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.     

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．     

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。     

Temporal changes in the fluoride levels of jaws of European deer in industrial regions of Western Pomerania,Poland

The factories processing natural phosphates and apatites in Poland release into the atmosphere considerable amounts of fluorine compounds. Fluoride is known to accumulate in the hard tissues of animals and humans. This paper describes the determination of fluoride in mandibles of deer in the years 1982 and 1990. In recent years, the establishments have restricted their output and modernized the technology of phosphate fertilizer production. The fluoride content in jaws has decreased, particularly in those animals having their habitat in the vicinity of the two factories.     

The Orange-Brown Patina of Salisbury Cathedral (West Porch) Surfaces: Evidence of its Man-Made Origin (5 pp)

Goal, Scope and Background In this paper, we attempt to elucidate the composition and origin of the orange patina on the surfaces of the West-Porch of Salisbury Cathedral by comparison to other known patinas: (i) the orange-brown patina on the marble surfaces of the Acropolis in Athens and the Arch of Titus in Rome whose analyses have shown very high amounts of phosphates, and generally amino acids from animal-skin glue or other protein binders; (ii) the phosphated patinas which also contain oxalates, found in 1996 on Catalonian calcareous sandstones and in the calcareous dolomites of the Monastery of Silos, Spain, whose origin is either the application of calcium caseinate, or egg yolk and animal glue; and (iii) the patinas with only oxalates found in some of Verona's monuments (St Zeno) and Spanish sites as in the Monastery of Guadalupe and Cuenca cathedral, formed either by the mineralization of algal filaments or by biological reactions yielding oxalate from yolk egg (added to stone as part of preservative empirical treatments). Methods In the winter of 2003, the West-Porch of Salisbury Cathedral received conservation works, but the old patina was not entirely removed. This fact has allowed us to collect the samples for its study. The IR spectra were registered with a Golden Gate ATR Mk II system using attenuated total reflectance Fourier transform infrared (ATR/FTIR) spectrometry. Mineral composition was determined by XRD (Philips PW 1710 spectrometer with Cu tube), whereas major and trace elements analyses were performed by XRF (Philips PW1480 PW). Microscopy examination was performed on a Leica M655 microscope. Phosphate, oxalate, calcium and sulphate contents were analysed by usual chemical methods. Results ATD-FTIR spectra of the Salisbury's patina exhibit peaks at 2361, 2341 and 671 cm–1 (assigned to phosphates); 3410, 1680, 1620, 1122 and 602 cm–1 (assigned to sulphates); and 1447/1437 and 876 cm–1 (attributed to carbonates). The little peaks at 1620 and 798 cm–1 could be assigned to oxalates. XRD and XRF have led to identify the carbonates, phosphates and sulphates as pertaining to the species dolomite, hydroxyapatite and gypsum, respectively. Oxalates are detected only in small amounts by chemical analyses but wewellite and weddellite have not been well identified. The interface between the patina and the calcareous dolomite is very uneven and full of cavities in certain cases, but well-defined and rather smooth in other cases. In accord with the very small amounts of the oxalates found, remnants of micro-organisms are not detected in the patinas. Discussion The Salisbury's patina is a composite material formed by particulates and matrix constituents. Regarding the patina particulate, e.g. animal bones, it is necessary to refer to the apatite phase composition. The bone mineral contains 4–8 wt % of carbonate in animal body and its presence in the apatite phase is advantageous as it increases the mechanical strength. We think that FTIR bands at around 1440 and 876 cm–1 arise from vibration of CO32– ions, but not necessarily from the limestone. They could be attributed to carbonated hydroxyapatite through the substitution of groups PO43– for CO32– in the lattice of hydroxyapatite. Concerning the matrix and also from the FTIR spectra, the absence of specific bands of the following species: proteins (3350–3225, 1660, 1550–1535, 1270–1230 and 620 cm–1), oils (1778, 1738 and 1051 cm–1), bee waxes (3000, 1470, 720–730 and 1700 cm–1) and aged egg-yolk (2954, 2920, 2850, 1650, 1549, 1465 and 1240 cm–1) had led us to exclude these usual binders. On the other hand, the amount of sulphates in the paste that covers the walls of the Salisbury's Cathedral is excessively high (above 20% in weight) to consider it as a biotransformation product of calcium oxalate from fungal biofilms. Consequently, we must think that the gypsum found in the samples has a man-made origin (it was deliberately added as part of a protective paste) and that it is the matrix searched for. Thus, we deduce that the patina of Salisbury's Cathedral is a special stucco made mixing plaster with powdered bone (the colour of the bones is the same that it exhibits in the patina), low quantities of an uncharacterized binder (collagen, possibly) and water. Conclusion We believe that the patina of the Salisbury's Cathedral is a variant of the Greco-Latin empirical protective treatment that included bone as a hardening material. Nevertheless, we also think that the presence of the bones in the paste could be related to an aesthetical intention: gaining a warm tone for the original stone through the ochre colour of the bones. Recommendation and Perspective Our results have been an excuse to contribute to the controversy started at the 80's on the origin of orange-brown patinas observed on stone surfaces of Greco-Latin and medieval monuments. There are two major theories on provenance: biological vs. man-made. In Salisbury Cathedral, neither of them has been proven through scientific evidence as yet. Our opinion is that Salisbury patina can be classified into the man-made group.