分类： 医学、药学 >> 临床医学 提交时间： 2023-10-09
摘要： Background Peripheral artery disease（PAD）is a common and serious cardiovascular disease，which is prone to complications of limb ischemia and adverse cardiovascular events. There is a gender difference in the prevalence of PAD，which has been relatively poorly studied. A full understanding of gender differences in prevalence of PAD in China is essential for public health policy development. Objective To analyze the gender differences in the prevalence of PAD in China and their causes，providing a theoretical basis for targeted screening and preventive measures. Methods The number of PAD cases，prevalence，age-standardized prevalence， attributable risk factors for disease burden，and corresponding 95% uncertainty intervals（UI）were extracted from the 2019 Global Burden of Disease（GBD）database for males and females in China and females in Japan，Korea，India and globally. R language was used to analyze the data and visualize the analysis of this study. Joinpoint software was used to analyze the trend of PAD prevalence in males and females in China over time from 1990 to 2019，andthe annual percentage change（APC）and average annual percentage change（AAPC）of PAD prevalence and their 95% confidence intervals（CI）were calculated. A Bayesian age-period-cohort（BAPC）model was used to predict the number and prevalence of PAD in 20202035. Results The estimated prevalence of PAD in China in 2019 was 71.74100 000 for males and 213.15100 000 for females. Compared with 1990，the number of PAD cases in 2019 increased by 154.22% in males and 181.27% in females. In 2019，the number of cases and prevalence of PAD among males in Japan，Korea，India and globally were all higher than those in 1990，but the age-standardized prevalence was lower. In 1990，the age-standardized prevalence of PAD among women in China was 57.80% and 76.35% of those in Japan and Korea，1.10 times and 1.33 times of those in Japan and Korea in 2019. The prevalence of PAD in Chinese men was 462.40/100 000 in 1990 and 989.79/100 000 in 2019，with an increase of 114.05%，and showed an upward trend during 1990 to 2019. The prevalence of PAD in Chinese women was 1 321.44 per 100 000 in 1990 and 3 055.85/100 000 in 2019，with an increase of 131.25%，and showed an upward trend from 1990 to 2019. The prevalence of PAD in Chinese women was 3.09 times higher than that of men in 2019. The age-standardized prevalence of PAD in Chinese males was 731.02/100 000 in 1990 and 744.96/100 000 in 2019，with an increase of 1.91%，showed an increasing trend from 1990 to 1993 and from 1993 to 2005，and a decreasing trend from 2005 to 2019. The age-standardized prevalence of PAD in Chinese women was 1 839.43/100 000 in 1990 and 2 022.13/100 000 in 2019，with an increase of 9.93%，showing an increasing trend from 1990 to 2005（P0.05）. In 2019，the age-standardized prevalence of PAD in Chinese women was 2.71 times of men. BAPC model predicts that the number of PAD cases will reach 101.30100，000 in Chinese men and 319.24100 000 in Chinese women by 2035. In 2035，the number of Chinese women with PAD will increase by 49.77% compared with 2019. In terms of age，the largest number of Chinese women aged 65-69 with PAD in 2019 will be 35.15100 000，and the largest number of women aged 70-74 with PAD in 2035 will be 55.89100 000. In 2035，the number of Chinese women aged 40 to 44，45 to 49，50 to 54 and 55 to 59 with PAD will be lower than that in 2019，and the number of Chinese women aged 60 to 64，65 to 69，70 to 74，75 to 79，80 to 84，85 to 89，90 to 94 and 95 with PAD will be higher than that in 2019. In 2035，the age-standardized prevalence of PAD in Chinese men and women will be 712.09/100 000 and 1 945.97/100 000， respectively，decreasing by 4.41% and 3.77% compared with 2019. By age，the prevalence of PAD in Chinese women in 2035 will increase with age，and the prevalence of PAD in all age groups will be decreased compared with 2019 except for those aged 95 years. The disease burden of PAD in China in 2019 can be attributed to six risk factors，including hypertension，smoking，diabetes，renal insufficiency，high-salt diet and lead exposure. The most important risk factor for men was smoking（44.32%），followed by hypertension（18.97%）and diabetes（16.11%）. The most common risk factor for women was hypertension（32.31%），which was followed by diabetes（24.81%） and renal insufficiency（17.27%）. Conclusion The number of cases，prevalence and age-specific prevalence of PAD in Chinese women are significantly higher than those in men，and the age-standardized prevalence has already exceeded that of Japan and Korea. In the foreseeable future，the number of Chinese women suffering from PAD will further increase，and the number of elderly women suffering from PAD will increase more and more obviously. Therefore，more attention should be paid to the changes in gender and age，and gender differences in risk factors of PAD patients，and necessary screening and prevention measures should be taken.
分类： 医学、药学 >> 基础医学 提交时间： 2017-12-27 合作期刊: 《南方医科大学学报》
摘要： Objective Mutations in CACNA1A, which encodes the P/Q-type calcium channel subunit, are responsible for at least 3 allelic diseases, namely type 2 episodic ataxia (EA-2), familial hemiplegic migraine type-1 (FHM1), and spinocerebellar ataxia type-6 (SCA 6). Herein we present a case of ataxia with episodic tremors in a 19-year-old man with a missense mutation of CACNA1A gene and summarize the clinical features, genetic analysis and treatment in this case and in his affected family members. Methods Physical examinations were conducted for the patient and his affected family members. DNA sample from the proband was analyzed with next-generation sequencing technology to identify the causative mutation. Sanger sequencing was used to confirm the gene mutation in the family members. Results Physical examinations of the patient revealed signs of ataxia, drunken gait, and tremor of his head and body. Four other members in his family had similar but much milder symptoms. A heterozygous missense mutation in CACNA1A (NM_001127221.1 c.4034G->A, p.R1345Q, exon 25) was identified in the proband, which was confirmed in the affected family members. The proband did not respond to methazolamide treatment, but his tremor symptom was well controlled with flunarizine, a calcium channel blocker. Conclusion Based on the clinical features, mutation analysis and treatment response, we suggest that this patient with a missense CACNA1A mutation, R1345Q, has a new type of ataxia with episodic tremor other than any of EA2, FHM1, or SCA 6.
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