A rare case of de novo distal 19q trisomy prenatally diagnosed

We present a case of de novo trisomy of distal 19q diagnosed prenatally by cytogenetics and FISH analysis. The autopsy performed after termination of the pregnancy showed major internal and external malformations that are associated with this chromosome abnormality. Copyright © 2004 John Wiley & Sons, Ltd.     

Mosaicism for trisomy 12: Four cases with varying outcomes

Trisomy 12 observed in chorionic villus sampling (CVS) may reflect generalized mosaicism or indicate mosaicism confined to only the placenta. In this report, four cases of trisomy 12 observed in CVS or cultured placental biopsies with varying outcomes are presented. Seven dinucleotide repeat polymorphisms for chromosome 12 were used to determine the chromosome 12 origins in the fetus or child and to delineate the mechanism(s) that gave rise to the trisomy. In two cases (cases A and C), the mosaicism was confined to the placenta, resulting in normal liveborns. Although, in one case, the molecular results suggested an apparent duplication of one paternal chromosome 12 in the placenta, normal biparental inheritance was found in the diploid fetal cell line in both cases. In two other cases (cases B and D), trisomy 12 was observed in both extraembryonic and fetal tissues. In one of these pregnancies, a child was born by Caesarean section at 37 weeks because of intrauterine growth retardation and oligohydramnios, and resulted in neonatal death. Molecular markers and fluorescence in situ hybridization (FISH) revealed low-level trisomy 12 mosaicism in the spleen. In the fourth case, fetal abnormalities were detected on ultrasound and low-level trisomy 12 mosaicism was observed in amniotic fluid cells using conventional cytogenetics and FISH. Molecular markers revealed a maternal meiosis I non-disjunction of chromosome 12 in DNA from a cultured placental biopsy. Although predicting the outcomes of pregnancies involving confined placental mosaicism remains difficult, molecular techniques are valuable tools for distinguishing uniparental from biparental disomy and mechanisms of mosaicism.     

旅游和区域大气污染对四川九寨沟气溶胶的贡献

2010年4月~2011年4月,在九寨沟连续监测了总悬浮颗粒物(TSP)和水溶性无机离子的浓度.结果表明:旅游活动显著增加了空气中TSP、SO42-、Ca2+、K+、NH4+和NO3-的含量,而Na+、Mg2+和Cl-则主要来自自然源;旅游强度最高时期(6~10月),降水对空气的清洗作用最强,气溶胶污染程度为全年最低;旅游强度较低时期(1~3、4~5和11~12月),降水量较低且西北沙尘易在春季抵达九寨沟,所以气溶胶污染程度较高;区域燃煤可能是气溶胶[SO42-]:[NO3-]比值较高的原因;生物质燃烧可能是K+在秋末至次年初春较高的原因之一.九寨沟大气环境已明显受当地旅游活动和污染物长距离传输的影响.     

Recilia banda Kramer (Hemiptera: Cicadellidae), a vector of Napier stunt phytoplasma in Kenya

Napier grass (Pennisetum purpureum) is the most important fodder crop in smallholder dairy production systems in East Africa, characterized by small zero-grazing units. It is also an important trap crop used in the management of cereal stemborers in maize in the region. However, production of Napier grass in the region is severely constrained by Napier stunt disease. The etiology of the disease is known to be a phytoplasma, 16SrXI strain. However, the putative insect vector was yet unknown. We sampled and identified five leafhopper and three planthopper species associated with Napier grass and used them as candidates in pathogen transmission experiments. Polymerase chain reaction (PCR), based on the highly conserved 16S gene, primed by P1/P6-R16F2n/R16R2 nested primer sets was used to diagnose phytoplasma on test plants and insects, before and after transmission experiments. Healthy plants were exposed for 60 days to insects that had fed on diseased plants and acquired phytoplasma. The plants were then incubated for another 30 days. Nested PCR analyses showed that 58.3% of plants exposed to Recilia banda Kramer (Hemiptera: Cicadellidae) were positive for phytoplasma and developed characteristic stunt disease symptoms while 60% of R. banda insect samples were similarly phytoplasma positive. We compared the nucleotide sequences of the phytoplasma isolated from R. banda, Napier grass on which these insects were fed, and Napier grass infected by R. banda, and found them to be virtually identical. The results confirm that R. banda transmits Napier stunt phytoplasma in western Kenya, and may be the key vector of Napier stunt disease in this region.     

Tradeoffs,synergies and traps among ecosystem services in the Lake Victoria basin of East Africa

Lake Victoria is a crucial ecosystem for over 25 million people in Kenya, Uganda, Tanzania, Rwanda and Burundi who live in the basin, and for the greater Nile river system downstream of the lake. Ecosystem management in the Lake Victoria basin has been highly extractive for most of the last 60 years, with the 1990s a period of marked decline in food production, economic contraction, rising poverty, increased burden of human disease, and more frequent floods. Lake Victoria itself is becoming eutrophic, with related problems of species extinctions and invasive species. There is evidence of poverty–environment traps: some households and areas appear to be caught in vicious cycles of low income, low investment in soil management, declines in soil fertility, and soil loss, while other households and areas are able to achieve higher incomes and investments, maintain soil fertility, and conserve soil on their farms.Concepts and approaches from the Millenium Ecosystem Assessment (MA) were applied in a study of ecosystem service tradeoffs, synergies and traps in two of the river basins that flow into Lake Victoria from Kenya (Yala and Nyando). Hydrologic units are the main geographic unit used in the analysis, with predictions of sediment yield serving as the main measure of regulating services. Provisioning services are evaluated through a spatially disaggregated analysis of agricultural production, yield and area that combines spatial data from aerial photographs with division-level price and yield estimates.The results illustrate considerable year-to-year variation in land use, agricultural production and sediment yield in the two basins. While overall production appears to be relatively stable at the basin level, there have been shifts in the geographic locus of production toward the upper parts of both basins. A spatial overlay of production and sediment yield indicates that different parts of the basins exhibit tradeoffs, synergies and traps. Results from this study have multiple uses in rural planning, agricultural investment, and watershed management. The results also suggest that the poverty traps conceptual framework may help to enrich the interpretative content of the MA approach.     

On-road and simulated driving: concurrent and discriminant validation

Introduction

A converging pair of studies investigated the validity of a simulator for measuring driving performance/skill.

Study 1

A concurrent validity study compared novice driver performance during an on-road driving test with their performance on a comparable simulated driving test.

Results

Results showed a reasonable degree of concordance in terms of the distribution of driving errors on-road and errors on the simulator. Moreover, there was a significant relationship between the two when driver performance was rank ordered according to errors, further establishing the relative validity of the simulator. However, specific driving errors on the two tasks were not closely related suggesting that absolute validity could not be established and that overall performance is needed to establish the level of skill.

Study 2

A discriminant validity study compared driving performance on the simulator across three groups of drivers who differ in their level of experience - a group of true beginners who had no driving experience, a group of novice drivers who had completed driver education and had a learner's permit, and a group of fully licensed, experienced drivers.

Results

The findings showed significant differences among the groups in the expected direction -- the various measures of driving errors showed that beginners performed worse than novice drivers and that experienced drivers had the fewest errors. Collectively, the results of the concurrent and discriminant validity studies support the use of the simulator as a valid measure of driving performance for research purposes.

Impact on industry

These findings support the use of a driving simulator as a valid measure of driving performance for research purposes. Future research should continue to examine validity between on-road driving performance and performance on a driving simulator and the use of simulated driving tests in the evaluation of driver education/training programs.     

Development of an indirect-cost calculation model suitable for workplace use

Introduction: Occupational Health and Safety (OHS) stakeholders rarely factor the cost of workplace accidents into prevention spending decisions. The lack of consideration of this key information is related to the fact that the scientific literature has failed to provide OHS stakeholders with a cost-calculation tool that is both sufficiently accurate and does not require a data-collection stage ill-suited to the time constraints of workplace decision-makers. Method: This study reviews the recent literature to identify key elements that should foster the use of indirect-cost calculation methods by decision makers. Results: A “local” approach currently appears to be the best method for calculating indirect costs of workplace incidents or accidents in comparison to “bottom-up” or “top-down” approach. This paper discusses four criteria that this type of approach must satisfy to be compatible with the time constraints and accuracy demands of OHS stakeholders in organizations. In addition, four bases for the development of a new indirect cost estimation model are presented and discussed. Impact on industry: this study provides bases and criteria to help the development of indirect-cost calculation models better suited to workplace use than those currently available.