Over the past 40 years,prenatal ultrasound in China has undergone a transformative evolution,from basic grayscale imaging to the integration of artificial intelligence(AI).Initial efforts focused on identifying major fetal anomalies and establishing standardized screening systems.In subsequent decades,advances such as 3D/4D imaging,quantitative diagnostic models and multimodal approaches enhanced the accuracy and scope of assessments.Recently,the emergence of AI-driven diagnostics,early trimester screening and multi-omics integration have ushered Chinese prenatal ultrasound into an era of precision and intelligence.Chinese scholars have not only adopted global innovations,but also contributed original,locally adapted solutions and multidisciplinary frameworks.Looking ahead,future development will emphasize intelligent assistance,equitable access,evidence-based systems,and cross-disciplinary integration-driving continued improvement in birth defect prevention and maternal-fetal health.

This study aimed to comprehensively examine the association of gallstones, cholecystectomy, and cancer risk. Multivariable logistic regressions were performed to estimate the observational associations of gallstones and cholecystectomy with cancer risk, using data from a nationwide cohort involving 239 799 participants. General and gender-specific two-sample Mendelian randomization (MR) analysis was further conducted to assess the causalities of the observed associations. Observationally, a history of gallstones without cholecystectomy was associated with a high risk of stomach cancer (adjusted odds ratio (aOR)=2.54, 95% confidence interval (CI) 1.50-4.28), liver and bile duct cancer (aOR=2.46, 95% CI 1.17-5.16), kidney cancer (aOR=2.04, 95% CI 1.05-3.94), and bladder cancer (aOR=2.23, 95% CI 1.01-5.13) in the general population, as well as cervical cancer (aOR=1.69, 95% CI 1.12-2.56) in women. Moreover, cholecystectomy was associated with high odds of stomach cancer (aOR=2.41, 95% CI 1.29-4.49), colorectal cancer (aOR=1.83, 95% CI 1.18-2.85), and cancer of liver and bile duct (aOR=2.58, 95% CI 1.11-6.02). MR analysis only supported the causal effect of gallstones on stomach, liver and bile duct, kidney, and bladder cancer. This study added evidence to the causal effect of gallstones on stomach, liver and bile duct, kidney, and bladder cancer, highlighting the importance of cancer screening in individuals with gallstones.
Humans ; Mendelian Randomization Analysis ; Gallstones/complications* ; Female ; Male ; Cholecystectomy/statistics & numerical data* ; Middle Aged ; Risk Factors ; Aged ; Adult ; Neoplasms/etiology* ; Stomach Neoplasms/epidemiology*

Crigler-Najjar syndrome (CNS) and Gilbert syndrome (GS; OMIM: 143500) are rare autosomal recessive diseases that cause unconjugated hyperbilirubinemia due to decreased UGT1A1 enzyme activity. Crigler-Najjar syndrome type 2 (CNS2; OMIM: 606785) increases the risk of gallbladder stone formation and cholecystitis, while GS seldom causes health issues. We found a 28-year-old male patient with recurring right upper abdomen pain who experienced persistent jaundice from birth. CNS2 with gallbladder stones and cholecystitis was diagnosed after genetic testing revealed rare double homozygous mutations A(TA)₇TAA (rs3064744) and P229Q (rs35350960) in the UGT1A1 gene. After pedigree investigation, we found that the patient's parents with modestly increased bilirubin had compound heterozygous mutations A(TA)₇TAA and P229Q, which were GS. Bioinformatics analysis showed that A(TA)₇TAA is in the TATA-box region of the gene UGT1A1 promoter, affecting gene transcriptional initiation, whereas P229Q modifies protein three-dimensional structure and may be harmful. In this pedigree, double homozygous mutations have a more severe phenotype than compound heterozygous mutations. Inherited causes of hyperbilirubinemia should be suspected after ruling out biliary obstruction, and early bilirubin reduction (< 103 µmol/L (6 mg/dL)) may reduce the risk of complications like cholecystitis in CNS2 patients, though further studies with longer follow-up are needed to confirm this observation.
Humans ; Male ; Glucuronosyltransferase/genetics* ; Adult ; Crigler-Najjar Syndrome/complications* ; Cholecystitis/etiology* ; Homozygote ; Mutation ; Pedigree

Over the past 40 years,prenatal ultrasound in China has undergone a transformative evolution,from basic grayscale imaging to the integration of artificial intelligence(AI).Initial efforts focused on identifying major fetal anomalies and establishing standardized screening systems.In subsequent decades,advances such as 3D/4D imaging,quantitative diagnostic models and multimodal approaches enhanced the accuracy and scope of assessments.Recently,the emergence of AI-driven diagnostics,early trimester screening and multi-omics integration have ushered Chinese prenatal ultrasound into an era of precision and intelligence.Chinese scholars have not only adopted global innovations,but also contributed original,locally adapted solutions and multidisciplinary frameworks.Looking ahead,future development will emphasize intelligent assistance,equitable access,evidence-based systems,and cross-disciplinary integration-driving continued improvement in birth defect prevention and maternal-fetal health.

Objective To explore the genetic characteristics of fetuses with congenital heart diseases(CHD)diagnosed by prenatal ultrasound.Methods Data of 613 singletons with prenatal ultrasonic diagnosed CHD were retrospectively analyzed.The cardiac structural abnormalities were classified into 8 types.Whole-exome sequencing(WES)was performed for 40 fetuses since chromosomal karyotyping analysis and/or chromosomal microarray analysis(CMA)showed benign copy number variations(CNV)or variants of uncertain significance(VUS).Results Among 613 fetuses,479 fetuses underwent both chromosomal karyotyping analysis and CMA,genomic abnormalities were detected in 60 fetuses(60/479,12.53％).Among 134 fetuses underwent only CMA,genomic abnormalities were found in 4 fetuses(4/134,2.99％).According to results of chromosomal karyotyping analysis and/or CMA,abnormalities were noticed in 40 fetuses(40/568,7.04％)among 568 fetuses with isolated CHD,while in 15 fetuses(15/45,33.33％)among 45 fetuses with non-isolated CHD,respectively.Abnormality detection rate of chromosomal karyotyping analysis and/or CMA in fetuses with complex CHD(10/41,24.39％)was higher than that in fetuses with non-complex CHD(54/572,9.44％).Among complex CHD fetuses,abnormality detection rate was the highest in fetuses with conotruncal defect(CTD)combined with malformation of venous system(4/13,30.77％),while among fetuses with non-complex CHD,situs inversus viscerum had the highest detection rate(1/4,25.00％).Among 40 fetuses chromosomal karyotyping analysis and/or CMA showed benign CNV or VUS,WES indicated pathogenic CNV/likely pathogenic CNV(P/LP)in 3 fetuses,VUS in 3 fetuses and benign CNV in 34 fetuses.Conclusion Fetuses with CHD,especially extracardiac malformations had possibilities of genomic abnormalities.Fetuses with CTD combined with malformation of venous system had higher possibilities of genomic abnormalities.Compared with CMA alone,chromosomal karyotyping analysis combined with CMA was helpful for detecting genomic abnormalities.

Ferroptosis is a newly discovered form of cell death that is influenced by iron levels and is triggered by cellular metabolism and excessive lipid peroxidation.Epigenetic regulation plays a crucial role in the development and progression of diseases,making it essential to understand these mechanisms in order to identify potential targets for drug development and clinical treatment.The intersection of ferroptosis and epigenetics has opened up new avenues for research in drug development,offering innovative strategies for combating diseases.Recent studies have shown that epigenetic modifications can impact pathways related to ferroptosis,potentially leading to organ dysfunction.Despite the increasing focus on this relationship,the role of epigenetic regulation in drug development remains largely unexplored.This article explores current research on the interplay between epigenetic regulation and ferroptosis,delving into their regulatory mechanisms and discussing the effects of existing epigenetic modification regula-tors on diseases.Additionally,we highlight ongoing research on epigenetic factors involved in targeting ferroptosis in cancer,providing new insights for the development of cancer treatments.

Objective:To design a new type of intelligent power-assisted hip disarticulation prosthesis and to use experiments to verify its kinematic performance.Methods:The main body of the prosthesis was designed using a double parallel four-link configuration based on a remote motion center mechanism. A series elastic actuator was used to provide external power for the prosthesis, and an antagonistic torsion spring structure was used to achieve bidirectional energy storage assistance in hip flexion and extension. A control system based on impedance control was established. By setting up an auxiliary force field to compensate for the difference between the actual angle of the prosthesis and the target angle, the prosthesis assist function was realized. Finally, the traditional hip disarticulation prosthesis was used as a comparison to test the overall performance of the new intelligent power-assisted hip disarticulation prosthesis worn by normal people.Results:For the new smart-assisted hip-disarticulation prosthesis, the goodness-of-fit of its hip joint angle curve to that of a normal person was 86%, which was 14% higher than that of the traditional hip-disarticulation prosthesis (72%). The goodness-of-fit of the healthy-side angle of the new smart-assisted hip disarticulation prosthesis to the normal human was 94%, which was the same as that of the traditional hip disarticulation prosthesis.Conclusions:A new type of intelligent power-assisted hip disarticulation prosthesis is designed to realize the function of prosthesis-assisted movement.

Objective To observe the value of prenatal ultrasound measuring fetal cauda equina nerve parameters for diagnosing tethered cord syndrome(TCS).Methods Forty six fetuses with TCS(TCS group)and 591 healthy fetuses(control group)were retrospectively enrolled.The length,area and angle of cauda equina nerve were measured with prenatal ultrasound and compared between groups,and the value for diagnosing TCS was analyzed.Results Significant differences of the length,area and angle of fetal cauda equina nerve were found between groups(all P＜0.05),with the area under the curve for diagnosing TCS of 0.924,0.809 and 0.972,respectively.Conclusion Prenatal ultrasound measuring fetal cauda equina nerve parameters had high value for diagnosing TCS.

Objective:To develop and test the intelligent model for automatically counting the number of vertebral ossification centers below the end of conus medullaris.Methods:From January 2021 to October 2022, 3 000 ultrasound images of the sacrococcygeal spinal middle sagittal plane were retrospectively selected from Shenzhen Maternal and Child Healthcare Hospital and Zhuhai People′s Hospital. The vertebral ossification center and spinal conus medullaris were artificially fine-marked in 2, 800 images for segmentation training. Yolov8 algorithm was used to build the segmentation model for segmentation training, and the fitting and automatic counting of vertebral ossification centers were carried out by post-processing. In the other 200 planes, the counting was performed by the artificial intelligence (AI) model, attending physician (D1), and junior physician (D2), and the accuracy of their performance were evaluated by a specialist physician. The accuracy and the time spent between D1, D2, and AI were compared.Results:The accuracy of AI model segmentation fitting and counting reached 95.00% (190/200) by the specialist physician evaluation, which was almost equal to 94.50%(189/200) by D1( P=0.823) and higher than that of 88.50% by D2(177/200)( P=0.012). The counting time spent for D1, D2, and AI model were 5.00 (4.25, 6.00)s, 7.00 (7.00, 8.00)s, 0.09 (0.08, 0.10)s, respectively, showing that the time spent by AI model was significantly shorter than that of doctors(all P<0.001). Conclusions:The trained artificial intelligence model can efficiently and accurately complete the vertebral ossification center counting below the end of conus medullaris, equivalent to the level of attending physicians. This study is expected to be further applied in the screening of fetal spina bifida and improve the automation and intelligence level of prenatal ultrasound screening.

Objective:To validate the morphological changes of the parieto-occipital sulcus on the transcalvarial axial plane between 20 and 32 weeks of gestation, simplify grade for assessing fetal parieto-occipital sulcus development, and confirm its clinical feasibility.Methods:This was a cross-sectional study analysis that included 550 cases of normal singleton fetuses between 20 and 32 weeks of gestation, who underwent routine ultrasound examinations at Shenzhen Maternity and Child Healthcare Hospital from September 2019 to June 2022. The morphological changes of the bilateral parieto-occipital sulci on the transcalvarial axial plane were observed. The development of the parieto-occipital sulcus was classified into 6 grades based on the developmental features of angulation, progressive closure, and curvilinear growth: straight or shallow arcuate (Grade 0), shallow and wide V-shaped (Grade 1), deep and narrow V-shaped (Grade 2), Y-shaped (Grade 3), I-shaped (Grade 4), and curvilinear (Grade 5). The gestational age at examination and pregnancy outcomes were recorded. The distribution of gestational weeks for fetuses with different grades of parieto-occipital sulci on the left and right sides was analyzed. The symmetry between bilateral parieto-occipital sulcus gradings within individuals, as well as the inter-observer and intra-observer reliability were assessed using the Weighted Kappa coefficient. The gender differences in asymmetry of parieto-occipital sulci grades between the left and right sides was analyzed. Moreover, a model for predicting the grade of the parieto-occipital sulcus based on gestational week was established.Results:Grade for the left parieto-occipital sulcus was obtained for 549 fetuses, while grade for the right was obtained for 550 fetuses. From 20 to 32 weeks of gestation, the morphology of the fetal parieto-occipital sulcus was divided into Grade 0-5, progressing from low to high with gestational development. Grade 0 showed that the sulcus was not visible or only had a slight arcuate indentation, occurring at 20-22 weeks; Grade 1 presented as a shallow and wide "V" shape with an obtuse angle at the top, appearing from 20 to 27 weeks; Grade 2 was a deep and narrow "V" shape with an acute angle at the top, appearing from 24 to 29 weeks; Grade 3 appeared as a "Y" shape with the top part partially closed and the bottom still open, occurring between 26 to 30 weeks; Grade 4 was a fully closed "I" shape, appearing at 29-32 weeks; Grade 5 presented as a curved shape, indicating the parieto-occipital sulcus was approaching maturity, appearing from 31 to 32 weeks. There was no statistically significant difference in the distribution of gestational weeks for bilateral parieto-occipital sulcus developmental grade ( P>0.05). Bilateral parieto-occipital sulcus grade could be assessed in 549 fetuses, of which 43 cases (7.83%) exhibited grade asymmetry with a one-grade difference between sides; such asymmetry showed no significant difference between male and female genders ( P=0.647). The weighted kappa coefficient analysis results indicated a strong consistency in the development of the parieto-occipital sulci on both sides within individuals, generally demonstrating symmetrical development ( P<0.001). The intra-observer and inter-observer weighted kappa coefficients were 0.92 and 0.75, respectively, with good consistency. Conclusions:Prenatal ultrasound via the transcalvarial axial plane enables a preliminary and rapid assessment of the development of bilateral parieto-occipital sulci, facilitating early evaluation of fetal cortical maturation.