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.     

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.     

Effect of combustion condition on cytotoxic and inflammatory activity of residential wood combustion particles

Residential heating is an important local source of fine particles and may cause significant exposure and health effects in populations. We investigated the cytotoxic and inflammatory activity of particulate emissions from normal (NC) and smouldering (SC) combustion in one masonry heater. The PM_1–0.2 and PM_0.2 samples were collected from the dilution tunnel with a high-volume cascade impactor (HVCI). Mouse RAW 264.7 macrophages were exposed to the PM-samples for 24 h. Inflammatory mediators, (IL-6, TNFα and MIP-2), and cytotoxicity (MTT-test), were measured. Furthermore, apoptosis and cell cycle of macrophages were analyzed. The HVCI particulate samples were characterized for ions, elements and PAH compounds. Assays of elemental and organic carbon were conducted from parallel low volume samples. All the samples displayed mostly dose-dependent inflammatory and cytotoxic activity. SC samples were more potent than NC samples at inducing cytotoxicity and MIP-2 production, while the order of potency was reversed in TNFα production. SC-PM_1–0.2 sample was a significantly more potent inducer of apoptosis than the respective NC sample. After adjustment for the relative toxicity with emission factor (mg MJ^?1), the SC-PM emissions had clearly higher inflammatory and cytotoxic potential than the NC-PM emissions. Thus, operational practice in batch burning of wood and the resultant combustion condition clearly affect the toxic potential of particulate emissions.     

Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi

Chorionic villus biopsy specimens were studied electron microscopically in six pregnancies at risk of the infantile type of neuronal ceroid lipofuscinosis (INCL). The biopsy was performed in all cases in the first trimester of pregnancy (8–10 gestation weeks) by the transcervical route. In one case, the biopsy was repeated at 17 weeks by the transabdominal procedure. In two pregnancies, the endothelial cells and, to a lesser extent, the mesenchymal cells of the chorionic villi contained unit membrane-bound inclusions typical of INCL. In both cases, the pregnancy was terminated and in one of them identical inclusions were found in the brains and kidneys of the fetus at 20 weeks of gestational age. The children from the remaining four pregnancies are healthy and have shown no signs of the disease.     

Evaluating the Impact of Distance Measures on Deforestation Simulations in the Fluvial Landscapes of Amazonia

Land use and land cover change (LUCC) models frequently employ different accessibility measures as a proxy for human influence on land change processes. Here, we simulate deforestation in Peruvian Amazonia and evaluate different accessibility measures as LUCC model inputs. We demonstrate how the selection, and different combinations, of accessibility measures impact simulation results. Out of the individual measures, time distance to market center catches the essential aspects of accessibility in our study area. The most accurate simulation is achieved when time distance to market center is used in association with distance to transport network and additional landscape variables. Although traditional Euclidean measures result in clearly lower simulation accuracy when used separately, the combination of two complementary Euclidean measures enhances simulation accuracy significantly. Our results highlight the need for site and context sensitive selection of accessibility variables. More sophisticated accessibility measures can potentially improve LUCC models’ spatial accuracy, which often remains low.