1.Longitudinal cohort study on pubertal development trajectories of testicular and breast development among children
Chinese Journal of School Health 2026;47(3):408-412
Objective:
To characterize longitudinal trajectories of testicular development in boys and breast development in girls, so as to provide reference data for understanding patterns of pubertal sexual maturation.
Methods:
Based on the Shanghai Pudong New Area Cohort Study on Growth, Development and Health in Children and Adolescents, a baseline survey was conducted in 2020 using a mult stage cluster random sampling method. A total of 2 184 children who completed all follow ups during the primary school period from 13 elementary schools in Pudong New Area,Shanghai,with annual follow ups during 2021-2025. Testicular volume and Tanner stage of breast development were assessed by professional physicians using standardized visual inspection and palpation. The age distribution of testicular volume and breast development was fitted by using cumulative link mixed models and Turnbull s nonparametric maximum likelihood estimation method.
Results:
Median ages for testicular volumes of 2, 3, 4 and 5 mL in boys were 7.07, 9.24, 10.29, and 11.57 years old, respectively. Median ages for Tanner breast stages Ⅱ, Ⅲ, Ⅳ, and Ⅴ in girls were 8.55 , 10.17, 11.18, and 13.78 years old, respectively. Based on overweight and obesity, stratified analysis showed that earlier pubertal onset among overweight/obesity children, and the key milestones for pubertal initiation were testicular volume reaching 4 mL in boys and breast Tanner II in girls for 10.29, 10.83; 8.18, 9.00 years.
Conclusion
Overweight and obesity are associated with earlier pubertal initiation,but there are certain gender and developmental stage specific patterns.
2.Development and application of quick response code for prediction of healthcare-associated infection risks in ICU inpatients
Man ZHANG ; Yongsheng LIANG ; Huai YANG ; Jiangnan SUN ; Xi WANG ; Zidi XU ; Jie SONG ; Yanli ZHANG ; Di ZHAO ; Rui WANG ; Chengsong ZHAO ; Xin NI
Chinese Journal of Infection Control 2025;24(9):1259-1268
Objective To identify high-risk factors for healthcare-associated infection(HAI)in patients in inten-sive care units(ICUs),and develop a quick response(QR)code-based APP prediction tool.Methods Information of inpatients in general ICUs of three hospitals in Guizhou Province from January to December 2024 were collected.Risk factors were analyzed with a logistic regression model.QR code-based APP was constructed and validated.Results A total of 1 782 patients in general ICUs of three hospitals in Guizhou Province in 2024 were included in the analysis,out of which 410 were HAI cases,and the incidence of HAI was 23.01%.Multivariate logistic regre-ssion analysis results of HAI in ICU inpatients showed that regional gross domestic product(GDP)≥58 685 Yuan,performing pathogen culture during this hospitalization,history of diabetes mellitus,history of cancer,length of hospital stay ≥7 days before infection,and duration of persistent fever>5 days before infection were independent risk factors for HAI in ICU patients(all P<0.05).The discrimination of the model(area under the receiver operating characteristic curve[AUC]of 0.841),calibration(Brier score of 0.129),and clinical effectiveness(net benefit of 11.4%when the risk threshold was 5%-74%)all performed well.Conclusion The QR code-based APP prediction tool is of great significance for scientific research transformation and precise HAI control.
3.Development and application of quick response code for prediction of healthcare-associated infection risks in ICU inpatients
Man ZHANG ; Yongsheng LIANG ; Huai YANG ; Jiangnan SUN ; Xi WANG ; Zidi XU ; Jie SONG ; Yanli ZHANG ; Di ZHAO ; Rui WANG ; Chengsong ZHAO ; Xin NI
Chinese Journal of Infection Control 2025;24(9):1259-1268
Objective To identify high-risk factors for healthcare-associated infection(HAI)in patients in inten-sive care units(ICUs),and develop a quick response(QR)code-based APP prediction tool.Methods Information of inpatients in general ICUs of three hospitals in Guizhou Province from January to December 2024 were collected.Risk factors were analyzed with a logistic regression model.QR code-based APP was constructed and validated.Results A total of 1 782 patients in general ICUs of three hospitals in Guizhou Province in 2024 were included in the analysis,out of which 410 were HAI cases,and the incidence of HAI was 23.01%.Multivariate logistic regre-ssion analysis results of HAI in ICU inpatients showed that regional gross domestic product(GDP)≥58 685 Yuan,performing pathogen culture during this hospitalization,history of diabetes mellitus,history of cancer,length of hospital stay ≥7 days before infection,and duration of persistent fever>5 days before infection were independent risk factors for HAI in ICU patients(all P<0.05).The discrimination of the model(area under the receiver operating characteristic curve[AUC]of 0.841),calibration(Brier score of 0.129),and clinical effectiveness(net benefit of 11.4%when the risk threshold was 5%-74%)all performed well.Conclusion The QR code-based APP prediction tool is of great significance for scientific research transformation and precise HAI control.
4.Application of contrast agent dual-phase double-flow method in CMR"one-stop"examination process of patients with old myocardial infarction
Shuang LI ; Zheng SUN ; Li ZHAO ; Zhi LIU ; Zidi WANG ; Guangyan HUO ; Jie LU
China Medical Equipment 2025;22(6):45-49
Objective:To explore the influence of injection methods of different contrast agents on CMR image quality,and further optimize"one-stop"examination process under the premise of the analysis for high-pressure bolus pressure curve of contrast-enhanced(CE)cardiac magnetic resonance(CMR).Methods:The data of CMR examination of 70 patients with old myocardial infarction who admitted to the department of emergency of Xuanwu Hospital,Capital Medical University from December 2023 to December 2024 were selected as research objects.They were divided into an observation group and a control group by a simple randomization method,with 35 cases in each group.The observation group adopted gadolinium contrast agent injection with double-phase double-flow,with two bolus injections at 4 ml/s and 2 ml/s sequentially.The control group adopted the injection with single-phase double-flow,with only one bolus injection at 4 ml/s.The dynamic pressure time curve was drawn,and the total bolus dose and pressure peak of two kinds of injection methods were compared.The residual liquid samples of the observation group and the control group were collected after injection of contrast agent was conducted.After the residual liquids of 10 ml,20 ml and 30 ml were derived respectively,the T1 mapping sequence was used to collect signal intensity values,and to compared the difference of that between two groups.The signal-to-noise ratio(SNR)of left ventricular blood pool,infarcted myocardium and distal myocardium,and the contrast-to-noise ratios(CNR)between infarcted myocardium and blood pool,and between distal myocardium and blood pool were compared between the observation group and the control group.Results:There was no statistical difference in the total dose of bolus injection between the observation group and the control group(P>0.05).The peak value of the pressure of bolus injection in the observation group and control group were respectively(87.4±11.3)pound force per square inch(PSI)and(104.0±20.1)PSI,and the difference was statistically significant(t=5.81,P<0.05).T1 signal intensity values of 10 ml residual liquid and 20 mL residual liquid were respectively 1984.43±70.26 and 2190.56±195.96 in observation group,and they were respectively 1203.36±184.99 and 2884.64±349.39 in control group,and the differences were significant(t=-3.57,6.03,P<0.05).The T1 signal intensity value of 30mL residual fluid sample was 4371.75±75.16 in observation group,and that was 4261.86±110.68 in control group,and the difference was no significant(P>0.05).The SNR value of blood pool was(4.88±1.01)in observation group,which was lower than(8.25±1.36)in control group,and the difference of that between two groups was significant(t=6.11,P<0.05).The CNR values of infarcted myocardium and blood pool,of remote myocardium and blood pool between two groups were statistically significant(t=-4.79,-5.39,P<0.05).Conclusion:The contrast agent of high-pressure bolus injection with dual-phase dual-flow method can not only explore the time window of the extravasation of contrast agent,but also improve the SNR and the CNR of CMR images,and further optimize the CMR examination process.
5.Application of contrast agent dual-phase double-flow method in CMR"one-stop"examination process of patients with old myocardial infarction
Shuang LI ; Zheng SUN ; Li ZHAO ; Zhi LIU ; Zidi WANG ; Guangyan HUO ; Jie LU
China Medical Equipment 2025;22(6):45-49
Objective:To explore the influence of injection methods of different contrast agents on CMR image quality,and further optimize"one-stop"examination process under the premise of the analysis for high-pressure bolus pressure curve of contrast-enhanced(CE)cardiac magnetic resonance(CMR).Methods:The data of CMR examination of 70 patients with old myocardial infarction who admitted to the department of emergency of Xuanwu Hospital,Capital Medical University from December 2023 to December 2024 were selected as research objects.They were divided into an observation group and a control group by a simple randomization method,with 35 cases in each group.The observation group adopted gadolinium contrast agent injection with double-phase double-flow,with two bolus injections at 4 ml/s and 2 ml/s sequentially.The control group adopted the injection with single-phase double-flow,with only one bolus injection at 4 ml/s.The dynamic pressure time curve was drawn,and the total bolus dose and pressure peak of two kinds of injection methods were compared.The residual liquid samples of the observation group and the control group were collected after injection of contrast agent was conducted.After the residual liquids of 10 ml,20 ml and 30 ml were derived respectively,the T1 mapping sequence was used to collect signal intensity values,and to compared the difference of that between two groups.The signal-to-noise ratio(SNR)of left ventricular blood pool,infarcted myocardium and distal myocardium,and the contrast-to-noise ratios(CNR)between infarcted myocardium and blood pool,and between distal myocardium and blood pool were compared between the observation group and the control group.Results:There was no statistical difference in the total dose of bolus injection between the observation group and the control group(P>0.05).The peak value of the pressure of bolus injection in the observation group and control group were respectively(87.4±11.3)pound force per square inch(PSI)and(104.0±20.1)PSI,and the difference was statistically significant(t=5.81,P<0.05).T1 signal intensity values of 10 ml residual liquid and 20 mL residual liquid were respectively 1984.43±70.26 and 2190.56±195.96 in observation group,and they were respectively 1203.36±184.99 and 2884.64±349.39 in control group,and the differences were significant(t=-3.57,6.03,P<0.05).The T1 signal intensity value of 30mL residual fluid sample was 4371.75±75.16 in observation group,and that was 4261.86±110.68 in control group,and the difference was no significant(P>0.05).The SNR value of blood pool was(4.88±1.01)in observation group,which was lower than(8.25±1.36)in control group,and the difference of that between two groups was significant(t=6.11,P<0.05).The CNR values of infarcted myocardium and blood pool,of remote myocardium and blood pool between two groups were statistically significant(t=-4.79,-5.39,P<0.05).Conclusion:The contrast agent of high-pressure bolus injection with dual-phase dual-flow method can not only explore the time window of the extravasation of contrast agent,but also improve the SNR and the CNR of CMR images,and further optimize the CMR examination process.
6.A novel bionic stent for external septal retention in East Asian rhinoplasty
Xiancheng WANG ; Shuyuan WANG ; Xingyu XIANG ; Dandan SONG ; Zidi YU ; Yang SUN ; Xiang XIONG ; Xianxi MENG ; Wenbo LI ; Zhongjie YI ; Zhihua QIAO
Chinese Journal of Plastic Surgery 2024;40(7):779-786
Objective:To investigate the application effects of a novel framework: the external septal retention bionic framework in East Asian rhinoplasty.Methods:A retrospective analysis was performed based on the clinical data of the patients who received treatments in Department of Plastic and Aesthetic ( Burn) Surgery, the Second Xiangya Hospital, Central South University from January 2022 to July 2023 using an external septal retention bionic framework with autologous costal cartilage rhinoplasty. The patients were all treated with a V-shaped incision at the nasal columella, which continued to both sides of the nose to form a bird-shaped incision. During the operation, the sixth or seventh costal cartilage was sculpted to form the nasal columella support grafts (sturt), external nasal septal graft, cap grafts, and shield grafts, in which the nasal column support graft and external nasal septal graft were implanted in a mortise-and-tenon joint structure to form a septum bionic retained external stent in order to lengthen the nasal columellar column and strengthen the septum. A capsular graft was used to shape the tip of the nose and the rectus abdominis fascia was covered to soften the tip of the nose, and the shield grafts were used to fill out the subnasal lobules. A bulb was sculpted, shaped and implanted in the dorsal space to elevate the nasal dorsum. To observe the postoperative results and complications, a postoperative satisfaction survey was completed using the rhinoplasty outcome evaluation (ROE) and the visual analogue scale (VAS) with regular follow-up. Comparison of preoperative and postoperative scale scores was performed using paired samples t-test. Nasal stent stability was assessed by measuring the patients’ preoperative and postoperative nasolabial angle and nasal tip protrusion. The comparison of preoperative and postoperative nasolabial angle was performed using the paired-sample t-test, and the comparison of nasal tip protrusion was performed using the Wilcoxon signed rank-sum test, P<0.05 considered a statistically significant difference. Results:A total of 33 patients were enrolled, including 4 males and 29 females, with average age of 23.8 years(15-42 years). The follow-up period is (14.52 ± 4.72) months (3 to 21 months). Thirty-three patients recovered well after surgery, and no short-term complications such as infection or bleeding occurred. The patients' nasal aesthetic problems such as saddle nose, deviated nasal columella, bilateral asymmetry of the nose, bilateral nasal base depression, and rounded shield of the nasal tip were improved after surgery. Satisfaction survey results: ROE and VAS scores were significantly higher than those before surgery, which were [(17.92±2.56) vs.(12.78±3.14)] and [(8.08±1.66)vs(5.15±1.99)], ( P<0.05), 87.9% (27/33)of the patients were satisfied with the aesthetic and functional outcomes of the nose. Comparisons of nasolabial angle [(87.28±2.58)° vs. (97.64±1.95)°] and tip protrusion [1.88 (1.78, 1.95) cm vs. 2.16(2.01, 2.32) cm] measurements between preoperative and postoperative period of the 33 patients, the differences were statistically significant ( P<0.05). Conclusion:Rhinoplasty for East Asians employs an external septal retention bionic framework to retain the nasal septum. This technique can avoid septal cartilage resorption caused by compression of grafts transplanted in the future, and cause less damage to the anatomy and physiology of the nose. The framework is relatively easy to construct, with a stable and strong stent, and good patient satisfaction. It can achieve a more desirable aesthetic effect of the nose.
7.A novel bionic stent for external septal retention in East Asian rhinoplasty
Xiancheng WANG ; Shuyuan WANG ; Xingyu XIANG ; Dandan SONG ; Zidi YU ; Yang SUN ; Xiang XIONG ; Xianxi MENG ; Wenbo LI ; Zhongjie YI ; Zhihua QIAO
Chinese Journal of Plastic Surgery 2024;40(7):779-786
Objective:To investigate the application effects of a novel framework: the external septal retention bionic framework in East Asian rhinoplasty.Methods:A retrospective analysis was performed based on the clinical data of the patients who received treatments in Department of Plastic and Aesthetic ( Burn) Surgery, the Second Xiangya Hospital, Central South University from January 2022 to July 2023 using an external septal retention bionic framework with autologous costal cartilage rhinoplasty. The patients were all treated with a V-shaped incision at the nasal columella, which continued to both sides of the nose to form a bird-shaped incision. During the operation, the sixth or seventh costal cartilage was sculpted to form the nasal columella support grafts (sturt), external nasal septal graft, cap grafts, and shield grafts, in which the nasal column support graft and external nasal septal graft were implanted in a mortise-and-tenon joint structure to form a septum bionic retained external stent in order to lengthen the nasal columellar column and strengthen the septum. A capsular graft was used to shape the tip of the nose and the rectus abdominis fascia was covered to soften the tip of the nose, and the shield grafts were used to fill out the subnasal lobules. A bulb was sculpted, shaped and implanted in the dorsal space to elevate the nasal dorsum. To observe the postoperative results and complications, a postoperative satisfaction survey was completed using the rhinoplasty outcome evaluation (ROE) and the visual analogue scale (VAS) with regular follow-up. Comparison of preoperative and postoperative scale scores was performed using paired samples t-test. Nasal stent stability was assessed by measuring the patients’ preoperative and postoperative nasolabial angle and nasal tip protrusion. The comparison of preoperative and postoperative nasolabial angle was performed using the paired-sample t-test, and the comparison of nasal tip protrusion was performed using the Wilcoxon signed rank-sum test, P<0.05 considered a statistically significant difference. Results:A total of 33 patients were enrolled, including 4 males and 29 females, with average age of 23.8 years(15-42 years). The follow-up period is (14.52 ± 4.72) months (3 to 21 months). Thirty-three patients recovered well after surgery, and no short-term complications such as infection or bleeding occurred. The patients' nasal aesthetic problems such as saddle nose, deviated nasal columella, bilateral asymmetry of the nose, bilateral nasal base depression, and rounded shield of the nasal tip were improved after surgery. Satisfaction survey results: ROE and VAS scores were significantly higher than those before surgery, which were [(17.92±2.56) vs.(12.78±3.14)] and [(8.08±1.66)vs(5.15±1.99)], ( P<0.05), 87.9% (27/33)of the patients were satisfied with the aesthetic and functional outcomes of the nose. Comparisons of nasolabial angle [(87.28±2.58)° vs. (97.64±1.95)°] and tip protrusion [1.88 (1.78, 1.95) cm vs. 2.16(2.01, 2.32) cm] measurements between preoperative and postoperative period of the 33 patients, the differences were statistically significant ( P<0.05). Conclusion:Rhinoplasty for East Asians employs an external septal retention bionic framework to retain the nasal septum. This technique can avoid septal cartilage resorption caused by compression of grafts transplanted in the future, and cause less damage to the anatomy and physiology of the nose. The framework is relatively easy to construct, with a stable and strong stent, and good patient satisfaction. It can achieve a more desirable aesthetic effect of the nose.
8.Analysis on clinical and genetic characteristics of children with ATP-sensitive potassium channel congenital hyperinsulinism
Peipei HUI ; Zidi XU ; Lin ZHANG ; Qiao ZENG ; Min LIU ; Jie YAN ; Yuyun WU ; Yanmei SANG ; Cheng ZHU ; Guichen NI ; Rongmin LI ; Jieying WANG
Chinese Journal of Pancreatology 2022;22(1):48-54
Objective:To analyze clinical characteristics and genetic characteristics of children with ATP sensitive potassium passage (K ATP-HI). Methods:Forty-five children with genetically confirmed K ATP-HI and their families admitted to Beijing Children′s Hospital of Capital Medical University between February 2002 and December 2018 were selected as the study subjects. A detailed retrospective analysis of the patient's clinical characteristics, diagnosis and treatment process, disease-causing gene carrying status and later follow-up data was performed. ABCC8/KCNJ11 gene was sequenced by second-generation sequencing technology. Results:Among 45 children with K ATP-HI, 34 cases (75.6%) were neonatal onset, the first symptoms of 21 cases (46.7%) were convulsions. 39 cases had been treated with diazoxide, including 12 cases (30.8%) with good efficacy, 16 cases (41%) with poor efficacy and 11 cases with uncertain efficacy. Octreotide was further applied in 18 patients with uncertain or ineffective efficacy after diazoxide treatment, and 13 cases (72.2%) were effective, 3 cases were ineffective, and 2 cases were uncertain. 10 CHI patients who were ineffective to drug treatment or had clearly focal lesions confirmed by 18F-dopa positron emission by computed tomography ( 18F-DOPA PET) scans had undergone surgical treatment, 8 of which underwent partial pancreatectomy and blood glucose returned to normal after the operation; the other 2 cases underwent subtotal pancreatectomy and both had secondary diabetes after operation. Among 45 children with K ATP-HI, 1 case carried both ABCC8 and KCNJ11 mutations, 10 cases carried ABCC8 compound heterozygous mutations, and the remaining 34 cases carried ABCC8/KCNJ11 single genetic mutation. Among them, 21 cases had paternal inheritance, and 3 cases had maternal inheritance, 6 cases were identified with de novo mutations. Conclusions:Diazoxide treatment was ineffective for most K ATP-HI children, but octreotide had a higher effective rate. Partial pancreatectomy for focal type patients had a higher cure rate, and there was a risk of secondary diabetes after subproximal pancreatectomy, so it was very important to clarify the histological type of children before surgery. ABCC8 gene mutations and KCNJ11 gene mutations were the main pathogenic genes of K ATP-HI. Among patients carrying mutations in single ABCC8 or KCNJ11 gene mutation, K ATP-HI inherited by paternity were the majority. Some K ATP-HI children can relieve the hypoglycemia symptoms by themselves.
9.Therapeutic efficacy analysis of diazoxide in treating 145 cases of congenital hyperinsulinism
Zidi XU ; Min LIU ; Yanping WANG ; Xuejun LIANG ; Peipei HUI ; Qianmian XU ; Jie YAN ; Yujun WU ; Yanmei SANG
Chinese Journal of Pancreatology 2018;18(5):337-340
Objeetive To analyze the efficacy and safety of diazoxide treatment in patients with congenital hyperinsulinism (CHI).Methods The clinical data of 145 patients diagnosed with CHI hospitalized in Beijing Children's Hospital affiliated to Capital Medical University from February 2002 to January 2016 who received diazoxide treatment were retrospectively analyzed.We conducted a detailed analysis on the efficacy,side effects and prognosis of diazoxide treatment for CHI.Results In 145 patients,there were 89 patients (61.4%) who were responsive to diazoxide and 23 patients (15.9%) unresponsive to diazoxide,and the treatment effect of diazoxide for the other 33 cases (22.8%) was still unclear.In the diazoxide effective group,there were 22 cases (24.7%) of neonatal onset,32 cases (36.0%)of onset from 1-6 months after birth and 35 cases (39.3%) of onset after 6 months of birth,and the birth weight was normal in 67 cases,macrosomia in 16 cases,low in 5 cases and unknown in 1 case.In the diazoxide ineffective group,there were 14 cases (60.8%) of neonatal onset,7 cases (30.4%) of onset from 1-6 months after birth and 2 cases (8.6%)of onset after 6 months of birth,and the birth weight was normal in 9 cases and macrosomia in 14 cases.In the unclear diazoxide effect group,there were 20 cases (60.6%) of neonatal onset,9 cases (27.34%) of onset from 1-6 months after birth and 4 cases (12.1%) of onset after 6 months of birth,and the birth weight was normal in 15 cases and macrosomia in 18 cases.After the application of diazoxide,65 cases (44.8%) had hirsutism,and 43 patients (29.7%) had gastrointestinal side effects.In the diazoxide effective group,the symptom of hypoglycemia was spontaneously alleviated at the age of from 3 months to 7 years old in 20 patients (22.5%),and 33 patients continued to be treated by diazoxide.In the diazoxide ineffective group,the symptom of hypoglycemia was spontaneously alleviated around the age of 1 years old in 4 patients (17.3%),5 patients were treated by octreotide in long term to maintain normal blood sugar level,4 patients received pancreectomy including 3 with normal blood sugar and 1 with occasional hypoglycemia after surgery.In the unclear diazoxide effect group,the symptom of hypoglycemia was spontaneously alleviated at the age of from 10 months to 3 years old in 4 patients (12.1%),2 patients were treated by octreotide in long term to maintain normal blood sugar level,8 patients received pancreatectomy including 5 with controlled blood sugar after surgery.Conclusions Diazoxide is effective in treating CHI children.The efficiency may be higher for the CHI with normal birth weight or whose onset age is after the neonatal period.
10.Clinical characteristics and gene mutations analysis of 56 patients with congenital hyperinsulinism
Qianmian XU ; Zidi XU ; Min LIU ; Xuejun LIANG ; Huanmin WANG ; Jie YAN ; Yujun WU ; Yanmei SANG ; Cheng ZHU ; Guichen NI
Chinese Journal of Applied Clinical Pediatrics 2017;32(8):574-578
Objective To analyze the clinical characteristics and gene mutations of 56 patients with congenital hyperinsulinism(CHI)and to provide a theoretical basis for clinical diagnosis and treatment of CHI.Methods Fifty-six children who were diagnosed as CHI between February 2002 and January 2016 in Beijing Children's Hospital Affiliated to Capital Medical University were selected as research subjects.A retrospective study was done about the clinical data and the treatment procedures of the 56 patients,such as perinatal conditions,clinical manifestations,laboratory data,treatments,prognosis and so on.Polymerase chain reaction(PCR)-DNA technology or next-generation sequencing technology was used to analyze the CHI relevant genes of the 56 patients.Results Thirty of the 56 patients carried CHI gene mutation.(1)Twenty-three of 56 patients(41.0%)carried ABCC8/KCNJ11 gene mutations:4 of 23 patients carried complex heterozygous mutation,1 of 23 patients carried both ABCC8 and KCNJ11 gene mutation,1 of 23 patients carried maternally inherited ABCC8 gene mutation,12 of 23 patients carried paternally inherited ABCC8 gene mutation,1 of 23 patients carried paternally inherited KCNJ11 gene mutation,3 of 23 patients carried de novo ABCC8 gene mutation,1 of 23 patients had unknown genetic way,19 of 23 patients were treated with Diazoxide,2 of 19 patients were responsive to Diazoxide,7 of 19 patients were unresponsive to Diazoxide and 10 of 19 patients were uncertain to Diazoxide.(2)Five of 56 patients(8.9%)carried GLUD1 gene mutation,4 of 5 patients were treated with Diazoxide and they were all responsive to Diazoxide.(3)One of 56 patients(1.7%)carried de novo GCK gene mutation,responsive to Diazoxide treatment.(4)One of 56 patients(1.7%)carried maternally inherited SLC16A1 gene mutation,responsive to Diazo-xide treatment.Conclusions The ABCC8 gene and GLUD1 gene mutation are the main causative genes of CHI.The GCK gene and SLC16A1 gene mutation are in the minority.Most ABCC8 gene and KCNJ11 gene mutation are unresponsive to Diazoxide treatment.


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