Objective:To identify the pathogenic gene mutations in a family with early onset severe retinal dystrophy (EOSRD).Methods:A retrospective clinical study. One patient and three family members from a Han of EOSRD who were diagnosed at Henan Eye Hospital in August 2018 were included in the study. After the detailed history of the patients was collected, all participants underwent best corrected visual acuity (BCVA), slit-lamp, fundus biomicroscopy with the slit lamp, untra-widefield fundus color photography, spectral-domain optical coherence tomography (SD-OCT) and full-field electroretinography (ff-ERG). The subject’s peripheral venous blood of 5 ml was collected and the whole genome DNA was extracted. A genetic eye disease capture chip containing 441 disease-causing genes was used for targeted capture and enrichment of high-throughput sequencing, and Sanger sequencing was performed for the clear pathogenic mutation sites; the analysis software was used for bioinformatics analysis of the mutation sites.Results:A 6-year-old female proband developed poor night vision in both eyes after 1 year old. The BCVA of both eyes were 0.1. The color of the optic disc was slightly lighter; the diameter of the retinal vessels was slightly reduced, and extensive pigment changes can be seen in the retina outside the vascular arch. SD-OCT examination showed that the outer membrane, ellipsoid zone and chimera zone in the central fovea of both eyes were unclear and intermittent. The visual area outside the fovea was neuroepithelial outer plexiform layer, outer nuclear layer, outer membrane, ellipsoid zone. The chimera zone gradually disappeared, and the thickness of the pigment epithelial layer was not uniform. In ff-ERG examination, the functions of the binocular cone and rod system were severely decreased. The results of genetic testing showed that there were c.921C>A homozygous mutations in the Tubby-like protein (TULP1) gene of the proband, and c.3121C>T and c.3488G>A compound heterozygous mutations in the cyclic nucleotide gated channel beta 1 (CNGB1) gene. Amino acid conservation analysis results showed that the above three mutation sites were highly conserved in multiple species; bioinformatics analysis results showed that TULP1 gene c.921C>A (p.Cys307*) had translation termination in the protein conserved region, CNGB1 gene c.3121C>T (p.Arg1041Trp) and c.3488G>A (p.Gly1163Glu) had amino acid polarity changes in the protein conserved region, which led to major changes in the protein spatial structure.Conclusion:TULP1 gene c.921C>A homozygous mutation, CNGB1 gene c.3121C>T and c.3488G>A compound heterozygous mutation are the mutation sites of this EOSRD family.

Objective: To understand the prevalence and influencing factors of dyslipidemia in the residents aged 40 years and over in the rural areas of Liaoning Province,so as to provide basis for the development of targeted prevention and control measures. Methods: From September 2017 to May 2018,by stratified cluster random sampling method,the residents aged 40 years or above from 19 villages in Liaoning Province were selected. Demographic features,height,weight,blood pressure and lipid level were collected. A logistic regression model was applied to explore the influencing factors for dyslipidemia. Results: A total of 10 926 residents were recruited,with an average age of （59.97±10.08）years. The crude and standardized prevalence rate of dyslipidemia was 30.96% and 29.68%. The results of multivariate logistic regression analysis showed that women（OR=1.323,95%CI：1.189-1.473）,50-69 years old（OR：1.238-1.333,95%CI：1.075-1.523）,a high school education or below（OR：0.585-0.635,95%CI：0.439-0.842）,hypertension（OR=1.398,95%CI：1.273-1.534）,diabetes（OR=2.137,95%CI：1.918-2.381）,overweight or obesity（OR=2.101,95%CI：1.916-2.303）, meat-based meals（OR=1.306,95%CI：1.144-1.492）and vegetables intake less than 5 days a week（OR：1.169-1.387,95%CI：1.004-1.796） were associated with dyslipidemiais. Conclusions The prevalence rate of dyslipidemia was 30.96% in the rural residents aged 40 years and over in Liaoning Province. People who were females,who were 50-69 years old,and who suffered from hypertension,diabetes,overweight or obese,might take their lipid levels into consideration.

Objective:To investigate the comorbidity status of hypertension, diabetes, and dyslipidemia (the"three diseases") among residents aged≥40 in Liaoning Province, and to explore the correlation between the comorbidity and cardiovascular disease mortality.Methods:This investigation was a prospective cohort study. From February 2017 to March 2019, a multi-stage stratified cluster random sampling method was used to carry out a baseline survey of 18 758 permanent residents aged≥40 years in Liaoning Province. Demographic information and history of hypertension, diabetes, and dyslipidemia were collected and followed up every year. Death was mainly identified by linkage to the Population Death Information Registration Management System. Cox proportional hazard regression model was used to analyze the association between the comorbidity of the "three diseases" and cardiovascular disease mortality risk.Results:A total of 18 758 residents aged≥40 in Liaoning Province were included, with an age of (60.3±9.9) years and 7 325 males (39.1%). The comorbidity rate of hypertension, diabetes, and dyslipidemia was 6.7% (1 256/18 758), and the standardized prevalence rate was 5.4%. The comorbidity rate increased with age (P<0.001), which was higher in women than in men, and more significant in urban areas than in rural areas (all P<0.001). The comorbidity of "three diseases" accounted for 39.3% (1 256/3 198), 18.7% (1 256/6 710), and 11.8% (1 256/10 653) in patients with diabetes, dyslipidemia, and hypertension, respectively. With a follow-up of (4.3±0.6) years, 463 people died of cardiovascular disease. The mortality rate of cardiovascular disease in the comorbidity of hypertension, diabetes, and dyslipidemia was 8.74/1 000 person-years. After adjusting potential confounders, Cox proportional hazard regression model analysis showed that compared with normal individuals, the hazard ratio of cardiovascular disease mortality in patients with the "three diseases" was 2.55 (95% CI: 1.63-3.99). Conclusion:The prevalence of comorbidity of hypertension, diabetes, and dyslipidemia among residents aged≥40 in Liaoning Province was relatively high, and the risk of cardiovascular disease mortality in patients with the "three diseases" was increased.

Objective:To investigate the prevalence of diabetes in the elderly aged ≥60 years in Liaoning Province from 2017 to 2019 and analyze the impact of blood glucose control on all-cause mortality and cardiovascular disease (CVD) mortality.Methods:A survey was conducted in the elderly aged ≥60 years in Liaoning from 2017 to 2019 to collect the information about the prevalence of diabetes and other chronic diseases in the diabetes patients. The mortality of the enrolled subjects was investigated in September 2023. Cox proportional hazards regression models were used to estimate the association between blood glucose control in the elderly with diabetes and the risks of all-cause mortality and CVD mortality.Results:The crude prevalence of diabetes in the elderly aged ≥60 years was 20.2% (2 014/9 958) in Liaoning from 2017 to 2019, and the standardized prevalence rate was 19.9%. The prevalence rates of hypertension, dyslipidemia, and overweight/obesity in the diabetes patients were 77.0%, 51.7%, and 67.5% respectively. The median follow-up time was 5.5 years, and the all-cause mortality and CVD mortality rates in the diabetes patients were 244.3/10 000 person-years and 142.9/10 000 person-years, respectively. The results of the Cox proportional hazards regression model analysis showed that compared with non-diabetic individuals, diabetes patients had an increased risk of all-cause mortality by 1.68 times [hazard ratio ( HR)=1.68, 95% CI: 1.44-1.94] and an increased risk of CVD mortality by 1.56 times ( HR=1.56, 95% CI: 1.29-1.89). The differences in risks of all-cause mortality and CVD mortality between the diabetes patients with normal fasting blood glucose and glycated hemoglobin levels and people without diabetes were not significant (all P>0.05). The failure to meet either the FPG or HbA1c target increased the risk of all-cause mortality (all P<0.05). For individuals who failed to meet the HbA1c target, there was an increased risk of CVD mortality (all P<0.05). Conclusions:The comorbidity rate of chronic diseases was higher in the elderly with diabetes than in the elderly without diabetes in Liaoning. Elderly diabetes patients can benefit from good blood glucose control.

Objective: To explore the prevalence and risk factors of ischemic stroke in rural areas of Liaoning province. Methods: The study was a cross-sectional survey. From September 2017 to May 2018, a total of 10 926 rural residents aged ≥40 years were investigated in Chaoyang county, Lingyuan, Liaoyang county and Donggang city of Liaoning province. The investigation included questionnaire survey, physical examination and laboratory examination.Univariate and multivariate logistic regression models were used to analyze the risk factors of ischemic stroke. Results: The prevalence of ischemic stroke in the rural areas of Liaoning province was 5.51% (602/10 926), and the standardized prevalence rate was 4.04%. The standardized prevalence rate of male (5.05%) is higher than that of female (3.44%). The prevalence of ischemic stroke increased with age in both males (P<0.01) and females (P<0.01). Multivariate logistic regression analysis showed that age increase(compared with 40-49 years old group, 50-59 years old, OR=2.08, 95%CI 1.31-3.30, P=0.02; 60-69 years old, OR=3.90, 95%CI 2.51-6.05, P<0.01; 70-79 years old, OR=5.32, 95%CI 3.37-8.34, P<0.01; ≥80 years old, OR=3.64, 95%CI 2.00-6.62, P<0.01), male(OR=2.35, 95%CI 1.95-2.84, P<0.01),family history of stroke(OR=2.18, 95%CI 1.83-2.60, P<0.01),coronary heart disease (OR=2.01, 95%CI 1.52-2.66, P<0.01), hypertension (OR=2.82, 95%CI 2.21-3.60, P<0.01), diabetes mellitus (OR=1.36, 95%CI 1.11-1.67, P=0.03) and overweight/obese (OR=1.22, 95%CI 1.02-1.47, P=0.03) were the major risk factors of ischemic stroke. Conclusions The prevalence of ischemic stroke in rural areas of Liaoning province is high. Age, male, family history of stroke, coronary heart disease, hypertension, diabetes mellitus, overweight/obesity are the risk factors of ischemic stroke in rural areas of Liaoning province.