Loss-of-function variants in CSDE1 have been strongly linked to neuropsychiatric disorders, yet the precise role of CSDE1 in neurogenesis remains elusive. In this study, we demonstrate that knockout of Csde1 during cortical development in mice results in impaired neural progenitor proliferation, leading to abnormal cortical lamination and embryonic lethality. Transcriptomic analysis revealed that Csde1 upregulates the transcription of genes involved in the cell cycle network. Applying a dual thymidine-labelling approach, we further revealed prolonged cell cycle durations of neuronal progenitors in Csde1-knockout mice, with a notable extension of the G1 phase. Intersection with CLIP-seq data demonstrated that Csde1 binds to the 3' untranslated region (UTR) of mRNA transcripts encoding cell cycle genes. Particularly, we uncovered that Csde1 directly binds to the 3' UTR of mRNA transcripts encoding Cdk6, a pivotal gene in regulating the transition from the G1 to S phases of the cell cycle, thereby maintaining its stability. Collectively, this study elucidates Csde1 as a novel regulator of Cdk6, sheds new light on its critical roles in orchestrating brain development, and underscores how mutations in Csde1 may contribute to the pathogenesis of neuropsychiatric disorders.
Animals ; Neurogenesis/genetics* ; Cell Cycle/genetics* ; Mice, Knockout ; Mice ; Neural Stem Cells/metabolism* ; DNA-Binding Proteins/metabolism* ; Cyclin-Dependent Kinase 6/genetics* ; Cell Proliferation ; 3' Untranslated Regions ; Cerebral Cortex/embryology* ; RNA-Binding Proteins ; Mice, Inbred C57BL

Animal disease models are important biological tools for basic medical research.Establishing an ideal animal model is a critical prerequisite for acquiring reliable experimental data.By enabling molecular-level characterization,omics technologies can enhance the precision of animal model assessments,thereby improving the evaluation criteria.This review summarizes the current applications of omics in evaluating animal disease models,discusses their potential for quality control implementation,and proposes novel frameworks for standardized model validation.

Background and Aims:Reconstructing huge abdominal wall defects after abdominal wall tumor resection is a significant challenge for surgeons.Here,we summarize the experience of our team in repairing these defects using an anterolateral thigh chimeric perforator flap combined with artificial materials,within a multidisciplinary collaborative framework,aiming to provide a reference for other practitioners.Methods:The clinicopathologic data of 7 patients who underwent primary reconstruction of large abdominal wall defects after malignant tumor resection,using an anterolateral thigh chimeric perforator flap combined with artificial materials,at Xiangya Hospital,Central South University,between October 2019 and April 2024,were retrospectively analyzed.The clinical outcomes were evaluated.Results:All 7 patients successfully underwent both tumor resection and primary abdominal wall reconstruction without surgery-related mortality.The wound in all patients healed in one stage,with no severe complications such as surgical site infections or flap necrosis.During a follow-up period of 6 to 54 months,2 patients experienced tumor recurrence,one of whom died(exact cause unknown),while the other continued anti-tumor treatment.The remaining 5 patients were alive without recurrence.One patient developed abdominal wall bulging,but no obvious incisional hernia occurred in any of the patients.Conclusion:The use of an anterolateral thigh chimeric perforator flap combined with artificial materials for repairing large abdominal wall defects after abdominal tumor resection can achieve satisfactory therapeutic outcomes.This approach is a feasible and safe method for abdominal wall reconstruction.

Objective:To analyze the results of next generation sequencing (NGS) gene testing in liquid-based cytological specimens of lung adenocarcinoma cavity and evaluate the clinical efficacy of epidermal growth factor receptor-tyrosine kinase inhibitor (EGFR-TKI) treatment.Methods:Liquid based cytological specimens of 222 cases of lung adenocarcinoma with cavity effusion and 201 cases of metastatic lymph node biopsy were collected. Specimens were obtained from the Cytology Laboratory of the Cancer Hospital of the Chinese Academy of Medical Sciences. The collection period was from January 2018 to December 2022. The results of NGS gene detection were compared. The clinical efficacy of 91 patients treated with EGFR-TKI was evaluated, and the survival curve was analyzed by Kaplan-Meier and other statistical methods.Results:The mutation rates of cancer-related genes detected by NGS were 82.0% (182/222) vs 79.1% (159/201), ( P=0.455) in liquid-based cytological specimens and histological specimens of metastatic lymph node biopsy, respectively. However, the mutation rate of EGFR T790M was significantly higher in cavity effusion than in lymph node biopsy specimens [12.2%(27/222)＞3.5%(7/201), P=0.001]. The results of gene mutation were identical in 10 of the 13 cases with cavity effusion and metastatic lymph node biopsy, and the agreement rate of EGFR was 84.6%(11/13). In 3 inconsistent cases, EGFR mutations were detected in 2 cavity effusion cases that were not detected by lymph node biopsy. Results of genetic analysis of fluid-based cytological samples of 91 patients with cavity effusion were evaluated after drug treatment with EGFR-TKI. The mean progression-free survival (PFS) of the patients was 11.4 months (95% CI: 9.9-12.9). The mean PFS of patients harboring EGFR mutation was 12.3 months (95% CI: 10.8-13.9), and the mean PFS of EGFR wild type was 4.1 months (95% CI: 2.1-6.2). Conclusions:The results of NGS gene detection in liquid-based cytological specimens of lung adenocarcinoma patients with cavity effusion show that the PFS time is similar to that of histological specimens after clinical treatment with EGFR-TKI, which proves the reliability of NGS gene detection results in liquid cytological specimens. NGS gene testing appears higher sensitivity in cavity liquid-based samples than in metastatic lymph node samples.

This paper focuses on the application of health big data in cancer screening. Firstly, the sources and characteristics of health big data are introduced, then the commonly used epidemiological designs and analytical techniques in hospital-based cancer screening studies are summarized and the application scenarios of such studies are described. Finally, the challenges and future development in the application of health big data are analyzed to provide reference for the future studies.

Objective:To investigate the risk factors for severe postpartum hemorrhage (SPPH) during vaginal delivery of twin pregnancy.Methods:A retrospective analysis was conducted on clinical data from twin pregnancies ≥28 weeks′ gestation undergoing vaginal delivery at Peking University Third Hospital between January 2016 and December 2023. The twin pregnant women were divided into the SPPH group (postpartum hemorrhage ≥1 000 ml within 24 hours) with 22 cases and the non-SPPH group with 171 cases. The differences between the two groups were compared and the risk factors for SPPH were analyzed.Results:(1) The incidence of SPPH during vaginal delivery in twin pregnancies was 11.4% (22/193). The causes of SPPH included 12 cases (54.5%, 12/22) of simple uterine atony, 4 cases (18.2%, 4/22) of uterine atony combined with vaginal lacerations after forceps delivery, and 6 cases (27.3%, 6/22) of uterine atony combined with placental factors. (2) The age and postpartum hospital stay in the SPPH group were significantly higher than those in the non-SPPH group (all P<0.05). Compared to the non-SPPH group, the proportion of hypertensive disorders in pregnancy, accreta placenta implantation, and anemia in the SPPH group were significantly increased, and the birth weight of newborn 1st, the sum of the birth weights of two newborns, the duration of the second stage of labor, and the proportion of labor followed induction were also significantly increased (all P<0.05). (3) Multivariate analysis showed that age ≥38 years ( OR=16.785, 95% CI: 2.679-105.166; P=0.003), the second stage of labor ≥90 minutes ( OR=9.670, 95% CI: 2.532-36.930; P=0.001), hypertensive disorders in pregnancy ( OR=5.945, 95% CI: 1.702-20.761; P=0.005), and anemia ( OR=8.048, 95% CI: 2.086-31.049; P=0.002) were independent risk factors for SPPH in twin pregnancies during vaginal delivery. Conclusions:Anemia should be actively corrected during twin pregnancy. For twin pregnant women with advanced age, hypertensive disorders in pregnancy, or other risk factors of SPPH, if vaginal delivery is chosen, attention should be paid to the management of labor duration, dynamic assessment of the risk of postpartum hemorrhage, and proactive measures should be taken to ensure a smooth vaginal delivery and effectively reduce the incidence of SPPH.

Objective:To establish 30-day of age transcutaneous bilirubin (TcB) reference curves for healthy neonates, and to investigate regional variations in bilirubin dynamics.Methods:A multicenter retrospective cohort study was conducted. A total of 220 950 healthy neonates born at a gestational age of 35-<42 weeks, with a birth weight ≥2 000 g, who did not receive phototherapy within 60 h after birth were recruited. All of them underwent remote TcB monitoring using the Bilibaby remote jaundice monitoring system between August 1 st, 2020 and December 31 st, 2024 in 426 hospitals. TcB data were collected within the period from birth to 30-day of age. The P40, P75, and P95 of TcB values were calculated, and dynamic TcB curves for 30-day of age were constructed. Patterns of bilirubin change, rates of change, and transition outcomes were described. Regional comparisons between South and North were conducted using linear mixed-effects models for TcB trajectories and Pearson′s chi-square test for outcome differences. Results:A total of 220 950 neonates were included, of whom 101 711 (46.03%) were female. Gestational age at birth was (38.75±1.12) weeks, and birth weight was (3 272±417) g. TcB levels increased rapidly within 3-day of age, peaked at 4-6-day of age, with peak values at P40, P75, and P95 of 200.6, 239.7 and 275.4 μmol/L (11.8, 14.1 and 16.2 mg/dl), respectively. TcB levels gradually declined thereafter and stabilized after 13-day of age, with values at P40, P75, and P95 fluctuating between 147.9-159.8, 190.4-200.6, and 231.2-239.7 μmol/L (8.7-9.4, 11.2-11.8, 13.6-14.1 mg/dl), respectively. Notably, among neonates categorized as low-or low-intermediate-risk within 3-day of age, 6 700 (12.76%) progressed to intermediate-high or high risk between 4 and 30 days of age. Before 13-day of age, TcB levels in the southern regions were consistently higher than those in the northern regions ( P=0.039); from 14 to 30 days of age, the overall TcB levels had no statistically difference, but the temporal changes in TcB still showed regional differences (degrees of freedom=3, all interaction P<0.05). Among neonates classified as low-or low-intermediate risk within 3-day of age, 25 326 were from southern regions, of whom 4 254 (16.80%) progressed to intermediate-high or high risk between 4 and 30 days of age. In northern regions, 27 193 neonates were classified as low-or low-intermediate risk within 3-day of age, among whom 2 446 (8.99%) progressed to intermediate-high or high risk. The risk progression between the 2 regions had statistically difference ( χ2=716.49, P<0.001). Conclusions:A TcB percentile curve for neonates within 30-day of age was established, revealing that both the overall TcB level and its temporal trend were higher in southern than in northern newborns. These findings provide baseline data to support continuous management of neonatal jaundice.

Objective:To analyze the results of next generation sequencing (NGS) gene testing in liquid-based cytological specimens of lung adenocarcinoma cavity and evaluate the clinical efficacy of epidermal growth factor receptor-tyrosine kinase inhibitor (EGFR-TKI) treatment.Methods:Liquid based cytological specimens of 222 cases of lung adenocarcinoma with cavity effusion and 201 cases of metastatic lymph node biopsy were collected. Specimens were obtained from the Cytology Laboratory of the Cancer Hospital of the Chinese Academy of Medical Sciences. The collection period was from January 2018 to December 2022. The results of NGS gene detection were compared. The clinical efficacy of 91 patients treated with EGFR-TKI was evaluated, and the survival curve was analyzed by Kaplan-Meier and other statistical methods.Results:The mutation rates of cancer-related genes detected by NGS were 82.0% (182/222) vs 79.1% (159/201), ( P=0.455) in liquid-based cytological specimens and histological specimens of metastatic lymph node biopsy, respectively. However, the mutation rate of EGFR T790M was significantly higher in cavity effusion than in lymph node biopsy specimens [12.2%(27/222)＞3.5%(7/201), P=0.001]. The results of gene mutation were identical in 10 of the 13 cases with cavity effusion and metastatic lymph node biopsy, and the agreement rate of EGFR was 84.6%(11/13). In 3 inconsistent cases, EGFR mutations were detected in 2 cavity effusion cases that were not detected by lymph node biopsy. Results of genetic analysis of fluid-based cytological samples of 91 patients with cavity effusion were evaluated after drug treatment with EGFR-TKI. The mean progression-free survival (PFS) of the patients was 11.4 months (95% CI: 9.9-12.9). The mean PFS of patients harboring EGFR mutation was 12.3 months (95% CI: 10.8-13.9), and the mean PFS of EGFR wild type was 4.1 months (95% CI: 2.1-6.2). Conclusions:The results of NGS gene detection in liquid-based cytological specimens of lung adenocarcinoma patients with cavity effusion show that the PFS time is similar to that of histological specimens after clinical treatment with EGFR-TKI, which proves the reliability of NGS gene detection results in liquid cytological specimens. NGS gene testing appears higher sensitivity in cavity liquid-based samples than in metastatic lymph node samples.

Background and Aims:Reconstructing huge abdominal wall defects after abdominal wall tumor resection is a significant challenge for surgeons.Here,we summarize the experience of our team in repairing these defects using an anterolateral thigh chimeric perforator flap combined with artificial materials,within a multidisciplinary collaborative framework,aiming to provide a reference for other practitioners.Methods:The clinicopathologic data of 7 patients who underwent primary reconstruction of large abdominal wall defects after malignant tumor resection,using an anterolateral thigh chimeric perforator flap combined with artificial materials,at Xiangya Hospital,Central South University,between October 2019 and April 2024,were retrospectively analyzed.The clinical outcomes were evaluated.Results:All 7 patients successfully underwent both tumor resection and primary abdominal wall reconstruction without surgery-related mortality.The wound in all patients healed in one stage,with no severe complications such as surgical site infections or flap necrosis.During a follow-up period of 6 to 54 months,2 patients experienced tumor recurrence,one of whom died(exact cause unknown),while the other continued anti-tumor treatment.The remaining 5 patients were alive without recurrence.One patient developed abdominal wall bulging,but no obvious incisional hernia occurred in any of the patients.Conclusion:The use of an anterolateral thigh chimeric perforator flap combined with artificial materials for repairing large abdominal wall defects after abdominal tumor resection can achieve satisfactory therapeutic outcomes.This approach is a feasible and safe method for abdominal wall reconstruction.

This paper focuses on the application of health big data in cancer screening. Firstly, the sources and characteristics of health big data are introduced, then the commonly used epidemiological designs and analytical techniques in hospital-based cancer screening studies are summarized and the application scenarios of such studies are described. Finally, the challenges and future development in the application of health big data are analyzed to provide reference for the future studies.