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Paolo Prontera Barbara Buldrini Vincenzo Aiello Rita Gruppioni Alessandra Bonfatti Giovanna Venti Alessandra Ferlini Alberto Sensi Elisa Calzolari Emilio Donti 《黑龙江环境通报》2006,26(6):571-576
We describe a 4-year-old female child with severe global mental retardation, myoclonic epilepsy, proximal hypotonia and dysmorphisms, whose prenatal diagnosis following amniocentesis revealed a constitutional female karyotype carrying a t(1;15)(q10;p11) familial reciprocal translocation. Post-natal high-resolution karyotype, Fluorescence in situ hybridization (FISH) screening for subtelomeric rearrangements, VNTR search for UPD15 in the blood and fibroblast, and WCP1 and 15 in the mother, failed to provide an explanation for the complex clinical phenotype of the proband. Since the pachytene configuration of the translocated chromosomes defines a high probability of 3:1 segregation, an extensive workup was undertaken to look for a possibly cryptic mosaicism. Four percent of the cells with trisomy 15 was found in the peripheral blood lymphocytes examined by classical cytogenetic technique and interphase FISH analysis. The clinical features associated with cryptic trisomy 15 mosaicism and the problems concerning prenatal diagnosis and genetic counselling for carriers of translocations at high risk of 3:1 segregation are discussed. Copyright © 2006 John Wiley & Sons, Ltd. 相似文献
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Gabrio Valotto Giancarlo Rampazzo Francesco Gonell Gianni Formenton Silvia Ficotto Giorgia Giraldo 《环境科学学报(英文版)》2017,29(4):77-89
n-Alkanes and polycyclic aromatic hydrocarbons (PAHs) bound to atmospheric particulate matter (PM1) were investigated in a traffic site located in an urban area of Venice Province (Eastern Po Valley, Italy) during the cold season. Considering the critical situation affecting the Veneto Region concerning the atmospheric pollution and the general lack of information on PM1 composition and emission in this area, this experimental study aims at determining the source profile, their relative contributions and the dispersion of finer particles. Four sources were identified and quantified using the Positive Matrix Factorization receptor model: (1) mixed combustions related to the residential activities, (2) agricultural biomass burning in addition to the resuspension of anthropogenic and natural debris carried by the wind, (3) gasoline and (4) diesel traffic-related combustions. The role of local atmospheric circulation was also investigated to identify the pollutant sources. 相似文献
195.
X-linked hydrocephalus, HSAS (hydrocephalus due to stenosis of aqueduct of Sylvius), MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs), and CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndromes are allelic disorders. X-linked hydrocephalus and associated phenotypes are due to mutations in the L1CAM gene, which has been identified as a coding neural cell adhesion molecule. We report two cases of L1 spectrum disorders within the same family. The first case was diagnosed by ultrasonographic examination prenatally and the second case was diagnosed postnatally. Both patients and their mothers carry a novel mutation of the L1CAM gene. In this family, nine X-linked hydrocephalus and five female carriers were found in three generations, and molecular genetic analysis was performed to detect the asymptomatic carriers. Copyright © 2005 John Wiley & Sons, Ltd. 相似文献
196.
为准确评价管制员安全能力,基于能力的定义和管制员工作职责,界定管制员安全能力的内涵;依据该内涵及其工作特性,建立由身体素质、业务素质和意识3个结构维度组成的管制员安全能力模型。其中,身体素质包括生理状况和心理状况;业务素质包括教育状况、培训状况、技能状况和经验状况;意识包括安全意识和工作意识。在各项指标性质差异较大情况下,利用功效系数法实现评价指标的标准化以减小误差,客观反映指标情况,同时采用G1-法和熵值法集成的主客观综合赋权法确定指标的权重,在一定程度上弥补主客观单一赋权的不足,最后通过逼近理想解排序法(TOPSIS)评价管制员安全能力。结果表明,按照从大到小排序对管制员安全能力的影响因素依次为意识、身体素质和业务素质。就对所论能力的影响而言,心理状况强于生理状况;技能状况强教育、培训和经验状况;安全意识对意识的影响大于工作意识。 相似文献
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Şeyda Fikirdeşici Ergen Esra Üçüncü Tunca Alper Devrim Ozkan Tolga Tarkan Ölmez Emrah Acaröz Ahmet Altındağ 《Chemistry and Ecology》2013,29(5):455-465
The accumulations of Al, Cd, Cr, Cu, Fe, Ni, Pb and Zn in the exoskeleton, gills, hepatopancreas and abdominal muscles of crayfish Astacus leptodactylus (Eschscholtz, 1823) were determined. The strongest correlation observed was between Cr and Ni in the gills (r?=?0.904); moderate to strong correlations between Al, Cr, Fe, Ni and Cu were also observed in gill tissue. Disregarding the gills, the strongest correlation was found between Cu and Zn in the hepatopancreas (r?=?0.808); the correlation between these two metals might have been a result of metallothionein activity. The accumulation of Pb was found to correlate with that of Cd in the exoskeleton, Cd and Zn in the gills, Zn and Cu in the hepatopancreas and Cu in the abdominal muscle. None of these correlations were present in lakewater and sediment samples, suggesting that the crayfish metabolism may be responsible for the co-accumulation of metal–metal pairs. As all correlations in non-gill tissues are observed between divalent metals, a shared transporter such as divalent metal transporter 1 might be involved in the accumulation of these metals. 相似文献
199.
A spore germination-based concept and its transformation into a field level prototype for monitoring aflatoxin M1 (AFM1) in milk was developed. Initially, 15 strains of Bacillus spp. procured from different culture collection were screened for AFM1 sensitivity using spot assay and marker strain showing inhibition at 0.5 ppb was selected based upon maximum zone of inhibition. The selected strain B. megaterium 2949 was further screened for different enzymes activities and subsequently its spores were produced to an extent of 73.13% ± 3.197% in newly developed sporulation medium containing beef extract (0.0075% ± 0.0004%), yeast extract (0.015% ± 0.001%), peptone (0.0375% ± 0.0016%), and sodium chloride (0.0375% ± 0.0018%). A spore germination-based concept/ assay was optimized by immobilizing spores in eppendorf with pretreated milk (80°C/15 min) containing germinant and chromogenic substrate followed by incubation at 37°C. The appearance of sky blue color within real time of 45 min indicated spores germination and release of specific marker enzyme such as acetyl esterase and its specific action on chromogenic substrate which demonstrates absence of AFM1 in milk. However, if there was no color change, presence of AFM1 at 0.5 ppb MRL was denoted by Codex. The developed concept on AFM1 detection was validated and a correlation of 0.97 was established with AOAC approved Charm 6602 and ELISA at Codex MRL with minimal false positive and negative results. The cost effective test has potential application in dairy farms, manufacturing, and R&D units for routine monitoring of AFM1 in milk. 相似文献
200.
This study was a preliminary step to evaluate the acute toxicity of 1-methyl-3-octylimidazolium chloride ([C8mim]Cl) on loach (Misgurnus anguillicaudatus) by determining the effects on hepatic antioxidant enzyme activities and by the comet assay. The results showed that [C8mim]Cl had acute toxicity at concentrations above 20 mg L?1, inducing oxidative stress and genotoxicity on fish liver cells. In respect to enzyme activities, [C8mim]Cl induced changes in the activities of superoxide dismutase, catalase, and glutathione content the livers of fish exposed at 20–80 mg L?1. [C8mim]Cl at the same exposure level caused a remarkable increase in malondialdehyde level. The comet assay indicated that [C8mim]Cl at 20–80 mg L?1 induced genotoxicity in liver cells. With increased exposure concentration and time, the two comet parameters trailing rate and tail moment were significantly increased, with significant differences (P < 0.05) observed between control group and each treatment group. The present study shows that ionic liquids can be a threat to the health of aquatic organism when accidentally released to aquatic ecosystems. 相似文献