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.

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.

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).

Objective To analyze the status quo of cognitive frailty (CF) in community elderly patients with chronic obstructive pulmonary disease (COPD) and its correlation with sleep quality, anxiety and depression. Methods Elderly patients with COPD receiving health management in the center were selected from July 2023 to June 2024. The general data of patients were collected and Mini-Mental State Examination (MMSE), Fried Frailty Phenotype (FP), Pittsburgh Sleep Quality Index (PSQI) and Hospital Anxiety and Depression Scale (HADS) were used for investigation, and the above scores were analyzed. All patients were divided into CF group (n=129) and non-CF group (n=319) according to MMSE score and FP score. Univariate and multivariate logistic analyses were used to analyze the influencing factors of CF in elderly COPD patients. Results Pearson correlation analysis showed that MMSE score was significantly negatively correlated with PSQI score and HADS score in elderly COPD patients (P<0.05), and FP score was significantly positively correlated with PSQI score and HADS score (P<0.05). After logistic regression analysis, it was found that education level, marital status and sleep time were protective factors of CF in elderly COPD patients (P<0.05), and PSQI score and HADS score were risk factors of CF in elderly patients with COPD (P<0.05). Conclusion CF in community elderly COPD patients is related to sleep quality, sleep duration and anxiety and depression. It is necessary to take clinical measures to improve the sleep quality and psychological status, so as to avoid or slow down the occurrence of CF.

Objective To explore the efficacy of the self-formulated Zhuzhang Formula in trea-ting the spleen deficiency with dysfunction of transportation syndrome of idiopathic short stature(ISS)and its effects on the growth rate,disease-related indicators,and bone metabolism indicators in affect-ed children.Methods A total of 80 children with ISS were enrolled as study subjects.They were randomly assigned to control group and observation group using random number table method,with 40 cases in each group.The control group received conventional western medicine treatment,while the observation group was administered self-formulated Zhuzhang Formula in addition to the treatment of the control group.Comparisons were made between the two groups in terms of clinical efficacy,TCM syndrome scores,growth parameters(monthly average height increment,annual growth rate),levels of disease-related indicators[serum insulin-like growth factor-1(IGF-1),bone morphogenetic pro-tein-2(BMP-2),insulin-like growth factor binding protein-3(IGFBP-3)],levels of bone metabo-lism indicators[bone alkaline phosphatase(BAP),type Ⅰ procollagen N-terminal propeptide(PⅠNP),type Ⅰ collagen cross-linked C-terminal telopeptide(β-CTX)],and the incidence of adverse reac-tions.Results The overall effective rate in the observation group was 97.50％,which was significantly higher than the 80.00％ in the control group(P＜0.05).After 3 and 6 months of intervention,the scores for symptoms such as short stature,sallow complexion,loss of appetite,weak voice and shortness of breath,limb weakness,and loose stools,as well as the total TCM syndrome scores,were lower in the observation group than those in the control group,with statistically significant differences(P＜0.05).After 6 months of intervention,the monthly average height increment and annual growth rate were higher in the observation group than those in the control group,and the differences were statistically significant(P＜0.05).After 3 and 6 months of intervention,the levels of IGF-1,BMP-2,IGFBP-3,BAP,and PⅠNP were higher in the observation group than those in the control group,while the level of β-CTX was lower,and the differences were statistically significant(P＜0.05).There was no statistically significant difference in the incidence of adverse reactions between the two groups(P＞0.05).Conclusion The self-formulated Zhuchang Formula demon-strates remarkable efficacy in treating the spleen deficiency with dysfunction of transportation syndrome of ISS.It can alleviate clinical symptoms by regulating the levels of IGF-1,BMP-2,IGFBP-3,and bone metabolism indicators,thereby promoting the growth and development of affected children,and exhibits high safety.

Objective To analyze the impact of medical guidance games combined with special-ized nursing on treatment compliance and clinical symptoms in preschool children with pneumonia.Methods A total of 113 preschool children with pneumonia admitted to Beijing Daxing District Peo-ple's Hospital from February 2023 to June 2024 were selected as research subjects and randomly di-vided into control group(n=56)and observation group(n=57).The control group received routine nursing,while the observation group received medical guidance games combined with specialized nursing on the basis of the control group.Treatment compliance,improvement time of clinical symp-toms,and psychological states were compared between the two groups.Results The total treatment compliance rate in the observation group was 98.2％,which was higher than 89.3％in the control group,and the difference was statistically significant(P＜0.05).The disappearance times of symp-toms such as cough,expectoration,dyspnea,and fever in the observation group were all shorter than those in the control group(P＜0.05).After intervention,the scores of the Children's Medical Fear Scale(CMFS)and the Screen for Child Anxiety Related Emotional Disorders(SCARED)in the ob-servation group were both lower than those in the control group(P＜0.05).Conclusion Medical guidance games combined with specialized nursing can improve treatment compliance in preschool children with pneumonia,shorten their recovery time,help alleviate negative emotions such as medi-cal fear and anxiety,and promote disease recovery.

Objective:This study aims to determine the risk perception, evacuation decision-making, and influencing factors related to typhoon disasters among public.Methods:A cross-sectional study will be conducted in residents of Hainan from September 2024 to January 2025. The study will employ chi-square tests, t-tests, and binary logistic regression analysis to examine factors influencing evacuation behavior decisions. Furthermore, structural equation modeling based on ordered choice model will be constructed to validate the mechanisms through which risk perception affects evacuation decision-making processes.Results:Among 517 respondents from 11 administrative districts (counties) in Hainan Province, 62.09% of the residents were willing to evacuate. The decision of public evacuation behavior was significantly related to disaster knowledge, official trust, risk perception, source of warning information and some demographic characteristics. Structural equation modeling demonstrated that warning information sources positively correlated with disaster knowledge and official trust (path coefficients: 0.363, 0.315, both P < 0.001). Both disaster knowledge and official trust showed positive correlations with risk perception (path coefficients: 0.157, 0.165, both P < 0.001), while risk perception positively influenced evacuation decisions (path coefficient: 0.137, P = 0.003). Moreover, source of warning information, disaster knowledge and official trust further positively affect evacuation behavior decision through risk perception, a key mediating variable. Conclusions:Disaster knowledge, official trust, risk perception and other factors can directly or indirectly affect the evacuation behavior of the public following the typhoon disaster. In typhoon-prone areas, it is recommended to enhance public risk perception through strategies such as authoritative training, diversified early warning channels, and improving government credibility, thereby promoting disaster preparedness and evacuation behaviors.

Background Long-term exposure to ambient fine particulate matter (PM_2.5) may increase the risk of diabetes, and a healthy diet can effectively control fasting blood glucose levels. However, it is unclear whether dietary factors have a moderating effect on the risk of diabetes associated with atmospheric PM_2.5 exposure. Objective To investigate the association between long-term exposure to PM_2.5 and diabetes in rural areas of Ningxia, and potential interaction of long-term exposure to atmospheric PM_2.5 and diet on diabetes. Methods The study subjects were selected from the baseline survey data of the China Northwest Cohort-Ningxia (CNC-NX) , a natural population cohort. A total of 13917 subjects were included, excluding participants with missing covariate information. We utilized the annual average ambient PM_2.5 concentration from 2014 to 2018 as the long-term exposure level. Logistic regression and multiple linear regression were employed to analyze the associations of long-term atmospheric PM_2.5 exposure with diabetes and fasting blood glucose levels. Stratification by frequency of vegetable consumption, frequency of fruit consumption, and salty taste was used to examine moderating effects on the diabetes risk associated with atmospheric PM_2.5 exposure. Results The mean age of the 13917 subjects was (56.8±10.0) years, and the prevalence of diabetes was 9.8%. Between 2014 and 2018, the average annual concentration of PM_2.5 was (38.10±4.67) μg·m⁻³. The risk (OR) of diabetes was 1.018 (95%CI: 1.005, 1.032) and the fasting blood glucose was increased by 0.011 (95%CI: 0.004, 0.017) mmol·L⁻¹ for each 1 μg·m⁻³ increase in PM_2.5 concentration. Compared to those who consumed vegetables < 1 time per week, individuals who consume vegetables 1-3 times per week and ≥4 times per week had a reduced risk of developing diabetes by 27.1% (OR=0.729, 95%CI: 0.594, 0.893) and 16.8% (OR=0.832, 95%CI: 0.715, 0.971) respectively. Similarly, when compared to those who consumed fruits <1 time per week, individuals who consumed fruits 1-3 times per week and ≥4 times per week exhibited a reduced risk of diabetes by 16.4% (OR=0.836, 95%CI: 0.702, 0.998) and 18.2% (OR=0.818, 95%CI: 0.700, 0.959) respectively. Fasting blood glucose decreased by 0.202 (95%CI: -0.304, -0.101) mmol·L⁻¹ in participants who ate vegetables 1-3 times per week. The effect of salty taste on diabetes and fasting blood glucose was not significant. The results of stratified analysis by dietary factors and PM_2.5 concentration showed that the risks of diabetes were increased in the low PM_2.5 pollution-low vegetable intake frequency group and the high PM_2.5 pollution-low vegetable intake frequency group compared with the low PM_2.5 pollution-high vegetable intake frequency group, with OR values of 3.987 (95%CI: 2.943, 5.371) and 1.433 (95%CI: 1.143, 1.796) respectively. The risk of diabetes was 50.1% higher in participants with high PM_2.5 pollution and low fruit intake frequency than in participants with low PM_2.5 pollution and high fruit intake frequency (OR=1.501, 95%CI: 1.171, 1.926). No interaction was found between salty taste and PM_2.5 on diabetes. Conclusion Long-term exposure to ambient PM_2.5 is associated with an increased fasting blood glucose and an elevated risk of diabetes in rural Ningxia population. Increasing the frequency of weekly consumption of vegetables or fruits may have a certain protective effect against diabetes occurrence, as well as a moderating effect on diabetes and fasting blood glucose levels associated with long-term exposure to atmospheric PM_2.5.

Objective To investigate the risk factors of drug resistance in patients with ischemic stroke by clopidogrel therapy and provide references for promoting clinical individualized drug therapy. Methods A total of 202 inpatients diagnosed with ischemic stroke were admitted and given dual anti-treatment (aspirin+clopidogrel). CYP2C19 genotype was detected by microarray hybridization during hospitalization, and CYP2C19 gene polymorphisms were classified into fast metabolism group, medium metabolism group and slow metabolism group according to the type of drug metabolism. Patients were tested for platelet inhibition induced by adenosine diphosphate (ADP) according to thromboelastographic (TEG) on 7~14 d of drug administration. ADP <30% was classified as clopidogrel drug resistance group and ADP ≥30% as non-resistance group. Logistic regression analysis was used to study the risk factors for the development of clopidogrel resistance. Results Among 202 patients with ischemic stroke, 87 were in the resistant group and 115 in the non-resistant group. The proportion of patients with clopidogrel resistance combined with diabetes and the level of white blood cell count were higher than that in the non-resistant group, and the differences were statistically significant (P<0.05).The proportion of patients with clopidogrel resistance in the CYP2C19 intermediate metabolism group was significantly higher than that in the fast metabolism group, and the rate of platelet inhibition was also significantly lower than that in the fast metabolism group, all with statistically significant differences (P<0.05). Conclusion Combined diabetes mellitus, high white blood cell count levels and CYP2C19 mid-metabolic phenotype are independent risk factors for the development of clopidogrel resistance in patients with ischemic stroke.

Objective:To develop and evaluate the efficacy and safety of a three-dimensional (3D) digestive endoscope for gastric endoscopic submucosal dissection (ESD) through animal experiments.Methods:Two Dutch pigs were utilized from the Zhengzhou University Animal Experiment Center for the study. ESD procedures were performed by two senior endoscopists, one using 3D glasses and the other utilizing a 3D high-definition head display. The success of ESD was assessed based on predefined criteria, including completion of surgical steps, complete detachment of the presumptive lesion, and effective bleeding control during and after the surgery. The number of successful procedures and incidences of perforation were recorded. The stereoscopic experience of the endoscopists, including both the primary endoscopist and the assistant, was also evaluated. Furthermore, the assessment encompassed any reported symptoms of eye discomfort, such as eye fatigue, ocular pain, and blurred vision. Additionally, the confidence level of the endoscopists in the mechanical aspects of the operation, as well as encountered issues during the endoscopic procedures, were documented.Results:Two ESD were successful and no perforation occurred. Feedback from endoscopists suggested that 3D digestive endoscopy offered clear images with enhanced three-dimensionality during surgery, clear sense of distance and layering, allowing for a precise judgment of bleeding points, which surpassed 2D capabilities. No eye discomfort was experienced by endoscopists or assistants during or after the procedures. While endoscopists exhibited high confidence in 3D digestive endoscopy, they noted issues with image blurring when the camera was positioned less than 10 mm from the gastrointestinal tract wall.Conclusion:Preliminary results show that 3D digestive endoscopes can provide excellent stereo imaging, improved positioning accuracy, and safety during live animal stomach ESD procedures, without significantly increasing endoscopists' eye discomfort. Nevertheless, efforts are needed to address image blurring concerns when the camera is close to the gastrointestinal tract wall.