Scavenger receptor class B, member 2 (SCARB2) is linked to Gaucher disease and Parkinson's disease. Deficiency in the SCARB2 gene causes progressive myoclonus epilepsy (PME), a rare group of inherited neurodegenerative diseases characterized by myoclonus. We found that Scarb2 deficiency in mice leads to age-dependent dietary lipid malabsorption, accompanied with vitamin E deficiency. Our investigation revealed that Scarb2 deficiency is associated with gut dysbiosis and an altered bile acid pool, leading to hyperactivation of FXR in intestine. Hyperactivation of FXR impairs epithelium renewal and lipid absorption. Patients with SCARB2 mutations have a severe reduction in their vitamin E levels and cannot absorb dietary vitamin E. Finally, inhibiting FXR or supplementing vitamin E ameliorates the neuromotor impairment and neuropathy in Scarb2 knockout mice. These data indicate that gastrointestinal dysfunction is associated with SCARB2 deficiency-related neurodegeneration, and SCARB2-associated neurodegeneration can be improved by addressing the nutrition deficits and gastrointestinal issues.
Animals ; Mice ; Dysbiosis/metabolism* ; Mice, Knockout ; Humans ; Lysosomal Membrane Proteins/genetics* ; Receptors, Scavenger/genetics* ; Gastrointestinal Microbiome ; Myoclonic Epilepsies, Progressive/genetics* ; Vitamin E Deficiency/complications* ; Neurodegenerative Diseases/genetics* ; Bile Acids and Salts/metabolism* ; Male ; Lipid Metabolism ; Intestinal Mucosa/pathology*

Objective:To investigate the prevalence of hearing loss among community-dwelling older people aged 60 and over, and also to compare the discrepancies between self-reported hearing loss and hearing loss diagnosed via audiometry.Methods:Subjects were from the Prevention and Intervention on Neurodegenerative Disease for the Elderly in China(PINDEC)project.By using the stratified multi-stage cluster random sampling method, a total of 10 347 residents aged 60 years and over were selected from 12 counties and districts in Liaoning, Henan and Guangdong Provinces and hearing function assessment was performed in 2020 through otoscopy, pure-tone audiometry and questionnaires.Hearing loss(HL)was defined by the World Health Organization criteria.Self-reported hearing loss was assessed by asking participants whether they had difficulty in hearing.The χ2 and Cochran-Armitage trend tests were used to analyze the differences in HL between different groups.The multivariate Logistic regression model was applied to assess factors influencing HL. Results:In 2020, the prevalence of HL among the elderly aged 60 and older in Liaoning, Henan and Guangdong Provinces was 69.8%(95% CI: 68.9%-70.7%). The prevalence of HL in men was higher than that in women, and increased gradually with age.The prevalence of mild HL was 47.2%, and the prevalence of moderate, severe and profound HL were 18.0%, 3.6% and 0.9%, respectively.Multivariate Logistic regression analysis showed that factors positively correlated with HL were aging, male sex, living in rural areas and working in manual labor.Education level was negatively correlated with HL.Of the 7223 participants who were found to have HL, 5106(70.7%)self-reported having good hearing.Those of a younger age, with a higher educational achievement, having a spouse, or with mild HL were more likely to report having good hearing(all P<0.05). Conclusions:Hearing loss is quite prevalent among community-dwelling older people, and there is a large discrepancy in prevalence between self-reported HL and HL diagnosed via audiometry.Screening and comprehensive intervention for hearing loss for the elderly should be strengthened.

Stroke has high disability rate and high mortality rate, resulting in huge disease burden to society and individuals. In the context of highly informationization of global health system, countries have built and improved various public health information platform to provide support for health decision-making through public health information collection, classification, extraction, analysis and sharing in the research of disease burden of stroke. Based on the retrieval of domestic and foreign literatures, this paper summarizes the research methods of stroke-caused disease burden and its public health information sources in China, evaluates the significance of public health as well as the limitations of each research method of disease burden and describes the application and development of stroke-caused disease burden big data platform in the world, and provide suggestions for establishing a more modern and information-based stroke-caused disease burden evaluation system in China by analyzing the limitations of the existing stroke-caused disease burden evaluation system.

Objective:To study the correlation between hypertension label and self-rated health (SRH) in adults aged ≥18 years in China.Methods:Data were from 2013 Chronic Non-communicable Disease and Risk Factor Surveillance Project. The project collected the information through multi stage stratified cluster sampling, face-to-face questionnaire survey and on-site body measurement. The SRH status of the adults was inquired according to the recommendation of Behavioral Risk Factor Surveillance System (BRFSS) in the United States. Blood pressure measurement was performed by using OMRON HBP-1300 electronic sphygmomanometer. Surveymeans and surveyfreq processes were used to describe the general characteristics of the sample population. The cumulative odds logit model was implemented by the processes of surveylogistic to analyze the association between hypertension label and self-rated health in adults in China.Results:A total of 173 008 subjects were included in this study. Hypertension was associated with poorer SRH ( OR=1.29, 95 %CI: 1.22-1.35, P<0.001), but this association was eliminated by adjustment for hypertension label ( P=0.670). Hypertension label was associated with poorer SRH ( OR=2.09, 95 %CI: 1.96-2.23, P<0.001) and the association was still significant even after adjusting for actual hypertension status ( OR=2.08, 95 %CI: 1.94-2.23, P<0.001). In hypertension group, those with hypertension label had poorer SRH than those without hypertension label ( OR=2.18, 95 %CI: 2.02-2.36, P<0.001). In normal blood pressure group, those with hypertension label had poorer SRH than those without hypertension label ( OR=1.89, 95 %CI: 1.64-2.18, P<0.001). Men’s SRH was more sensitive to hypertension label, especially in hypertension group ( OR=2.20, 95 %CI: 1.98-2.45, P<0.001). The results were all adjusted for demographic factors, smoking status, alcohol consumption, physical activity and chronic diseases. Conclusions:Hypertension label is associated with self-rated health independently in adults in China. The diagnosis of hypertension should strictly follow the latest guidelines.

Objective:To investigate the association of apolipoprotein E (ApoE) genotype, sleep problem, olfaction problems, chronic constipation and their interactions on cognitive impairment in the elderly aged 60 and above.Methods:A stratified multi-stage cluster sampling was used in 6 provinces (autonomous administrative regions and municipalities) to select the sample. 1 300 cases with cognitive impairment and 2 600 controls without cognitive impairment were recruited and matched according to their age, gender and resident area in a 1∶2 case-control study. A total of 3 501 people were included after data cleaning. Chi-square test and conditional logistic regression model were used for univariate analysis, multivariate analysis and interaction analysis.Results:ApoE carrying ε4 genotypes, sleep problems, smell disorders, constipation is independent risk factors of cognitive impairment in the elderly ( OR=1.44, 1.65, 2.26, 2.13, P<0.001). The additive interaction between ApoE genotype and olfaction change was statistically significant [ AP=0.45(95% CI: 0.13- 0.77), S=2.37 (95% CI: 1.08-5.24)]. The interaction between other factors with cognitive impairment was not found to be statistically significant. The above results were adjusted for occupation, tea drinking, neighborhood interaction, social activities, physical exercise, reading books and newspapers, playing cards and mahjong, memory changes and hypertension, diabetes, stroke. Conclusions:ApoE genotype, sleep problems, olfaction problems, and chronic constipation are risk factors for cognitive impairment in people 60 and older. There is a synergistic interaction effect between ApoE genotype and olfaction problems on cognitive impairment in the elderly over 60 years old.

Background: and PurposeHyperekplexia (HPX), a rare neurogenetic disorder, is classically characterized by neonatal hypertonia, exaggerated startle response provoked by the sudden external stimuli and followed by a shortly general stiffness. Glycine receptor alpha 1 (GLRA1) is the major pathogenic gene of the disease. We described the clinical manifestations of genetically confirmed HPX patients and made a literature review of GLRA1-related HPX to improve the early recognition and prompt the management of the disorder. Methods: Extensive clinical evaluations were analyzed in 4 Chinese HPX patients from two unrelated families. Next generation sequencing was conducted in the probands. Sanger sequence and segregation analysis were applied to confirm the findings. Results: All four patients including 3 males and 1 female presented with excessive startle reflex, a cautious gait and recurrent falls. Moreover, startle episodes were dramatically improved with the treatment of clonazepam in all cases. Exome sequencing revealed 2 homozygous GLRA1 mutations in the patients. The mutation c.1286T>A p.I429N has been previously reported, while c.754delC p.L252* is novel. Conclusions HPX is a treatable disease, and clonazepam is the drug of choice. By studying and reviewing the disorder, we summarized the phenotype, expanded the genotype spectrum, and discussed the possible pathogenic mechanisms to enhance the understanding and recognition of the disease. Early awareness of the disease is crucial to the prompt and proper administration, as well as the genetic counseling.

Objective: To understand the health literacy and healthy city satisfaction of residents in Ningbo,and to provide a basis for further development of healthy city . Methods: The permanent residents aged 15 years old and above in six urban districts of Ningbo were selected by stratified multi-stage sampling and probability-proportionate-to-size sampling method. The health literacy and healthy city satisfaction of residents were surveyed by a self-designed questionnaire. Multivariate linear regression model was used to analyze the correlation between health literacy and healthy city satisfaction . Results: A total of 3 300 people were investigated and 3 035 valid questionnaires were returned,with an effective rate of 91.97%. The scores of health literacy were 22.67±4.83 in males and 23.04±3.13 in females;the scores of healthy city satisfaction were 3.30±0.32 in males and 3.31±0.33 in females;there were no statistically significant differences in the scores above between genders（P>0.05）. The scores of health literacy were 25.65±4.14 in the residents aged 35-44 years and 20.34±3.54 in the residents aged 15-34 years;the scores of healthy city satisfaction were 3.16±0.32 in the former and 3.45±0.31 in the latter;the former scored higher in health literacy but lower in healthy city satisfaction than the latter （both P<0.05）. The scores of health literacy were 23.80±3.90 in the married residents and 18.94±3.22 in the single,divorced or widowed ones;the scores of healthy city satisfaction were 3.35±0.33 in the former and 3.22±0.32 in the latter;the former scored higher both in health literacy and healthy city satisfaction than the latter （both P<0.05）. The results of multivariate linear regression analysis showed that the higher the scores of health literacy,the higher the scores of healthy city satisfaction （β'=0.028,P<0.05） . Conclusion Improving health literacy of residents could improve their satisfaction with healthy city construction.

Objective: To investigate the disability status and its epidemiological characteristics in the elderly in urban and rural communities in China. Methods: The participants were from the project of Prevention and Intervention on Neurodegenerative Disease for Elderly in China conducted in 2015. A total of 23 803 urban and rural residents aged over 60 years were selected through stratified multi-stage cluster sampling in 6 provinces for a set of standardized questionnaire interview and physical examinations. Activities of daily living (ADL) scale was used to assess the disability status of the elderly. χ² test was used to analyze the difference in basic activities of daily living (BADL) and instrumental activities of daily living (IADL) disabilities in different elderly populations. Multivariate logistic regression model was used to analyze the influence factors for disability. Results: Taking bath had the highest impairment rate (1.7%) while eating had the lowest impairment rate (0.6%) in BADL. Making phone call had the highest impairment rate (16.6%), followed by taking bus (5.5%) and taking medicine (1.8%) in IADL. The BADL and IADL disability rates in community seniors were 2.1% and 19.1%, respectively. BADL disability rate was higher in females, the widowed, illiterate, the elderly with low body weight or obesity (P<0.05). IADL disability rate was higher in females, rural residents, the widowed, the elderly with lower educational level or lower body weight (P<0.05). Multivariate analysis showed that risk for BADL disability increased with age and abnormal BMI, and decreased with the increase of education level. The risk factors for IADL disability included being female, age, rural residence, being widowed and low BMI. The risk for IADL disability was lower in those with higher education level and overweight or obesity. Conclusion The present study showed that the disability rate was high in the elderly in China, which was influenced by the aging and multi demographic characteristics of the elderly. It is important to strengthen the prevention of BADL and IADL disabilities and intervention in the elderly.

Objective: To analyze the decline of activities of daily living (ADL) ability and influencing factors over a period of 2 years in community-dwelling older adults in China. Methods: The study subjects were from the project of Prevention and Intervention on Neurodegenerative Disease for Elderly in China of 2015-2017 to select the samples. In 2015, a total of 23 803 community- dwelling residents adults, aged ≥60 years old, came from both urban and rural areas, were selected through a stratified multi-stage cluster sampling in 6 provinces and joint baseline survey. The follow-up was conducted in 2017 to collect the related information using the same questionnaires and examinations. Finally, 18 785 elderly people were included in this analysis after excluding those who were died, failed to follow up, had incomplete data cases or defined as ADL disability at baseline survey. The post-stratification weight on the sample data was done by using the 6^th national population census data as the standard, the rates of ADL/basic activities of daily living (BADL)/instrumental activities of daily living (IADL) disabilities over 2 years were calculated and compared among the elderly with different characteristics. Multiple logistic regression models were used to analyze the factors associated with BADL/IADL disabilities. Results: During the 2-year follow-up, ADL disability developed in 1 959 participants with a rate of 12.0% (1.6% for BADL disability and 10.4% for IADL disability only). Multivariate logistic regression analysis showed that the risk factors for BADL disability included increased age, obesity, comorbidity and cognitive impairment. The risk factors for only IADL disability included increased age, being female, lower weight and cognitive impairment. Compared with illiterates, the educated had lower risk for only IADL disability. Compared with those with normal weight, overweight and obese old people had lower risk for only IADL disabilities. Conclusion Increased age and cognitive impairment were associated with the increased risk for BADL and IADL disabilities. Older people with comorbidities had higher risk for BADL disability. Obesity increased the risk of BADL disability, but decreased the risk for IADL disability in older people. Women had a higher risk for IADL disability compared with men. Being educated was associated with lower risk of IADL disability.

Objective To investigate the epidemiological characteristics of obesity and its relationships to five common chronic diseases among the Chinese elderly population.Methods In 2013,The 4th Chronic Non-communicable Disease & Risk Factor Surveillance in China was conducted in 31 provinces.A multistage cluster sampling method was used at 298 National Disease Surveillance Points(DSPs).A total of 51778 adults aged 60 and over received a standardized questionnaire,physical examinations,and laboratory tests for blood lipid & glucose levels.The body mass index(BMI)was used for obesity measurement and waist circumference(WC)for central obesity measurement.After weighting adjustment of the sample,the prevalence of obesity and central obesity was compared between different genders,among different age groups,and among different regions.The unconditional Logistic regression model was applied to analyze the relationships of five selected chronic diseases with BMI and WC.Population attributable fractions (AFP)were also calculated.Results Among the elderly,the prevalence of obesity and central obesity was 13.2 ％ and 55.4 ％,respectively.Both were higher in women(16.3％ and 64.4％)than in men(9.9％ and 46.0％)and higher in the urban areas (15.6％ and 62.0％) than in the rural areas (12.0％ and 52.1％) (all P ＜ 0.05).The increased prevalence of five common chronic diseases was correlated with increased BMI and WC(all P＜0.05).After adjustment for confounders,obesity was associated with increased prevalence of hypertension,diabetes,dyslipidemia,and stroke (ORs:1.43-2.68,AFP s:0.05-0.18);central obesity was associated with increased prevalence of the five chronic diseases (ORs:1.35-1.88,AFPs:0.16-0.33)Conclusions High prevalence of obesity and central obesity can be seen in aged women and the urban elderly population.Obesity and central obesity are both related to hypertension,diabetes,dyslipidemia,and stroke.Besides,central obesity is also associated with myocardial infarction.