1.Causal association between intrahepatic cholestasis of pregnancy and offspring neurodevelopmental disorders and mediating roles of lipoproteins and ATPase:A Mendelian randomization study
Zhengdong CHEN ; Qingqi RAN ; Minghui XIAO ; Qinyi YU ; Wenjie PENG ; Zhangxue HU
Journal of Army Medical University 2025;47(22):2725-2734
Objective To explore the callsal association between intrahepatic cholestasis of pregnancy(ICP)and offspring attention-deficit hyperactivity disorder(ADHD)and Tourette's syndrome(TS)and its potential mechanisms.Methods Genome wide association study(GWAS)in public datasets was used to extract data.Among them,exposure was ICP(n=123 579),which stems from FinnGen dataset.Outcome was defined as ADHD,TS and other tic disorders(n=23 918),which is extracted from GWAS Catalog.Among mediators,total cholesterol in high-density lipoprotein(TC in HDL)were from the genetic map of the human plasma proteinome(n=21 558),and Obg-like ATPase 1 was from whole-genome study of circulating metabolites(n=3 301).In this study,we chose instrumental variables(IVs)that meets the Mendelian randomization(MR)hypothesis.When using two-sample MR,inverse variance weighted(IVW)was adopted as the primary method,and MR-Egger regression,weighted median,weighted mode,and simple mode were also utilized to analyse the robustness.Cochran's Q test,MR-Egger intercept test and leave-one-out sensitivity analysis were performed to verify the reliability.Significant threshold was set up as P<0.05.When using two-step MR,the first step is two-sample MR from exposure to mediator,and the second step is multivariable MR(MVMR),which is from mediator to outcome.At this time,conditional F-statistic was adopted to test the strength of IVs.At last,product distribution test was applied to determine the significance of mediation effects.Results ICP was significantly related to ADHD and TS as well as other tic disorders in offspring(IVW:OR=1.003,95%CI:1.000~1.006,P=0.035),and sensitivity analysis verified the robustness of the results.The potential positive mediators included TC in HDL[total effect(TE)=2.855×10-3;mediated effect(ME)=8.628×10-4;mediated proportion(MP)=30.217%,95%CI:0.878%~73.954%],and Obg-like ATPase 1(TE=2.855×10-3;ME=1.216×10-3;MP=42.572%,95%CI:6.356%~90.195%).Conclusion ICP is possible to elevate the incidence rate of ADHD and TS and other tic disorders via reducing TC in HDL and Obg-like ATPase 1.
2.Validation and Forensic Application of a Domestic Human DNA Quantitative De-tection Kit
Jing CHEN ; Ya-Ping WANG ; Yun-Peng FENG ; Xiao-Xin HU ; Zhen-Jun JIA ; Hong-Di LIU ; An-Xin YAN ; Yong-Jiu LI ; Zhu PENG ; Zhi-Fang LIU ; Jian-Gang CHEN
Journal of Forensic Medicine 2025;41(3):252-259
Objective To verify the efficacy of a domestic human DNA quantification kit based on real-time fluorescence quantitative PCR in detecting the total human DNA concentration,male DNA concen-tration in mixed male/female DNA samples,the degree of DNA degradation and inhibitor tolerance.Methods Samples with different concentrations,different male/female ratios,different concentrations of inhibitors,and different degradation degrees were tested using the domestic human DNA quantification kit based on real-time fluorescence quantitative PCR.This kit was compared with a similar product on the market and was applied to the detection of DNA from real cases.Results This human DNA quan-tification kit can effectively detect human DNA as low as 0.001 65 ng/μL,and 6.25 pg/μL of male DNA in mixed samples with a male-to-female ratio of 1∶15 000.Even when the sample contains as high as 400 ng/μL of humic acid or 1 000 μmol/L of hemin alone,the DNA concentration can still be accurately detected.The degradation index can effectively characterize the degradation degree of the sample.This kit has been successfully applied in forensic practice.Conclusion This human DNA quan-tification kit is accurate and reliable in detection.It can accurately reflect the degradation of DNA and inhibitor tolerance.It has good performance in quantitative accuracy,determination of the male/female ratio in mixed samples,and inhibitor tolerance.It has application potential in forensic case examination.
3.Diagnosis of coronary artery lesions in children based on Z-score regression model.
Yong WANG ; Jia-Ying JIANG ; Yan DENG ; Bo LI ; Ping SHUAI ; Xiao-Ping HU ; Yin-Yan ZHANG ; Han WU ; Lu-Wei YE ; Qian PENG
Chinese Journal of Contemporary Pediatrics 2025;27(2):176-183
OBJECTIVES:
To construct a Z-score regression model for coronary artery diameter based on echocardiographic data from children in Sichuan Province and to establish a Z-score calculation formula.
METHODS:
A total of 744 healthy children who underwent physical examinations at Sichuan Provincial People's Hospital from January 2020 to December 2022 were selected as the modeling group, while 251 children diagnosed with Kawasaki disease at the same hospital from January 2018 to December 2022 were selected as the validation group. Pearson correlation analysis was conducted to analyze the relationships between coronary artery diameter values and age, height, weight, and body surface area. A regression model was constructed using function transformation to identify the optimal regression model and establish the Z-score calculation formula, which was then validated.
RESULTS:
The Pearson correlation analysis showed that the correlation coefficients for the diameters of the left main coronary artery, left anterior descending artery, left circumflex artery, and right coronary artery with body surface area were 0.815, 0.793, 0.704, and 0.802, respectively (P<0.05). Among the constructed regression models, the power function regression model demonstrated the best performance and was therefore chosen as the optimal model for establishing the Z-score calculation formula. Based on this Z-score calculation formula, the detection rate of coronary artery lesions was found to be 21.5% (54/251), which was higher than the detection rate based on absolute values of coronary artery diameter. Notably, in the left anterior descending and left circumflex arteries, the detection rate of coronary artery lesions using this Z-score calculation formula was higher than that of previous classic Z-score calculation formulas.
CONCLUSIONS
The Z-score calculation formula established based on the power function regression model has a higher detection rate for coronary artery lesions, providing a strong reference for clinicians, particularly in assessing coronary artery lesions in children with Kawasaki disease.
Humans
;
Male
;
Female
;
Child, Preschool
;
Child
;
Coronary Artery Disease/diagnostic imaging*
;
Infant
;
Mucocutaneous Lymph Node Syndrome
;
Regression Analysis
;
Coronary Vessels/diagnostic imaging*
;
Echocardiography
;
Adolescent
4.Relationship between polygenic risk scores for various psychiatric disorders and clinical and neuropsychological characteristics in children with attention-deficit/hyperactivity disorder.
Zhao-Min WU ; Peng WANG ; Chao DONG ; Xiao-Lan CAO ; Lan-Fang HU ; Cong KOU ; Jia-Jing JIANG ; Lin-Lin ZHANG ; Li YANG ; Yu-Feng WANG ; Ying LI ; Bin-Rang YANG
Chinese Journal of Contemporary Pediatrics 2025;27(9):1089-1097
OBJECTIVES:
To investigate the relationship between the polygenic risks for various psychiatric disorders and clinical and neuropsychological characteristics in children with attention-deficit/hyperactivity disorder (ADHD).
METHODS:
Using a cross-sectional design, 285 children with ADHD and 107 healthy controls were assessed using the Child Behavior Checklist, the Behavior Rating Inventory of Executive Function for parents, the Wechsler Intelligence Scale for Children, Fourth Edition, and the Cambridge Neuropsychological Test Automated Battery. Blood samples were collected for genetic data. Polygenic risk scores (PRSs) for various psychiatric disorders were calculated using the PRSice-2 software.
RESULTS:
Compared with the healthy controls, the children with ADHD displayed significantly higher PRSs for ADHD, major depressive disorder, anxiety disorder, and obsessive-compulsive disorder (P<0.05). In terms of daily-life executive function, ADHD-related PRS was significantly correlated with the working memory factor; panic disorder-related PRS was significantly correlated with the initiation factor; bipolar disorder-related PRS was significantly correlated with the shift factor; schizophrenia-related PRS was significantly correlated with the inhibition, emotional control, initiation, working memory, planning, organization, and monitoring factors (P<0.05). The PRS related to anxiety disorders was negatively correlated with total IQ and processing speed index (P<0.05). The PRS related to obsessive-compulsive disorder was negatively correlated with the processing speed index and positively correlated with the stop-signal reaction time index of the stop-signal task (P<0.05).
CONCLUSIONS
PRSs for various psychiatric disorders are closely correlated with the behavioral and cognitive characteristics in children with ADHD, which provides more insights into the heterogeneity of ADHD.
Humans
;
Attention Deficit Disorder with Hyperactivity/genetics*
;
Child
;
Male
;
Female
;
Cross-Sectional Studies
;
Neuropsychological Tests
;
Multifactorial Inheritance
;
Adolescent
;
Mental Disorders/etiology*
;
Executive Function
;
Genetic Risk Score
5.Analysis of Hormone Levels in Patients with Hematological Diseases Before and After Hematopoietic Stem Cell Tansplantation.
Fen LI ; Yu-Jin LI ; Jie ZHAO ; Zhi-Xiang LU ; Xiao-Li GAO ; Hai-Tao HE ; Xue-Zhong GU ; Feng-Yu CHEN ; Hui-Yuan LI ; Qi SA ; Lin ZHANG ; Peng HU
Journal of Experimental Hematology 2025;33(5):1443-1452
OBJECTIVE:
By analyzing the hormone secretion of the adenohypophysis, thyroid glands, gonads, and adrenal cortex in patients with hematological diseases before and after hematopoietic stem cell transplantation (HSCT), this study aims to preliminarily explore the effect of HSCT on patients' hormone secretion and glandular damage.
METHODS:
The baseline data of 209 hematological disease patients who underwent HSCT in our hospital from January 2019 to December 2023, as well as the data on the levels of hormones secreted by the adenohypophysis, thyroid glands, gonads and adrenal cortex before and after HSCT were collected, and the changes in hormone levels before and after transplantation were analyzed.
RESULTS:
After allogeneic HSCT, the levels of thyroid-stimulating hormone (TSH), triiodothyronine (T3), free triiodothyronine (FT3) and estradiol (E2) decreased, while the levels of luteinizing hormone (LH) and follicle- stimulating hormone (FSH) increased. The T3 level of patients with decreased TSH after transplantation was lower than that of those with increased TSH after transplantation. In female patients, the levels of prolactin (PRL), progesterone (Prog), and testosterone (Testo) decreased after HSCT. Testo and PRL decreased when there was a donor-recipient sex mismatch, and the levels of adrenocorticotropic hormone (ACTH) and cortisol (COR) decreased when the HLA matching was haploidentical. The levels of T3, FT3, and PRL decreased after autologous HSCT. In allogeneic HSCT patients, the levels of TSH, T4, T3, FT3, and ACTH in the group with graft-versus-host disease (GVHD) were significantly lower than those in the group without GVHD. Logistic regression analysis showed the changes in hormone levels after transplantation were not correlated with factors such as the patient's sex, age, or whether the blood types of the donor and the recipient are the same.
CONCLUSION
HSCT can affect the endocrine function of patients with hematological diseases, mainly affecting target glandular organs such as the thyroid, gonads, and adrenal glands, while the secretory function of the adenohypophysis is less affected.
Humans
;
Hematopoietic Stem Cell Transplantation
;
Female
;
Male
;
Hematologic Diseases/blood*
;
Follicle Stimulating Hormone/blood*
;
Triiodothyronine/blood*
;
Luteinizing Hormone/blood*
;
Thyroid Gland/metabolism*
;
Estradiol/blood*
;
Thyrotropin/blood*
;
Gonads/metabolism*
;
Adult
;
Middle Aged
;
Adrenocorticotropic Hormone/blood*
;
Hormones/metabolism*
;
Adrenal Cortex/metabolism*
;
Prolactin
6.Preparation of baicalin-berberine complex nanocrystal enteric microspheres and pharmacodynamic evaluation of ulcerative colitis treatment in rats.
Xiao-Chao HUANG ; Yi-Wen HU ; Peng-Yu SHEN ; Rui-Hong JIAN ; Dong-Li QI ; Zhi-Dong LIU ; Jia-Xin PI
China Journal of Chinese Materia Medica 2025;50(15):4263-4274
To enhance the therapeutic efficacy of the baicalin-berberine complex(BA-BBR) in the treatment of ulcerative colitis(UC), BA-BBR nanocrystal microspheres(BA-BBR NC MS) were prepared using the dropping method. The microspheres were characterized in terms of morphology, particle size, differential scanning calorimetry(DSC), and powder X-ray diffraction(XRD). The release profiles of BA and BBR from the microspheres were measured, and the drug release mechanism was investigated. A rat model of UC was induced by 5% dextran sodium sulfate(DSS) and treated continuously for 7 days to evaluate the therapeutic effects of different formulations. The results showed that the prepared BA-BBR MS and BA-BBR NC MS were uniform gel spheres with particle sizes of(1.77±0.16) mm and(1.67±0.08) mm, respectively. After drying, the gels collapsed inward and exhibited a rough surface. During the preparation process, the BA-BBR nanocrystals(BA-BBR NC) were uniformly encapsulated within the microspheres. The release profiles of the microspheres followed a first-order kinetic model, and the 12-hour cumulative release of BA and BBR from BA-BBR NC MS was higher than that from BA-BBR MS. Compared with BA-BBR, BA-BBR NC, and BA-BBR MS, BA-BBR NC MS further alleviated UC symptoms in rats, most significantly reducing the levels of TNF-α, IL-1β, IL-6, and MPO, while increasing the level of IL-4 in colon tissues. These results indicate that BA-BBR NC MS, based on a "nano-in-micro" design, can deliver BA-BBR to the intestine and exert significant therapeutic effects in a UC rat model, suggesting it as a promising new strategy for the treatment of UC.
Animals
;
Colitis, Ulcerative/metabolism*
;
Rats
;
Nanoparticles/chemistry*
;
Microspheres
;
Male
;
Berberine/administration & dosage*
;
Flavonoids/administration & dosage*
;
Rats, Sprague-Dawley
;
Drugs, Chinese Herbal/administration & dosage*
;
Humans
;
Particle Size
;
Tumor Necrosis Factor-alpha/immunology*
;
Drug Liberation
;
Drug Compounding
7.Development of a machine learning-based risk prediction model for mild cognitive impairment with spleen-kidney deficiency syndrome in the elderly.
Ya-Ting AI ; Shi ZHOU ; Ming WANG ; Tao-Yun ZHENG ; Hui HU ; Yun-Cui WANG ; Yu-Can LI ; Xiao-Tong WANG ; Peng-Jun ZHOU
Journal of Integrative Medicine 2025;23(4):390-397
OBJECTIVE:
As an age-related neurodegenerative disease, the prevalence of mild cognitive impairment (MCI) increases with age. Within the framework of traditional Chinese medicine, spleen-kidney deficiency syndrome (SKDS) is recognized as the most frequent MCI subtype. Due to the covert and gradual onset of MCI, in community settings it poses a significant challenge for patients and their families to discern between typical aging and pathological changes. There exists an urgent need to devise a preliminary diagnostic tool designed for community-residing older adults with MCI attributed to SKDS (MCI-SKDS).
METHODS:
This investigation enrolled 312 elderly individuals diagnosed with MCI, who were randomly distributed into training and test datasets at a 3:1 ratio. Five machine learning methods, including logistic regression (LR), decision tree (DT), naive Bayes (NB), support vector machine (SVM), and gradient boosting (GB), were used to build a diagnostic prediction model for MCI-SKDS. Accuracy, sensitivity, specificity, precision, F1 score, and area under the curve were used to evaluate model performance. Furthermore, the clinical applicability of the model was evaluated through decision curve analysis (DCA).
RESULTS:
The accuracy, precision, specificity and F1 score of the DT model performed best in the training set (test set), with scores of 0.904 (0.845), 0.875 (0.795), 0.973 (0.875) and 0.973 (0.875). The sensitivity of the training set (test set) of the SVM model performed best among the five models with a score of 0.865 (0.821). The area under the curve of all five models was greater than 0.9 for the training dataset and greater than 0.8 for the test dataset. The DCA of all models showed good clinical application value. The study identified ten indicators that were significant predictors of MCI-SKDS.
CONCLUSION
The risk prediction index derived from machine learning for the MCI-SKDS prediction model is simple and practical; the model demonstrates good predictive value and clinical applicability, and the DT model had the best performance. Please cite this article as: Ai YT, Zhou S, Wang M, Zheng TY, Hu H, Wang YC, Li YC, Wang XT, Zhou PJ. Development of a machine learning-based risk prediction model for mild cognitive impairment with spleen-kidney deficiency syndrome in the elderly. J Integr Med. 2025; 23(4): 390-397.
Humans
;
Cognitive Dysfunction/diagnosis*
;
Aged
;
Male
;
Female
;
Machine Learning
;
Spleen
;
Aged, 80 and over
;
Kidney
;
Medicine, Chinese Traditional
8.Predicting Postoperative Circulatory Complications in Older Patients: A Machine Learning Approach.
Xiao Yun HU ; Wei Xuan SHENG ; Kang YU ; Jie Tai DUO ; Peng Fei LIU ; Ya Wei LI ; Dong Xin WANG ; Hui Hui MIAO
Biomedical and Environmental Sciences 2025;38(3):328-340
OBJECTIVE:
This study examines utilizes the advantages of machine learning algorithms to discern key determinants in prognosticate postoperative circulatory complications (PCCs) for older patients.
METHODS:
This secondary analysis of data from a randomized controlled trial involved 1,720 elderly participants in five tertiary hospitals in Beijing, China. Participants aged 60-90 years undergoing major non-cardiac surgery under general anesthesia. The primary outcome metric of the study was the occurrence of PCCs, according to the European Society of Cardiology and the European Society of Anaesthesiology diagnostic criteria. The analysis metrics contained 67 candidate variables, including baseline characteristics, laboratory tests, and scale assessments.
RESULTS:
Our feature selection process identified key variables that significantly impact patient outcomes, including the duration of ICU stay, surgery, and anesthesia; APACHE-II score; intraoperative average heart rate and blood loss; cumulative opioid use during surgery; patient age; VAS-Move-Median score on the 1st to 3rd day; Charlson comorbidity score; volumes of intraoperative plasma, crystalloid, and colloid fluids; cumulative red blood cell transfusion during surgery; and endotracheal intubation duration. Notably, our Random Forest model demonstrated exceptional performance with an accuracy of 0.9872.
CONCLUSION
We have developed and validated an algorithm for predicting PCCs in elderly patients by identifying key risk factors.
Aged
;
Aged, 80 and over
;
Female
;
Humans
;
Male
;
Middle Aged
;
Cardiovascular Diseases/etiology*
;
Machine Learning
;
Postoperative Complications/etiology*
;
Risk Factors
;
Randomized Controlled Trials as Topic
;
Secondary Data Analysis
9.Minimally invasive therapy for new-onset or residual aortic arch pathology after ascending aortic replacement
Yi XIE ; Peng YANG ; Hongwei ZHANG ; Chen LU ; Yu LIU ; Yu ZHANG ; Qianlei LANG ; Wenfan LI ; Zhenyuan XU ; Chenhao WANG ; Zhenghua XIAO ; Jia HU
Chinese Journal of Thoracic and Cardiovascular Surgery 2025;41(6):366-371
Objective:To evaluate the outcomes of minimally invasive therapy for aortic arch pathology after ascending aortic replacement.Methods:A retrospective analysis was conducted at the Department of Cardiovascular Surgery, West China Hospital of Sichuan University from 2016 to 2024. After multidisciplinary discussion, these included patients were evaluated to be at high risk for traditional open surgery. Various minimally invasive repair techniques were employed, including Ⅳb hybrid technique, physician-modified endograft and novel unibody endograft. The study outcomes were technical success, in-hospital and follow-up mortality, stroke, endoleak, and the patency of the supra-aortic vessels.Results:A total of 40 patients(32 males and 8 females) with a median age of 60 years old were included in this study. The technique success rate was 100%, with no deaths or strokes reported. The patency of the supra-aortic vessels was 100%. 10 patients underwent Type Ⅳb hybrid surgery without any endoleaks occurring. Among the 22 patients who received physician-modified endograft, endoleaks were observed in 2 cases. One of these type Ⅰc endoleaks persisted and underwent reintervention. One patient underwent femoral artery replacement due to vascular injury. For the 8 patients who received novel unibody endograft, one case required reintervention due to persistent type Ⅰc endoleaks.Conclusion:With the development of different endovascular techniques and novel branched endograft, patients with aortic arch pathology who are at high risk for redo open surgery can achieve favorable outcomes with various minimal invasive techniques. However, long-term and large-sample follow-up studies are needed for further evaluation.
10.Observation on therapeutic effect of self-made auxiliary reduction device combined with sinus tarsi approach in treatment of Sanders type Ⅱ to Ⅳ calcaneal fractures
Yu ZHOU ; Da-gang TANG ; Wei PENG ; Xiao-bo HU ; Zhi CHEN ; Peng LONG ; Zhi-ping KUANG ; Chuan-zhi ZHANG
Journal of Regional Anatomy and Operative Surgery 2025;34(7):604-609
Objective To observe the efficacy of self-made auxiliary reduction device combined with sinus tarsi approach(STA)in the treatment of Sanders type Ⅱ to Ⅳ calcaneal fractures.Methods A total of 40 patients with Sanders type Ⅱ to Ⅳ calcaneal fractures admitted to our hospital from January to June 2023 were selected and divided into the control group and the observation group by the random number table method,with 20 cases in each group.Patients in the control group underwent surgical treatment with the heel extensile lateral approach(ELA),while patients in the observation group underwent surgical treatment with the auxiliary reduction device combined with STA.The surgical-related indicators,postoperative complications and ankle-foot anatomical indicators of patients in the two groups were compared.The recovery of limb function was evaluated by the American Orthopaedic Foot and Ankle Society(AOFAS)ankle-hindfoot scale and Maryland foot function score.Results There was no statistically significant difference in the operation time,postoperative incision drying time,or duration of postoperative pain between the two groups(P>0.05).The postoperative suture removal time of the patients in the observation group was shorter than that of the control group,and the difference was statistically significant(P<0.05).The incidence of skin edge necrosis of incision and the total incidence of complications of patients in the observation group were significantly lower than those in the control group(P<0.05).The B?hler angle and Gissane angle of patients in both groups increased after surgery compared with those before surgery(P<0.05);there was no statistically significant difference in the B?hler angle or Gissane angle after surgery of patients between the two groups(P>0.05).The AOFAS score1 week after surgery of the patients in the observation group was higher than that in the control group(P<0.05),while there were no statistically significant differences in the AOFAS scores or Maryland scores of patients at other time points between the two groups(P>0.05).Conclusion The use of the auxiliary reduction device in surgical treatment with STA for Sanders type Ⅱ to Ⅳ calcaneal fractures can effectively restore the function of the foot and ankle,with short postoperative suture removal time and low incidence of postoperative complications.

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