1.Comparison of decompression effects between spine endoscopy hybrid technique and uniportal endoscopic surgery in treatment of lumbar spinal stenosis with bilateral symptom
Song GUO ; Xinhua LI ; Meijun YAN ; Yanbin LIU ; Zhong LIU ; Kewei LI ; Pengcheng LIU ; Beiting ZHANG ; Qiang FU
Chinese Journal of Tissue Engineering Research 2025;29(3):517-523
BACKGROUND:Spinal canal decompression using uniportal endoscopic surgery is a new minimally invasive surgery in the treatment of lumbar spinal stenosis.However,this technique needs a steep learning curve and high requirements for surgical equipment and instruments,which limits its clinical application.We previously use the spinal endoscopy as a monitoring endoscopy and combined with unilateral biportal endoscopy to propose a hybrid technique of spinal endoscopy to achieve coaxial endoscopic operation and hands-separate operation. OBJECTIVE:To compare the clinical outcome of hybrid technique and uniportal endoscopic surgery in treatment of lumbar spinal stenosis with bilateral lower limb pain symptoms. METHODS:Ninety patients diagnosed of lumbar spinal stenosis with bilateral symptoms were included and retrospectively analyzed at First People's Hospital,Shanghai Jiao Tong University from August 2020 to August 2022.44 cases were included in group A(hybrid technique group),while 46 cases were included in group B(uniportal endoscopic surgery).The nerve decompression was observed during the surgery.Operation time,hospital stay time,and expenses were recorded in both groups.The visual analog scale scores of lower back pain and both lower extremities pain,Oswestry disability index scores of quality of life and excellent and good rate of modified Macnab criteria were recorded and compared at preoperative,postoperative 3 days,and postoperative 3 and 6 months. RESULTS AND CONCLUSION:(1)The operation time of group A was significantly shorter than that of group B(P<0.05).(2)The lower back pain and lower extremity pain of the severe side at postoperative 3 days,and 3 and 6 months were significantly relieved in both groups(P<0.05).The visual analog scale score of lower extremity pain on the mild side was significantly decreased at postoperative 3 days,3 and 6 months than preoperative score in the group A(P<0.05).The visual analog scale score of lower extremity pain on the mild side was significantly decreased at postoperative 3 days than preoperative score in the group B(P<0.05).The visual analog scale scores of lower extremity pain on the mild side at postoperative 3 and 6 months did not show significant difference than preoperative score in the group B.The comparison between the two groups showed that there was no significant difference in the visual analog scale scores of postoperative lower back pain and lower extremity pain of the severe side(P>0.05).The visual analog scale scores of lower extremity pain on the mild side in the group A were significantly lower than those of group B at postoperative 3 and 6 months(P<0.05).(3)The Oswestry disability index scores of both groups at postoperative 3 day were significantly lower than preoperative score(P<0.05),and there was no significant difference between the two groups 3 days after operation.Oswestry disability index scores of group A at postoperative 3 and 6 months were significantly decreased than preoperative score(P<0.05).The Oswestry disability index scores of group B at postoperative 3 and 6 months did not show significant differences than preoperative score(P>0.05).The comparison between the two groups showed the Oswestry disability index scores of group A were significantly lower than group B at postoperative 3 and 6 months(P<0.05).(4)The results of modified Macnab showed that the excellent and good rate of group A was significantly higher than that of group B(95%,78%,P<0.05).(5)It is indicated that the hybrid technique is a new spinal endoscopy technique,which has the advantages of less trauma and faster recovery as a minimally invasive surgery.The clinical outcome of hybrid technique is superior to that of uniportal endoscopic surgery in the treatment of lumbar spinal stenosis with bilateral symptoms.Additionally,it also has the advantages of good operational flexibility and high decompression efficiency as an open surgery.
2.Prospective Study on Tooth Loss and Risk of Esophageal Cancer Among Residents of A Natural Village in Wenfeng District, Anyang City, Henan Province
Jingjing WANG ; Ruihua XU ; Yanfang ZHANG ; Xueke ZHAO ; Qiang ZHANG ; Xin SONG ; Mengxia WEI ; Junfang GUO ; Xuena HAN ; Yaru FU ; Bei LI ; Junqing LIU ; Lingling LEI ; Min LIU ; Qide BAO ; Lidong WANG
Cancer Research on Prevention and Treatment 2025;52(7):548-553
Objective To investigate the relationship between tooth loss and the occurrence of esophageal cancer in a natural village in Wenfeng District, Anyang City, Henan Province. Methods A prospective cohort study was conducted to observe the occurrence of tooth loss and esophageal cancer among the asymptomatic residents of the natural village for 16 years from January 2008 to July 2024. Data were analyzed by chi-square test, binary logistic regression, and restricted cubic spline. Results Among the total population of 711 cases, 136 cases were lost to follow-up and 575 cases were included in the final statistics, including 45 cases with esophageal cancer. Significant statistical difference was found between esophageal cancer patients with and without tooth loss (P<0.05). Logistic regression analysis showed that tooth loss was associated with the occurrence of esophageal cancer (OR=3.977, 95%CI: 1.543-10.255). After the adjustment for confounders, tooth loss
3.Early impact of robot-assisted total knee arthroplasty on the treatment of varus knee arthritis.
Xin YANG ; Qing-Hao CHENG ; Fu-Qiang ZHANG ; Hua FAN ; Fu-Kang ZHANG ; Zhuang-Zhuang ZHANG ; Yong-Ze YANG ; An-Ren ZHANG ; Hong-Zhang GUO
China Journal of Orthopaedics and Traumatology 2025;38(4):343-351
OBJECTIVE:
To investigate the clinical efficacy and advantages of robot-assisted total knee arthroplasty (TKA) in patients with varus knee osteoarthritis.
METHODS:
Between October 2022 and June 2023, a total of 59 patients with severe knee osteoarthritis resulting in varus were treated with total knee arthroplasty, aged from 59 to 81 years with an average (70.90±4.63) years, including 19 mals and 40 females. The patients were divided into two groups based on the surgical method used:28 patients in the robot group and 31 patients in the traditional group. The robot group consisted of 8 males and 20 femalse patients, with an average age of (70.54±4.80) years and an average disease duration of (14.89±8.72) months. The traditional group consisted of 11 males and 20 females patients, with an average age of (71.39±4.5) years and an average disease duration of (12.32±6.73) months. The operative duration, amount of bleeding during the operation, postoperative activity time after the operation, hip-knee-ankle angle (HKA), lateral distal femoral angle (LDFA), medial proximal tibial angle (MPTA), and complications were compared between the two groups before and after the operation. Lateral tibia component (LTC), frontal tibia component (FTC), frontal femoral component (FFC) and lateral femoral component (LFC) were measured 6 months after operation Additionally, the degree of knee joint motility, American Knee Society score (KSS), and visual analogue scale(VAS) were compared before and after the operation.
RESULTS:
All patients had gradeⅠwound healing without any complications, and all patients were followed up for 6 to 8 months, with an average of (6.5±1.5) months. There were no significant differences preoperative imaging evaluation indexes (including HKA, LDFA, and MPTA), preoperative knee mobility, preoperative VAS, and preoperative KSS between the two groups (P>0.05). Comparing the operation time (109.11±7.16) min vs. (83.90±7.85) min, length of the incision (16.60±2.33) cm vs. (14.47±1.41) cm, intraoperative bleeding (106.93±6.15) ml vs. (147.97±7.62) ml, postoperative activity time (17.86±1.84) h vs. (21.77±2.68) h, between the two groups showed statistically significant differences (P<0.05). There were significant differences in FFC (88.96±0.84)° vs. (87.93±1.09)° and LFC (88.57±1.10)° vs. (87.16±1.2)° between the two groups at 6 months after operation (P<0.05). The robotic group 1, 3, 6 months after KSS (75.96±3.96), (81.53±3.78), (84.50±3.29) scores, VAS (3.68±0.67), (2.43±0.79), (0.54±0.64), knee joint mobility (113.32±4.72) °, (123.93±3.99) °, (135.36±2.34) °;Traditional group KSS (73.77±4.18), (76.48±3.60), (80.19±3.28) scores, VAS (4.16±1.04), (3.03±0.75), (1.42±0.76) scores, knee joint mobility (109.19±6.95) °, (119.94±6.08) °, (134.48±2.14) °. Compared to before surgery, both groups showed significant improvement in KSS, VAS and knee mobility during the three follow-up visits (P<0.001). Additionally, postoperative HKA (180.39±1.95)° vs. (178.52±2.23)°, LDFA (89.67±0.63) ° vs. (89.63±0.63)°, and MPTA (89.44±0.55)° vs. (89.29±0.60)° were significantly improved in both groups compared to before surgery (P<0.001). The robotic group had higher KSS than the traditional group at 1, 3, and 6 months after surgery (P<0.05). The robotic group also had lower VAS than the traditional group at 1, 3, and 6 months after surgery (P<0.05). Furthermore, knee mobility was higher in the robotic group than those in the traditional group at 1 and 6 months after surgery (P<0.05), but there was no significant difference between the two groups at 6 months after surgery.
CONCLUSION
Robot-assisted total knee arthroplasty is a safe and effective method for total knee replacement. The use of robotics can improve the limb axis and prosthesis alignment for patients with preoperative varus deformity, resulting in better clinical and imaging outcomes compared to the conventional group.
Humans
;
Female
;
Male
;
Arthroplasty, Replacement, Knee/methods*
;
Aged
;
Middle Aged
;
Osteoarthritis, Knee/physiopathology*
;
Aged, 80 and over
;
Robotic Surgical Procedures/methods*
4.Lymph node metastasis in the prostatic anterior fat pad and prognosis after robot-assisted radical prostatectomy.
Zhou-Jie YE ; Yong SONG ; Jin-Peng SHAO ; Wen-Zheng CHEN ; Guo-Qiang YANG ; Qing-Shan DU ; Kan LIU ; Jie ZHU ; Bao-Jun WANG ; Jiang-Ping GAO ; Wei-Jun FU
National Journal of Andrology 2025;31(3):216-221
OBJECTIVE:
To investigate lymph node metastasis (LNM) in the prostatic anterior fat pad (PAFP) of PCa patients after robot-assisted radical prostatectomy (RARP), and analyze the clinicopathological features and prognosis of LNM in the PAFP.
METHODS:
We retrospectively analyzed the clinicopathological data on 1 003 cases of PCa treated by RARP in the Department of Urology of PLA General Hospital from January 2017 to December 2022. All the patients underwent routine removal of the PAFP during RARP and pathological examination, with the results of all the specimens examined and reported by pathologists. Based on the presence and locations of LNM, we grouped the patients for statistical analysis, compared the clinicopathological features between different groups using the Student's t, Mann-Whitney U and Chi-square tests, and conducted survival analyses using the Kaplan-Meier and Log-rank methods and survival curves generated by Rstudio.
RESULTS:
Lymph nodes were detected in 77 (7.7%) of the 1 003 PAFP samples, and LNM in 11 (14.3%) of the 77 cases, with a positive rate of 1.1% (11/1 003). Of the 11 positive cases, 9 were found in the upgraded pathological N stage, and the other 2 complicated by pelvic LNM. The patients with postoperative pathological stage≥T3 constituted a significantly higher proportion in the PAFP LNM than in the non-PAFP LNM group (81.8% [9/11] vs 36.2% [359/992], P = 0.005), and so did the cases with Gleason score ≥8 (87.5% [7/8] vs 35.5% [279/786], P = 0.009). No statistically significant differences were observed in the clinicopathological features and biochemical recurrence-free survival between the patients with PAFP LNM only and those with pelvic LNM only.
CONCLUSION
The PAFP is a potential route to LNM, and patients with LNM in the PAFP are characterized by poor pathological features. There is no statistically significant difference in biochemical recurrence-free survival between the patients with PAFP LNM only and those with pelvic LNM only. Routine removal of the PAFP and independent pathological examination of the specimen during RARP is of great clinical significance.
Humans
;
Male
;
Prostatectomy/methods*
;
Robotic Surgical Procedures
;
Lymphatic Metastasis
;
Retrospective Studies
;
Prognosis
;
Prostatic Neoplasms/pathology*
;
Adipose Tissue/pathology*
;
Prostate/pathology*
;
Lymph Nodes/pathology*
;
Middle Aged
;
Aged
5.Clinical efficacy of microscopic varicocelectomy versus laparoscopic varicocelectomy in the treatment of varicocele with male infertility.
Yu PAN ; Ling FU ; Xiao-Jing GUO ; Wen-Xin LI ; Lin QIAN ; Lei YU ; Hong-Qiang WANG ; Kai-Shu ZHANG ; Shen-Qian LI ; Qiang LI ; Pei-Tao WANG ; Han-Shu WANG ; Tao JING
National Journal of Andrology 2025;31(4):333-337
OBJECTIVE:
To compare the clinical efficacy between microscopic varicocelectomy and laparoscopic varicocelectomy in the treatment of varicocele(VC)with male infertility.
METHODS:
A total of 307 patients who were diagnosed with VC complicated with male infertility and admitted to the Affiliated Hospital of Qingdao University from October 2018 to October 2022 were recruited for retrospective analysis. The patients were divided into the microscopic group (180 cases) and laparoscopic group (127 cases) according to the surgery method. The pre- and postoperative clinical data of these two groups were analyzed, including the degree of dilatation and reflux time of internal spermatic vein,hemodynamic parameters of testicular capsular artery,proportion of progressive motility spermatozoa (PR), concentration of spermatozoa, proportion of normal morphology sperm,the pregnancy outcome of spouses and the incidence of complications related with surgery within 2 years postoperatively.
RESULTS:
All the surgeries for the 307 patients in this study were successful. There was no significant difference in operation time, hospitalization time and management expenses between the microscopic group and the laparoscopic group (P>0.05). Compared to the patients in laparoscopic group, the patients in the microscopic group received a better improvement in venous diameter, reflux time of spermatic veins and hemodynamic parameters of testicular capsular artery (P<0.05). Moreover, the semen analysis showed that the PR, spermatozoa concentration and proportion of normal morphology sperm in the microscopic group were also obviously increased than those in the laparoscopic group (P<0.05). During the 2-year follow-up period, the conception rate of spouses in the microscopic group was 67.2%, while only 47.2% in the laparoscopic group, in which the difference was statistically significant (P<0.05). Besides, the time-to-pregnancy ( TTP ) within 2 years postoperatively in the microscopic group was significantly shorter than that in the laparoscopic group(P<0.05). Meanwhile, the incidence of adverse pregnancy outcomes in the microscopic group was also significantly lower than that in the laparoscopic group (P<0.05). It is worth mentioned that the spontaneous conception rate of spouses with successful pregnancy in the microscopic group was also significantly higher than that in the laparoscopic group (P<0.05). Severe complication such as testicular atrophy, bleeding and infection did not appear in both of two groups. However, the incidences of testicular hydrocele and recurrence of VC postoperatively in the laparoscopic group were significantly higher than those in the microscopic group (P<0.05).
CONCLUSION
Both microscopic varicocelectomy and laparoscopic varicocelectomy can be applied to the management of VC combined with male infertility. But microscopic varicocelectomy showed better clinical efficacy in improving the testicular hemodynamic parameters, semen quality, pregnancy outcome and postoperative complications, which is worthy of further clinical applications.
Humans
;
Male
;
Varicocele/complications*
;
Laparoscopy
;
Infertility, Male/etiology*
;
Retrospective Studies
;
Adult
;
Microsurgery
;
Treatment Outcome
;
Pregnancy
;
Female
6.Effects of Hot Night Exposure on Human Semen Quality: A Multicenter Population-Based Study.
Ting Ting DAI ; Ting XU ; Qi Ling WANG ; Hao Bo NI ; Chun Ying SONG ; Yu Shan LI ; Fu Ping LI ; Tian Qing MENG ; Hui Qiang SHENG ; Ling Xi WANG ; Xiao Yan CAI ; Li Na XIAO ; Xiao Lin YU ; Qing Hui ZENG ; Pi GUO ; Xin Zong ZHANG
Biomedical and Environmental Sciences 2025;38(2):178-193
OBJECTIVE:
To explore and quantify the association of hot night exposure during the sperm development period (0-90 lag days) with semen quality.
METHODS:
A total of 6,640 male sperm donors from 6 human sperm banks in China during 2014-2020 were recruited in this multicenter study. Two indices (i.e., hot night excess [HNE] and hot night duration [HND]) were used to estimate the heat intensity and duration during nighttime. Linear mixed models were used to examine the association between hot nights and semen quality parameters.
RESULTS:
The exposure-response relationship revealed that HNE and HND during 0-90 days before semen collection had a significantly inverse association with sperm motility. Specifically, a 1 °C increase in HNE was associated with decreased sperm progressive motility of 0.0090 (95% confidence interval [ CI]: -0.0147, -0.0033) and decreased total motility of 0.0094 (95% CI: -0.0160, -0.0029). HND was significantly associated with reduced sperm progressive motility and total motility of 0.0021 (95% CI: -0.0040, -0.0003) and 0.0023 (95% CI: -0.0043, -0.0002), respectively. Consistent results were observed at different temperature thresholds on hot nights.
CONCLUSION
Our findings highlight the need to mitigate nocturnal heat exposure during spermatogenesis to maintain optimal semen quality.
Humans
;
Male
;
Semen Analysis
;
Adult
;
Sperm Motility
;
Hot Temperature/adverse effects*
;
China
;
Middle Aged
;
Spermatozoa/physiology*
;
Young Adult
7.Effects of micro-electric field on proliferation and osteogenic differentiation of human umbilical cord mesenchymal stem cells
Zhong LIU ; Kewei LI ; Min WANG ; Wenhui LIU ; Leilei ZHANG ; Song GUO ; Hui QIAN ; Qiang FU
Chinese Journal of Tissue Engineering Research 2024;28(13):1983-1988
BACKGROUND:Electrical stimulation is a physical method that can be used to induce various cellular activities such as cell proliferation,differentiation,and apoptosis.The induction of osteogenic differentiation of stem cells will be beneficial in the field of bone regeneration. OBJECTIVE:To observe whether micro-current field can promote the proliferation and osteogenic differentiation of human umbilical cord mesenchymal stem cells. METHODS:The fresh human umbilical cord tissue was cut to obtain umbilical cord mesenchymal stem cells,which were inoculated into a 6-well plate after cell culture and passage to the third generation.After 24 hours,the cells were cultured under a stimulation of 0,50,and 100 mV/mm micro-electric field,at a frequency of 1 hour per day for 3 continuous days.The growth and morphological changes of human umbilical cord mesenchymal stem cells were observed by a microscope.The cell proliferation was detected by CCK-8 assay and EdU staining.Alizarin red staining was used to detect the osteogenic differentiation ability of cells.Western blot assay was used to determine the expression of ERK signal pathway proteins. RESULTS AND CONCLUSION:(1)The optical density value and the number of proliferating cells in 50 and 100 mV/mm groups were significantly higher than those of the unstimulated group(P<0.05).(2)Human umbilical cord mesenchymal stem cells could be induced to differentiate into osteocytes before and after micro-electric field stimulation,but the differentiation rate of 50 and 100 mV/mm groups was faster than that of unstimulated groups.(3)The protein expression of p-ERK1/2 in the 50 and 100 mV/mm groups was higher than that in the unstimulated group,and significant difference was detected between the 100 mV/mm group and the unstimulated group(P<0.05).(4)Micro-electric field can promote the proliferation of human umbilical cord mesenchymal stem cells,and the mechanism may be achieved by promoting the phosphorylation of ERK.
8.Multi-parametric MRI radiomics-based nomogram model for predicting the lymphovascular space invasion of endometrial endometrioid adenocarcinoma
Xiao-Liang MA ; Min-Hua SHEN ; Feng-Hua MA ; Guo-Fu ZHANG ; Jian-Jun ZHOU ; Meng-Su ZENG ; Jin-Wei QIANG
Fudan University Journal of Medical Sciences 2024;51(3):306-314,322
Objective To investigate the feasibility and value of a multi-parametric MRI radiomics-based nomogram model for pretreatment predicting the lymphovascular space invasion(LVSI)of endometrial endometrioid adenocarcinoma(EEA).Methods Preoperative MRI and baseline clinical characteristics of 205 EEA patients were prospectively collected from Oct 2020 to Jan 2022 in the Obstetrics and Gynecology Hospital,Fudan University,and randomly divided into training set(n=123)and validation set(n=82)in a 6∶4 ratio.The whole-tumor region of interest was manually drawn on T2-weighted imaging,diffusion-weighted imaging(apparent diffusion coefficient),and dynamic contrast-enhanced MRI,respectively,for radiomics features extraction.In the training set,univariate and multivariate Logistic regression analysis were used to select independent clinical predictors of LVSI(+)and construct the clinical model.The least absolute shrinkage and selection operator(LASSO)regression and multivariate Logistic regression analysis were used to select optimal radiomics features to form a radiomics signature.A combined nomogram model was established by integrating clinical independent predictors and the radiomics signature,and validated in the validation set.The predicting performance and clinical net benefit were evaluated by using the area under the receiver operating characteristic curve(AUC)and clinical decision curve analysis,respectively.Results Of the 205 EEA cases,144 cases were LVSI(-)and 61 cases were LVSI(+).Menopausal status,CA125,and CA199 were independent clinical predictors for the LVSI(+),and contributing to a clinical model with AUCs of 0.714(training)and 0.731(validation).From 8 240 extracted radiomics features,five were selected to construct a MRI radiomics signature after de-redundancy and LASSO dimensionality reduction,yielding AUCs of 0.860(training)and 0.759(validation).The combined nomogram model showed AUCs of 0.887(training)and 0.807(validation),outperforming others and achieving maximum clinical benefit in a large range of threshold probability in both training and validation sets.Conclusion The multi-parametric MRI-based nomogram model has the potential for pretreatment predicting the LVSI status of EEA,providing valuable information for clinical management decision-making and improving patient's clinical benefits.
9.Inhibition of glutamatergic neurons in the dorsomedial periaqueductal gray alleviates excessive defensive behaviors of mice with post-traumatic stress disorder
Yanxiang LI ; Yongxin GUO ; Fuyang CAO ; Shuting GUO ; Dinghao XUE ; Zhikang ZHOU ; Xinyu HAO ; Li TONG ; Qiang FU
Journal of Southern Medical University 2024;44(3):420-427
Objective To investigate the role of glutamatergic neurons in the dorsomedial periaqueductal grey(dmPAG)in regulating excessive defensive behaviors in mice with post-traumatic stress disorder(PTSD).Methods Eight-week-old male C57BL/6 mice were subjected to stereotactic injections of different recombinant adeno-associated viral vectors(rAAV2/9-CaMKⅡ-mCherry,rAAV2/9-CaMKⅡ-hM3Dq-mCherry and rAAV2/9-CaMKⅡ-hM4Di-mCherry)into the bilateral dmPAG for chemogenetic activation or inhibition of the glutamatergic neurons,followed 2 weeks later by PTSD modeling by single prolonged stress.The looming test,response to whisker stimulation test and contextual fear conditioning(CFC)test were used to observe changes in defensive behaviors of the PTSD mice.The activity of glutamatergic neurons in the dmPAG were observed using immunofluorescence staining.Results Compared with the control mice,the mouse models of PTSD showed a shortened latency of flights with increased time spent in the nest,response scores of defensive behaviors and freezing time(all P<0.01).Immunofluorescence staining revealed significantly increased c-fos-positive glutamatergic neurons in the dmPAG of PTSD mice with defensive behaviors.Activation of the glutamatergic neurons in the dmPAG(in PTSD hM3Dq group)did not cause significant changes in the latency of flights or time in nest but obviously increased response scores of defensive behaviors and freezing time of the mice,whereas inhibiting the glutamatergic neurons in the dmPAG(in PTSD hM4Di group)caused the reverse changes and obviously alleviated defensive behaviors in the PTSD mice(P<0.05 or 0.01).Conclusion Inhibiting the activity of glutamatergic neurons in the dmPAG can alleviate defensive behaviors in mice with PTSD.
10.Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China
Chuan ZHANG ; Ling HUI ; Bing-Bo ZHOU ; Lei ZHENG ; Yu-Pei WANG ; Sheng-Ju HAO ; Zhen-Qiang DA ; Ying MA ; Jin-Xian GUO ; Zong-Fu CAO ; Xu MA
Chinese Journal of Contemporary Pediatrics 2024;26(1):67-71
Objective To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder(IMD)among neonates in Gansu Province of China.Methods A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021.A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination.Results A total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates,and the overall prevalence rate of IMD was 0.63‰(1/1 593),among which phenylketonuria showed the highest prevalence rate of 0.32‰(1/3 083),followed by methylmalonic acidemia(0.11‰,1/8 959)and tetrahydrobiopterin deficiency(0.06‰,1/15 927).In this study,166 variants were identified in the 28 pathogenic genes,with 13 novel variants found in 9 genes.According to American College of Medical Genetics and Genomics guidelines,5 novel variants were classified as pathogenic variants,7 were classified as likely pathogenic variants,and 1 was classified as the variant of uncertain significance.Conclusions This study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.

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