Objective: To understand the prevalence of myopia among primary and secondary school students in minority areas of Yunnan Province, and to explore the influence of outdoor activities and short-distance use of eyes, so as to provide a basis for early myopia intervention. Methods: In October 2020, the survey was conducted among 1 782 primary and secondary school students in three cities of Yunnan through a multi stage random cluster sampling method. All subjects underwent a questionnaire survey and the visual acuity examination at baseline. The first follow-up was conducted in October 2021 to obtain 1 691 valid samples, and the second follow-up was conducted in May 2023 to obtain 1 367 valid samples. Factors associated with myopia among primary and secondary school students were explored by using generalized estimating equations. Results: The prevalence rates of myopia in 2020, 2021 and 2023 were 52.64%, 61.62% and 69.35%, respectively, showing an increasing trend ( χ 2 trend =91.77, P <0.05). The results of multivariate regression analysis on the generalized estimation equations showed that age at baseline ( OR =1.31), girls ( OR =1.76), Hani ethnicity ( OR =0.75), Bai ethnicity ( OR =0.69), parental myopia ( OR =1.97-2.29), parents often reducing children s exercise time for homework or tutoring ( OR =1.35), less than 1 time or 2-3 times of ball sports per week ( OR =1.27, 1.20 ), reading and writing in the classroom during the break ( OR =1.27), reading in direct sunlight occasionally ( OR =1.20), using only desk lamp for writing at home ( OR =0.71), more than 1 hours of short-distance eye use for a break once ( OR =1.23) were associated with myopia among primary and secondary school students ( P <0.05). Conclusions Outdoor activities and short-distance use of eye among primary and middle school students in minority areas in Yunnan province are suboptimal. Enhancing the related environmental and behavioral factors can effectively mitigate the occurrence and progression of myopia.

Objective: To explore the pattern of change of axial length/curvatrue radius ratio (AL/CR) and associated factors in primary and secondary school students in Yunnan, so as to provide scientific basis and prospective guidance for early myopia intervention and control. Methods: A total of 685 students from grades 2 to 3 and grade 7 in 2 cities/counties in Yunnan Province were selected by multi stage stratified random cluster sampling method in 2020. All the participants were followed up twice with questionnaire of myopia related factors, uncorrected distance visual acuity, and refractive parameter measurement from October,2021 and March,2023,respectivelty. The distribution and change of AL/CR in different classes and groups were analyzed, and the influencing factos of AL/CR cumulative progression were explored using generalized linear model. Results: AL/CR ratio in primary school students was (2.95±0.09) at baseline, increased to (2.99±0.11) at the first follow up and (3.04±0.12) at the second follow up. AL/CR ratio in middle school students(3.08±0.13) at baseline, increased to (3.12±0.15) at the first follow up and (3.15±0.14) at the second follow up. The generalized linear model showed that after controlling for environmental factors, ethnicity ( β =-0.017) , cumulative progression of the SE ( β =-0.027) influenced the changes of AL/CR ratio among the primary school students, whereas the changes of AL/CR ratio were associated with baseline AL ( β =-0.005), baseline corneal curvatrue radius ( β =0.032) and cumulative progression of SE( β =-0.035) among middle school students ( P <0.05). Conclusions The AL/CR ratio of primary and secondary school students in Yunnan can be used to judge different refractive status types, but its variation is not only related to SE progression, but also affected by different ethnic groups and baseline ocular biological parameters. so the value of AL/CR application in assessing the progression of myopia needs to be further confirmed.

OBJECTIVE To study the correlation between penetration enhancement effect and transepidermal water loss(TEWL)values of essential oils(EOs)from traditional Chinese medicine(TCM).METHODS The amount of 3 kinds of glycosides(geniposide,gentiopicroside,paeoniflorin)and their oil-water partition coefficient were determined by HPLC.The penetration enhancement effect of the five EOs from Gaoliangjiang(Alpiniae Officinarum Rhizoma,AOR),Ganjiang(Zingiberis Rhizoma,ZR),Bohe(Menthae Haploca-lycis Herba,MHH),Hujiao(Piperis Fructus,PF)and Wuzhuyu(Euodiae Fructus,EF)on geniposide,gentiopicroside,and paeoniflor-in were performed by the modified Franz diffusion cell method with the abdominal skin of rats.The TEWL values were measured to evalu-ate the effect of the five EOs on the skin barrier function of rats.The correlation between penetration enhancement effect of EOs and their effect on skin barrier function was investigated by correlation analysis.RESULTS AOR oil,ZR oil,MHH oil,and PF oil could im-prove the absorption of the three glycosides and reduce skin barrier function of rats.The results of correlation analysis showed that the penetration enhancement effect of EOs was significantly related to TEWL values following dermal administration of EOs.CONCLUSION TEWL measurement technology provides a more convenient method for the selection of penetration enhancers.

Objective: To explore the related factors of myopia among children and adolescents in Yunnan Province, and to predict and evaluate the influencing factors, so as to provide a scientific theoretical basis for the prevention and control of myopia. Methods: From March 9 to 14, 2023, 848 students from 6 primary and secondary schools in Dali and Lijiang of Yunnan Province were selected by multi stage stratified random cluster sampling method for visual acuity detection and questionnaire survey on myopia related factors. Multivariate Logistic regression analysis was used to establish a Nomogram prediction model for the selected influencing factors. Results: The overall myopia rate of the respondents was 68.3%, the myopia rate of boys (63.4%) was lower than that of girls (72.9%), and the myopia rate of primary school students (46.7%) was lower than that of junior high school students (81.1%), and the difference was statistically significant（ χ 2=8.71, 108.07, P <0.05). Daily eye exercises, activities outside the teaching building during recess, having daily sleep time of 7-9 and >9 h, having both parents without myopia were negatively correlated with the occurrence of myopia in children and adolescents in Yunnan Province ( OR=0.64, 0.63, 0.56, 0.28, 0.48, P < 0.05 ). The reading and writing time after school ≥3 h per day and parents unrestricted time to play video games were positively correlated with myopia ( OR=1.94, 1.78, P <0.05). Based on the influencing factors, a Nomogram prediction model was established to quantitatively evaluate the risk of myopia. The results showed that greater risk for myopia was associated with sleep duration, parental history of myopia, and the time spent reading and writing after school every day. Conclusion Both genetic factors and environmental factors are related to myopia in children and adolescents. The prediction model of nomogram is beneficial for screening high risk factors of myopia and taking corresponding prevention and treatment measures.

Objective:To report the clinical manifestation and genetic characteristics of a case of de novo Huntington′s disease due to paternal intermediate alleles. Methods:Clinical data and imaging features of a middle-aged female, who complained of unstable walking without positive family history and was admitted to Xuanwu Hospital, Capital Medical University on September 20, 2022, were retrospectively analyzed. The serum samples of the patient and her parents were used to screen HTT gene dynamic mutation in accordance with the principle of informed consent and voluntary. And the relevant literatures were reviewed. Results:This is a 38-year-old female with progressive course, who presented as ataxia, involuntary movement at the end of extremities, dystonia, and cognitive impairment. Imaging results showed atrophy of bilateral caudate nuclei, as well as decreased glucose metabolism of bilateral caudate nuclei, putamen and partial cortex. Genetic testing showed the abnormal expansion of polymorphic trinucleotide (CAG) repeats in HTT gene and confirmed the diagnosis of Huntington′s disease. The CAG repeat length of the patient was 17/47 (pathopoiesis), of the father was 17/35 (intermediate alleles), and of the mother was 17/17 (normal). Conclusions:Paternal intermediate alleles may cause the first case of Huntington′s disease in a family. Importantly, HTT gene screening should be performed for the patient and parents when the diagnosis of Huntington′s disease is clinically possible despite negative family history, to prevent the misdiagnosis.

Clouston syndrome (OMIM #129500), also known as hidrotic ectodermal dysplasia type 2, is a rare autosomal dominant skin disorder. To date, four mutations in the GJB6 gene, G11R, V37E, A88V, and D50N, have been confirmed to cause this condition. In previous studies, the focus has been mainly on gene sequencing, and there has been a lack of research on clinical manifestations and pathogenesis. To confirm the diagnosis of this pedigree at the molecular level and summarize and analyse the clinical phenotype of patients and to provide a basis for further study of the pathogenesis of the disease, we performed whole-exome and Sanger sequencing on a large Chinese Clouston syndrome pedigree. Detailed clinical examination included histopathology, hair microscopy, and scanning electron microscopy. We found a novel heterozygous missense variant (c.134G>C:p.G45A) for Clouston syndrome. We identified a new clinical phenotype involving all nail needling pain in all patients and found a special honeycomb hole structure in the patients' hair under scanning electron microscopy. Our data reveal that a novel variant (c.134G>C:p.G45A) plays a likely pathogenic role in this pedigree and highlight that genetic testing is necessary for the diagnosis of Clouston syndrome.
Humans ; Connexin 30/genetics* ; Connexins/genetics* ; East Asian People ; Ectodermal Dysplasia/pathology* ; Phenotype

Objective To investigate the status quo of health literacy,motivation and self-management behaviours of patients with knee osteoarthritis(KOA),to explore the influence of health literacy and motivation on self-management behaviours to the patients with KOA,and to clarify the relationships among the three factors.Methods Convenience sampling method was used to select 169 KOA patients who were treated in 3 tertiary hospitals in Xianyang between September and December 2021.General status table,chronic disease health literacy scale,patient motivation scale and chronic disease self-management behaviour scale were employed in the on-the-spot survey.Pearson correlation was used to analyze the correlation of health literacy,motivation and self-management behaviour of patients with KOA.Results Total scores of health literacy,motivation and self-management behaviour of the patients with KOA were 79.66±11.91,54.97±9.95 and 23.75±8.89,respectively.It was found that health literacy and motivation of the patients were positively correlated with their self-management behaviour(r=0.872,r=0.822,both P<0.01).Health literacy of the patients was positively correlated with motivation of patients(r=0.877,P<0.01).Health literacy of the patients could be used to directly predict self-management behaviour of patients(β=0.708,95%CI:0.539-0.876),as well as to predict self-management behaviour of the patients through the mediating effect of patient motivation(β=0.228,95%CI:0.676-0.787).The mediating effect accounted for 24.36%of the total effect.Conclusions The health literacy,motivation and self-management behaviours of patients with KOA are all poor and they should be further improved.Patient motivation is the mediating variable in health literacy and self-management behaviour of the patients.It is suggested that nursing staff could encourage the motivation of patients hence to improve the self-management behaviour in the patients with KOA based on an improvement of health literacy.

Abstract OBJECTIVE To study the mechanism of NLRP3 gene’s regulation on inflammatory response in non-alcoholic fatty liver disease(NAFLD) mice induced by high-fat and high-fructose diet using NLRP3 gene knockout mice. METHODS Use male homozygous(NLRP3-/-) mice, and the high-fat and high-fructose diet was used to establish NAFLD model in NLRP3 knockout(KO) mice and wild-type(WT) mice, divided into KO high-fat and high-fructose diet(KO-HFD) group and WT high-fat and high-fructose diet(WT-HFD) group, while the WT and KO groups were also established. The body weight of mice in each group were observed. The changes of ALT, AST, TG, TC, MDA, SOD, lipidosis, apoptosis rate, IL-1β, IL-18, TNF-α, NF-κB, NLRP3, Caspase-1 and ASC in serum and tissue samples were tested to study the mechanism of the NLRP3 gene regulating the inflammatory response in NAFLD mice. RESULTS As time goes on, the mice weight of each group increased gradually, but the KO-HFD group increased less than the WT-HFD group. Each group’s level of ALT, AST, TG, TC in serum increased gradually, but the KO-HFD group increased less than the WT-HFD group. The level of MDA in liver tissues of each group was gradually increased and the level of SOD was gradually decreased, but the change range of KO-HFD group was smaller than that of WT-HFD group. The results of oil red O staining and Tunel section showed that the degree of lipid deposition and apoptosis in hepatocytes increased gradually in all groups, but the changes in KO-HFD group were less than that in WT-HFD group. The levels of serum and liver inflammatory factors IL-1β, IL-18, TNF-α and NF-κB increased in all groups, but the changes of KO-HFD group 20 weeks were less than those of WT-HFD group 20 weeks, and the difference was statistically significant. The expression levels of NLRP3 inflammasomes and related inflammatory cytokines NLRP3, Caspase-1, ASC, IL-1β and IL-18 in liver tissues of WT-HFD group were higher than those of KO-HFD group. The mRNA transcription levels of NLRP3, ASC, Caspase-1, IL-1β and IL-18 in WT-HFD group were gradually increased, while there was no change in KO-HFD group. CONCLUSION The NLRP3 gene may be activated in NAFLD mice model, resulting in increased expression of NLRP3 inflammasome-associated protein, promoting the synthesis and secretion of downstream inflammatory factors, resulting in significant inflammatory response and liver damage, and promoting the progression of NAFLD disease.

Objective:To explore the efficacy of a flat ground exoskeleton robot in improving the walking ability of stroke survivors.Methods:Fifty-eight stroke survivors with mobility difficulties were randomly divided into a robot group ( n=29) and a control group ( n=29). In addition to routine rehabilitation, the control group received conventional walking training, while the robot group underwent exoskeleton robot-assisted gait training. The 30-minute training sessions were held twice a day, 5 days per week for 5 weeks. Before as well as after 2 and 4 weeks of treatment, everyone′s walking ability was tested using the 6-minute walk test (6MWT) and functional ambulation scale (FAC). General lower limb motor function was quantified using the Fugl-Meyer Lower Extremity assessment (FMA-LE). Moreover, gait analysis was conducted before and after 4 weeks of treatment. Results:After 2 and 4 weeks of treatment, the average 6MWT times of both groups were significantly better than before the treatment, with the improvement of the robot group significantly greater than that of the control group after 2 weeks. After 2 and 4 weeks the average FMA-LE and FAC scores of both groups had improved significantly compared with before treatment. After 4 weeks the stride frequency and gait cycle of both groups had improved significantly.Conclusions:Exoskeleton robot-assisted gait training can improve walking ability and lower limb motor function of stroke survivors about as well as conventional walking training.

Objective:To explore the clinical efficacy of dual-kidney transplantation from infant donors to adult recipients.Methods:From December 2012 to November 2020 in Organ Transplant Center First Affiliated Hospital Sun Yat-sen University, rertrospective reviews were conducted for clinical data of 25 pairs of infant donors and adult recipients. The survival rates were calculated for both recipients and transplanted kidneys at Year 1/3/5 post-transplantation. And the postoperative recovery status and the postoperative incidence of adverse events of recipients were observed.Results:The survival rates of recipients were all 95.8% at Year 1/3/5 and those of transplanted kidney and dealth-cancelling transplanted kidney all 87.2%. One case died due to acute inferior-wall cardiac infarction while three others lost renal functions for vascular thrombosis, ureteral stenosis and urinary fistula. Except for loss of renal function and death, the postoperative estimated golmerular fitration rate was (99.35±21.78), (103.11±29.20) and (114.99±28.55) ml/(min·1.73 m 2) at Year 1/2/3 respectively. Conclusions:Selecting proper recipients, standardizing donor acquisition and surgical procedures and strengthening perioperative managements may expand the donor pool. The overall outcomes are excellent for adult recipients with dual-kidney transplantation from donations after infants' death.