超声诊断胎儿中枢神经系统畸形的价值(英文)

背景:应用超声诊断胎儿中枢系统畸形已成为常用方法,但对胚胎发育过程中组织学特征与畸形相关性的细致研究尚不多。目的:探讨超声诊断胎儿中枢神经系统畸形的价值及畸形特征与诊断准确率的关系。设计:回顾性研究。地点、对象和方法:对美国加州一产前诊断中心5年中超声发现的148例中枢神经系统畸形的孕妇胎儿检查结果进行声像图特点分析。主要观察指标:148例中枢神经系统畸形的孕妇胎儿胎头双顶径、头围、侧脑室、延髓池、脑中线、颅骨光环、脊柱形态、羊水量超声检查结果。结果:148例中枢神经系统畸形胎儿中,无脑儿32例,脑积水31例,积水性无脑4例,脑膜或脑脑膜膨出11例,脊柱裂脊膜膨出者25例,Dandy-Walker畸形12例,前脑无裂畸形11例,脉络丛囊22例,不同类型的中枢神经系统畸形有不同声像图表现,并与其胚胎发育过程异常相关。结论:高分辨率超声能准确地发现胎儿中枢神经系统各种畸形,在胎儿中枢神经系统畸形的诊断中有重要价值。

超声诊断胎儿先天性肾脏畸形的价值(英文)

目的探讨超声诊断胎儿先天性肾脏畸形的价值。方法对美国加州一产前诊断中心5年中做产科超声的孕妇检查结果进行分析。结果发现各种肾脏畸形占58例,其中肾发育不全者4例、多囊肾8例、梗阻引起的囊样肾畸型5例、肾与输尿管重复畸形6例、异位肾6例、肾积水18例、染色体隐性遗传的多囊肾疾病3例。染色体显性遗传的多囊肾疾病2例、先天性肾小球功能异常1例、Meckel-Gruber综合征3例、Beckwith-Wiedemann综合征2例。分析各种畸形的声像图特点,不同类型肾畸形有不同声像图表现,并与其胚胎发育过程异常相关。结论泌尿系统畸形对妊娠结果有着重要的影响,特别是伴有羊水过少时,超声能准确地发现和诊断泌尿系畸形,在诊断胎儿先天性肾脏畸形中有重要价值。了解畸形的发生原因,可更好理解其预后,为临床提供准确诊断和处理依据。

Global human genetics of HIV-1 infection and China

Genetic polymorphisms in human genes can influence the risk for HIV-1 infection and disease progression, although the reported effects of these alleles have been inconsistent. This review highlights the recent discoveries on global and Chinese genetic polymorphisms and their association with HIV-1 transmission and disease progression.

欧洲裔美国妇女中母体肿瘤坏死因子-α、肿瘤坏死因子受体、IL-6和IL-6受体基因的多位点交互作用预测自发性早产

Objective: We hypothesize that genetic variations (single nucleotide polymorphisms-SNPs) in the tumor necrosis factor-α(TNF-α), TNF receptors (TNFRI and TNFRII), interleukin-6 (IL-6) and IL-6 receptor (IL-6R) genes predict high-risk status for spontaneous preterm birth (sPTB) in European-American women. In this study we examine the allelic and genotypic variations and the gene-gene interactions in the TNF-α, TNFRs, IL-6, and IL-6R genes in maternal DNA samples by using a case-control model. Study design: Maternal DNA from cases of sPTB after preterm labor (n = 101) and controls (normal term labor and delivery) (n = 321) were genotyped for SNPs in the TNF-α(6), TNFRI (6), TNFRII (7), IL-6 (5), and IL-6R (3) loci. SNPs were tested for both allele and genotype differences (cases vs controls) with the use of standard genetic epidemiologic methods. Multilocus interaction was assessed with multifactor dimensionality reduction analysis (MDR) to test all single and multilocus combinations for the ability to predict sPTB. Results: Few significant allelic and genotypic associations were detected between cases and controls in maternal DNA. Single locus analysis documented independent association of SNPs at-7294 (allele and genotype) of TNFRI and 24660 (genotype) TNFRII loci with sPTB. MDR revealed a significant 3 locus model that includes SNPs -3448 of TNF-α,-7227 of IL-6, and 33314 of IL-6R. This interactive model allowed the successful prediction of pre-to low-risk genotypes is 3.50 (95%CI 2.52-4.87, P < .001). Conclusion: This is the first report to document a multilocus interaction in sPTB that predicts 65.2%of the cases in a European-American sample. Although putatively significant associations with sPTB were seen at a few single locus sites in TNFRI and TNFRII, they were not as predictive as the 3-locus model produced by MDR, suggesting the use of multilocus analyses in gene association studies of complex disease such as sPTB.

Changes in fetal mannose and other carbohydrates induced by a maternal insulin infusion in pregnant sheep

Background： The importance of non-glucose carbohydrates, especially mannose and inositol, for normal development is increasingly recognized. Whether pregnancies complicated by abnormal glucose transfer to the fetus also affect the regulation of non-glucose carbohydrates is unknown. In pregnant sheep, maternal insulin infusions were used to reduce glucose supply to the fetus for both short （2-wk） and long （8-wk） durations to test the hypothesis that a maternal insulin infusion would suppress fetal mannose and inositol concentrations. We also used direct fetal insulin infusions （1-wk hyperinsulinemic-isoglycemic clamp） to determine the relative importance of fetal glucose and insulin for regulating non-glucose carbohydrates. Results： A maternal insulin infusion resulted in lower maternal （50%, P 〈 0.01） and fetal （35-45%, P 〈 0.01） mannose concentrations, which were highly correlated （r^2 = 0.69, P 〈 0.01）. A fetal insulin infusion resulted in a 50% reduction of fetal mannose （P 〈 0.05）. Neither maternal nor fetal plasma inositol changed with exogenous insulin infusions. Additionally, maternal insulin infusion resulted in lower fetal sorbitol and fructose （P 〈 0.01）. Conclusions： Chronically decreased glucose supply to the fetus as well as fetal hyperinsulinemia both reduce fetal non-glucose carbohydrates. Given the role of these carbohydrates in protein glycosylation and lipid production, more research on their metabolism in pregnancies complicated by abnormal glucose metabolism is clearly warranted.

临床实践中的STAN:哥德堡市2年定期应用的结果

Objective: The purpose of this study was to monitor the introduction of the STAN-methodology(Noventa Medical, Moelndal, Sweden). Study design: This was a prospective observational study covering the total population of deliveries at term during 2 years. Four thousand eight hundred and thirty out of 14,687 term pregnancies were monitored using the STAN S 21 fetal heart monitor and the associated clinical guidelines. Cord artery metabolic acidosis, neonatal outcome, and rates of operative deliveries for fetal distress were assessed. Results: The annual rate of STAN usage increased from 28.1%to 37.7%and was associated with a significant reduction in metabolic acidosis rate in the total population from 0.76%to 0.44%(P < .05). The compliance with the clinical guidelines increased in cases requiring intervention. The rates for moderate/severe hypoxic neonatal encephalopathy were consistently low, 0.55 and 0.68 per 1000 deliveries, respectively, and corresponding to previous findings. The rate of operative delivery did not change during the 2 years in the total population. Conclusion: Increasing STAN usage provided consistent improvements in fetal outcome equalling those noted in the Swedish randomized controlled trial(RCT) without increasing operative interventions for fetal distress.

巨细胞病毒感染病例分娩期的胎心监护

Objective Several studies have shown that abnormal intrapartum fetal heart rate patterns are the results from preexisting fetal brain damage. We evaluated intrapartum fetal heart rate pattern of cytomegalovirusinfected fetuses and correlated the patterns with neurologic outcomes. Study design Between 1991 and 2001, there were 20 cytomegalovirusinfected fetuses. We selected 40 fetuses as control subjects that were matched for gestational age and birth weight. Fetal heart rate was interpreted according to the guidelines of the National Institute for Child and Human Development. The incidence of abnormal fetal heart rate pattern and umbilical blood gases were compared between both groups. We also investigated the factors that contributed to abnormal fetal heart rate pattern in the cytomegalovirus group. Results Nonreassuring fetal heart rate patterns (prolonged deceleration and recurrent late deceleration) were observed in 8 of 20 fetuses (prolonged deceleration, 7 fetuses; recurrent late deceleration, 1 fetus) in the cytomegalovirus group and in 3 of 41 fetuses (prolonged deceleration, 1 fetus; recurrent late deceleration, 2 fetuses) in the control group (P<.05, Fisher test). Baseline fetal heart rate variability was minimal in 4 of the 7 prolonged deceleration cases in the cytomegalovirus group. Umbilical pH < 7.1 was found for 1 fetus in the cytomegalovirus group. The average umbilical arterial pH values were similar in both the groups. In the cytomegalovirus group, there were no differences in the incidence of contributing factors between 8 fetuses with abnormal fetal heart rate pattern (prolonged deceleration and recurrent late deceleration) and 8 fetuses with no change. There were 3 fetuses with cerebral palsy: 2 fetuses in the no change group and 1 fetus in the prolonged deceleration group. Antigenemia was positive exclusively in 4 cases with abnormal fetal heart rate pattern (P<.05). Conclusion Cytomegalovirusinfected fetuses are more likely to show abnormal intrapartum fetal heart rate patterns than lowrisk control fetuses, which suggests that the perinatal detection of cytomegalovirus is necessary to distinguish hypoxicischemic encephalopathy.

唾液蛋白酶活性:胎膜早破(PROM)的一个潜在生物学标记物

Objective: The objective of this study was to design a method to identify patients at risk for preterm premature rupture of the membranes using a simple assay of salivary proteinase activity. Study design: Saliva samples were collected from women in the following groups using Salivette: (1) nonpregnant control; (2) during the second trimester of pregnancy; (3) during active labor at term; (4) women with premature rupture of the membranes before preterm delivery; and (5) postpartum (within 3 hours after delivery at term). Total proteolytic activity in saliva samples was measured by fluorometry using the generic substrate DQ-gelatin in the presence of specific inhibitors to selectively detect matrix metalloproteinase activities. The concentrations of various matrix metalloproteinases in saliva samples were also measured by multiplex bead assay using the Luminex platform. Results: All saliva samples exhibited detectable matrix metalloproteinase activity. Salivary matrix metalloproteinase activity is low in nonpregnant females (0.27 ± 0.15) and increases in samples taken in the second trimester (0.5 ± 0.5) and at term during active labor (1.03 ± 1.2). Samples collected from women with premature rupture of the membranes before preterm delivery had the highest activity (2.5 ± 3.7) followed by postpartum after normal term delivery (2.1 ± 1.6). The matrix metalloproteinase activity was higher in premature rupture of the membranes before preterm delivery samples, compared with all other stages of pregnancy. Multiplexmatrix metalloproteinase assay documented a significant increase in total matrix metalloproteinase- 9 concentration in saliva from premature rupture of the membranes before preterm delivery, compared with any of the other groups. Similarly matrix metalloproteinase-9 activity was also significantly increased in premature rupture of the membranes before preterm delivery group, compared with all others. Conclusion: Herein we report a simple test to monitor proteolytic enzyme activity in saliva during pregnancy. The highest matrix metalloproteinase activity is seen in premature rupture of the membranes before preterm delivery and postpartum samples. Ongoing studies aim to further define salivary proteinase activity in patients at high risk for premature rupture of the membranes before preterm delivery and to evaluate its potential as a predictive test for premature rupture of the membranes before preterm delivery.

胎膜早破后肺发育不全综合征患儿的呼吸系统特征:为建立临床诊断标准所作的初步研究

背景:目前对于肺发育不全的诊断多基于尸检报告,临床上没有明确的诊断标准用于对该病的识别及处理。目的:通过描述胎膜早破后肺发育不全综合征(PHS)的呼吸系统状态的特点,以协助建立其临床的诊断标准。研究设计:对6例患有典型PHS的患儿及6例患有湿肺综合征(WLS)患儿的呼吸系统特点进行回顾性对比。研究对象:PHS及WLS患儿是由6年中进入新生儿三级护理单元的1094例患儿中选出的,选择标准建立在围生期纪录、呼吸系统表现、X线片、实验室检查结果及呼吸机的基础上。结果测量参数:进行对比的参数包括:由胸片上肺的大小计算得的肺容量系数(LVI), 通气系数(VI),通气效率系数(VEI),对人工表面活性剂的反应及供氧天数。结果:相对于WLS患儿而言, PHS患儿的LVI较低(4.5±0.5 vs 9.5±1.5,P【 0.01),VI较高(0.108±0.030 vs 0.022±0.005,P【 0.05),VEI较低(0.083±0.012 vs 0.258±0.052,P【 0.01)。有4例PHS患儿应用了人工表面活性剂,但呼吸系统功能都没有得到改善。3例存活的PHS患儿的供氧天数为11-79 d,而WLS患儿的为2-14 d。结论:该研究表明低的LVI(【6.5)和VEI(【0.15)对诊断PHS 最有意义。

新生儿心输出血量的脑分布

Cerebral blood flow and output of the left ventricle were simultaneously investigated in 17 infants using multichannel near infrared spectroscopy and pulse dye densitometry with indocyanine green. Cardiac output and cerebral blood flow were positively related. The control of cardiac output is important in the regulation of cerebral blood flow in infants.

早产儿脑性瘫痪的危险因素研究

Objective: To identify crucial factors that precipitate cerebral palsy by controlling confounding factors in logistic regression analyses. Design and patients: We retrospectively investigated a cohort of all 922 infants with gestational ages of less than 34 weeks (22-33 weeks), who were admitted to our neonatal intensive care unit between 1990 and 1998. Thirty (3.7%) were diagnosed to have cerebral palsy. We analyzed the prenatal and postnatal clinical variables of the cerebral palsy cases and compared them with 150 randomly selected controls. Results: Risk factors for cerebral palsy identified in univariate analysis were: twin pregnancy, long-term ritodrine tocolysis, respiratory distress syndrome, air leak, surfactant administration, intermittent mandatory ventilation, high frequency oscillation, lowest PaCO2 levels, prolonged hypocarbia during the first 72 h of life, and postnatal steroid therapy. In a conditional multiple logistic model, long-term ritodrine tocolysis, prolonged hypocarbia and postnatal steroid therapy remained associated with an increased risk of cerebral palsy after adjustment for other antenatal and postnatal variables (OR Odds Ratio =8.62, 95%CI Confi-dence Interval , 2.18-33.97; OR=7.81, 95%CI, 1.42-42.92; OR=21.37, 95%CI, 2.01-227.29, respectively). Conclusions: Our results suggest that long-term ritodrine tocolysis underlines the development of cerebral palsy. Further assessments of the effect of ritodrine on fetal circulation and nervous system are required. Moreover, possible alternatives to systemic postnatal steroids are needed, and carbon dioxide levels should be more strictly controlled.

孕32周前宫颈功能不全的预后

Objective: To identify prenatal events associated with adverse outcome in babies at less than 32 weeks of gestation in cases of cervical insufficiency and preterm labor (PTL)/premature rupture of the membranes (PROM). Study design: A case-control study was performed using a logistic regression model at 17 tertiary hospitals in Japan. Adverse outcome was defined as neonatal death or abnormal cerebral ultrasound scans (intraventricular hemorrhage [IVH] and periventricular leukomalacia [PVL]) prior to discharge from hospital. Results: Data were analyzed for 307 cases (74 for cervical insufficiency and 233 for PTL/PROM). Neonatal death and IVH/PVL were noted in 25 and 29 cases, respectively. A significant association of cervical insufficiency (odds ratio (OR) 1.32, 95% confidence interval (CI) 1.02- 1.68), gestational age at delivery ( < 26 weeks) (OR 4.64, 95% CI 1.73- 12.44),and Apgar score < 7 at 5 min (OR 3.3, 95% CI 1.42- 7.64) with combined neonatal death or IVH and PVL was found in a logistic regression model that controlled for in utero transportation, gestational age on admission, clinical chorioamnionitis, and histopathologic chorioamnionitis. Conclusion: Cervical insufficiency is a significant factor related to the occurrence of adverse outcome.

Roles of Setbp1 in developmental hematopoiesis and acute myeloid leukemia

Gain-of-function somatic mutations of SET binding protein 1(SETBP1)result in the accumulation of SETBP protein and are detected in 17%of secondary acute myeloid leukemia(AML)patients.1 In fact,high expression of SETBP1 also drives adverse outcomes in human AML.However,the roles of SETBP1 during developmental hematopoiesis and AML progression are still not fully understood.Here we first sought to investigate the functions of SETBP1 in developmental hematopoiesis.

早产儿营养的最优化

早产儿营养补给的目标是使早产儿能够达到同胎龄健康胎儿的正常生长速率,并且在器官生长、组织成分、以及细胞数量和结构方面也能达到健康胎儿水平。营养物质的数量与质量对于早产儿的正常生长发育、包括神经系统发育是至关重要的。基本营养素的供给不足不仅会造成生长受限,而且会增加病死率或影响神经发育结局。早产儿在NICU住院期间的生长速率在神经发育及整个人体发育的结局中发挥了重要作用。尽管对于最佳营养的需求非常明显,但早产儿生长落后的例子比比皆是。因此,根据总的能量及蛋白质需求以及个体成分如氨基酸、碳水化合物及脂肪,甚至细化到氧气的需求来优化早产儿的营养是非常必要的。该综述阐述了早产儿科学合理的营养需求、具有实用性的营养指南以及早产儿静脉营养、肠内营养的方法步骤。包括氨基酸在内的静脉营养,应该从一出生便按照相应胎龄所适合的速率开始补充。肠内营养则应在出生后尽早开始,首选母亲的初乳和牛奶。肠内营养应根据热能需要开始建立并在能耐受的范围内快速增加,保持营养摄入在推荐速率的同时相应地减少静脉营养摄入量。制定一个合理的喂养方案对于改善营养状况及相关的转归是重要的。什么是早产儿的最佳营养和生长速率尚有待于进一步的研究来确定,这种最佳营养不仅能使早产儿神经认知得到最充分的发育,同时还要最大程度地限制其远期发生慢性疾病的风险。