目的明确1例特殊面容、生长迟缓、肢体异常患儿的致病基因变异及来源,为疾病的诊断和遗传咨询提供依据。方法采集患儿及其父母外周血样并提取DNA,进行全外显子组测序检测,结合生物信息学分析方法进行数据分析,获取致病性基因变异位点,...目的明确1例特殊面容、生长迟缓、肢体异常患儿的致病基因变异及来源,为疾病的诊断和遗传咨询提供依据。方法采集患儿及其父母外周血样并提取DNA,进行全外显子组测序检测,结合生物信息学分析方法进行数据分析,获取致病性基因变异位点,最后利用Sanger测序进行验证。结果全外显子组测序结果显示位于5号染色体的NIPBL基因42号外显子上发现错义变异c.7177T>C(p.Ser2393Pro),该变异各人群数据库中未见收录。经父母Sanger验证显示,父母均无携带,属于新发变异(de novo mutation)。结合临床症状和基因检测结果,该患儿确诊为经典型德朗热综合征(Cornelia de Lange syndrome,CdLS)。结论对于特殊面容、生长迟缓、肢体异常的患儿应考虑CdLS可能,并常规进行基因检测明确诊断,有助于患儿随访管理、预后评估及遗传咨询等。展开更多
2019新型冠状病毒(2019 novel coronavirus,2019-nCoV),因2019年12月发生在中国武汉的不明原因病毒性肺炎病例而被发现,并于2020年1月12日被世界卫生组织(World Health Organization,WHO)命名。在之后的1个月内,2019-nCoV在湖北省内、...2019新型冠状病毒(2019 novel coronavirus,2019-nCoV),因2019年12月发生在中国武汉的不明原因病毒性肺炎病例而被发现,并于2020年1月12日被世界卫生组织(World Health Organization,WHO)命名。在之后的1个月内,2019-nCoV在湖北省内、中国甚至其他国家传播,造成了数以千计病例的出现,同时也引起了民众一定程度的恐慌。本指南的制订希望能够从疾病流行病学、病因学、诊断、治疗、护理、医院感染控制等方面给临床医师、社区居民等提供医疗护理及居家照护的相关指导。展开更多
In this paper, based on hourly precipitation observations in 1977e2013 in the Beijing area, China, hourly precipitation in summer (June?August) is classified into three categories: light (below the 50th percentile val...In this paper, based on hourly precipitation observations in 1977e2013 in the Beijing area, China, hourly precipitation in summer (June?August) is classified into three categories: light (below the 50th percentile values), moderate (the 50th to 95th percentile values), and heavy (above the 95th percentile values). Results reveal that both light and moderate precipitation decreased significantly during the research period and thereby caused the decrease in summer totals. By contrast, pronounced trends failed to be detected in the heavy category. Since 2004, the contribution of heavy rainfall to the summer total precipitation in the urban area increased as compared to the suburban area, which is opposite to light rainfall. There are obvious differences in the diurnal variations of classified precipitation. Light precipitation shows a double peak structure in the early morning and at night, while moderate and heavy rainfall show a single peak at night. Light precipitation at the early morning peak time decreased significantly in the whole Beijing area. Compared with the suburban area, light precipitation in the urban area occurred less frequently whereas heavy precipitation occurred more frequently at evening peak time after 2004. The asymmetry of the rainfall is obvious, especially, for heavy precipitation. The asymmetry of heavy precipitation events in the urban area exhibits a significant increasing trend.展开更多
文摘目的明确1例特殊面容、生长迟缓、肢体异常患儿的致病基因变异及来源,为疾病的诊断和遗传咨询提供依据。方法采集患儿及其父母外周血样并提取DNA,进行全外显子组测序检测,结合生物信息学分析方法进行数据分析,获取致病性基因变异位点,最后利用Sanger测序进行验证。结果全外显子组测序结果显示位于5号染色体的NIPBL基因42号外显子上发现错义变异c.7177T>C(p.Ser2393Pro),该变异各人群数据库中未见收录。经父母Sanger验证显示,父母均无携带,属于新发变异(de novo mutation)。结合临床症状和基因检测结果,该患儿确诊为经典型德朗热综合征(Cornelia de Lange syndrome,CdLS)。结论对于特殊面容、生长迟缓、肢体异常的患儿应考虑CdLS可能,并常规进行基因检测明确诊断,有助于患儿随访管理、预后评估及遗传咨询等。
文摘2019新型冠状病毒(2019 novel coronavirus,2019-nCoV),因2019年12月发生在中国武汉的不明原因病毒性肺炎病例而被发现,并于2020年1月12日被世界卫生组织(World Health Organization,WHO)命名。在之后的1个月内,2019-nCoV在湖北省内、中国甚至其他国家传播,造成了数以千计病例的出现,同时也引起了民众一定程度的恐慌。本指南的制订希望能够从疾病流行病学、病因学、诊断、治疗、护理、医院感染控制等方面给临床医师、社区居民等提供医疗护理及居家照护的相关指导。
基金This work was supported by the National Natural Science Foundation of China (41575094) and Special Scientific Research Fund of Meteorological Public Welfare Profession of China (GYHY201506014).
文摘In this paper, based on hourly precipitation observations in 1977e2013 in the Beijing area, China, hourly precipitation in summer (June?August) is classified into three categories: light (below the 50th percentile values), moderate (the 50th to 95th percentile values), and heavy (above the 95th percentile values). Results reveal that both light and moderate precipitation decreased significantly during the research period and thereby caused the decrease in summer totals. By contrast, pronounced trends failed to be detected in the heavy category. Since 2004, the contribution of heavy rainfall to the summer total precipitation in the urban area increased as compared to the suburban area, which is opposite to light rainfall. There are obvious differences in the diurnal variations of classified precipitation. Light precipitation shows a double peak structure in the early morning and at night, while moderate and heavy rainfall show a single peak at night. Light precipitation at the early morning peak time decreased significantly in the whole Beijing area. Compared with the suburban area, light precipitation in the urban area occurred less frequently whereas heavy precipitation occurred more frequently at evening peak time after 2004. The asymmetry of the rainfall is obvious, especially, for heavy precipitation. The asymmetry of heavy precipitation events in the urban area exhibits a significant increasing trend.
