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.

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.

Objective:To compare the effectiveness, safety and postoperative recurrence of percutaneous nephrolithotomy (PCNL) with Holmium laser for upper urinary calculi in Uyghur and Han pediatric patients.Methods:The data of 123 Uyghur and 71 Han pediatric patients with upper urinary calculi admitted to First People's Hospital of Kashgar, Xinjiang and Beijing Friendship Hospital, Capital Medical University respectively, from August 2018 to August 2023, were retrospectively reviewed. The gender [males 73 (59.3%) vs.46 (64.8%) ], laterality (single/bilateral: 94/29 vs. 59/12), hydronephrosis [115 (93.5%) vs. 63 (88.7%)] and anatomical abnormalities [2(1.6%) vs. 5(7.0%)] of Uyghur and Han children were not statistically significant ( P>0.05). Uyghur children were older than Han children [5 (3, 7) vs. 3 (2, 6) years old], with a higher proportion of emaciated children [27 (21.9%) vs. 6 (8.5%) cases], a larger maximum stone diameter [(2.30±0.78) vs. (1.96±1.50) cm] and a lower proportion of multiple stones [46 (37.4%) vs. 52 (73.2%) cases] (all P<0.05). All the patients were treated with Holmium laser PCNL. The channels of the procedures in this study include F12-18 small channels and visual puncture channels. The operation datas, stone-free rate (SFR), complication rate (CR) and stone recurrence rate of the two groups were compared. Meanwhile, multiple logistic regression analysis was used to explore the factors influencing these indicators. Results:The operation time for Uyghur children was significantly longer than that of Han children [75.0 (58.0, 93.0) vs. 30.0 (20.0, 48.8) min]. Additionally, a greater proportion of Uyghur children underwent PCNL with F12-18 small channels than Han children [119 (96.7%) vs. 49(69.0%) cases]. The SFR [89.4%(110/123)vs.88.7%(63/71)], and postoperative CR [31.7%(39/123)vs. 26.8%(19/71)] in Uyghur and Han patients were not significantly different (all P>0.05). The recurrence rate in Uyghur children was higher than that observed in Han children [28.1%(25/89) vs. 15.6%(10/64), P=0.033]. The multivariate logistic regression analysis results indicated that the maximum stone diameter was an independent risk factor for SFR in both groups ( OR=0.401, 95% CI 0.191-0.842, P=0.016). Similarly, maximum stone diameter ( OR=1.896, 95% CI 1.088-3.304, P=0.024) and multiple stones ( OR=3.225, 95% CI 1.409-7.384, P=0.024) were identified as independent risk factors for CR. Ethnicity was not independent risk factor for SFR( OR=0.679, 95% CI 0.215-2.140), CR( OR=1.047, 95% CI 0.495-2.215) and stone recurrence rate( OR=0.820, 95% CI 0.285-2.356, all P>0.05). Conclusions:In comparison to Han pediatric patients during the same period, Holmium laser PCNL had similar SFR and CR for treating Uyghur children with upper urinary calculi, who were older, more emaciated and had larger average stone diameters. The higher postoperative recurrence rate of Uyghur children is likely to be associated with higher stone burden. The multivariate logistic regression analysis results showed that ethnicity was not an influential factor in SFR, complication rates, and stone recurrence rates. The findings need to be further validated in larger prospective cohort studies.

Objective:To learn about the single nucleotide polymorphism (SNP) population structure and regional distribution characteristics of Yersinia pestis in the natural focus of plague in Qinghai-Tibet Plateau. Methods:A total of 319 representative strains of Yersinia pestis isolated from natural focus of plague in Qinghai-Tibet Plateau from 1954 to 2020 were selected, and 2 298 SNP loci included in the global Yersinia pestis phylogenetic tree were compared by whole genome sequencing technology. MEGA 6.0 software was used to construct phylogenetic trees of 319 strains of Yersinia pestis from Qinghai-Tibet Plateau, determine the SNP population structure of Yersinia pestis in the focus, and describe its regional distribution characteristics. Results:The 319 strains of Yersinia pestis isolated from Qinghai-Tibet Plateau natural plague foci were distributed in 5 clades, namely 1.IN, 2.ANT, 3.ANT, 0.PE and 2.MED. The 1.IN clade contained 209 strains (65.52%, 209/319), which was the dominant population of strains in Qinghai Province, accounting for 90.51% (143/158). The 2.ANT clade contained 83 strains (26.02%, 83/319), which was the dominant population in Tibet Autonomous Region, accounting for 67.24% (78/116). The 3.ANT, 0.PE, and 2.MED clades contained 12 (3.76%, 12/319), 9 (2.82%, 9/319) and 6 strains (1.88%, 6/319), respectively, which were scattered in Qinghai Province, Gansu Province, Sichuan Province, Tibet Autonomous Region, and Xinjiang Uygur Autonomous Region under the jurisdiction of Qinghai-Tibet Plateau. Conclusion:The SNP population structure of Yersinia pestis in natural focus of plague in Qinghai-Tibet Plateau is relatively rich, and the strains are distributed in 5 clades: 1.IN, 2.ANT, 3.ANT, 0.PE and 2.MED, showing the distribution characteristics of specific regions.

G-protein signaling modulator 2 is a member of the GPSM family, with emerging significance in various diseases including Chadley-McCullough syndrome, rheumatoid arthritis, and systemic lupus erythematosus. Furthermore, its involvement extends to tumor pathogenesis, encompassing non-small-cell lung cancer, breast cancer, hepatocellular carcinoma, pancreatic carcinoma, serous ovarian cancer, Ewing's sarcoma, and osteosarcoma, influencing proliferation, invasion, and metastasis. There is no relevant review on the mechanism of GPSM2 in tumor progression. This paper will summarize the research progress on GPSM2 in tumors in recent years, focusing on its role and mechanism, with the aim of providing references and guidance for further research.

Objective:To investigate the effect of ultrasound measurement of optic nerve sheath diameter (ONSD) in adult patients with elevated intracranial pressure (ICP).Method:From June 2017 to March 2020, A total of 64 patients (32 patients with elevated ICP and 32 patients with normal ICP) were placed with invasive intracranial pressure monitoring probe in Beijing Pinggu Hospital. Their ICP and ONSD were continuously monitored. Thirty-two healthy volunteers were recruited as control group to check ONSD. The correlation between ONSD and ICP, and the changes of ICP and ONSD after osmotic therapy were observed.Results:The ONSD in ICP increased group was significantly higher than that in normal ICP group: (5.77 ± 0.3) mm vs. (5.01 ± 0.1) mm, with statistical difference ( P<0.05), and there was a positive correlation between ONSD and ICP. There was no significant difference in ONSD between normal ICP group and control group ( P>0.05). Conclusions:Ultrasound monitoring ONSD can reflect the level of ICP and evaluate the effect of osmotic therapy and the prognosis of patients. Bedside ultrasound examination of optic nerve sheath diameter could be used to judge ICP and to evaluate the curative effect of osmotic therapy, with high clinical application value.

Objective To investigate the value of quantitative evaluation in white matter damage caused by delayed neuropsychiatric sequelae (DNS) after carbon monoxide poisoning (CO) with diffuse kurtosis imaging (DKI).Methods A prospective study was conducted from November 2016 to February 2019 in 28 patients diagnosed as having DNS after CO poisoning and 30 healthy controls in our hospital.DKI scans were performed within 7 d of onset and DKI-derived parameters (9 regions of interest),including mean kurtosis (MK),axial kurtosis (AK),and radial kurtosis (RK),were obtained.Mini Mental State Examination Scale (MMSE),Barthel Index,Verbal Fluency Test (VFT),and Digital Breadth Test (DST) were performed on both subjects to conduct neurocognitive assessment;multivariate regression analysis was performed to determine the statistical relations of scores of above neurocognitive scales with AK values of ROIs.Results As compared with those in the control group,the MK,AK and RK values in all ROIs showed an increased trend in DNS group;among which,the anterior semioval center,posterior semioval center and frontal lobe enjoyed the most obvious increase,with significant differences (P＜0.05).In the genu of corpus callosum,body of corpus callosum and parietal lobe,the AK value of DNS group was significantly higher than that in the controls (P＜0.05).Except for temporal lobe and occipital lobe,area under the curve (AUC) of AK value of other ROIs in diagnosing DNS was larger than that of RK and MK values of other ROIs;AK value of anterior semioval center (AUC=0.802,P=0.000),posterior semioval center (AUC=0.785,P=0.000),frontal lobe (AUC=0.749,P=0.001),genu of corpus callosum,(AUC=0.730,P=0.003),parietal lobe (AUC=0.699,P=0.009) and body of corpus callosum (AUC=0.654,P=0.045) had better performance than RK and MK in diagnosing DNS,with statistically significant differences (P＜0.05).Multivariate regression analysis results show that the DST value (reverse) is the independent influencing factors of AK values of anterior semioval center,genu of corpus callosum,and frontal lobe;VET (vegetable) is the independent influencing factors of AK values of body of corpus callosum,age is the independent influencing factors of AK values of posterior semioval center,splenium of corpus callosum,and frontal,temporal and occipital lobes;and education is the independent influencing factors of AK values of temporal lobe.Conclusion DKI can quantitatively evaluate the microstructural damage of white matter caused by DNS,and the increase of AK is related to the decrease of neurological function in patients with DNS.

Purpose To explore the application value of diffusion kurtosis imaging (DKI) in assessing brain injury in different clinical stages caused by carbon monoxide (CO) poisoning. Materials and Methods MR plain scan, diffusion weighted imaging (DWI) and DKI scans were performed in 26 patients with acute CO poisoning, 17 patients with delayed neuropsychologic sequelae (DNS), 15 patients with chronic phase, and 21 healthy volunteers (control group). The DKI parameter values in regions of interest among the four groups were compared, and the correlation between the values of each parameter and DWI apparent diffusion coefficient (ADC) value was analyzed. Results ①The mean kurtosis (MK) values in the area of pallidum in acute phase, DNS phase, and chronic phase were 1.51±0.15, 1.07±0.11 and 0.59±0.11, respectively; among which the MK value in acute phase was significantly higher than that in the control group (1.06±0.06, P<0.05), and the chronic phase was significantly lower than the DNS phase and the control group (P<0.05); compared with the control group, the MK in centrum semiovale and subcallosal zone was relatively higher in acute phase and DNS phase, lower in chronic phase, both showing the most significant increase in DNS phase (P<0.05). ②In each region of interest, the MK value and mean diffusivity (MD) all showed an increase after decrease. Among them, MD values in the area of pallidum in acute phase were significantly lower than those in DNS and control group (0.74±0.11 vs. 0.85±0.07 and 0.98±0.12, P<0.05), and the centrum semiovale and callosum were the smallest in DNS phase (0.67±0.09 and 0.80±0.05, respectively), significantly lower than that in the control group (P<0.05). ③The fractional anisotropy (FA) values of all regions of interest showed a progressive decrease in different clinical stages, in which pallidum and centrum semiovale were the lowest in chronic phase (0.19±0.04 and 0.22±0.03, respectively), significantly lower than those in DNS phase and the control group (P<0.05). ④There was a positive correlation between MD values and ADC values in different clinical stages of CO poisoning in each region of interest (P<0.01). Conclusion DKI can quantitatively evaluate the changes of brain gray matter microarchitecture after CO poisoning, which is helpful to understand the characteristics of brain injury in different clinical stages caused by CO poisoning from the microscopic level.

Objective To study the clinical characteristics of Japanese encephalitis (JE) in 34 adult patients and to improve the level of diagnosis of this disease.Methods The clinical manifestations,laboratory results and radiological features of 34 adult patients with JE in our hospital from July 2017 to September 2017 were summarized and the progonsis was observed.The modified Rankin Scale (mRS) was used to evaluate the progonsis.Results Eighteen patients were males and 16 patients were females with the average age of (45.39 ± 16.34) years in 34 patients who were diagnosed as JE.The major clinical features of JE patients included fever (34,100％) with the average temperature of (39.4 ± 1.1) ℃ on admission,headache (26,76％),seizures (7,21％),decreased consciousness (25,74％) on day 2.6 ± 1.4 after the onset,respiratory failure (9,26％) on day 3.8 ± 1.6 after the onset.The major features of laboratory results included white blood cells increase (15,44％),blood hematocrit decrease (25,74％),eosinophil absolute value decrease (29,85％),cerebrospinal fluid pressure increase (12,35％),cerebrospinal fluid protein increase (27,79％),cerebrospinal fluid white blood cells increase (30,88％).Brain MRI scan of abnormal signal was found abnormal in up to 54％patients (14/26),involving the thalamus,basal ganglia,mesencephalon,temporal lobe,hippocampus and occipital lobe,especially in the area of bilateral thalamus and mesencephalon.The follow-up showed three cases were dead;mRS score was 0 in twenty-one cases,1 or 2 in five cases,3 or 4 in three cases,5 in two cases five-six months after onset;the sequelaes were cognitive impairment in nine patients and movement disorder in five patients.Conclusions The clinical symptoms of JE in adults are severe.The main clinical manifestations of JE are hyperthermia,disturbance of consciousness,seizures and respiratory failure,with characteristic imaging findings on brain MRI.JE is a disease with high mortality and severe long-term sequelae.

Objective To evaluate the safety and feasibility of reconstruction technique of atrial septum puncture trajectory with the help of three - dimensional mapping system in performing radiofrequency catheter ablation for atrial fibrillation. Methods Sixty- eight consecutive patients with atrial fibrillation received two times of atrial septum puncture under fluoroscopic guidance to perform radiofrequency catheter ablation. Carto 3, a three - dimensional mapping system, was employed to construct the real time left atrium and pulmonary vein anatomy by using a rapid anatomical mapping (FAM) model. Then, FAM model was used to construct the trajectory, along which the ablation catheter passed from left atrium through the long sheath to the right atrium and finally into the inferior vena cava. The safety and the feasibility of this catheter trajectory, which could allow the catheter repeatedly enter the left atrium, were evaluated. Results By using 3D-reconstruction technique of atrial septum puncture trajectory, the ablation catheter could repeatedly enter the left atrium at right anterior oblique position as well as at left anterior oblique position under zero X-ray fluoroscopy. The average time spent for the procedure was (12. 18±2. 28) seconds. No any complication occurred. Conclusion The reconstruction technique of atrial septum puncture trajectory with the help of three-dimensional mapping system is simple and feasible, the ablation catheter can repeatedly enter the left atrium, the X-ray exposure time spent for catheter ablation of atrial fibrillation can be greatly reduced. (J Intervent Radiol, 2018, 27: 204-206)