1.Research on the prediction of Hepatitis C incidence trend in Taiyuan City based on combination model
Siyao GUO ; Qiyu ZHAO ; Yue ZHANG ; Ping ZHANG ; Xiaowen CHE ; Jinge ZHENG ; Lei WANG
Chinese Journal of Epidemiology 2025;46(2):204-209
Objective:Based on the autoregressive integrated moving average (ARIMA) model, back propagation neutral network (BPNN), and ARIMA-BPNN model, select the optimal model suitable for predicting the incidence trend of hepatitis C in Taiyuan City according to the characteristics of the data.Methods:The data of reported cases of hepatitis C in Taiyuan from 2008 to 2021 were selected, and the seasonal trend decomposition chart was used to analyze the seasonal characteristics of the monthly incidence rate of hepatitis C in Taiyuan during the period, and the ARIMA model, BPNN model, and ARIMA-BPNN model were established to predict. The performance of the model was measured using four indicators: mean absolute error ( MAE), mean squared error ( MSE), root mean square error ( RMSE), and mean absolute percentage error ( MAPE). Results:A total of 20 025 cases of hepatitis C were reported, and the overall incidence trend was stable. The BPNN model performed well on MSE, MAE, and RMSE indicators, the ARIMA-BPNN model performed well on MAPE indicators, and the ARIMA model performed relatively averagely. Conclusions:The ARIMA-BPNN model is a better model for predicting the trend of hepatitis C in Taiyuan City, with a higher predictive performance than a single model. It has significant prospects in predicting the trend of infectious diseases.
2.Conventional MRI and diffusion weighted imaging for differentiating soft tissue lymphoma and soft tissue sarcoma
Kai ZHANG ; Yue DAI ; Jie ZHOU ; Jinge LI ; Qing LIU ; Juntong LIU ; Juan TAO ; Shaowu WANG
Chinese Journal of Medical Imaging Technology 2025;41(9):1563-1567
Objective To observe the value of conventional MRI and diffusion weighted imaging(DWI)for differentiating soft tissue lymphoma(STL)and soft tissue sarcoma(STS).Methods Conventional MRI and DWI data of 25 cases of STL(STL group)and 38 cases of STS(STS group)were retrospectively analyzed.MRI features being statistically different between groups were included in logistic regression analysis to screen the independent risk factors of STL and to evaluate the sensitivity,specificity and accuracy of their combination for predicting STL.Receiver operating characteristic curve was generated,the area under the curve(AUC)was calculated to assess the diagnostic efficacy of the mean apparent diffusion coefficient(ADCmean),the minimum apparent diffusion coefficient(ADCmin),the maximum apparent diffusion coefficient(ADCmax)values for distinguishing STL from STS.Results Slightly hyperintensity on T1WI,non-necrosis,involvement of multiple muscle groups and homogeneous enhancement were all independent risk factors of STL(all P<0.05).The sensitivity,specificity and accuracy of their combination for predicting STL was 72.00%(18/25),89.47%(34/38)and 82.54%(52/63),respectively.ADCmean,ADCmin and ADCmax values of STL was(1.06±0.18)× 10-3,(0.77±0.14)×10-3 and(1.47±0.31)× 10-3mm2/s,respectively,all lower than those of STS([1.31±0.17]× 10-3,[1.02±0.23]× 10-3 and[1.64±0.16]× 10-3 mm2/s;t=-4.829--2.498,all P<0.05).The AUC of ADCmean,ADCmin and ADCmax values and their combination for differential diagnosis of STL and STS was 0.845,0.844,0.683 and 0.877,respectively.Conclusion Conventional MRI features,including T1WI signal intensity,necrosis,involvement of multiple muscle groups and enhancement pattern,along with ADCmean and ADCmin values derived from DWI contributed to differentiating STL and STS.
3.Comparative study on effect of serum vitamin A in Woking black cattle and Angus cattle on marbling grade
Junhao CUI ; Chengxing ZHANG ; Jizhe TAN ; Jinge ZHANG ; Xinyue YANG ; Xudong SHI ; Dongqiao PENG ; Yongcheng JIN
Chinese Journal of Veterinary Science 2025;45(6):1249-1259
This study aims to investigate the relationship between serum vitamin A(VA)and mar-bling grade and the effect of different levels of serum VA on slaughter performance and fatty acid composition and related gene expression in the longissimus dorsi muscle of Woking black cattle and Angus cattle.Thirty Woking black cattle and seventeen Angus cattle aged 30 months were ran-domly selected and analyzed for the linear relationship between serum VA and marbling grade af-ter slaughter.The cattle were divided into three groups:the low VA group,medium VA group and high VA group,ranked in order of VA value in both Woking black cattle and Angus cattle.Statisti-cal analysis of the effects of different types and levels of VA on marbling grade,slaughter performance,fatty acid composition,and the effects of different levels of VA on the expression of genes related to intramuscular fat deposition and other genes in Woking black cattle or Angus cat-tle were also analyzed.The results showed that the marbling grade of Woking black cattle increased numerically with increasing serum VA at slaughter(P=0.203),whereas Angus cattle showed a numerical decrease(P=0.139).Analyses of subsequent subgroups showed that Woking black cat-tle had significantly higher marbling grade and oleic acid,monounsaturated/saturated fatty acids ratio in the longissimus dorsi muscle compared to Angus cattle(P<0.05).As serum VA levels in-creased,DHA was significantly higher and n-6/n-3 fatty acid ratio significantly lower in the longis-simus dorsi muscle of Woking black cattle(P<0.05).Whereas VA was elevated in Angus cattle,a significant decrease in DHA and a significant increase in n-6/n-3 fatty acids(P<0.05)were found.Furthermore,a notable up-or down-regulation(P<0.05)of LPL,FABP4,PPARγ,C APZA2 and Villin 2 was observed in Woking black or Angus cattle,respectively,as VA levels increased.Based on these results,it was suggested that Woking black cattle require an appropriate increase in dieta-ry VA during the late fattening stage,which was found to produce a higher marbling grade and a higher percentage of beneficial fatty acids for human health when serum VA reached 80.7 IU/dL.Whereas Angus cattle still need to be restricted in ration VA content in the late fattening stage,when serum VA is elevated to 73.6 IU/dL,they produce beef that not only has a lower marbling grade but also has a corresponding reduction in fatty acids beneficial to human health.
4.Analysis of hearing screening results for newborns with failed genetic screening of 23-cite chip
Yu RUAN ; Cheng WEN ; Xiaohua CHENG ; Wei ZHANG ; Jinge XIE ; Yue LI ; Lin DENG ; Shan GAO ; Lihui HUANG
Chinese Archives of Otolaryngology-Head and Neck Surgery 2025;32(4):215-220
OBJECTIVE To investigate the relationship between 23-site chip genetic screening failures and the results of newborns hearing screening,and to provide clinical reference for the diagnosis and treatment of genetic screening failures.METHODS There were 1 916 newborns born in the Beijing area from November 2022 to May 2024,who did not pass the 23-site chip genetic screening tests and underwent newborn hearing screening with definite initial screening results.Chi-square test was used to analyze the relationship between different mutation types and genotypes and the initial hearing screening results.RESULTS The overall neonatal hearing screening failure rate was 5.27%(101/1 916),with a higher failure rate of 61.54%(56/91)for homozygous and compound heterozygous mutations than the failure rate of 2.54%(45/1 772)for heterozygous mutations,0%(0/34)for digenic gene heterozygous mutations,and 0(0/19)for mtDNA 12S rRNA mutations,with a statistically significant difference(P<0.001).Among the homozygous and compound heterozygous mutations,the failure rates of homozygous and compound heterozygous for GJB2 gene and SLC26A4 gene were 59.76%(49/82)and 77.78%(7/9),respectively,with no statistically significant difference between the two groups(P=0.488).The homozygous and compound heterozygous for GJB2 gene were divided into three groups based on genotype:c.109G>A homozygous mutations,c.109G>A compound heterozygous mutations,and other homozygous and compound heterozygous mutations.The hearing screening failure rates of the three groups,from highest to lowest,were as follow:other homozygous and compound heterozygous mutations(88.89%,8/9),c.109G>A homozygous mutations(65.12%,28/43),and c.109G>A compound heterozygous mutations(43.33%,13/30),with a statistically significant difference(P=0.029).The failure rates of heterozygous for GJB2 gene,SLC26A4 gene and GJB3 gene were 2.86%(40/1 398),1.25%(4/321)and 1.89%(1/53),respectively,with no statistically significant difference among the three groups(P=0.241).The failure rate of hearing screening for individuals with GJB2 heterozygotes of different genotypes and individuals with SLC26A4 heterozygotes of different genotypes did not show statistically significant differences.CONCLUSION The failure rate of newborn hearing screening for homozygous and compound heterozygous mutation of 23-site chip genetic screening is higher than that of other mutation types,verifying the effectiveness of the newborn hearing screening program.Some newborns of homozygous and compound heterozygous mutation can pass the hearing screening,especially those with the c.109G>A homozygous and compound heterozygous mutation,who need clinical follow-up.
5.Relationship between RB1 gene deletion and prognosis of multiple myeloma and effect of renal insufficiency on it
Xinyue LANG ; Guihua ZHANG ; Huanxin ZHANG ; Kaige LIU ; Zhengxia SONG ; Kailin XU ; Jinge XU ; Qiurong ZHANG
Cancer Research and Clinic 2025;37(2):124-131
Objective:To investigate the relationship between retinoblastoma binding protein 1 (RB1) gene deletion and the prognosis of multiple myeloma (MM) patients, and the possible effect of renal insufficiency on it.Methods:A retrospective cohort study was conducted. The clinical data and follow-up information of MM patients who were treated in the Second Affiliated Hospital of Xuzhou Medical University and the Affiliated Hospital of Xuzhou Medical University from December 2020 to November 2023 were collected. According to the presence of RB1 gene deletion in bone marrow samples detected by fluorescence in situ hybridization (FISH), the patients were divided into the RB1 gene deletion group and the RB1 gene non-deletion group, and the clinicopathological characteristics and hematological index levels were compared between the two groups. Renal insufficiency was determined by renal function assessment indicator serum creatinine (Scr) >177 μmol/L. The Spearman test was used to analyze the relationship between the number of RB1 gene deletion positive cells and levels of Scr, hemoglobin and serum calcium in MM patients. The Kaplan-Meier method was used to analyze progression-free survival (PFS), and the Cox proportional hazards model was used to determine the influencing factors of PFS in all MM patients and RB1 gene deletion and non-deletion MM patients.Results:A total of 75 MM patients were enrolled, of whom 24 (32.0%) had RB1 gene deletion. There were no significant differences in gender, age ≥65 years old, bone destruction and lactate dehydrogenase level between the RB1 gene deletion and non-deletion groups (all P > 0.05). There were significant differences in the distributions of patients in each stage of MM International Staging System (ISS) and revised International Staging System (R-ISS) between the two groups, as well as in hemoglobin, serum calcium, Scr, β 2-microglobulin, serum albumin levels, and the proportion of bone marrow plasma cells (all P < 0.05). The number of RB1 gene deletion positive cells was positively correlated with Scr level ( r = 0.863, P = 0.016), but not with hemoglobin and serum calcium levels (both P > 0.05). The PFS of the RB1 gene non-deletion group was better than that of the RB1 gene deletion group (1-year PFS rate: 83.5% vs. 71.7%, 2-year PFS rate: 56.3% vs. 26.3%), and the difference was statistically significant ( P = 0.012). PFS in the non-renal insufficiency group was better than that in the renal insufficiency group (1-year PFS rate: 85.6% vs. 61.9%, 2-year PFS rate: 58.0% vs. 13.5%), and the difference was statistically significant ( P = 0.001). The PFS of patients without renal insufficiency in both the RB1 gene deletion and non-deletion groups was better than that in patients with renal insufficiency, and the differences were statistically significant (both P < 0.05). Multivariate Cox regression analysis showed that ISS stage Ⅲ was an independent risk factor for poor PFS in MM patients (stage Ⅲ vs. stage Ⅰ, HR = 11.317, 95% CI: 1.220-104.979, P = 0.033). Multivariate Cox regression analysis in RB1 gene deletion and non-deletion groups showed that ISS stage Ⅲ (stage Ⅲ vs. stageⅠ, HR = 4.166, 95% CI: 1.419-12.225, P = 0.009), R-ISS stage Ⅲ (stage Ⅲ vs. stage Ⅰ, HR = 3.800, 95% CI: 1.005-14.367, P = 0.049), serum calcium > 2.52 mmol/L (> 2.52 mmol/L vs. ≤2.52 mmol/L, HR = 2.398, 95% CI: 1.037-5.546, P = 0.041) and renal insufficiency (yes vs. no, HR = 2.363, 95% CI: 1.021-5.472, P = 0.045) were independent risk factors for poor PFS in RB1 gene non-deletion MM patients, and serum calcium >2.52 mmol/L (>2.52 mmol/L vs. ≤ 2.52 mmol/L, HR = 3.673, 95% CI: 1.160-11.627, P = 0.027) and renal insufficiency (yes vs. no, HR = 3.985, 95% CI: 1.220-13.016, P = 0.022) were independent risk factors for poor PFS in RB1 gene deletion MM patients. Conclusions:The PFS of MM patients with RB1 gene deletion is worse than that of patients without RB1 gene deletion, RB1 gene deletion may be related to renal insufficiency in MM patients, and the prognosis of MM patients with RB1 gene deletion and renal insufficiency may be worse.
6.Comparative study on effect of serum vitamin A in Woking black cattle and Angus cattle on marbling grade
Junhao CUI ; Chengxing ZHANG ; Jizhe TAN ; Jinge ZHANG ; Xinyue YANG ; Xudong SHI ; Dongqiao PENG ; Yongcheng JIN
Chinese Journal of Veterinary Science 2025;45(6):1249-1259
This study aims to investigate the relationship between serum vitamin A(VA)and mar-bling grade and the effect of different levels of serum VA on slaughter performance and fatty acid composition and related gene expression in the longissimus dorsi muscle of Woking black cattle and Angus cattle.Thirty Woking black cattle and seventeen Angus cattle aged 30 months were ran-domly selected and analyzed for the linear relationship between serum VA and marbling grade af-ter slaughter.The cattle were divided into three groups:the low VA group,medium VA group and high VA group,ranked in order of VA value in both Woking black cattle and Angus cattle.Statisti-cal analysis of the effects of different types and levels of VA on marbling grade,slaughter performance,fatty acid composition,and the effects of different levels of VA on the expression of genes related to intramuscular fat deposition and other genes in Woking black cattle or Angus cat-tle were also analyzed.The results showed that the marbling grade of Woking black cattle increased numerically with increasing serum VA at slaughter(P=0.203),whereas Angus cattle showed a numerical decrease(P=0.139).Analyses of subsequent subgroups showed that Woking black cat-tle had significantly higher marbling grade and oleic acid,monounsaturated/saturated fatty acids ratio in the longissimus dorsi muscle compared to Angus cattle(P<0.05).As serum VA levels in-creased,DHA was significantly higher and n-6/n-3 fatty acid ratio significantly lower in the longis-simus dorsi muscle of Woking black cattle(P<0.05).Whereas VA was elevated in Angus cattle,a significant decrease in DHA and a significant increase in n-6/n-3 fatty acids(P<0.05)were found.Furthermore,a notable up-or down-regulation(P<0.05)of LPL,FABP4,PPARγ,C APZA2 and Villin 2 was observed in Woking black or Angus cattle,respectively,as VA levels increased.Based on these results,it was suggested that Woking black cattle require an appropriate increase in dieta-ry VA during the late fattening stage,which was found to produce a higher marbling grade and a higher percentage of beneficial fatty acids for human health when serum VA reached 80.7 IU/dL.Whereas Angus cattle still need to be restricted in ration VA content in the late fattening stage,when serum VA is elevated to 73.6 IU/dL,they produce beef that not only has a lower marbling grade but also has a corresponding reduction in fatty acids beneficial to human health.
7.Research on the prediction of Hepatitis C incidence trend in Taiyuan City based on combination model
Siyao GUO ; Qiyu ZHAO ; Yue ZHANG ; Ping ZHANG ; Xiaowen CHE ; Jinge ZHENG ; Lei WANG
Chinese Journal of Epidemiology 2025;46(2):204-209
Objective:Based on the autoregressive integrated moving average (ARIMA) model, back propagation neutral network (BPNN), and ARIMA-BPNN model, select the optimal model suitable for predicting the incidence trend of hepatitis C in Taiyuan City according to the characteristics of the data.Methods:The data of reported cases of hepatitis C in Taiyuan from 2008 to 2021 were selected, and the seasonal trend decomposition chart was used to analyze the seasonal characteristics of the monthly incidence rate of hepatitis C in Taiyuan during the period, and the ARIMA model, BPNN model, and ARIMA-BPNN model were established to predict. The performance of the model was measured using four indicators: mean absolute error ( MAE), mean squared error ( MSE), root mean square error ( RMSE), and mean absolute percentage error ( MAPE). Results:A total of 20 025 cases of hepatitis C were reported, and the overall incidence trend was stable. The BPNN model performed well on MSE, MAE, and RMSE indicators, the ARIMA-BPNN model performed well on MAPE indicators, and the ARIMA model performed relatively averagely. Conclusions:The ARIMA-BPNN model is a better model for predicting the trend of hepatitis C in Taiyuan City, with a higher predictive performance than a single model. It has significant prospects in predicting the trend of infectious diseases.
8.Conventional MRI and diffusion weighted imaging for differentiating soft tissue lymphoma and soft tissue sarcoma
Kai ZHANG ; Yue DAI ; Jie ZHOU ; Jinge LI ; Qing LIU ; Juntong LIU ; Juan TAO ; Shaowu WANG
Chinese Journal of Medical Imaging Technology 2025;41(9):1563-1567
Objective To observe the value of conventional MRI and diffusion weighted imaging(DWI)for differentiating soft tissue lymphoma(STL)and soft tissue sarcoma(STS).Methods Conventional MRI and DWI data of 25 cases of STL(STL group)and 38 cases of STS(STS group)were retrospectively analyzed.MRI features being statistically different between groups were included in logistic regression analysis to screen the independent risk factors of STL and to evaluate the sensitivity,specificity and accuracy of their combination for predicting STL.Receiver operating characteristic curve was generated,the area under the curve(AUC)was calculated to assess the diagnostic efficacy of the mean apparent diffusion coefficient(ADCmean),the minimum apparent diffusion coefficient(ADCmin),the maximum apparent diffusion coefficient(ADCmax)values for distinguishing STL from STS.Results Slightly hyperintensity on T1WI,non-necrosis,involvement of multiple muscle groups and homogeneous enhancement were all independent risk factors of STL(all P<0.05).The sensitivity,specificity and accuracy of their combination for predicting STL was 72.00%(18/25),89.47%(34/38)and 82.54%(52/63),respectively.ADCmean,ADCmin and ADCmax values of STL was(1.06±0.18)× 10-3,(0.77±0.14)×10-3 and(1.47±0.31)× 10-3mm2/s,respectively,all lower than those of STS([1.31±0.17]× 10-3,[1.02±0.23]× 10-3 and[1.64±0.16]× 10-3 mm2/s;t=-4.829--2.498,all P<0.05).The AUC of ADCmean,ADCmin and ADCmax values and their combination for differential diagnosis of STL and STS was 0.845,0.844,0.683 and 0.877,respectively.Conclusion Conventional MRI features,including T1WI signal intensity,necrosis,involvement of multiple muscle groups and enhancement pattern,along with ADCmean and ADCmin values derived from DWI contributed to differentiating STL and STS.
9.Relationship between RB1 gene deletion and prognosis of multiple myeloma and effect of renal insufficiency on it
Xinyue LANG ; Guihua ZHANG ; Huanxin ZHANG ; Kaige LIU ; Zhengxia SONG ; Kailin XU ; Jinge XU ; Qiurong ZHANG
Cancer Research and Clinic 2025;37(2):124-131
Objective:To investigate the relationship between retinoblastoma binding protein 1 (RB1) gene deletion and the prognosis of multiple myeloma (MM) patients, and the possible effect of renal insufficiency on it.Methods:A retrospective cohort study was conducted. The clinical data and follow-up information of MM patients who were treated in the Second Affiliated Hospital of Xuzhou Medical University and the Affiliated Hospital of Xuzhou Medical University from December 2020 to November 2023 were collected. According to the presence of RB1 gene deletion in bone marrow samples detected by fluorescence in situ hybridization (FISH), the patients were divided into the RB1 gene deletion group and the RB1 gene non-deletion group, and the clinicopathological characteristics and hematological index levels were compared between the two groups. Renal insufficiency was determined by renal function assessment indicator serum creatinine (Scr) >177 μmol/L. The Spearman test was used to analyze the relationship between the number of RB1 gene deletion positive cells and levels of Scr, hemoglobin and serum calcium in MM patients. The Kaplan-Meier method was used to analyze progression-free survival (PFS), and the Cox proportional hazards model was used to determine the influencing factors of PFS in all MM patients and RB1 gene deletion and non-deletion MM patients.Results:A total of 75 MM patients were enrolled, of whom 24 (32.0%) had RB1 gene deletion. There were no significant differences in gender, age ≥65 years old, bone destruction and lactate dehydrogenase level between the RB1 gene deletion and non-deletion groups (all P > 0.05). There were significant differences in the distributions of patients in each stage of MM International Staging System (ISS) and revised International Staging System (R-ISS) between the two groups, as well as in hemoglobin, serum calcium, Scr, β 2-microglobulin, serum albumin levels, and the proportion of bone marrow plasma cells (all P < 0.05). The number of RB1 gene deletion positive cells was positively correlated with Scr level ( r = 0.863, P = 0.016), but not with hemoglobin and serum calcium levels (both P > 0.05). The PFS of the RB1 gene non-deletion group was better than that of the RB1 gene deletion group (1-year PFS rate: 83.5% vs. 71.7%, 2-year PFS rate: 56.3% vs. 26.3%), and the difference was statistically significant ( P = 0.012). PFS in the non-renal insufficiency group was better than that in the renal insufficiency group (1-year PFS rate: 85.6% vs. 61.9%, 2-year PFS rate: 58.0% vs. 13.5%), and the difference was statistically significant ( P = 0.001). The PFS of patients without renal insufficiency in both the RB1 gene deletion and non-deletion groups was better than that in patients with renal insufficiency, and the differences were statistically significant (both P < 0.05). Multivariate Cox regression analysis showed that ISS stage Ⅲ was an independent risk factor for poor PFS in MM patients (stage Ⅲ vs. stage Ⅰ, HR = 11.317, 95% CI: 1.220-104.979, P = 0.033). Multivariate Cox regression analysis in RB1 gene deletion and non-deletion groups showed that ISS stage Ⅲ (stage Ⅲ vs. stageⅠ, HR = 4.166, 95% CI: 1.419-12.225, P = 0.009), R-ISS stage Ⅲ (stage Ⅲ vs. stage Ⅰ, HR = 3.800, 95% CI: 1.005-14.367, P = 0.049), serum calcium > 2.52 mmol/L (> 2.52 mmol/L vs. ≤2.52 mmol/L, HR = 2.398, 95% CI: 1.037-5.546, P = 0.041) and renal insufficiency (yes vs. no, HR = 2.363, 95% CI: 1.021-5.472, P = 0.045) were independent risk factors for poor PFS in RB1 gene non-deletion MM patients, and serum calcium >2.52 mmol/L (>2.52 mmol/L vs. ≤ 2.52 mmol/L, HR = 3.673, 95% CI: 1.160-11.627, P = 0.027) and renal insufficiency (yes vs. no, HR = 3.985, 95% CI: 1.220-13.016, P = 0.022) were independent risk factors for poor PFS in RB1 gene deletion MM patients. Conclusions:The PFS of MM patients with RB1 gene deletion is worse than that of patients without RB1 gene deletion, RB1 gene deletion may be related to renal insufficiency in MM patients, and the prognosis of MM patients with RB1 gene deletion and renal insufficiency may be worse.
10.Clinical hearing phenotypes analysis of GJB2 gene p.V37I homozygote and compound heterozygote mutation in infants.
Yu RUAN ; Cheng WEN ; Xiaohua CHENG ; Wei ZHANG ; Jinge XIE ; Yue LI ; Lin DENG ; Lihui HUANG
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2024;38(12):1104-1108
Objective:To analyze the hearing phenotypes of p. V37I homozygote and compound heterozygote mutation in GJB2 gene, and to provide basis for genetic counseling. Methods:Fifty-three subjects with p. V37I homozygote and compound heterozygote mutation were recruited at Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital from January 2023 to March 2024. All subjects received universal newborn hearing screening(UNHS), 23-site chip neonatal deafness genetic screening and audiological tests, including ABR, acoustic immittance, DPOAE, ASSR. The results of newborn hearing screening and hearing diagnosis were compared between homozygous mutation group of 30 cases and compound heterozygous mutation group of 23 cases. Results:In 53 cases, the overall refer rate of UNHS was 64.15%(34/53), the refer rate of homozygous mutation group was 80.00%(24/30), which was higher than that of compound heterozygous mutation group(43.48%, 10/23), the difference between the two groups was statistically significant(P<0.05). Three subjects with p. V37I compound heterozygous mutation had passed UNHS and diagnosed with unilateral mild hearing loss. The average age of diagnosis of 53 cases was (3.77±1.40) months, 25 cases with hearing loss accounted for 47.17%, including 13 cases with unilateral, 12 cases with bilateral, 28 cases with normal hearing accounted for 52.83%. There was no significant difference between homozygous mutation group(56.67%, 17/30) and compound heterozygous mutation group(34.78%, 8/23) in the proportion of confirmed hearing loss(P>0.05). Among 37 ears of 25 patients with hearing loss, the proportion of mild, moderate and profound hearing loss were 70.27%(26/37), 27.03%(10/37) and 2.70%(1/37), respectively. The hearing loss degree of the homozygous mutation group and the compound heterozygous mutation group were mainly mild, accounting for 70.37%(19/27) and 70.00%(7/10) respectively. There was no significant difference between the two groups in the distribution of hearing loss degree(P>0.05). Conclusion:The probability of hearing loss was 47.17% in infants of GJB2 gene p. V37I homozygote and compound heterozygote mutation, mainly mild hearing loss. There was no difference in the probability of hearing loss and the distribution of hearing loss degree between the two groups. Patients with p. V37I homozygous and compound heterozygous mutation currently diagnosed as normal hearing need continuous clinical follow-up.
Humans
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Connexin 26
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Heterozygote
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Homozygote
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Female
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Phenotype
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Male
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Mutation
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Connexins/genetics*
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Infant
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Infant, Newborn
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Hearing Tests
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Neonatal Screening
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Deafness/genetics*
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Genetic Testing

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