Cleft palate: Confirmation of prenatal diagnosis by colour Doppler ultrasound

We present a case of a twin with trisomy 47,XX+i(9p) in whom the diagnosis of cleft palate was confirmed by colour Doppler imaging demonstrating abnormal fluid flow across the fetal pharyngeal bone defect. Application of this technique in cases predisposed for this congenital lesion may prove beneficial in the diagnosis of the more subtle types of isolated cleft palate.     

Asymptomatic carrier of two CFTR mutations: Consequences for prenatal diagnosis?

The cystic fibrosis (CF) gene has been observed to have the highest frequency of mutations in the Caucasian population. Prenatal diagnosis can now be performed with a high degree of accuracy since the identification of most of the gene's mutations, as well as the characterization of intragenic markers. However, the observation of a distribution of clinical phenotypes increases the need to identify a mild phenotype and avoid false-negative diagnosis. By screening most of the exons of the CFTR gene, we showed that a supposed obligate carrier of CF was in fact an asymptomatic affected woman.     

测土配方施肥对湖北省N2O减排的贡献

为弄清测土配方施肥项目实施后对氧化亚氮(N_2O)排放产生的影响及其带来的经济效益.本研究通过比较传统施肥和测土配方推荐施肥的农田氮(N)投入量,依据《2006年IPCC国家温室气体清单指南》方法,分别估算了农田N_2O的直接排放和间接排放.结果表明,测土配方施肥项目从2004年开始实施至2013年的10年时间里,共减少氮肥的施用量74.39×104t(折纯N),作物产量增加1898.05×104t;10年里共减少N_2O排放总量为2.24×104t,其中由氮肥施用量减少带来的N_2O减排量为1.57×104t,作物产量提高带来的N_2O减排量为0.67×104t;湖北省不同区域的N_2O减排量与该地区项目实施面积密切相关,项目实施10年来襄阳市N_2O减排总量最大,为0.31×104t,其次是荆州市,减排量为0.26×104t,神龙架林区N_2O减排总量最小,仅为0.0034×104t;不同作物对N_2O减排的贡献以玉米减排总量最大,为0.54×104t,占减排总量的24.17%,其次为水稻,减排量为0.49×104t,芝麻减排总量最小,仅0.018×104t.按照湖北省碳交易市场最新交易价格25元·t-1C来计算,湖北省实施测土配方施肥项目10年来仅N_2O减排所带来效益可达1.74亿元.测土配方施肥项目不仅在湖北省粮食增产上有重要贡献,对减少N_2O排放也有重要贡献,并带来一定的经济效益.     

Prenatal diagnosis of giant cystic hygroma: Prognosis,counselling, and management; case presentation and review of the recent literature

Cystic hygromas have historically been associated with a grim prognosis when discovered during prenatal sonographic study of the fetus. This same grim prognosis is not observed by the paediatric surgeon who evaluates the neonate or paediatric patient. We present a fetal patient with a massive anterior cystic hygroma discovered in the third trimester prior to 30 weeks. This case and a review of the literature suggest tailoring the prognosis by category when counselling patients: (1) first trimester, normal karyotype-good; (2) first trimester, abnormal karyotype-poor; (3) second trimester and early third-poor to guarded; and (4) mid to late third trimester-good.     

直升机尾部结构疲劳及缺陷容限试验装置研制及应用

目的 获得尾部结构的疲劳寿命和检查周期,满足民用直升机适航验证要求,保证飞机的飞行安全,开展复合材料尾部结构疲劳及缺陷容限试验技术研究。方法 介绍了尾部结构疲劳及缺陷容限试验专用试验台、气动冲击设备、柔性自动特征扫描成像无损检测系统等的设计及研制,采用研制的成套试验装置,实现尾部结构试验件连接约束和载荷边界的全面真实模拟、复杂载荷谱的精确控制、冲击损伤缺陷预制及缺陷自动识别与检测。结果 经试验验证,载荷误差小于2%,冲击能量误差小于2%,缺陷检测误差小于1 mm,各项指标都满足项目研究目标和技术指标要求。结论 研究成果在民用直升机研制中得到了成功应用,可为后续其他直升机尾部结构疲劳及缺陷容限疲劳试验提供良好的借鉴,具有重要的工程应用价值。     

某试验场土壤重金属分布特征及其污染评价

试验场重金属污染是广受关注的环境问题之一.选取吉林某试验场的静爆试验区、落弹区和生活保障区作为研究对象,检测了112个表层土壤样品及两个土壤剖面中的重金属(As、 Cd、 Cr、 Cu、 Ni、 Pb和Zn)含量,分析了重金属分布特征并对其进行了源解析,采用多个污染指数评价法对重金属的污染程度及潜在生态风险进行了研究.结果表明,静爆试验区土壤中As、 Cd、 Cu、 Ni和Zn含量的平均值高于吉林省背景值,且Cu、 Zn、 As和Cd含量表现出较强的空间异质性;落弹区土壤中As、 Cd和Ni含量的平均值超出背景值;生活保障区土壤中As和Cd含量的平均值高于背景值,并且Pb、 Cd、 Zn和Cr变异系数较强,表明其可能受到人类活动的影响.在不同的试验区,土壤中As、 Cr、 Cu、 Ni和Zn含量具有显著差异(P<0.05),静爆试验区较落弹区受到试验活动影响更为强烈,土壤剖面表层重金属含量明显偏高,土壤剖面中重金属未发生明显垂向迁移.多元统计和APCS-MLR源解析分析表明,Zn、 Pb和Cd主要受到试验活动相关的污染源影响,Cr和Ni主要受成土母质自然源影响,As和Cu来源较为...     

The BOR syndrome and renal agenesis-prenatal diagnosis andfurther clinical delineation

This is the first report of prenatal diagnosis of a fetus with brachio-oto-renal dysplasia (BOR) syndrome with right-sided renal agenesis and severe left hypoplasia. The father of this fetus had malformed external ears, a left-sided preauricular pit and branchial cyst, and bilateral mild to moderate deafness without a demonstrable renal anomaly. This family highlights the variable expressivity seen in the autosomal dominant BOR syndrome, the importance of genetic counselling for families with BOR syndrome, and the aetiologic heterogeneity of renal agenesis.     

An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue

While the fetus and placenta have a common ancestry, chorionic villus tissue does not always reflect fetal genotype. Data are presented from 15 CVS subjects in whom cytogenetic inconsistencies were observed when comparing (1) cultured chorionic villi, (2) direct chromosome preparations of intact villi, and (3) cultured fetal tissue. Embryogenic models are presented to explain these discrepancies. Mosaicism confined to direct chromosome preparations was the most commonly observed inconsistency. This can be explained by postzygotic non-disjunction limited to cytotrophoblast. In all but one instance, the abnormal cell line was limited to the placenta, with the normal cell line reflecting fetal genotype. Analysis of direct chromosome preparations from multiple individually processed villus fragments may be helpful in recognizing mosaicism confined to the placenta. While both direct chromosome preparations and villus cultures can be misleading, the latter are more likely to reflect fetal genetic status since they are derived from the extraembryonic mesoderm.     

HLA-A,B,C,DR typing and 17-OHP determination for second trimester prenatal diagnosis of 21-hydroxylase deficient CAH

In 18 families at risk for the HLA-linked, 21-hydroxylase deficient form of autosomal recessive congenital adrenal hyperplasia (CAH), prenatal diagnosis (PD) was performed using two methods: (1) HLA-A,B,C typing and in the latter 11 cases also DR typing of cultured amniotic fluid cells (AFC) using the standard microcytotoxicity assay, and (2) measurement of second trimester amniotic fluid 17-hydroxyprogesterone (17-OHP) concentration using gel chromatography and radioimmunoassay. The accuracy of the prenatal predictions was confirmed by postnatal HLA typing of umbilical cord blood lymphocytes and by clinical evaluation. In 16/18 families, both HLA typing of AFC and 17-OHP measurements proved informative for PD. The predictions of both methods were concordant in 14/16 families (88 per cent). In ten of these families, a normal fetus was predicted, and in four, an affected fetus; all pregnancies were carried to term and all predictions were confirmed postnatally. In 2/16 cases (12 per cent), however, the predictions were discordant: the prenatal HLA typing indicated an affected fetus, whereas the 17-OHP values predicted a normal fetus. Both pregnancies were continued and two healthy boys were delivered. The discordance proved to be due to a ‘missed’ HLA antigen in one case and to serologically cross-reactive HLA antigens in the second. Finally, in 2/18 cases, prenatal assessment of fetal genotype had to rely on HLA typing alone as 17-OHP measurement was not performed in one family and in the second family the 17-OHP values obtained were not informative due to inadvertent continuation of hormone therapy to the date of amniocentesis. In both cases, the HLA typing data accurately predicted a normal fetus. In conclusion, a combination of HLA typing of cultured AFC and 17-OHP measurements of amniotic fluid permits accurate prenatal diagnosis of CAH in most cases (88 per cent). In addition, the supplementary use of HLA-DR typing of AFC as presented here for the first time proved helpful in families with HLA-A.B homozygosity due to parental sharing of antigens and can be informative for identifying HLA-B/21-OH recombinant haplotypes.     

Prenatal ultrasound diagnosis of the Holt-Oram syndrome

The Holt-Oram syndrome is an autosomal dominant disorder consisting of a congenital heart defect in combination with characteristic upper limb abnormalities. This report presents the ultrasonographic follow-up of two fetuses at risk for the Holt-Oram syndrome. In the first fetus, the existence of Holt-Oram syndrome was suspected at 22 weeks of gestation; a ventricular septal defect, an atrial septal defect, and a minor skeletal defect were found. In the second fetus, no structural abnormalities were discovered until the 30th week, when a small atrial septal defect was detected. In both pregnancies, it was possible to exclude early in gestation the more severe forms of the Holt-Oram syndrome.