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141.
Anna Lisa Nucaro Rossano Rossino Dario Pruna Stefania Rassu Carlo Cianchetti Antonio Cao Paolo Moi 《黑龙江环境通报》2006,26(5):418-419
We describe the first case of mosaic supernumerary marker iso (8p) displaying a karyotype discordance between chorionic villi (CV) and amniotic fluid (AF) cultures during prenatal cytogenetic diagnosis. In the first trimester, cytogenetic analysis after chorionic villi sampling (CVS) was normal in all metaphases in the short-term cytotrophoblast cell culture, but an undefined supernumerary marker was detected in 60% of mesenchymal cells in the long-term CV culture. Informed of the mosaicism, the couple selected amniotic fluid sampling as a second-trimester confirmatory diagnostic procedure. The supernumerary marker was absent in all of the 25 available AF cells metaphases. The prospective parents received genetic counselling and were informed that the discordance could be interpreted as a placental confined mosaicism or as a true foetal mosaicism with low percentage of affected cells. The couple opted to continue the pregnancy. In the second month of life, the child had abnormal development with severe psychomotor delay and frequent episodes of epilepsy. Postnatal cytogenetic extensive re-evaluation discovered that the previously detected supernumerary marker was indeed an isochromosome (8p) rearrangement present at low frequency in 5% of the blood lymphocytes. Copyright © 2006 John Wiley & Sons, Ltd. 相似文献
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Martin B. Delatycki Fowzan Alkuraya Alison Archibald Carlo Castellani Martina Cornel Wayne W. Grody Lidewij Henneman Adonis S. Ioannides Edwin Kirk Nigel Laing Anneke Lucassen John Massie Juliette Schuurmans Meow-Keong Thong Irene van Langen Joël Zlotogora 《黑龙江环境通报》2020,40(3):301-310
Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to inform people about their risk of having children with autosomal recessive and X-linked recessive disorders, to allow for informed decision making about reproductive options. The consequence may be a decrease in the birth prevalence of these conditions, which has occurred in several countries for some conditions. Different programs target different groups (high school, premarital, couples before conception, couples attending fertility clinics, and pregnant women) as does the governance structure (public health initiative and user pays). Ancestry-based offers of screening are being replaced by expanded carrier screening panels with multiple genes that is independent of ancestry. This review describes screening in Australia, Cyprus, Israel, Italy, Malaysia, the Netherlands, Saudi Arabia, the United Kingdom, and the United States. It provides an insight into the enormous variability in how reproductive carrier screening is offered across the globe. This largely relates to geographical variation in carrier frequencies of genetic conditions and local health care, financial, cultural, and religious factors. 相似文献
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Giovanna Armiento Fabio Bellatreccia Carlo Cremisini Giancarlo Della Ventura Elisa Nardi Renata Pacifico 《Environmental monitoring and assessment》2013,185(1):559-572
Beryllium is widely distributed in soils at low levels, but it can also occur naturally in higher concentrations in a variety of materials exploited for many industrial applications. Beryllium is also one of the most toxic natural elements and is known to be a human carcinogen. A concise account of the literature data on baseline concentrations of Be in soils illustrates the possibility of worldwide presence of areas with a high natural background concentration of Be (up to 300 mg/kg), the crustal abundance of which is generally estimated to be in the range 2–6 mg/kg. Nevertheless, the number of available data is rather limited in comparison with those about other toxic elements such as Pb, Cd and Cr. This has probably caused the choice of low values of concentration level as the reference for the definition of soil contamination: these values are not always realistic and are not applicable to large areas. As a case study, we report and analyse a diffuse, unusually high (up to 80 mg/kg, average approximately 20 mg/kg), natural occurrence of beryllium in loose and poorly consolidated pyroclastic layers related to the Pleistocene activity of the Vico volcano. Additionally, the analysis of Be leachability has been carried out, providing evidence of a not negligible mobility in contrast with the scarce data presented in the literature that usually indicate beryllium as an element with low mobility in oxidising surface environmental conditions. This research marks the beginning of a possible reappraisal of beryllium geochemical behaviour and background levels, providing more realistic reference values for risk assessment and land management. 相似文献
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Pharmaceuticals in the Environment in Italy: Causes, Occurrence, Effects and Control 总被引:1,自引:1,他引:0
Zuccato E Castiglioni S Fanelli R Reitano G Bagnati R Chiabrando C Pomati F Rossetti C Calamari D 《Environmental science and pollution research international》2006,13(1):15-21
- DOI: http://dx.doi.org/10.1065/espr2006.01.004
Background, Aim and Scope Environmental contamination by pharmaceuticals is an emerging issue. Until recently, information on medicinal substances
released into the environment was scant, but several studies have now been published. Data are, however, usually scattered
and a systematic approach to this subject is generally lacking. Moreover, because of differences in the prevalence of diseases,
treatment habits and options, or simply for market reasons, the pollution profile can differ significantly in different countries.
The aim of this work is to review the papers dealing with environmental contamination by pharmaceuticals in Italy, with the
aim of providing a comprehensive view on a national scale.
Methods Papers related to environmental contamination by pharmaceuticals in Italy were reviewed, in order to offer a comprehensive
view of this subject. Topics included analysis, occurrence, monitoring, modelling, treatment, control of the emissions, and
ecotoxicological effects of pharmaceuticals in the environment.
Results and Conclusion The literature suggests that pharmaceuticals are widespread contaminants, entering the environment from a myriad of scattered
points. Patients, in case of drugs for human use, or animals for veterinary drugs, are the main sources of contamination.
Pharmaceuticals can be ranked according to environmental loads, predicted by multiplying sales figures by the rate of metabolism
in man or animals. Priority pharmaceuticals, i.e. the molecules of concern for the environment, can be measured in waste and
surface water by liquid chromatography-tandem mass spectrometry, and the loads detected are generally comparable to the predicted
ones. Pharmaceuticals are designed to stimulate a response in humans and animals at low doses, with a very specific target,
so the implications for human health and the environment need to be assessed. In vitro and in vivo studies suggest that pharmaceutical
principles, taken singularly or in combinations, and concentrations close to those detected in the environment, may have ecotoxicological
effects. The sewage system is an important point in the control of contamination, but sewage treatment plants are not able
efficiently to abate a substantial part of water-borne pharmaceuticals. Several variables play a role, however, in the processes
of waste water treatment, and could be specifically adjusted to improve the efficiency of drug abatement, mitigating the potential
environmental hazards.
Recommendation and Perspective Pharmaceuticals in the environment are becoming a subject of global concern, with potential environmental consequences. Further
knowledge of the causes, occurrence and effects of drugs as environmental pollutants is necessary for a better understanding
of this ecological issue, as well as to improve abatement strategies, and to mitigate subtle environmental consequences. 相似文献
149.
IntroductionRecent years have witnessed a growing interest in improving bus safety operations worldwide. While in the United States buses are considered relatively safe, the number of bus accidents is far from being negligible, triggering the introduction of the Motor-coach Enhanced Safety Act of 2011.MethodThe current study investigates the underlying risk factors of bus accident severity in the United States by estimating a generalized ordered logit model. Data for the analysis are retrieved from the General Estimates System (GES) database for the years 2005–2009.ResultsResults show that accident severity increases: (i) for young bus drivers under the age of 25; (ii) for drivers beyond the age of 55, and most prominently for drivers over 65 years old; (iii) for female drivers; (iv) for very high (over 65 mph) and very low (under 20 mph) speed limits; (v) at intersections; (vi) because of inattentive and risky driving. 相似文献
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