1.Genotype and phenotype correlation analysis of retinitis pigmentosa-associated RHO gene mutation in a Yi pedigree
Yajuan ZHANG ; Hong YANG ; Hongchao ZHAO ; Dan MA ; Meiyu SHI ; Weiyi ZHENG ; Xiang WANG ; Jianping LIU
International Eye Science 2025;25(3):499-505
AIM: To delineate the specific mutation responsible for retinitis pigmentosa(RP)in a Yi pedigree, and to analyze the correlation of RHO gene mutation with clinical phenotype.METHODS:A comprehensive clinical evaluation was conducted on the proband diagnosed with RP and other familial members, complemented by a thorough ophthalmic examination. Peripheral blood samples were obtained from the proband and familial members, from which genomic DNA was extracte. Subsequent whole exome sequencing(WES)was employed to identify the variant genes in the proband. The identified variant gene was validated through Sanger sequencing, then an in-depth analysis of the mutation genes was carried out using genetic databases to ascertain the pathogenic mutation sites. Furthermore, an exhaustive analysis was performed to delineate the genotype and phenotype characteristics.RESULTS:The RP pedigree encompasses 5 generations with 42 members, including 19 males and 23 females. A total of 13 cases of RP were identified, consisting of 4 males and 9 females, which conforms to the autosomal dominant inheritance pattern. The clinical features of this family include an early onset age, rapid progression, and a more severe condition. The patients were found to have night blindness around 6 years old, representing the earliest reported case of night blindness in RP families. The retina was manifested by progressive osteocytoid pigmentation of the fundus, a reduced visual field, and significantly decreased or even vanished a and b amplitudes of ERG. The combined results of WES and Sanger sequencing indicated that the proband had a heterozygous missense mutation of the RHO gene c.1040C>T:p.P347L, where the 1 040 base C of cDNA was replaced by T, causing codon 347 to encode leucine instead of proline. Interestingly, this mutation has not been reported in the Chinese population.CONCLUSION:This study confirmed that the mutant gene of RP in a Yi nationality pedigree was RHO(c.1040C>T). This variant leads to the change of codon 347 from encoding proline to encoding leucine, resulting in a severe clinical phenotype among family members. This study provides a certain molecular, clinical, and genetic basis for genetic counseling and gene diagnosis of RHO.
2.Genotype and phenotype correlation analysis of retinitis pigmentosa-associated RHO gene mutation in a Yi pedigree
Yajuan ZHANG ; Hong YANG ; Hongchao ZHAO ; Dan MA ; Meiyu SHI ; Weiyi ZHENG ; Xiang WANG ; Jianping LIU
International Eye Science 2025;25(3):499-505
AIM: To delineate the specific mutation responsible for retinitis pigmentosa(RP)in a Yi pedigree, and to analyze the correlation of RHO gene mutation with clinical phenotype.METHODS:A comprehensive clinical evaluation was conducted on the proband diagnosed with RP and other familial members, complemented by a thorough ophthalmic examination. Peripheral blood samples were obtained from the proband and familial members, from which genomic DNA was extracte. Subsequent whole exome sequencing(WES)was employed to identify the variant genes in the proband. The identified variant gene was validated through Sanger sequencing, then an in-depth analysis of the mutation genes was carried out using genetic databases to ascertain the pathogenic mutation sites. Furthermore, an exhaustive analysis was performed to delineate the genotype and phenotype characteristics.RESULTS:The RP pedigree encompasses 5 generations with 42 members, including 19 males and 23 females. A total of 13 cases of RP were identified, consisting of 4 males and 9 females, which conforms to the autosomal dominant inheritance pattern. The clinical features of this family include an early onset age, rapid progression, and a more severe condition. The patients were found to have night blindness around 6 years old, representing the earliest reported case of night blindness in RP families. The retina was manifested by progressive osteocytoid pigmentation of the fundus, a reduced visual field, and significantly decreased or even vanished a and b amplitudes of ERG. The combined results of WES and Sanger sequencing indicated that the proband had a heterozygous missense mutation of the RHO gene c.1040C>T:p.P347L, where the 1 040 base C of cDNA was replaced by T, causing codon 347 to encode leucine instead of proline. Interestingly, this mutation has not been reported in the Chinese population.CONCLUSION:This study confirmed that the mutant gene of RP in a Yi nationality pedigree was RHO(c.1040C>T). This variant leads to the change of codon 347 from encoding proline to encoding leucine, resulting in a severe clinical phenotype among family members. This study provides a certain molecular, clinical, and genetic basis for genetic counseling and gene diagnosis of RHO.
3.Research progress on association between shift work and cardiometabolic risk in nurses
Meng FAN ; Yajuan YANG ; Fangbiao TAO ; Xiaoyan WU
Journal of Environmental and Occupational Medicine 2025;42(4):512-516
Cardiometabolic disease is one of the leading causes of morbidity and mortality in adults. In recent years, the prevalence of cardiometabolic disease has increased year by year, becoming a major problem in the global disease burden. The occurrence and development of cardiometabolic risk are affected by many factors. Shift work as an occupational hazard has been widely concerned. Nurses are a typical population for shift work, but few studies have looked at the association between their shift work and cardiometabolic risk. This article reviewed the current situation of cardiometabolic risk and the research progress on the association between shift work and cardiometabolic risk among nurses. The results showed that cardiometabolic risk is prevalent in the nurse population. Shift work is associated with cardiometabolic risks such as metabolic syndrome, cardiovascular disease, diabetes, and dyslipidemia, and is mediated by circadian rhythm disorder, hormone secretion disorder, and stress response. However, the causal relationship between shift work and cardiometabolic risk is still unclear, and further prospective cohort studies should be conducted to improve the understanding of the impact of shift work on cardiometabolic risk in order to improve the cardiometabolic health status of nurses.
4.Internal tension relieving technique assisted anterior cruciate ligament reconstruction to promote ligamentization of Achilles tendon grafts in small ear pigs in southern Yunnan province
Bohan XIONG ; Guoliang WANG ; Yang YU ; Wenqiang XUE ; Hong YU ; Jinrui LIU ; Zhaohui RUAN ; Yajuan LI ; Haolong LIU ; Kaiyan DONG ; Dan LONG ; Zhao CHEN
Chinese Journal of Tissue Engineering Research 2025;29(4):713-720
BACKGROUND:We have successfully established an animal model of small ear pig in southern Yunnan province with internal tension relieving technique combined with autologous Achilles tendon for anterior cruciate ligament reconstruction,and verified the stability and reliability of the model.However,whether internal tension relieving technique can promote the ligamentalization process of autologous Achilles tendon graft has not been studied. OBJECTIVE:To investigate the differences in the process of ligamentalization between conventional reconstruction and internal reduction reconstruction of the anterior cruciate ligament by gross view,histology and electron microscopy. METHODS:Thirty adult female small ear pigs in southern Yunnan province were selected.Anterior cruciate ligament reconstruction was performed on the left knee joint with the ipsilateral knee Achilles tendon(n=30 in the normal group),and anterior cruciate ligament reconstruction was performed on the right knee joint with the ipsilateral knee Achilles tendon combined with the internal relaxation and enhancement system(n=30 in the relaxation group).The autogenous right forelimb was used as the control group;the anterior cruciate ligament was exposed but not severed or surgically treated.At 12,24,and 48 weeks after surgery,10 animals were sacrificed,respectively.The left and right knee joint specimens were taken for gross morphological observation to evaluate the graft morphology.MAS score was used to evaluate the excellent and good rate of the ligament at each time point.Hematoxylin-eosin staining was used to evaluate the degree of ligament graft vascularization.Collagen fibers and nuclear morphology were observed,and nuclear morphology was scored.Ultrastructural remodeling was evaluated by scanning electron microscopy and transmission electron microscopy. RESULTS AND CONCLUSION:(1)The ligament healing shape of the relaxation group was better at various time points after surgery,and the excellent and good rate of MAS score was higher(P<0.05).Moreover,the relaxation group could obtain higher ligament vascularization score(P<0.05).(2)The arrangement of collagen bundles and fiber bundles in the two groups gradually tended to be orderly,and the transverse fiber connections between collagen gradually increased and thickened,suggesting that the strength and shape degree of the grafts were gradually improved,but the ligament remodeling in the relaxation group was always faster than that in the normal group at various time points after surgery.(3)The diameter,distribution density,and arrangement degree of collagen fibers in the relaxation group were better than those in the normal group at all time points,especially in the comparison of collagen fiber diameter between and within the relaxation group(P<0.05).
5.Association between physical activity and inflammatory markers in college students
JIANG Tangjun, LI Tingting, TAO Shuman, ZOU Liwei, YANG Yajuan, TAO Fangbiao, WU Xiaoyan
Chinese Journal of School Health 2025;46(6):847-851
Objective:
To analyze the association and dose response relationship between physical activity and inflammatory markers in college students, so as to provide a reference for promoting cardiometabolic health in college students.
Methods:
A cluster random sampling method was used to select 747 college students from two universities in Hefei, Anhui Province and Shangrao, Jiangxi Province from April to May 2019. Physical activity was assessed by using the International Physical Activity Questionnaire-Short Form (IPAQ-SF), and peripheral blood was collected to detect plasma inflammatory factor levels [including hypersensitive C reactive protein (hsCRP), interleukin-10 (IL-10), interleukin-1β (IL-1β), interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α)]. The differences between the groups were compared by using the χ 2 test and the Kruskal-Wallis rank sum test, and the association between physical activity and inflammatory markers was analyzed by using the Generalized Linear Model. The dose response relationship between physical activity and inflammatory markers was analyzed using the Restricted Cubic Spline Model.
Results:
The proportions of low physical activity, moderate physical activity, and high physical activity groups of college students were 15.9%, 53.7% and 30.4%, respectively. The levels of hsCRP, IL-10, IL-1β, IL-6 and TNF-α in the high physical activity group were 0.38(0.21, 1.10)mg/L, 70.74(47.90, 116.43)pg/mL, 1.75(1.21, 2.64)pg/mL, 4.33(2.93, 6.82) pg/mL , 5.27(3.89, 7.30)pg/mL,the levels in the low physical activity group were 0.80(0.31, 1.30)mg/L, 73.88 (47.90, 124.24)pg/mL, 1.88(1.42, 2.81) pg/mL, 4.82 (3.64, 6.67) pg/mL, 5.63 (4.34, 7.62)pg/mL, the levels in the moderate physical activity group were 0.63(0.25, 1.30)mg/L, 89.78(58.21, 127.65)pg/mL, 2.21(1.59, 3.27)pg/mL, 5.15( 3.72 , 7.72)pg/mL, 5.87( 4.63 , 8.00)g/mL, and the differences were statistically significant ( H=10.66, 11.38, 27.79, 14.13, 9.44, P <0.05). After adjusting for variables such as gender, body mass index, smoking, alcohol consumption and health status, the results of Generalized Linear Model showed that compared with the high physical activity group, the low physical activity group ( OR=2.20, 95%CI = 1.46- 3.31) and the moderate physical activity group ( OR=1.65, 95%CI =1.22-2.25) were more likely to have high levels of hsCRP, and the moderate physical activity group was more likely to have high levels of IL-1β ( OR=1.85, 95%CI =1.36-2.51), IL-6 ( OR=1.44, 95%CI =1.06-1.96), and TNF-α ( OR=1.43, 95%CI =1.05-1.94) ( P <0.05). The Restricted Cubic Spline Model showed that there was no linear dose response relationship between the time of moderate to vigorous physical activity weekly and IL-10, IL-6, II-1β, and TNF-α ( P <0.05).
Conclusion
There is an association between physical activity and inflammation in college students, and moderate to high intensity per week could reduce inflammation levels to promote cardiometabolic health in college students.
6.Association of different sleep characteristics and cardiometabolic risk in college students
Chinese Journal of School Health 2024;45(1):25-29
Objective:
To describe the association of different sleep characteristics and cardiometabolic risk among college students, so as to provide reference for health promotion of college students.
Methods:
By random cluster sampling method, a questionnaire survey and physical examination including blood pressure, waist circumference and blood lipid indicators, which were conducted in April and May of 2019 among a total of 1 179 college students from the first grade in two universities in Hefei City of Anhui Province and Shangrao City of Jiangxi Province. A total of 729 college students with valid questionnaires were included into analysis. The Pittsburgh Sleep Quality Index (PSQI) and Insomnia Severity Index (ISI) were used to investigate sleep behavior, and the Morning And Evening Questionnaire-5 (MEQ-5) was used to investigate sleep characteristics. The cardiometabolic risk score was derived using the sum of the standardized sex specific Z scores of waist circumference, mean arterial pressure, HDL cholesterol (multiplied by -1), triglycerides, and insulin resistance index. The rank sum tests were used to compare differences in cardiometabolic risk scores across demographic characteristics. Generalized linear models were used to compare the association of different sleep characteristics with cardiometabolic risk scores among college students.
Results:
The average cardiovascular metabolic risk score of college students was -0.32(-2.03, 1.58). There were statistically significant differences in cardiovascular metabolic risk scores among college students in variables such as smoking, health status, and physical activity levels ( t/F=-3.41, 12.88, 51.07, P <0.01). The results of the generalized linear model showed that nighttime preference ( B=1.89, 95%CI =1.02-3.49), insomnia symptoms ( B=3.25, 95%CI =1.79-5.90), and short or long sleep duration ( B=1.92, 95%CI =1.21-3.05) were positively correlated with the cardiovascular metabolic risk score of college students ( P <0.05).
Conclusions
Poor sleep patterns among college students are positively correlated with the risk of cardiovascular metabolism. The sleep behavior of college students should be actively changed to reduce the risk of cardiovascular disease.
7.Construction of evaluation index system and theory-skill-humanity model for core competence of radiation specialist nurses
Yuanyuan SONG ; Qiaofang YANG ; Tiying DING ; Ruonan HAO ; Shan BAI ; Yajuan KANG
Chinese Journal of Practical Nursing 2024;40(11):839-845
Objective:To construct of evaluation index system and theory-skill-humanity (TSH) model for core competence of radiation specialist nurses, to provide reference for clinical training of radiation specialist nurses.Methods:In January 2023, the draft of the evaluation index system of core competence for radiation specialist nurses was development by literature reviews and semi-structured interviews; from February to March 2023, 20 experts were consulted with 2 rounds of Delphi consultations to determine the index system and determine indicator weights based on the importance assigned by experts to each indicator.Results:Among 20 experts, 17 were female and 3 were male, aged 35-65 (46.48 ± 8.19) years old. The effective recovery rate of the questionnaires was 100.0% (20/20) and 95.0% (19/20) in the first and second round, respectively. The authority coefficient of the experts was 0.937 in the second round, the Kendall coefficients of concordance in the first-level indexes, second-level indexes and third-level indexes were 0.448, 0.407, 0.464, respectively, the difference was statistically significant ( χ2 = 53.60, 148.81, 58.18, all P<0.001). The final evaluation index system of the core competence of radiation specialist nurses included 3 first-level indicators, 11 second-level indicators and 56 third-level indicators. Conclusions:The evaluation index system of the core competence of radiation specialist nurses constructed based on TSH model in the present study has certain feasibility and practicality, which can be used as the basis for the training and evaluation of radiation specialized nurses.
8.Constructing a model of anterior cruciate ligament reconstruction with autologous Achilles tendon in southern Yunnan small-ear pigs
Bohan XIONG ; Yang YU ; Liling ZHENG ; Tengyun YANG ; Xiaojun LU ; Xu WANG ; Kaiwei LI ; Hong YU ; Yajuan LI ; Kaiyan DONG ; Yaozhang ZHANG ; Jinrui LIU ; Ziming GU ; Bigeng HU ; Yanlin LI
Chinese Journal of Tissue Engineering Research 2024;28(20):3157-3163
BACKGROUND:As a dominant breed pig in southwest China,the southern Yunnan small-ear pig has been widely used as an experimental animal in the basic research of other disciplines,but there are still no reports on its application in anterior cruciate ligament reconstruction. OBJECTIVE:To establish a large animal model of the southern Yunnan small-ear pig with anterior cruciate ligament with autologous Achilles tendon was established. METHODS:Twenty adult female Yunnan small-ear pigs were equally randomized into two groups.In the autologous Achilles tendon group,the right knee anterior cruciate ligament was reconstructed with autologous Achilles tendon as a graft,while in the sham-operated group,a similar operation was performed on the right knee without any treatment of the anterior cruciate ligament.General conditions of each pig were observed and recorded before and 12 months after surgery.Ligaments and grafts were taken for gross observation and MAS scoring.Hematoxylin-eosin staining was performed to observe morphological characteristics of ligaments.The staining and arrangement of type I and type Ⅲ collagen were evaluated by immunohistochemistry.Transmission electron microscopy was used to observe the type,size,diameter,ratio,and distribution of collagen fibers in ligaments. RESULTS AND CONCLUSION:All animals had normal diet and activity,good wound healing,no obvious inflammatory reaction,no local purulent infection,and no significant changes in mental and urinary conditions compared with those before surgery.The reconstructed cruciate ligament of the knee was intact,with no stiffness and normal range of motion.Both the anterior drawer and Lachman tests were negative.Gross observation of the graft:12 months after surgery,the grafts was in good position,with good integrity,obvious tension,ligament color close to the original anterior cruciate ligament,and complete surface synovial coverage.Most of the intraarticular ligaments in the autologous Achilles tendon group were defined as MAS I type and a few were defined as MAS Ⅱ type.In the sham-operated group,the intraarticular ligament was defined as MAS I type.Hematoxylin-eosin staining indicated that,12 months after surgery,collagen fibers in the autologous Achilles tendon group began to appear bundled,isotropic,and uniformly arranged,with more obvious isotropic corrugations,and the nuclei were mainly linear or spindle-shaped,which were similar to those in normal anterior cruciate ligament tissue of the sham-operated group.Immunohistochemistry results indicated that,12 months after surgery,there was a higher expression of type I collagen and significantly less expression of type Ⅲ collagen in the reconstructed anterior cruciate ligament in the autologous Achilles tendon group.The degree of type I and type Ⅲ staining was similar in the two groups.Under the transmission electron microscope,the diameter,arrangement and density of collagen fibers in the reconstructed anterior cruciate ligament of the autologous Achilles tendon group were similar to those of the original anterior cruciate ligament at 12 months after surgery,indicating that the ligament remodeling process had been basically completed in the autologous Achilles tendon group at 12 months after surgery.Through a comprehensive evaluation of animal general conditions,ligament general view,MAS score,hematoxylin-eosin staining,immunohistochemistry,and transmission electron microscopy observation,we successfully established a large animal model of anterior cruciate ligament reconstruction using autogenous Achilles tendon in southern Yunnan small-ear pigs,with good morphological,histological and ultrastructural results.
9.Isolation of Endophytic Fungi from Angelica sinensis and Evaluation of Their Secondary Metabolite Activities
Yujie ZHAO ; Nan WANG ; Ming HUANG ; Zongyuan WANG ; Yajuan DU ; Xiaoxiao ZHAO ; Yang LI ; Jiamei PEI ; Kailin CHEN ; Bei WANG ; Xinguo ZHANG
Chinese Journal of Information on Traditional Chinese Medicine 2024;31(4):139-145
Objective To isolate endophytic fungi from Angelica sinensis and evaluate the bioactivity of their secondary metabolites.Methods Angelica sinensis and rhizosphere soil were utilized as materials.The tissue homogenization method was employed with six diverse culture media to isolate endophytic fungi.The antibacterial activity of secondary metabolites was gauged using a 96-well plate assay,while UV spectrophotometry was used to evaluate the inhibitory activity of four enzymes.Results A total of 153 fungal strains were isolated and purified from Angelica sinensis roots,stems,leaves,and soil.The samples exhibited specific inhibitory activities against adenosine deaminase(ADA),β-lactamase,xanthine oxidase(XO),and tyrosinase(TYR),with rates of 45.83%,52.78%,51.39%and 55.56%,respectively.Furthermore,1.39%of the samples displayed wide-ranging inhibitory effects against four indicator bacteria.Strain 6B also showcased the lowest inhibitory concentration values of 62.5 and 7.81 μg/mL against Escherichia coli ATCC25922 and ATCC35218,respectively,signifying its potential research significance.Conclusion Angelica sinensis has abundant endophytic fungal resources and is a good source for discovering active compounds,demonstrating certain research value.
10.Association between latent classes of dietary patterns and depressive symptoms among firstgrade students from multi ethnic middle schools in Yunnan Province
XU Honglü ; , WANG Jixue, YANG Jizong, YANG Wanjuan, ZHANG Ming, FU Yun, DUAN Yajuan, CHANG Litao
Chinese Journal of School Health 2024;45(2):168-172
Objective:
To determine the latent class of dietary patterns and their association with depressive symptoms among first grade students from multi ethnic middle schools in Yunnan Province, so as to provide a reference basis for promoting mental health among border middle school students.
Methods:
A cluster random sampling involving 8 500 first grade middle school students from 11 counties in Yunnan Province was conducted by a questionnaire survey between October to December 2022. The Children s Depression Inventory (CDI) was used to assess the depressive symptoms and the Food Frequency Questionnaire was used to collect eating behavior data. The latent profile analysis model was used to fit the latent class of dietary patterns among students. The association between the dietary pattern latent class and depressive symptoms was analyzed by Logistic regression.
Results:
The depressive symptom detection rate among firstgrade middle school students was 28.3%. Prevalence of depressive symptom in girls (30.9%) was higher than boys (25.5%) with a statistically significant difference ( χ 2=29.83, P <0.01). The dietary patterns among first grade middle school students were classified into four latent classes, as follows:class 1 (low consumption of all dietary components), class 2 (high consumption of fruit, milk and dairy products), class 3 (high consumption of vegetables and meat, and low consumption of processed foods) and class 4 (low consumption of milk, dairy products and eggs, and high consumption of processed foods). After adjusting for confounding variables, the class 3 dietary pattern was negatively correlated with depressive symptoms ( OR=0.62, 95%CI =0.52-0.74) and the class 4 dietary pattern was positively correlated with depressive symptoms ( OR= 1.28 , 95%CI =1.05-1.57) ( P <0.05), compared with the class 1 dietary pattern.
Conclusions
Multi ethnic first grade middle school students in Yunnan Province follow various dietary patterns. Unhealthy dietary patterns increase the risk of depressive symptoms. The dietary patterns of multi ethnic middle school students in Yunnan Province should be adjusted to promote the establishment of healthy dietary patterns and reduce the risk of depression symptoms in middle school students.


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