Prenatally detected trisomy 7 mosaicism in a dysmorphic child

Trisomy 7 mosaicism was detected prenatally in cultured amniocytes but not in fetal lymphocytes. The child that was born had pigmentary changes of the skin and facial asymmetry suggestive of a chromosomal mosaicism. Skin fibroblasts were studied and trisomy 7 mosaicism was confirmed. At 3 years of age the boy had developed mentally within normal limits. However, dysmorphic findings include sparse hair, short leftpalpebral fissure, ptosis of the left eyelid, strabismus, enamel dysplasia, low-set and posteriorly rotated ears and undescended testes. These findings share some common features with previously reported cases of trisomy 7 mosaicism. Copyright © 2002 John Wiley & Sons, Ltd.     

Health risk assessment of indoor air pollution in Finnish ice arenas

Poor indoor air quality and epidemic carbon monoxide (CO) and nitrogen dioxide (NO(2)) poisonings due to exhaust emissions from ice resurfacers have been continuously reported from enclosed ice arenas for over 30 years. The health risks in users of Finnish ice arenas were analysed in three ways: (1) evaluation of four cases of epidemic CO poisonings, (2) modelling the association between NO(2) exposure and respiratory symptoms among junior ice hockey players, and (3) estimation of the number of arena users at risk of breathing poor quality air due to non-compliance of ice arenas with recommended abatement measures. The common causes for the CO poisonings involving over 300 subjects were large emissions from propane-fuelled ice resurfacer, small arena volume, negligible ventilation, and very recent opening of the arena. Rhinitis (prevalence 18.3%) and cough (13.7%) during or after training or game were significantly associated with the estimated personal NO(2) exposure of young hockey players (n=793) to average concentrations ranging from 21 to 1176 microg/m(3) in their home arena. During a 6-year follow-up of an intensive information campaign the portion of electric resurfacers increased from 9% to 27%, and that of emission control technology on propane-fuelled resurfacers increased from 13% to 84%. The portion of inadequately ventilated arenas decreased from 34% to 25%. However, 48% of the investigated Finnish ice arenas (n=125) did not fully comply with the non-regulatory recommendations. Consequently, 20000 daily users of ice arenas were estimated to remain in 2001 at risk of breathing poor quality air. Modern small and inadequately ventilated ice arenas pose their users (mostly children and young adults) at risk of breathing poor quality air and suffering from acute adverse health effects. Governmental regulations are needed worldwide to ensure safe sports in enclosed ice arenas.     

DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL,CLN1)

Eleven fetuses at risk for the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1) were studied using DNA markers and the results were compared with the results of electron microscopy (EM) of chorionic villus specimens from pregnancies in the first or early second trimester of pregnancy. In four cases, the prenatal diagnosis was made independently with both methods, and in seven cases, the EM diagnosis was confirmed postnatally or from autopsy material using RFLP analysis. The two methods gave concordant results in all cases. The DNA analysis based on RFLP haplotypes also for the first time facilitates reliable carrier diagnostics. RFLP analysis based on polymorphic markers closely linked to the INCL locus is now available for prenatal diagnosis of this fatal brain disease, whose biochemical background is totally unknown and for which no treatment is available.     

Trisomy 12 mosaicism in amniocytes and dysmorphic child despite normal chromosomes in fetal blood sample

Trisomy 12 mosaicism (44 per cent) was detected prenatally in cultured amniocytes. A cordocentesis was performed to confirm the result. Only normal cells were found in the fetal blood sample. The fetus was estimated to be at a low risk of having a chromosomal abnormality and the pregnancy continued. Eight days after birth, a congenital heart defect was detected in the child. Several dysmorphic features were also evident. Further karyotyping of different tissues revealed normal blood and urinary cells but trisomic cells in the placenta (100 per cent) and in skin fibroblasts (25 per cent). The child died at 5 weeks of age. In this case, the fetal blood sample failed to reveal the real chromosome constitution of the fetus.     

Characterization of Air Quality Problems in Five Finnish Indoor Ice Arenas

ABSTRACT

The air quality in five Finnish ice arenas with different volumes, ventilation systems, and resurfacer power sources (propane, gasoline, electric) was monitored during a usual training evening and a standardized, simulated ice hockey game. The measurements included continuous recording of carbon monoxide (CO), nitric oxide (NO), and nitrogen dioxide (NO₂) concentrations, and sampling and analysis of volatile organic compounds (VOCs). Emissions from the ice resurfacers with combustion engines caused indoor air quality problems in all ice arenas. The highest 1-hour average CO and NO₂ concentrations ranged from 20 to 33 mg/m³ (17 to 29 ppm) and 270 to 7440 µg/m³ (0.14 to 3.96 ppm), respectively. The 3-hour total VOC concentrations ranged from 150 to 1200 µg/m³. The highest CO and VOC levels were measured in the arena in which a gasoline-fueled resurfacer was used. The highest NO₂ levels were measured in small ice arenas with propane-fueled ice resurfacers and insufficient ventilation.

In these arenas, the indoor NO₂ levels were about 100 times the levels measured in ambient outdoor air, and the highest 1-hour concentrations were about 20 times the national and World Health Organization (WHO) health-based air quality guidelines. The air quality was fully acceptable only in the arena with an electric resurfacer. The present study showed that the air quality problems of indoor ice arenas may vary with the fuel type of resurfacer and the volume and ventilation of arena building. It also confirmed that there are severe air quality problems in Finnish ice arenas similar to those previously described in North America.     

Improvement of Air Quality in a Small Indoor Ice Arena by Effective Emission Control in Ice Resurfacers

ABSTRACT

The effectiveness of a new emission control system in the ice resurfacer was tested in an exhaust gas emission laboratory, and the improvement of the air quality in a small, enclosed ice arena was demonstrated in a 4.5-month follow-up study. The emission control system consisted of a lambda sensor-controlled fuel supply and a three-way metallic catalyst that were applied to a propane-fueled resurfacer. In the laboratory tests, the engine emissions of carbon monoxide (CO), hydrocarbons (HC), and nitrogen oxides (NO ) reduced simultaneously by 91, 90, and 96%, respectively. During the air quality follow-up the median 1-hour average nitrogen dioxide (N0₂) concentration inside the ice arena decreased from 430 ug/m³ (230ppb) to 58 ug/m³ (31 ppb), and that of CO decreased from 4.4 mg/m³ (3.8 ppm) to 1.5 mg/m³ (1.3 ppm). The new emission control system proved to be a feasible, reliable, and effective means to improve the indoor air quality in the ice arena. However, continuous mechanical ventilation was necessary during all business hours in order to achieve and maintain a fully acceptable air quality with this technology.     

Generality of Models that Predict the Distribution of Species: Conservation Activity and Reduction of Model Transferability for a Threatened Bustard

Abstract:  Predictive models can help clarify the distribution of poorly known species but should display strong transferability when applied to independent data. Nevertheless, model transferability for threatened tropical species is poorly studied. We built models predicting the incidence of the critically endangered Bengal Florican ( Houbaropsis bengalensis ) within the Tonle Sap (TLS) floodplain, Cambodia. Separate models were constructed with soil, land-use, and landscape data and species incidence sampled over the entire floodplain (12,000 km²) and from the Kompong Thom (KT) province (4000 km²). In each case, the probability of Bengal Florican presence within randomly selected 1 × 1 km squares was modeled by binary logistic regression with multimodel inference. We assessed the transferability of the KT model by comparing predictions with observed incidence elsewhere in the floodplain. In terms of standard model-validation statistics, the KT model showed good spatial transferability. Nevertheless, it overpredicted florican presence outside the KT calibration region, classifying 491 km² as suitable habitat compared with 237 km² predicted as suitable by the TLS model. This resulted from higher species incidence within the calibration region, probably owing to a program of conservation education and enforcement that has reduced persecution there. Because both research and conservation activity frequently focus on areas with higher density, such effects could be widespread, reducing transferability of predictive distribution models.     

南北极大气气溶胶单颗粒成分特点研究

运用定量电子探针微区分析技术(EPMA)分别测定了采自北极新奥尔松地区(78?55′N、11?56′E)和南极乔治王岛(62?13′S、58?47′W)极昼天气下PM10大气颗粒物样品.结果表明,北极和南极大气颗粒物化学成分存在很大差异,表现出各自不同的特点.北极的颗粒类型中,“反应的海盐”和“矿物尘”分别占颗粒总数的44%和27%,“新鲜海盐”所占的比例不到10%,“反应的海盐”中以含硝酸盐的颗粒为主,反映了外来物质或人为污染对该地气溶胶影响较大;南极的颗粒类型中,“新鲜海盐”占总数的74%左右,“反应的海盐”占19%,反应的海盐全部含硫酸盐、未发现含硝酸盐的颗粒,推测与海盐反应的含硫物质来源于海洋浮游生物代谢过程产生的二甲硫醚(DMS)及其降解产物,而与人为污染无关.     

Two-year follow-up study of nonregulatory recommendations for better air quality in indoor ice arenas

A standardized questionnaire was used in a two-year follow-up study to test the effectiveness of non-regulatory recommendations to improve indoor air quality of 103 ice arenas in Finland. In addition, the performance of a state-of-the-art emission control technology (ECT) on propane-fueled resurfacers was evaluated by measuring the one-week average nitrogen dioxide (NO₂) concentration in a small sample of arenas. The number of retrofitted ECT on propane-fueled resurfacers increased from 6 to 37 (8% to 37% of ice arenas) and the number of electric resurfacers from 7 to 9 (both 9% of arenas) in 1994–1996. At the same time, the prevalence of inadequate ventilation increased among the most susceptible small arenas (volume <30 000 m³) from 11 (31%) to 19 (38%). Combustion-powered resurfacers (88%) and inadequate ventilation (24%) were prevalent also among the 17 new arenas built in 1994–1996. ECT resurfacers significantly decreased the mean indoor NO₂ concentration of eleven arenas from 650 μg/m³ to 147 μg/m³. Thus, retrofitting resurfacers with ECT seems to be a feasible mitigation option to improve indoor air quality in ice arenas, but the ultimate solution is an electric ice resurfacer. Non-regulatory recommendations seem to be partially effective in abatement against the air quality problems, but additional regulatory measures are needed for full compliance in all arenas.     

畜禽源氨气排放因子估算方法研究

畜禽养殖过程中产生的氨气(NH_3)在人为源NH_3排放中所占的比重较大,对二次气溶胶的形成起重要作用.由于我国畜禽饲养品种多样,各地气候条件和饲养规模存在较大差异,且影响NH_3排放的因素复杂多变,因此,获得准确的畜禽NH_3排放因子较为困难.本文以山西省太原市及其周边地区典型猪场、鸡场、牛场、羊场为实验场所,以杜洛克猪与长白猪的杂交猪、海兰褐蛋鸡、白羽肉鸡、杜泊羊与晋中绵羊的杂交羊、中国黑白花奶牛、金色阿奎丹与西门塔尔杂交肉牛为研究对象,通过3种方法估算它们的NH_3排放因子.结果表明:基于日粮成分和氮代谢沉积率的粗蛋白估算法过程简单、计算便捷、适合所有种类的畜禽,但未考虑NH_3挥发过程中的吸收转化及施肥利用,因而误差较大;基于排泄物含氮率和NH_3挥发率的物质流法涉及粪肥管理的不同阶段,全面考虑了NH_3产生、损失的全过程,与实际情况接近,但参数较多、周期较长、计算过程复杂;基于畜禽舍内NH_3浓度的直接测量法数据来源可靠、参数少,但只能用于相对封闭的环境,不适合牛场和羊场等敞开或半敞开的圈舍,且该方法没有考虑粪尿离开畜禽舍以后的储藏、还田过程,计算结果偏小.通过3种方法的互相印证和比对,猪、奶牛、肉牛、羊、蛋鸡、肉鸡6种实验动物的NH_3排放因子分别为6.90、36.53、22.99、3.94、0.54、0.46 kg·头(只)~(-1)·a~(-1).本研究可以为我国畜禽源NH_3排放因子的本地化测定提供一定的参考,并为准确估算畜禽NH_3排放量、做好农业源NH_3排放清单编制和污染防治工作提供参考.