1.Prevention of Adverse Pregnancy Outcomes in High-Risk Pregnant Women with Gestational Diabetes Mellitus by Combining Nutritional Interventions in Early Pregnancy with Traditional Chinese Medicine Physical Dialectics
Yufeng GUO ; Yuxia ZHANG ; Junwen LU ; Chengyao LIU ; Lijun ZHOU ; Hong DING
Journal of Practical Obstetrics and Gynecology 2024;40(10):833-840
Objective:To assess the effects of nutritional interventions combined with Traditional Chinese Med-icine(TCM)physical dialectics on the development of gestational diabetes mellitus(GDM),dietary status during pregnancy,and maternal and infant outcomes in high-risk pregnant women in early pregnancy.Methods:298 high-risk pregnant women with GDM in early pregnancy(gestational week≤14 weeks)registered in the Obstet-rics Department of Urumqi Maternal and Child Health Hospital from 1st December 2022 to 30th March 2023 were selected as the study subjects and randomly divided into the intervention group(149 cases)and the control group(149 cases).During 14 to 23+6 weeks of pregnancy,TCM constitution nutritional intervention was carried out for pregnant women in the intervention group,and routine guidance and healthy dietary education was carried out in the control group.The incidence of GDM in the two groups was compared at 24-28 weeks of pregnancy,and the relationship between early pregnancy nutritional intervention combined with TCM constitution and the risk of GDM was analysed in subgroups using logistic regression and likelihood ratio test.The dietary situation,biochemical in-dexes and delivery outcomes after the intervention were compared at 32-36 weeks of pregnancy.Results:①The incidence of GDM in the intervention group was significantly lower than that in the control group(14.09%vs.23.49%,P<0.05).The effect of the TCM constitution based nutritional intervention on the risk probability of GDM was statistically significant only among pregnant women with different ranges of gestational weight gain(GWG)(P=0.018).Among them,pregnant women with GWG lower than the recommended range had a reduced risk of GDM after intervention(OR 0.27,95%Cl 0.10-0.68,P=0.008).② After intervention,the evaluation index of di-etary balance index of pregnant women in the intervention group was better than that of the control group(P<0.05),and the intake of cereals and potatoes,vegetables,and water of pregnant women in late pregnancy in the intervention group was higher than that of the control group(P<0.05).③The levels of triglycerides,total choles-terol,low-density lipoprotein,glycated haemoglobin,uric acid and creatinine of pregnant women in the intervention group were lower than those of the control group in late pregnancy(P<0.05).GWG,gestational age at delivery,the rate of low-birth-weight,and the neonatal 1-minute Apgar scores were all better than those of the control group(P<0.05.Conclusions:Nutritional interventions in early pregnancy combined with TCM constitution can sig-nificantly reduce the incidence of GDM in high-risk pregnant women and the chances of low-birth-weight babies.Obstetrics outpatient clinics can actively develop extensive collaboration with TCM and clinical nutrition depart-ments to reduce adverse pregnancy outcomes for both mother and fetus.
2.Analysis on the incidence trend of pulmonary tuberculosis before and after the COVID-19 in Hotan,Xinjiang,from 2015 to 2021
Yilihamu YILIPA ; Yuemaier NUERBIYE ; Di WU ; Yu SHI ; Yanling ZHENG ; Liping ZHANG
Acta Universitatis Medicinalis Anhui 2024;59(4):678-683
Objective To analyze the incidence characteristics and trends in pulmonary tuberculosis in the Hotan prefecture,before and after the epidemic,and to provide a reference basis for the formulation and evaluation of tu-berculosis prevention and control measures in the Hotan prefecture.Methods The Hotan prefecture's pulmonary tuberculosis incidence data was collected between 2015 and 2021.Joinpoint regression(JPR)model and Interrupt-ed Time Series(ITS)model were established to explore the incidence trend of pulmonary tuberculosis,as well as the impact of COVID-19 prevention and control measures in Xinjiang on the incidence trend in Hotan,respectively.Furthermore,an analysis of variations in incidence among different age and gender subgroups was carried out.Re-sults The results of the JPR model showed that from 2015 to 2021,the reported incidence rate of pulmonary tuber-culosis in the Hotan prefecture initially increased and then decreased,with a turning point appearing in December 2018.The incidence rate in males was slightly higher than that in females,and the turning point and incidence trend were consistent with the overall trend.Among all age subgroups,those≥60 age group had the highest inci-dence rate,with the trend also showing an initial increase followed by a decrease.A turning point in the incidence rate for the under 18 age group appeared in June 2021,yet the trend was not statistically significant(P>0.05).The turning points in the 19-59 age group and in those aged≥60 were consistent with the overall trend.The re-sults of the ITS model showed that the incidence rate of pulmonary tuberculosis in the Hotan prefecture significantly decreased since January 2020,dropping from 319.28 per 100 000 in 2019 to 155.88 per 100 000 in 2021,a de-crease of 51.16%year-on-year,with a monthly average reduction of 0.049 per 100 000.Conclusion In 2018,Xinjiang province integrated tuberculosis screening into the universal health checkup for the entire population,which led to the identification of numerous cases of tuberculosis.In the Hotan prefecture,the reported incidence of pulmonary tuberculosis peaked in December 2018 and then started to decline.Under the impact of COVID-19 isola-tion measures in Xinjiang,the reported incidence rate showed a notable decrease starting in January 2020.Reitera-ting preventive measures and remaining watchful for the possible appearance of latent tuberculosis patients is crucial as the pandemic fades.
3.Prevention of Adverse Pregnancy Outcomes in High-Risk Pregnant Women with Gestational Diabetes Mellitus by Combining Nutritional Interventions in Early Pregnancy with Traditional Chinese Medicine Physical Dialectics
Yufeng GUO ; Yuxia ZHANG ; Junwen LU ; Chengyao LIU ; Lijun ZHOU ; Hong DING
Journal of Practical Obstetrics and Gynecology 2024;40(10):833-840
Objective:To assess the effects of nutritional interventions combined with Traditional Chinese Med-icine(TCM)physical dialectics on the development of gestational diabetes mellitus(GDM),dietary status during pregnancy,and maternal and infant outcomes in high-risk pregnant women in early pregnancy.Methods:298 high-risk pregnant women with GDM in early pregnancy(gestational week≤14 weeks)registered in the Obstet-rics Department of Urumqi Maternal and Child Health Hospital from 1st December 2022 to 30th March 2023 were selected as the study subjects and randomly divided into the intervention group(149 cases)and the control group(149 cases).During 14 to 23+6 weeks of pregnancy,TCM constitution nutritional intervention was carried out for pregnant women in the intervention group,and routine guidance and healthy dietary education was carried out in the control group.The incidence of GDM in the two groups was compared at 24-28 weeks of pregnancy,and the relationship between early pregnancy nutritional intervention combined with TCM constitution and the risk of GDM was analysed in subgroups using logistic regression and likelihood ratio test.The dietary situation,biochemical in-dexes and delivery outcomes after the intervention were compared at 32-36 weeks of pregnancy.Results:①The incidence of GDM in the intervention group was significantly lower than that in the control group(14.09%vs.23.49%,P<0.05).The effect of the TCM constitution based nutritional intervention on the risk probability of GDM was statistically significant only among pregnant women with different ranges of gestational weight gain(GWG)(P=0.018).Among them,pregnant women with GWG lower than the recommended range had a reduced risk of GDM after intervention(OR 0.27,95%Cl 0.10-0.68,P=0.008).② After intervention,the evaluation index of di-etary balance index of pregnant women in the intervention group was better than that of the control group(P<0.05),and the intake of cereals and potatoes,vegetables,and water of pregnant women in late pregnancy in the intervention group was higher than that of the control group(P<0.05).③The levels of triglycerides,total choles-terol,low-density lipoprotein,glycated haemoglobin,uric acid and creatinine of pregnant women in the intervention group were lower than those of the control group in late pregnancy(P<0.05).GWG,gestational age at delivery,the rate of low-birth-weight,and the neonatal 1-minute Apgar scores were all better than those of the control group(P<0.05.Conclusions:Nutritional interventions in early pregnancy combined with TCM constitution can sig-nificantly reduce the incidence of GDM in high-risk pregnant women and the chances of low-birth-weight babies.Obstetrics outpatient clinics can actively develop extensive collaboration with TCM and clinical nutrition depart-ments to reduce adverse pregnancy outcomes for both mother and fetus.
4.Prevention of Adverse Pregnancy Outcomes in High-Risk Pregnant Women with Gestational Diabetes Mellitus by Combining Nutritional Interventions in Early Pregnancy with Traditional Chinese Medicine Physical Dialectics
Yufeng GUO ; Yuxia ZHANG ; Junwen LU ; Chengyao LIU ; Lijun ZHOU ; Hong DING
Journal of Practical Obstetrics and Gynecology 2024;40(10):833-840
Objective:To assess the effects of nutritional interventions combined with Traditional Chinese Med-icine(TCM)physical dialectics on the development of gestational diabetes mellitus(GDM),dietary status during pregnancy,and maternal and infant outcomes in high-risk pregnant women in early pregnancy.Methods:298 high-risk pregnant women with GDM in early pregnancy(gestational week≤14 weeks)registered in the Obstet-rics Department of Urumqi Maternal and Child Health Hospital from 1st December 2022 to 30th March 2023 were selected as the study subjects and randomly divided into the intervention group(149 cases)and the control group(149 cases).During 14 to 23+6 weeks of pregnancy,TCM constitution nutritional intervention was carried out for pregnant women in the intervention group,and routine guidance and healthy dietary education was carried out in the control group.The incidence of GDM in the two groups was compared at 24-28 weeks of pregnancy,and the relationship between early pregnancy nutritional intervention combined with TCM constitution and the risk of GDM was analysed in subgroups using logistic regression and likelihood ratio test.The dietary situation,biochemical in-dexes and delivery outcomes after the intervention were compared at 32-36 weeks of pregnancy.Results:①The incidence of GDM in the intervention group was significantly lower than that in the control group(14.09%vs.23.49%,P<0.05).The effect of the TCM constitution based nutritional intervention on the risk probability of GDM was statistically significant only among pregnant women with different ranges of gestational weight gain(GWG)(P=0.018).Among them,pregnant women with GWG lower than the recommended range had a reduced risk of GDM after intervention(OR 0.27,95%Cl 0.10-0.68,P=0.008).② After intervention,the evaluation index of di-etary balance index of pregnant women in the intervention group was better than that of the control group(P<0.05),and the intake of cereals and potatoes,vegetables,and water of pregnant women in late pregnancy in the intervention group was higher than that of the control group(P<0.05).③The levels of triglycerides,total choles-terol,low-density lipoprotein,glycated haemoglobin,uric acid and creatinine of pregnant women in the intervention group were lower than those of the control group in late pregnancy(P<0.05).GWG,gestational age at delivery,the rate of low-birth-weight,and the neonatal 1-minute Apgar scores were all better than those of the control group(P<0.05.Conclusions:Nutritional interventions in early pregnancy combined with TCM constitution can sig-nificantly reduce the incidence of GDM in high-risk pregnant women and the chances of low-birth-weight babies.Obstetrics outpatient clinics can actively develop extensive collaboration with TCM and clinical nutrition depart-ments to reduce adverse pregnancy outcomes for both mother and fetus.
5.Prevention of Adverse Pregnancy Outcomes in High-Risk Pregnant Women with Gestational Diabetes Mellitus by Combining Nutritional Interventions in Early Pregnancy with Traditional Chinese Medicine Physical Dialectics
Yufeng GUO ; Yuxia ZHANG ; Junwen LU ; Chengyao LIU ; Lijun ZHOU ; Hong DING
Journal of Practical Obstetrics and Gynecology 2024;40(10):833-840
Objective:To assess the effects of nutritional interventions combined with Traditional Chinese Med-icine(TCM)physical dialectics on the development of gestational diabetes mellitus(GDM),dietary status during pregnancy,and maternal and infant outcomes in high-risk pregnant women in early pregnancy.Methods:298 high-risk pregnant women with GDM in early pregnancy(gestational week≤14 weeks)registered in the Obstet-rics Department of Urumqi Maternal and Child Health Hospital from 1st December 2022 to 30th March 2023 were selected as the study subjects and randomly divided into the intervention group(149 cases)and the control group(149 cases).During 14 to 23+6 weeks of pregnancy,TCM constitution nutritional intervention was carried out for pregnant women in the intervention group,and routine guidance and healthy dietary education was carried out in the control group.The incidence of GDM in the two groups was compared at 24-28 weeks of pregnancy,and the relationship between early pregnancy nutritional intervention combined with TCM constitution and the risk of GDM was analysed in subgroups using logistic regression and likelihood ratio test.The dietary situation,biochemical in-dexes and delivery outcomes after the intervention were compared at 32-36 weeks of pregnancy.Results:①The incidence of GDM in the intervention group was significantly lower than that in the control group(14.09%vs.23.49%,P<0.05).The effect of the TCM constitution based nutritional intervention on the risk probability of GDM was statistically significant only among pregnant women with different ranges of gestational weight gain(GWG)(P=0.018).Among them,pregnant women with GWG lower than the recommended range had a reduced risk of GDM after intervention(OR 0.27,95%Cl 0.10-0.68,P=0.008).② After intervention,the evaluation index of di-etary balance index of pregnant women in the intervention group was better than that of the control group(P<0.05),and the intake of cereals and potatoes,vegetables,and water of pregnant women in late pregnancy in the intervention group was higher than that of the control group(P<0.05).③The levels of triglycerides,total choles-terol,low-density lipoprotein,glycated haemoglobin,uric acid and creatinine of pregnant women in the intervention group were lower than those of the control group in late pregnancy(P<0.05).GWG,gestational age at delivery,the rate of low-birth-weight,and the neonatal 1-minute Apgar scores were all better than those of the control group(P<0.05.Conclusions:Nutritional interventions in early pregnancy combined with TCM constitution can sig-nificantly reduce the incidence of GDM in high-risk pregnant women and the chances of low-birth-weight babies.Obstetrics outpatient clinics can actively develop extensive collaboration with TCM and clinical nutrition depart-ments to reduce adverse pregnancy outcomes for both mother and fetus.
6.Prevention of Adverse Pregnancy Outcomes in High-Risk Pregnant Women with Gestational Diabetes Mellitus by Combining Nutritional Interventions in Early Pregnancy with Traditional Chinese Medicine Physical Dialectics
Yufeng GUO ; Yuxia ZHANG ; Junwen LU ; Chengyao LIU ; Lijun ZHOU ; Hong DING
Journal of Practical Obstetrics and Gynecology 2024;40(10):833-840
Objective:To assess the effects of nutritional interventions combined with Traditional Chinese Med-icine(TCM)physical dialectics on the development of gestational diabetes mellitus(GDM),dietary status during pregnancy,and maternal and infant outcomes in high-risk pregnant women in early pregnancy.Methods:298 high-risk pregnant women with GDM in early pregnancy(gestational week≤14 weeks)registered in the Obstet-rics Department of Urumqi Maternal and Child Health Hospital from 1st December 2022 to 30th March 2023 were selected as the study subjects and randomly divided into the intervention group(149 cases)and the control group(149 cases).During 14 to 23+6 weeks of pregnancy,TCM constitution nutritional intervention was carried out for pregnant women in the intervention group,and routine guidance and healthy dietary education was carried out in the control group.The incidence of GDM in the two groups was compared at 24-28 weeks of pregnancy,and the relationship between early pregnancy nutritional intervention combined with TCM constitution and the risk of GDM was analysed in subgroups using logistic regression and likelihood ratio test.The dietary situation,biochemical in-dexes and delivery outcomes after the intervention were compared at 32-36 weeks of pregnancy.Results:①The incidence of GDM in the intervention group was significantly lower than that in the control group(14.09%vs.23.49%,P<0.05).The effect of the TCM constitution based nutritional intervention on the risk probability of GDM was statistically significant only among pregnant women with different ranges of gestational weight gain(GWG)(P=0.018).Among them,pregnant women with GWG lower than the recommended range had a reduced risk of GDM after intervention(OR 0.27,95%Cl 0.10-0.68,P=0.008).② After intervention,the evaluation index of di-etary balance index of pregnant women in the intervention group was better than that of the control group(P<0.05),and the intake of cereals and potatoes,vegetables,and water of pregnant women in late pregnancy in the intervention group was higher than that of the control group(P<0.05).③The levels of triglycerides,total choles-terol,low-density lipoprotein,glycated haemoglobin,uric acid and creatinine of pregnant women in the intervention group were lower than those of the control group in late pregnancy(P<0.05).GWG,gestational age at delivery,the rate of low-birth-weight,and the neonatal 1-minute Apgar scores were all better than those of the control group(P<0.05.Conclusions:Nutritional interventions in early pregnancy combined with TCM constitution can sig-nificantly reduce the incidence of GDM in high-risk pregnant women and the chances of low-birth-weight babies.Obstetrics outpatient clinics can actively develop extensive collaboration with TCM and clinical nutrition depart-ments to reduce adverse pregnancy outcomes for both mother and fetus.
7.Prevention of Adverse Pregnancy Outcomes in High-Risk Pregnant Women with Gestational Diabetes Mellitus by Combining Nutritional Interventions in Early Pregnancy with Traditional Chinese Medicine Physical Dialectics
Yufeng GUO ; Yuxia ZHANG ; Junwen LU ; Chengyao LIU ; Lijun ZHOU ; Hong DING
Journal of Practical Obstetrics and Gynecology 2024;40(10):833-840
Objective:To assess the effects of nutritional interventions combined with Traditional Chinese Med-icine(TCM)physical dialectics on the development of gestational diabetes mellitus(GDM),dietary status during pregnancy,and maternal and infant outcomes in high-risk pregnant women in early pregnancy.Methods:298 high-risk pregnant women with GDM in early pregnancy(gestational week≤14 weeks)registered in the Obstet-rics Department of Urumqi Maternal and Child Health Hospital from 1st December 2022 to 30th March 2023 were selected as the study subjects and randomly divided into the intervention group(149 cases)and the control group(149 cases).During 14 to 23+6 weeks of pregnancy,TCM constitution nutritional intervention was carried out for pregnant women in the intervention group,and routine guidance and healthy dietary education was carried out in the control group.The incidence of GDM in the two groups was compared at 24-28 weeks of pregnancy,and the relationship between early pregnancy nutritional intervention combined with TCM constitution and the risk of GDM was analysed in subgroups using logistic regression and likelihood ratio test.The dietary situation,biochemical in-dexes and delivery outcomes after the intervention were compared at 32-36 weeks of pregnancy.Results:①The incidence of GDM in the intervention group was significantly lower than that in the control group(14.09%vs.23.49%,P<0.05).The effect of the TCM constitution based nutritional intervention on the risk probability of GDM was statistically significant only among pregnant women with different ranges of gestational weight gain(GWG)(P=0.018).Among them,pregnant women with GWG lower than the recommended range had a reduced risk of GDM after intervention(OR 0.27,95%Cl 0.10-0.68,P=0.008).② After intervention,the evaluation index of di-etary balance index of pregnant women in the intervention group was better than that of the control group(P<0.05),and the intake of cereals and potatoes,vegetables,and water of pregnant women in late pregnancy in the intervention group was higher than that of the control group(P<0.05).③The levels of triglycerides,total choles-terol,low-density lipoprotein,glycated haemoglobin,uric acid and creatinine of pregnant women in the intervention group were lower than those of the control group in late pregnancy(P<0.05).GWG,gestational age at delivery,the rate of low-birth-weight,and the neonatal 1-minute Apgar scores were all better than those of the control group(P<0.05.Conclusions:Nutritional interventions in early pregnancy combined with TCM constitution can sig-nificantly reduce the incidence of GDM in high-risk pregnant women and the chances of low-birth-weight babies.Obstetrics outpatient clinics can actively develop extensive collaboration with TCM and clinical nutrition depart-ments to reduce adverse pregnancy outcomes for both mother and fetus.
8.Prevention of Adverse Pregnancy Outcomes in High-Risk Pregnant Women with Gestational Diabetes Mellitus by Combining Nutritional Interventions in Early Pregnancy with Traditional Chinese Medicine Physical Dialectics
Yufeng GUO ; Yuxia ZHANG ; Junwen LU ; Chengyao LIU ; Lijun ZHOU ; Hong DING
Journal of Practical Obstetrics and Gynecology 2024;40(10):833-840
Objective:To assess the effects of nutritional interventions combined with Traditional Chinese Med-icine(TCM)physical dialectics on the development of gestational diabetes mellitus(GDM),dietary status during pregnancy,and maternal and infant outcomes in high-risk pregnant women in early pregnancy.Methods:298 high-risk pregnant women with GDM in early pregnancy(gestational week≤14 weeks)registered in the Obstet-rics Department of Urumqi Maternal and Child Health Hospital from 1st December 2022 to 30th March 2023 were selected as the study subjects and randomly divided into the intervention group(149 cases)and the control group(149 cases).During 14 to 23+6 weeks of pregnancy,TCM constitution nutritional intervention was carried out for pregnant women in the intervention group,and routine guidance and healthy dietary education was carried out in the control group.The incidence of GDM in the two groups was compared at 24-28 weeks of pregnancy,and the relationship between early pregnancy nutritional intervention combined with TCM constitution and the risk of GDM was analysed in subgroups using logistic regression and likelihood ratio test.The dietary situation,biochemical in-dexes and delivery outcomes after the intervention were compared at 32-36 weeks of pregnancy.Results:①The incidence of GDM in the intervention group was significantly lower than that in the control group(14.09%vs.23.49%,P<0.05).The effect of the TCM constitution based nutritional intervention on the risk probability of GDM was statistically significant only among pregnant women with different ranges of gestational weight gain(GWG)(P=0.018).Among them,pregnant women with GWG lower than the recommended range had a reduced risk of GDM after intervention(OR 0.27,95%Cl 0.10-0.68,P=0.008).② After intervention,the evaluation index of di-etary balance index of pregnant women in the intervention group was better than that of the control group(P<0.05),and the intake of cereals and potatoes,vegetables,and water of pregnant women in late pregnancy in the intervention group was higher than that of the control group(P<0.05).③The levels of triglycerides,total choles-terol,low-density lipoprotein,glycated haemoglobin,uric acid and creatinine of pregnant women in the intervention group were lower than those of the control group in late pregnancy(P<0.05).GWG,gestational age at delivery,the rate of low-birth-weight,and the neonatal 1-minute Apgar scores were all better than those of the control group(P<0.05.Conclusions:Nutritional interventions in early pregnancy combined with TCM constitution can sig-nificantly reduce the incidence of GDM in high-risk pregnant women and the chances of low-birth-weight babies.Obstetrics outpatient clinics can actively develop extensive collaboration with TCM and clinical nutrition depart-ments to reduce adverse pregnancy outcomes for both mother and fetus.
9.Analysis of laboratory indicators such as vitamin D and blood lipids and pregnancy outcomes in pregnant women with preeclampsia
Xiaolan LIU ; Yuxia ZHANG ; Guifeng DING
Chongqing Medicine 2024;53(4):493-497
Objective To explore the relationship among serum vitamin D,calcium ion,blood lipid lev-els and preeclampsia in pregnant women,and analyze the pregnancy outcomes of pregnant women with pre-eclampsia.Methods A total of 166 pregnant women with preeclampsia who underwent pregnancy examina-tion and delivered in Urumqi Municipal Maternal and Child Health Care Hospital from January 1,2021 to Jan-uary 1,2023 were selected as the observation group,and 200 healthy pregnant women during the same period were selected as the control group.The levels of serum vitamin D,calcium ion,phosphorus ion,blood lipid in-dicators,uric acid,and creatinine were detected in the two groups,and the pregnancy complications and preg-nancy outcomes were observed.The influencing factors of preeclampsia were analyzed by using multivariate logistic regression model.Results The levels of serum vitamin D,calcium ion,and high density lipoprotein in the observation group were lower than those in the control group,and the levels of serum uric acid and creati-nine were higher than those in the control group,with statistical significance(P<0.05).The incidence of fetal growth retardation,placental abruption,oligohydramnios,cesarean section,low birth weight infants,premature delivery,and postpartum hemorrhage in the observation group were significantly higher than those in the con-trol group(P<0.05).Multivariate logistic regression analysis showed that serum vitamin D(OR=15.141,95%CI:1.831-125.204,P=0.012),calcium ion(OR=4.625,95%CI:2.654-8.059,P<0.001),high-den-sit y lipoprotein(OR=0.395,95%CI:0.235-0.666,P<0.001),creatinine(OR=1.034,95%CI:1.005-1.063,P=0.020)and uric acid(OR=1.006,95%CI:1.003-1.010,P<0.001)were independent factors for the occurrence of preeclampsia in pregnant women.Conclusion The levels of serum vitamin D,calcium ions,blood lipids,uric acid and creatinine may be correlated with the occurrence of preeclampsia.
10.Gene mutation analysis of 230 children with phenylalanine hydroxylase deficiency in Xinjiang
Yutong LIU ; Ziyi FENG ; Shuyuan XUE
International Journal of Laboratory Medicine 2024;45(6):698-705,710
Objective To investigate the frequency and distribution characteristics of gene mutations in children with phenylalanine hydroxylase(PAH)deficiency in Xinjiang.Methods A total of 230 children diag-nosed with PAH deficiency in Urumqi Maternal and Child Health Care Hospital from January 1st,2015 to February 28th,2023 were enrolled in the study.The variation of PAH gene was analyzed and the variation sites of PAH gene in children with different phenotypes were compared.Results A total of 441 PAH gene va-riants were detected in 230 children with PAH deficiency in Xinjiang,with a total detection rate of 95.87%.A-mong them,2 variants were detected in 227 cases,only 1 variant was detected in 2 cases,and 3 variants were detected in 1 case.217 cases were complex heterozygous variants,and 10 cases were homozygous variants.The high-frequency variant loci were c.158G>A[23.39%(102/441)],c.728G>A[11.70%(51/441)],c.688G>A[5.05%(22/441)],c.721C>T[3.90%(17/441)],c.611A>G[3.67%(16/441)],c.1238G>C[3.21%(14/441)].The high-frequency variant loci for classic PKU were c.728G>A,c.331C>T,and c.782G>A;the high-frequency variant loci for mild PKU were c.721C>T,c.1068C>A,and c.1301C>A;the high-frequency variant loci for children with mild HPA were c.158G>A and c.688G>A.There were significant differences in the frequency of high frequency mutations among the above three phenotypes(P<0.05).Conclusion Mild HPA predominates in children with PAH deficiency in Xinjiang.The hotspot loci of the PAH gene in Xinjiang have been clarified,and specific PAH gene loci have been observed in the three different phenotypes,which can provide theoretical basis for prenatal diagnosis and clinical genetic counselling.


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