1.Correlation between heart rate variability and extracurricular physical exercise of primary and middle school students in Chengdu City
PAN Zhongjin, ZHANG Yihong, HE Zhongtao, LIU Jianyu, ZHENG Xiao, SHAO Ping
Chinese Journal of School Health 2025;46(7):961-964
Objective:
To investigate the impact of extracurricular physical activity on heart rate variability (HRV) among primary and secondary school students in Chengdu City, so ao to provide references for scientific exercise prescription.
Methods:
Using a convenient sampling method, 1 323 primary and secondary students were enrolled from central Chengdu who underwent physical fitness assessments at Sichuan Provincial Institute of Sports Science from September 2020 to January 2022. According to the standards of the National Physical Fitness Monitoring Center, boys and girls were divided into groups with and without extracurricular physical exercise habits. HRV was monitored using the SA-3000P device. Key HRV parameters were evaluated separately by gender, including standard deviation of normal to normal intervals (SDNN), root mean square of successive differences (rMSSD), total power (TP), low frequency power (LF) and high frequency power (HF). Statistical analyses were employed by t-test, Mann-Whitney U-test and Chi square test.
Results:
lgSDNN, lgrMSSD, TP, LF and HF in the group without extracurricular physical exercise habit [boys:(1.67±0.13)ms, (1.59±0.20)ms, (7.34±0.73)ms 2, (6.11±0.74)ms 2, (6.05±0.87)ms 2; girls:(1.67± 0.13)ms , (1.59±0.19)ms, (7.35±0.60)ms 2, (6.06±0.69)ms 2, (6.12±0.87)ms 2] were lower than those in the group with extracurricular physical exercise habit [boys:(1.75±0.13)ms, (1.72±0.18)ms, (7.69±0.62)ms 2, (6.41±0.76)ms 2, (6.44±0.79)ms 2;girls:(1.73±0.13)ms, (1.68±0.20)ms, (7.60±0.65)ms 2, (6.26±0.86)ms 2, (6.36±0.90)ms 2] ( t =-8.24, -8.75, -6.54, -5.35 , -6.33;-5.10,-4.90,-4.47,-2.71,-2.93, all P <0.01). Only the group of boys without extracurricular physical exercise habits showed a decrease in lgLF/HF [0.04(-0.19,0.27)] compared to the group with extracurricular physical exercise habits [ -0.03 (-0.25,0.20)] ( Z=-2.01, P <0.05). When the score classes of autonomic nerve activity, stress index and fatigue index were compared between boys and girls groups without and with extracurricular physical exercise habits, the proportion of boys normal and above scores increased from 79.3%, 84.1%, 71.8% to 91.4%, 95.7%, 87.3%, respectively, and the differences were statistically significant ( χ 2=47.42, 63.66, 38.28); the proportion of girls normal score and above increased from 79.8%, 85.7%, 75.0% to 85.4%, 92.1%, 79.4%, and the differences were statistically significant ( χ 2=48.31, 22.18, 22.22) (all P <0.01).
Conclusion
The primary and secondary school students who have the habit of extracurricular physical exercise have enhanced compliance in indicators related to HRV, showing more complex heart rate variability.
2.Construction and application of a quality control and improvement system for metabolic and bariatric surgery in Beijing
Peirong TIAN ; Mengyi LI ; Jingli LIU ; Rixing BAI ; Jingtao BI ; Guanglong DONG ; Yanmin DU ; Jiagang HAN ; Wei HAN ; Yong JIANG ; Yuanxin LI ; Zhifei LI ; Hongwei LIN ; Diangang LIU ; Yang LIU ; Fanqiang MENG ; Runhong NI ; Jinghai SONG ; Qiang XU ; Wenmao YAN ; Nengwei ZHANG ; Chaohui ZHONG ; Peng ZHANG ; Zhongtao ZHANG
Chinese Journal of Surgery 2025;63(7):624-629
Objective:To establish and assess the quality control and improvement system for metabolic and bariatric surgery in Beijing.Methods:Based on relevant documents from the National Health Commission and the Beijing Municipal Health Commission,and referencing the Metabolic and Bariatric Surgery Accreditation and Quality Improvement Program (MBSAQIP) by the American Society for Metabolic and Bariatric Surgery,a quality control system was developed under the Beijing Quality Control and Improvement Center of Metabolic and Bariatric Surgery. The system incorporated on-site evaluations,data registration,and specialized training. From May to December 2023,on-site assessments were conducted at 21 hospitals in Beijing performing bariatric surgery,evaluating personnel qualifications,infrastructure,clinical workflows,and postoperative follow-up. A quality control database was created to collect real-time surgical data,and training was provided for data entry and professional skills. Assessment results were classified as excellent,qualified,or needing improvement,with rectification suggestions offered and follow-up visits conducted to track progress.Results:All 21 hospitals achieved a 100% compliance rate for surgical indications, 16 (76.2%) met standardized surgical operation criteria,and 14 (66.7%) had standardized postoperative management. However,only 5 (23.8%) achieved a 12-month postoperative follow-up rate of ≥60%,and 4 (19.1%) had established specialized databases. Key challenges included insufficient specialized staffing (19.1%), lack of multidisciplinary collaboration (47.6%), inadequate equipment (57.1%), and low follow-up rates (57.1%). The database collected data from over 2 000 patients across 111 fields. After rectification, specialized database coverage rose to 61.9% (13 hospitals). Multi-level training programs developed backbone physicians and specialized nurses,significantly addressing the shortage of specialized personnel.Conclusion:The quality control system established in this study,through the integration of on-site evaluation,data registration,and specialized training,effectively enhances the standardization of surgical practices and data management capabilities.
3.Advances in the application of endoscopic techniques in postoperative complications after bariatric-metabolic surgery
Yiqiao ZHANG ; Yang LIU ; Zhongtao ZHANG
Chinese Journal of General Surgery 2025;34(4):614-624
Obesity,as a major global public health issue,has seen effective improvements in body weight and metabolic disorders through bariatric-metabolic surgeries such as Roux-en-Y gastric bypass(RYGB)and sleeve gastrectomy(SG).However,the management of postoperative complications remains a significant clinical challenge.Gastrointestinal leakage/fistula is one of the more severe complications,and current endoscopic treatment options include stent placement,double-pigtail stent internal drainage,over-the-scope clips,endoscopic suturing,tissue adhesive sealing,negative pressure drainage systems,and gastric wall incision.The combination with laparoscopic techniques can further enhance treatment efficacy.For SG-related torsion or stenosis,endoscopic balloon dilation is the first-line approach.In refractory cases,additional therapies such as endoscopic radial incision or modified gastric peroral endoscopic myotomy(G-POEM)may be required.G-POEM offers particular advantages in treating non-spiral stenosis but remains limited in practice due to technical complexity.Postoperative gastrointestinal bleeding requires stratified management:thermal coagulation or hemostatic clips can be used in acute bleeding;marginal ulcer bleeding at the gastrojejunostomy site after RYGB responds well to endoscopic treatment,while bleeding at the jejunojejunostomy site often requires enteroscopy or reoperation.Anatomical changes after RYGB increase the complexity of managing common bile duct stones.Among improved endoscopic retrograde cholangiopancreatography(ERCP)techniques,endoscopic ultrasound-guided transgastric ERCP has emerged as a minimally invasive and efficient option,though its long-term safety remains to be fully validated.For patients experiencing weight regain,endoscopic interventions include endoscopic sleeve gastroplasty and transoral outlet reduction(TORe),with TORe offering the dual benefits of narrowing the anastomosis and relieving dumping syndrome.The risk of gastroesophageal reflux disease increases after SG;balloon dilation can relieve reflux caused by anatomical stenosis,while emerging techniques such as anti-reflux mucosal resection and anti-reflux mucosal ablation are still under exploration.In refractory GERD cases,conversion to RYGB remains the mainstream solution.Overall,endoscopic techniques have significantly reduced reoperation rates through diverse strategies,but a balance must be maintained between procedural complexity and long-term efficacy.Future efforts should focus on device innovation,standardization of procedures,and multidisciplinary collaboration to improve the comprehensive management of complications following bariatric-metabolic surgery.
4.Relationship between pan-immune inflammation value and disease severity and outcome in patients with acute respiratory distress syndrome
Zhongtao LIU ; Fanjie ZHAO ; Liangyu LI
International Journal of Laboratory Medicine 2025;46(15):1844-1848
Objective To investigate the relationship between pan-immune inflammation value(PIV)and the disease severity and outcome of acute respiratory distress syndrome(ARDS).Methods A total of 162 ARDS patients admitted to the hospital from February 2023 to February 2024 were selected as the study group,which were divided into mild group(n=52),moderate group(n=65)and severe group(n=45)ac-cording to the severity of the disease,and death group(n=37)and survival group(n=125)according to the 28 d disease outcome.Another 116 healthy people in the same hospital during the same period were selected as the control group.Neutrophil count(NEUT),platelet count(PLT),monocyte count(MONO)and lympho-cyte count(LYMPH)in peripheral blood of each group were detected,and PIV was calculated.Pearson corre-lation analysis was used to analyze the correlation between PIV and disease severity in ARDS patients.Receiv-er operating characteristic(ROC)curve was used to evaluate the diagnostic value of PIV for the disease out-come of ARDS patients.Binary Logistic stepwise regression analysis was used to analyze the related factors af-fecting the outcome of ARDS patients.Results Peripheral blood PIV in the study group was significantly higher than that in the control group(P<0.05).The severe group had a significantly higher peripheral blood PIV than the moderate disease and mild group(P<0.05),and the moderate group had a significantly higher peripheral blood PIV than the mild group(P<0.05).Pearson correlation analysis showed that PIV was nega-tively correlated with arterial partial pressure of oxygen/fraction of inspired oxygen(PaO2/FiO2)in ARDS patients(r=-0.452,P<0.001).Sequential organ failure assessment(SOFA)score,acute physiology and chronic health evaluation(APACHE)Ⅱ score,white blood cell count,C-reactive protein and PIV in the death group were significantly higher than those in the survival group(P<0.05),PaO2/FiO2 was significantly low-er than that in the survival group(P<0.05).ROC curve analysis showed that the area under the curve of PIV to diagnose the disease outcome of ARDS patients was 0.906(95%CI:0.865-0.956).Binary Logistic step-wise regression analysis showed that SOFA score>11.84 points(OR=2.591,95%CI:1.639-3.964),A-PACHEⅡ score>20.65 points(OR=3.367,95%CI:1.863-6.086),PaO2/FiO2>115.62 mmHg(OR=2.106,95%CI:1.521-2.916),PIV>465.52(OR=3.931,95%CI:2.075-7.448)were risk factors for the outcome of ARDS patients(P<0.05).Conclusion PIV is abnormally elevated in ARDS patients,and is closely related to the severity and outcome of the disease.It can be used as an effective indicator for early diag-nosis of the disease outcome in patients with ARDS.
5.Clinical characteristics of locally advanced rectal cancer patients with pathological complete response after neoadjuvant chemoradiotherapy combined with immunotherapy: a national multicenter study
Jiale GAO ; Yuanyuan2 YANG ; Zhengyang YANG ; Jiagang3 HAN ; Ang? LI ; Gang? LIU ; Yi? SUN ; Liting SUN ; Pengyu WEI ; Jianyong ZHENG ; Hongwei YAO ; Zhongtao ZHANG
Chinese Journal of Digestive Surgery 2025;24(6):739-745
Objective:To analyze the clinical characteristics of locally advanced rectal cancer patients with pathological complete response (pCR) after neoadjuvant chemoradiotherapy combined with immunotherapy.Methods:The retrospective cohort study was conducted. The clinicopatholo-gical data of 46 patients with locally advanced rectal cancer who were admitted to 6 medical centers, including Beijing Friendship Hospital of Capital Medical University et al, from June 2021 to November 2022 were collected. There were 29 males and 17 females, aged (61±4)years. Patients received neoadjuvant chemoradiotherapy combined with immune checkpoint inhibitor therapy, and under-went radical total mesorectal excision during 6-12 weeks after radiotherapy. Observation indicators: (1) comparison of clinical characteristics between pCR and non-pCR patients;(2) postoperative complications and adverse reactions of pCR and non-pCR patients. Comparison of measurement data with normal distribution between groups was conducted using the t test. Comparison of measurement data with skewed distribution between groups was conducted using the Mann-Whitney U test. Comparison of count data between groups was conducted using the chi-square test or Fisher exact probability. Comparison of ordinal data between groups was conducted using the Mann-Whitney U test. Results:(1) Comparison of clinical characteristics between pCR and non-pCR patients. Before neoadjuvant therapy, there were 14 cases aged ≥50 years and 6 cases aged <50 years in pCR patients, versus 25 cases and 1 case in non-pCR patients, showing a significant difference between the two groups ( P<0.05). After neoadjuvant therapy, cases in clinical stage T0, T1, T2, T3, T4 were 11, 1, 5, 3, 0 for pCR patients versus 7, 4, 2, 11, 2 for non-pCR patients, cases of tumor regression grade 1, 2, 3, 4 were 11, 8, 1, 0 for pCR patients versus 7, 14, 4, 1 for non-pCR patients, cases in low-risk, medium-risk, high-risk of neoadjuvant rectal scoring and grading were 20, 0, 0 for pCR patients versus 4, 18, 4 for non-pCR patients, respectively, showing significant differences in above indicators between the two groups ( Z=-2.256, -2.104, -5.458, P<0.05). (2) Postoperative complications and adverse reactions of pCR and non-pCR patients. Postoperative complications occurred in 2 cases of pCR patients and 5 cases of non-pCR patients, postoperative adverse reactions occurred in 11 cases of pCR patients and 10 cases of non-pCR patients, showing no significant difference between the two groups ( P>0.05). Conclusion:Compared with locally advanced rectal cancer patients aged ≥50 years, those aged <50 years have significant benefits from neoadjuvant chemoradiotherapy combined with immunotherapy. Clinical T staging and magnetic resonance imaging-detected tumor regression grade after neoadjuvant therapy have predictive value for patients with pCR .
6.Osteopathia striata with cranial sclerosis caused by the AMER1 gene variant
Jian MA ; Xiao CHEN ; Yuqiang LYU ; Min GAO ; Rui DONG ; Zhongtao GAI ; Yi LIU
Chinese Journal of Applied Clinical Pediatrics 2025;40(1):60-63
A retrospective analysis was made on clinical data of a child with osteopathia striata with cranial sclerosis (OS-CS) diagnosed in the Department of Neonatology, Children′s Hospital Affiliated to Shandong University in January 2024.The proband was admitted to hospital due to premature delivery at 30 + 2 weeks, shortness of breath and poor response for 13 days after resuscitation.After birth, the child had no spontaneous breathing with floppy limbs.Tracheal intubation was required for positive pressure ventilation.Cranial ultrasound showed right subventricular hemorrhage with bilateral intraventricular hemorrhage and bilateral parieto-occipital subdural hemorrhage; cardiac ultrasound showed patent ductus arteriosus and tricuspid regurgitation; scrotal ultrasound showed bilateral inguinal cryptorchidism with right testicular hydrocele; gastrointestinal ultrasound showed that the lumen of the transverse colon was filled with many fecal matters with strong echoes.Whole exome sequencing(WES) indicated that the proband carried a hemizygous variant of c. 1489C>T(p.Arg497 *) in the AMER1 gene, which was inherited from his mother, as verified by Sanger sequencing.The hemizygous variant of c. 1489C>T(p.Arg497 *) in the AMER1 gene was rated as likely pathogenic (PVS1+ PM2-Supporting) according to the American College of Medical Genetics and Genomics(ACMG) guidelines, which was not included in the Human Gene Mutation Database(HGMD) database.High-throughput sequencing identified the hemizygous variant of c. 1489C>T(p.Arg497 *) in the AMER1 gene as the genetic etiology of the proband.This was the first report of AMER1 gene variant leading to OS-CS in China.The study enriches the variation spectrum and clinical phenotype spectrum of the AMER1 gene, providing a valuable foundation for clinical diagnosis, treatment, and subsequent research of the disease.
7.Construction and application of a quality control and improvement system for metabolic and bariatric surgery in Beijing
Peirong TIAN ; Mengyi LI ; Jingli LIU ; Rixing BAI ; Jingtao BI ; Guanglong DONG ; Yanmin DU ; Jiagang HAN ; Wei HAN ; Yong JIANG ; Yuanxin LI ; Zhifei LI ; Hongwei LIN ; Diangang LIU ; Yang LIU ; Fanqiang MENG ; Runhong NI ; Jinghai SONG ; Qiang XU ; Wenmao YAN ; Nengwei ZHANG ; Chaohui ZHONG ; Peng ZHANG ; Zhongtao ZHANG
Chinese Journal of Surgery 2025;63(7):624-629
Objective:To establish and assess the quality control and improvement system for metabolic and bariatric surgery in Beijing.Methods:Based on relevant documents from the National Health Commission and the Beijing Municipal Health Commission,and referencing the Metabolic and Bariatric Surgery Accreditation and Quality Improvement Program (MBSAQIP) by the American Society for Metabolic and Bariatric Surgery,a quality control system was developed under the Beijing Quality Control and Improvement Center of Metabolic and Bariatric Surgery. The system incorporated on-site evaluations,data registration,and specialized training. From May to December 2023,on-site assessments were conducted at 21 hospitals in Beijing performing bariatric surgery,evaluating personnel qualifications,infrastructure,clinical workflows,and postoperative follow-up. A quality control database was created to collect real-time surgical data,and training was provided for data entry and professional skills. Assessment results were classified as excellent,qualified,or needing improvement,with rectification suggestions offered and follow-up visits conducted to track progress.Results:All 21 hospitals achieved a 100% compliance rate for surgical indications, 16 (76.2%) met standardized surgical operation criteria,and 14 (66.7%) had standardized postoperative management. However,only 5 (23.8%) achieved a 12-month postoperative follow-up rate of ≥60%,and 4 (19.1%) had established specialized databases. Key challenges included insufficient specialized staffing (19.1%), lack of multidisciplinary collaboration (47.6%), inadequate equipment (57.1%), and low follow-up rates (57.1%). The database collected data from over 2 000 patients across 111 fields. After rectification, specialized database coverage rose to 61.9% (13 hospitals). Multi-level training programs developed backbone physicians and specialized nurses,significantly addressing the shortage of specialized personnel.Conclusion:The quality control system established in this study,through the integration of on-site evaluation,data registration,and specialized training,effectively enhances the standardization of surgical practices and data management capabilities.
8.Advances in the application of endoscopic techniques in postoperative complications after bariatric-metabolic surgery
Yiqiao ZHANG ; Yang LIU ; Zhongtao ZHANG
Chinese Journal of General Surgery 2025;34(4):614-624
Obesity,as a major global public health issue,has seen effective improvements in body weight and metabolic disorders through bariatric-metabolic surgeries such as Roux-en-Y gastric bypass(RYGB)and sleeve gastrectomy(SG).However,the management of postoperative complications remains a significant clinical challenge.Gastrointestinal leakage/fistula is one of the more severe complications,and current endoscopic treatment options include stent placement,double-pigtail stent internal drainage,over-the-scope clips,endoscopic suturing,tissue adhesive sealing,negative pressure drainage systems,and gastric wall incision.The combination with laparoscopic techniques can further enhance treatment efficacy.For SG-related torsion or stenosis,endoscopic balloon dilation is the first-line approach.In refractory cases,additional therapies such as endoscopic radial incision or modified gastric peroral endoscopic myotomy(G-POEM)may be required.G-POEM offers particular advantages in treating non-spiral stenosis but remains limited in practice due to technical complexity.Postoperative gastrointestinal bleeding requires stratified management:thermal coagulation or hemostatic clips can be used in acute bleeding;marginal ulcer bleeding at the gastrojejunostomy site after RYGB responds well to endoscopic treatment,while bleeding at the jejunojejunostomy site often requires enteroscopy or reoperation.Anatomical changes after RYGB increase the complexity of managing common bile duct stones.Among improved endoscopic retrograde cholangiopancreatography(ERCP)techniques,endoscopic ultrasound-guided transgastric ERCP has emerged as a minimally invasive and efficient option,though its long-term safety remains to be fully validated.For patients experiencing weight regain,endoscopic interventions include endoscopic sleeve gastroplasty and transoral outlet reduction(TORe),with TORe offering the dual benefits of narrowing the anastomosis and relieving dumping syndrome.The risk of gastroesophageal reflux disease increases after SG;balloon dilation can relieve reflux caused by anatomical stenosis,while emerging techniques such as anti-reflux mucosal resection and anti-reflux mucosal ablation are still under exploration.In refractory GERD cases,conversion to RYGB remains the mainstream solution.Overall,endoscopic techniques have significantly reduced reoperation rates through diverse strategies,but a balance must be maintained between procedural complexity and long-term efficacy.Future efforts should focus on device innovation,standardization of procedures,and multidisciplinary collaboration to improve the comprehensive management of complications following bariatric-metabolic surgery.
9.Clinical characteristics of locally advanced rectal cancer patients with pathological complete response after neoadjuvant chemoradiotherapy combined with immunotherapy: a national multicenter study
Jiale GAO ; Yuanyuan2 YANG ; Zhengyang YANG ; Jiagang3 HAN ; Ang? LI ; Gang? LIU ; Yi? SUN ; Liting SUN ; Pengyu WEI ; Jianyong ZHENG ; Hongwei YAO ; Zhongtao ZHANG
Chinese Journal of Digestive Surgery 2025;24(6):739-745
Objective:To analyze the clinical characteristics of locally advanced rectal cancer patients with pathological complete response (pCR) after neoadjuvant chemoradiotherapy combined with immunotherapy.Methods:The retrospective cohort study was conducted. The clinicopatholo-gical data of 46 patients with locally advanced rectal cancer who were admitted to 6 medical centers, including Beijing Friendship Hospital of Capital Medical University et al, from June 2021 to November 2022 were collected. There were 29 males and 17 females, aged (61±4)years. Patients received neoadjuvant chemoradiotherapy combined with immune checkpoint inhibitor therapy, and under-went radical total mesorectal excision during 6-12 weeks after radiotherapy. Observation indicators: (1) comparison of clinical characteristics between pCR and non-pCR patients;(2) postoperative complications and adverse reactions of pCR and non-pCR patients. Comparison of measurement data with normal distribution between groups was conducted using the t test. Comparison of measurement data with skewed distribution between groups was conducted using the Mann-Whitney U test. Comparison of count data between groups was conducted using the chi-square test or Fisher exact probability. Comparison of ordinal data between groups was conducted using the Mann-Whitney U test. Results:(1) Comparison of clinical characteristics between pCR and non-pCR patients. Before neoadjuvant therapy, there were 14 cases aged ≥50 years and 6 cases aged <50 years in pCR patients, versus 25 cases and 1 case in non-pCR patients, showing a significant difference between the two groups ( P<0.05). After neoadjuvant therapy, cases in clinical stage T0, T1, T2, T3, T4 were 11, 1, 5, 3, 0 for pCR patients versus 7, 4, 2, 11, 2 for non-pCR patients, cases of tumor regression grade 1, 2, 3, 4 were 11, 8, 1, 0 for pCR patients versus 7, 14, 4, 1 for non-pCR patients, cases in low-risk, medium-risk, high-risk of neoadjuvant rectal scoring and grading were 20, 0, 0 for pCR patients versus 4, 18, 4 for non-pCR patients, respectively, showing significant differences in above indicators between the two groups ( Z=-2.256, -2.104, -5.458, P<0.05). (2) Postoperative complications and adverse reactions of pCR and non-pCR patients. Postoperative complications occurred in 2 cases of pCR patients and 5 cases of non-pCR patients, postoperative adverse reactions occurred in 11 cases of pCR patients and 10 cases of non-pCR patients, showing no significant difference between the two groups ( P>0.05). Conclusion:Compared with locally advanced rectal cancer patients aged ≥50 years, those aged <50 years have significant benefits from neoadjuvant chemoradiotherapy combined with immunotherapy. Clinical T staging and magnetic resonance imaging-detected tumor regression grade after neoadjuvant therapy have predictive value for patients with pCR .
10.Osteopathia striata with cranial sclerosis caused by the AMER1 gene variant
Jian MA ; Xiao CHEN ; Yuqiang LYU ; Min GAO ; Rui DONG ; Zhongtao GAI ; Yi LIU
Chinese Journal of Applied Clinical Pediatrics 2025;40(1):60-63
A retrospective analysis was made on clinical data of a child with osteopathia striata with cranial sclerosis (OS-CS) diagnosed in the Department of Neonatology, Children′s Hospital Affiliated to Shandong University in January 2024.The proband was admitted to hospital due to premature delivery at 30 + 2 weeks, shortness of breath and poor response for 13 days after resuscitation.After birth, the child had no spontaneous breathing with floppy limbs.Tracheal intubation was required for positive pressure ventilation.Cranial ultrasound showed right subventricular hemorrhage with bilateral intraventricular hemorrhage and bilateral parieto-occipital subdural hemorrhage; cardiac ultrasound showed patent ductus arteriosus and tricuspid regurgitation; scrotal ultrasound showed bilateral inguinal cryptorchidism with right testicular hydrocele; gastrointestinal ultrasound showed that the lumen of the transverse colon was filled with many fecal matters with strong echoes.Whole exome sequencing(WES) indicated that the proband carried a hemizygous variant of c. 1489C>T(p.Arg497 *) in the AMER1 gene, which was inherited from his mother, as verified by Sanger sequencing.The hemizygous variant of c. 1489C>T(p.Arg497 *) in the AMER1 gene was rated as likely pathogenic (PVS1+ PM2-Supporting) according to the American College of Medical Genetics and Genomics(ACMG) guidelines, which was not included in the Human Gene Mutation Database(HGMD) database.High-throughput sequencing identified the hemizygous variant of c. 1489C>T(p.Arg497 *) in the AMER1 gene as the genetic etiology of the proband.This was the first report of AMER1 gene variant leading to OS-CS in China.The study enriches the variation spectrum and clinical phenotype spectrum of the AMER1 gene, providing a valuable foundation for clinical diagnosis, treatment, and subsequent research of the disease.


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