Objective:To analyze the distribution characteristics of UGT1A1 mutant genes (including enhancers, promoters, and exons 1-5) and further explore the correlation between UGT1A1 genotype and clinical phenotypes in patients with inherited hyperunconjugated bilirubinemia.Methods:Patients diagnosed with hereditary hyperunconjugated bilirubinemia at Nanjing Second Hospital from June 2015 to December 2022 were retrospectively analyzed. The UGT1A1 gene was examined using Sanger sequencing in all patients. Complete blood count, liver function, and abdominal imaging examinations were performed. Comparison of categorical variable data using χ2 testor Fisher percision tests. Comparison of continaous veriable data with normal distribution using t-test. Results:112 cases (male:female ratio 81:31, aged 9-70 years) had inherited hyperunconjugated bilirubinemia, with a total of 14 mutation sites identified, of which seven were confirmed mutations, and the frequency ranged from high to low: (TA)n accounted for 50%, c.211G>A (p.G71R) accounted for 49.10%, 1456T>G (p.Y486D) accounted for 16.96%, c.686C>A (p.R229W) accounted for 12.5%, 1091C>T (p.P364L) accounted for 8.04%, and c- 3279T>G accounted for 0.982%. Simultaneously, all patients had one to four mutations, of which only one mutation was the most common (55.36%), followed by two mutations (37.5%), and rare three and four mutations (5.36% and 1.78%). There was no statistical significance in total bilirubin (TBil) levels among the four groups ( F=0.652, P=0.583). One mutation was most common in (TA)n and c.211G>A (p.G71R), among which TA6/TA7 ( n=10) and TA7/TA7 ( n=14) mutations were statistically significant in TBil ( t=2.143, P=0.043). The c.211G>A (p.G71R) heterozygous ( n=9) and isolated ( n=15) mutation had no statistical significance in TBil ( t=0.382, P=0.706). The GS group accounted for 75%, the intermediate group accounted for 16.9%, and the CNS-Ⅱ group accounted for 8%. TBil was statistically significant among the three groups ( F=270.992, P<0.001). There was no statistically significant difference ( χ2=3.317, P=0.19) between mutation 1 (44 cases, 14 cases, and 4 cases, respectively) and mutations ≥ 2 (40 cases, 5 cases, and 5 cases, respectively) in the GS group, intermediate group, and CNS-II group. Conclusion:The number of UGT1A1 gene mutation sites may have no synergistic effect on TBil levels in patients with inherited hyperunconjugated bilirubinemia. TA7/TA7 mutations are not uncommon, and TBil levels are relatively high.

Objective:To explore the value of clinical data and MRI image features in predicting and analyzing the degree of differentiation of hepatocellular carcinoma (HCC).Methods:The clinical and imaging data of 180 patients with surgical outcomes of HCC from March 2015 to June 2019 in the General Hospital of Ningxia Medical University were retrospectively analyzed. Alpha-fetoprotein (AFP)、aspartate aminotransferase (AST)、D-dimer、clinical stage、tumor length、apparent diffusion coefficient(ADC)、enhancement types and so on the clinical and imaging data of the poorly differentiated and non-differentiated HCC were compared and analyzed. Multivariate logistic regression was used to predict independent risk factors for poorly differentiated HCC.Results:Of the 180 HCC patients, 121 were moderately and highly differentiated, and 59 were poorly differentiated. Univariate analysis showed that the patient’s age, gender, AFP, AST, D-dimer level, clinical stage, Child-Pugh score, tumor length, whether the capsule was complete, tumor apparent diffusion coefficient, the maximum level ADC value, enhancement type with HCC differentiation degree were correlated(all P<0.05). Multivariate logistic regression analysis showed that the patients' gender ( OR=4.524, P<0.05), clinical stage ( OR=5.598, P<0.05), D-dimer ( OR=8.576, P<0.05), HCC diameter ( OR=0.498, P<0.05), enhancement types ( OR=2.988, P<0.05), tumour ADC value ( OR=0.059, P<0.05) were independent of poorly differentiated HCC risk factor. Conclusion:MRI image features can be used as an effective indicator to predict the degree of HCC differentiation before surgery. It is more valuable to accurately predict the degree of HCC combined with D-dimer and AFP value.

Objective: This study aims at discussing the relationship between social anxiety and level of hope among left-behind children,the mediator role of perceived social support, and to provide objective reference for mental health education and positive psychological quality improvement. Methods: From September to October 2018,Social Anxiety Scale for Children,Hope Scale and Perceived Social Support Scale were administered among 797 rural left-behind children in Hunan Province of China. Pearson correlation coefficients were used to determine the relationship between variables. Regression analysis and structural equation modeling were used to assess whether perceived social support played a mediator role in social anxiety and hope of rural left-behind children. Results: Social anxiety (6.84±4.28) was negatively correlated with perceived social support (54.18±14.48) and hope (23.80±5.77) (r=-0.23, -0.19, P<0.01). Perceived social support was positively correlated with hope (r=0.49, P<0.01). Perceived social support played a mediator role in the relationship between social anxiety and rural left-behind children’s level of hope. Conclusion This study has indicated the positive influence of perceived social support on the level of hope and buffering role on the adverse impact of social anxiety. More activities to improve social support for rural left-behind children need to be carried out during the process of education and mental health.

Objective:To evaluate the radiation doses from head and chest CT examinations of children in Ningxia, and provide basic data for the optimization of CT radiation doses to children of different ages.Methods:By using stratified cluster sampling method , the dose parameters on head and chest CT scanning, CTDI vol and DLP for the children under 15 years old were sampled within 1-2 weeks from hospitals at different levels in different regions of Ningxia for the calculation of effective doses. The 75th percentile (P75) of CTDI vol and DLP was compared with those recommended by other countries. All children included four age groups: up to 1 year old, 1 to 5 years, 6 to 10 years, 11 to 15 years. Results:There were 39 hospitals and 47 CT scanners in this survey, and 1 134 head scanning and 636 chest scanning were investigating. The 75th percentile (P75) of CTDI vol and DLP for head scanning were 44.2 mGy and 456.2 mGy·cm for those up to 1 year old; 57.2 mGy and 659.6 mGy·cm for 1 to 5 years old, 61.1 mGy and 668.7 mGy·cm for 6-10 years old, and 63.6 mGy and 849.3 mGy·cm for 11-15 years old, respectively. The 75th percentile (P75) of CTDI vol and DLP for chest scanning were 5.0 mGy and 89.2 mGy·cm for those up to 1 year old, 5.9 mGy and 124.8 mGy·cm for 1 to 5 years old, 6.0 mGy and 167.9 mGy·cm for 6 to 10 years, and 7.1 mGy and 235.0 mGy·cm for 11 to 15 years old, respectively. Conclusions:The chest CT radiation dose to children in Ningxia is close to the reported values, but the head CT radiation dose is relatively high in all age groups, especially in infants. The optimization and regulation of head CT radiation doses to children in Ningxia should be strengthened. It is high time to increase dose awareness for pediatricians and radiologists and raise awareness of radiation-related risks.

Objective: To explore the optimization of CT urography imaging parameters and the control measures of radiation dose to patients with different body mass index. Methods: A total of 133 patients who were required to undergo CT urography were prospectively selected in terms of three different types of CT urography scan; firstly, conventional parameter scan (120 kV, CARE Dose4D); secondly, low kV scan (BMI ≤ 22.9∶80 kV, 22.9 < BMI < 30∶100 kV, BMI ≥ 30∶120 kV, CARE Dose4D) and thirdly, low mAs scan (120 kV, 40% reduction in mAs on CARE Dose4D). Noise, signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) of all images were measured as objective evaluation indicators of image quality. The subjective evaluation of the images was performed by two radiologists who had been working for more than five years using a double-blind method and a 5-score system evaluation. The effective dose values (CTDI_vol, DLP, E) in each group were measured. Results: Patients′ effective dose was decreased by 77.7% in 80 kV group and 38.3% in 100 kV group, with a statistical difference between the two groups (Z=-3.330, -5.559, P<0.05). There was a statistically significant difference in renal cortex noise, SNR, CNR and ureteral noise between the 80 kV scan and the routine scan (Z=-3.705-2.392, P<0.05), but no significant difference in ureteral SNR, CNR and renal pelvis noise, SNR, CNR (P>0.05). There was a statistically significant difference in renal cortex noise and SNR between the 100 kV scan group and the routine scan group (Z=-5.096, -3.566, P<0.05), but no statistical difference in renal cortex CNR, renal pelvis and ureteral noise, SNR, CNR(Z=-5.086, -5.912, -2.842, P>0.05). The effective dose from low mAs scan in the three types of patients was decreased by 38.3%, 32.0%, and 34.7%, respectively, with a statistical difference between them (P <0.05). There was no significant difference in noise, SNR, and CNR between renal cortex, renal pelvis and ureter (P>0.05) besides ureteral CNR in the 22.9 < BMI < 30 group (Z=-2.587, P<0.05). The subjective evaluation scores of all images were greater than 3 points. Conclusions In this study, the scan method for low kV and low mAs used for patients with different body mass index can effectively reduce the radiation dose to patients and meet the requirements of clinical diagnosis.

Objective:To investigate the differences and changes of blood flow status of splenic volume, common hepatic artery, splenic arteriovenous, inner diameter of portal vein and hepatic in patients with hypersplenism of different degrees using multi-slice spiral CT whole-liver perfusion model.Methods:42 cases with hypersplenism of chronic hepatitis B with cirrhosis and 15 cases without hepatosplenic disease were collected as controls. All patients underwent multi-slice spiral CT whole-liver perfusion imaging. (1) The differences of spleen volume, common hepatic artery, splenic arteriovenous, and portal vein diameter between different degrees of hypersplenism and the control group were measured and compared. (2) The correlation between spleen volume and the inner diameter of each related vessels were analyzed and compared. (3) The values of perfusion parameters related to the five lobes of the liver in Couinaud segments based on hepatic artery perfusion (HAP), portal venous perfusion (PVP), total hepatic perfusion (TLP) and hepatic artery perfusion index (HPI) were measured and compared. One-way ANOVA was used to analyze the measurement data. The correlation between the spleen volume and the inner diameter of each blood vessel was analyzed by Pearson’s correlation analysis.Results:(1) spleen volume and the inner diameter of splenic artery, splenic vein and portal vein in the cirrhotic hypersplenism group were significantly larger than control group, and the difference was statistically significant ( F = 37.108, 17.484, 23.124, 13.636, P < 0.05). (2) spleen volume and the inner diameter of splenic artery, vein and portal vein in the moderate and severe hypersplenism groups were significantly larger than the mild hypersplenism group, and the difference was statistically significant ( F = 25.418, 13.293, 15.136, 7.093, P < 0.05), but there was no statistically significant difference between the moderate and severe hypersplenism groups ( P > 0.05). (3) The inner diameter of splenic vein, portal vein, and splenic artery was positively correlated with spleen volume ( r = 0.680, 0.548, and 0.726). (4) PVP and TLP of the whole liver in hypersplenism group were lower than control group ( P < 0.05), and the differences were statistically significant ( P < 0.05). HPI in the right posterior lobe of the liver in the moderate and severe hypersplenism group was higher than mild hypersplenism group ( F = 3.555, 4.570, P < 0.05), and there was no significant difference in the HAP in the whole liver among the groups ( P > 0.05), but the HAP in the whole liver in the severe hypersplenism group was lower than control, mild and moderate hypersplenism group. Conclusion:The inner diameter of the splenic arteriovenous in patients with hypersplenism of different degrees has widened to varying degrees, and is consistent with the increase in spleen volume, particularly in moderate and severe cases. Portal venous perfusion and total liver perfusion in patients with hypersplenism of different degrees have declined and the hepatic arterial perfusion in patients with severe hypersplenism is significantly reduced.

Objective: To investigate the present situation of physical activities and psychological capital of left-behind children in rural areas, and analyze the relationship between them, so as to further explore the ways to promote the psychological capital of left-behind children in rural areas. Methods: A total of 1 606 students of grade 3 to 9 were selected through random cluster sampling, and Physical Activity Rating Scale and the Mental Capital Scale was adminstered to Left-behind Children in Rural Areas 797 left-behind children in rural areas was analyzed. Results: The average score of the amount of physical activity of left-behind children in rural areas was 13.70±18.58 points, and the proportion of the small, medium and large amount of physical activity was 75.3%, 16.3% and 8.4% , respectively. There were significant differences in activity intensity, duration, total score of physical activity, and exercise level among left-behind children in rural areas of different genders(t=3.47,2.16,4.09,4.03,P<0.05). There was no significant difference in physical activity among left-behind children in rural areas of different grades, ages and schooling modes(P>0.05). The amount of physical activity was positively correlated with the total score of psychological capital and the five dimensions(P<0.01). Regression analysis showed that the amount of exercise had a positive predictive impact on the psychological capital and five dimensions(P<0.01). Conclusion The scores of physical activity of left-behind children in rural areas were low, and their psychological capital was above the average level. Physical activity had a significant positive impact on their psychological capital, which was an effective way to promote their psychological capital.

Objective: To analyze the clinical and genetic features of progressive cavitating leukoencephalopathy (PCL). Method: The data of clinical and genetic features of 4 PCL patients diagnosed by Beijing Children′s Hospital between January 2015 and January 2016 were analyzed. The cases with complete clinical data retrieved on literature search at China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform and PubMed (up to August 2016) by using search terms of"NDUFV1" ,"NDUFS1" , or"leukoencephalopathy" , were summarized. Result: There were three females and one male, two of which were compatriots. The age of onset ranged from 6 months to 15 months. All four children′s first symptoms were motor development regression, and the developmental milestones were almost normal before the onset. Of the 4 patients, 3 had cognitive impairment, 1 had seizures, 4 had dystonia and pyramidal impairment, 2 had emaciation, and 1 had nystagmus. The lactate concentrations of 4 patients were normal in blood. One patient had lactaciduria in the urinary organic acid analysis. Cranial magnetic resonance imaging (MRI) of all patients showed leukoencephalopathy, involved in the corpus callosum, and three patients accompanied by cystic lesions. Follow up for 2-13 years showed that the physical and language development were improved. Genetic analysis revealed that mutations in NDUFS1 were found in three patients and NDUFV1 mutation was found in one patient. All six mutations (p.Arg377Cys and p. Arg377His in NDUFV1; p. Arg482Glyfs^*5, p.Thr368Pro, p.Tyr454X and p. Asp565Gly in NDUFS1) are novel. Five English case reports including 10 PCL patients were collected. Together with this group of 4 cases, a total of 14 cases were involved. All 14 children patients had motor development regression, 11 cases had cognitive impairment and dystonia, 6 cases had pyramidal impairment, 5 cases had irritability, 4 cases had epilepsy and nystagmus, 3 cases had strabismus and swallowing difficulty. Cranial MRI showed patchy leukoencephalopathy with cavities, involved in the corpus callosum. Follow up for 19 months-15 years that the neurology development were improved slowly in all patients. Conclusion NDUFS1 and NDUFV1 gene mutation screening should be performed firstly in patients with PCL clinical and imaging feature.

Objective:To investigate the criterion-related validity of Menopause-Specific Quality of Life Questionnaire (MENQOL)-Chinese version and to evaluate the effect of menopausal symptoms on health related quality of life. Methods:This study was a cross-sectional survey. Three communities were randomly chosenin Changsha,and then 340 menopausal women aged 45-55 years were randomly chosen from the documented data of the 3 community health service centers. They were required to fill out 4 questionnaires: demographic questionnaire, MENQOL-Chinese version, Kupperman Index (KI) and World Health Organization Quality of Life (WHQOL)-BREF. Correlation analysis was used to measure the criterion-related validity. Results: MENQOL-Chinese version subscales (vasomotor, psycho-social, sexual and physical) and KI total score were positively correlated (r=0.800,0.751, 0.607, 0.906 respectively); while negatively correlated with WHOQOL-BREF total score (r =-0.694,-0.851,-0.585,-0.873 respectively); MENQOL-Chinese version subscales (vasomotor, psycho-social, sexual and physical) were signiifcantly correlated with WHOQOL-BREF subscales (physical, psychological, social relationship, environment), and the physical domain was the highest among the correlation coeffcients (r=-0.915). Conclusion:MENQOL-Chinese version shows relatively high criterion-related validity compared with KI and WHOQOL-BREF, which can be widely used to measure the quality of life of menopause women in China.

Hepatitis B virus (HBV)-induced hepatocellular carcinoma (HCC) is one of the most frequently occurring cancers. Hepadnaviral DNA integrations are considered to be essential agents which can promote the process of the hepatocarcinogenesis. More and more researches were designed to find the relationship of the two. In this study, we investigated whether HBV DNA integration occurred at sites of DNA double-strand breaks (DSBs), one of the most detrimental DNA damage. An 18-bp I-SceI homing endonuclease recognition site was introduced into the DNA of HepG2 cell line by stable DNA transfection, then cells were incubated in patients' serum with high HBV DNA copies and at the same time, DSBs were induced by transient expression of I-SceI after transfection of an I-SceI expression vector. By using nest PCR, the viral DNA was detected at the sites of the break. It appeared that integration occurred between part of HBV x gene and the I-SceI induced breaks. The results suggested that DSBs, as the DNA damages, may serve as potential targets for hepadnaviral DNA insertion and the integrants would lead to widespread host genome changes necessarily. It provided a new site to investigate the integration.