1.Constructing a model of degenerative scoliosis using finite element method:biomechanical analysis in etiology and treatment
Kai HE ; Wenhua XING ; Shengxiang LIU ; Xianming BAI ; Chen ZHOU ; Xu GAO ; Yu QIAO ; Qiang HE ; Zhiyu GAO ; Zhen GUO ; Aruhan BAO ; Chade LI
Chinese Journal of Tissue Engineering Research 2025;29(3):572-578
BACKGROUND:Degenerative scoliosis is defined as a condition that occurs in adulthood with a coronal cobb angle of the spine>10° accompanied by sagittal deformity and rotational subluxation,which often produces symptoms of spinal cord and nerve compression,such as lumbar pain,lower limb pain,numbness,weakness,and neurogenic claudication.The finite element method is a mechanical analysis technique for computer modelling,which can be used for spinal mechanics research by building digital models that can realistically restore the human spine model and design modifications. OBJECTIVE:To review the application of finite element method in the etiology and treatment of degenerative scoliosis. METHODS:The literature databases CNKI,PubMed,and Web of Science were searched for articles on the application of finite element method in degenerative scoliosis published before October 2023.Search terms were"finite element analysis,biomechanics,stress analysis,degenerative scoliosis,adult spinal deformity"in Chinese and English.Fifty-four papers were finally included. RESULTS AND CONCLUSION:(1)The biomechanical findings from the degenerative scoliosis model constructed using the finite element method were identical to those from the in vivo experimental studies,which proves that the finite element method has a high practical value in degenerative scoliosis.(2)The study of the etiology and treatment of degenerative scoliosis by the finite element method is conducive to the prevention of the occurrence of the scoliosis,slowing down the progress of the scoliosis,the development of a more appropriate treatment plan,the reduction of complications,and the promotion of the patients'surgical operation.(3)The finite element method has gradually evolved from a single bony structure to the inclusion of soft tissues such as muscle ligaments,and the small sample content is increasingly unable to meet the research needs.(4)The finite element method has much room for exploration in degenerative scoliosis.
2.Predicting Postoperative Motor Function in High-risk Glioma Based on The Morphology Change of Motor Fiber Tracts
Qiang MA ; Song-Lin YU ; Chu-Yue ZHAO ; Xi-Jie WANG ; Song LIN ; Zhen-Tao ZUO ; Tao YU
Progress in Biochemistry and Biophysics 2025;52(4):1018-1026
ObjectiveGliomas in the motor functional area can damage the corticospinal tract (CST), leading to motor dysfunction. Currently, there is a lack of unified methods for evaluating the extent of CST damage, especially in patients with high surgical risk where the minimum distance from the lesion to the CST is less than 10 mm. This study aims to further clarify the classification method and clinical significance of CST morphological changes in these patients. MethodsThis retrospective study analyzed 109 high-risk functional area glioma patients who underwent neurosurgical treatment with preoperative diffusion tensor imaging (DTI) imaging and intraoperative neurostimulation guidance between 2014 and 2024. All patients had a lesion-to-tract distance (LTD) of less than 10 mm between the CST and the lesion. Preoperative DTI evaluation of CST involvement-induced morphological changes were reviewed. Patients were divided into 3 groups: 17 cases (15.6%) with symmetric CST morphology compared to the healthy side (CST symmetry), 48 cases (44.0%) with significant CST morphology changes compared to the healthy side (CST deformation), and 44 cases (40.4%) with CST overlap with the tumor (CST overlap). Then we classified patients according to preoperative assessment of tumor-induced morphological changes, and analyze postoperative motor function for each category. ResultsPostoperative pathology showed a significantly higher proportion of high-grade gliomas (HGG) in the CST overlap group compared to the other two groups (P=0.001). Logistic regression analysis showed that CST overlap was a predictor of HGG (P=0.000). The rate of total tumor resection in the CST deformation group and overlap group was lower than in the CST symmetric group (P=0.008). There was a total of 41 postoperative hemiplegic patients, with 4 cases (23.5%) in the CST symmetric group, 11 cases (22.9%) in the CST deformation group, and 26 cases (59.1%) in the CST overlap group. CST overlap with the tumor predicted postoperative hemiplegia (P=0.016). Two-way ANOVA analysis of the affected/healthy side and CST morphology groups showed significant main effects of CST grouping and healthy-affected side (P=0.017 and P=0.010), with no significant interaction (P=0.31). The fractional anisotropy (FA) value in the CST overlap group and the affected side was lower. A decrease in the FA value on the affected side predicted postoperative hemiplegia (sensitivity 69.2%, specificity 71.9%). ConclusionWe have established a method to predict postoperative hemiplegia in high-risk motor functional area glioma patients based on preoperative CST morphological changes. CST overlap leads to a decrease in CST FA values. This method can be used for precise patient management and aid in accurate preoperative surgical planning.
3. Preparation of tripterygium glycoside nanoparticles and therapeutic effect on arthritis rats
Zhi-Rong WANG ; Man LI ; Zhen-Qiang ZHANG ; Min YAN ; Xiang-Xiang WU ; Hua-Hui ZENG
Chinese Pharmacological Bulletin 2024;40(1):125-132
Aim To prepare tripterygium glycoside nanoparticles and probe into their therapeutic effect on collagen-induced arthritis ( CIA) rats. Methods Tripterygium glycosides polyglycoside nanoparticles were prepared by thin film dispersion method and their quality was assessed. The CIA model was established and drug intervention performed. The body weight, toe swelling degree and arthritis index were measured. The pathological changes of the organs, knee and ankle synovium were observed. The serum levels of kidney function and inflammatory cytokine expression were detected in rats. Results The prepared tripterygium wil-fordii polyglycoside nanoparticles were round particles with uniform distribution and stable properties under electron microscope. Compared with the model group, the swelling of the left and right toes of medication group significantly decreased (P < 0. 01), and the ar-thritis index markedly decreased ( P < 0. 01). Among them, the efficacy of the TG-NPs group was better than that of the TG group. Compared with the normal group, the indexes of heart, spleen, kidney and testis all significantly decreased (P <0. 05, P<0.01). TG-NPs group had a significantly reduced pathological ankle-joint injury in knee cartilage and increased apoptotic synovial cells. Compared with the model group, the serum levels of ALT and BUN and CRE in TG-NPs group were significantly lower (P < 0. 05 ), and IL-1β, TNF-α and IL-6 levels decreased significantly (P <0. 05). Conclusions TG-NPs have good therapeutic effect on CIA through induction of synovial cell apoptosis and decrease of the expression of inflammatory cytokines. By intravenous injection of blood circula-tion, slow and controlled release of drugs can be achieved, the first pass effect caused by oral drug can be avoided, the viscera toxicity can be reduced, which provides an experimental basis for the development of new nanoagents for the treatment of rheumatoid arthritis.
4.Catalpol from Rehmannia glutinosa regulates senescence in ATDC5 chondrocytes
Ruiying JIA ; Jie MEI ; Qiang HE ; Dan LI ; Xin SUN ; Weiqing QIAN ; Zhen LIU
Chinese Journal of Tissue Engineering Research 2024;28(34):5467-5472
BACKGROUND:The results of in vivo and in vitro studies showed that catalpol from Rehmannia glutinosa can significantly reduce the level of inflammatory indexes in the synovial tissue of rats with knee osteoarthritis,and meanwhile,it can delay the progression of knee osteoarthritis.But whether catalpol from Rehmannia glutinosa affects chondrocyte senescence and then delay the progression of knee osteoarthritis has not yet been clarified. OBJECTIVE:To investigate investigate whether catalpol from Rehmannia glutinosa could regulate ATDC5 chondrocyte senescence and the possible mechanisms. METHODS:ATDC5 chondrocytes were divided into blank group(0.1%bovine serum albumin),model group(0.1%bovine serum albumin+1 μmol/L adriamycin),low-dose catalpol group(0.1%bovine serum albumin+1 μmol/L adriamycin+20 μmol/L catalpol from Rehmannia glutinosa)and high-dose catalpol group(0.1%bovine serum albumin+1 μmol/L adriamycin+80 μmol/L catalpol from Rehmannia glutinosa).Adriamycin-induced ATDC5 chondrocyte senescence model was constructed,and the corresponding treatments were given according to the above groups.Cell counting kit-8 assay was used to detect the effects of catalpol from Rehmannia glutinosa on ATDC5 chondrocyte viability,and to screen the optimal concentration of catalpol from Rehmannia glutinosa.The senescence of ATDC5 chondrocytes in each group was detected by β-galactosidase staining after the corresponding treatments.Real-time fluorescence quantitative PCR and western blot were used to detect the mRNA and protein expression of P21,P53,type II collagen,matrix metalloproteinase 13,and interleukin-6.Immunofluorescence method was used to detect the expression of P21,P53 and type II collagen.Flow cytometry was used to detect apoptosis in each group. RESULTS AND CONCLUSION:ATDC5 chondrocytes were identified to be successfully induced and senescence model was induced.Catalpol from Rehmannia glutinosa at the concentrations of 0,20,40,and 80 μmol/L showed no significant effects on the cell viability,suggesting that catalpol from Rehmannia glutinosa is non-cytotoxic and can be used safely(P>0.05);when the concentration was≥100 μmol/L,the cell viability was reduced,suggesting that there may be cytotoxic.Therefore,80 μmol/L was chosen as the high dose for subsequent experiments in this study.The percentage of positive cells in the model group was(86.93±2.18)%,which was significantly higher than that in the blank group[(17.32±0.72)%;P<0.05].Compared with the model group,the percentage of positive cells was significantly lower in the low-and high-dose catalpol groups[(57.28±1.73)%and(27.18±0.97)%,respectively;both P<0.05].Compared with the model group,the relative expression of P21,P53,matrix metalloproteinase 13,and interleukin-6 at mRNA and protein levels was significantly downregulated in the low-and high-dose catalpol groups,while the relative expression of type II collagen at mRNA and protein levels was significantly upregulated in both groups(P<0.05),especially in the high-dose catalpol group(P<0.05).Compared with the model group,the fluorescence intensities of P21 and P53 were significantly weakened in the low-and high-dose catalpol groups,while the fluorescence intensity of type II collagen was significantly enhanced in the low-and high-dose catalpol groups(P<0.05),especially in the high-dose catalpol group(P<0.05).The cell apoptosis detected by Annexin V/PI method showed that there was no significant difference between the model group and the blank group(P>0.05);compared with the model group,the apoptotic index was significantly elevated in the low-and high-dose catalpol groups,especially in the high-dose catalpol group(P<0.05).To conclude,catalpol from Rehmannia glutinosa can slow the progression of osteoarthritis by promoting apoptosis of senescent ATDC5 chondrocytes,further removing senescent ATDC5 chondrocytes,and decreasing the senescence-associated phenotypes.
5.Construction and validation of a scoring model for pathogen characteristics and short-term prognosis risk prediction of candidemia
Jian-Xin MA ; Xiao-Qiang LIN ; Ming-Chi CAI ; Yu-Zhen XU ; Jun PENG ; Sheng-Qiang LIANG
Medical Journal of Chinese People's Liberation Army 2024;49(3):280-287
Objective To analyze the pathogenic characteristics and drug sensitivity of candidaemia,and construct a short-term mortality risk prediction scoring model.Methods The clinical data of patients with candidaemia admitted to the 909 Hospital of Joint Logistics Support Force from January 2011 to December 2020 were retrospectively analyzed,and the composition of pathogen composition,drug sensitivity test results and incidence of hospitalized patients were analyzed.324 cases of candidaemia were randomly divided into modeling group(190 cases)and validation group(134 cases),and the risk factors were screened by binary logistic regression.According to the odds ratio(OR)score,the 30 day mortality risk prediction scoring model was constructed,and the predictive performance of the model was verified both in modeling and validation groups.Results 356 strains of Candida including 126 strains of C.albicans(35.39%),79 strains of C.tropicalis(22.19%),74 strains of C.parapsilosis(20.79%),48 strains of C.glabrata(13.48%),14 strains of C.guilliermondii(3.93%),8 strains of C.krusei(2.25%),and 7 strains of other Candida(1.97%)were detected in 336 patients with candidemia.The incidence of candidaemia among hospitalized patients increased from 0.20 ‰ in 2011 to 0.48 ‰ in 2020.The resistance rate of candida to amphotericin B was significantly lower than that of fluconazole,voriconazole and itraconazole(P<0.05).Among the 324 cases included in the model,95 patients died in 30 days after diagnosis,and the mortality rate was 29.32%.The proportion of males,fever,and parenteral nutrition in modeling group was significantly higher than that in validation group(P<0.05),while the proportion of chronic lung disease and surgical history within one month were lower than those in validation group(P<0.05).Logistic regression analysis showed that chronic renal failure,mechanical ventilation,severe neutropenia,failure to receive anti-fungal treatment within 72 hours,and APACHE Ⅱ≥20 were risk factors for short-term death of candidaemia,the OR values were 3.179,1.970,2.979,2.080,and 2.399,and the risk scores were 6,4,6,4,and 5,respectively.The area under the curve(AUC)of the risk scoring model for modeling group was 0.792(95%CI 0.721-0.862),and the result of Hosmer-Lemeshow(H-L)test was P=0.305;The AUC of validation group was 0.796(95%CI 0.735-0.898),and the H-L test result was P=0.329.A risk score≤8 indicated a low risk group for short-term mortality,a score of 9-15 indicated a medium risk group,and a score≥16 indicated a high risk group.Conclusions The incidence of candidemia in hospitalized patients is increasing and the mortality is high.The risk prediction score model can effectively predict the short-term prognosis and facilitate the early identification of the prognosis.
6.Prevalence of work-related musculoskeletal disorders in neck and shoulder among workers in pharmaceutical and chemical enterprises
GUO Zhen ; ZHU Binbin ; HE Xiaoqing ; CHEN Qiang
Journal of Preventive Medicine 2024;36(6):527-531
Objective:
To investigate the prevalence and influencing factors of work-related musculoskeletal disorders (WMSDs) in neck and shoulder among workers in pharmaceutical and chemical enterprises, so as to provide the basis for prevention of WMSDs.
Methods:
Workers in 8 pharmaceutical and chemical enterprises in Jinhua City, Zhejiang Province from July to October 2023 were sampled using a stratified random sampling method, and demography, work conditions and WMSDs prevalence were collected using questionnaire surveys. Factors affecting WMSDs in neck and shoulder were analyzed using a multivariable logistic regression model.
Results:
A total of 1 343 workers were surveyed, including 496 males (36.93%) and 847 females (63.07%). The mean age of workers was 38 (15) years, and the length of service in current posts was 6 (8) years. There were 356 workers with WMSDs (26.51%), with 206 workers with neck WMSDs (15.34%) and 167 workers with shoulder WMSDs (12.43%). Multivariable logistic regression analysis showed that gender (female, OR=1.692, 95%CI: 1.203-2.381), sufficient rest time (OR=0.660, 95%CI: 0.471-0.926) and maintaining same neck posture for a long time (OR=1.690, 95%CI: 1.148-2.510) were factors affecting neck WMSDs; gender (female, OR=1.572, 95%CI: 1.060-2.311), sufficient rest time (OR=0.619, 95%CI: 0.422-0.906), repetitive daily work (OR=1.678, 95%CI: 1.064-2.647), uncomfortable work posture (OR=3.791, 95%CI: 1.330-10.803), multiple repetitive movements per minute (OR: 1.988-2.413, 95%CI: 1.060-4.161) and maintaining same neck posture for a long time (OR=1.926, 95%CI: 1.218-3.043) were factors affecting shoulder WMSDs.
Conclusion
The prevalence of WMSDs in neck and shoulder are high among workers in pharmaceutical and chemical enterprises in Jinhua City, and mainly affected by gender, rest time and adverse ergonomics.
7.Clinical trial of cattle encephalon glycoside and ignotin injection combined with reduced glutathione and levodopa and benserazide hydrochloride tablets in the treatment of elderly patients with Parkinson's disease
Ting-Zhen ZANG ; Dan-Dan HAO ; De-Qiang KANG ; Yu-Fu WU
The Chinese Journal of Clinical Pharmacology 2024;40(9):1257-1261
Objective To observe the clinical efficacy and safety of cattle encephalon glycoside and ignotin injection combined with reduced glutathione injection and levodopa and benserazide hydrochloride tablets in the treatment of elderly patients with Parkinson's disease complicated with mild cognitive impairment(PD-MCI).Methods Elderly patients with PD-MCI were randomly divided into control group and treatment group.Two groups were treated with levodopa and benserazide hydrochloride tablet for anti-Parkinson's disease therapy,and on this basis,the control group was given intravenous drip of reduced glutathione 1.2 g(qd),and the treatment group was given intravenous drip of cattle encephalon glycoside and ignotin injection 10 mL(qd)on the basis of the control group.Both groups of patients were treated continuously for 4 weeks.The clinical efficacy,serum regulated upon activation,normal T cell expressed and secreted(RANTES),α-synuclein(α-syn),brain-derived neurotrophic factor precursor protein(pro-BDNF),catalase(CAT),total superoxide dismutase(T-SOD),cognitive function and quality of life were compared between both groups,and the adverse drug reactions were observed.Results In treatment group,48 cases were enrolled but 3 cases were lost,thus 45 cases were finally included in the analysis.In control group,48 cases were enrolled but 6 cases were lost,thus 42 cases were included in the analysis.After treatment,the total effective rates in treatment and control groups were 93.33%(42 cases/45 cases)and 76.19%(32 cases/42 cases)respectively(P<0.05).After treatment,RANTES levels in treatment group and control group were(25.57±4.62)and(30.29±4.92)pg·mL-1;α-syn levels were(3.08±0.76)and(3.74±1.09)μg·L-1;pro-BDNF levels were(144.65±17.54)and(182.26±15.75)ng·mL-1;CAT levels were(168.54±10.64)and(160.48±9.74)kU·L-1;T-SOD levels were(123.75±20.54)and(110.18±22.66)kU·L-1;Montreal Cognitive Assessment Scale scores were(25.08±2.75)and(23.14±2.64)points;and 39-item Parkinson's Disease Quality of Life Questionnaire scores were(45.84±8.42)and(50.34±7.62)points,respectively.The differences of above indexes were statistically significant between two groups(all P<0.05).The adverse drug reactions in treatment group were arrhythmia,dizziness,chills and gastrointestinal discomfort.The adverse drug reactions in control group were transient thrombocytopenia and arrhythmia.The total incidences of adverse drug reactions in treatment group and control group were 8.89%and 4.76%wthout significant difference(P>0.05).Conclusion Cattle encephalon glycoside and ignotin injection combined with reduced glutathione injection and levodopa and benserazide hydrochloride tablets has exact clinical efficacy in the treatment of elderly patients with PD-MCI,and it can significantly enhance the neuroprotective and antioxidant effects and improve the cognitive function and quality of life of patients,and it does not increase the incidence rate of adverse drug reactions.
8.Liuwei Dihuang Pills-elicited inhibition of MMP-2/MMP-9 via RAGE on tight junction protein of Aβ1-40-injured bEnd.3 cells
Rui DING ; Yong YUAN ; Ya-Quan JIA ; Ai-She GAO ; Zhen-Qiang ZHANG ; Jun-Ying SONG
Chinese Traditional Patent Medicine 2024;46(2):424-430
AIM To investigate the protective effects and the mechanism of the Liuwei Dihuang Pills on mouse brain microvascular endothelial(bEnd.3)cells damaged by β-Amyloid protein1-40(Aβ1-40).METHODS CCK8 method was used to detect the effects of Aβ1-40 and medicated serum of Liuwei Dihuang Pills(MSLDP)on cell activity,and to screen the appropriate concentration.bEnd.3 cells of the control group,the Aβ1-40 group,the MSLDP+Aβ1-40 group and the MSLDP group had their low density lipoprotein-associated protein 1(LRP1),receptor for advanced glycation end products(RAGE),matrix metalloproteinase-2(MMP-2),MMP-9,scaffold protein zonule protein-1(ZO-1)detected by Western blot.bEnd.3 cells assigned into the control group,the Aβ1-40 group,the FPS-ZM1(RAGE inhibitor)+Aβ1-40 group and the FPS-ZM1+Aβ1-40+MSLDP group had their expressions of RAGE,MMP-9,MMP-2 and ZO-1 detected by Western blot as well.RESULTS The cell activity of bEnd.3,was dose-dependently decreased by Aβ1-40(P<0.01),but was protected by MSLDP(P<0.05,P<0.01).And 10 μmol/L Aβ1-40 and 10%MSLDP were selected for subsequent experiments.Compared with the control group,the Aβ1-40 group displayed increased protein expressions of RAGE,MMP-2 and MMP-9(P<0.01),decreased protein expressions of LRP1,ZO-1 and BDNF(P<0.05,P<0.01),and decreased fluorescence intensities of LRP1 and ZO-1(P<0.01).Compared with the Aβ1-40 group,the MSLDP group shared decreased expressions of RAGE,MMP-2,MMP-9 proteins and RAGE fluorescence intensity(P<0.05,P<0.01),and increased expressions of LRP1,ZO-1 and BDNF proteins,and the fluorescence intensity of LRP1 and ZO-1(P<0.05,P<0.01);the Aβ1-40+FPS-ZM1 group displayed decreased protein expressions of MMP-2,MMP9 and RAGE(P<0.05,P<0.01),and increased ZO-1 protein expression(P<0.05);and the Aβ1-40+FPS-ZM1+ MSLDP group displayed an even more decreased protein expressions of MMP-2,MMP9 and RAGE(P<0.01),increased ZO-1 protein expression(P<0.01)due to the the combination use of FPS-ZM1 and MSLDP.CONCLUSION Liuwei Dihuang Pills can protect the tight junction of bEnd.3 injured by Aβ1-40 and neurovascular units from Alzheimer's disease by alleviating the dysfunction of the blood-brain barrier via RAGE-mediated MMP-2/MMP-9 pathway inhibition.
9.Feasibility of robot-assisted radical prostatectomy in the surgical treatment of prostate cancer without biopsy
Qiang FU ; Zhenye SUN ; Zhen YAO ; He WANG
Journal of Modern Urology 2024;29(9):771-775
Objective To explore the feasibility of robot-assisted radical prostatectomy(RARP)in the treatment of highly suspected prostate cancer without biopsy,in order to provide reference for clinical practice.Methods This study included 82 patients with highly suspected prostate cancer treated in our hospital during Jan.2021 and Dec.2022.The patients were divided into the puncture group(n=41)and non-puncture group(n=41)with random number table method.All patients underwent RARP.Biopsy was performed before operation in the puncture group while no biopsy was performed in the non-puncture group.The main outcome indicators(diagnostic accuracy,complications,hospital stay,hospital costs,urinary control rate)and secondary outcome indicators(operation time,intraoperative blood loss,number of blood transfusion,catheter indwelling time,positive incisal margin,anxiety and depression scores before and after treatment)were compared between the two groups.Results All 41 cases(100%)in the puncture group were prostate cancer,and 40 cases(97.56%)in the no-puncture group were pathologically confirmed as prostate cancer.The non-puncture group had significantly lower perioperative complication rate(19.52%vs.2.50%),shorter operation time[(75.31±20.35)min vs.(60.25±10.64)min],less intraoperative blood loss[(141.25±30.45)mL vs.(111.45±33.58)mL],shorter hospital stay[(7.89±1.21)d vs.(5.13±1.02)d],lower total hospital costs[(4.12±0.56)ten thousand yuan vs.(2.61±0.43)ten thousand yuan],and lower anxiety and depression scores[(7.02±1.25)vs.(1.99±0.42);(7.05±1.31)vs.(1.95±0.38)](P<0.05).The no-puncture group had slightly higher urinary control rate 1,6 and 12 months after treatment than the puncture group(75.00%vs.58.54%;87.50%vs.80.49%;95.00%vs.92.68%),but with no statistical significance(P>0.05).Conclusion RARP is feasible in the surgical treatment of prostate cancer without biopsy,which can shorten the postoperative rehabilitation time,reduce the hospital costs,and alleviate the anxiety and depression of patients.
10.Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China
Chuan ZHANG ; Ling HUI ; Bing-Bo ZHOU ; Lei ZHENG ; Yu-Pei WANG ; Sheng-Ju HAO ; Zhen-Qiang DA ; Ying MA ; Jin-Xian GUO ; Zong-Fu CAO ; Xu MA
Chinese Journal of Contemporary Pediatrics 2024;26(1):67-71
Objective To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder(IMD)among neonates in Gansu Province of China.Methods A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021.A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination.Results A total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates,and the overall prevalence rate of IMD was 0.63‰(1/1 593),among which phenylketonuria showed the highest prevalence rate of 0.32‰(1/3 083),followed by methylmalonic acidemia(0.11‰,1/8 959)and tetrahydrobiopterin deficiency(0.06‰,1/15 927).In this study,166 variants were identified in the 28 pathogenic genes,with 13 novel variants found in 9 genes.According to American College of Medical Genetics and Genomics guidelines,5 novel variants were classified as pathogenic variants,7 were classified as likely pathogenic variants,and 1 was classified as the variant of uncertain significance.Conclusions This study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.


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