Pilot study for the neonatal screening of fragile X syndrome

An Erratum has been published for this article in Prenatal Diagnosis 23 (9), 2003, 771. Fragile X syndrome (SFX) is the commonest form of inherited mental retardation. Due to the highly variable phenotype clinical diagnosis is complicated. In nearly all cases, the disorder is caused by expansion of a CGG-repeat in the 5′-untranslated region of the FMR1 (fragile X mental retardation-1) gene. We have evaluated the feasibility, efficiency and costs of two methodologies in order to develop a simple test to screen large populations: PCR and fragile X mental retardation-1 protein (FMRP) immunodetection. We studied 100 newborn males using PCR and immunodetection (26.91 Euro). All but one amplified the CGG repeat of the FMR1 gene within the normal size range. The sample that failed to amplify showed only 28% of FMRP expression by immunodetection study; both results indicated an affected male. A further 100 males were studied only by polymerase chain reaction (PCR) (7.8 Euro); all of them amplified within the normal size range. Both methodologies, PCR and immunodetection, are feasible for screening large populations, PCR being the most suitable, economical and less time-consuming. However, it is advisable to keep slides for immunodetection when PCR fails or the external control shows no amplification. Early detection of SFX-affected individuals would represent a great benefit for their maximum social integration, due to appropriate treatment and early stimulation and would permit a cascade screening in their pedigree. Copyright © 2002 John Wiley & Sons, Ltd.     

In Situ flushing of contaminated soils from a refinery: Organic compounds and metal removals

This article demonstrates the applicability of in situ flushing for the remediation of soil contaminated with petroleum hydrocarbons at a Mexican refinery. The initial average total petroleum hydrocarbon (TPH) concentration for the demonstration field test was 55,156 g/kg. After six weeks of in situ flushing with alternate periods of water and water/surfactant, an average concentration of 1,407 mg/kg was reached, achieving a total removal efficiency of 98 percent. At the end of the process, no hydrocarbons such as diesel; gasoline; benzene, toluene, ethyl benzene, and xylene (BTEX); or petroleum aromatic hydrocarbons (PAHs) were found. Iron washing achieved a removal efficiency of 70 percent, and for vanadium, the removal efficiency was 94.4 percent. The volume of soil treated was 41.6 m³ (38 m²), equivalent to 69.5 tons of soil. A rough calculation of the process costs estimated a total cost of $104.20/m³ ($114.00/m²). Our research indicates that there are a few studies demonstrating in situ flushing experiences under field conditions where both organic (TPH, diesel, gasoline, PAHs, BTEX) and metal (iron and vanadium) removals are reported. © 2004 Wiley Periodicals, Inc.     

Aerosol composition as a function of haze and humidity levels in the Southwestern U.S.

The observed composition of visibility-reducing aerosols in the Grand Canyon region is summarized in climatological terms. Observations are from SCENES, a measurement program extending from 1984 to 1989. Results are presented as average mass balances stratified by various factors.Aerosols were found to exhibit substantial seasonal variation, but little systematic diurnal variation. Crustal material was a dynamic component, and peaked during springtime. Aerosol composition, but not total concentration, depended strongly on ambient relative humidity, with crustal material augmented at low humidities and sulfates augmented at high humidities. Total fine-particle concentrations correlated strongly with light scattering, as expected; however, little association between chemical composition and light scattering was observed.     

Trisomy 2 due to a 3:1 segregation in an abortion studied by QF-PCR and CGH

Balanced reciprocal translocation is one of the known causes of recurrent spontaneous abortions. Cytogenetic studies of unbalanced miscarriages are difficult due to the growth failure of early loss and usually macerated abortions. We present a molecular study of an abortion in which the father carries a balanced reciprocal translocation t(2;17)(q32.1;q24.3) using QF-PCR and CGH techniques. DNA analysis showed the presence of a trisomy 2 due to a 3:1 interchange segregation. Recombinant events could also be investigated by comparing DNA samples from the family. We propose QF-PCR in addition to CGH as an efficient diagnostic method to improve our knowledge of unbalanced offspring in balanced translocation carriers. Copyright © 2005 John Wiley & Sons, Ltd.     

The Impact of Brown-Headed Cowbird Parasitism on Populations of the White-Crowned Sparrow

Brown-headed Cowbirds, Molothrus ater , are brood parasites on many species of North American Passerines. Cowbird parasitism is frequently cited as a contributing factor in the decline of United States passerine populations, based on three lines of evidence. First, range expansion and population increases by Cowbirds in this century are dramatic and well documented. Second, increasing rates of parasitism have been discovered in a variety of host species populations. Finally, direct negative effects of parasitism on certain vulnerable species notably Kirtland's Warbler, Dendroica kirtlandii , have been demonstrated. It remains unproven, however, that Cowbirds have significant negative effects on more abundant and widely-distributed hosts.
We report here on the impact of Cowbird parasitism on populations of Nuttall's White-crowned Sparrow, Zonotrichia leucophrys nuttalli , in the San Francisco Bay Area. This widespread songbird is now subject to a 40–50% rate of parasitism in San Francisco, an increase from 5% only 15 years ago. Using known mortality and fecundity values, we calculate that this population of White-crowns cannot maintain its numbers when the parasitism rate exceeds approximately 20%. Present levels of parasitism thus appear to threaten the longevity survival of this adaptable Songbird in the San Francisco Bay Area.     

Neanderthal medics? Evidence for food, cooking, and medicinal plants entrapped in dental calculus

Neanderthals disappeared sometime between 30,000 and 24,000?years ago. Until recently, Neanderthals were understood to have been predominantly meat-eaters; however, a growing body of evidence suggests their diet also included plants. We present the results of a study, in which sequential thermal desorption-gas chromatography-mass spectrometry (TD-GC-MS) and pyrolysis-gas chromatography-mass spectrometry (Py-GC-MS) were combined with morphological analysis of plant microfossils, to identify material entrapped in dental calculus from five Neanderthal individuals from the north Spanish site of El Sidrón. Our results provide the first molecular evidence for inhalation of wood-fire smoke and bitumen or oil shale and ingestion of a range of cooked plant foods. We also offer the first evidence for the use of medicinal plants by a Neanderthal individual. The varied use of plants that we have identified suggests that the Neanderthal occupants of El Sidrón had a sophisticated knowledge of their natural surroundings which included the ability to select and use certain plants.     

餐厨垃圾综合资源化处理技术实例研究

在目前餐厨垃圾处理现状基础上,介绍了一种餐厨垃圾处理工艺,采用机械生物处理技术,包括收运系统、粉碎分选预处理、厌氧发酵生物处理、沼气热电联供、有机堆肥、废水处理、除臭系统多个环节,分离出油脂进行回收,垃圾厌氧发酵产生沼气发电,沼渣进行堆肥,以期实现餐厨垃圾减量化、无害化、资源化,解决"垃圾猪"、"地沟油"问题。     

城市不同源雾霾颗粒物健康风险差异评估比较

通过研究不同来源霾颗粒物对大鼠气管上皮细胞（RTE cells）电阻抗变化和细胞自噬因子的影响,评价不同来源霾颗粒物对人体健康风险的差异性.分别将RTE暴露于从居民区（I）,高架交通源（Ⅱ）和化工园区（Ⅲ）采集的3种雾霾颗粒物中,统一暴露浓度和时间分别为100mg/L和24h.通过电子细胞基质阻抗检测（ECIS）细胞增长引起的阻抗变化和细胞电损伤恢复时间;通过蛋白免疫印迹测定p62,Atg5,Atg7,Beclin1,LC3B和mTOR蛋白表达量来分析比较不同来源雾霾颗粒物对RTE细胞自噬的影响.结果表明,与空白对照组相比,不同雾霾颗粒物处理组细胞电损伤恢复时间分别延长了34.6%,63.2%和78.0%;p62蛋白表达量差异显著性下降,Atg5,Atg7,Beclin1,LC3B蛋白表达量差异显著性上升.此外,mTOR相关蛋白表达量差异显著性下降,分别下降了4.38%,3.34%和2.36%;p-mTOR蛋白表达量与空白组相比,实验组I下降24.2%,实验组Ⅱ下降37.0%,实验组Ⅲ下降60.9%.由以上结果可知,不同来源雾霾颗粒物对RTE细胞均有一定的毒性损伤作用,能够减小细胞增长速度和削弱细胞修复能力,增强细胞自噬因子蛋白的表达,且化工园区采集的雾霾颗粒物毒性强于居民区和高架交通源.不同来源雾霾颗粒物的细胞毒性存在明显差异,基于细胞电损伤恢复时间的测定以及自噬相关蛋白的检测方法能够为雾霾颗粒物健康风险评价提供一种快速的生物学手段.