Results 21 to 30 of about 23,574 (118)
ABSTRACT Objective To identify prenatal predictors of tuberous sclerosis complex (TSC) in fetuses with one or more cardiac rhabdomyomas (CR), evaluate an integrated multimodal diagnostic workflow using fetal magnetic resonance imaging (MRI) and trio whole‐exome sequencing (trio‐WES) and characterize perinatal outcomes.
X. Cai +8 more
wiley +1 more source
目的探讨非免疫性胎儿水肿(NIHF)的超声特征及病因学分布情况。方法纳入2012年12月至2019年1月就诊于中山大学附属第一医院产前超声诊断为NIHF病例232例,回顾性分析其超声特征及病因学分布情况。结果① NIHF最常见于TTTS Ⅳ期(50/232,21.55%);最常见超声水肿的部位为皮肤水肿(159/232,68.53%);最常合并的畸形为心血管系统异常(15/232,6.47%)。NIHF的活产率为31.47%。② 185例行产前遗传学检测的病例中,异常检出率40.54%(75/185 ...
刘权瑞 +5 more
doaj
ABSTRACT Objective To investigate the incidence of pre‐eclampsia (PE) and the predictive performance of the Fetal Medicine Foundation (FMF) first‐trimester PE screening algorithm across pregnancies conceived using assisted reproductive technology (ART), after ovulation induction (OI) and through spontaneous conception (SC).
A. S. L. Kjaer +23 more
wiley +1 more source
介绍了一起220 kV GIS设备出线管母发热异常的分析处理过程。通过对红外测温、局放特高频检测、局放超声波检测、SF6成分检测等结果的分析,认为触头接触不良是导致发热异常的主要原因。经解体检查,发现导电杆与触指间存在明显刮痕,出线管母安装工艺不良导致电流不能均匀流过触指,从而引起发热异常。该起案例表明仅仅通过传统的回路电阻测试并不一定能有效发现接触不良缺陷,需结合其他检测手段进行综合评估。该次GIS设备异常的处理经验,为今后类似异常的处理分析提供借鉴与参考。
何良 +5 more
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ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis
ABSTRACT Background Ichthyosis fetalis (IF), also known as harlequin ichthyosis, is a rare and often fatal autosomal recessive congenital skin disorder. It is characterized by thickened, hard skin plaques and deep skin fissures that limit mobility and cause malformations of the eyes, lips and ears.
Jeanna M. Blake +2 more
wiley +1 more source
【目的】探讨染色体微阵列分析技术(CMA)在全基因组水平分析持续性左上腔静脉(PLSVC)胎儿遗传性病因的临床应用价值。【方法】2014年1月至2016年12月在中山大学附属第一医院行胎儿系统超声筛查提示持续性左上腔静脉且在我院产前诊断中心接受常规染色体核型分析和CMA检测的81例胎儿纳入研究,比较持续性左上腔静脉胎儿核型分析和CMA检测染色体异常的检出率差异。根据是否合并其他超声异常,分为单纯组及合并异常组,比较单纯组与合并异常组染色体异常检出率差异。【结果】核型分析的异常率为18.5%(15/81),
杜柳 +5 more
doaj
ABSTRACT Objectives To assess the value of placental insufficiency markers for estimating the risk of genetic anomalies in fetuses with isolated early‐onset fetal growth restriction (FGR), defined as an estimated fetal weight ≤ 3rd percentile diagnosed ≤ 28 + 6 weeks' gestation.
M. Armengol‐Alsina +17 more
wiley +1 more source
基于对多种检测技术应用特点的分析,提出一种有无异常的快速巡检、电检测确认异常及部位、辅助检测分析印证异常的三步序综合判断GIS中局部放电缺陷的诊断策略。针对一起110 kV GIS的绝缘缺陷,遵循综合检测策略,进行了测试分析。测试结果验证了该综合诊断策略的有效性,为准确判断运行中的GIS绝缘缺陷提供了一种新的诊断策略。
王科
doaj
Read the free Plain Language Summary for this article on the Journal blog. Abstract Organic phosphorus mineralization is a critical process in the phosphorus cycle, governing phosphorus bioavailability for plants. The PhoD gene, which encodes the key enzyme alkaline phosphatase, serves as a valuable biomarker for this process.
Sandhya Mishra +3 more
wiley +1 more source
油中溶解气体分析是电力变压器常用的状态检测手段,在变压器运行与维护中发挥了显著作用,但因现有油中溶解气体在线监测系统可靠性问题及现场干扰,监测数据中充斥着大量的伪数据及错数据,易引起误判。针对此问题,监测系统常采用基于数据分布统计的阈值法判定数据真伪,因数据分布规律预先难以掌握,造成异常数据检出率普遍低下问题。文中依据油中溶解气体在线监测数据时间序列特点,提出了一种基于凝聚层次聚类的异常数据检测方法。首先,利用滑动时间窗对多种油中气体监测数据进行预处理,获得监测数据时间序列集,接着通过综合应用均值、阈值、
王文森 +4 more
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