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.Research on the Difficulties and Strategies of Operating Room Cost Management in Public Hospitals from the Perspective of Value Chain
Hongmei LIANG ; Shaochun YANG ; Yajuan LIU
Chinese Hospital Management 2024;44(6):61-64
Driven by the two-wheel wheels of high-quality development of public hospitals and DRG/DIP payment reform,the operation mode of hospitals urgently needs to shift to the intensive mode of"cost reduction and efficiency increase".As the hub of hospital business operation and an important center of resource integration,the lean management of operating room affects the realization of high-quality development goals of"three transformations and three improvements".Based on the perspective of value chain,it discusses the difficult problems of operating room cost management in public hospitals from three aspects:operation cost motivation,execution cost motivation and structural cost motivation.Then,it puts forward corresponding management strategies to promote lean management of operating room,and help public hospitals to strengthen cost control and improve operational efficiency.
7.New Ideas for Lean Management System Construction in Public Hospitals under the Connotation Framework of New Quality Productive Forces
Xiong SONG ; Yajuan LIU ; Hongmei LIANG ; Shaochun YANG
Chinese Hospital Management 2024;44(10):55-57
New quality productive forces are advanced productive forces in line with the new development concept,with the characteristics of high technology,high efficiency and high quality.It has a guiding role in realizing the high-quality and sustainable development of public hospitals.Starting from the basic connotation of the new quality productivity,it studies the core elements and implementation paths of establishing a lean management system that meets the requirements of high-quality development of public hospitals from the perspective of the leap in the combination of labourers,labour materials,labour objects and their optimisation.Combined with the actual situation of Xinhua Hospital Affiliated To Shanghai Jiao Tong University School of Medicine,the specific application path is discussed,in order to be able to achieve the transformation and upgrading of public hospitals to provide experience to learn from.
8.Research on the Difficulties and Strategies of Operating Room Cost Management in Public Hospitals from the Perspective of Value Chain
Hongmei LIANG ; Shaochun YANG ; Yajuan LIU
Chinese Hospital Management 2024;44(6):61-64
Driven by the two-wheel wheels of high-quality development of public hospitals and DRG/DIP payment reform,the operation mode of hospitals urgently needs to shift to the intensive mode of"cost reduction and efficiency increase".As the hub of hospital business operation and an important center of resource integration,the lean management of operating room affects the realization of high-quality development goals of"three transformations and three improvements".Based on the perspective of value chain,it discusses the difficult problems of operating room cost management in public hospitals from three aspects:operation cost motivation,execution cost motivation and structural cost motivation.Then,it puts forward corresponding management strategies to promote lean management of operating room,and help public hospitals to strengthen cost control and improve operational efficiency.
9.New Ideas for Lean Management System Construction in Public Hospitals under the Connotation Framework of New Quality Productive Forces
Xiong SONG ; Yajuan LIU ; Hongmei LIANG ; Shaochun YANG
Chinese Hospital Management 2024;44(10):55-57
New quality productive forces are advanced productive forces in line with the new development concept,with the characteristics of high technology,high efficiency and high quality.It has a guiding role in realizing the high-quality and sustainable development of public hospitals.Starting from the basic connotation of the new quality productivity,it studies the core elements and implementation paths of establishing a lean management system that meets the requirements of high-quality development of public hospitals from the perspective of the leap in the combination of labourers,labour materials,labour objects and their optimisation.Combined with the actual situation of Xinhua Hospital Affiliated To Shanghai Jiao Tong University School of Medicine,the specific application path is discussed,in order to be able to achieve the transformation and upgrading of public hospitals to provide experience to learn from.
10.Research on the Difficulties and Strategies of Operating Room Cost Management in Public Hospitals from the Perspective of Value Chain
Hongmei LIANG ; Shaochun YANG ; Yajuan LIU
Chinese Hospital Management 2024;44(6):61-64
Driven by the two-wheel wheels of high-quality development of public hospitals and DRG/DIP payment reform,the operation mode of hospitals urgently needs to shift to the intensive mode of"cost reduction and efficiency increase".As the hub of hospital business operation and an important center of resource integration,the lean management of operating room affects the realization of high-quality development goals of"three transformations and three improvements".Based on the perspective of value chain,it discusses the difficult problems of operating room cost management in public hospitals from three aspects:operation cost motivation,execution cost motivation and structural cost motivation.Then,it puts forward corresponding management strategies to promote lean management of operating room,and help public hospitals to strengthen cost control and improve operational efficiency.


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