1.Growth and decline of Oncomelania hupensis status in Duchang County at North shore of Poyang Lake,2005-2012
Huanli CAO ; Yifeng LI ; Xiaoqing ZOU ; Chunjiu YU ; Baolong ZHANG ; Shangbiao LV
Chinese Journal of Schistosomiasis Control 2015;(1):82-83,103
Objective To understand the dynamic of Oncomelania hupensis snail status in Duchang County at north shore of Poyang Lake so as to provide the evidence for formulating the strategy of schistosomiasis control. Methods The data about the snail status in Duchang County from 2005 to 2012 were collected and the change trend of the snail status was analyzed. Re?sults From 2005 to 2012 all the average density of living snails the occurrence rate of frames with living snails the density of infected snails and the area with infected snails showed a trend of sharp decline and stayed at a low level. Compared to 2005 the above 4 indexes in 2008 decreased by 70.06% 90.33% 79.48% and 37.88% respectively and those in 2012 decreased by 99.35% 98.98% 99.33% and 93.84% respectively. The infection rates of snails fluctuated between 0.06%and 0.53%which showed a trend of first decrease and then increase. The snail area maintained at the level of 2 052.5 hm2 since 2007. Con?clusions Most of the indexes of the snail status in Duchang County have decreased to the lowest level in history since 2012 but the snail area is stable and the infection rate of snails shows a fluctuation trend which suggests that the risks of schistosomia?sis transmission still exist and the snail control still should be strengthened.
2.Membrane Aging as the Real Culprit of Alzheimer's Disease: Modification of a Hypothesis.
Neuroscience Bulletin 2018;34(2):369-381
Our previous studies proposed that Alzheimer's disease (AD) is a metabolic disorder and hypothesized that abnormal brain glucose metabolism inducing multiple pathophysiological cascades contributes to AD pathogenesis. Aging is one of the great significant risk factors for AD. Membrane aging is first prone to affect the function and structure of the brain by impairing glucose metabolism. We presume that risk factors of AD, including genetic factors (e.g., the apolipoprotein E ε4 allele and genetic mutations) and non-genetic factors (such as fat, diabetes, and cardiac failure) accelerate biomembrane aging and lead to the onset and development of the disease. In this review, we further modify our previous hypothesis to demonstrate "membrane aging" as an initial pathogenic factor that results in functional and structural alterations of membranes and, consequently, glucose hypometabolism and multiple pathophysiological cascades.
Aging
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pathology
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Alzheimer Disease
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etiology
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pathology
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Animals
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Brain
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pathology
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Cell Membrane
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pathology
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Humans
3.Analysis of Whole Exome Sequencing Result in Adult Genetic Diseases
Li ZHANG ; Yaoyi GAO ; Li YU ; Xianhong SHU ; Jingmin ZHOU ; Jing DING ; Chunjiu ZHONG ; Chunyan ZHAN ; Baishen PAN ; Beili WANG ; Wei GUO
Chinese Journal of Laboratory Medicine 2024;47(10):1192-1196
Objective:To investigate the effectiveness and feasibility of whole exome sequencing (WES), as a molecular diagnosis technique, for adult patients with genetic diseases.Methods:The present retrospective analysis included 445 adult patients (ages 18-80 years) with suspected genetic diseases who underwent whole exome sequencing (WES) from August 2021 to December 2022. The pathogenicity classification of each variant was assessed in accordance with the recommendations developed by the American Society of Medical Genetics and Genomics.Results:The overall positive rate of WES among adult patients with suspected genetic diseases was 28.08% (125/445). The highest positive rate was observed in the age group of 41-50 years (34.33%, 23/67). Among the diagnosed genetic diseases, those affecting the cardiovascular system (63.16%, 84/133), nervous system (18.05%, 24/133), and endocrine system (13.53%, 18/133) ranked as the top three. The most common genetic diseases identified through WES in adult patients were hypertrophic cardiomyopathy (18.80%, 25/133), dilated cardiomyopathy (16.54%, 22/133), Marfan syndrome (15.04%, 20/133), epilepsy (9.02%, 12/133), and familial hypercholesterolemia (4.51%, 6/133). The main causative genes identified included FBN1 (14.29%, 19/133), MYBPC3 (9.02%, 12/133), MYH7 (9.02%, 12/133), LDLR (3.76%, 5/133), TTN (3.76%, 5/133), and TNNI3 (3.01%, 4/133).Conclusion:Applying the WES technique in clinical practice can improve the diagnostic rate of adult genetic diseases, especially in adult patients with suspected genetic conditions involving the cardiovascular system, nervous system, and endocrine system.