1.Mechanism of Different Dosage Forms of Kaixinsan in Improving Mitochondrial Function for Prevention and Treatment of Cognitive Disorder Based on AMPK/PGC-1α/SIRT3 Pathway
Shuyue KANG ; Yanzi YU ; Jiaqun SUN ; Wenxuan CHEN ; Yaqin YANG ; Qi WANG ; Weirong LI ; Limei YAO
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(7):15-24
ObjectiveTo explore the effects of different dosage forms of Kaixinsan (KXS) on the morphology and function of mitochondria in rat models of Alzheimer's disease (AD) and potential mechanisms of action. MethodsMale SD rats were randomly assigned to a sham group, model group, treatment groups receiving KXS decoction, powders, and granules (3.08 g·kg-1), as well as donepezil group (0.51×10-3 g·kg-1), with 10 rats in each group. AD model was created using intracerebroventricular injection of streptozocin (STZ). After 30 days of administration, behavioral assessments were conducted, and mitochondrial morphology was observed using transmission electron microscopy. Mitochondrial respiratory chain complex content was measured via enzyme-linked immunosorbent assay (ELISA). Changes in mitochondrial membrane potential were measured via JC-1 staining, and superoxide dismutase (SOD) activity and reactive oxygen species (ROS) levels were measured via biochemical assays. The mRNA expression of adenosine 5'-monophosphate-activated protein kinase (AMPK), peroxisome proliferator-activated receptor gamma coactivator-1α (PGC-1α), and silent information regulator 3 (SIRT3) was detected by real-time fluorescent quantitative polymerase chain reaction (Real-time PCR), and Western blot was used to examine the protein expression levels of optic atrophy protein1 (OPA1), mitochondrial fission protein 1 (FIS1), AMPK, p-AMPK, PGC-1α, and SIRT3. ResultsCompared with the sham group, rats in the model group had significantly lower recognition index, spontaneous alternation rate, escape latency, number of platform crossings, time spent in the target quadrant, and percentage of distance traveled in the target quadrant distance (P<0.05, P<0.01). Significant mitochondrial damage was observed in the hippocampal tissue, with a marked decrease in mitochondrial respiratory chain complex content (P<0.01) and reduced mitochondrial membrane potential (P<0.05). Additionally, the SOD activity was reduced, while ROS levels were elevated (P<0.01). The mRNA expression of PGC-1α and SIRT3 was significantly downregulated (P<0.01), along with decreased protein expression levels of OPA1, p-AMPK/AMPK, PGC-1α, and SIRT3, whereas FIS1 protein expression was significantly upregulated (P<0.05, P<0.01). Compared with the model group, rats in KXS-treated groups (various dosage forms) showed significant improvement in behavioral indexes (P<0.05, P<0.01), reduced hippocampal mitochondrial damage, and more organized mitochondrial cristae. Mitochondrial respiratory chain complex content was significantly increased (P<0.05, P<0.01), and mitochondrial membrane potentials were elevated (P<0.05). SOD activity was elevated, and ROS levels were significantly reduced (P<0.05, P<0.01). Furthermore, the mRNA expression of PGC-1α and SIRT3 was upregulated, with increased protein levels of OPA1, p-AMPK/AMPK, PGC-1α, and SIRT3, while FIS1 protein expression levels were significantly reduced (P<0.05, P<0.01). Across the KXS-treated groups, the granule group showed a higher spontaneous alternation rate than the decoction and powder groups (P<0.05). ConclusionKXS decoction, powders, and granules can improve the learning and memory ability of rats, with granules being the most effective. The mechanism of action may involve activation of the AMPK/PGC-1α/SIRT3 signaling pathway, improvement of the mitochondrial function, and subsequent amelioration of the brain energy metabolism disorders.
2.Influence of self-esteem, alexithymia and alienation on non-suicidal self-injury behaviors in adolescents
Chunxing XU ; Hongzheng LI ; Yongcai MENG ; Yuqing ZHANG ; Meng LI ; Yaomu ZHANG ; Yaqin WANG
Sichuan Mental Health 2025;38(1):65-70
BackgroundIn recent years, the incidence of non-suicidal self-injury (NSSI) behaviors among adolescents has been increasing annually. Self-esteem and alexithymia are strongly associated with NSSI behaviors, and alienation is closely linked to both self-esteem and alexithymia. However, there is limited research on the relationship between alienation and NSSI behaviors among adolescents in China. ObjectiveTo analyze the relationship between alienation and NSSI behaviors among adolescents, and to explore the factors influencing NSSI behaviors in this population, so as to provide insights for the prevention and treatment of NSSI behaviors in adolescents. MethodsAdolescents admitted to the Department of Psychiatry and Psychology at the 923rd Hospital of the Joint Logistics Support Force of the Chinese People's Liberation Army from September 1, 2021 to March 1, 2023, who met the diagnostic criteria for NSSI in the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5), were selected as the study group (n=60). Concurrently, middle school students from Nanning were recruited as the control group (n=60). Participants were assessed using Adolescent Self Harm Scale (ASHS), Rosenberg Self-Esteem Scale (RSES), Toronto Alexithymia Scale (TAS) and Adolescent Students′ Alienation Scale (ASAS). Pearson correlation analysis was employed to examine the relationships between scale scores in the study group, and Logistic regression analysis was used to identify the influencing factors of NSSI behaviors among adolescents. ResultsThe RSES score of the study group was significantly lower than that of the control group (t=-7.033, P<0.01). The TAS and ASAS scores of the study group were significantly higher than those of the control group (t=5.591, 8.124, P<0.01). The ASHS score was negatively correlated with RSES score (r=-0.410, P<0.01) and positively correlated with ASAS score (r=0.555, P<0.01). The RSES scores of the study group were negatively correlated with TAS and ASAS scores (r=-0.317, -0.590, P<0.05 or 0.01). Logistic regression analysis showed that being female (OR=0.714, 95% CI: 0.042~0.709) was a protective factor for NSSI behaviors among adolescents, while high alienation (OR=1.028, 95% CI: 1.013~1.043) and residing in rural areas (OR=6.692, 95% CI: 2.038~21.967) were risk factors for NSSI behaviors among adolescents. ConclusionAlienation was positively correlated with NSSI behaviors in adolescents. Female adolescents had a lower risk of NSSI behaviors, while those with higher levels of alienation or residing in rural areas were more prone to NSSI behaviors. [Funded by Self-financed Scientific Research Project of the Health Commission of Guangxi Zhuang Autonomous Region (number, Z20210656); Self-financed Scientific Research Project of the Health Commission of Guangxi Zhuang Autonomous Region (number, Z-A20231057)]
3.Mechanism of Different Dosage Forms of Kaixinsan in Improving Mitochondrial Function for Prevention and Treatment of Cognitive Disorder Based on AMPK/PGC-1α/SIRT3 Pathway
Shuyue KANG ; Yanzi YU ; Jiaqun SUN ; Wenxuan CHEN ; Yaqin YANG ; Qi WANG ; Weirong LI ; Limei YAO
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(7):15-24
ObjectiveTo explore the effects of different dosage forms of Kaixinsan (KXS) on the morphology and function of mitochondria in rat models of Alzheimer's disease (AD) and potential mechanisms of action. MethodsMale SD rats were randomly assigned to a sham group, model group, treatment groups receiving KXS decoction, powders, and granules (3.08 g·kg-1), as well as donepezil group (0.51×10-3 g·kg-1), with 10 rats in each group. AD model was created using intracerebroventricular injection of streptozocin (STZ). After 30 days of administration, behavioral assessments were conducted, and mitochondrial morphology was observed using transmission electron microscopy. Mitochondrial respiratory chain complex content was measured via enzyme-linked immunosorbent assay (ELISA). Changes in mitochondrial membrane potential were measured via JC-1 staining, and superoxide dismutase (SOD) activity and reactive oxygen species (ROS) levels were measured via biochemical assays. The mRNA expression of adenosine 5'-monophosphate-activated protein kinase (AMPK), peroxisome proliferator-activated receptor gamma coactivator-1α (PGC-1α), and silent information regulator 3 (SIRT3) was detected by real-time fluorescent quantitative polymerase chain reaction (Real-time PCR), and Western blot was used to examine the protein expression levels of optic atrophy protein1 (OPA1), mitochondrial fission protein 1 (FIS1), AMPK, p-AMPK, PGC-1α, and SIRT3. ResultsCompared with the sham group, rats in the model group had significantly lower recognition index, spontaneous alternation rate, escape latency, number of platform crossings, time spent in the target quadrant, and percentage of distance traveled in the target quadrant distance (P<0.05, P<0.01). Significant mitochondrial damage was observed in the hippocampal tissue, with a marked decrease in mitochondrial respiratory chain complex content (P<0.01) and reduced mitochondrial membrane potential (P<0.05). Additionally, the SOD activity was reduced, while ROS levels were elevated (P<0.01). The mRNA expression of PGC-1α and SIRT3 was significantly downregulated (P<0.01), along with decreased protein expression levels of OPA1, p-AMPK/AMPK, PGC-1α, and SIRT3, whereas FIS1 protein expression was significantly upregulated (P<0.05, P<0.01). Compared with the model group, rats in KXS-treated groups (various dosage forms) showed significant improvement in behavioral indexes (P<0.05, P<0.01), reduced hippocampal mitochondrial damage, and more organized mitochondrial cristae. Mitochondrial respiratory chain complex content was significantly increased (P<0.05, P<0.01), and mitochondrial membrane potentials were elevated (P<0.05). SOD activity was elevated, and ROS levels were significantly reduced (P<0.05, P<0.01). Furthermore, the mRNA expression of PGC-1α and SIRT3 was upregulated, with increased protein levels of OPA1, p-AMPK/AMPK, PGC-1α, and SIRT3, while FIS1 protein expression levels were significantly reduced (P<0.05, P<0.01). Across the KXS-treated groups, the granule group showed a higher spontaneous alternation rate than the decoction and powder groups (P<0.05). ConclusionKXS decoction, powders, and granules can improve the learning and memory ability of rats, with granules being the most effective. The mechanism of action may involve activation of the AMPK/PGC-1α/SIRT3 signaling pathway, improvement of the mitochondrial function, and subsequent amelioration of the brain energy metabolism disorders.
4.Application of AI versus Mimics software for three-dimensional reconstruction in thoracoscopic anatomic segmentectomy: A retrospective cohort study
Chengpeng SANG ; Yi ZHU ; Yaqin WANG ; Li GONG ; Bo MIN ; Haibo HU ; Zhixian TANG
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2025;32(03):313-321
Objective To analyze the application effects of artificial intelligence (AI) software and Mimics software in preoperative three-dimensional (3D) reconstruction for thoracoscopic anatomical pulmonary segmentectomy. Methods A retrospective analysis was conducted on patients who underwent thoracoscopic pulmonary segmentectomy at the Second People's Hospital of Huai'an from October 2019 to March 2024. Patients who underwent AI 3D reconstruction were included in the AI group, those who underwent Mimics 3D reconstruction were included in the Mimics group, and those who did not undergo 3D reconstruction were included in the control group. Perioperative related indicators of each group were compared. Results A total of 168 patients were included, including 73 males and 95 females, aged 25-81 (61.61±10.55) years. There were 79 patients in the AI group, 53 patients in the Mimics group, and 36 patients in the control group. There were no statistical differences in gender, age, smoking history, nodule size, number of lymph node dissection groups, postoperative pathological results, or postoperative complications among the three groups (P>0.05). There were statistical differences in operation time (P<0.001), extubation time (P<0.001), drainage volume (P<0.001), bleeding volume (P<0.001), and postoperative hospital stay (P=0.001) among the three groups. There were no statistical differences in operation time, extubation time, bleeding volume, or postoperative hospital stay between the AI group and the Mimics group (P>0.05). There was no statistical difference in drainage volume between the AI group and the control group (P=0.494), while there were statistical differences in operation time, drainage tube retention time, bleeding volume, and postoperative hospital stay (P<0.05). Conclusion For patients requiring thoracoscopic anatomical pulmonary segmentectomy, preoperative 3D reconstruction and preoperative planning based on 3D images can shorten the operation time, postoperative extubation time and hospital stay, and reduce intraoperative bleeding and postoperative drainage volume compared with reading CT images only. The use of AI software for 3D reconstruction is not inferior to Mimics manual 3D reconstruction in terms of surgical guidance and postoperative recovery, which can reduce the workload of clinicians and is worth promoting.
5.Methacrylated dermal extracellular matrix hydrogel promotes repair of abdominal wall defects
Zhongyu LIU ; Wenya LI ; Yonghong FAN ; Shuang LYU ; Juan PEI ; Yaqin CHEN ; Beiyu LIU ; Hongyu SUN
Chinese Journal of Tissue Engineering Research 2025;29(10):2074-2082
BACKGROUND:Synthetic polymers,such as polypropylene and polyester,used for the treatment of abdominal wall defects not only lack biodegradability and bioactivity but also fail to meet the demands of complex and irregular wounds.Therefore,finding bioactive materials with low immunogenicity and good histocompatibility has become a hot spot in the repair of abdominal wall defects. OBJECTIVE:To prepare methacryloyl modified dermal extracellular matrix hydrogel and explore its potential application in abdominal wall defect. METHODS:(1)The porcine dermis was acellular with 0.25%trypsin and 1%Triton X-100 in turn to obtain the dermal extracellular matrix.After pepsin digestion and methacrylic anhydride modification,the methacrylated dermal extracellular matrix hydrogel was formed by photocrosslinking.The microscopic morphology of the hydrogel was observed by scanning electron microscope,and its rheological properties,swelling properties and other physical and chemical properties were tested.(2)Mice fibroblasts(L929)were inoculated into methacrylated dermal extracellular matrix hydrogel to detect the cell compatibility.(3)Totally 12 SD rats were randomly divided into two groups(n=6)to create abdominal wall defect model with peritoneum preserved.The defect site of the polypropylene group was filled with polypropylene material,and the hydrogel group was filled with methacrylated dermal extracellular matrix hydrogel.The wound skin of both groups was covered with polypropylene material.The wound healing was observed and histological analysis was carried out. RESULTS AND CONCLUSION:(1)Enzymatic hydrolysis had a good decellularization effect on porcine dermis after decellularization,and the original glycosaminoglycans and collagen were well retained.Scanning electron microscope observation revealed that the dermal extracellular matrix hydrogel presented loose and porous structure.The aperture was between 70 and 120 μm.The swelling ratio was(16.88±3.24)%and the water absorption was(94.24±1.11)%.The rheological property test showed that the methacrylated dermal extracellular matrix hydrogel was stable and had shear thinning characteristics,with injectability.(2)CCK-8 assay and live/dead staining showed that methacrylated dermal extracellular matrix hydrogel had good cell compatibility.(3)The results of animal experiments showed that the skin wound healing rate of the experimental group was higher than that of the control group at 7,10,and 14 days after operation(P<0.05).Hematoxylin-eosin and Masson staining of skin and muscle tissue exhibited that compared with the polypropylene group,the skin wound epithelialization,hair follicle formation,collagen fiber arrangement,and neovascularization were better in the hydrogel group 14 days after surgery.The skin wound new tissue structure was similar to the normal tissue at 28 days after surgery,and scar hyperplasia was less.A small amount of muscle regeneration was observed on day 28 after operation.(4)The results show that the methacrylated dermal extracellular matrix hydrogel can promote wound skin healing and muscle tissue regeneration in rats with abdominal wall defect.
6.Effect of Longmu Piyan Prescription on Oxidative Stress in Atopic Dermatitis Mice
Mengxi MA ; Siqi WU ; Qingying WANG ; Yaqin LI ; Jinhe WANG ; Na LANG ; Jianxun REN
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(5):88-95
ObjectiveThis study observes the intervention effect of Longmu Piyan prescription on oxidative stress in BALB/c mice with atopic dermatitis (AD) induced by 2,4-dinitrochlorobenzene (DNCB) and explores its mechanism. MethodThe AD model was established using the method of DNCB sensitization on the back skin of BALB/c mice. Forty male BALB/c mice were randomly divided into a blank group, a model group, a vitamin C control group (0.5×10-3 mg·kg-1), and a Longmu Piyan prescription group (26 g·kg-1). Except for the blank group, other groups were sensitized with different concentrations of DNCB on the back to induce AD, and the blank group was treated with matrix coating. The gastric administration was started on the seventh day after sensitization with 2% DNCB and on the 24th day after sensitization with 0.2% DNCB continuously for 21 days. The changes in skin lesions of each group were directly observed after the experiment. Enzyme-linked immunosorbent assay (ELISA) was used to detect the levels of interleukin (IL)-4, tumor necrosis factor (TNF)-α, immunoglobulin E (IgE), and reactive oxygen species (ROS) in the serum of each group. The total antioxidant capacity determination kit-trace method (ABTS method) was used to measure the level of total antioxidant capacity (TAOC) in serum. The Hematoxylin eosin (HE) staining method was used to observe the pathological and morphological changes of the skin lesion site. The immunohistochemical method was used to detect the expression of thymic stromal lymphopoietin (TSLP) in the skin lesion site. Western blot was used to detect the expression of filaggrin (FLG) in the dorsal skin lesions. ResultThe results showed that compared with the blank group, the skin lesion score of the model group mice was significantly increased (P<0.01), and HE staining showed characteristic pathological changes of AD in the skin lesion site. At the same time, the expression of TSLP in the skin lesion was significantly increased, and that of FLG was reduced (P<0.05). The levels of TNF-α, IL-4, IgE, and ROS in serum increased, while the activity of TAOC decreased (P<0.01). Compared with the model group, the Longmu Piyan prescription group showed a significant decrease in skin lesion scores and a significant improvement in skin lesion pathology. At the same time, the expression of TSLP decreased, and the expression of FLG increased in the skin lesions (P<0.05). In addition, compared with the model group, the serum levels of TNF-α, IL-4, IgE, and ROS also decreased to varying degrees (P<0.05,P<0.01), and TAOC activity increased in the Longmu Piyan prescription group (P<0.01). ConclusionThere is a significant correlation among the degree of oxidative stress, the severity of skin lesions in AD, and the levels of inflammatory cytokines. Longmu Piyandu prescription can improve AD-like skin lesions in BALB/c mice by promoting ROS clearance, enhancing TAOC, and inhibiting oxidative stress, thus protecting the skin barrier and reducing inflammation.
7.Synthetic MRI to Assess Neurological Injury in Recovered COVID-19 Patients
Qing XIE ; Wenhao WU ; Jianwei LIAO ; Guojie WANG ; Shaolin LI ; Yaqin ZHANG
Journal of Sun Yat-sen University(Medical Sciences) 2024;45(1):114-120
ObjectiveTo assess the microstructural involvement of gray matter in recovered COVID-19 patients using Synthetic MRI. MethodsThis study was conducted in 29 recovered COVID-19 patients, including severe group (SG, n=11) and ordinary group (OG, n=18). Healthy volunteers matched by age, sex, BMI and years of education were selected as a healthy control group (HC=23 cases). Each subject underwent synthetic MRI to generate quantitative T1 and T2 maps, and the T1 and T2 maps were segmented into 90 regions of interest (ROIs) using automatic anatomical labeling (AAL) mapping. T1 and T2 values for each ROI were obtained by averaging all voxels within the ROIs. The T1 and T2 values of the 90 brain regions between the three groups were compared. ResultsRelative to HC, the SG had significantly higher T2 values in bilateral orbital superior frontal gyrus, bilateral parahippocampal gyrus, bilateral putamen, bilateral middle temporal gyrus, bilateral Inferior temporal gyrus, left orbital superior frontal gyrus, left orbital inferior frontal gyrus, left gyrus rectus, left anterior cingulate and paracingulate gyri, right median cingulate and paracingulate gyri, left posterior cingulate gyrus, and left supramarginal gyrus (P<0.05); Relative to OG, SG showed significantly increased T2 values in the left rectus gyrus, left parahippocampal gyrus, bilateral middle temporal gyrus, and bilateral inferior temporal gyrus (P<0.05). Relative to HC, the T1 values of SG were significantly increased in bilateral orbital superior frontal gyrus, left rectus gyrus, left anterior cingulate and paracingulate gyri, right posterior cingulate gyrus, left parahippocampal gyrus, left lingual gyrus, left putamen, left thalamus(P<0.05); Relative to OG, the T1 values of SG were significantly higher in the right posterior cingulate gyrus, right calcarine fissure and surrounding cortex, and left putamen (P<0.05). ConclusionsEven after recovering from COVID-19, patients may still have persistent or delayed damage to their brain gray matter structure, which is correlated with the severity of the condition. SyMRI can serve as a sensitive tool to assess the extent of microstructural damage to the central nervous system, aiding in early diagnosis of the disease.
8.Association of high triglyceride glucose index with increased mortality in peritoneal dialysis:A cohort study
Shan YANG ; Hongying LI ; Jingxuan ZHOU ; Yaode CHEN ; Yaqin LI ; Ziqi GU ; Hongxin NIU
The Journal of Practical Medicine 2024;40(3):371-377
Objective The objective of this study is to investigate whether there is a correlation between a high TyG index(serum triglyceride glucose index)and higher mortality rates among patients undergoing peritoneal dialysis(PD).Methods This study utilized a single-center retrospective cohort as the basis for its methods..From January 1,2007 to December 31,2015,a total of 519 PD patients kept under observation until December 31,2018.There searchers employed the Kaplan-Meier method and Cox proportional hazards modelsto examine the cor-relation between TyG index levels and mortality.Results Over a period of 40.5 months,104(20.0%)individuals with Parkinson's disease passed away,with 55(52.9%)of these deaths attributed to cardiovascular disease(CVD).The serum median TyG index at baseline was 8.44(6.48,11.94).Through Cox regression analysis subject to the adjustments of such parameters as gender,age,body mass index(BMI),presence of cardiovascular disease,hypertension,diabetes mellitus,hemoglobin,serum albumin,serum Ferritin,total cholesterol,renal residual function(RRF),An increased risk of all-cause mortality(HR = 2.22,95%CI:1.43~3.44,P<0.001)and CVD mortality(HR = 2.50,95%CI:1.34~4.65,P = 0.004)was observed with a higher baseline TyG index(8.44).A comparable impact was observed in the correlation between the average TyG index over time(TA-TyG index)and both all-cause mortality and CVD mortality.(HR = 1.90,95%CI:1.25~2.90,P = 0.003;HR = 2.05,95%CI:1.14~3.70,P = 0.017,respectively).Conclusion PD patients with a higher serum TyG index have a greater risk of all-cause mortality and mortality related to cardiovascular disease.
9.Application of electronic rotation registration manual for residency training based on hospital information system docking: Practice and exploration
Xi LUO ; Li LIU ; Baoli KANG ; Yaqin ZHU ; Xiaoliang SUN ; Min DING ; Xin XIA ; Zengguang XU ; Liyi SONG ; Chi CHEN
Chinese Journal of Medical Education Research 2024;23(1):128-133
The contents recorded in the rotation registration manual is not only the quantitative indicators for evaluating the quality of residency training, but also the important basis for training assessment and issuance of training certificates. In order to solve the problems of data authenticity, information delay, and repeated entry in the rotation registration manual for residency training, Shanghai East Hospital, Tongji University, launched a project to dock the electronic rotation registration manual with the hospital information system. Through the establishment of the project team, the development of working mechanisms, and the implementation of the project, data analysis was used for process reformation and system optimization, so as to continuously improve management efficiency and medical safety while solving problems and form a set of implementation system with reference significance in practice.
10.Diagnostic value of targeted sequencing panel for genetic variation in neonates in neonatal intensive care unit
Wenwen LI ; Lin ZOU ; Kefeng TANG ; Yaqin ZHANG ; Xueping SHEN ; Jinghui ZHANG ; Guosong SHEN
Chinese Journal of Perinatal Medicine 2024;27(2):118-125
Objective:To investigate the clinical value of targeted sequencing panel in the detection of genetic variation in neonates in neonatal intensive care unit (NICU).Methods:All neonates (≤28 d of age) admitted in the NICU (case group) and 200 full-term healthy neonates born with no obvious phenotypic abnormalities of Huzhou Maternity and Child Health Care Hospital were enrolled in this prospective study from November 2022 to January 2023. Based on a list of preventable and treatable rare diseases as well as newly screened diseases in China, a targeted sequencing panel suitable for Chinese newborns was designed to target the pathogenic genes and mutation sites associated with 601 genes and 542 diseases. Dried blood spot specimens were prepared and analyzed by the targeted sequencing panel. Pathogenic sites detected by the panel sequencing were verified using Sanger sequencing. The genetic testing results were analyzed according to the clinical features of the neonates. According to the number of primary clinical diagnosis index (including premature infants, neonatal hyperbilirubinemia, hemorrhagic diseases, neonatal infections, ventricular septal defect/patent ductus arteriosus, and others), these patients were divided into four groups with 1, 2, 3, and ≥4 diagnosis index, respectively. Chi-square test and linear correlation Chi-square test were used for statistical analysis. Results:There were 173 patients in the case group and 30.6% (53/173) of them carried pathogenic variants, including 52 positive for pathogenic genes and one with chromosome copy number variant. The positive rate of pathogenic genes was significantly higher in the case group than in the control group [30.1% (52/173) vs. 15.0% (30/200), χ 2=12.26, P<0.001]. Fourteen pathogenic genes were detected in the case group, including FLG, UGT1A1, G6PD, MYH7, AR, ABCC2, ACADS, CYP21A2, GJB2, MEFV, PAH, PKHD1, SCN4A, and HBA. In the case group, the detection rate of pathogenic variants in jaundiced neonates was higher than that in non-jaundiced neonates [35.2% (44/125) vs. 18.8% (9/48), χ 2=4.42, P=0.036]. However, there were no statistically significant differences in the detection rates of pathogenic variants between male and female infants, infants born to mothers of advanced maternal age or not, infants born to mothers with or without gestational diabetes mellitus, premature and term infants, or infants with or without hemorrhagic disorders, neonatal infections, or ventricular septal defects/patent ductus arteriosus in the case group (all P>0.05). The detection rate of pathogenic variants showed a linear increase in infants with 1, 2, 3, and ≥4 diagnosis index [21.1% (8/38), 25.4% (15/59), 38.2% (13/34), and 40.5% (17/42); linear correlation χ 2=4.84, P=0.028]. In the case group, seven genes with a high detection rate of genetic variation (including positive pathogenic genes and carriers) were UGT1A1 [had the highest detection rate, 24.9% (43/173)], GJB2, FLG, DUOX2, ABCA4, G6PD, and MUT. Seven loci with higher mutation frequency were c.211G>A(p.Gly71Arg), c.1091C>T(p.Pro364Leu), c.-41_-40dupTA, and c.686C>A(p.Pro229Gln) in the UGT1A1 gene, c.109G>A(p.Val37Ile) in the GJB2 gene, and c.12064A>T(p.Lys4022Ter) and c.3321del(p.Gly1109GlufsTer13) in the FLG gene. Conclusion:This panel sequencing can provide effective genetic testing for neonates in NICU, especially in children with complex clinical diagnosis.

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