1.Concordance and pathogenicity of copy number variants detected by non-invasive prenatal screening in 38,611 pregnant women without fetal structural abnormalities.
Yunyun LIU ; Jing WANG ; Ling WANG ; Lin CHEN ; Dan XIE ; Li WANG ; Sha LIU ; Jianlong LIU ; Ting BAI ; Xiaosha JING ; Cechuan DENG ; Tianyu XIA ; Jing CHENG ; Lingling XING ; Xiang WEI ; Yuan LUO ; Quanfang ZHOU ; Ling LIU ; Qian ZHU ; Hongqian LIU
Chinese Medical Journal 2025;138(4):499-501
2.Prediction of testicular histology in azoospermia patients through deep learning-enabled two-dimensional grayscale ultrasound.
Jia-Ying HU ; Zhen-Zhe LIN ; Li DING ; Zhi-Xing ZHANG ; Wan-Ling HUANG ; Sha-Sha HUANG ; Bin LI ; Xiao-Yan XIE ; Ming-De LU ; Chun-Hua DENG ; Hao-Tian LIN ; Yong GAO ; Zhu WANG
Asian Journal of Andrology 2025;27(2):254-260
Testicular histology based on testicular biopsy is an important factor for determining appropriate testicular sperm extraction surgery and predicting sperm retrieval outcomes in patients with azoospermia. Therefore, we developed a deep learning (DL) model to establish the associations between testicular grayscale ultrasound images and testicular histology. We retrospectively included two-dimensional testicular grayscale ultrasound from patients with azoospermia (353 men with 4357 images between July 2017 and December 2021 in The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China) to develop a DL model. We obtained testicular histology during conventional testicular sperm extraction. Our DL model was trained based on ultrasound images or fusion data (ultrasound images fused with the corresponding testicular volume) to distinguish spermatozoa presence in pathology (SPP) and spermatozoa absence in pathology (SAP) and to classify maturation arrest (MA) and Sertoli cell-only syndrome (SCOS) in patients with SAP. Areas under the receiver operating characteristic curve (AUCs), accuracy, sensitivity, and specificity were used to analyze model performance. DL based on images achieved an AUC of 0.922 (95% confidence interval [CI]: 0.908-0.935), a sensitivity of 80.9%, a specificity of 84.6%, and an accuracy of 83.5% in predicting SPP (including normal spermatogenesis and hypospermatogenesis) and SAP (including MA and SCOS). In the identification of SCOS and MA, DL on fusion data yielded better diagnostic performance with an AUC of 0.979 (95% CI: 0.969-0.989), a sensitivity of 89.7%, a specificity of 97.1%, and an accuracy of 92.1%. Our study provides a noninvasive method to predict testicular histology for patients with azoospermia, which would avoid unnecessary testicular biopsy.
Humans
;
Male
;
Azoospermia/diagnostic imaging*
;
Deep Learning
;
Testis/pathology*
;
Retrospective Studies
;
Adult
;
Ultrasonography/methods*
;
Sperm Retrieval
;
Sertoli Cell-Only Syndrome/diagnostic imaging*
3.Exploration of Benign and Malignant Tendency of Breast Tumors Based on Analysis of Birthdate Circuit Qi Endowment of Five Circuit Phases and Six Climatic Factors
Sha ZHONG ; Tian-Jing YE ; Ying-Tong LIN ; Jun LI ; Dan XIE
Journal of Guangzhou University of Traditional Chinese Medicine 2024;41(6):1393-1400
Objective To explore the birthdate circuit qi endowment of the five circuit phases and six climatic factors in the female patients with benign and malignant breast tumors,and to analyze the benign and malignant tendency of breast tumors.Methods The birth date information of 723 patients with breast malignant tumor(breast cancer)and 1 595 patients with benign breast tumor were collected from the electronic medical record system of the First Affiliated Hospital of Guangzhou University of Chinese Medicine.SPSS 25.0 statistical software was used to analyze the circuit qi information of the two groups of patients.Results(1)The analysis of suiyun(yearly evolutive phase)showed that the patients born in the years of excessive wood phase,excessive fire phase,and deficiency earth phase tended to suffer from breast cancer,while the patients born in the years of deficiency gold phase,deficiency wood phase,and excessive water phase tended to suffer from benign breast tumors.(2)The analysis of dominant qi(regular yearly circuit qi)showed that the patients born at the time of shaoyin monarch fire were more likely to suffer from breast cancer,while patients born at the time of jueyin wind-wood and taiyin damp-earth were more likely to suffer from benign breast tumors.(3)The analysis of guest qi(alterable yearly circuit qi)showed that the patients born at the time of jueyin wind-wood and yangming dry-gold were more likely to suffer from breast cancer,and the patients born at the time of shaoyang ministerial fire and taiyang cold-water were more likely to suffer from benign breast tumors.(4)The analysis of birth season showed that the patients born in spring were more likely to suffer from breast cancer.(5)The analysis of the combination of circuit and qi(circuit phases and climatic factors)showed that the patients born in the year of xiaoni(circuit phases generating climatic factors),buhe(circuit phases restricting climatic factors),and tianxing(sitian climatic factors restricting the predominant circuit phases)tended to suffer from breast cancer,and patients born in the year of suihui(yearly heavenly-stem circuit phase accorded with the yearly earthly-branch circuit qi)and tongsuihui(deficiency yearly circuit phase in accordance with the second half of the alterable yearly circuit qi)tended to suffer from benign breast tumors.(6)The analysis of celestial control-terrestrial effect showed that the combination of celestial control-terrestrial had no significant effect on the incidence of breast cancer or benign breast tumors(P>0.05).Conclusion(1)Certain differences and tendencies of birthdate circuit qi endowment exist between benign breast tumors and breast cancer.(2)The birthdate circuit qi endowment of breast cancer is characterized by wind and heat,and mainly involves liver,spleen,heart and kidney.Compared with patients with benign breast tumors,patients with breast cancer usually have the excess and heat biased constitution endowment.
4.Investigation of blood lipid metabolism and risk factors of prognosis in children with systemic lupus erythematosus
Qin CHENG ; Xinyi WEI ; Wei ZHANG ; Sha LI ; Jingwei LI ; Yuanyuan PENG ; Yu FANG ; Xue XIE
Journal of Public Health and Preventive Medicine 2024;35(6):157-160
Objective To explore the characteristics of blood lipid metabolism indicators and risk factors of prognosis in children with systemic lupus erythematosus (SLE). Methods A total of 54 children who were diagnosed with SLE and hospitalized in Chengdu Women and Children’ s Central Hospital from January 2013 to August 2022 were selected. Clinical data of all children were collected and blood lipid metabolism indicators and biochemical indicators were detected , and binary logistic regression was used to analyze the prognosis risk factors in children with SLE. Results Among the 47 cases (87.04%) had abnormal blood lipid metabolism at admission, and is mainly manifested as elevated levels of LDL-C, TG and TC and decreased level of HDL-C. The proportion of cardiovascular system damage, hematological system damage, urinary protein positivity, and SLEDAI-2000 score in the group with good prognosis were lower than those in the group with poor prognosis, while the proportion of dsDNA positivity was higher in the group with poor prognosis. Binary Logistic regression analysis showed that the cardiovascular system damage and positive urinary protein were risk factors for poor prognosis, with statistically significant differences (P<0.05). Conclusion Abnormal blood lipid metabolism is common in children with SLE, and cardiovascular system damage and positive urinary protein may increase the risk of poor prognosis in young children.
5.A multicenter study of neonatal stroke in Shenzhen,China
Li-Xiu SHI ; Jin-Xing FENG ; Yan-Fang WEI ; Xin-Ru LU ; Yu-Xi ZHANG ; Lin-Ying YANG ; Sheng-Nan HE ; Pei-Juan CHEN ; Jing HAN ; Cheng CHEN ; Hui-Ying TU ; Zhang-Bin YU ; Jin-Jie HUANG ; Shu-Juan ZENG ; Wan-Ling CHEN ; Ying LIU ; Yan-Ping GUO ; Jiao-Yu MAO ; Xiao-Dong LI ; Qian-Shen ZHANG ; Zhi-Li XIE ; Mei-Ying HUANG ; Kun-Shan YAN ; Er-Ya YING ; Jun CHEN ; Yan-Rong WANG ; Ya-Ping LIU ; Bo SONG ; Hua-Yan LIU ; Xiao-Dong XIAO ; Hong TANG ; Yu-Na WANG ; Yin-Sha CAI ; Qi LONG ; Han-Qiang XU ; Hui-Zhan WANG ; Qian SUN ; Fang HAN ; Rui-Biao ZHANG ; Chuan-Zhong YANG ; Lei DOU ; Hui-Ju SHI ; Rui WANG ; Ping JIANG ; Shenzhen Neonatal Data Network
Chinese Journal of Contemporary Pediatrics 2024;26(5):450-455
Objective To investigate the incidence rate,clinical characteristics,and prognosis of neonatal stroke in Shenzhen,China.Methods Led by Shenzhen Children's Hospital,the Shenzhen Neonatal Data Collaboration Network organized 21 institutions to collect 36 cases of neonatal stroke from January 2020 to December 2022.The incidence,clinical characteristics,treatment,and prognosis of neonatal stroke in Shenzhen were analyzed.Results The incidence rate of neonatal stroke in 21 hospitals from 2020 to 2022 was 1/15 137,1/6 060,and 1/7 704,respectively.Ischemic stroke accounted for 75%(27/36);boys accounted for 64%(23/36).Among the 36 neonates,31(86%)had disease onset within 3 days after birth,and 19(53%)had convulsion as the initial presentation.Cerebral MRI showed that 22 neonates(61%)had left cerebral infarction and 13(36%)had basal ganglia infarction.Magnetic resonance angiography was performed for 12 neonates,among whom 9(75%)had involvement of the middle cerebral artery.Electroencephalography was performed for 29 neonates,with sharp waves in 21 neonates(72%)and seizures in 10 neonates(34%).Symptomatic/supportive treatment varied across different hospitals.Neonatal Behavioral Neurological Assessment was performed for 12 neonates(33%,12/36),with a mean score of(32±4)points.The prognosis of 27 neonates was followed up to around 12 months of age,with 44%(12/27)of the neonates having a good prognosis.Conclusions Ischemic stroke is the main type of neonatal stroke,often with convulsions as the initial presentation,involvement of the middle cerebral artery,sharp waves on electroencephalography,and a relatively low neurodevelopment score.Symptomatic/supportive treatment is the main treatment method,and some neonates tend to have a poor prognosis.
6.Chinical application of synaptic vesicle protein 2A radioactive tracer 18F-SynVesT-1 in patients with Alzheimer′s disease
Kun HE ; Junpeng LI ; Hai SHA ; Yue QIAN ; Jie WANG ; Qi HUANG ; Jun ZHAO ; Qihao GUO ; Yihui GUAN ; Fang XIE
Chinese Journal of Nuclear Medicine and Molecular Imaging 2024;44(5):291-296
Objective:To investigate the application of (4R)-4-(3-[ 18F]fluoranyl-5-fluorophenyl)-1-((3-methylpyridin-4-yl)methyl)pyrrolidin-2-one( 18F-SynVesT-1), a synaptic vesicle glycoprotein 2A (SV2A) radioactive tracer, in patients with Alzheimer′s disease (AD). Methods:A total of 20 AD patients (2 males, 18 females, age (66.4±8.1) years) with positive β-amyloid (Aβ) deposition and 20 normal controls (NC; 9 males, 11 females, age (62.6±8.6) years ) without Aβ deposition were retrospectively recruited from Huashan Hospital, Fudan University between December 2021 and December 2022. All of them underwent 18F-SynVesT-1 PET/MR and 18F-Florbetapir (AV45) PET/CT scans. Preprocessing of brain 18F-SynVesT-1 PET images was carried out using statistical parametric mapping (SPM). The differences of the uptke of 18F-SynVesT-1 (synaptic density) between two groups based on ROI were compared by using either the independent-sample t test or Mann-Whitney U test. Spearman rank correlation analysis was performed to assess the relationship between synaptic density and cognitive performance. For voxelwise analysis, a general linear model was constructed to analyze differences in synaptic density between the two groups using the independent-sample t test. Furthermore, a multiple linear regression model was developed to explore the relationship between synaptic density and cognitive performance. Results:Compared to the NC group, the AD group exhibited significant widespread reduction in synaptic density across the cortical regions ( P<0.05, false discovery rate (FDR)-corrected), particularly in the medial temporal lobe (0.84±0.09 vs 1.04±0.09; t=-6.95, P<0.001), lateral temporal lobe (1.15±0.13 vs 1.31±0.08; t=-4.56, P<0.001), and lateral parietal lobe (1.24(1.04, 1.26) vs 1.32(1.23, 1.39); z=-3.25, P=0.001). Moreover, synaptic density in extensive cortical regions showed a positive correlation with mini-mental state examination (MMSE) and Montreal cognitive assessment-basic (MoCA-B) scores ( P<0.05, FDR-corrected). Notably, significant associations were observed between MMSE and MoCA-B scores and synaptic density in the lateral temporal lobe ( rs values: 0.71, 0.74, both P<0.001) and medial temporal lobe ( rs values: 0.71, 0.74, both P<0.001). Conclusions:18F-SynVesT-1 PET imaging is a valuable tool for evaluating synaptic density, specifically in the context of AD. The observed widespread reduction in synaptic density across cortical regions of patients with AD are closely related to cognitive decline.
7.Development and validation of prognostic nomogram for malignant pleural mesothelioma.
Xiao Jie XIE ; Jian You CHEN ; Jie JIANG ; Hui DUAN ; Yi WU ; Xing Wen ZHANG ; Shen Jie YANG ; Wen ZHAO ; Sha Sha SHEN ; Li WU ; Bo HE ; Ying Ying DING ; Heng LUO ; Si Yun LIU ; Dan HAN
Chinese Journal of Oncology 2023;45(5):415-423
Objective: To development the prognostic nomogram for malignant pleural mesothelioma (MPM). Methods: Two hundred and ten patients pathologically confirmed as MPM were enrolled in this retrospective study from 2007 to 2020 in the People's Hospital of Chuxiong Yi Autonomous Prefecture, the First and Third Affiliated Hospital of Kunming Medical University, and divided into training (n=112) and test (n=98) sets according to the admission time. The observation factors included demography, symptoms, history, clinical score and stage, blood cell and biochemistry, tumor markers, pathology and treatment. The Cox proportional risk model was used to analyze the prognostic factors of 112 patients in the training set. According to the results of multivariate Cox regression analysis, the prognostic prediction nomogram was established. C-Index and calibration curve were used to evaluate the model's discrimination and consistency in raining and test sets, respectively. Patients were stratified according to the median risk score of nomogram in the training set. Log rank test was performed to compare the survival differences between the high and low risk groups in the two sets. Results: The median overall survival (OS) of 210 MPM patients was 384 days (IQR=472 days), and the 6-month, 1-year, 2-year, and 3-year survival rates were 75.7%, 52.6%, 19.7%, and 13.0%, respectively. Cox multivariate regression analysis showed that residence (HR=2.127, 95% CI: 1.154-3.920), serum albumin (HR=1.583, 95% CI: 1.017-2.464), clinical stage (stage Ⅳ: HR=3.073, 95% CI: 1.366-6.910) and the chemotherapy (HR=0.476, 95% CI: 0.292-0.777) were independent prognostic factors for MPM patients. The C-index of the nomogram established based on the results of Cox multivariate regression analysis in the training and test sets were 0.662 and 0.613, respectively. Calibration curves for both the training and test sets showed moderate consistency between the predicted and actual survival probabilities of MPM patients at 6 months, 1 year, and 2 years. The low-risk group had better outcomes than the high-risk group in both training (P=0.001) and test (P=0.003) sets. Conclusion: The survival prediction nomogram established based on routine clinical indicators of MPM patients provides a reliable tool for prognostic prediction and risk stratification.
Humans
;
Mesothelioma, Malignant
;
Prognosis
;
Nomograms
;
Retrospective Studies
;
Proportional Hazards Models
8.Material compatibility of human albumin
Yali WANG ; Junhui WEI ; Meichun YANG ; Xiaojuan ZHOU ; He REN ; Sha LI ; Nan XIE
Chinese Journal of Blood Transfusion 2023;36(8):681-686
【Objective】 To investigate the compatibility of human albumin and its internal packaging materials of Sinopharm Lanzhou Biopharmaceutical Co., Ltd. 【Methods】 One batch of inner packaging materials (medium borosilicate glass-molded injection bottle and halogenated butyl rubber plug for injection) was extracted with 4 extraction solvents to conduct the toxicological evaluation of potential inner packaging extracts. Through the simulated acceleration test, the trend analysis of the elements in the sample and the inner surface of the glass bottle were observed, and the routine drug inspection items during the long-term stability test process were determined. 【Results】 The detection results of the leaching elements of the internal packaging materials did not exceed the limit of 50%, and the organic matter safety threshold (margin of safety, MOS) was greater than 1.0, indicating that both the leaching elements and the organic matter had no safety risk to the user under the current exposure. The results of the simulated acceleration test show that the drug will not have the risk of peeling tablets after the long-term stability condition was placed for a period of time, and the routine inspection items of the long-term stability test drugs all meet the requirements of the pharmacopoeia. 【Conclusion】 The inner packaging material has no significant impact on the quality of drugs and has good overall compatibility, making it suitable for packaging human albumin.
9.Research progress of frailty assessment tools and influencing factors in elderly patients with hematological maligilancy
Jinying ZHAO ; Wenjun XIE ; Junjie LI ; Qianqian ZHANG ; Lan WANG ; Li XU ; Zenghui SHA ; Dan XU ; Jie YAN ; Benlin BAO ; Xiaoxu REN
Chinese Journal of Modern Nursing 2023;29(14):1933-1938
Frailty denotes a nonspecific clinical condition characterized by a decrease of physiological reservation in multiple systems, which makes individuals extremely vulnerable to stressors. Frailty increases the incidence of adverse outcomes and death of patients. However, frailty is reversible and preventable. Therefore, this article reviews theoretical models, assessment tools and influencing factors of frailty in elderly patients with hematologic maligilancy, so as to provide references for medical staff to carry out frailty management and related research in elderly patients with hematologic maligilancy.
10.Application of ultrasound-guided endoscopic retrograde appendicitis therapy in children with appendix-related chronic abdominal pain.
Jian-Qin KANG ; Wei ZHANG ; Ya-Long ZHANG ; Yu-Pin LI ; Yan LIN ; Xiao-Min XIE ; Sha-Sha WEI ; Ling-Chao ZENG ; Bao-Xi WANG ; Xun JIANG
Chinese Journal of Contemporary Pediatrics 2022;24(4):360-365
OBJECTIVES:
To study the clinical efficacy of ultrasound-guided endoscopic retrograde appendicitis therapy in children with appendix-related chronic abdominal pain.
METHODS:
A retrospective analysis was performed on the medical data of 30 children with the chief complaint of chronic abdominal pain who were admitted from August 2019 to May 2021. All the children were found to have inflammation of the appendix or intracavitary stool and fecalith by ultrasound and underwent ultrasound-guided endoscopic retrograde appendicitis therapy. The medical data for analysis included clinical manifestations, endoscopic findings, white blood cell count, neutrophil percentage, length of hospital stay, and cure rate.
RESULTS:
Among the 30 children with chronic abdominal pain, there were 13 boys (43%) and 17 girls (57%), with a mean age of (9±3) years (range 3-15 years) at diagnosis. The median duration of the disease was 12 months, and the median length of hospital stay was 3 days. The children had a median white blood cell count of 6.7×109/L and a neutrophil percentage of 50%±13%. Fecalith and a large amount of feces were flushed out of the appendix cavity for 21 children (70%) during surgery. The follow-up rate was 97% (29/30), and the median follow-up time was 11 months (range 5-26 months). Of the 29 children, abdominal pain completely disappeared in 27 children (93%).
CONCLUSIONS
Ultrasound-guided endoscopic retrograde appendicitis therapy is effective in children with chronic abdominal pain caused by feces or fecalith in the appendix cavity.
Abdominal Pain/etiology*
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Adolescent
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Appendicitis/surgery*
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Appendix/surgery*
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Child
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Child, Preschool
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Fecal Impaction
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Female
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Humans
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Male
;
Retrospective Studies
;
Ultrasonography, Interventional


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