Chromosome mosaicism and maternal cell contamination in chorionic villi

While chorionic villus sampling allows both early and rapid prenatal diagnosis of chromosome disorders, the accuracy of this technique has not been fully established. Maternal cell contamination and pseudomosaicism represent two major sources of diagnostic error. Combined use of both direct chromosome preparations and villus cultures is important in overcoming these problems. Direct preparations of villus tissue allow recognition of maternal cell contamination of villus cultures. Conversely, villus cultures yield higher resolution chromosomes and may be helpful in differentiating between true versus pseudomosaicism when two or more cell lines are identified in direct chromosome preparations. Preliminary data suggest that analysis of direct preparations from multiple individually processed villus fragments may also be of value in this regard. Until more experience is gained, mid-trimester amniocentesis should be offered to CVS patients when mosaicism is encountered.     

Trisomy 20 mosaicism in prenatal diagnosis–a review and update

A total of 66 cases with prenatal diagnosis of trisomy 20 mosaicism was reviewed. Since the majority of cases (85 per cent) was associated with grossly normal phenotype and the abnormalities noted in 15 per cent of cases were inconsistent and rather non-specific, no causal relationship between trisomy 20 mosaicism and a specific malformation syndrome can be established. The possiblity of an association between an abnormal phenotype and a high percentage of trisomy 20 cells (> 60 per cent) must be considered preliminary and be viewed with caution. The fact that cells with trisomy 20 have not been recovered from blood cultures and were detected more frequently from specific fetal tissues, (such as kidney, rectum, oesophagus), and from placental tissues, suggests that trisomy 20 is more likely to be confined to certain fetal organs and to extra-embryonic tissues. This review calls for the collection of more data on all cases of trisomy 20 mosaicism diagnosed prenatally, in order to provide more accurate information to the prospective parents.     

United states survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis

The survey of the incidence of chromosome mosaicism and pseudomosaicism detected in prenatal diagnosis included data from approximately 60 000 genetic amniocenteses in the United States. There were 59 participating cytogenetic laboratories nationwide. The overall incidence of chromosome mosaicism was 0.25 per cent (range of 0–0.89 per cent). The average frequency of pseudomosaicism involving multiple cells or clones was 0.7 per cent (range of 0–11.21 per cent). The frequency of single cell or clone pseudomosaicism was 2.47 per cent (range of 0–11.49 per cent). In cases of pseudomosaicism with trisomy, the most frequently involved chromosome was number 2; occurrence rates of trisomies 7,X,9,17 and 20 were also relatively high. In cases of pseudomosaicism with structural abnormalities, this survey showed an association between relative chromosome size and the frequency of involvement in structural rearrangement. Data on a total of 185 cases of chromosome mosaicism collected in this survey as well as from other documented sources showed 89 cases involved an autosome, 13 cases a sex chromosome, and 23 a marker chromosome. The frequency of noticeable phenotypic abnormalities was highest (37.8 per cent) in the autosomal mosaics and lowest (10.5 per cent) in the sex chromosome mosaics. The average rate for cytogenetic confirmation was 70 per cent.     

Prenatal diagnosis of del(11)(p13p15)

Prenatal diagnosis of del(11)(p13p15) was made on cultured amniotic fluid cells and confirmed on fetal skin fibroblasts after termination of pregnancy. Both irides appeared behind schedule in development by 2–3 weeks in reference to the gestational age of the fetus. It is suggested that the aniridia of the aniridia-Wilms tumour association is due to developmental arrest. Confirmation of this complex is difficult at mid-gestation without critical pathological study of the eyes.     

Performance assessment of mining operations using nonparametric production analysis: A bootstrapping approach in DEA

This paper presents a Data Envelopment Analysis (DEA) model combined with bootstrapping to assess performance in mining operations. Since DEA-type indicators based on nonparametric production analysis are simply point estimates without any standard error, we provide a methodology to assess the performance of strip mining operations by means of a DEA bootstrapping approach. This methodology is applied to a sample of fifteen Illinois strip coal mines using publicly available data (Thompson et al., 1995). The applied approach uses a mixed mine environmental performance indicator (MMEPI) that is derived by means of a VRS DEA environmental technology treating overburden as an undesirable output under the weak disposability assumption, and we compare this measure with a traditional output-oriented mine performance indicator (MPI) omitting overburden. Although omitting undesirable output results in biased performance estimates, these findings are based on sample specific results and indicate this bias is not statistically significant. The confidence intervals derived by the bootstrapping of the proposed MMEPI point estimates indicate that significant inefficiency has taken place in the analyzed sample of Illinois strip mines.     

Long-term impacts of exposure to high temperatures on human capital and economic productivity

Weather anomalies have a range of adverse contemporaneous impacts on health and socio-economic outcomes. This paper tests if temperature anomalies around the time of birth can have long-term impacts on individuals' economic productivity. Using unique data sets on historical weather and earnings, place and date of birth of all 1.5 million formal employees in Ecuador, we find that individuals who have experienced in-utero temperatures that are 1 °C above average are less educated and earn about 0.7% less as adults. Results are robust to alternative specifications and falsification tests and suggest that warming may have already caused adverse long-term economic impacts.     

Direct measurement of denitrification activity in a Gulf coast freshwater marsh receiving diverted Mississippi River water

Wetland loss along the Louisiana Gulf coast and excessive nitrate loading into the Gulf of Mexico are interrelated environmental problems. Nitrate removal by soil denitrification activity was studied in a ponded freshwater marsh receiving diverted Mississippi River water for the purpose of reversing or slowing wetland loss. Labeled ¹⁵N-nitrate was applied at 3.8 g N m⁻² into four replicate study plots after removing above ground vegetation. Nitrogen gas (N₂) and nitrous oxide (N₂O) emissions from the plots were determined by isotope ratio mass spectrometry (IRMS). Nitrous oxide emissions were also compared with the results determined by gas chromatograph (GC). Results showed that it took 2 weeks to remove the added nitrate with N₂O emission occurring over a period of 4 d. The apparent denitrification dynamics were assumed to follow the Michaelis–Menten equation. The maximum denitrification rate and K_m value were determined as 12.6 mg N m ⁻² h⁻¹, and 6.5 mg N l⁻¹, respectively. Therefore the maximum capacity for nitrate removal by the marsh soil would be equivalent to 110 g N m⁻² yr⁻¹, with more than 30% of nitrogen gas evolved as N₂O. For typical nitrate concentrations in Mississippi River water of about 1 mg N l⁻¹, nitrate would be removed at a rate of 14.7 g N m⁻² yr⁻¹ with N₂O emission about 1.5%. A denitrification dynamic model showed that the efficiency of nitrate removal would largely depend on the water discharge rate into the ponded wetland. Higher discharge rate will result in less retention time for the water in the marsh where nitrate is denitrified.     

Historical alteration in the nitrogen concentration and N natural abundance of mosses in Germany: Indication for regionally varying changes in atmospheric nitrogen deposition within the last 140 years

Historical alterations of nitrogen deposition in the western part of Germany were investigated by comparing nitrogen concentrations and ¹⁵N natural abundance of historical and recent samples of the two pleurocarpous mosses Pleurozium schreberi and Scleropodium purum. Pooling of the data revealed only slight tissue N increases over the past 140 years which were significant nevertheless. At closer examination on the single site level historical increases of N concentrations were found particularly for some sites in regions where agricultural activities were considerably intensified during the second half of the 20th century. The comparison of δ¹⁵N values showed a strong depletion of ¹⁵N natural abundance in areas currently heavily influenced by livestock management. This indicates an increased impact of NH_y compounds. However, the almost unchanged δ¹⁵N values in some low mountain range areas with only moderate intensification of agriculture point to a more or less constant ratio of NH_y/NO_x input over time. Significant correlations of both tissue N concentrations and ¹⁵N natural abundance between the two species justify the assumption that they use the same nitrogen source, probably atmospheric deposition.     

A rare inherited euchromatic heteromorphism on chromosome 1

Extra genetic material that is euchromatic is generally regarded to be associated with phenotypic abnormalities. However, recent studies suggest that this is not always the case. Chromosome analysis was performed on amniotic fluid cells from a 37-year-old phenotypi-cally normal patient referred for advanced maternal age. All the cells analysed showed a karyotype of 46, XY, 1p-K The 1p+ chromosome had extra genetic material of uncertain origin in chromosome band region 1p21 →31. Chromosome analysis on the father revealed a normal 46, XY male karyotype. The mother's karyotype showed the same 1p+ chromosome. C and Q banding, as well as silver staining studies, in both the mother and the fetus support the interpretation that the extra chromosomal material was euchromatic in nature. This 1p + chromosome may be characterized as a euchromatic heteromorphism. Euchromatic hetero-morphisms not associated with phenotypic abnormalities have been reported for chromosomes 9 and 16. To the best of our knowledge, this is the first report involving this type of cytogenetic anomaly on chromosome number 1 in a phenotypically normal mother and infant.     

漓江段地表水体旱季硝酸盐动态变化特征及其来源

2016年9月28日至12月28日期间对漓江段13个断面地表水进行取样,取样频率为半月1次,分析硝酸盐在旱季期间漓江段的时空变化特征,并利用¹⁵ N和¹⁸ O同位素技术分析漓江段硝酸盐的来源.结果表明：①漓江水体中硝酸盐浓度范围为0.46~18.48 mg·L^-1,平均值为6.18 mg·L^-1,对比中国《生活饮用水卫生标准》（GB 5749-2006）中规定的硝酸盐浓度（10 mg·L^-1）,旱季漓江水体中硝酸盐污染程度处于较低水平.②9~12月期间漓江各断面处硝酸盐浓度呈现缓慢递增趋势,主要受旱季降雨量、径流量及人类活动强度而变化;硝酸盐浓度自漓江上游至下游表现出"增-减-增"的变化趋势,主要是污染物逐段汇入且汇入量不断增加的结果.③旱季漓江水体中硝酸盐的主要来源为土壤有机氮、人畜粪便和污水排放的混合源,主要来源于居民生活污水、人畜粪便等.④为了更好地保护漓江水质,建议加大城市排污管网的建设、修建小型污水处理设施、提高污水处理率及污水排放标准,加强旅游环境管理和环境保护宣传,提高游客环境保护意识.