1.Correlation analysis of genetic and environmental factors with clinical characteristics of pediatric upper urinary tract calculi
Youquan ZHAO ; Xiaochuan WANG ; Boyu YANG ; Chen NING ; Houyu ZHOU ; Huimin ZHAO ; Xiaochen WANG ; Ruiyu YUE ; Shao ZHANG ; Manjiang SUN ; Jun LI
Chinese Journal of Urology 2025;46(10):728-733
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.
2.Correlation analysis of genetic and environmental factors with clinical characteristics of pediatric upper urinary tract calculi
Youquan ZHAO ; Xiaochuan WANG ; Boyu YANG ; Chen NING ; Houyu ZHOU ; Huimin ZHAO ; Xiaochen WANG ; Ruiyu YUE ; Shao ZHANG ; Manjiang SUN ; Jun LI
Chinese Journal of Urology 2025;46(10):728-733
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.
3.Measurement and algorithm of healthy life expectancy: a scoping review
Wanqi WANG ; Jinghan QU ; Mengze LIU ; Minrui LI ; Boying ZANG ; Junwen ZHOU ; Houyu ZHAO ; Rui ZHANG ; Yunning LIU ; Lijun WANG ; Xia WAN ; Feng SUN ; Jing WU
Chinese Journal of Epidemiology 2022;43(12):1986-1994
Objective:Healthy life expectancy (HLE), which combines life expectancy with health, is an essential comprehensive measure of life length and quality. This article aimed to systematically review the methods for defining and measuring HLE and describe application studies published, providing a reference for decision makers to select and develop methods suitable for China's conditions to measure HLE.Methods:Seven Chinese and English literature databases were searched up to May 7, 2022, and several related reviews and bibliography were manually retrieved. Systematic reviews and empirical research were included concerning HLE indicators and measurement of HLE. Information including the study area, type of the study, study population, HLE index, measurement method, data sources, and results from application studies published in the last five years were extracted. The evolution of the definition of HLE, the scope of different indicators, the measurement scale of health, and measurement methods, were all collected. Results of the empirical research related to measurement methods of indicators were summarized. The study followed the scoping review framework and was written according to the PRISMA-ScR statement.Results:A total of 84 articles were included, including 13 reviews, 17 original studies related to HLE index definition, ten original studies related to index measurement, and 44 empirical studies conducted in the past five years. There were as many as 20 indicators related to HLE, and each scale had its emphasis. A total of ten methods measuring HLE were identified, which vary in the definition of health, whether using weight, and the data type. The most commonly used indicators in the past five years were disability-free life expectancy and HLE. For the method of HLE calculation, Sullivan's method was mainly used for cross-sectional data, and the multistate life table was mainly used for longitudinal data.Conclusions:There are various definitions and measurement methods of HLE, but none are suitable for all scenarios. To summarize the HLE concept, health evaluation techniques, measurement methods, and application studies published worldwide can provide a reference for the localization of HLE measurement in China.
4.Lack of correlation of vacA genotype, cagA gene of Helicobacter pylori and their expresson products with various gastroduodenal diseases
Youli ZHANG ; Houyu LIU ; Kang ZHOU
Chinese Medical Journal 2001;114(7):703-706
Abstract:Objective To investigate the correlation among vacA genotypes, cagA gene, VacA, serum CagA antibodies of Helicobacter pylori (H. pylori) and gastroduodenal diseases. Methods vacA genotypes and cagA gene of 62 H. pylori strains isolated from patients with chronic gastritis, peptic ulcer and gastric cancer were tested by polymerase chain reaction, and Hela cell assay for VacA activity in vitro. Serum CagA antibodies were measured by EIA method in the same patients.Results All 62 H. pylori strains possessed the vacA gene and vacA genotypes of all strains were type s1a/m2. Total positive rate of cagA gene was 56.45%; the positive rates of cagA gene of H. pylori strains isolated from patients with chronic gastritis, peptic ulcer and gastric cancer were 55.56%, 54.17% and 63.64%, respectively (P>0.05). The total positive rate of VacA was 37.10%; the positive rates of VacA produced by H. pylori strains isolated from patients with chronic gastritis, peptic ulcer and gastric cancer were 33.33%, 29.17% and 63.64%, respectively (P>0.05). The positive rates of CagA antibodies in patients with chronic gastritis, peptic ulcer and gastric cancer were 70.37%, 79.17% and 40.00%, respectively (P>0.05). The total positive rate of CagA antibodies was 68.85%.Conclusion There was no correlation among cagA gene and vacA genotypes of H. pylori, VacA, serum CagA antibodies and various gastroduodenal diseases.
5.Sequence Variations of the Hypervariable Region of HCV and Their Clinical Significance
Shuncai ZHANG ; Wei WANG ; Kang ZHOU ; Houyu LIU
Fudan University Journal of Medical Sciences 2000;27(6):480-483
Purpose To understand the clinical significance of sequence variations in the hypervariable region(HVR) of hepatitis C virus during infections. Methods 8 cases of acute hepatitis C and 20 of chronic hepatitis C were followed for two years.Blood samples were taken at intervals of six months for analysis of HCV?HVR sequences by reverse transcription-polymerase chain reaction(RT?PCR) and direct sequencing methods. Results Results showed that HCV?HVR sequences of the 28 patients changed in various degrees.92% of these nucleotide substitutions led to changes of corresponding amino-acid sequences.Only 8% of changed nucleotide were synonymous substitutions.Variation of amino acid ranged from 1 to 20(mean 8,30%).The most common nucleotide substitution(62%) occurred in the first position of codon,31% in the second and the rest in the third.HVR variation rate was 0.89×10-1 per genome site per year in acute hepatitis C,compared with 2.31×10-1 per genome site per year in chronic hepatitis C (P<0.05),but variations had no relation to HCV subtype.Variation of HVR in the flare up type (ALT>150 u/L) was much more than that in the quiescent type (ALT<100 u/L). Conclusions Our results suggested that sequence variation of HVR during HCV chronic infection seems to be an adaptive response to HCV to evade the host immune pressure and might play a major role in the establishment of persistent infection as well as in the flare-up of hepatitis.
6.Sequence variations of the hypervariable region of hepatitis C virus and their clinical significance
Shunca ZHANG ; Wei WANG ; Kang ZHOU ; Houyu LIU
Chinese Medical Journal 2000;113(12):1075-1079
Objective To understand the clinical significance of sequence variations in the hypervariable region (HVR) of hepatitis C virus during infection. Methods Eight patients with acute hepatitis C and 20 patients with chronic hepatitis C were followed up for two years. Blood samples were taken at intervals of six months for analysis of HCV-HVR sequences by reverse transcription-pelymerase chain reaction (RT-PCR) and direct sequencing methods. Results HCV-HVR sequences of the 28 patients changed in various degrees. 92% of these nuclentide substitutions led to changes of corresponding amino acid sequence. Only 8% of changed nucleotide were synonymous substitutions. Of 27 amino acids variation of amino acid ranged from 1 to 20 (mean 8, 30%). The most common nucleotide substitution (62%) occurred in the first position of codon, 31% in the second and the rest in the third. HVR variation rate wes 0.89×10-1 per genome site per year in acute hepatitis C, compared with 2.31×10-1 per genome site per year in chronic hepatitis C (P<0.05), but had no relafian to HCV subtype. Variation of HVR in the flare up type (ALT>150 μ/L) was much more than that in the quiescent type (ALT<100 μ/L). Conclusion Our results suggested that sequence variation of HVR during HCV chronic infection seems to be an adaptive response to HCV to evade the host immune pressure and might play a major role in the establishment of persistent infection as well as in the flare-up of hepatitis.
7.The Latent Structure of Sense of Coherence in China
Chinese Journal of Clinical Psychology 1993;0(02):-
Objective: To explore the latent structure of Antonovsky's Sense of Coherence(SOC) Scale(13-items) in China.Methods: Data from 656 Chinese subjects were analysed by EFA(exploratory factor analysis) and CFA(confirmatory factor analysis).Results: As a global construct,Antonovsky's theory that an individual's SOC is composed of meaningfulness,comprehensibility and manageability was supported.Conclusion: On the whole,Antonovsky's Sense of Coherence(SOC) Scale(13-items) was suitable to Chinese subjects,however several items of the scale were found to be unfit to the Chinese subjects,and revision of them should be done in further study.

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