1.Analysis of serum allergen specific IgE detection results in children with allergic diseases in Hangzhou area
Fenfang ZHU ; Jing CHEN ; Hongji JIA ; Haisong XU ; Ting JIANG ; Lihong YANG
Chinese Journal of Preventive Medicine 2025;59(9):1422-1426
To investigate the distribution and development of common allergens in children in Hangzhou area, and to provide an epidemiological basis for the prevention, diagnosis, and treatment of allergic diseases in this area. This study is a retrospective study, selecting 3 524 children who underwent allergen screening at DiAn Medical Laboratory Center (Hangzhou) Co., Ltd. from January 2022 to January 2024 as the research subjects, including 2 012 males and 1 512 females. Among them, there were 1 098 infants (0-1 year olds), 1 673 toddlers (1-3 year olds), and 753 children (3-14 year olds). Immunoblotting was used to detect 21 allergen-specific immunoglobulin E (sIgE) antibodies. The positive rates of various allergens were calculated according to gender, age, and other factors, and the epidemiological characteristics and trends were analyzed. The results showed that the overall positive rate of sIgE was 60.33% (2 126/3 524). The main inhaled allergens were Dermatophagoides pteronyssinus/Dermatophagoides farinae (992, 28.15%), dog dander (295, 8.37%) and cat dander (181, 5.13%). The main food allergens were milk (696, 19.75%), egg white (541, 15.36%) and shrimp (205, 5.83%). Boys had significantly higher sIgE positivity rates than girls for Dermatophagoides pteronyssinus/Dermatophagoides farinae(642, 31.90%, χ2=10.10, P=0.001), house dust(61, 3.02%, χ2=5.12, P=0.024), cat dander(124, 6.16%, χ2=4.06, P=0.044), mold combinations(103, 5.14%, χ2=7.51, P=0.006), and tree pollen combinations(42, 2.07%, χ2=5.44, P=0.020) (all P<0.05); With age, there was a significant increase in positivity rates for house dust mite/dust mite, house dust, mold combinations, milk, and beef (all P<0.05), and a significant decrease in positivity rates for cockroach consumption, egg whites, shrimp, crab, cod, lobster/scallop, and soybeans (all P<0.05), the positive rates of only ingestive allergens decreased significantly ( P<0.001), and the positive rates of only inhalant and mixed allergens increased significantly ( P<0.001). In conclusion,in the Hangzhou area, dust mites are the most common inhalant allergens among children with allergic diseases, while milk is the most common food allergen. Boys are more sensitive to inhalant allergens, and as children grow older, the positive rates for different allergens undergo significant changes. Dynamic monitoring of changes in specific IgE antibodies to various allergens can assist in the diagnosis, prevention, and treatment of allergic diseases.
2.Analysis of serum allergen specific IgE detection results in children with allergic diseases in Hangzhou area
Fenfang ZHU ; Jing CHEN ; Hongji JIA ; Haisong XU ; Ting JIANG ; Lihong YANG
Chinese Journal of Preventive Medicine 2025;59(9):1422-1426
To investigate the distribution and development of common allergens in children in Hangzhou area, and to provide an epidemiological basis for the prevention, diagnosis, and treatment of allergic diseases in this area. This study is a retrospective study, selecting 3 524 children who underwent allergen screening at DiAn Medical Laboratory Center (Hangzhou) Co., Ltd. from January 2022 to January 2024 as the research subjects, including 2 012 males and 1 512 females. Among them, there were 1 098 infants (0-1 year olds), 1 673 toddlers (1-3 year olds), and 753 children (3-14 year olds). Immunoblotting was used to detect 21 allergen-specific immunoglobulin E (sIgE) antibodies. The positive rates of various allergens were calculated according to gender, age, and other factors, and the epidemiological characteristics and trends were analyzed. The results showed that the overall positive rate of sIgE was 60.33% (2 126/3 524). The main inhaled allergens were Dermatophagoides pteronyssinus/Dermatophagoides farinae (992, 28.15%), dog dander (295, 8.37%) and cat dander (181, 5.13%). The main food allergens were milk (696, 19.75%), egg white (541, 15.36%) and shrimp (205, 5.83%). Boys had significantly higher sIgE positivity rates than girls for Dermatophagoides pteronyssinus/Dermatophagoides farinae(642, 31.90%, χ2=10.10, P=0.001), house dust(61, 3.02%, χ2=5.12, P=0.024), cat dander(124, 6.16%, χ2=4.06, P=0.044), mold combinations(103, 5.14%, χ2=7.51, P=0.006), and tree pollen combinations(42, 2.07%, χ2=5.44, P=0.020) (all P<0.05); With age, there was a significant increase in positivity rates for house dust mite/dust mite, house dust, mold combinations, milk, and beef (all P<0.05), and a significant decrease in positivity rates for cockroach consumption, egg whites, shrimp, crab, cod, lobster/scallop, and soybeans (all P<0.05), the positive rates of only ingestive allergens decreased significantly ( P<0.001), and the positive rates of only inhalant and mixed allergens increased significantly ( P<0.001). In conclusion,in the Hangzhou area, dust mites are the most common inhalant allergens among children with allergic diseases, while milk is the most common food allergen. Boys are more sensitive to inhalant allergens, and as children grow older, the positive rates for different allergens undergo significant changes. Dynamic monitoring of changes in specific IgE antibodies to various allergens can assist in the diagnosis, prevention, and treatment of allergic diseases.
3.Cross-cultural adaptation and validation of a simplified Chinese version of the patient experience with treatment and self-management scale
Jierui LIN ; Kai LIN ; Zhijie XU ; Lihong GUO ; Chuan ZOU
Chinese Journal of General Practitioners 2025;24(2):162-168
Objective:This study aims to simplify the Brief Patient Experience with Treatment and Self-Management (Brief PETS) by creating a Chinese version of the Brief PETS and evaluating its reliability and validity in a population of individuals with type 2 diabetes mellitus (T2DM).Methods:Following Mapi guidelines, the simplified Chinese version of the PETS scale was translated and culturally adapted. Simplified Chinese version of PETS and the Chinese version of the Treatment Burden Questionnaire (TBQ) were administered to T2DM patients recruited from community health centers in four regions of China between June and August 2022 by cluster sampling. Validity was assessed using content, construct, criterion-related, and discriminant validity, while reliability was evaluated using internal consistency and split-half reliability.Results:The Chinese short version of the PETS consists of 11 dimensions and 32 items, namely, medical information, medication, medical appointments, health management, medication side effects, diet, exercise, medical expenses, health care system, social roles, and physical and mental exhaustion. A total of 311 questionnaires were initially collected, with 289 valid responses finally analyzed after excluding ineligible surveys. The Cronbach′s α coefficient and the split-half reliability coefficient were 0.914 and 0.818 respectively. The content validity index (CVI) was 0.60-1.00, and S-CVI/Ave=0.84. Criterion validity showed that the total score of the Chinese simplified version of PETS was significantly correlated with the total score of TBQ ( r=0.804, P<0.01); discriminant validity was good ( P<0.01); nine male factors were extracted by exploratory factor analysis, which explained a total of 75.28% of the total variance, and each of the nine factors fitted different themes in the existing conceptual framework of the burden of care for T2DM with good construct validity. Conclusion:The Chinese version of the PETS scale demonstrates good reliability and validity, and can comprehensively explain the treatment burden of T2DM patients in primary healthcare settings in China.
4.Analysis of the gene mutation of patients with congenital plasminogen deficiency
Dandan YU ; Yanhui JIN ; Haixiao XIE ; Feng LIANG ; Yifan LU ; Fei XU ; Mingshan WANG ; Lihong YANG
Chinese Journal of Laboratory Medicine 2025;48(12):1581-1585
Objective:To analyze the gene mutations of 18 patients with plasminogen (PLG) deficiency and to explore the clinical manifestations caused by PLG gene mutations.Methods:This study belongs to observational study-descriptive study: case series.Clinical data from 18 patients with PLG deficiency admitted to the First Affiliated Hospital of Wenzhou Medical University from January 1st, 2021 to May 31st, 2025 were collected. The age ranged from 16 to 70 years old, with an average of 48 years old. Among them, there were 10 males and 8 females. Anticoagulant blood samples were taken before treatment to measure and analyze plasminogen activity (PLG:A), plasminogen antigen (PLG:Ag), protein C activity, protein S activity, fibrinogen, antithrombin activity, D-dimer, and fibrin (fibrinogen) degradation products. PCR direct sequencing was used to analyze the 19 exons and flanking sequences of the PLG gene in these patients, and reverse sequencing was employed to verify the suspected mutations.Results:For the 18 patients, cranial MRI showed fresh cerebral infarction lesions, and PLG:A levels ranged from 19% to 67%, while no other lab indicators showed significant abnormalities, all presenting with dysplasminogenemia. Genetic analysis revealed five types of PLG gene mutations: c.1858G>A (p.Ala620Thr) heterozygous mutation, c.1858G>A (p.Ala620Thr) homozygous mutation, c.398A>G (p.His133Arg) heterozygous mutation, c.2108G>A (p.Gly703Asp) heterozygous mutation, and c.1702G>A (p.Gly568Arg) heterozygous mutation. Among the above, the c.1858G>A heterozygous mutation was the most common, and c.398A>G and c.1702G>A were identified for the first time.Conclusion:Patients with plasminogen deficiency caused by PLG gene defects are prone to occur cerebral infarction events, which may be related to impaired fibrinolytic function due to PLG gene mutations.
5.Analysis of two pedigrees with congenital hypodysfibrinogenemia caused by two compound heterozygous variations
Qiyu XU ; Xiaoyong ZHENG ; Fei XU ; Longying YE ; Ke ZHANG ; Mingshan WANG ; Lihong YANG
Chinese Journal of Clinical Laboratory Science 2025;43(2):92-97
Objective To analyse phenotype and genetic variation of two congenital hypodysfibrinogenemia(Fg)caused by compound heterozygous variants and preliminary investigate their molecular pathogenic mechanisms.Metheds The proband A and B and their family members(a total of 19 members in 3 generations)who visited the First Hospital of Wenzhou Medical University on 4 May 2023 and 20 May 2023 for"parkinson's disease"and"pre-bilateral eyelid excision"were enrolled for the study.Prothrombin time(TT)and fibrinogen(Fg)activity were measured by coagulation assay and Fg antigen(Fg∶Ag)was measured by immunoturbidimetric assay for the two family members,and Fg aggregation assay was catalysed using human thrombin.FGG gene was amplified by PCR and se-quenced directly.The variant sites were analysed using Chromas software.Multiple sequence comparison was performed by ClustalX-2.1-win software.Pathogenicity analysis of the variant sites was performed using bioinformatics software.The analysis for FGG protein model was performed using PyMOL software.Results Phenotypic results showed TT of proband A and B extended to 27.5 s and 26.1 s,and plasma Fg activity reduced to 0.6 g/L and<0.5 g/L,respectively.Genetic sequencing identified heterozygous c.1129+62_65delAATA on intron 8 of FGG gene in the both probands,resulting in the formation of aberrant amino acids at p.γGly377-Gly388 and an early ter-mination codon at p.γTyr389 site.A heterozygous missense variant c.103C>A(p.AαArg35Ser)was found in exon 2 of the FGA gene of proband A,and a heterozygous missense variant c.569A>G(p.BβAsn190Ser)was found in exon 4 of the FGB gene of proband B.Compared to the control group,the both probands showed significant decreases in peak and rate of Fg aggregation.Multiple sequence comparison analyses showed that all the three variant sites were conserved.Three bioinformatics software predicted both the missense variants were pathogenic.Protein modelling analysis showed that the number of hydrogen bonds in p.γGly377-Gly388 variant region was altered,resulting in steric hinderance.Conclusion All the two types of compound heterozygous variants,i.e.,c.1129+62_65delAATA and p.AαArg35Ser,c.1129+62_65delAATA and p.BβAsn190Ser,have been reported for the first time in Chi-na and worldwide to date,and the three variants may be related to the reduced Fg level and function in the two pedigree.
6.Comparison of different virtual reality technologies on motor function in Parkinson's disease:a network meta-analysis
Hao ZHANG ; Chuanlei XU ; Zhenxing WEI ; Lihong MA
Chinese Journal of Rehabilitation Theory and Practice 2025;31(11):1290-1302
Objective To systematically compare the efficacy of different virtual reality(VR)technologies on motor dysfunction in patients with Parkinson's disease(PD)through a network meta-analysis(NMA).Methods Following the PRISMA-NMA guidelines,randomized controlled trials(RCT)that compared the effect of at least two interventions on motor function in patients with PD were searched in PubMed,Embase,Cochrane Li-brary,Web of Science,CNKI,Wanfang data and VIP.The interventions included immersive virtual reality(IVR),non-immersive virtual reality(VRT),augmented reality(AR),treatment as usual(TAU)and active control(AC).The primary outcomes included Unified Parkinson's Disease Rating Scale Part Ⅲ(UPDRS-Ⅲ),Berg Balance Scale(BBS)and Timed Up and Go Test(TUGT).A frequentist-based random-effects model was used to conduct NMA,and the surface under the cumulative ranking curve(SUCRA)was used to rank the interventions.Results A total of 20 RCT involving 890 patients were included.IVR performed best in improving the score of UPDRS-Ⅲ(SUCRA=97.7%)and was significantly superior to TAU(SMD=-0.82,95%CI-1.28 to-0.37).IVR showed the highest probability of being the best option for the score of BBS(SUCRA=85.2%)and was signifi-cantly superior to TAU(SMD=3.94,95%CI 1.08 to 6.80).IVR performed best in the outcome of TUGT(SU-CRA=95.1%)and was significantly superior to VRT(SMD=1.06,95%CI 0.40 to 1.72),AR(SMD=-1.09,95%CI-1.98 to-0.19)and TAU(SMD=-1.38,95%CI-1.95 to-0.82).However,subgroup analysis revealed that the efficacy advantage of IVR was mainly confirmed in short-term(four to six weeks)interventions,while the evidence for long-term efficacy was currently very limited.Conclusion The efficacy of interventions on motor rehabilitation in patients with PD appears to be positively correlated with the technology's level of immersion.As the most immersive technology,IVR is the optimal choice for im-proving overall motor function,balance and mobility in patients with PD.VRT and AR serve as effective adju-vants and are superior to TAU.
7.Evaluation of hospital infection risk assessment and prevention-control indicator system in stomatology outpatient department of general hospitals
Huijie ZHAO ; Lihong WANG ; Jiuping WANG ; Xu SUN ; Xia ZHAO ; Wenhui MA ; Yang YANG
Chinese Journal of Nosocomiology 2025;35(11):1729-1734
OBJECTIVE To construct a prevention and control index system suitable for stomatology outpatient de-partment of general hospital,so as to provide a theoretical basis for risk assessment of stomatology outpatient de-partment,and to provide an evidence-based basis for precise prevention and control.METHODS Based on the methods of literature research,literature quality evaluation and brainstorming,a draft index of the prevention and control of the general hospital's oral outpatient department was constructed,and the index system for the preven-tion and control in the stomatology outpatient department of a general hospital was finally established through re-search group discussion,content analysis and expert consultation.The three-level indicators in the index system were incorporated into the risk points of risk assessment,the failure mode and effects analysis were applied to con-duct the risk assessment,and the intervention measures and rectification cycles were formulated and implemented in clinical practice for the risk points with risk priority number(RPN)greater than 125.Based on the established index system and risk points with RPN>125,the hospital infection prevention and control checklist for stoma-tology outpatient was developed and regularly checked in the clinic.After the rectification was completed,the risk points were evaluated again,and the RPN values were compared before and after the risk control.RESULTS The recovery rate of expert consultation questionnaire was 100.00%,and the average expert authority coefficient was 0.84.The consistency ratio(CR)for the first-level indicators was 0.0499,and the consistency ratio(CR)of the second-level indicators was 0.0000-0.0790,which was less than 0.1,and the consistency was acceptable.Final-ly,a hospital infection prevention and control index system was established,comprising 5 first-level indicators,7 second-level indicators and 23 third-level indicators.The improved key control risk points were evaluated again,and the RPN values before and after comparing the risk control were reduced and<125,indicating that the im-provement measures were effective.CONCLUSION The evaluation system of prevention and control for the stoma-tology outpatient department of a general hospital established in this study is reliable,scientific and practical,and the improvement measures of risk assessment before and after the control of risk points are effective,which pro-vides evidence-based basis for risk assessment and precise prevention and control in the stomatology outpatient de-partment of general hospitals.
8.Influencing factors for delay in healthcare-seeking, definitive diagnosis, identification in patients with pulmonary tuberculosis in Minhang District
MA Qiongjin ; YAN Huiqin ; WU Yunhua ; GUO Xu ; YANG Lijia ; TANG Lihong ; YANG Shengyuan
Journal of Preventive Medicine 2025;37(1):59-64
Objective:
To investigate the influencing factors for delay in healthcare-seeking, definitive diagnosis and identification in patients with pulmonary tuberculosis (PTB) in Minhang District, Shanghai Municipality, so as to provide the basis for effectively reducing delay in PTB patients.
Methods:
Data of PTB patients in Minhang District from 2017 to 2022 were collected from the Infectious Disease Reporting Information System of Chinese Disease Prevention and Control Information System. The prevalence rates of delay in healthcare-seeking, definitive diagnosis and identification were analyzed, and factors affecting delay in healthcare-seeking, definitive diagnosis and identification were identified using multivariable logistic regression models.
Results:
A total of 4 214 PTB patients were reported in Minhang District from 2017 to 2022, including 2 802 males and 1 412 females, with a male-to-female ratio of 1.98∶1. The majority of patients were aged 25 to <45 years (1 664 cases, 39.49%). The prevalence rates of delay in healthcare-seeking, definitive diagnosis and identification were 36.81%, 30.21% and 38.09%, respectively. Delay in healthcare-seeking was associated with the year (2018, OR=0.708; 2019, OR=0.549; 2020, OR=0.670; 2021, OR=0.682), gender (female, OR=1.199), occupation (worker, OR=1.379; housekeeping service/housework/unemployed, OR=1.481), case identification route (symptom-based consultation, OR=11.159), and level of the first-diagnosed hospital (city-level, OR=1.528). Delay in definitive diagnosis was associated with age (45 to <65 years, OR=1.476), occupation (commercial service, OR=0.687; housekeeping service/housework/unemployed, OR=0.672), household registration (non-local, OR=0.820), case identification route (symptom-based consultation, OR=0.616), pathogen test result (negative/not tested, OR=1.903), and the level of the first-diagnosed hospital (city-level, OR=0.311). Delay in identification was associated with the year (2018, OR=0.785; 2019, OR=0.647; 2020, OR=0.790; 2021, OR=0.710), occupation (commercial service, OR=0.687), household registration (non-local, OR=0.848) and level of the first-diagnosed hospital (city-level, OR=0.560)
Conclusions
Year, gender, occupation, case identification route and level of the first-diagnosed hospital are influencing factors for delay in healthcare-seeking in PTB patients. Age, occupation, household registration, case identification route, pathogen test result and level of the first-diagnosed hospital are influencing factors for delay in definitive diagnosis. Year, occupation, household registration and level of the first-diagnosed hospital are influencing factors for delay in identification.
9.Effect of NEP1-40/PLGA on facial nerve repair in rats
XUE Bing ; XI Hualei ; YAO Lihong ; XU Wanqiu ; XU Xiaohang ; LIN Song ; PIAO Guiyan ; WANG Xiumei
Journal of Prevention and Treatment for Stomatological Diseases 2025;33(2):110-119
Objective:
To investigate the effect of neurite outgrowth inhibitor extracellular peptide residues 1-40 (NEP1-40) combined with poly (lactic-co-glycolic acid) (PLGA) and gelatin electrospun fiber membrane on facial nerve repair in rats.
Methods:
According to the principle of random grouping, 108 male SD rats were divided into four groups (n = 27 in each group, approved by the ethics committee), namely, the sham group, control group, PLGA group, and NEP1-40 + PLGA group. A facial nerve fracture model was established for all of the groups except for the sham group. The control group received no further treatment, the PLGA group and the NEP1-40+PLGA group were supported by PLGA membrane, and the NEP1-40+PLGA group received one immediate local injection of NEP1-40 (5 μg/μL) at a dose of 10 μL. Facial nerve function analysis, electrophysiological examination, transmission electron microscope observation, HE staining, and immunohistochemical staining of myelin marker S100β and axonal marker β3-tubulin were used to evaluate the recovery of injured facial nerves of rats at 2, 4 and 8 weeks.
Results :
At 8 weeks, the facial nerve function score of the NEP1-40+PLGA group was better than that of the control group and PLGA group (P < 0.001), and facial nerve function was significantly restored. Electrophysiological examination of nerve action potentials at the injured facial nerve showed that the amplitude in the NEP1-40+PLGA group was higher than that of the control group and PLGA group (P < 0.001), but there was no significant difference in latency and conduction velocity results between the groups (P > 0.05). At 2, 4, and 8 weeks, transmission electron microscopy showed that the number of myelinated nerve fibers and myelin sheath thickness in the cross-section of the injured facial nerve in the NEP1-40+PLGA group were greater than those in the other groups (P < 0.05). At 8 weeks, HE staining showed that the facial nerves in the control group had partially recovered, but the overall cell distribution was uneven and the boundary with surrounding tissues was slightly blurred. In contrast, the NEP1-40+PLGA group had a relatively uniform cell distribution and a clearer boundary with surrounding tissues. At 2, 4, and 8 weeks, the immunohistochemical results showed that in the cross-section of the injuried facial nerve, NEP1-40 increased the expression of neural markers S100 β and β3-tubulin, especially β3-tubulin, which was close to normal levels (P > 0.05)
Conclusion
NEP1-40 is beneficial for the generation of new myelin sheaths and axons at the site of injury, and it can promote the repair and regeneration of injured facial nerves to a certain extent, thus accelerating the recovery of injured nerve function.
10.Analysis of a Chinese pedigree affected with hereditary factor Ⅶ deficiency due to compound heterozygous variants of F7 gene.
Fei XU ; Anqing ZOU ; Haixiao XIE ; Fengjiao WANG ; Lihong YANG ; Mingshan WANG ; Yanhui JIN
Chinese Journal of Medical Genetics 2025;42(10):1265-1271
OBJECTIVE:
To investigate the molecular pathogenic mechanisms of a family with hereditary factor Ⅶ (FⅦ) deficiency.
METHODS:
A family (3 generations, 12 members) with hereditary FⅦ deficiency, in which the proband presented with menorrhagia and was admitted to the First Affiliated Hospital of Wenzhou Medical University in April 2023, was selected as the study subject. Clinical data of the family members were collected. Peripheral venous blood samples were collected from all 12 members for routine coagulation tests and genomic DNA extraction. All exons and flanking sequences of the F7 gene were amplified by PCR and analyzed by Sanger sequencing. Thrombin generation assay was performed to evaluate the coagulation potential of the proband and her parents. Multiple online bioinformatics software tools were used to analyze the conservation and pathogenicity of candidate variants identified in the proband. The pathogenicity of variant was classified according to the Standards and Guidelines for the Interpretation of Sequence Variants released by American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as ACMG guidelines). Homology modeling of the variant FⅦ protein was performed using homology modeling (SWISS-MODEL). Amino acid sequence alignment between wild-type and variant FⅦ proteins was conducted using MEGA v7, and spatial conformational differences were analyzed using PyMOL to assess the potential impact of the F7 gene variants on the structure and function of the FⅦ protein. This study was approved by the Ethics Committee of the First Affiliated Hospital of Wenzhou Medical University (Ethics No.: KY2022-R193).
RESULTS:
Coagulation tests showed that the proband's prothrombin time (PT) was significantly prolonged to 33.1 s, and both factor Ⅶ activity (FⅦ:C) and antigen (FⅦ:Ag) levels were reduced to 2%. Her parents, eldest sister, second sister, younger brother, and four children all showed mildly prolonged PT, with FⅦ:C and FⅦ:Ag levels approximately 50% of normal. Genetic sequencing identified compound heterozygous variants in the F7 gene of the proband: a heterozygous missense variant c.722C>A (p.Thr241Asn) in exon 7, and a heterozygous deletion variant c.1261_1261delA (p.Ile421Ser*fs75) in exon 8. Retrieval from domestic and international databases found no previous reports of the latter variant, suggesting it is novel. Familial co-segregation analysis confirmed that these variants were inherited from her father and mother, respectively. The thrombin generation assay demonstrated that the proband had a significantly decreased peak thrombin height (peak ratio: 29.5%), significantly increased thrombin lag time ratio and time-to-peak ratio (3.03 and 2.93, respectively), but only a mildly decreased endogenous thrombin potential (ETP) ratio of 90.7%. Online bioinformatics analysis indicated that threonine-241 (p.Thr241) in the FⅦ protein was not conserved, while isoleucine-421 (p.Ile421) was highly conserved. Both the p.Thr241Asn and p.Ile421Serfs*75 variant sites in the proband's F7 gene were predicted to be pathogenic. According to the ACMG guidelines, the p.Thr241Asn (PM3+PP1+PP3+PP4+PP5) and p.Ile421Ser*fs75 (PM2+PM4 +PP1+PP3+PP4) variants were both classified as "likely pathogenic". Structural analysis of the FⅦ protein indicated that the p.Ile421Ser*fs75 frameshift variant led to the substitution of Cysteine-428 by Alanine, preventing the formation of a critical disulfide bond between amino acid residues 400 and 428 present in the wild-type FVII protein.
CONCLUSION
The compound heterozygous variants p.Thr241Asn and p.Ile421Ser*fs75 in the F7 gene are likely the genetic etiology responsible for the reduced FⅦ levels in this hereditary FⅦ deficiency family.
Adult
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Female
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Humans
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Male
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Middle Aged
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China
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Factor VII/chemistry*
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Factor VII Deficiency/genetics*
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Heterozygote
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Mutation
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Pedigree
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East Asian People/genetics*


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