桩顶荷载对桩基负摩阻力特性的影响

比较了在桩顶荷载作用下的负摩阻力特性与无桩顶荷载时的差异,指出不考虑桩顶荷载的中性点位置最低,下拽力最大。分析结果表明,当有桩顶荷载作用时,中性点的位置明显高于无桩顶荷载时,下拽力也明显小于无桩顶荷载时,而且随着桩顶荷载的增加,中性点上移和下拽力减小的趋势也很明显;桩顶荷载较小时,负摩阻力对于桩基沉降的影响基本上是线性的;在桩顶荷载作用下,长桩比短桩的中性点位置和下拽力的变化都小些,这对桩基负摩阻力特性的研究是有益的。     

环境砷中毒人群皮肤损害与DNA氧化损伤的关联性

选择内蒙古自治区某县长期暴露于高砷饮用水的人群中有皮肤损害者199人(病例组)和无皮肤损害者91人(对照组)作为研究对象,检测饮用水砷、尿砷和DNA氧化损伤的主要标志物8-羟基脱氧鸟苷(8-OHdG)水平,以分析慢性砷中毒人群DNA氧化损伤与皮肤损害的相关性.结果表明,砷性皮肤损害组和无皮肤损害组人群尿中8-OHdG水平的中位数(四分位间距)分别为4.9(3.5~6.3)μg/g和5.3(4.1~7.2)μg/g,2组对象尿中8-OHdG水平间差异无统计学意义(P=0.074);多元Logistic回归分析结果显示,在校正了年龄、体质指数(BMI)、吸烟、饮酒和饮用高砷水时间等可能的混杂因素后,皮肤损害组人群尿中8-OHdG水平升高的比值比(OR)为1.1(95%CI:0.6,1.9),提示在砷暴露人群中,有无皮肤损害与8-OHdG水平的差异无统计学意义(P=0.863).慢性砷中毒人群皮肤损害与体内的DNA氧化损伤之间无显著的关联性,无皮肤损害人群同样有DNA氧化损伤的风险.     

DINP皮肤暴露对小鼠过敏性皮肤炎症的佐剂作用

为了探究新型增塑剂邻苯二甲酸二异壬酯(DINP)对小鼠过敏性皮肤炎症的影响,采用皮肤染毒的暴露方式,56只SPF级雄性Balb/C小鼠随机平均分为7组处理40d.用0、1.4、14和140mg/kg DINP对小鼠进行皮肤染毒,并用抗氧化剂褪黑素设置2组来探究氧化应激的介导作用,以及1组生理盐水对照组.染毒结束后取耳组织测定耳肿指数和双耳重量差,并制作耳组织病理学切片,最后检测氧化应激指标.实验结果显示, 14和140mg/kg DINP皮肤暴露组的皮肤炎症有明显加剧(P<0.01),氧化应激指标也有明显变化(P <0.01).这表明,一定浓度的DINP,经较长时间的暴露,对小鼠过敏性皮肤炎症具有明显的佐剂作用.并且,随着DINP浓度升高,小鼠机体氧化应激过度活化,造成机体组织或细胞的氧化损伤,并加剧了炎症反应.     

Prenatal diagnosis for Epidermolysis bullosa: a study of 144 consecutive pregnancies at risk

Epidermolysis bullosa (EB) is a group of inherited disorders characterized by increased skin fragility, resulting in blisters and erosions after minor trauma. Mutations in 10 structural genes expressed in the cutaneous basement membrane zone have been reported. The DebRA Molecular Diagnostics Laboratory at Jefferson Medical College has performed 144 DNA-based prenatal diagnoses since 1993 in families at risk for recurrence of the most severe forms of EB, including the recessive dystrophic EB (RDEB), junctional EB (JEB), EB with pyloric atresia (EB-PA), and EB simplex (EBS). A mutation-detection strategy using either conformation-sensitive gel electrophoresis (CSGE) or denaturing high-performance liquid chromatography (dHPLC) scanning analysis, followed by nucleotide sequencing, was applied to most cases with DEB and to all JEB, EB-PA, and EBS families. For some RDEB families, linkage analysis was performed, either alone when the inheritance pattern was clear or in combination with one mutation. Among the 144 prenatal diagnoses, 63 were for RDEB, 69 for JEB, 6 for EB-PA, and 6 for EBS. Twenty-eight normal, 73 heterozygous carrier, and 28 affected RDEB, JEB, and EB-PA pregnancies were reported in these recessively inherited diseases. Two affected and four normal pregnancies were predicted in dominantly inherited EBS. Among the 144 pregnancies, 9 were terminated without confirmation, 13 cases were lost to follow-up, and 6 pregnancies are ongoing. There were 6 families with inconclusive results due either to recombination events between flanking markers, absence of informative markers for one allele, or lack of sample from the previously affected child. There were three discordant results, one that was explained by maternal contamination of the chorionic villus sample and two that were unresolved. Overall, the availability, relative ease, and over 98% success rate make molecular DNA-based prenatal diagnosis a viable option for EB families at risk. Copyright © 2003 John Wiley & Sons, Ltd.     

Prenatal ultrasonic diagnosis of familial asymmetric septal hypertrophy

Hypertrophic cardiomyopathy usually manifests clinically in the second or third decade of life. Two dimensional echocardiography is a reliable indicator of the presence of the disease. This technique is of use in the screening of fetuses at risk for familial cardiomyopathy. This report describes the prenatal echocardiographic detection of hypertrophic cardiomyopathy in the fetus of a mother with hypertrophic cardiomyopathy localized to the apical region of the left ventricle.     

Prenatal diagnosis,fetal pathology and cytogenetic analysis of A 46,XX/47,XX, + 15 mosaic

Mosaic trisomy 15 was prenatally diagnosed on amniotic fluid cells from two consecutive amniocenteses and was confirmed on cells from five different fetal tissues. The proportion of normal versus trisomic cells was consistently higher in the amniotic cell cultures and-with one exception-in the fetal tissues, while serial subcultures gave different results. The slightly atypical external features and internal malformations of the affected fetus as compared to the only clinical observation from the literature are not unusual enough to allow the delineation of a specific malformation pattern.     

Duchenne muscular dystrophy associated with fetal pleural effusion and polyhydramnios

A case of fetal pleural effusion in a fetus affected with Duchenne muscular dystrophy (DMD) is reported. This case is discussed in the context of the previous observation of frequent stillbirths among male fetuses in DMD families.     

Determination of maternal serum acetylcholinesterase in pregnancies with fetal neural tube defects

We have investigated the occurrence of acetylcholinesterase (AChE) (E.C.3.1.1.7) in fetal serum, amniotic fluid and maternal serum using an immuno-chemical assay-technique employing both polyclonal and monoclonal antibodies. Fetal serum had increased amounts of AChE, which is due to an increase in the 10.5S form of the enzyme. This form was also found in amniotic fluids of pregnancies with a fetal neural tube defect (NTD), but not in normal amniotic fluid. The increase in amniotic fluid AChE was however, not reflected in the maternal serum.     

Possibility of prenatal diagnosis of hereditary triose phosphate isomerase deficiency

Prenatal diagnosis has been performed on umbilical cord blood of an 18 weeks fetus of heterozygous triosephosphate isomerase (TPI) deficient parents. After excluding maternal blood contamination, TPI activity was measured and found to be 60 per cent of the normal mean whereas the value of glucose-6-phosphate dehydrogenase activity was in the normal range of fetal blood. In addition, the analysis of the characteristics of fetal TPI, i.e. K_m measurements for glyceraldehyde-3-phosphate, heat stability tests and electrophoretic studies, did not show any evidence of a special form of TPI in fetal blood. These results were consistent with the heterozygous state and were confirmed at birth.     

Amniotic fluid enzymes in pregnancies with trisomy 21

The activities of a range of microvillous enzymes in amniotic fluid from normal pregnancies (n = 213) and those complicated by trisomy 21 (n = 26) were compared in a prospective study. Using a centrifugal analyser, the activities of leucine aminopeptidase (LAP), gamma glutamyl transferase (GGT), aspartate transferase (AST), and isoenzymes of alkaline phosphate (ALP) were measured in amniotic fluid alongside alpha fetoprotein (AFP) levels. Of the markers studied, LAP was found to be the most reliable indicator of trisomy 21. Using levels below the 5th percentile, LAP showed sensitivity 73 per cent, specificity 94 per cent, and predictive value positive 63 percent. Although these tests would not replace karyotyping in all cases, the measurement of LAP could be useful as a rapid initial screening test, particularly when amniocentesis is performed for indications other than chromosomal abnormalities.