1.Economic evaluation of free newborn screening for congenital heart disease in Lishui City
YIN Chang ; YE Jiajia ; YANG Yongmei
Journal of Preventive Medicine 2026;38(6):583-587
Objective:
To evaluate the health economic value of the free screening policy for congenital heart disease (CHD) among newborns in Lishui City, Zhejiang Province, so as to provide the evidence for optimizing health resource allocation and improving basic public health services.
Methods:
Data on free CHD screening in Lishui City from 2022 to 2024 were collected through the Newborn CHD Screening Registration System of Lishui Maternity and Child Health Care Hospital. With no screening as the control, costs, benefits and utilities were calculated and discounted to the year 2022 at a discount rate of 3%. Benefit-cost ratio (BCR) and incremental cost-utility ratio (ICUR) were used for economic evaluation. One-way sensitivity analysis and Monte Carlo probabilistic sensitivity analysis were conducte.
Results:
A total of 44 343 newborns were screened for free CHD in Lishui City from 2022 to 2024. Among them, 4 202 tested positive on initial screening, 367 were confirmed as CHD cases, and 3 835 were false-positive. After discounting, the total screening cost was 2.141 0 million yuan, with total benefits of 13.148 2 million yuan and the net health utility gain was 245.32 quality-adjusted life year (QALY). The BCR was 6.14, and the ICUR was 8 727 yuan/QALY, which was lower than the willingness-to-pay threshold of per capita gross domestic product in Lishui City (78 978 yuan/QALY). Sensitivity analysis showed that the BCR remained above 1 and the ICUR remained below the willingness-to-pay threshold across all key parameters, indicating robust results.
Conclusions
The free newborn CHD screening policy in Lishui City presents favorable economic efficiency and scalability. It is recommended to further optimize costs and benefits through centralized procurement of consumables and closed-loop information management.
2.The influence of Omaha system continuity nursing on the pain and quality of life of patients after rotator cuff surgery
Chunping YE ; Cuihua SHEN ; Chuanchuan LIU ; Jiajia WU ; Fan HE ; Yingying CHEN
China Modern Doctor 2025;63(16):9-12,56
Objective To explore the effect of Omaha system continuity nursing on the degree of pain and quality of life in patients undergoing arthroscopic rotator cuff repair.Methods A total of 110 patients who underwent arthroscopic rotator cuff repair at the First Affiliated Hospital of Wenzhou Medical University from September 2022 to May 2023 were selected.They were divided into intervention group and control group according to the random number table method,with 55 cases in each group.Patients in control group were given conventional continuous nursing,while patients in intervention group were given Omaha system continuity nursing.Both groups of patients were intervened for 6 months.The range of motion of shoulder joint,shoulder joint function,degree of pain and quality of life of two groups of patients before and after the intervention were compared.Results After the intervention,the range of motion of shoulder joint in intervention group was significantly greater than that in control group,University of California,Los Angeles shoulder joint score and the 8-item short form health survey were significantly higher than those in control group,and numerical rating scale score of pain was significantly lower than that in control group(P<0.05).Conclusion Omaha system continuity nursing can improve shoulder joint mobility and function,alleriate pain,and improve quality of life for patients undergoing arthroscopic rotator cuff repair surgery.
3.Effect of Jianpi Rougan Xifeng Decoction on behavioral manifestations in rats with tic disorder model and its mechanism of Ca 2+-CaM-CaMK Ⅱ signaling pathway
Yun XIA ; Qinquan ZHU ; Yong YE ; Xinyi LIU ; Jiajia ZHANG ; Qiumei YANG ; Di ZHANG
Chinese Journal of Behavioral Medicine and Brain Science 2025;34(5):397-404
Objective:To investigate the effects of Jianpi Rougan Xifeng Decoction on the behaviors and the Ca 2+ -CaM-CaMK Ⅱ signaling pathway in the striatum of rats with tic disorder models. Methods:Seventy-two SPF-grade SD male rats were randomly divided into blank group, model group, tiapride group (15.93 mg/kg, intragastric administration), low-dose (4.32 g/kg, intragastric administration), medium-dose (8.64 g/kg, intragastric administration) and high-dose (17.28 g/kg, intragastric administration) Jianpi Rougan Xifeng Decoction groups, with 12 rats in each group. Rats in the blank group and model group were gavaged with 0.5 mg/kg of distilled water while rats in other 4 groups were gavaged with corresponding drugs, all rats were gavaged once a day for 28 days.The evaluations of motor behavior and stereotyped behavior were conducted using the Kadasah scoring method and the Diamond scoring method. Calcium content in the striatum was detected using a calcium assay kit. Immunohistochemical analysis was employed to detect the expression of dopamine transporter (DAT) and inositol 1, 4, 5-triphosphate (IP3) in the striatum of rats. Western blot was used to assess the expression of calmodulin (CaM) and calcium/calmodulin-dependent protein kinase Ⅱ (CaMK Ⅱ) in the striatum. RT-PCR was utilized to detect the expression of CaM and CaMK Ⅱ mRNA in the striatum. All data were processed using SPSS 26.0 software, and comparisons among multiple groups were performed using one-way ANOVA and Kruskal-Wallis test.Results:(1) After four weeks of pharmacological intervention, statistically significant differences were observed in the locomotor activity scores and stereotyped scores among the six groups of rats ( H=41.20, 44.24, both P<0.01). Specifically, the locomotor activity scores(3.00(3.00, 3.25), 1.00(0.75, 1.25), 1.00(0.75, 2.00), 1.00(0, 1.00)) and stereotyped scores(3.00(3.00, 4.00), 1.00(0.75, 2.00), 2.00(0.75, 2.00), 1.00(0, 1.25)) in the tiapride group and the medium- and high-dose Jianpi Rougan Xifeng Decoction groups were significantly lower than those in the model group (all P<0.01). (2) Results from the calcium assay kit revealed statistically significant differences in striatal calcium content among the six groups of rats ( F=146.67, P<0.01). The calcium content in the tiapride group and the medium- and high-dose Jianpi Rougan Xifeng Decoction groups was significantly lower than that in the model group (all P<0.01). Additionally, the calcium content in the medium-dose ((0.40±0.02)mmol/g) and high-dose ((0.30±0.03)mmol/g) Jianpi Rougan Xifeng Decoction groups was lower than that in the low-dose group ((0.48±0.02)mmol/g) (both P<0.01). (3) Immunohistochemical results showed that there were statistically significant differences in the mean optical density values of DAT and IP3 in the striatum among the six groups of rats ( F=25.57, 154.98, both P<0.01). The IP3 mean optical density in the tiapride group and the Jianpi Rougan Xifeng Decoction groups with medium and high doses exhibited lower values compared to the model group (all P<0.05), whereas the DAT mean optical density displayed higher values in these groups compared to the model group (all P<0.05). The low-dose Jianpi Rougan Xifeng Decoction group also exhibited a lower optical density value of IP3 compared to the model group( P<0.05). The optical density values of IP3 (2.68±0.21, 2.40±0.22) in the medium-dose and high-dose Jianpi Rougan Xifeng Decoction groups were lower than that in the low-dose group (4.27±0.23) (both P<0.01). (4) Western blot results indicated that there were statistically significant differences in the protein expression levels of CaM and CaMK Ⅱ in the striatum among the six groups of rats ( F=233.03, 118.60, both P<0.01). The protein expression levels of CaM and CaMK Ⅱ in the tiapride group and the low-dose, medium-dose, and high-dose Jianpi Rougan Xifeng Decoction groups were lower than those in the model group (all P<0.01). The protein expression levels of CaM (1.02±0.06, 0.84±0.02) and CaMK Ⅱ (0.48±0.03, 0.40±0.02) in the medium-dose and high-dose Jianpi Rougan Xifeng Decoction groups were lower than those in the low-dose group (1.21±0.03, 0.57±0.02)) (all P<0.05). Additionally, the protein expression level of CaM in the high-dose Jianpi Rougan Xifeng Decoction group was lower than that in the medium-dose group( P<0.05).(5) The RT-PCR results indicated significant variations in the mRNA expression levels of CaM and CaMK Ⅱ within the striatum across the six groups rats ( F=30.54, 20.78, both P<0.01). The mRNA expression levels of CaM and CaMK Ⅱ in the tiapride group and the high-dose Jianpi Rougan Xifeng Decoction group were lower than those in the model group (both P<0.05). The mRNA expression levels of CaMK Ⅱ (1.38±0.17) in the high-dose Jianpi Rougan Xifeng Decoction group were lower than those in the low-dose group (1.99±0.27) ( P<0.01). Conclusion:Jianpi Rougan Xifeng Decoction can improve locomotor activity and stereotyped behavior in rats with tic disorder model. The mechanism may be through inhibiting the Ca 2+ -CaM-CaMK Ⅱ signaling pathway and regulating the expression of DAT and IP3, thereby modulating the release and recovery of dopamine and reducing the occurrence of tic symptoms.
4.Effect of Jianpi Rougan Xifeng Decoction on behavioral manifestations in rats with tic disorder model and its mechanism of Ca 2+-CaM-CaMK Ⅱ signaling pathway
Yun XIA ; Qinquan ZHU ; Yong YE ; Xinyi LIU ; Jiajia ZHANG ; Qiumei YANG ; Di ZHANG
Chinese Journal of Behavioral Medicine and Brain Science 2025;34(5):397-404
Objective:To investigate the effects of Jianpi Rougan Xifeng Decoction on the behaviors and the Ca 2+ -CaM-CaMK Ⅱ signaling pathway in the striatum of rats with tic disorder models. Methods:Seventy-two SPF-grade SD male rats were randomly divided into blank group, model group, tiapride group (15.93 mg/kg, intragastric administration), low-dose (4.32 g/kg, intragastric administration), medium-dose (8.64 g/kg, intragastric administration) and high-dose (17.28 g/kg, intragastric administration) Jianpi Rougan Xifeng Decoction groups, with 12 rats in each group. Rats in the blank group and model group were gavaged with 0.5 mg/kg of distilled water while rats in other 4 groups were gavaged with corresponding drugs, all rats were gavaged once a day for 28 days.The evaluations of motor behavior and stereotyped behavior were conducted using the Kadasah scoring method and the Diamond scoring method. Calcium content in the striatum was detected using a calcium assay kit. Immunohistochemical analysis was employed to detect the expression of dopamine transporter (DAT) and inositol 1, 4, 5-triphosphate (IP3) in the striatum of rats. Western blot was used to assess the expression of calmodulin (CaM) and calcium/calmodulin-dependent protein kinase Ⅱ (CaMK Ⅱ) in the striatum. RT-PCR was utilized to detect the expression of CaM and CaMK Ⅱ mRNA in the striatum. All data were processed using SPSS 26.0 software, and comparisons among multiple groups were performed using one-way ANOVA and Kruskal-Wallis test.Results:(1) After four weeks of pharmacological intervention, statistically significant differences were observed in the locomotor activity scores and stereotyped scores among the six groups of rats ( H=41.20, 44.24, both P<0.01). Specifically, the locomotor activity scores(3.00(3.00, 3.25), 1.00(0.75, 1.25), 1.00(0.75, 2.00), 1.00(0, 1.00)) and stereotyped scores(3.00(3.00, 4.00), 1.00(0.75, 2.00), 2.00(0.75, 2.00), 1.00(0, 1.25)) in the tiapride group and the medium- and high-dose Jianpi Rougan Xifeng Decoction groups were significantly lower than those in the model group (all P<0.01). (2) Results from the calcium assay kit revealed statistically significant differences in striatal calcium content among the six groups of rats ( F=146.67, P<0.01). The calcium content in the tiapride group and the medium- and high-dose Jianpi Rougan Xifeng Decoction groups was significantly lower than that in the model group (all P<0.01). Additionally, the calcium content in the medium-dose ((0.40±0.02)mmol/g) and high-dose ((0.30±0.03)mmol/g) Jianpi Rougan Xifeng Decoction groups was lower than that in the low-dose group ((0.48±0.02)mmol/g) (both P<0.01). (3) Immunohistochemical results showed that there were statistically significant differences in the mean optical density values of DAT and IP3 in the striatum among the six groups of rats ( F=25.57, 154.98, both P<0.01). The IP3 mean optical density in the tiapride group and the Jianpi Rougan Xifeng Decoction groups with medium and high doses exhibited lower values compared to the model group (all P<0.05), whereas the DAT mean optical density displayed higher values in these groups compared to the model group (all P<0.05). The low-dose Jianpi Rougan Xifeng Decoction group also exhibited a lower optical density value of IP3 compared to the model group( P<0.05). The optical density values of IP3 (2.68±0.21, 2.40±0.22) in the medium-dose and high-dose Jianpi Rougan Xifeng Decoction groups were lower than that in the low-dose group (4.27±0.23) (both P<0.01). (4) Western blot results indicated that there were statistically significant differences in the protein expression levels of CaM and CaMK Ⅱ in the striatum among the six groups of rats ( F=233.03, 118.60, both P<0.01). The protein expression levels of CaM and CaMK Ⅱ in the tiapride group and the low-dose, medium-dose, and high-dose Jianpi Rougan Xifeng Decoction groups were lower than those in the model group (all P<0.01). The protein expression levels of CaM (1.02±0.06, 0.84±0.02) and CaMK Ⅱ (0.48±0.03, 0.40±0.02) in the medium-dose and high-dose Jianpi Rougan Xifeng Decoction groups were lower than those in the low-dose group (1.21±0.03, 0.57±0.02)) (all P<0.05). Additionally, the protein expression level of CaM in the high-dose Jianpi Rougan Xifeng Decoction group was lower than that in the medium-dose group( P<0.05).(5) The RT-PCR results indicated significant variations in the mRNA expression levels of CaM and CaMK Ⅱ within the striatum across the six groups rats ( F=30.54, 20.78, both P<0.01). The mRNA expression levels of CaM and CaMK Ⅱ in the tiapride group and the high-dose Jianpi Rougan Xifeng Decoction group were lower than those in the model group (both P<0.05). The mRNA expression levels of CaMK Ⅱ (1.38±0.17) in the high-dose Jianpi Rougan Xifeng Decoction group were lower than those in the low-dose group (1.99±0.27) ( P<0.01). Conclusion:Jianpi Rougan Xifeng Decoction can improve locomotor activity and stereotyped behavior in rats with tic disorder model. The mechanism may be through inhibiting the Ca 2+ -CaM-CaMK Ⅱ signaling pathway and regulating the expression of DAT and IP3, thereby modulating the release and recovery of dopamine and reducing the occurrence of tic symptoms.
5.The influence of Omaha system continuity nursing on the pain and quality of life of patients after rotator cuff surgery
Chunping YE ; Cuihua SHEN ; Chuanchuan LIU ; Jiajia WU ; Fan HE ; Yingying CHEN
China Modern Doctor 2025;63(16):9-12,56
Objective To explore the effect of Omaha system continuity nursing on the degree of pain and quality of life in patients undergoing arthroscopic rotator cuff repair.Methods A total of 110 patients who underwent arthroscopic rotator cuff repair at the First Affiliated Hospital of Wenzhou Medical University from September 2022 to May 2023 were selected.They were divided into intervention group and control group according to the random number table method,with 55 cases in each group.Patients in control group were given conventional continuous nursing,while patients in intervention group were given Omaha system continuity nursing.Both groups of patients were intervened for 6 months.The range of motion of shoulder joint,shoulder joint function,degree of pain and quality of life of two groups of patients before and after the intervention were compared.Results After the intervention,the range of motion of shoulder joint in intervention group was significantly greater than that in control group,University of California,Los Angeles shoulder joint score and the 8-item short form health survey were significantly higher than those in control group,and numerical rating scale score of pain was significantly lower than that in control group(P<0.05).Conclusion Omaha system continuity nursing can improve shoulder joint mobility and function,alleriate pain,and improve quality of life for patients undergoing arthroscopic rotator cuff repair surgery.
6.Effect of ORF9 gene of porcine circovirus type 2 on PK-15 cells
Mengting BIAN ; Haiying LIANG ; Zhiyong ZENG ; Deyuan TANG ; Bin WANG ; Ni YE ; Jiajia LIU ; Shu HUANG ; Xiangying PAN ; Hongli TIAN
Chinese Journal of Veterinary Science 2024;44(7):1349-1355
To investigate the effects of ORF9 gene of porcine circovirus type 2(PCV2)on PK-15,eu-karyotic expression plasmid was constructed and transfected into PK-15 cells,and the effects of overexpression of ORF9 on proliferation,apoptosis and immunization of PK-15 cells were exam-ined by flow cytometry and qRT-PCR.The results showed that ORF9 gene overexpression signifi-cantly up-regulated the expression levels of the ER stress marker gene GRP78,increased the num-ber of S phase cells,accelerated cell cycle progression,increased the apoptosis rate of PK-15 cells,up-regulated the expression levels of apoptosis-related genes caspase-3,caspase-8,caspase-9,p53 and Bax(P<0.01),down-regulated the expression levels of apoptosis-related genes Bcl-2,up-reg-ulated the expression levels of immune-related genes 1L-8,IL-10,NF-κB and TNF-α(P<0.01),and down-regulated the expression levels of immune-related genes IL-2,IFN-β and IL-12(P<0.01).The above results indicate that ORF9 gene may promote the proliferation and apoptosis of PK-15 cells and play a role in the escape process of PK-15 cells.
7.Correlations of D-dimer and the Global Registry of Acute Coronary Events score with long-term heart failure in patients with acute myocardial infarction
Jiarui SHEN ; Jiajia ZHANG ; Senyang CHEN ; Yan QIAN ; Zhiqian CHEN ; Xinying YE ; Pei ZHAO
Journal of Clinical Medicine in Practice 2024;28(22):99-104
Objective To analyze the correlations of D-dimer and the Global Registry of Acute Coronary Events (GRACE) score with long-term heart failure (HF) in patients with acute myocardial infarction (AMI). Methods A total of 398 patients with AMI were selected as research objects and divided into normal D-dimer group (
8.Effect of Shenling Baizhusan on Alcoholic Liver Injury in Rats by Regulating Ferroptosis Based on Nrf2 Signaling Pathway
Xiangyu ZHOU ; Sufang ZHOU ; Yuru LI ; Shiqin CAI ; Jiajia LIAO ; Zuoyu YE
Chinese Journal of Experimental Traditional Medical Formulae 2023;29(5):104-113
ObjectiveTo observe the effect of Shenling Baizhusan on the intervention of the nuclear factor erythroid 2-related factor 2 (Nrf2) signaling pathway by regulating ferroptosis in rats with alcoholic liver injury. MethodForty SD rats were randomly divided into model group, polyene phosphatidylcholine group, and high, medium, and low-dose Shenling Baizhusan groups, with 8 rats in each group. Another 8 SD rats were taken as blank group. The model group, polyene phosphatidylcholine group, high, medium, and low-dose Shenling Baizhusan groups were given 10 mL·kg-1 liquor by gavage for modeling, and the blank group was given equal volume of distilled water by gavage. After 4 h of daily alcoholic administration, 143.64 mg·kg-1 of polyene phosphatidylcholine group was given to the polyene phosphatidylcholine group, 15, 7.5, 3.75 mg·kg-1 of Shenling Baizhusan were given to Shenling Baizhusan high, medium, and low-dose groups, respectively, and the blank group and the model group were given equal volume of distilled water. The gavage lasted for 6 weeks. The levels of alanine aminotransferase (ALT), aspartate aminotransferase (AST), glutamyl transpeptidase (GGT), total cholesterol (TC), and triglyceride (TG) were detected by automatic biochemical analyzer. The levels of tumor necrosis factor-α (TNF-α) and interleukin-β (IL-β) were detected by the enzyme-linked immunosorbent assay (ELISA). The levels of lipopolysaccharide (LPS), malondialdehyde (MDA), superoxide dismutase (SOD), glutathione (GSH), and Fe+ were detected by biochemical assay. The pathological changes in the liver were observed by hematoxylin-eosin (HE) staining and oil red O staining. The mRNA expression levels of Nrf2, heme oxygenase-1 (HO-1), glutathione peroxidase 4 (GPX4), ferritin heavy polypeptide 1 (FTH1), and nuclear factor-κB (NF-κB) were detected by Real-time polymerase chain reaction (Real-time PCR). The protein expression levels of Nrf2, HO-1, GPX4, FTH1, p65, and phosphorylation (p)-p65 were detected by Western blot. ResultAs compared with the blank group, the levels of liver function (ALT, AST, and GGT) and blood lipids (TC and TG) in the model group were significantly increased (P<0.05). The liver showed obvious steatosis, with a large number of fat deposition, the oxidative stress and inflammatory factors were significantly increased (P<0.05), and the level of Fe+ was significantly increased in model group (P<0.05). The protein expression levels of Nrf2, HO-1, GPX4, and FTH1 was significantly down-regulated (P<0.05), and those of p65 and p-p65 was significantly up-regulated in the model group (P<0.05). The mRNA expression levels of Nrf2, HO-1, GPX4, and FTH1 were significantly down-regulated (P<0.05), and the mRNA expression level of NF-κB was significantly up-regulated (P<0.05). As compared with the model group, the levels of liver function (ALT, AST, and GGT) and blood lipids (TC and TG) in the high-dose and medium-dose Shenling Baizhusan groups were significantly decreased (P<0.05), liver steatosis was significantly improved, fat deposition was significantly reduced, oxidative stress and inflammatory factors were significantly decreased (P<0.05 ), and Fe+ level was significantly decreased (P<0.05). In the high-dose and medium-dose Shenling Baizhusan, the protein expression levels of Nrf2, HO-1, GPX4, and FTH1 were significantly up-regulated (P<0.05), and those of p65, p-p65 were significantly down-regulated (P<0.05). The mRNA expression levels of Nrf2, HO-1, GPX4, and FTH1 were significantly up-regulated (P<0.05), and the mRNA expression level of NF-κB was significantly down-regulated (P<0.05). ConclusionShenling Baizhusan can effectively reduce liver injury in rats with ALD, regulate steatosis and fat deposition, and play an antioxidant and anti-inflammatory role in the liver. Its mechanism may be related to the inhibition of ferroptosis in hepatocytes by up-regulating the Nrf2 signaling pathway to improve oxidative stress
9.Development status of clinical pathway at home and abroad
Shuzhen PENG ; Ye YI ; Kewen LIN ; Jia′ao LOU ; Yibei SI ; Yinghui JIN ; Jiajia FENG ; Pan ZHANG ; Likai LIN
Chinese Journal of Hospital Administration 2023;39(8):569-574
Clinical pathway is an important quality management tool for regulating medical behavior both at home and abroad, and an important means of controlling medical costs in the reform of medical insurance payment methods.The author reviewed the current development status of clinical pathways both at home and abroad, focusing on summarizing the development experience of foreign countries, and analyzing the shortcomings in the development of clinical pathways in China from the perspectives of formulation, implementation, and evaluation. It is proposed that China should establish and improve the regulatory and incentive mechanisms for clinical pathways, accelerate the construction of supporting medical security systems, explore new incentive transmission models, attach importance to the role of patient participation in the formulation and implementation of clinical pathways, and so on, in order to provide reference for promoting the efficient development of clinical pathways in China.
10.Analysis of a Chinese pedigree affected with Hereditary FⅫ deficiency due to compound heterozygous variants of F12 gene.
Jiajia YE ; Yongyan LI ; Jingzhen ZHOU ; Yayun YANG ; Weiyun FENG
Chinese Journal of Medical Genetics 2023;40(10):1241-1245
OBJECTIVE:
To explore the laboratory phenotype and molecular pathogenesis in a Chinese pedigree affected with Hereditary coagulation factor Ⅻ (FⅫ) deficiency.
METHODS:
A male proband admitted to Ningbo No.2 Hospital on July 17, 2021 due to chronic gastritis and members of his pedigree (7 individuals from three generations) were selected as the study subjects. Prothrombin time (PT), activated partial thromboplastin time (APTT), FⅧ activity (FⅧ: C), FⅨ activity (FⅨ: C), FⅪ activity (FⅪ: C), FⅫ activity (FⅫ: C), and FⅫ antigen (FⅫ: Ag) were determined. All of the exons, exon-intronic boundaries, as well as the 5'- and 3'-untranslated regions of the F12 gene were subjected to Sanger sequencing. Candidate variants were verified by cloning sequencing. The effect of candidate variants on the protein function was analyzed by bioinformatics software.
RESULTS:
The proband, a 47-year-old male, had significantly prolonged APTT (180.0 s) and decreased FⅫ:C and FⅫ:Ag levels (< 1%). His father, mother, brother and two sons also showed certain degrees of reduction. Genetic testing revealed that the proband has harbored compound heterozygous variants of the F12 gene, namely c.1092_1093insC (p.Lys365Glnfs*69) in exon 10 and c.1792_1796delGTCTA (p.Val579Hisfs*32) in exon 14. His mother and elder son were heterozygous for the c.1092_1093ins variant, whilst his father, brother, and younger son were heterozygous for the c.1792_1796delGTCTA variant. Analysis of the promoter region of exon 1 also showed that the proband and both sons had harbored a 46T/T polymorphism, whilst other family members were 46C/T. Bioinformatic analysis suggested that the p.Val579 is a highly conserved site. Protein model analysis showed that, with the p.Val579Hisfs*32 variant, a benzene ring was added and the hydrogen bond of surrounding amino acids was changed. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.1792_1796delGTCTA was classified as a pathogenic variant (PVS1+PM2_Supporting+PM4).
CONCLUSION
The c.1092_1093insC (p.Lys365Glnfs*69) and c.1792_1796delGTCTA (p.Val579Hisfs*32) compound heterozygous variants of the F12 gene probably underlay the decreased FXII levels in this pedigree. Above finding has also enriched the mutational spectrum for FⅫ deficiency.
Male
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Humans
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Aged
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Middle Aged
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Pedigree
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East Asian People
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Exons
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Introns
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Family
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Factor XII Deficiency/genetics*
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3' Untranslated Regions
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Factor XII/genetics*


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