Objective:To investigate genetic findings and pregnancy outcomes in fetuses with omphalocele.Methods:This retrospective study analyzed data from 502 fetuses with prenatally diagnosed omphalocele who underwent genetic testing at Guangzhou Women and Children's Medical Center and Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region between January 2014 and March 2024. Testing methods included karyotyping, chromosomal microarray analysis (CMA), methylation-specific multiplex ligation-dependent probe amplification, and whole-exome sequencing (WES). Cases were categorized as non-isolated ( n=340) or isolated ( n=162) based on ultrasound findings. Differences in genetic abnormality detection rates and pregnancy outcomes were analyzed using Mann-Whitney U test, independent samples t-test, and Chi-square test (or Fisher's exact test). Results:Among 502 fetuses, karyotyping plus CMA detected chromosomal abnormalities in 223 cases (44.4%, 223/502), including trisomy 18 (57.0%, 127/223) and trisomy 13 (23.3%, 52/223). CMA additionally identified nine pathogenic copy number variations (1.8%, 9/502) and five uniparental disomies (1.0%, 5/502), increasing the total diagnostic yield from 44.4% to 47.2%. The genetic abnormality rate was significantly lower in isolated (14.8%, 24/162) versus non-isolated omphalocele (64.7%, 220/340) ( χ2=109.34, P<0.001). WES detected variants in nine of 16 karyotype/CMA-negative cases, including five pathogenic variants involving PIK3CA and CDKN1C. Eight imprinting disorders (1.6%, 8/502) were identified, including five Beckwith-Wiedemann syndrome cases. Among 499 cases with follow-up, 401 (80.4%, 401/499) underwent pregnancy termination. Live birth rate was higher in isolated versus non-isolated groups [42.5% (69/162) vs. 8.5% (29/340), χ2=77.67, P<0.001]. Three cases were lost to follow-up. The one-year survival rate was 93.9% (92/98) in live-born infants. Conclusion:Aneuploidy (particularly trisomy 18) is the primary genetic etiology of omphalocele. CMA and WES significantly improve diagnostic yield. Isolated omphalocele has a more favorable prognosis, while non-isolated cases show significantly higher genetic abnormality rates. A stratified testing strategy is recommended: karyotyping plus CMA for isolated cases and prioritization of WES for multiple anomalies.

Objective:To analyze the changes in coagulation during the treatment of acute promyelocytic leukemia(APL)and explore the influencing factors of coagulation in patients with APL.Methods:Data of 166 APL patients admitted to our hospital from November 2018 to May 2023 were retrospectively analyzed,and the changes of various clinical indicators before and during treatment were compared.166 APL patients were divided into abnormal coagulation group(n=115)and normal coagulation group(n=51)according to whether they experienced coagulation dysfunction.The basic information,clinical data and laboratory indicators of the two groups were compared.Multivariate logistic regression analysis was used to screen risk factors for coagulation dysfunction and established logistic regression model.Then we developed a neural network model and ranked the importance of the influencing factors,and used receiver operating characteristic(ROC)curves to evaluate the predictive performance of the two models.Results:The comparative results of various clinical indicators in 166 APL patients before and during treatment showed that systolic blood pressure(SBP),diastolic blood pressure(DBP),total cholesterol(TC),triacylglycerol(TG),low-density lipoprotein cholesterol(LDL-C),estimated glomerular filtration rate(eGFR),platelet(PLT)and fibrinogen(FIB)were significantly increased during the treatment(P＜0.05),while glycosylated hemoglobin(HbA1c),high density lipoprotein cholesterol(HDL-C),blood urea nitrogen(BUN),serum creatinine(SCr),high-sensitivity C reactive protein(hs-CRP),IL-6,TNF-α,TGF-(3,white blood cells(WBC),absolute neutrophil count(ANC),prothrombin time(PT),activated partial thromboplastin time(APTT),D-dimer(D-D),fibrinogen degradation products(FDP)and lactate dehydrogenase(LDH)were significantly decreased during the treatment(P＜0.05).The proportion of patients with hemorrhage and high-risk APL in the abnormal coagulation group was significantly higher than that in the normal coagulation group(P＜0.05).The levels of IL-6,TNF-α,WBC,ANC,D-D,FDP and LDH in the abnormal coagulation group were significantly higher than those in the normal coagulation group(P＜0.05).The influencing factors selected by univariate analysis were incorporated into logistic regression analysis and neural network model to predict the risk of coagulation dysfunction in APL patients.ROC curves showed that the AUC of the two models were 0.896 and 0.908,the sensitivity were 0.824 and 0.892,the specificity were 0.940 and 0.904,the Youden index were 0.764 and 0.796,and the accuracy were 0.882 and 0.898,respectively.Conclusion:High risk stratification,hemorrhage,elevated WBC,LDH,ANC and FDP levels are independent risk factors for coagulation dysfunction in APL patients.The logistic regression model and neural network model based on these risk factors demonstrate good predictive performance for coagulation dysfunction in APL patients.

Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.

Objective:To optimize the previously established Improved Membrane Filtration(ISET)method for de-tecting circulating tumor cells(CTCs)and to develop and validate a new,reliable CTC detection method by combining it with immunofluorescence techniques.Methods:The study involved optimizing the CTC detection system using mixed samples of gastric cancer 803 cell lines and peripheral blood(PB)from healthy volunteers to simulate the peripheral blood of cancer patients.The optimized system was validated using peripheral blood samples from 23 patients with ad-vanced(Ⅲ/Ⅳ)cancer,employing the ISET technique combined with immunocytochemistry(ICC)and paraffin block im-munohistochemistry(IHC)identification techniques.A cohort of 74 patients with various cancer types was used to com-pare the diagnostic performance of the membrane filtration combined with immunofluorescence(ISET-ICC)system against the CTC-Biopsy and CellSearchTM methods.Results:By adding a red blood cell lysis step and increasing the membrane pore size to 10 μm,the filtration time of the ISET method was reduced by threefold.The ISET-ICC detection method achieved a CTC positivity rate of 65.2％.The combination of the ISET-ICC system with the cell paraffin block-IHC method enhanced the reliability of identifying circulating tumor cells undergoing epithelial-mesenchymal transition(EMT-CTCs).The ISET-ICC technique demonstrated a significantly higher CTC positivity rate(17.6％;13/74)within the study cohort compared to the CellSearchTM method,which showed a CTC positivity rate of 12.2％(9/74;x2=10.21,P=0.007).The difference in positive detection rates among patients at different stages was statistically significant(x2=3.64,P=0.029),with a notably higher CTC detection rate in stage Ⅳ patients compared to those in stages Ⅰ-Ⅲ(x2=6.76,P=0.001).Conclusion:The improved ISET-ICC system effectively detects CTCs across various cancer types and dem-onstrates greater accuracy compared to the CellSearchTM system.

Objective To develop and validate a"quick self-assessment questionnaire for cochlear implant out-come(QSACI)".Methods A research team,composed of audiologists,otolaryngologists,data analysis experts,and cochlear implant(CI)recipients,was formed to establish objectives,research subject criteria,and framework of the QSACI.An item pool was creaed through literature review and brainstorming.Question items were evaluated and screened,and the framework and answer options of the questionnaire were established.The comprehensibility,etc.,was analyzed and refined through pilot test,interviews,and expert consultation,leading to the development of the final version.A total of 39 post-lingually deafened adults with known stable outcomes completed the question-naire.The split-half and test-retest reliabilty of the questionnaire was analyzed,and the validity was quantitatively analyzed by comparing scores with the categories of auditory performance(CAP)scores.Results The initial item pool of the questionnaire had 18 items,and the final questionnaire consisted of 12 questions in four dimensions:com-munication status,audiological status,medical factors,and other factors.The average score of 39 recipients was 88.81±6.17 and CAP was 6.19±0.94.The questionnaire showed good reliability and validity,with a Cronbach's alpha coefficient of 0.71 and a test-retest reliability of 0.824(P＜0.05).The criterion-related validity,assessed by the correlation between the self-assessment questionnaire scores and CAP scores,showed a significant moderate pos-itive correlation(r=0.512,P＜0.05).The correlation coefficient between self-assessment and professional assess-ment was 0.720(P＜0.05),indicating a significant correlation.The area under the receiver operating characterstic(ROC)curve was 0.82(P＜0.05),the cutoff values corresponding to the maximal Youden index were 82.5 and 88.6,therefore score of 85 was taken as the median threshold score of judgement.Conclusion The QSACI reflects the post-imlplant outcomes,and it can serve as a tool for people with postlingually deafness and their families to un-derstand the eligbility of CI and the expected outcomes,helping to establish realistic expectations before CI surgery.

Idiopathic pulmonary fibrosis(IPF)is a chronic progressive disease with a short survival time after diagnosis.Current treatments using western medicines have shown poor efficacy and lung transplantation is costly,highlighting the need to find new,safe,and effective treatments.Animal experiments are important for investigating the mechanisms of drug action,and suitable animal models of IPF are required for experimental research.Bleomycin is commonly used to induce IPF models.Traditional Chinese medicine(TCM)has the advantages of multiple therapeutic targets and few adverse reactions,and is gradually gaining attention for the treatment of IPF.Ongoing experimental research is being carried out to verify the specific targets and mechanisms of TCM in the treatment of IPF,utilizing animal models of IPF.This review considers the selection of animal models of IPF,the method used to induce,establish,and evaluate the models,and the interventional effects of TCM.We also summarize the best modeling method for animal models of IPF and the current status of TCM treatments to provide a basis for further scientific research and the clinical treatment of IPF.

ObjectiveTo investigate the effects of modified Ditan tang on genes related to the transcription-translation feedback loop （TTFL） of biorhythm in the rat model of non-alcoholic fatty liver disease （NAFLD） and its mechanism for prevention and treatment of NAFLD. MethodsSixty-five healthy SPF male SD rats were randomly assigned into blank （n=20）， model （n=15）， and low-， medium-， and high-dose （2.68， 5.36， and 10.72 g·kg^-1·d^-1， respectively） modified Ditan tang （n=10） groups. Other groups except the blank group were fed a high-fat diet for 12 weeks. The modified Ditan tang groups were treated with the decoction at corresponding doses by gavage， and the blank and model groups were treated with an equal volume of normal saline from the 9th week for 4 weeks. The levels of triglyceride （TG）， total cholesterol （TC）， low-density lipoprotein cholesterol （LDL-C）， high-density lipoprotein cholesterol （HDL-C）， aspartate aminotransferase （AST）， and alanine aminotransferase （ALT） in the serum were measured by an automatic biochemical analyzer. TG and non-esterified fatty acid （NEFA） assay kits were used to measure the levels of TG and NEFA in the liver. The pathological changes in the hypothalamus and liver were observed by hematoxylin-eosin staining， and the lipid deposition in the liver was observed by oil red O staining. The levels of brain-muscle ARNT-like protein 1 （BMAL1/ARNTL） in the hypothalamus and liver were determined by immunohistochemical staining. The mRNA and protein levels of BMAL1， circadian locomotor output cycles kaput （CLOCK）， period circadian clock 2 （PER2）， and cryptochrome1 （Cry1） in the hypothalamus and liver were determined by Real-time PCR and Western blot， respectively. ResultsCompared with the blank group， the model group showed elevated levels of TG， TC， LDL-C， AST， and ALT （P<0.01） and a lowered level of HDL-C （P<0.05） in the serum， elevated levels of TG and NEFA in the liver （P<0.01）， pyknosis and deep staining of hypothalamic neuron cells， and a large number of vacuoles in the brain area. In addition， the model group showed lipid deposition in the liver， up-regulated mRNA and protein levels of CLOCK and BMAL1 （P<0.01）， and down-regulated mRNA and protein levels of Cry1 and PER2 （P<0.01） in the hypothalamus and liver. Compared with the model group， all the three modified Ditan tang groups showed lowered levels of TG， TC， LDL-C， ALT， and AST （P<0.05， P<0.01） and an elevated level of HDL-C （P<0.05） in the serum， and lowered levels of TG and NEFA （P<0.05， P<0.01） in the liver. Furthermore， the three groups showed alleviated pyknosis and deep staining of hypothalamic neuron cells， reduced lipid deposition in the liver， down-regulated mRNA and protein levels of CLOCK and BMAL1 （P<0.05， P<0.01）， and up-regulated mRNA and protein levels of Cry1 and PER2 （P<0.05， P<0.01） in the hypothalamus and liver. ConclusionModified Ditan tang can reduce lipid deposition in the liver and regulate the expression of CLOCK， BMAL1， Cry1， and PER2 in the TTFL of NAFLD rats.

Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.

Objective: To construct prediction models of female stress urinary incontinence (SUI), and evaluate the efficacy of each model, so as to provide reference for the early diagnosis of SUI. Methods: Female SUI patients treated in our hospital during Oct. 2019 and Oct. 2023 and healthy women undergoing physical examination during the same period were involved. Women 42 days after delivery were included in the postpartum group (n=611), and perimenopausal and postmenopausal women were included in the non-postpartum group (n=409). The number of random seeds was set and the participants were divided into the training and verification sets in a ratio of 7∶3. Relevant clinical data were collected, and meaningful variables were screened using single factor and Lasso regression, which were then incorporated into the K-nearest neighbor method (KNN), support vector machine (SVM)，decision tree (DT) and random forest (RF) algorithms. The sensitivity, specificity, accuracy and area under the receiver operating characteristic curve (AUC) of the models were calculated to screen out the optimal model. Results: There were 352 SUI patients (57.6%) in the postpartum group. According to single factor and Lasso regression, significant variables included age, body mass index (BMI), maximum rapid muscle stage, parity, bladder neck mobility (BND), urethral rotation angle (URA), lateral perineal incision, past incontinence, and constipation. In the verification set, the AUC of KNN，SVM，DT and RF models were 0.881，0.878，0.750 and 0.905,respectively; the AUC, accuracy, F1 index and Kappa value of RF model were the largest. In the non-postpartum group, there were 260 SUI patients, accounting for 63.6%. The significant variables were age，BMI, maximum value and recovery time of fast muscle stage, mean value of slow muscle stage, post-resting stage variability, vaginal delivery, past incontinence, and constipation. In the verification set, the AUC of KNN,SVM，DT and RF models were 0.819,0.805，0.603 and 0.830, respectively; the AUC, accuracy, Kappa value of the RF model were the largest. Conclusion: This study successfully established 4 prediction models for the incidence of SUI in women at 42 days postpartum, perimenopausal and postmenopausal women based on machine learning. Among them, the model adopting the RF algorithm had the best prediction efficiency.

Objective To investigate the change in choroid plexus(CP)volume in Parkinson's disease(PD)patients with different cognitive states and its correlation with structural volumes of other brain regions.Methods A cross-sectional study was conducted on 48 PD patients admitted in Department of Neurosurgery of the First Affiliated Hospital of Army Medical University between May 2023 and April 2024,and on 35 healthy controls(HC)recruited through a physical exam center.According to the results of Mini-Mental State Examination(MMSE),the patients were divided into PD with cognitive impairment(PD-CI)group(n=27)and PD with normal cognitive function(PD-NC)group(n=21).3.0T magnetic resonance imaging(MRI)was performed using MPRAGE sequences,and CP volume and volumes of other brain regions were obtained using FreeSurfer 6.0 software.The CP volume was adjusted by calculating the ratio of its volume to estimated total intracranial volume(eTIV).After controlling for confounders,partial correlation analysis was used to assess the relationship between the CPV/eTIV ratio and the volumes of other brain regions as well as cognitive scale scores.Additionally,multiple linear regression analysis was performed to further explore the relationship between CPV and cognitive function in the PD-CI group.Results Compared to the HC group,the CPV in the PD-CI group was significantly larger(P=0.029).In the PD-CI group,the CPV/eTIV ratio showed significant positive correlations with the volume of the lateral ventricles(r=0.689,P=0.001),the volume of the third ventricle(r=0.592,P=0.006),the volume of cerebrospinal fluid(CSF)(r=0.508,P=0.022),and white matter hyperintensities(WMH)(r=0.486,P=0.030),but was negatively correlated with the volume of the caudate nucleus(r=-0.530,P=0.016),the volume of the thalamus(r=-0.477,P=0.033),and the MMSE scores(r=-0.483,P=0.031).But in the PD-NC group,the CPV/eTIV ratio was only positively correlated with CSF volume(r=0.571,P=0.021).Multiple linear regression analysis indicated that the CPV/eTIV ratio and MMSE scores remained significantly negatively correlated in the PD-CI group(β=-0.388,P=0.046).Conclusion Cognitive impairment in PD patients may be closely associated with the change in CP volume,suggesting that the volume can serve as a potential imaging marker in assessment of cognitive impairment in PD patients.