Objective:To investigate the expression characteristics of Zeste enhancer of Zeste homolog 2 (EZH2) in breast cancer tissue and its influence on tumor progression and prognosis.Methods:Transcriptome data of breast cancer tissue and normal breast tissue adjacent to cancer as well as clinical data of patients were obtained from the cancer genome atlas (TCGA) database, gene expression comprehensive database and European genome phenotype archives database, and the difference of EZH2 expression was analyzed using TIMER 2.0 platform. The survival information of breast cancer patients was obtained from the Kaplan Meier Plotter database, and the overall survival time, relapse free survival time and distant metastasis free survival time of breast cancer patients with low EZH2 expression and high EZH2 expression were compared. Select 14 nude mice were selected and randomly divided into si-EZH2 group and control group, with 7 mice in each group.MCF7 culture suspensions transfected with EZH2 knockdown plasmid and control plasmid were inoculated for corresponding group. The body mass and tumor volume of two groups of nude mice inoculated with MCF7 cells were compared at different times. On the 28th day, the nude mice were euthanized and the tumors were dissected to compare the tumor mass of the two groups of nude mice. The normally distributed quantitative data was represented by xˉ ± s. Two independent sample t-tests were used for comparison between two groups, repeated measures ANOVA was used for comparison of body mass and tumor volume between two groups of nude mice at different times, and Bonferroni test was used for pairwise comparison. The comparison of survival rates was conducted using log rank test. Results:A total of 1085 breast cancer tissues and 291 normal adjacent breast tissues were included in the TCGA database. EZH2 expression in breast cancer tissues was higher than that in normal adjacent breast tissues ( P<0.05). In the Kaplan Meier Plotter database, the total survival time, relapse free survival time, and distant metastasis free survival time of breast cancer patients in the EZH2 overexpression group were shorter than those in the EZH2 low expression group ( P=0.013, <0.001, <0.001). After 7 days of inoculation with MCF7 culture suspension, significant subcutaneous tumors were observed on the left back of both groups of nude mice. On the first day, there were no statistically significant difference in body mass between the two groups of nude mice ( P>0.05); On day 7, 13, 19, 25, and 28, the body mass and tumor volume of both groups of nude mice gradually increased (nude mouse body mass: within group F=29.31, P<0.001, between groups F=234.32, P<0.001, Finteraction=16.83, P<0.001; Tumor volume: within group F=34.00, P<0.001, between groups F=193.17, P<0.001, Finteraction=35.61, P<0.001). And the body mass of the siEZH2 group nude mice was higher than that of control group (all P<0.05). On days 19, 25, and 28, tumor the volume of the siEZH2 group nude mice was smaller than that of control group (all P<0.05). On the 28th day, the mass of tumors dissected in the siEZH2 group of nude mice was lower than that in the control group [(0.30±0.07) g vs. (0.61±0.14) g, t=5.16, P<0.001]。 Conclusions:EZH2 is highly expressed in breast cancer tissues and is significantly associated with poor prognosis. Knockdown of EZH2 can significantly inhibit the proliferation and tumor formation of breast cancer cells.

Objective:To develop a nomogram model that combined radiomics and the Breast Imaging Reporting and Data System(BI-RADS),which was used to predict breast cancer in category 4 or 5 lesions of BI-RADS ultrasound(US).Methods:A total of 315 female patients with breast tumors who admitted to The First People's Hospital of Chuzhou and Xinjiang Uygur Autonomous Region Hospital of Traditional Chinese Medicine from November 2021 to September 2024 were selected.In them,211 patients from January 2022 to August 2023 were included in the training group from Xinjiang Uygur Autonomous Region Hospital of Traditional Chinese Medicine,and 104 patients from November 2021 to September 2024 were included in the validation group from The First People's Hospital of Chuzhou.The nomogram model was developed according to the results of multiple regression analysis of the training group.Then,the discrimination,calibration and clinical practicality of nomogram were assessed in predicting breast cancer in the validation group.Results:Radiomics score and BI-RADS category were independent influencing factors in predicting malignant tumors of breast(OR=4.66,4.87,P<0.05).In the ROC curve analysis,the area under curve(AUC)values of the ROC curves of the nomogram models of training group and the validation group were respectively 0.928 and 0.883 in the ability of distinguishing malignant and benign lesions,which all were better than AUC value(0.791,0.864)of the radiomics score,and that(0.825,0.857)of the BI-RADS category,and the differences were statistically significant(Ztraining group=4.026,3.716,and Zverification group=3142,2.847,P<0.05).Conclusion:The nomogram model based on radiomic score and BI-RADS category has potential application value in the prediction for malignant tumor of breast that is BI-RADS US category 4 or 5.

Objective:To investigate the therapeutic efficacy of proximal ulnar osteotomy combined with autologous iliac bone grafting for the repair of chronic elbow varus with posteromedial rotational instability caused by coronoid process bone defects.Methods:A retrospective analysis was conducted on the data of 9 male patients with chronic elbow varus and posteromedial rotational instability caused by coronoid process bone defects who were treated with proximal ulnar osteotomy combined with autologous iliac bone grafting at Sichuan Provincial Orthopaedic Hospital from January 2017 to May 2024. The patients' ages ranged from 20 to 46 years, with an average of 29.78±8.77 years old. There were 3 cases on the right side and 6 on the left side. The height of the bone defect on the anteromedial surface of the coronoid process ranged from 5.24 to 12.23 mm, with an average of 9.01±2.61 mm. The time from injury to surgery ranged from 5 to 9 months, with an average of 6.78±1.39 months. During the operation, proximal ulnar osteotomy combined with autologous iliac bone grafting was used to repair the coronoid process bone defect. Simultaneously, the lateral ulnar collateral ligament was reconstructed using the suture anchors (3 patients) or repaired with autologous palmaris longus tendon (6 patients). Finally, a hinged external fixator was applied in all cases. The range of motion (ROM) of the elbow joint was recorded before and after the surgery. The visual analogue score (VAS) was used to evaluate the degree of pain, and the Mayo elbow performance score (MEPS) was employed to assess the elbow joint function.Results:All surgical incisions healed primarily, and no case of infection occurred. All 9 patients were followed up, with a follow-up period ranging from 11 to 25 months, and an average of 17.78 ± 5.16 months. The bone grafts all healed, with a healing time ranging from 3 to 5 months, and an average of 3.56±0.73 months. The elbow extension angles before surgery, at 6 months postoperatively, and at the last follow-up were 24.44°±14.24°, 11.11°±9.28°, and 2.22°±4.41°, respectively. The flexion angles were 118.89°±5.46°, 123.33°±5.00°, and 128.89°±3.33°, respectively. The flexion-extension ROMs were 94.44°±18.28°, 112.22°±13.02°, and 126.67°±7.07°, respectively. The pronation angles were 61.67°±6.12°, 61.67°±3.54°, and 67.22°±5.07°, respectively. The differences in these angles were all statistically significant ( P<0.05). The supination angles before surgery, at 6 months postoperatively, and at the last follow-up were 77.22°±7.55°, 78.89°±6.01°, and 79.44°±6.35°, respectively. The rotational ROMs were 138.89°±11.93°, 140.56°±7.26°, and 146.67°±10.31°, respectively. No statistically significant differences were observed ( P>0.05). The VAS scores before surgery, at 6 months postoperatively, and at the last follow-up were 6.89±0.78 points, 2.33±1.00 points, and 0(0, 0.5) points, respectively, and the difference was statistically significant ( H=23.216, P<0.001). The MEPS scores were 42.22±5.65 points, 76.67±7.05 points, and 95.00±7.50 points, respectively, and the difference was also statistically significant ( F=134.212, P<0.001). The cantilever test confirmed that none of the patients had elbow joint instability symptoms, and the patients were satisfied with the treatment effect. Conclusions:Proximal ulnar osteotomy combined with autologous iliac bone grafting, simultaneous repair or reconstruction of the lateral ligament complex, and fixation with a hinged external fixator is an effective treatment approach for chronic elbow varus with posteromedial rotational instability. This method can alleviate elbow pain, improve the ROM, and enhance elbow function in patients, yielding satisfactory short-term outcomes.

Objective:To investigate the influence of genetic and environmental factors on the clinical characteristics of upper urinary tract calculi in pediatric patients.Methods:This study was a retrospective case series. The clinical data of 179 children under the age of 14 with upper urinary tract calculi treated at Beijing Friendship Hospital，Capital Medical University，from August 2014 to February 2023 were analyzed. There were 121 males（67.60%）and 58 females（32.40%），with a median age at onset of 2.10（1.14，5.17）years. Thirty-three cases（18.44%）had a family history of urinary stone disease. Stone characteristics was defined by CT，with a median stone burden（sum of the diameters of all stones）of 1.3（1.00，1.60）cm. Fifty-four（30.17%）children had staghorn calculi. Multiple stones were present in 92 cases（51.40%），and bilateral stones in 52 cases（29.05%），with hydronephrosis was present in 119 children（66.48%）. The median follow-up time was 67 months，and 36 children（20.11%）experienced stone recurrence. Dietary habits and related information were collected by electronic questionnaire，including a total of 115 children（64.25%）with an unbalanced diet，101（56.42%）with insufficient water intake，and 32 children（17.88%）with a preference for a high-protein diet. Tap water was used as the source of drinking water by 128 patients（71.51%），and 107（59.78%）took dietary supplements. Whole-exome sequencing revealed that 55 children（30.73%）carried pathogenic mutations in stone-related genes. Binary logistic regression was used for univariate analysis of above risk factors. Variables with P < 0.1 in univariate analysis and without multicollinearity were included in multivariate logistic regression to further screen for independent risk factors. Results:Multivariate analysis confirmed that carrying stone-related pathogenic gene mutations（ OR = 3.06，95% CI 1.25?7.45， P = 0.014）and insufficient water intake（ OR = 3.28，95% CI 1.14?9.47， P = 0.028）were independent risk factors for higher stone burden. A high-protein diet（ OR = 2.40，95% CI 1.03?5.63， P = 0.044），carrying stone-related pathogenic gene mutations（ OR = 4.57，95% CI 2.21?9.46， P<0.01），and a family history of stones（ OR = 3.18，95% CI 1.28 ~ 7.91， P = 0.013）were independent risk factors for staghorn calculi. Multiple stones were closely associated with a family history of stones（ OR = 2.66，95% CI 1.15-6.17， P = 0.022）and carrying stone-related pathogenic gene mutations（ OR = 3.22，95% CI 1.60-6.48， P = 0.001）. Moreover，carrying stone-related pathogenic gene mutations（ OR = 5.19，95% CI 2.52?13.82， P < 0.01）were an independent risk factor for stone recurrence，whereas dietary supplement intake was a protective factor（ OR = 0.26，95% CI 0.11?0.62， P = 0.002）. Conclusions:Genetic and environmental factors play significant roles in the occurrence and development of pediatric upper urinary tract stones. A high-protein diet as well as a positive family history of stones are independent risk factors for staghorn calculi，and insufficient water intake is a critical environmental factor for stone formation，while appropriate use of dietary supplements may help reduce the risk of stone recurrence. Genetic testing indicates that approximately 30% of children carry stone-related pathogenic gene mutations，and these patients prone to severe stone and an increased risk of recurrence.

This study examines the effects of zearalenone(ZEA)on the survival and function of lu-teinized granulosa cells,and studies the role of activating transcription factor 6(ATF6)in regula-ting apoptosis and functional abnormalities of luteinized granulosa cells induced by ZEA.An in vitro model of luteinized granulosa cells was utilized to examine the effects of ZEA treatment on apoptosis,hormone secretion,and the expression of relevant proteins.Furthermore,the expression of ATF6 was manipulated using siRNA to elucidate its regulatory function in the ZEA-induced damage of luteinized granulosa cells in mice.Our findings revealed that ZEA inhibited the activity of luteinized granulosa cells and reduced the secretion of estradiol(E2)and progesterone(P4)in a dose-dependent manner.The expression levels of p-IRE1,ATF6 and StAR in both low(20 pmol/L)and high(40 μmol/L)ZEA groups were significantly increased after 24 h(P＜0.05).GRP78 had no significant change at low concentration treatment(P＞0.05),but significantly increased at high concentration treatment(P＜0.05).Similarly,ATF4 and p-EIF2α had no significant change at low concentration treatment(P＞0.05),but significantly decreased at high concentration treat-ment(P＜0.05).HSD3B2 and CYP19A1 were significantly decreased in both low and high concentration treatments(P＜0.05).After 48 h of treatment,ATF6 and GRP78 were significantly increased in both low and high concentration treatments(P＜0.05).p-IRE1 was significantly de-creased at low concentration treatment(P＜0.05),but remained unchanged at high concentration treatment(P＞0.05).ATF4,p-EIF2α,HSD3B2 and CYP19A1 were significantly decreased in both low and high concentration treatments(P＜0.05).St AR was significantly increased in both low and high concentration treatments(P＜0.05).Interference with the expression of ATF6 could sig-nificantly reduce the apoptosis induced by low concentration group(P＜0.05),and enhanced the hormone secretion in both high and low concentration groups(P＜0.05).In conclusion,ZEA can cause damage to luteinized granulosa cells and activate ATF6 signaling pathway.Interference with ATF6 can alleviate apoptosis and hormone secretion disturbance induced by low concentration ZEA,but has limited effect on damage caused by high concentration ZEA.

Objective:To investigate the therapeutic efficacy of proximal ulnar osteotomy combined with autologous iliac bone grafting for the repair of chronic elbow varus with posteromedial rotational instability caused by coronoid process bone defects.Methods:A retrospective analysis was conducted on the data of 9 male patients with chronic elbow varus and posteromedial rotational instability caused by coronoid process bone defects who were treated with proximal ulnar osteotomy combined with autologous iliac bone grafting at Sichuan Provincial Orthopaedic Hospital from January 2017 to May 2024. The patients' ages ranged from 20 to 46 years, with an average of 29.78±8.77 years old. There were 3 cases on the right side and 6 on the left side. The height of the bone defect on the anteromedial surface of the coronoid process ranged from 5.24 to 12.23 mm, with an average of 9.01±2.61 mm. The time from injury to surgery ranged from 5 to 9 months, with an average of 6.78±1.39 months. During the operation, proximal ulnar osteotomy combined with autologous iliac bone grafting was used to repair the coronoid process bone defect. Simultaneously, the lateral ulnar collateral ligament was reconstructed using the suture anchors (3 patients) or repaired with autologous palmaris longus tendon (6 patients). Finally, a hinged external fixator was applied in all cases. The range of motion (ROM) of the elbow joint was recorded before and after the surgery. The visual analogue score (VAS) was used to evaluate the degree of pain, and the Mayo elbow performance score (MEPS) was employed to assess the elbow joint function.Results:All surgical incisions healed primarily, and no case of infection occurred. All 9 patients were followed up, with a follow-up period ranging from 11 to 25 months, and an average of 17.78 ± 5.16 months. The bone grafts all healed, with a healing time ranging from 3 to 5 months, and an average of 3.56±0.73 months. The elbow extension angles before surgery, at 6 months postoperatively, and at the last follow-up were 24.44°±14.24°, 11.11°±9.28°, and 2.22°±4.41°, respectively. The flexion angles were 118.89°±5.46°, 123.33°±5.00°, and 128.89°±3.33°, respectively. The flexion-extension ROMs were 94.44°±18.28°, 112.22°±13.02°, and 126.67°±7.07°, respectively. The pronation angles were 61.67°±6.12°, 61.67°±3.54°, and 67.22°±5.07°, respectively. The differences in these angles were all statistically significant ( P<0.05). The supination angles before surgery, at 6 months postoperatively, and at the last follow-up were 77.22°±7.55°, 78.89°±6.01°, and 79.44°±6.35°, respectively. The rotational ROMs were 138.89°±11.93°, 140.56°±7.26°, and 146.67°±10.31°, respectively. No statistically significant differences were observed ( P>0.05). The VAS scores before surgery, at 6 months postoperatively, and at the last follow-up were 6.89±0.78 points, 2.33±1.00 points, and 0(0, 0.5) points, respectively, and the difference was statistically significant ( H=23.216, P<0.001). The MEPS scores were 42.22±5.65 points, 76.67±7.05 points, and 95.00±7.50 points, respectively, and the difference was also statistically significant ( F=134.212, P<0.001). The cantilever test confirmed that none of the patients had elbow joint instability symptoms, and the patients were satisfied with the treatment effect. Conclusions:Proximal ulnar osteotomy combined with autologous iliac bone grafting, simultaneous repair or reconstruction of the lateral ligament complex, and fixation with a hinged external fixator is an effective treatment approach for chronic elbow varus with posteromedial rotational instability. This method can alleviate elbow pain, improve the ROM, and enhance elbow function in patients, yielding satisfactory short-term outcomes.

This study examines the effects of zearalenone(ZEA)on the survival and function of lu-teinized granulosa cells,and studies the role of activating transcription factor 6(ATF6)in regula-ting apoptosis and functional abnormalities of luteinized granulosa cells induced by ZEA.An in vitro model of luteinized granulosa cells was utilized to examine the effects of ZEA treatment on apoptosis,hormone secretion,and the expression of relevant proteins.Furthermore,the expression of ATF6 was manipulated using siRNA to elucidate its regulatory function in the ZEA-induced damage of luteinized granulosa cells in mice.Our findings revealed that ZEA inhibited the activity of luteinized granulosa cells and reduced the secretion of estradiol(E2)and progesterone(P4)in a dose-dependent manner.The expression levels of p-IRE1,ATF6 and StAR in both low(20 pmol/L)and high(40 μmol/L)ZEA groups were significantly increased after 24 h(P＜0.05).GRP78 had no significant change at low concentration treatment(P＞0.05),but significantly increased at high concentration treatment(P＜0.05).Similarly,ATF4 and p-EIF2α had no significant change at low concentration treatment(P＞0.05),but significantly decreased at high concentration treat-ment(P＜0.05).HSD3B2 and CYP19A1 were significantly decreased in both low and high concentration treatments(P＜0.05).After 48 h of treatment,ATF6 and GRP78 were significantly increased in both low and high concentration treatments(P＜0.05).p-IRE1 was significantly de-creased at low concentration treatment(P＜0.05),but remained unchanged at high concentration treatment(P＞0.05).ATF4,p-EIF2α,HSD3B2 and CYP19A1 were significantly decreased in both low and high concentration treatments(P＜0.05).St AR was significantly increased in both low and high concentration treatments(P＜0.05).Interference with the expression of ATF6 could sig-nificantly reduce the apoptosis induced by low concentration group(P＜0.05),and enhanced the hormone secretion in both high and low concentration groups(P＜0.05).In conclusion,ZEA can cause damage to luteinized granulosa cells and activate ATF6 signaling pathway.Interference with ATF6 can alleviate apoptosis and hormone secretion disturbance induced by low concentration ZEA,but has limited effect on damage caused by high concentration ZEA.

Objective:To investigate the expression characteristics of Zeste enhancer of Zeste homolog 2 (EZH2) in breast cancer tissue and its influence on tumor progression and prognosis.Methods:Transcriptome data of breast cancer tissue and normal breast tissue adjacent to cancer as well as clinical data of patients were obtained from the cancer genome atlas (TCGA) database, gene expression comprehensive database and European genome phenotype archives database, and the difference of EZH2 expression was analyzed using TIMER 2.0 platform. The survival information of breast cancer patients was obtained from the Kaplan Meier Plotter database, and the overall survival time, relapse free survival time and distant metastasis free survival time of breast cancer patients with low EZH2 expression and high EZH2 expression were compared. Select 14 nude mice were selected and randomly divided into si-EZH2 group and control group, with 7 mice in each group.MCF7 culture suspensions transfected with EZH2 knockdown plasmid and control plasmid were inoculated for corresponding group. The body mass and tumor volume of two groups of nude mice inoculated with MCF7 cells were compared at different times. On the 28th day, the nude mice were euthanized and the tumors were dissected to compare the tumor mass of the two groups of nude mice. The normally distributed quantitative data was represented by xˉ ± s. Two independent sample t-tests were used for comparison between two groups, repeated measures ANOVA was used for comparison of body mass and tumor volume between two groups of nude mice at different times, and Bonferroni test was used for pairwise comparison. The comparison of survival rates was conducted using log rank test. Results:A total of 1085 breast cancer tissues and 291 normal adjacent breast tissues were included in the TCGA database. EZH2 expression in breast cancer tissues was higher than that in normal adjacent breast tissues ( P<0.05). In the Kaplan Meier Plotter database, the total survival time, relapse free survival time, and distant metastasis free survival time of breast cancer patients in the EZH2 overexpression group were shorter than those in the EZH2 low expression group ( P=0.013, <0.001, <0.001). After 7 days of inoculation with MCF7 culture suspension, significant subcutaneous tumors were observed on the left back of both groups of nude mice. On the first day, there were no statistically significant difference in body mass between the two groups of nude mice ( P>0.05); On day 7, 13, 19, 25, and 28, the body mass and tumor volume of both groups of nude mice gradually increased (nude mouse body mass: within group F=29.31, P<0.001, between groups F=234.32, P<0.001, Finteraction=16.83, P<0.001; Tumor volume: within group F=34.00, P<0.001, between groups F=193.17, P<0.001, Finteraction=35.61, P<0.001). And the body mass of the siEZH2 group nude mice was higher than that of control group (all P<0.05). On days 19, 25, and 28, tumor the volume of the siEZH2 group nude mice was smaller than that of control group (all P<0.05). On the 28th day, the mass of tumors dissected in the siEZH2 group of nude mice was lower than that in the control group [(0.30±0.07) g vs. (0.61±0.14) g, t=5.16, P<0.001]。 Conclusions:EZH2 is highly expressed in breast cancer tissues and is significantly associated with poor prognosis. Knockdown of EZH2 can significantly inhibit the proliferation and tumor formation of breast cancer cells.

Objective:To develop a nomogram model that combined radiomics and the Breast Imaging Reporting and Data System(BI-RADS),which was used to predict breast cancer in category 4 or 5 lesions of BI-RADS ultrasound(US).Methods:A total of 315 female patients with breast tumors who admitted to The First People's Hospital of Chuzhou and Xinjiang Uygur Autonomous Region Hospital of Traditional Chinese Medicine from November 2021 to September 2024 were selected.In them,211 patients from January 2022 to August 2023 were included in the training group from Xinjiang Uygur Autonomous Region Hospital of Traditional Chinese Medicine,and 104 patients from November 2021 to September 2024 were included in the validation group from The First People's Hospital of Chuzhou.The nomogram model was developed according to the results of multiple regression analysis of the training group.Then,the discrimination,calibration and clinical practicality of nomogram were assessed in predicting breast cancer in the validation group.Results:Radiomics score and BI-RADS category were independent influencing factors in predicting malignant tumors of breast(OR=4.66,4.87,P<0.05).In the ROC curve analysis,the area under curve(AUC)values of the ROC curves of the nomogram models of training group and the validation group were respectively 0.928 and 0.883 in the ability of distinguishing malignant and benign lesions,which all were better than AUC value(0.791,0.864)of the radiomics score,and that(0.825,0.857)of the BI-RADS category,and the differences were statistically significant(Ztraining group=4.026,3.716,and Zverification group=3142,2.847,P<0.05).Conclusion:The nomogram model based on radiomic score and BI-RADS category has potential application value in the prediction for malignant tumor of breast that is BI-RADS US category 4 or 5.

Objective:To investigate the influence of genetic and environmental factors on the clinical characteristics of upper urinary tract calculi in pediatric patients.Methods:This study was a retrospective case series. The clinical data of 179 children under the age of 14 with upper urinary tract calculi treated at Beijing Friendship Hospital，Capital Medical University，from August 2014 to February 2023 were analyzed. There were 121 males（67.60%）and 58 females（32.40%），with a median age at onset of 2.10（1.14，5.17）years. Thirty-three cases（18.44%）had a family history of urinary stone disease. Stone characteristics was defined by CT，with a median stone burden（sum of the diameters of all stones）of 1.3（1.00，1.60）cm. Fifty-four（30.17%）children had staghorn calculi. Multiple stones were present in 92 cases（51.40%），and bilateral stones in 52 cases（29.05%），with hydronephrosis was present in 119 children（66.48%）. The median follow-up time was 67 months，and 36 children（20.11%）experienced stone recurrence. Dietary habits and related information were collected by electronic questionnaire，including a total of 115 children（64.25%）with an unbalanced diet，101（56.42%）with insufficient water intake，and 32 children（17.88%）with a preference for a high-protein diet. Tap water was used as the source of drinking water by 128 patients（71.51%），and 107（59.78%）took dietary supplements. Whole-exome sequencing revealed that 55 children（30.73%）carried pathogenic mutations in stone-related genes. Binary logistic regression was used for univariate analysis of above risk factors. Variables with P < 0.1 in univariate analysis and without multicollinearity were included in multivariate logistic regression to further screen for independent risk factors. Results:Multivariate analysis confirmed that carrying stone-related pathogenic gene mutations（ OR = 3.06，95% CI 1.25?7.45， P = 0.014）and insufficient water intake（ OR = 3.28，95% CI 1.14?9.47， P = 0.028）were independent risk factors for higher stone burden. A high-protein diet（ OR = 2.40，95% CI 1.03?5.63， P = 0.044），carrying stone-related pathogenic gene mutations（ OR = 4.57，95% CI 2.21?9.46， P<0.01），and a family history of stones（ OR = 3.18，95% CI 1.28 ~ 7.91， P = 0.013）were independent risk factors for staghorn calculi. Multiple stones were closely associated with a family history of stones（ OR = 2.66，95% CI 1.15-6.17， P = 0.022）and carrying stone-related pathogenic gene mutations（ OR = 3.22，95% CI 1.60-6.48， P = 0.001）. Moreover，carrying stone-related pathogenic gene mutations（ OR = 5.19，95% CI 2.52?13.82， P < 0.01）were an independent risk factor for stone recurrence，whereas dietary supplement intake was a protective factor（ OR = 0.26，95% CI 0.11?0.62， P = 0.002）. Conclusions:Genetic and environmental factors play significant roles in the occurrence and development of pediatric upper urinary tract stones. A high-protein diet as well as a positive family history of stones are independent risk factors for staghorn calculi，and insufficient water intake is a critical environmental factor for stone formation，while appropriate use of dietary supplements may help reduce the risk of stone recurrence. Genetic testing indicates that approximately 30% of children carry stone-related pathogenic gene mutations，and these patients prone to severe stone and an increased risk of recurrence.