Promises and pitfalls of first trimester sonographic markers in the detection of fetal aneuploidy

First trimester sonographic markers are the only markers achieving detection rates above 50% in the prenatal detection of fetal aneuploidy. Although potentially they are the best markers, some concerns have arisen about its clinical application. Pitfalls may be due to inability to examine the markers, incorrect assessment, or incorrect interpretation of the findings. Markers may be unable to be examined due to maternal (maternal body habitus, previous surgery) or fetal reasons (incompatible fetal position or fetal movements). Causes of incorrect interpretation may be insufficient image magnification, incorrect caliper placement (nuchal translucency), incorrect insonation angle (nasal bone), venous contamination (ductus venosus), or arterial contamination (tricuspid regurgitation), among others. Venous contamination in ductus venosus waveforms may mimic an abnormal blood flow when it is normal, and the opposite can also occur. Finally, incorrect interpretation of a substantially increased nuchal translucency may lead to a false impression of an ominous fetal prognosis or may be confounded with a cystic hygroma. Copyright © 2008 John Wiley & Sons, Ltd.     

Infantile hypophosphatasia: Successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations

We successfully assessed a fetus at risk for lethal infantile hypophosphatasia using amniocyte DNA and allele-specific oligonucleotide (ASO) probes for two missense mutations in the tissue-non-specific alkaline phosphatase isoenzyme (TNSALP) gene. The nucleotide changes had been discovered in a sister who died at 8 months of age from this inborn error of metabolism. The mother was known to carry the 747 (cDNA) G→A transition, whereas her husband and 5-year-old daughter, who were also healthy, carried the 1309 A→T transversion. Amniocytes, obtained at 16 weeks' gestation, provided genomic DNA for polymerase chain reaction (PCR) amplification of the appropriate TNSALP gene exons. ASO hybridization revealed absence of the 747A mutation and presence of the 1309T base change in the fetus, indicating a carrier for hypophosphatasia. At 8 months of age, the offspring was in excellent health and without any radiological evidence of skeletal disease. His serum ALP activity and plasma pyridoxal 5′-phosphate level were decreased and increased, respectively, at levels consistent with the prenatal assessment. The ASO studies were confirmed postnatally using peripheral blood leukocyte DNA. This is the first application of direct mutational analysis to assess a fetus at risk for hypophosphatasia.     

慢性铝暴露致大鼠骨与软骨损伤胶原途径的动态分析

为了探讨慢性铝暴露致大鼠骨与软骨损伤胶原途径的机制及胶原代谢水平,实验将100只4周龄清洁级Wistar大鼠随机均分成染铝组(430mg·L-1Al3+)与对照组(蒸馏水),通过饮水染铝,每隔30d处死染铝大鼠和对照大鼠各10只,设立5个观测点,最长染铝时间为150d.同时,用电子秤每30d称大鼠体重1次;用火焰原子吸收分光光度法测定血清、骨与软骨中铝含量;用固相夹心ELISA法检测血清中Ⅰ型前胶原羧基末端前肽(PICP)、Ⅰ型胶原C末端肽(CTX-Ⅰ)、Ⅱ型胶原(collagenⅡ)和Ⅱ型胶原C末端肽(CTX-Ⅱ)含量.结果表明,大鼠铝中毒模型复制成功;随着铝暴露时间的延长,染铝组大鼠体重在染铝60d后显著低于对照组(p0.01);染铝组血清、骨与软骨中铝含量逐渐升高,显著高于对照组(p0.01);PICP、Ⅱ型胶原合成量呈逐渐下降趋势,且显著低于对照组(p0.05,p0.01);CTX-Ⅰ和CTX-Ⅱ含量持续维持在高水平,分别在铝暴露90d、60d后显著高于对照组(p0.01).说明长时间铝暴露可致铝在骨与软骨中蓄积,并使骨与软骨中结构性胶原减少,引发骨与软骨损伤.     

Heavy metal pollution in soil and plants at bone char site

This study determined the heavy metal concentration in soil and plants at a bone char site in Umuahia, Nigeria. Soil and plant samples collected in a randomized complete block design (RCBD) were analyzed for zinc (Zn), lead (Pb), cadmium (Cd), nickel (Ni), and arsenic (As). The concentration of metals in soil and plants in the vicinity of the bone char site are as follows: Zn (172?mg?kg^?1) and Ni (0.62?mg?kg^?1) in soil were highest at site P₃, Pb (2.37?mg?kg^?1) and As (0.08?mg?kg^?1) at site P₁, and Cd (18.30?mg?kg^?1) at site P₂. In plants, the concentrations of Zn (41.17?mg?kg^?1) and Cd (3?mg?kg^?1) were highest in Albizia ferruginea, Ni in Dialium guineense (0.09?mg?kg^?1), while Pb was in D. guineense (0.08?mg?kg^?1) and Spathodea companulata (0.06?mg?kg^?1). The levels of Zn, Cd, Pb, Ni, and As in soil ranged from 11.2 to 172, 2.68 to 18.2, 0.026 to 2.37, 0.33 to 0.62, and 0.02 to 0.08?mg?kg^?1, respectively. In plants, the concentration of Zn, Cd, Pb, and Ni ranged from 2.01 to 41.17, 0.12 to 3, 0.02 to 0.08, and 0.03 to 0.09?mg?kg^?1, respectively. There were significant correlations between Zn and Cd, and Pb and As in soil. The high concentration of Cd in soil might affect soil productivity.     

骨炭对Pb(Ⅱ)的吸附特性

通过间歇实验研究了骨炭对重金属Pb(Ⅱ)的吸附特性。探讨了固液比、pH、离子强度、反应时间、温度及初始浓度等因素的影响。实验结果表明,pH与固液比显著影响去除率,温度与离子强度的影响较小。当温度为20℃,pH=2.5,Pb(Ⅱ)的初始浓度为200 mg/L,固液比为1 g/L时,最大去除率近100%。动力学实验结果表明,骨炭对Pb(Ⅱ)的吸附为快速反应,在30 min内可达到平衡,准二级动力学模型可较好地拟合实验结果。等温吸附实验结果表明,Freundlich模型与Langmuir模型均可较好地拟合等温吸附实验结果。骨炭对Pb(Ⅱ)的吸附机制主要为表面络合反应与分解置换-沉淀反应。     

枝孢霉在敦煌壁画颜料变色过程中的作用

从敦煌莫高窟分离的一株枝孢霉（Cladosporiumsp.）分别接种到骨胶溶液、骨胶铅丹混合涂层、铅丹骨胶溶液及模拟的壁画色板,并在一定条件下培养后,进行分析测定结果表明：该菌株对骨胶有较强的降解作用,骨胶的降解使铅丹（Ph3O4）失去保护作用,稳定性下降;在含铅丹的骨胶液中培养时可溶性铅含量[ρ（Ph2 ）=3．17mp／L]明显高于未接种的CK[ρ（Ph2 ）=22．9mgiL];对模拟色板和混合涂层的分析显示该菌株在色报表面形成较多草酸盐,并且明显促进铅丹向铅白[Ph3（OH）2（CO3）2]的转化．     

The effect of in utero exposure to dioxins and polychlorinated biphenyls on reproductive development in eight year-old children

We have previously reported on the effects of in utero exposure to polychlorinated dibenzo-p-dioxins and dibenzofurans (PCDD/Fs) and polychlorinated biphenyls (PCBs) on thyroid function and growth hormone concentrations at birth and in two and five year-old children. Herein, we present our most recent follow-up examination findings for the same cohort of children at eight-years of age. A total of 56 children (23 boys, 33 girls) were examined. Bone age (BA), hormone concentrations, and indicators of reproductive development including Tanner, breast, genital, and armpit stages were assessed. Estradiol concentrations were significantly lower in children exposed to higher levels than median of PCDD/Fs + PCBs TEQ compared to the children exposed to levels lesser than median (P = 0.003). Girls exposed to higher levels than median of indicator PCBs had a significantly greater proportion in genital stage 1 and shorter fundi and uteri lengths, as compared to those exposed to low levels (P = 0.025 and P < 0.05, respectively). There was a significant negative relationship between estradiol concentrations and PCDD/Fs + PCB exposure level (P = 0.005). After adjusting for BA, there was a significant association between fundus length and indicator PCB exposure level (P = 0.034). Exposure to both high levels of ΣPCDD/Fs + PCBs TEQ and high levels of total PCBs was associated with decreased fundus length (P = 0.016) and uterus length (P = 0.016). In utero exposure to high levels of PCDD/Fs and PCBs may result in lower estradiol concentrations in eight year-old children and impaired reproductive development in girls.     

Lumbar Bone Mineral Density Phantomless Computed Tomography Measurements and Correlation with Age and Fracture Incidence

Objective: Low bone quality is a contributing factor to motor vehicle crash (MVC) injury. Quantification of occupant bone mineral density (BMD) is important from an injury causation standpoint. The first aim of this study was to validate a technique for measuring lumbar volumetric BMD (vBMD) from phantomless computed tomography (CT) scans. The second aim was to apply the validated phantomless technique to quantify lumbar vBMD in Crash Injury Research and Engineering Network (CIREN) occupants for correlation with age, fracture incidence, and osteopenia/osteoporosis diagnoses.

Methods: Quantitative CT (qCT) and dual-energy X-ray absorptiometry (DXA) were collected prospectively for 50 subjects and used to validate a technique to measure vBMD from 281 phantomless CT scans of CIREN occupants. Hounsfield unit (HU) measurements were collected from the L1–L5 vertebrae, right psoas major muscle, and anterior subcutaneous fat for all subjects and from 3 phantom ports with known mg/cc calcium hydroxyapatite values for the validation group. qCT calibration was accomplished using regressions between the phantom HU and mg/cc values to convert L1–L5 HU values to mg/cc. A phantomless calibration technique was developed where the fat and muscle HU values were linearly regressed against fat (?69 mg/cc) and muscle (77 mg/cc) to establish a conversion for L1–L5 HU measurements to mg/cc. vBMD calculated from qCT versus the phantomless method was compared for the 50 subjects to assess agreement and a mg/cc osteopenia threshold was established using DXA T-scores. CIREN HU measurements were converted to mg/cc using the phantomless technique and the mg/cc osteopenia threshold was used to compare vBMD to age, fracture incidence, and osteopenia comorbidity classifications in CIREN.

Results: Linear regression of lumbar vBMD derived from the qCT versus phantomless calibrations showed excellent agreement (R² = 0.87, P <.0001). A 145 mg/cc threshold for osteopenia was established (sensitivity = 1, specificity = 0.57) and 44 CIREN occupants had vBMD below this threshold. Of these 44 occupants, 64% were not classified as osteopenic in CIREN, but vBMD suggested undiagnosed osteopenia. Age was negatively correlated with vBMD in both sexes (P <.0001) and CIREN occupants with less than 145 mg/cc vBMD sustained an average 1.7 additional rib/sternum fractures (P =.036).

Conclusions: Because lumbar vBMD was estimated from phantomless CT scans with accuracy similar to qCT, the phantomless technique can be broadly applied to both prospectively and retrospectively assess patient bone quality for research and clinical studies related to MVCs, falls, and aging.