1.Incidence and risk factors of pulmonary hypertension in Chinese people living with human immunodeficiency virus
Ling LUO ; Xiaojing SONG ; Wei LYU ; Zhengyin LIU ; Huanling WANG ; Yanling LI ; Xiaoxia LI ; Wei CAO ; Taisheng LI
Chinese Journal of Infectious Diseases 2024;42(3):141-146
Objective:To evaluate pulmonary hypertension (PH) in Chinese people living with human immunodeficiency virus (HIV) receiving long-term anti-retroviral therapy (ART) and those who had not received ART for HIV infection, and to analyze the risk factors for PH in HIV infected individuals, so as to provide evidence for the monitoring and management of cardiovascular diseases in people living with HIV in China.Methods:HIV infected individuals who received long-term ART were from the NCT04463810 study cohort. In addition, using propensity score matching method, gender matched HIV infected individuals who had not received ART were selected as controls from the NCT00872417 and NCT01844297 studies. This study was a retrospective and observational clinical study. Basic data, clinical visit and cardiac Doppler ultrasonography data were collected to analyze the prevalence of PH and risk factors for PH in people living with HIV. Chi-square test and multivariate logistic regression were used for statistical analysis.Results:Among the 318 HIV infected individuals, 159 underwent long-term ART and 159 did not receive ART, which were divided into long-term ART group and ART-na?ve group, respectively. Among 318 HIV infected individuals, 30 cases (9.4%) experienced PH, including 23 cases (7.2%) with critical PH, six cases (1.9%) with mild PH, one case (0.3%) with moderate PH, and there was no severe PH. The prevalence of PH in the long-term ART group was 5.0%(8/159), which was lower than that in the ART-na?ve group (13.8%, 22/159). The difference was statistically significant ( χ2=7.21, P=0.012). Multivariate analysis showed that older age (odds ratio ( OR)=1.064, 95% confidence interval ( CI) 1.019 to 1.111, P=0.016) and unsuppressed HIV status ( OR=2.660, 95% CI 1.041 to 6.797, P=0.041) were independent risk factors for PH of people living with HIV. Conclusions:The prevalence of PH in people living with HIV with long-term ART is lower than that of ART-na?ve people living with HIV. Older age and unsuppressed HIV status are independent risk factors for PH in people living with HIV. Cardiac Doppler ultrasonography is helpful for the early screening of PH in people living with HIV. ART should be actively performed to reduce the incidence of PH in people living with HIV.
2.Summary of the 19 th Chinese Symposium of Burns and Wounds
Yanling LYU ; Yu MO ; Guangping LIANG ; Gaoxing LUO ; Yizhi PENG ; Dan SUN ; Kaizhen QIU ; Luyao WU ; Tingting LI ; Zhixin LIU
Chinese Journal of Burns 2024;40(7):699-700
The 19 th Chinese Symposium of Burns and Wounds was successfully held in Foshan of Guangdong Province from June 20 th to 22 nd in 2024. There were more than 700 delegates attending the academic event. The theme of the congress was expansion, integration and standardization, which could promote academic exchanges, multi-disciplinary fusion, and standardization of clinical treatment of burns and wounds. A total of nearly 200 famous experts and scholars had their speeches on the two-day keynote forum and special academic seminars including critical care, wound repair, scar prevention and treatment, rehabilitation nursing, and disciplinary integration sessions. The congress ended successfully with abundant fruits and friendship.
3.FOS expression in oxytocin and vasopressin positive neurons in paraventricular nucleus of mice induced by diabetes
Shumin WANG ; Peng JIA ; Shuting REN ; Siting LYU ; Ting ZHANG ; Yanling YANG ; Juan SHI
Chinese Journal of Neuroanatomy 2024;40(1):35-42
Objective:To explore the feature of FOS expression in oxytocin-and vasopressin-positive neurons in the hypothalamic paraventricular nucleus(PVN)under different status of diabetes mellitus(DM).Methods:Intraperito-neal injection of vehicle or STZ in mice was conducted to establish control or diabetes model.Mechanical sensitivity was evaluated by von Frey filament tests to distinguish diabetic neuropathic pain(DNP)from without-pain group(DWP).The expression of FOS,oxytocin(OXT)-and vasopressin(VP)-positive neurons,as well as their double labeling was detected by immunohistochemical and immunofluorescent staining.Cell counting and comparison were made in groups.Results:FOS expression was easily detected in the PVN in the three groups(Control group,DNP group and DWP group)at 7 days,while that in DWP and DNP groups at 28 days was hardly detectable,with the number being signifi-cantly different from the 7 days group(P<0.05 or 0.001).Likewise,compared with the control group,immunofluo-rescent signals for VP and OXT staining in the DNP and DWP groups also showed a trend of weakening as the modeling time increased(P<0.05).The cell counting after double staining for VP or OXT with FOS showed that,in the DWP group at 7 days,the number of VP and FOS double-labeled neurons was 74.33±22.10,accounting for(56.64± 7.52)%of VP-positive cells,whereas the double labeling rate for OXT and FOS was only(10.44±3.14)%.In the DNP group at 7 days,the number of OXT and FOS double-labeled neurons was 51.00±31.80,accounting for(18.50 ±9.51)%of OXT-positive neurons,whereas the double labeling rate for VP and FOS was only(9.34±3.27)%.In contrast to these changes in 7 days group,the expression of FOS decreased sharply in the group of 28 days,thereby al-most no double-labeled neurons.Conclusion:The plasticity changes of oxytocin-and vasopressin-positive neurons in the PVN are different depending on the status of pain and non-pain,and the stage of disease progression.Understanding the changes is of great significance for unravelling the neural mechanism of diabetes and its complications.
4.Related factors of gastroesophageal reflux disease in children
Huijuan NING ; Xuemei ZHONG ; Yanling ZHANG ; Zheng LYU ; Kunyu YAO ; Yanfei CHEN ; Jiao WANG
Chinese Journal of General Practitioners 2023;22(6):603-607
Objective:To investigate the factors related to gastroesophageal reflux disease (GERD) in children.Methods:Clinical data of 370 children who underwent 24h multi-channel impedance-pH monitoring (24h MII-pH) in Children′s Hospital Affiliated to Capital Institute of Pediatrics from January 2015 to December 2020 were enrolled in the study. The children were divided into GERD group ( n=202)and non-GERD group ( n=168) according to results of 24h MII-pH. The relationship of sex, age, body mass index (BMI), disease course, peripheral blood eosinophils count, IgE, Helicobacter pylori (Hp) infection, hiatus hernia of patients with GERD was analyzed by univariate and multivariate logistic regression analysis. Results:In GERD group 124 were males and 78 were females with a mean age of (6.4±4.1) years (2 months to 16.75 years), and in non-GERD group 82 were males and 86 were females with a mean age of (8.0±3.5) years (10 months to 15.17 years). Univariate logistic regression analysis showed that sex( OR=0.600,95% CI:0.396-0.908, P=0.016), age ( OR=0.537,95% CI:0.412-0.699, P<0.001)and hiatus hernia( OR=7.433,95% CI:2.567-21.520, P<0.001)were significantly associated with GERD of the children. Multivariate analysis showed that hiatus hernia ( OR=4.023,95% CI:1.298-12.470, P=0.016) was the independent risk factor, while male gender ( OR=0.567,95% CI:0.367-0.874, P=0.010) and younger age ( OR=0.613, 95%CI:0.459-0.819, P=0.001 ) were related factors of gastroesophageal reflux disease in children. Conclusion:Sex, age, and hiatal hernia are factors related to GERD in children.
5.Effect of Jingui Shenqiwan on Diabetic Osteoporosis in Mice via AGEs/RANKL/NF-κB Pathway Based on Theory of "Kidneys Governing Bones"
Yanling ZHANG ; Yalan HUANG ; Fan XIAO ; Xialin LYU ; Xiu LIU ; Yongjun WU ; Rong YU
Chinese Journal of Experimental Traditional Medical Formulae 2023;29(14):11-20
ObjectiveTo investigate the effect of Jingui Shenqiwan on diabetic osteoporosis (DOP) in mice by regulating the advanced glycation end products (AGEs)/receptor activator of nuclear factor-κB ligand (RANKL)/nuclear factor-κB (NF-κB) signaling pathway based on the theory of "kidneys governing bones". MethodForty 6-week-old male and female skeletal-muscle-specific, dominant negative insulin-like growth factor-1 receptor (MKR) mice were selected and fed on a high-fat diet for eight weeks to establish the DOP model. The model mice were randomly divided into a model group, low- and high-dose Jingui Shenqiwan group (1.3, 2.6 g·kg-1), and an alendronate sodium group (0.01 g·kg-1), with 10 mice in each group. Additionally, 10 FVB/N mice of the same age were assigned to the normal group. The corresponding drugs were administered orally to each group once a day for four weeks. After the administration period, fasting blood glucose (FBG) measurement and oral glucose tolerance test (OGTT) were conducted. Kidney function and kidney index were measured. Renal tissue pathological changes were observed through hematoxylin-eosin (HE) and Masson staining. Immunohistochemistry was performed to assess the protein expression levels of AGEs, phosphorylated NF-κB (p-NF-κB), and RANKL in renal tissues. Western blot analysis was conducted to measure the expression of proteins related to the AGEs/RANKL/NF-κB signaling pathway, osteoprotegerin (OPG), and Runt-related transcription factor 2 (RUNX2) proteins in femoral bone tissues. ResultCompared with the normal group, mice in the model group exhibited significantly increased FBG (P<0.01), trabecular bone degeneration, abnormal bone morphological parameters, significantly increased area under the curve (AUC) of OGTT (P<0.01), enlarged kidney volume, significantly increased kidney function indicators and kidney index (P<0.01), disrupted renal glomeruli and renal tubule structures, significantly increased expression of AGEs, RANKL, and p-NF-κB/NF-κB in renal tissues (P<0.05), and significantly decreased expression of OPG and RUNX2 in femoral bone tissues (P<0.01). Compared with the model group, mice in the Jingui Shenqiwan groups showed a significant decrease in OGTT AUC (P<0.01). Histopathological analysis revealed alleviated structural lesions in renal glomeruli and renal tubules. Furthermore, the expression of AGEs, RANKL, and p-NF-κB/NF-κB in renal tissues was significantly reduced (P<0.05, P<0.01), and the expression of RUNX2 and OPG in femoral bone tissues was significantly increased (P<0.05, P<0.01). ConclusionJingui Shenqiwan can improve kidney function and downregulate the AGEs/RANKL/NF-κB signaling pathway to inhibit inflammatory reactions, thereby alleviating the symptoms of DOP in mice, demonstrating a therapeutic effect on DOP from the perspective of the kidney.
6.Effect of long-term combination anti-retroviral therapy on cardiovascular disease risks in human immunodeficiency virus/acquired immunodeficiency syndrome patients
Xiaodi LI ; Wei CAO ; Zhengyin LIU ; Xiaojing SONG ; Yanling LI ; Xiaoxia LI ; Yun HE ; Yong XIONG ; Hanhui YE ; Huiqin LI ; Huanling WANG ; Wei LYU ; Ling LUO ; Taisheng LI
Chinese Journal of Infectious Diseases 2022;40(8):496-504
Objective:To explore the risks of cardiovascular disease (CVD) and influencing factors in human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) patients with long-term combination anti-retroviral therapy (cART).Methods:The baseline data from the multi-center prospective cohort of HIV/AIDS patients who received long-term cART from 2018 to 2020 were collected. cART-naive HIV/AIDS patients were matched by age and gender using the propensity score matching (PSM) as controls. Data collection adverse events of anti-human immunodeficiency virus drugs reduced model (D: A: D[R]) score, Framingham risk score (FRS) and atherosclerotic cardiovascular disease (ASCVD) risk score were used to assess the 10-year CVD risk in patients with long-term cART treatment and in cART-naive patients. Logistic regression analysis was used to assess the risk factors related to high 10-year CVD risk.Results:A total of 301 HIV/AIDS patients received long-term cART and 300 cART-naive HIV/AIDS patients were included, with an average age of 39.8 years old. There were 490 male accounting for 81.5%. Based on the D: A: D [R] score, 4.3%(13/301) of patients in the long-term cART group had a 10-year CVD risk assessment of ≥10%, and 6.3%(19/300) of patients in the cART-naive group. Based on the FRS, 13.4%(36/269) of patients in the long-term cART group had a 10-year CVD risk assessment of ≥10%, and 10.6%(28/264) in the cART-naive group. Based on the ASCVD risk score, 10.4%(14/135) of patients in the long-term cART group had a 10-year CVD risk assessment of ≥7.5%, and 13.8%(17/123) in the cART-naive group. There was no significant difference in the prevalence of high 10-years CVD risk between the long-term cART group and the cART-naive group assessed by any of risk equations (all P>0.050). By multivariate logistic regression analysis, the risk factors associated with 10-year CVD risk ≥10% assessed by D: A: D[R] model were age≥50 years, smoking, hypertension, diabetes, dyslipidemia and CD4 + T lymphocyte count <200×10 6 cells/L (adjusted odds ratio ( AOR)=697.48, 4 622.28, 23.11, 25.95, 27.72 and 18.25, respectively, all P<0.010). The risk factors associated with 10-year CVD risk ≥10% assessed by FRS were age≥50 years, male, smoking, hypertension, diabetes and dyslipidemia ( AOR=53.51, 4.52, 36.93, 36.77, 6.15 and 3.84, respectively, all P<0.050). The risk factors associated with 10-year CVD risk ≥7.5% assessed by ASCVD risk score were age≥50 years, male, smoking, hypertension, diabetes ( AOR=18.48, 14.11, 14.81, 13.42 and 12.41, respectively, all P<0.050). Conclusions:Long-term cART has no significant effect on the 10-year CVD risk in HIV/AIDS patients. Higher CVD risk in HIV/AIDS patients are mainly associated with CD4 + T lymphocyte counts<200×10 6 cells/L and traditional CVD risk factors, including age≥50 years old, smoking, hypertension, diabetes and dyslipidemia.
7.Clinical characteristics and CBS gene analysis of 13 cases with classic homocystinuria
Dongxiao LI ; Zhehui CHEN ; Ying JIN ; Jinqing SONG ; Mengqiu LI ; Yupeng LIU ; Xiyuan LI ; Yongxing CHEN ; Yining ZHANG ; Guoyue LYU ; Liying SUN ; Zhijun ZHU ; Yao ZHANG ; Yanling YANG
Chinese Journal of Pediatrics 2022;60(6):533-538
Objective:To analyze the clinical features and CBS gene variants of 13 patients with classic homocystinuria, and the strategies of individual treatment and prevention were explored.Methods:The general information, clinical manifestations, laboratory tests, cranial images, CBS gene variants, diagnosis and therapeutic strategies of 13 patients with classic homocystinuria admitted to the Department of Pediatrics of Children′s Hospital Affiliated to Zhengzhou University and Peking University First Hospital from November 2013 to June 2021 were analyzed retrospectively.Results:There were 13 patients diagnosed at the age of 10 days to 14 years, 6 were male and 7 were female. There were 3 patients detected by newborn screening and received treatment at the asymptomatic stage. There were 10 patients clinically diagnosed at the age of 5 to 14 years. Their symptoms appeared at age of 1 to 6 years. The major clinical manifestations were marfanoid features, lens dislocation and (or) myopia, developmental delay, osteoporosis, and cardiovascular diseases. Brain magnetic resonance imaging showed asymmetric infarcts in 4 patients and hypomyelination in 1 case. Increased blood methionine, plasma total homocysteine and urinary total homocysteine with normal urinary methylmalonic acid were found in 13 patients. The biochemical features were consistent with classic homocystinuria. Totally 18 variants were identified in CBS gene of 13 patients, 10 variants were novel and 8 were reported. only 1 patient was partially responsive to vitamin B 6 treatment, while 12 cases were non-responsive. They were mainly treated with low methionine diet and betaine supplement. Three vitamin B 6 non-responsive cases received liver transplantation at age of 3, 8 and 8 years, respectively. Their blood methionine and total homocysteine returned to normal within a week after liver transplantation. One patient died. Prenatal diagnosis was performed for a fetus when the mother was pregnant again. Two pathogenic CBS gene variants were identified from the amniocytes as same as the proband. Conclusions:The clinical manifestations of classic homocystinuria are complex and variable. Blood amino acid analysis, serum or urine total homocysteine assay and gene analysis are critical for its diagnosis. There were 10 novel CBS gene varients were identified expanding the CBS gene varient spectrum. Liver transplantation is an effective treatment. Prenatal diagnosis is important to prevent classic homocysteinuria.
8.Characteristics and influencing factors of carotid ultrasound in 169 patients with human immunodeficiency virus/acquired immunodeficiency syndrome
Caihua MA ; Lei WANG ; Xue LIN ; Chunhui JIA ; Yanling LI ; Xiaojing SONG ; Yang HAN ; Zhifeng QIU ; Taisheng LI ; Wei LYU
Chinese Journal of Infectious Diseases 2021;39(3):145-151
Objective:To investigate the occurrence of carotid artery abnormalities in human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS) patients and the related risk factors affecting the occurrence of carotid artery abnormalities.Methods:A total of 169 regular follow-up outpatients with HIV/AIDS from April 2003 to December 2019 in Peking Union Medical College Hospital, whose carotid artery ultrasound examination were performed from July 2015 to December 2019 were included. The patients were divided into young (≤44 years old), middle-aged and elderly (≥45 years old) according to their ages, and the physical examination data of the included patients were collected.The statistical methods were logistic regression analysis and single sample t test. Results:Among the 169 HIV/AIDS patients, 40(23.7%) had abnormal carotid artery and 129(76.3%) had no abnormal carotid artery. Middle-aged and elderly people (odds ratio ( OR)=3.85, 95%confidence interval (95% CI) 1.54-9.65, P<0.01), hypertension ( OR=6.24, 95% CI 1.95-20.00, P<0.01), hyperlipidemia ( OR=2.44, 95% CI 1.00-5.93, P<0.05), and elevated human leucocyte antigen (HLA)-DR + CD8 + /CD8 + ( OR=1.03, 95% CI 1.01-1.06, P<0.05) were the risk factors for carotid artery abnormality. The common carotid artery inner medium film thickness (IMT) of patients in HIV/AIDS group Ⅰ (20 to 30 years old), group Ⅱ (31 to 40 years old), group Ⅲ (41 to 50 years old) were (0.061 0±0.001 2), (0.062 9±0.001 4) and (0.065 6±0.002 6) cm, respectively, which were thicker than the control groups ((0.051±0.003), (0.056±0.004) and (0.063±0.002) cm, respectively). The differences were all statistically significant ( t=5.119, 4.775 and 1.739, respectively, all P<0.05). The common carotid artery IMT of patients in HIV/AIDS group A (30 to 44 years old) and group B (45 to 59 years old) were (0.062 6±0.001 1) and (0.072 3±0.003 4) cm, respectively, which were thicker than the control groups ((0.052±0.011) and (0.064±0.015) cm, respectively), the differences were both statistically significant ( t=9.520 and 3.012, respectively, both P<0.01). Conclusion:Younger HIV-positive people have a higher probability of abnormal carotid arteries and may be at greater risk of cardiovascular disease than HIV-negative people of the same age, suggesting that HIV-positive people, especially young people, should be examined early with ultrasound of the neck arteries to detect abnormalities and intervene as soon as possible.
9.Effects of bio-strength electric field on the motility and CD9 expression of human epidermal cell line HaCaT and mouse epidermal cells
Ran JI ; Ze ZHANG ; Wenping WANG ; Qiong ZHANG ; Yanling LYU ; Xupin JIANG ; Miao TENG
Chinese Journal of Burns 2021;37(1):34-41
Objective:To investigate the regulatory effect of bio-strength electric field (EF) on the motility and CD9 expression of human epidermal cell line HaCaT and mouse epidermal cells.Methods:The experimental research method was used. Human immortal epidermal cell line HaCaT cells in logarithmic growth phase and primary epidermal cells isolated from 16 BALB/c mice (no matter male or female) aged 1-3 days were used for experiments. HaCaT cells were divided into EF group treated for 3 h at the EF intensity of 200 mV/mm and sham EF group with simulated treatment. The cell migration (direction, displacement velocity, and trajectory velocity, with 46 samples in EF group and 34 samples in sham EF group) and arrangement were observed in the living cell workstation, and the distribution and expression of CD9 protein were detected by immunofluorescence method. Both HaCaT cells and mouse epidermal cells were divided into sham EF group (simulated treatment) and EF groups treated respectively for 3 h at the corresponding EF intensity of 50, 100, 200, and 400 mV/mm. Both HaCaT cells and mouse epidermal cells were divided into blank control group without any treatment, and 1 h group, 3 h group, and 6 h group treated with EF at the intensity of 200 mV/mm for corresponding time respectively. The expression of CD9 protein was detected by Western blotting ( n=3). Data were statistically analyzed with Mann-Whitney U test, one-way analysis of variance, independent sample t test and least significant difference test. Results:Within 3 hours of treatment, HaCaT cells in EF group tended to move towards the negative electrode obviously, while HaCaT cells in sham EF group moved randomly around the origin; compared with those of sham EF group, the directivity of HaCaT cells in EF group was significantly enhanced, and the displacement velocity and trajectory velocity were significantly increased ( Z=-3.975, -6.052, -6.299, P<0.01). After 3 hours of treatment, the long axis of HaCaT cells in EF group was perpendicular to the direction of EF, while HaCaT cells in sham EF group arranged randomly. After 3 hours of treatment, the expression of CD9 protein in HaCaT cells in EF group was significantly down-regulated compared with that of sham EF group ( t=4.527, P<0.01), although both expressed on cytomembrane. After 3 hours of treatment, the expression of CD9 protein in HaCaT cells and mouse epidermal cells in sham EF group, 50 mV/mm group, 100 mV/mm group, 200 mV/mm group, and 400 mV/mm group were 0.332±0.021, 0.283±0.032, 0.254±0.020, 0.231±0.041, 0.212±0.031 and 0.565±0.021, 0.453±0.022, 0.389±0.020, 0.338±0.021, 0.233±0.011, respectively. For both types of cells, compared with that of sham EF group, the expression of CD9 protein in cells was significantly decreased in the four groups of EF treatment ( P<0.01); compared with that of 50 mV/mm group, the expression of CD9 protein in cells was significantly decreased in the other three groups of EF treatment ( P<0.01); compared with that of 100 mV/mm group, the expression of CD9 protein in cells was significantly decreased in 200 mV/mm group and 400 mV/mm group ( P<0.01); compared with that of 200 mV/mm group, the expression of CD9 protein in cells was significantly decreased in 400 mV/mm group ( P<0.01). The expression levels of CD9 protein in HaCaT cells and mouse epidermal cells in blank control group, 1 h group, 3 h group, and 6 h group were 0.962±0.031, 0.784±0.020, 0.531±0.021, 0.409±0.011 and 0.963±0.031, 0.872±0.031, 0.778±0.040, 0.591±0.041, respectively. For both types of cells, compared with that of blank control group, the expression of CD9 protein in cells was significantly decreased in 1 h group, 3 h group, and 6 h group ( P<0.01); compared with that of 1 h group, the expression of CD9 protein in cells was significantly decreased in 3 h group and 6 h group ( P<0.05 or P<0.01); compared with that of 3 h group, the expression of CD9 protein in cells was significantly decreased in 6 h group ( P<0.01). Conclusions:The bio-strength intensity EF can induce the directional migration and arrangement of HaCaT cells and down-regulate the expression of CD9 in HaCaT cells and mouse epidermal cells in a time-dependent and intensity-dependent manner.
10.Establishment of an auxiliary diagnosis system of newborn screening for inherited metabolic diseases based on artificial intelligence technology and a clinical trial
Rulai YANG ; Yanling YANG ; Ting WANG ; Weize XU ; Gang YU ; Jianbin YANG ; Qiaoling SUN ; Maosheng GU ; Haibo LI ; Dehua ZHAO ; Juying PEI ; Tao JIANG ; Jun HE ; Hui ZOU ; Xinmei MAO ; Guoxing GENG ; Rong QIANG ; Guoli TIAN ; Yan WANG ; Hongwei WEI ; Xiaogang ZHANG ; Hua WANG ; Yaping TIAN ; Lin ZOU ; Yuanyuan KONG ; Yuxia ZHOU ; Mingcai OU ; Zerong YAO ; Yulin ZHOU ; Wenbin ZHU ; Yonglan HUANG ; Yuhong WANG ; Cidan HUANG ; Ying TAN ; Long LI ; Qing SHANG ; Hong ZHENG ; Shaolei LYU ; Wenjun WANG ; Yan YAO ; Jing LE ; Qiang SHU
Chinese Journal of Pediatrics 2021;59(4):286-293
Objective:To establish a disease risk prediction model for the newborn screening system of inherited metabolic diseases by artificial intelligence technology.Methods:This was a retrospectively study. Newborn screening data ( n=5 907 547) from February 2010 to May 2019 from 31 hospitals in China and verified data ( n=3 028) from 34 hospitals of the same period were collected to establish the artificial intelligence model for the prediction of inherited metabolic diseases in neonates. The validity of the artificial intelligence disease risk prediction model was verified by 360 814 newborns ' screening data from January 2018 to September 2018 through a single-blind experiment. The effectiveness of the artificial intelligence disease risk prediction model was verified by comparing the detection rate of clinically confirmed cases, the positive rate of initial screening and the positive predictive value between the clinicians and the artificial intelligence prediction model of inherited metabolic diseases. Results:A total of 3 665 697 newborns ' screening data were collected including 3 019 cases ' positive data to establish the 16 artificial intelligence models for 32 inherited metabolic diseases. The single-blind experiment ( n=360 814) showed that 45 clinically diagnosed infants were detected by both artificial intelligence model and clinicians. A total of 2 684 cases were positive in tandem mass spectrometry screening and 1 694 cases were with high risk in artificial intelligence prediction model of inherited metabolic diseases, with the positive rates of tandem 0.74% (2 684/360 814)and 0.46% (1 694/360 814), respectively. Compared to clinicians, the positive rate of newborns was reduced by 36.89% (990/2 684) after the application of the artificial intelligence model, and the positive predictive values of clinicians and artificial intelligence prediction model of inherited metabolic diseases were 1.68% (45/2 684) and 2.66% (45/1 694) respectively. Conclusion:An accurate, fast, and the lower false positive rate auxiliary diagnosis system for neonatal inherited metabolic diseases by artificial intelligence technology has been established, which may have an important clinical value.

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