1.Effect of personalized ETA appliance on mixed dentition stage patients with Class Ⅱ malocclusion
ZUO Xiang ; LI Qin ; ZHANG Youmeng ; CHEN Weixu ; MA Xiaokai ; LI Dongmei
Journal of Prevention and Treatment for Stomatological Diseases 2025;33(6):502-508
Objective:
To explore the impact of personalized early treatment appliances (ETA) on the relationship between dental and maxillofacial structures in patients with ClassⅡ malocclusion during the replacement phase, and to provide a basis for clinical treatment.
Methods:
This study was reviewed and approved by the Medical Ethics Committee, and informed consent was obtained from patients. From May 2023 to December 2023, 15 patients with Angle ClassⅡ malocclusion accompanied by mandibular retraction and anterior deep overjet during mixed dentition were enrolled in this study (8 males and 7 females; mean age 8.8 years). Each patient received a customized domestically manufactured ETA that was created based on dental arch dimensions, overjet severity, and occlusal relationships assessed from study models. Patients were instructed to wear the appliance for at least 2 hours during the day and throughout the night. The treatment duration was 6 months, at which time the changes in cephalometric data before treatment (T0) and after treatment (T1) were compared using Uceph software
Results:
The angle between sella, nasion and supramentale point B (SNB) of the patients increased significantly by (1.03 ± 1.74°) compared to before treatment (P = 0.039). The angle between subspinale point A and supramentale point B (ANB), the distance between point A and point B on the FH plane (wits value), the overjet, and the overbite decreased by (0.47 ± 0.61°), (2.48 ± 2.11) mm, (2.48 ± 3.42) mm, and (0.79 ± 1.40) mm, respectively, compared to before treatment, and the differences were statistically significant (P<0.05). The angle between sella, nasion and subspinale point A (SNA), the angle between the FH and MP planes (FMA), the angle between the long axis of the L1 and MP plane (IMPA), the angle between the MP plane and SN plane (MP-SN), the distance from S to Go divided by the distance from N to Me (S-Go/N-Me), and the distance of the FH plane perpendicular from G point to the Pog point (G Vert Pog) increased compared to before treatment, while the angle between the SGn and FH planes (Y-axis) and the angle between the long axis of the L1 and FH plane (FMIA) decreased compared to before treatment, but there was no statistical difference (P>0.05).
Conclusion
Personalized, customized ETA orthodontic appliances can effectively improve the sagittal and vertical relationships between the maxilla and mandible in patients with ClassⅡ malocclusion.
2.Survey and drug resistance analysis on pathogens in the intestines of healthy humans in Guangzhou from 2018 to 2023
Shuang MA ; Yun XIAO ; Bixia KE ; Fangzhu OUYANG ; Keng LIN ; Yanxia LIU ; Xiang MA ; Bosheng LI ; Dongmei HE
International Journal of Laboratory Medicine 2025;46(10):1221-1226,1233
Objective To investigate the carrying status and drug resistance analysis of pathogenic bacteria in the gut of healthy population in Huadu District,Guangzhou,and provide reference for epidemiological re-search.Methods A total of 337 459 anal swabs were directly isolated and cultured from healthy individuals who underwent physical examinations from 2018 to 2023.600 anal swabs from 2022 were randomly selected for multi pathogen nucleic acid testing,direct isolation and culture,and enrichment culture.Identification of bacteria was conducted by using VITEK 2 Compact and VITEK MS,serological testing was used for determi-nation of type,and drug susceptibility testing of pathogenic bacteria was conducted.Results A total of 128 pathogenic bacteria were isolated from rectal swabs,including 52 strains of Salmonella,71 strains of Aero-monas,3 strains of Vibrio parahaemolyticus,and 2 strains of Shigella flexneri,with a total detection rate of 3.79/10 000.The detection rate of Salmonella in direct isolation and culture of 600 rectal swabs was 0.50%,the detection rate of enrichment culture was 1.00%,and the detection rate of multi-pathogen nucleic acid de-tection was 1.17%.52 strains of Salmonella were divided into 27 serotypes,and Salmonella Ⅰ 4,5,12:i:—was the dominant serotype.Aeromonas sobria was the dominant serotype in Aeromonas.The sensitivity of Salmonella to piperacillin/tazobactam,imipenem,cefepime,levofloxacin,and aztreonam was up to 92.00%or more,however,the phenomenon of multidrug resistance was severe,with a multidrug resistance rate as high as 40.38%.The resistance rate of Aeromonas to ampicillin and ampicillin/sulbactam was up to 85.00%or more,while Aeromonas was relatively sensitive to other antibiotics.Conclusion There are many species and types of intestinal pathogenic bacteria carried by healthy individuals in Huadu District,Guangzhou,with Aero-monas and Salmonella ranking first and second,and levofloxacin treatment could be preferred.The use of bac-terial culture and multi pathogen nucleic acid testing methods could improve the detection rate of intestinal pathogenic bacteria,and attention should be paid to the monitoring of intestinal pathogenic bacteria among rel-evant practitioners.
3.Expert consensus on intraoperative repositioning for patients with spine fracture and dislocation (version 2025)
Dongmei BIAN ; Ke SUN ; Ningbo CHEN ; Caixia BAI ; Miao WANG ; Yafeng QIAO ; Fei WANG ; Hong WANG ; Feng TIAN ; Mei YAN ; Meng BAI ; Linjuan ZHANG ; Liyan ZHAO ; Yaqing CUI ; Xue JIANG ; Leling FENG ; Ning NING ; Junqin DING ; Lan WEI ; Yonghua ZHAI ; Yu ZENG ; Zengmei ZHANG ; Jiqun HE ; Fenggui BIE ; Hong CHEN ; Zengyan WANG ; Li LI ; Li ZHANG ; Yaying ZHOU ; Bing SHAO ; Ying WANG ; Caixia XIE ; Yanfeng YAO ; Jingjing AN ; Wen SHI ; Xiongtao LIU ; Xiaoyan AN ; Ning NAN ; Lan LI ; Xiaohui GOU ; Qiaomei LI ; Xiuting WU ; Yuqin ZHANG ; Jing LIU ; Fusen XIANG ; Xu XU ; Na MEI ; Jiao ZHOU ; Shan FAN ; Qian WANG ; Shuixia LI
Chinese Journal of Trauma 2025;41(2):138-147
Spine fracture and dislocation are common traumatic spinal conditions that often require surgical intervention due to compromised spinal stability. Surgical approaches include anterior, posterior, and combined anterior-posterior spinal procedures. According to the specific surgical requirements, patients may be placed in the prone position or repositioned between prone and supine positions during surgery. Intraoperative repositioning has become an essential step in patient positioning. However, during repositioning, patients with spinal fracture and dislocation are at increased risk for complications such as hemodynamic instability, nerve injury, and pressure injuries to the skin and soft tissue. Notably, due to the instability of the spinal cord, even minor manipulations can further exacerbate the damage, potentially leading to severe outcomes like paraplegia. Although the current clinical guidelines provide instructive recommendations for standard position, there remains no specific protocols for intraoperative repositioning in patients with spine fracture and dislocation. With a concern for the lack of clinical studies on positioning techniques, risk prevention, and operational norms for special patients, no applicable guidelines or standards are available. A consensus was required to provide clinical reference, meet the requirements of surgical treatment, and minimize the safety risks of patients caused by improper placement of positions. Professional Committee of Operating Room Nursing of Shaanxi Nursing Association organized experts in nursing management and operating room nursing from major hospitals across China to formulate Expert consensus on intraoperative repositioning for patients with spinal fracture and dislocation ( version 2025). The consensus provides 11 recommendations covering pre-repositioning preparation, intraoperative maneuvers, and post-repositioning observation, aiming to provide references for clinical standardization of the intraoperative repositioning process and protection of patients′ safety.
4.Diagnostic Value of Serum lncRNA DDIT4-AS1,lncRNA RSPH9-4 in Patients with Bacterial Meningitis
Changhong FU ; Xueer CHEN ; Dongmei XIANG ; Yue HUANG
Journal of Modern Laboratory Medicine 2025;40(5):62-66
Objective To investigate the expression levels and diagnostic value of long non coding RNA(lncRNA)DNA damage inducible transcript 4 like protein 4 antisense RNA1(lncRNA DDIT4-AS1)and long chain non coding RNA(lncRNA)radial spoke head protein 9 homolog 4(RSPH9-4)in serum of patients with bacterial meningitis.Methods A total of 94 patients with meningitis in the Fifth Hospital of Deyang City from May 2022 to May 2024 were regarded as the bacterial meningitis group.According to the severity of damage to the central nervous system caused by bacterial meningitis,they were further separated into a general group(n=63)and a severe group(n=31).94 patients with suspected meningitis upon admission but excluded meningitis after examination were selected as the non bacterial meningitis group.A total of 94 patients diagnosed with bacterial meningitis in the Fifth Hospital of Deyang City from May 2022 to May 2024 were selected as the bacterial meningitis group 94 healthy volunteers who underwent physicalexamination were as the control group.Real-time fluorescence quantitative PCR(qRT-PCR)method was applied to detect the expression levels of lncRNA DDIT4-AS1 and lncRNA RSPH9-4 in serum samples of all personnel.Spearman analysis was applied to analyze the correlation between serum levels of lncRNA DDIT4-AS1 and lncRNA RSPH9-4 with the severity of bacterial meningitis.Multivariate Logistic analysis was applied to analyze the influencing factors of bacterial meningitis.Receiver operating characteristic(ROC)curve was plotted to analyze the diagnostic value of serum lncRNA DDIT4-AS1 and lncRNA RSPH9-4 levels for bacterial meningitis.Results Compared with the control group,the expression levels of serum lncRNA DDIT4-AS1(1.35±0.27,1.67±0.35 vs 1.01±0.18)and lncRNA RSPH9-4(1.30±0.25,1.56±0.32 vs 1.00±0.19)were increased in non bacterial meningitis group and bacterial meningitis group(t=10.159,16.259;9.263,14.589),compared with the non bacterial meningitis group,the expression levels of serum lncRNA DDIT4-AS1 and lncRNA RSPH9-4 in the bacterial meningitis group were increased(t=7.019,6.208),and the differences were statistically significant(all P<0.05),respectively.Compared with the general group,the expression levels of serum lncRNA DDIT4-AS1(1.88±0.38 vs 1.56±0.31)and lncRNA RSPH9-4(1.79±0.35 vs 1.45±0.28)were increased in the severe group,and the differences were statistically significant(t=4.361,5.088,all P<0.05).Spearman correlation analysis results showed that serum levels of lncRNA DDIT4-AS1,lncRNA RSPH9-4 were positively correlated with the severity of bacterial meningitis(r=0.524,0.548,all P<0.05).The expression levels of PCT,LDH and CRP in patients with bacterial meningitis were higher than those in patients without bacterial meningitis,and the differences were statistically significant(t=7.459,4.234,8.565,all P<0.05).Multivariate Logistic analysis showed that PCT,LDH,CRP,lncRNA DDIT4-AS1 and lncRNA RSPH9-4 were influencing factors for bacterial meningitis(Wald χ2=4.768~12.035,all P<0.05).The receiver operating characteristic(ROC)curve results showed that the combined diagnosis of serum lncRNA DDIT4-AS1 and lncRNA RSPH9-4 levels for bacterial meningitis had a significantly larger area under the curve(AUC)than the diagnosis of lncRNA DDIT4-AS1 and lncRNA RSPH9-4 alone,and the differences were statistically significant(Z=2.426,2.545,all P<0.05).Conclusion The expression levels of serum lncRNA DDIT4-AS1 and lncRNA RSPH9-4 are elevated in patients with bacterial meningitis,and the combination of the two has high diagnostic value for the disease.
5.Expert consensus on intraoperative repositioning for patients with spine fracture and dislocation (version 2025)
Dongmei BIAN ; Ke SUN ; Ningbo CHEN ; Caixia BAI ; Miao WANG ; Yafeng QIAO ; Fei WANG ; Hong WANG ; Feng TIAN ; Mei YAN ; Meng BAI ; Linjuan ZHANG ; Liyan ZHAO ; Yaqing CUI ; Xue JIANG ; Leling FENG ; Ning NING ; Junqin DING ; Lan WEI ; Yonghua ZHAI ; Yu ZENG ; Zengmei ZHANG ; Jiqun HE ; Fenggui BIE ; Hong CHEN ; Zengyan WANG ; Li LI ; Li ZHANG ; Yaying ZHOU ; Bing SHAO ; Ying WANG ; Caixia XIE ; Yanfeng YAO ; Jingjing AN ; Wen SHI ; Xiongtao LIU ; Xiaoyan AN ; Ning NAN ; Lan LI ; Xiaohui GOU ; Qiaomei LI ; Xiuting WU ; Yuqin ZHANG ; Jing LIU ; Fusen XIANG ; Xu XU ; Na MEI ; Jiao ZHOU ; Shan FAN ; Qian WANG ; Shuixia LI
Chinese Journal of Trauma 2025;41(2):138-147
Spine fracture and dislocation are common traumatic spinal conditions that often require surgical intervention due to compromised spinal stability. Surgical approaches include anterior, posterior, and combined anterior-posterior spinal procedures. According to the specific surgical requirements, patients may be placed in the prone position or repositioned between prone and supine positions during surgery. Intraoperative repositioning has become an essential step in patient positioning. However, during repositioning, patients with spinal fracture and dislocation are at increased risk for complications such as hemodynamic instability, nerve injury, and pressure injuries to the skin and soft tissue. Notably, due to the instability of the spinal cord, even minor manipulations can further exacerbate the damage, potentially leading to severe outcomes like paraplegia. Although the current clinical guidelines provide instructive recommendations for standard position, there remains no specific protocols for intraoperative repositioning in patients with spine fracture and dislocation. With a concern for the lack of clinical studies on positioning techniques, risk prevention, and operational norms for special patients, no applicable guidelines or standards are available. A consensus was required to provide clinical reference, meet the requirements of surgical treatment, and minimize the safety risks of patients caused by improper placement of positions. Professional Committee of Operating Room Nursing of Shaanxi Nursing Association organized experts in nursing management and operating room nursing from major hospitals across China to formulate Expert consensus on intraoperative repositioning for patients with spinal fracture and dislocation ( version 2025). The consensus provides 11 recommendations covering pre-repositioning preparation, intraoperative maneuvers, and post-repositioning observation, aiming to provide references for clinical standardization of the intraoperative repositioning process and protection of patients′ safety.
6.Diagnostic Value of Serum lncRNA DDIT4-AS1,lncRNA RSPH9-4 in Patients with Bacterial Meningitis
Changhong FU ; Xueer CHEN ; Dongmei XIANG ; Yue HUANG
Journal of Modern Laboratory Medicine 2025;40(5):62-66
Objective To investigate the expression levels and diagnostic value of long non coding RNA(lncRNA)DNA damage inducible transcript 4 like protein 4 antisense RNA1(lncRNA DDIT4-AS1)and long chain non coding RNA(lncRNA)radial spoke head protein 9 homolog 4(RSPH9-4)in serum of patients with bacterial meningitis.Methods A total of 94 patients with meningitis in the Fifth Hospital of Deyang City from May 2022 to May 2024 were regarded as the bacterial meningitis group.According to the severity of damage to the central nervous system caused by bacterial meningitis,they were further separated into a general group(n=63)and a severe group(n=31).94 patients with suspected meningitis upon admission but excluded meningitis after examination were selected as the non bacterial meningitis group.A total of 94 patients diagnosed with bacterial meningitis in the Fifth Hospital of Deyang City from May 2022 to May 2024 were selected as the bacterial meningitis group 94 healthy volunteers who underwent physicalexamination were as the control group.Real-time fluorescence quantitative PCR(qRT-PCR)method was applied to detect the expression levels of lncRNA DDIT4-AS1 and lncRNA RSPH9-4 in serum samples of all personnel.Spearman analysis was applied to analyze the correlation between serum levels of lncRNA DDIT4-AS1 and lncRNA RSPH9-4 with the severity of bacterial meningitis.Multivariate Logistic analysis was applied to analyze the influencing factors of bacterial meningitis.Receiver operating characteristic(ROC)curve was plotted to analyze the diagnostic value of serum lncRNA DDIT4-AS1 and lncRNA RSPH9-4 levels for bacterial meningitis.Results Compared with the control group,the expression levels of serum lncRNA DDIT4-AS1(1.35±0.27,1.67±0.35 vs 1.01±0.18)and lncRNA RSPH9-4(1.30±0.25,1.56±0.32 vs 1.00±0.19)were increased in non bacterial meningitis group and bacterial meningitis group(t=10.159,16.259;9.263,14.589),compared with the non bacterial meningitis group,the expression levels of serum lncRNA DDIT4-AS1 and lncRNA RSPH9-4 in the bacterial meningitis group were increased(t=7.019,6.208),and the differences were statistically significant(all P<0.05),respectively.Compared with the general group,the expression levels of serum lncRNA DDIT4-AS1(1.88±0.38 vs 1.56±0.31)and lncRNA RSPH9-4(1.79±0.35 vs 1.45±0.28)were increased in the severe group,and the differences were statistically significant(t=4.361,5.088,all P<0.05).Spearman correlation analysis results showed that serum levels of lncRNA DDIT4-AS1,lncRNA RSPH9-4 were positively correlated with the severity of bacterial meningitis(r=0.524,0.548,all P<0.05).The expression levels of PCT,LDH and CRP in patients with bacterial meningitis were higher than those in patients without bacterial meningitis,and the differences were statistically significant(t=7.459,4.234,8.565,all P<0.05).Multivariate Logistic analysis showed that PCT,LDH,CRP,lncRNA DDIT4-AS1 and lncRNA RSPH9-4 were influencing factors for bacterial meningitis(Wald χ2=4.768~12.035,all P<0.05).The receiver operating characteristic(ROC)curve results showed that the combined diagnosis of serum lncRNA DDIT4-AS1 and lncRNA RSPH9-4 levels for bacterial meningitis had a significantly larger area under the curve(AUC)than the diagnosis of lncRNA DDIT4-AS1 and lncRNA RSPH9-4 alone,and the differences were statistically significant(Z=2.426,2.545,all P<0.05).Conclusion The expression levels of serum lncRNA DDIT4-AS1 and lncRNA RSPH9-4 are elevated in patients with bacterial meningitis,and the combination of the two has high diagnostic value for the disease.
7.Functional near infrared imaging of college students on speech fluency tasks in traumatized
ZHENG Minxiao, ZHU Dongmei, WEI Qiang, XIANG Nian, QIU Min, XIAO Qiang, LI Xiaonan, ZHANG Yan
Chinese Journal of School Health 2024;45(3):375-378
Objective:
The study aims to explore the neural mechanism of cognitive differences in college students with posttraumatic stress disorder under verbal fluency task based on functional near infrared spectroscopy (fNIRS), so as to provide neuroimaging support for the evaluation, diagnosis and treatment of posttraumatic stress disorder(PTSD).
Methods:
Posttaumatic Stress Disorder Checklist Combat(PCL-C) was used to screen the subjects, including 21 students in PTSD group (PCL-C≥38) and 30 students in control group from September to Novenber in 2020. A 53 channel near infrared spectroscopy device was used to collect cerebral blood oxygen signals under the verbal fluency task, and correlation analysis, Mann Whitney U test and independent sample t test were performed on the results.
Results:
The difference in the total average score of PCL-C Scale between PTSD group and the control group(46.38±6.96,25.57±6.09) was statistically significant ( t=11.33, P <0.05). Correlation analysis showed that Avg-HbO in left dorsolateral prefrontal lobe was negatively correlated with PCL-C Score ( r=-0.37, P <0.05). Mann Whitney U test showed that in the left dorsolateral prefrontal lobe (Ch6), the Avg-HbO change in PTSD group [0.19(-0.09, 0.86)mmol/(L〖KG*7〗·mm)] was significantly lower than the control group [0.79( 0.37 , 1.47)mmol/(L ·mm)] ( Z=2.16, P <0.05), which was statistically significant.
Conclusions
The degree of PTSD was negatively correlated with the index of oxygenated hemoglobin in the left dorsolateral prefrontal lobe, and the oxygenated hemoglobin content in the PTSD group was lower than that in the normal group. In the future, fNIRS may be used to collect blood oxygen signals from the left dorsolateral prefrontal lobe in cognitive tasks to provide imaging evidence for the identification of PTSD.
8.Study on the correlation between glycolipids and prostate volume in patients with benign prostatic hyperplasia
Xiaobo XIANG ; Tong ZHOU ; Shiliang LI ; Xiu ZHU ; Longmei DING ; Dongmei MA
Chinese Journal of Preventive Medicine 2024;58(9):1384-1387
To study the clinical correlation between fasting plasma glucose, lipid metabolism, prostate-specific antigen and prostate volume in patients with benign prostatic hyperplasia, and to explore the combined effect as diagnostic indicators. A total of 108 patients with benign prostatic hyperplasia treated in Beijing University of Chinese Medicine Third Affiliated Hospital from June 2021 to March 2023 were retrospectively analyzed as the hyperplasia group, and 98 healthy physical examination personnel were selected as the control group during the same period. Compare the differences in levels of fasting plasma glucose (FPG), total cholesterol (TC), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), small and dense low-density lipoprotein cholesterol (sdLDL-C), homocysteine, lipoprotein a (LPa), prostate specific antigen (PSA), and free prostate specific antigen (fPSA) between two groups of patients. Using Pearson analysis method to analyze the correlation between the above indicators and the size of prostate volume in patients with benign prostatic hyperplasia; using multiple linear regression to analyze the influencing factors of prostate volume enlargement; draw receiver operating characteristic (ROC) curves and analyze the application value of individual and combined detection of HDL, FPG, PSA, and fPSA. The results showed that there were significant differences in HDL, FPG, PSA, and fPSA levels between the control group and the proliferative group( P<0.05). The size of prostate volume is negatively correlated with HDL( r=-0.183, P<0.05) and positively correlated with FPG ( r=0.202, P<0.05), PSA( r=0.412, P<0.05), and fPSA( r=0.425, P<0.05). The results of multiple linear regression analysis showed that HDL( P=0.000), FPG( P=0.048), PSA( P=0.044), and fPSA ( P=0.012) were risk factors for increased volume of benign prostatic hyperplasia; ROC curve analysis shows that the AUC of HDL, FPG, PSA, and fPSA combined detection is 0.823, which is better than individual detection. In conclusion,HDL, FPG, PSA, fPSA has close correlation with hyperplasia of prostate, the joint detection may has better prediction for benign prostatic hyperplasia.
9.Study on the correlation between glycolipids and prostate volume in patients with benign prostatic hyperplasia
Xiaobo XIANG ; Tong ZHOU ; Shiliang LI ; Xiu ZHU ; Longmei DING ; Dongmei MA
Chinese Journal of Preventive Medicine 2024;58(9):1384-1387
To study the clinical correlation between fasting plasma glucose, lipid metabolism, prostate-specific antigen and prostate volume in patients with benign prostatic hyperplasia, and to explore the combined effect as diagnostic indicators. A total of 108 patients with benign prostatic hyperplasia treated in Beijing University of Chinese Medicine Third Affiliated Hospital from June 2021 to March 2023 were retrospectively analyzed as the hyperplasia group, and 98 healthy physical examination personnel were selected as the control group during the same period. Compare the differences in levels of fasting plasma glucose (FPG), total cholesterol (TC), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), small and dense low-density lipoprotein cholesterol (sdLDL-C), homocysteine, lipoprotein a (LPa), prostate specific antigen (PSA), and free prostate specific antigen (fPSA) between two groups of patients. Using Pearson analysis method to analyze the correlation between the above indicators and the size of prostate volume in patients with benign prostatic hyperplasia; using multiple linear regression to analyze the influencing factors of prostate volume enlargement; draw receiver operating characteristic (ROC) curves and analyze the application value of individual and combined detection of HDL, FPG, PSA, and fPSA. The results showed that there were significant differences in HDL, FPG, PSA, and fPSA levels between the control group and the proliferative group( P<0.05). The size of prostate volume is negatively correlated with HDL( r=-0.183, P<0.05) and positively correlated with FPG ( r=0.202, P<0.05), PSA( r=0.412, P<0.05), and fPSA( r=0.425, P<0.05). The results of multiple linear regression analysis showed that HDL( P=0.000), FPG( P=0.048), PSA( P=0.044), and fPSA ( P=0.012) were risk factors for increased volume of benign prostatic hyperplasia; ROC curve analysis shows that the AUC of HDL, FPG, PSA, and fPSA combined detection is 0.823, which is better than individual detection. In conclusion,HDL, FPG, PSA, fPSA has close correlation with hyperplasia of prostate, the joint detection may has better prediction for benign prostatic hyperplasia.
10.Application value of preconception expanded carrier screening in Chinese Han population of childbearing age
Li TAN ; Peijuan ZHAO ; Yuefan QI ; Lanlan CHENG ; Guo YU ; Dongmei ZHAO ; Yuxia SONG ; Yungai XIANG ; Xueqi LIANG ; Moran PENG
Chinese Journal of Reproduction and Contraception 2023;43(7):713-717
Objective:To explore the clinical value of preconception expanded carrier screening (PECS) in Chinese Han population of childbearing age.Methods:The gene detection results of infertile couples with PECS in the Reproductive Medicine Center of the Second Affiliated Hospital of Zhengzhou University from September 2019 to May 2022 were analyzed retrospectively. The carrier rate of pathogenic gene, the detection rate of high-risk couples and the clinical outcome of high-risk couples were counted and analyzed.Results:A total of 1 565 patients received PECS and they were all Chinese Han. A total of 504 patients received the 108 extended monogenic diseases testing, including 420 females and 84 males, the overall carrier rate of the target genes was 30.75% (129/420), and the detection rate of high-risk couples was 1.19% (1/84), the higher carrier rates of the tested genes were MMACHC [2.58% (13/504)], ATP7B [2.38% (12/504)], SLC22A5 [2.18% (11/504)], GALC [1.79% (9/504)], PAH [1.79% (9/504)] and MLC1 [1.19% (6/504)], the rest are less than 1%. There were 555 patients accepted FMR1 gene detection, and 5 patients with FMR1 gene mutation, accounting for 0.90%. Testing for direct relatives of patients with complete mutations, her mother is a pre mutation carrier with a CGG repeat count of 105. A total of 502 patients accepted SMN1 gene testing. Totally 14 femals and 2 males were found to be SMN1 gene carriers in this study, with a carrier rate of 3.19%. Conclusion:The carryier rate of single gene recessive disorder is high in the population. Screening before pregnancy can provide birth health guidance for patients, help them to choose preimplantation genetic testing for monogenic/single gene disorders (PGT-M) and prenatal diagnosis, to avoid the birth of silk children.


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