徐州地区334例早产儿临床分析

目的探讨我院2006年334例早产儿,分析发生的危险因素,以总结提高产科早产预防、医疗水平,并提供研究参考。方法早产组334例与同期分娩的足月对照组334例分析比较,早产的临床相关因素及对围产儿的影响。结果胎膜早破,妊娠高血压综合征,前置胎盘,臀位,多胎妊娠是早产的重要因素。早产使新生儿窒息,围生儿死亡,低体重儿增加。结论早产使围产儿窒息和死亡率增加。加强早产预测可望降低早产的发生,提高围生医学质量。     

The effect of automated landmark identification on morphometric analyses

Morphometric analysis of anatomical landmarks allows researchers to identify specific morphological differences between natural populations or experimental groups, but manually identifying landmarks is time‐consuming. We compare manually and automatically generated adult mouse skull landmarks and subsequent morphometric analyses to elucidate how switching from manual to automated landmarking will impact morphometric analysis results for large mouse (Mus musculus) samples (n = 1205) that represent a wide range of ‘normal’ phenotypic variation (62 genotypes). Other studies have suggested that the use of automated landmarking methods is feasible, but this study is the first to compare the utility of current automated approaches to manual landmarking for a large dataset that allows the quantification of intra‐ and inter‐strain variation. With this unique sample, we investigated how switching to a non‐linear image registration‐based automated landmarking method impacts estimated differences in genotype mean shape and shape variance‐covariance structure. In addition, we tested whether an initial registration of specimen images to genotype‐specific averages improves automatic landmark identification accuracy. Our results indicated that automated landmark placement was significantly different than manual landmark placement but that estimated skull shape covariation was correlated across methods. The addition of a preliminary genotype‐specific registration step as part of a two‐level procedure did not substantially improve on the accuracy of one‐level automatic landmark placement. The landmarks with the lowest automatic landmark accuracy are found in locations with poor image registration alignment. The most serious outliers within morphometric analysis of automated landmarks displayed instances of stochastic image registration error that are likely representative of errors common when applying image registration methods to micro‐computed tomography datasets that were initially collected with manual landmarking in mind. Additional efforts during specimen preparation and image acquisition can help reduce the number of registration errors and improve registration results. A reduction in skull shape variance estimates were noted for automated landmarking methods compared with manual landmarking. This partially reflects an underestimation of more extreme genotype shapes and loss of biological signal, but largely represents the fact that automated methods do not suffer from intra‐observer landmarking error. For appropriate samples and research questions, our image registration‐based automated landmarking method can eliminate the time required for manual landmarking and have a similar power to identify shape differences between inbred mouse genotypes.     

Strengthening the Evidence for Maternal and Child Health: Implementing the New Performance Measurement Framework for the Title V Maternal and Child Health Block Grant

Maternal and Child Health Journal - The Health Resources and Services Administration’s Maternal and Child Health Bureau (HRSA MCHB) developed a three-tiered performance measure framework for...     

矮小儿童骨龄骨密度值与年龄身高体重的相关性

目的研究矮小儿童的骨龄、骨密度值与年龄、身高、体重的相关性。方法选取2016年1月至2018年10月于广州市越秀区妇幼保健院进行咨询与治疗的64例矮小儿童作为研究对象,记录入组儿童的年龄、性别、身高以及体重等一般资料,同时检测入组儿童的超声骨密度,并通过腕骨平片评估其骨龄,分析不同骨龄、骨密度值与年龄、身高、体重的关系。结果入组儿童的实际年龄与骨密度、骨龄呈正相关(男童r=0.658、0.919,女童r=0.641、0.906);入组儿童的身高与骨密度、骨龄呈正相关(男童r=0.561、0.326,女童r=0.586、0.349);入组儿童的体重与骨密度、骨龄呈正相关(男童r=0.340、0.314,女童r=0.395、0.282)。结论矮小儿童的骨龄、骨密度值与其年龄、身高、体重均呈正相关关系,在临床诊断和治疗中,利用骨龄及骨密度进行指导,能够产生较为显著的效果,可以为矮小儿童的评估和预测提供更加科学的指标。     

Hand grip strength as a predictor of recovery from low back pain in the pregnant women-a prospective study

BackgroundLow back pain (LBP) is a common musculoskeletal problem during pregnancy with an estimated prevalence ranging from 30% to 78%. The symptoms usually disappear gradually after delivery, but some women may have persistent problems even later in their lives. The definite mechanism behind LBP during pregnancy remains unknown. Therefore, the purpose of this study was to investigate whether hand grip strength (HGS), which is a straightforward and reliable indicator of overall muscle strength, is associated with unrecovered LBP after delivery.Methods257 pregnant women who registered at obstetrics units in two tertiary hospitals from January 2016 to June 2017 and meanwhile suffered the LBP during pregnancy were included. They were grouped based on whether they recovered from LBP after delivery (recovery was de?ned as a pain rating of ≤3). The variables such as age, HGS, and education level were recorded and examined for the risk analysis of unrecovered LBP. Also, the Pearson correlation between HGS levels and pain intensities was investigated.ResultsLBP without recovery at two years after delivery was reported among 22.7% of the subjects. Women with increasing age, low HGS (<25 kg), LBP in a previous pregnancy, back pain, sick leave, and a large amount of physical demand (all p < 0.05), were more likely to report LBP without recovery. Besides, there was a significant correlation between HGS values and the intensities of LBP (r = ?0.525; p = 0.003).ConclusionsLow HGS has the highest OR value (adjusted OR = 9.12, P < 0.001) among these factors. The present findings may be used to design and encourage a specific stabilization exercise regime to build well stability of the lumbar spinal column and thus alleviating the LBP.     

Rare multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) – the clinical and molecular summary

Multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) is a rare autosomal recessive genetic disease belonging to glycosylphosphatidylinositols biosynthesis defects (GPIBD), a group of recessive disorders characterized by intellectual disability, hypotonia, and seizures. Glycosylphosphatidylinositols (GPIs) are glycolipids that anchor and remodel cell proteins. These processes are highly conserved and fundamental in the metabolism of all eukaryotes, including humans. Here, we have reported a male patient presenting with hypotonia, intellectual disability, and epilepsy, who underwent whole exome sequencing (WES). The analysis revealed the presence of two deleterious variants in PIGN that encodes GPI ethanolamine phosphate transferase-1 – one novel (c.1247_1251delAAGTG; p.Glu416Glyfs*22), and one that has been previously reported in the medical literature (c.1434+5G>A) resulting in MCAHS1. The detailed clinical assessment followed by the medical literature review also pointed out transient macrosomia and unreported in MCAHS1 advanced bone age and postnatal tall stature. These symptoms suggest that MCAHS1 shares a phenotypic overlap with disorders associated with overgrowth. To conclude, our case report and summary of the medical literature may be helpful for clinicians and geneticists who diagnose patients presenting with hypotonia accompanied by tall stature, advanced bone age, and transient macrosomia.     

Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease

BackgroundDiagnosis and treatment of 22q11.2 deletion syndrome (22q11.2DS) have led to improved life expectancy and achievement of adulthood. Limited data on long-term outcomes reported an increased risk of premature death for cardiovascular causes, even without congenital heart disease (CHD). The aim of this study was to assess the cardiac function in adolescents and young adults with 22q11.2DS without CHDs.MethodsA total of 32 patients (20M, 12F; mean age 26.00 ± 8.08 years) and a healthy control group underwent transthoracic echocardiography, including Tissue Doppler Imaging (TDI) and 2-dimensional Speckle Tracking Echocardiography (2D-STE).ResultsCompared to controls, 22q11.2DS patients showed a significant increase of the left ventricle (LV) diastolic and systolic diameters (p = 0.029 and p = 0.035 respectively), interventricular septum thickness (p = 0.005), LV mass index (p < 0.001) and aortic root size (p < 0.001). 2D-STE analysis revealed a significant reduction of LV global longitudinal strain (p < 0.001) in 22q11.2DS than controls. Moreover, several LV diastolic parameters were significantly different between groups.ConclusionsOur results suggest that an echocardiographic follow-up in 22q11.2DS patients without CHDs can help to identify subclinical impairment of the LV and evaluate a potential progression of aortic root dilation over time, improving outcomes, reducing long-term complications and allowing for a better prognosis.     

中国国家出生队列建设背景和设计简介

随着生活行为方式、自然和社会环境的急剧变化,育龄人口生殖健康状况持续下降,快速增加的由辅助生殖技术（ART）孕育的子代的远期健康状况亟待评估。因此,妇幼保健和生殖健康相关研究关注的重点亟需从妊娠期、围产期的死亡和严重疾病表型逐渐向全生命周期和全疾病谱拓展。为了满足这样的研究需求,在我国12个省（自治区、直辖市）启动了中国国家出生队列（China National Birth Cohort）建设,计划以家庭为单位,招募3万个自然妊娠家庭和3万个ART家庭的人群,并对夫妻双方以及孕育的子代开展长期随访,收集夫妻和子代的环境暴露、生殖生育、精神心理、行为习惯等多方面暴露数据。同时采集外周血、尿液、脐血、卵泡液和精浆、精子等多种类型的生物样本。该出生队列对于我国妇幼健康和生殖医学研究具有极其重要支撑作用和深远影响。本文即是对国家出生队列的建设概况和基本设计做简要介绍。     

中国国家出生队列研究调查对象的基线特征分析

目的 探讨生命早期环境因素、遗传因素和遗传与环境交互作用对子代近期和远期健康的影响以及系统评价和比较辅助生殖受孕和自然受孕人群的妊娠结局和子代健康相关结局。方法 中国国家出生队列（CNBC）研究是一项覆盖辅助生殖受孕家庭和自然受孕家庭的多中心前瞻性出生队列研究。2016年,CNBC项目陆续在我国12个省（自治区、直辖市）的24所医院启动,以家庭为单位纳入研究对象,并在辅助生殖治疗前、胚胎移植、孕早期、孕中期、孕晚期及分娩时以及出生后第42天、6个月、12个月、36个月多个时点采集数据信息和生物样本。结果 截至2020年6月,CNBC共纳入27 044个辅助生殖受孕家庭,29 589个自然受孕家庭,CNBC的研究人群中绝大部分为城市居民。在辅助生殖受孕家庭中,男女双方分别有65.5%和63.7%为大学及以上文化程度,年龄为（33.83±5.52）和（32.38±4.67）岁;女方83.2%为初产妇,吸烟率为0.8%,饮酒率为2.1%。在自然受孕家庭中,男女双方分别有81.5%和86.5%为大学及以上文化程度,年龄为（32.06±5.09）和（30.40±4.27）岁,女方67.2%为初产妇,吸烟率为0.1%,饮酒率为2.2%。不同地区的辅助生殖受孕家庭和自然受孕家庭的基线特征均有差异。结论 CNBC的建立将为研究生命早期遗传、环境因素、遗传-环境交互作用以及辅助生殖技术治疗相关因素对出生后子代健康的影响提供了重要资源。     

Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder

PurposeRPH3A encodes a protein involved in the stabilization of GluN2A subunit of N-methyl-D-aspartate (NMDA)-type glutamate receptors at the cell surface, forming a complex essential for synaptic plasticity and cognition. We investigated the effect of variants in RPH3A in patients with neurodevelopmental disorders.MethodsBy using trio-based exome sequencing, GeneMatcher, and screening of 100,000 Genomes Project data, we identified 6 heterozygous variants in RPH3A. In silico and in vitro models, including rat hippocampal neuronal cultures, have been used to characterize the effect of the variants.ResultsFour cases had a neurodevelopmental disorder with untreatable epileptic seizures [p.(Gln73His)dn; p.(Arg209Lys); p.(Thr450Ser)dn; p.(Gln508His)], and 2 cases [p.(Arg235Ser); p.(Asn618Ser)dn] showed high-functioning autism spectrum disorder. Using neuronal cultures, we demonstrated that p.(Thr450Ser) and p.(Asn618Ser) reduce the synaptic localization of GluN2A; p.(Thr450Ser) also increased the surface levels of GluN2A. Electrophysiological recordings showed increased GluN2A-dependent NMDA ionotropic glutamate receptor currents for both variants and alteration of postsynaptic calcium levels. Finally, expression of the Rph3A^Thr450Ser variant in neurons affected dendritic spine morphology.ConclusionOverall, we provide evidence that missense gain-of-function variants in RPH3A increase GluN2A-containing NMDA ionotropic glutamate receptors at extrasynaptic sites, altering synaptic function and leading to a clinically variable neurodevelopmental presentation ranging from untreatable epilepsy to autism spectrum disorder.