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1.
Sphingomyelin phosphodiesterase (SMPD1) is a key enzyme in the sphingolipid metabolism. Genetic SMPD1 variants have been related to the Niemann-Pick lysosomal storage disorder, which has different degrees of phenotypic severity ranging from severe symptomatology involving the central nervous system (type A) to milder ones (type B). They have also been linked to neurodegenerative disorders such as Parkinson and Alzheimer. In this paper, we leveraged structural, evolutionary and stability information on SMPD1 to predict and analyze the impact of variants at the molecular level. We developed the SMPD1-ZooM algorithm, which is able to predict with good accuracy whether variants cause Niemann-Pick disease and its phenotypic severity; the predictor is freely available for download. We performed a large-scale analysis of all possible SMPD1 variants, which led us to identify protein regions that are either robust or fragile with respect to amino acid variations, and show the importance of aromatic-involving interactions in SMPD1 function and stability. Our study also revealed a good correlation between SMPD1-ZooM scores and in vitro loss of SMPD1 activity. The understanding of the molecular effects of SMPD1 variants is of crucial importance to improve genetic screening of SMPD1-related disorders and to develop personalized treatments that restore SMPD1 functionality.  相似文献   
2.
本文通过分析我省历史发生的特大干旱灾害事件,论述了不同时期特大干旱对粮食产量的严重影响。提出了21世纪特大干旱的研究与对策。  相似文献   
3.
This study investigated the relationship between self-appraisals of performance, symptom severity and post-event rumination in social phobia, and evaluated the effect of treatment on these variables. A socially phobic group and a nonanxious control group performed an impromptu speech and were told that their performance would be evaluated. Participants appraised their performance immediately after the speech and 1 week later, and the frequency of post-event rumination during the week following the speech was assessed. The socially phobic group maintained the negative appraisals of their speech over the week, whereas the nonclinical group showed increased positivity about their performance The socially phobic group also engaged in more negative rumination than controls. Treatment improved perceptions of performance and reduced negative rumination. These results are discussed in the light of cognitive models of social phobia. (PsycINFO Database Record (c) 2010 APA, all rights reserved)  相似文献   
4.
This study examined the degree to which different types of communication disturbances in the speech of 48 schizophrenia patients and 28 controls were variable and state related versus stable and traitlike. Clinically rated formal thought disorder and 5 types of referential disturbance showed substantial stability within participants over time. The sixth type of referential disturbance, the vague reference, was not stable over time. Formal thought disorder was associated with the severity of core psychotic symptoms in patients, whereas referential disturbances showed little or no association with positive or negative symptom severity. Furthermore, changes in psychotic symptoms over time were accompanied by corresponding changes in formal thought disorder but not referential disturbances. These results support the idea that some types of referential disturbances are traitlike and may be reflective of vulnerability as well as manifest illness. (PsycINFO Database Record (c) 2010 APA, all rights reserved)  相似文献   
5.
安徽省旱涝急转规律的认识与研究   总被引:6,自引:0,他引:6  
旱涝急转是指某一地区或某一流域发生较长时间干旱时,突遇集中强降雨,引发山洪暴发、河水陡涨.客水入侵、内水难以及时外排的一种自然现象。旱涝急转极易造成人员伤亡、水库垮坝等重大经济损失。在防汛抗旱中,安徽省要充分认识旱涝急转的危害性,加强应急管理,具体包括思想上保持高度的警觉,加快防汛抗旱工程体系和预测预警体系建设,有效应对旱涝急转。  相似文献   
6.
全球气候变暖对水资源的影响   总被引:6,自引:0,他引:6  
全球气候变暖加剧了干旱、洪涝、台风等自然灾害的发生,是目前各国政府和社会公众普遍关注的热点问题。根据有关资料对气候变暖研究进展情况作相关介绍,可供参考。  相似文献   
7.
本文针对辽宁省2000年发生的干旱,从大气环流、气候、降水、径流、水资源量等方面,较系统地阐述了各因素的发展规律、特点及物理成因。采用降水指标、径流指标、受旱率进行干旱程度分析。评价出辽宁省2000年干旱为特大干旱。  相似文献   
8.
辽宁省2002年水情趋势预测   总被引:1,自引:0,他引:1  
针对辽宁省旱涝发生的基本规律,系统介绍多年来开展水文中长期预报所应用的理论和方法,总结水情趋势预测工作的经验,对2002年水情趋势进行分析预测。  相似文献   
9.
中国的主要水问题及水文学的机遇   总被引:13,自引:3,他引:10  
从水资源开发利用与保护、水旱灾害防治等方面论述中国当前存在的主要水问题:水危机和水浪费同时存在、水污染日趋严重、防洪减灾任重道远、生态环境破坏严重、全球气候变暖产生不利影响;进而论述水文学研究面临的新课题:水文现象的不确定性、人类活动对水文的影响、水位频率计算、水资源开发利用的最佳效应、水资源供需分析、农业节水灌溉机理及水旱灾害的防治,并指出必须加强对这些新课题的研究  相似文献   
10.
Previous studies have identified a number of different farm stressors and have reported gender and age differences in levels of stress. This study aimed to determine stress experienced by New Zealand dairy farmers, particularly in relation to adoption of new technology and its relationship to age and gender. Measures of farm stress and adoption of technology were completed by 985 dairy farmers. The highest levels of stress were reported for time pressures, machinery breakdown, weather, and government policies. Stress related to new technologies occurred rarely. Women reported more stress and higher levels of stress for understanding new technologies. There was also an increase in severity of stress with age related to new technologies. Overall, stress levels were moderate and may reflect favorable economic conditions. The findings suggest a need to tailor stress interventions to meet specific needs. (PsycINFO Database Record (c) 2010 APA, all rights reserved)  相似文献   
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