1.Analysis of Bone Health Status in Adult Hemophilia Patients
Ying LIU ; Ying GE ; Mingnan SHI ; Li ZHANG ; Chengjie YIN ; Lixia CHEN ; Weibo XIA
JOURNAL OF RARE DISEASES 2025;4(4):446-452
To investigate the bone health status and potential influencing factors of bone mineral density in adult patients with hemophilia, providing a reference for improving their bone health and for the prevention, treatment, and rehabilitation intervention of osteoporosis. This study is a retrospective analysis. Adult male patients with hemophilia A who visited the department of rehabilitation medicine at Peking Union Medical College Hospital from July 2022 to February 2024 were selected. Dual-energy X-ray absorptiometry (DXA) and high-resolution peripheral quantitative computed tomography (HR-pQCT) were used to assess the bone mineral density (BMD) of the patients. Anterolateral X-rays and Pettersson radiology scores were performed on the left ankle joint. Hemophilia Joint Health Score (HJHS) version 2.1 was used to calculate the HJHS score of the left ankle and evaluate the joint health status of the included patients. Serum bone metabolism indexes including total procollagen Ⅰ N-terminal propeptide (TP1NP) and C-terminal crosslinking β-isomerized carboxy-telopeptide of type Ⅰ collagen (β-CTX), and serum 25-(OH)D3 were detected. The patients' body composition parameters were measured, including the body mass index(BMI)and the skeletal muscle mass index (SMI). The correlation analysis of BMD detection values and its possible influencing factors was carried out. A total of 33 adult male patients with hemophilia A were selected, including 22 severe patients and 11 moderate patients, with an average age of 31.1±8.4 years. The hip BMD of the included patients was lower than the predicted value of age to varying degrees, and the minimum The hip BMD of adult hemophilia patients decreased.Joint dysfunction may be one of the factors associated with reduced bone density in patients with hemophilia. The increase in osteoclast activity may be accompanied by an increase in compensatory osteoblast activity.
2.Value of machine learning models based on structural MRI for diagnosis of Parkinson disease
Yang YA ; Erlei WANG ; Lirong JI ; Nan ZOU ; Yiqing BAO ; Chengjie MAO ; Weifeng LUO ; Hongkun YIN ; Guohua FAN
Chinese Journal of Radiology 2023;57(4):370-377
Objective:To explore the value of machine learning models based on multiple structural MRI features for diagnosis of Parkinson disease (PD).Methods:The clinical and imaging data of 60 PD patients (PD group) diagnosed in the Neurology Department of the Second Affiliated Hospital of Soochow University from November 2017 to August 2019 and 56 normal elderly people (NC group) recruited from the community were retrospectively analyzed. All subjects underwent brain MR imaging. Multiple structural MRI features were extracted from cerebellum, deep nuclei and of brain cortex based on different partition templates. The Mann-Whitney U test, as well as least absolute shrinkage and selection operator regression were used to select the most discriminating features. Finally, logistic regression (LR) and linear discriminant analysis (LDA) classifier combined with the 5-fold cross-validation scheme were used to construct the models based on structural features of cerebellum, deep nuclei and cortex, and a combined model based on all features. The receiver operating characteristic curves were drawn, and the diagnostic performance and clinical net benefit of each model were evaluated by the area under curve (AUC) and the decision curve analysis (DCA). Results:In total, four cerebellum (asymmetry index of Lobule Ⅵ volume, asymmetry index of Lobule ⅦB cortical thickness, asymmetry index of total gray matter volume and absolute value of right Lobule Ⅵ gray matter volume), 3 deep nuclei (absolute value of right nucleus accumbens volume, absolute and relative value of total nucleus accumbens volume) and 3 cortex features (local gyration index of left PFm, local fractal dimension of right superior frontal gyrus and sulcal depth of left superior occipital gyrus) were selected as the most discriminating features, and the related models were constructed. In validation set, the AUC of cerebellum, deep nuclei, cortex and combined models for diagnosis of PD based on LR classifier were 0.692, 0.641, 0.747 and 0.816; the AUC of cerebellum, deep nuclei, cortex and combined models for diagnosis of PD based on LDA classifier were 0.726, 0.610, 0.752 and 0.818. The diagnostic efficiency of the combined models based on LR and LDA classifiers were significantly better than those of other models ( P<0.05). The DCA curve demonstrated that the combined models based on LR and LDA classifiers showed the highest clinical net benefit. Conclusion:The combined models with all structural features of cerebellum, deep nuclei and cortex included based on LR and LDA classifiers showed favorable performance and clinical net benefit for diagnosis of PD, which have the potential application value in clinical diagnosis.
3.Glioma cells promote expression of cancer-related genes in human bone marrow-derived mesenchymal stromal cells in vitro
Rusen ZHU ; Chengjie XU ; Liubo LAN ; Xinggui CHEN ; Yuansheng LIANG ; Yanqing YIN
Chinese Journal of Nervous and Mental Diseases 2016;42(1):50-55
Objective We investigated the expression profile of cancer related genes in hMSCs co-cultured with U251 glioma cells, to evaluate the risk of malignant transformation of hMSCs in glioma environment. Methods hMSCs were co-cultured with U251 glioma cells for 5 days and the expression profile of cancer-related genes were investigated by using microarray assay, followed by Real-time quantitative RT-PCR and Western blot. Results Of the 440 cancer-re?lated genes covered by Oligo GEArray Human Cancer Microarray OHS-802, SPINT2, TK1, STC1, MMP1, CCND1, SORT1, SEPT6, CDC20, SHB, CDK5, RELA, XRCC4, KIT, CTPS, CAPNS1 and ETV6 were significantly upregulated (>3-fold) whereas none was downregulated in hMSCs co-cultured with U251 glioma cells. The upregulation of oncogenes KIT, CAPNS1, TK1, MMP1, CCND1, CDC20, RELA and STC1 in co-cultured hMSCs were confirmed by Real-time quan? titative RT-PCR. The upregulation of protein expression of oncogenes KIT, MMP1, CCND1 and RELA were detected by Western blot. Conclusion The present study demonstrates that co-culture of hMSCs with human glioma cells leads to up?regulation of some important oncogenes in hMSCs, indicating the tumorigenic potential of hMSCs in glioma environment.

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