combination was level 1 hypertension(n=158),the predictive/evaluative efficacy AUC of early pregnancy blood pressure values(threshold 159/99)for four adverse outcomes,including PE,cesarean section,placental abruption,and Asperger's score<7,were 0.789,0.717,0.709,and 0.742,respectively.Conclusion Compared with pregnant and parturient women with normal blood pressure,having a normal high blood pressure or grade 1 hypertension before 20 weeks of pregnancy will significantly increase the risk of PE;in addition,grade 1 hypertension is also associated with a higher incidence of adverse pregnancy outcomes,including cesarean section,placental abruption,and low Apgar score of the newborn.

Objective:To investigate the clinical value of dynamic AI ultrasonic intelligent assisted diagnosis system for preoperative evaluation of thyroid nodules with diameter ≤1.0 cm.Methods:From Apr. 1, 2023, to Dec. 30, 2023, 742 thyroid nodules with diameter ≤1.0 cm were removed from 532 patients with thyroid nodule disease who received surgical treatment in the Department of Thyroid (hernia) of the First Medical Center of the Chinese People’s Liberation Army General Hospital. Among them, 423 were d≤0.5 cm. 319 cases (235 males and 507 females) with 0.5

Objective:To analyze the perioperative risks and prognosis in patients with differentiated thyroid cancer (DTC) complicated by Graves' disease (GD) .Methods:Clinical data of 880 DTC patients who underwent radical thyroidectomy at the Department of General Surgery, the First Medical Center of Chinese PLA General Hospital between Jan. 2016 and Dec. 2022 was retrospectively collected. The cohort included 119 DTC patients with GD (hyperthyroid group) and 761 DTC patients with normal thyroid function without GD (normal group) . Use propensity score matching (PSM) was used to obtain cohorts with balanced baseline characteristics between the hyperthyroid and normal groups. Perioperative risks and prognos were compared between the two groups.Results:For perioperative risk comparison, after 1∶2 matching, 116 patients were included in the hyperthyroid group and 232 patients in the normal group. The operation time was longer in the hyperthyroid group compared to normal group ([107.26±30.27]min vs. [96.45±32.51]min, P=0.003) . There were no statistical differences between the two groups in intraoperative blood loss, postoperative drainage volume or postoperative hospital stay ( P>0.05) . There were no statistical difference in the incidence of complications such as temporary or permanent hypoparathyroidism, temporary or permanent recurrent laryngeal nerve injury, and lymphatic leakage between the two groups. For prognostic comparison, after 1∶2 matching, 117 cases were included in the hyperthyroid group and 234 cases in the normal group. During follow-up period, 16 patients experienced DTC recurrence, including 5 cases in the hyperthyroid group and 11 cases in the normal group. There was no statistical difference in reccurence-free survival rates between the two groups (5-year RFS: 95.7% vs. 95.3%, P=0.907) . Multivariate Cox regression analysis revealed GD was not the risk factor for DTC recurrence. Conclusions:With standardized and adequate preoperative preparation, the perioperative risks of DTC patients complicated by GD were not increased compared to patients without GD. Additionally, GD does not increase the risk of postoperative tumor recurrence in DTC patients.

Objective Investigate the clinical efficacy and application value of gasless trans-subclavian approach endoscopic surgery(GTAES)for the treatment of primary hyperparathyroidism(PHPT).Methods 55 PHPT patients who underwent unilateral parathyroid adenoma resection from January 2023 to October 2024 were absorbed.Based on surgical approaches,31 patients were divided into the traditional low-collar arc incision open surgery group(open group)and 24 patients were divided into gasless trans-subclavian approach endoscopic surgery group(endoscopic group).The perioperative data,anterior neck function recovery,and incision healing were compared between two groups.Results There were no significant differences in operation time,intraoperative blood loss,postoperative drainage volume and postoperative hospital stay between the two groups(P＞0.05).The preoperative blood calcium levels of the endoscopic group and the open group were(2.68±0.10)mmol/L and(2.63±0.16)mmol/L,respectively.The blood calcium levels on the first day after surgery were(2.39±0.12)mmol/L and(2.36±0.16)mmol/L,respectively.Preoperative parathyroid hormone(PTH)was 27.55(110.05,155.75)pg/ml in endoscopic group and 137.00(107.00,210.30)pg/ml in open group,respectively.PTH on the first day after surgery was 18.98(12.64,23.53)pg/ml and 13.85(7.36,23.23)pg/ml,respectively.Blood calcium and PTH in each group 1 day after surgery decreased compared with that before surgery,and the difference was statistically significant(P＜0.05).There were no postoperative complications such as hoarseness,bleeding and incision infection in both groups.Postoperative hand and foot numbness:5 cases(20.8％)in endoscopic group and 8 patients(25.8％)in the open group,there was no significant difference between the two groups(P=0.667).There was no significant difference in the score of neck pain 3 days after surgery between the two groups(P＞0.05).The score of swallowing tension[(1.92±1.06)points compared with(2.77±1.38)points,P=0.015]and the score of anterior neck discomfort[(1.63±0.88)points compared with(2.35±1.33)points,P=0.018]in the endoscopic group one month after surgery were better than those in the open group.There was no significant difference in the score of neck scar scale between the two groups 3 months after surgery(P＞0.05).VAS score of incision satisfaction was(9.08±0.88)in endoscopic group and(8.19±1.30)in open group,and the endoscopic group was better than the open group,the difference was statistically significant(P=0.004).Conclusion For PHPT patients caused by unilateral parathyroid adenoma confirmed through preoperative localization examination,GTAES is a safe and effective surgical approach,which offers unique advantages in intraoperative lesion identification,cosmetic outcomes of the incision,and preservation of anterior neck function,providing a new surgical option for PHPT patients.

Aim To investigate the effect of curcumol(Cur)on apoptosis in senescent Hep3B cells induced by XL413.Methods XL413 induced a senescence model in Hep3B cells.Cur intervention was adminis-tered.CCK-8 and Incucyte? assays were used to eval-uate cell proliferation.Senescence-associated beta-gal-actosidase(SA-β-gal)staining was performed to assess cellular senescence.Flow cytometry was employed to detect apoptosis.RT-qPCR was conducted to measure the mRNA expression levels of senescence-associated secretory phenotype(SASP)factors IL-6,IL-8,and CXCL10.Western blot was performed to assess the ex-pression levels of p16,PI3K,p-PI3K,Akt,p-AKT,Bax,and Bcl-2.The ratios of p-PI3K/PI3K,p-Akt/Akt,and Bcl-2/Bax were calculated.Results Fol-lowing XL413 intervention,the proportion of SA-β-gal-positive cells and the expression of p16 protein signifi-cantly increased compared to the control group(P＜0.05),suggesting the successful establishment of the cell senescence model.CCK-8 assay showed that the IC50 values of Cur intervention in Hep3B cells at 24 h,48 h,and 72 h were 106.40 μmol·L-1,54.67 μmol·L-1,and 31.87 μmol·L-1,respectively.Incucy-te? cell proliferation assay demonstrated that the cell proliferation rate was significantly lower in the XL413 group compared to that in the control group(P＜0.05),and further decreased after Cur intervention(P＜0.05)in a concentration-dependent manner.The proportion of apoptotic cells in the Cur group was sig-nificantly higher than that in the XL413 group(P＜0.05),also exhibiting concentration dependence.Cur intervention led to a significant reduction in IL-6,IL-8,CXCL10 mRNA expression levels,as well as p-PI3K/PI3K and p-AKT/AKT ratios compared to the XL413 group(P＜0.05),with a concentration-de-pendent effect.The expression of Bax protein increased(P＜0.05),while Bcl-2 protein expression decreased and the Bcl-2/Bax ratio decreased(P＜0.05)in the Cur group,showing a dose-dependent effect.Conclu-sions Cur has been shown to clear XL413-induced senescent Hep3B cells,reduce their SASP expression and promote apoptosis.The underlying mechanism may be related to the inhibition of the PI3K/AKT signaling pathway.

Non-small cell lung cancer(NSCLC)constitutes the largest portion of lung cancer overall,with high incidence and mortality rates.Apoptosis,is a hot focus in the clinical treatment of NSCLC,its main pathways include the extrinsic death receptor pathway,intrinsic mitochondrial apoptosis pathway and endoplasmic reticulum stress pathway,collectively regulating the cellular apoptosis process.Traditional Chinese medicine(TCM)has significant efficacy in the treatment and prognosis of NSCLC,with advantages such as boosting the body's resistance and less adverse drug reactions.Studies have shown that various individual Chinese herbal medicines and compound formulas can treat NSCLC through the apoptosis pathway,alleviating the adverse drug reaction of radiotherapy and chemotherapy.Based on this,this article summarizes recent domestic and international literature,focusing on apoptosis,to summarize the research progress of TCM in treating NSCLC by regulating apoptosis,aiming to provide reference for clinical treatment for NSCLC.