A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis

The presence of maternal cells in fetal samples constitutes a serious potential source for prenatal misdiagnosis. Here we present our approach for detecting maternal cell contamination (MCC) at prenatal diagnosis for eight monogenic disorders (autosomal recessive: β-thalassaemia, sickle-cell anaemia, cystic fibrosis, prelingual deafness; autosomal dominant: achondroplasia, Huntington disease, myotonic dystrophy, neurofibromatosis type I; X-linked: spinobulbar muscular atrophy). Our aim was to apply a simple and low-cost approach, which would easily and accurately provide information on the fetal tissue MCC status. MCC testing was applied to cases of recessive inheritance where the primary mutation screening of the fetus revealed the presence of the maternal mutation, to cases concerning dominant inheritance and to cases of multiple gestation. The potential presence of maternal cells was determined by the amplification of the 3′-HVR/APO B, D1S80, THO1 and VNTRI of vWf polymorphic loci, which have previously demonstrated high heterozygosity in Caucasians. Among 135 prenatal diagnoses, 44 finally needed to be tested for MCC (32.6%). MCC was detected in four cases, where DNA was isolated directly from chorionic villi samples (CVS), and in one case with DNA isolated directly from amniotic fluid (AF). In almost 90% of cases a simple test of one polymorphic locus provided sufficient information about MCC. The choice of the appropriate locus is therefore essential, while the simultaneous screening of both parents provides the means for distinguishing non-informative sites about MCC. Copyright © 2002 John Wiley & Sons, Ltd.     

中国环境镉接触人群低骨密度及肾功能不全的研究

25年前,Ambio曾载文提出应警惕环境镉污染引起的健康效应.1998年在中国进行了这方面的研究,评价了因食用大米而接触镉人群的前臂骨密度(BMD)和肾功能,发现尿镉(CdU)或血镉(CdB)高的绝经后妇女及血镉(CdB)高的男性,BMD均有所下降.在CdB或CdU与肾功能不全(视黄醇结合蛋白排泄增加)之间也发现了明显的、有统计学意义的剂量-效应关系及剂量-反应关系.第一次报道了日本以外的亚洲地区镉接触人群中存在骨不良效应.本文的意义在于阐明了亚洲的环境镉接触人群中仍存在着与肾和骨(镉的比较严重的有害效应)的联合效应,也讨论了一些欧洲镉接触人群的骨效应.     

CCall--healthy and successful work in call centres.

Call centre workplaces are in many ways a challenge to occupational health and safety. The occupation itself can be described as an IT information technology-supported, communication-intensive form of work with often unusual working hours and a high rate of part-time employment. Data on the employee turnover as well as absenteeism related to occupational disability is quite contradictory. Occupational safety and its proponents still have to find new ways into the corporate structures and cultures of this relatively new and rapidly growing branch of industry. In a 2-year research and development project, using a holistic approach and under consideration of all the relevant disciplines, call centre workplaces were studied, and organisational measures were developed and field tested by putting them into practice. Practical help was developed for a sustainable strategy for successful and healthy work in call centres.     

Methane oxidation in slurry storage surface crusts

Livestock manure is a significant source of atmospheric methane (CH4), especially during liquid storage. In liquid manure (slurry) storages a surface crust may form naturally, or an artificial surface crust can be established. We investigated whether there is a potential for CH4 oxidation in this environment. Surface crust materials were sampled from experimental storages with cattle slurry (with natural crust) or anaerobically digested cattle slurry (with straw layer) that had been stored with or without a wooden cover. Extracts of surface crust material were incubated with 5.6% CH4 in the headspace, and methanotrophic activity was demonstrated in all four treatments following a 4- to 10-d lag phase. Subsequent incubation of field-moist surface crust material with 350 microL L(-1) CH4 also showed CH4 oxidation, indicating a potential for CH4 removal under practical storage conditions. There was no CH4 oxidation activity during incubation of autoclaved samples. Methane oxidation rates were 0.1 to 0.5 mg kg(-1) organic matter (OM) h(-1), which is comparable with the activity in wetlands and rice paddies. Partial drying increased CH4 oxidation to 0.2 to 1.4 mg kg(-1) OM h(-1), probably as a result of improved diffusivity within the surface crust. Rewetting reversed the stimulation of methanotrophic activity in some treatments, but not in others, possibly due to a decline in CH4 production in anaerobic volumes, or to growth of methanotrophs during incubation. This study presents direct evidence for methanotrophic activity in slurry storages. Measures to ensure crust formation with or without a solid cover appear to be a cost-effective greenhouse gas mitigation option.     

Effect of fireworks on ambient air quality in Malta

Religious festivals (festas) in the densely populated Maltese archipelago (Central Mediterranean) are ubiquitous during summer when 86 of them are celebrated between June and October, each involving the burning of fireworks both in ground and aerial displays over a period of 3 days or longer per festival. We assessed the effect of fireworks on the air quality by comparing PM₁₀ and its content of Al, Ba, Cu, Sr and Sb which materials are used in pyrotechnic compositions. PM₁₀ was collected mainly from two sites, one in Malta (an urban background site) and the other in Gozo (a rural site) during July–August 2005 when 59 feasts were celebrated and September–October 2005 when only 11 feasts occurred. For both Malta and Gozo, PM₁₀ and metal concentration levels measured as weekly means were significantly higher during July–August compared to September–October and there exist strong correlations between PM₁₀ and total metal content. Additionally, for Malta dust, Al, Ba, Cu and Sr correlated strongly with each other and also with total concentration of all five metals. The same parameters measured in April 2006 in Malta were at levels similar to those found in the previous October. Ba and Sb in dust from the urban background site in Malta during July–August were at comparable or higher concentration than recently reported values in PM₁₀ from a heavily-trafficked London road and this suggests that these metals are locally not dominated by sources from roadside materials such as break liner wear but more likely by particulate waste from fireworks. Our findings point to the fact that festa firework displays contribute significantly and for a prolonged period every year to airborne dust in Malta where PM₁₀ is an intractable air quality concern. The presence in this dust of elevated levels of Ba and especially Sb, a possible carcinogen, is of concern to health.