Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?

Trisomy of the short arm of chromosome 4 is a well-known syndrome, and several observations have been made in the last 30 years. Herein, we report a new observation of trisomy 4p in a fetus with a semi-lobar holoprosencephaly (HPE), dysmorphic features and multiple malformations. The diagnosis of HPE was made, at 33 weeks' gestation, on the fetus of a healthy G1P0 woman. Amniocentesis was performed for chromosome analysis and additional material was found on a chromosome 22. The couple elected to terminate the pregnancy and fetal examination was realized. Conventional and molecular cytogenetic studies were performed on the fetus and the parents, which showed that the additional material found on one chromosome 22 corresponded to the short arm of chromosome 4 and therefore led us to establish a diagnosis of trisomy 4p inherited from the malsegregation of a paternal translocation t(4;22)(q12;q11.1). The etiology of HPE is very heterogeneous; it includes non-genetic factors such as maternal diabetes and genetic causes. HPE cases have been described in association with many chromosomal anomalies, trisomy 13 being the most frequent. However, to our knowledge, HPE has never been previously reported in association with a trisomy involving solely the short arm of chromosome 4. Copyright © 2005 John Wiley & Sons, Ltd.     

Deforestation and cattle expansion in the Paraguayan Chaco 1987–2012

Regional Environmental Change - The dry forests of Latin America are among the most dynamic deforestation frontiers in the world and are important carbon and biodiversity reservoirs. Our knowledge...     

Modeling non-point source pollution from rice farming in the Thachin River Basin

With the worldwide intensification of agriculture, non-point source pollution of surface waters has become a pressing issue. Conventional river water quality models consider non-point sources as accumulated entries into the rivers and do not investigate into the processes generating the pollution at its source, thus preventing the determination of effective mitigation measures. The models require extensive data inputs, which is a deficiency in many developing and emerging countries with limited data availability. The current study applies a Material Flow Model as a complementary approach to quantify non-point source pollution from agricultural areas. Rice farming in the Thachin River Basin is presented as a case study, with a focus on nutrients. The total nitrogen and phosphorus flows from rice farming to the river system are quantified, the key parameters influencing these flows are determined and potential mitigation measures are discussed. The results show that rice contributes considerable nutrient loads to the Thachin River Basin. Scenario simulations demonstrate that a significant nutrient load reduction could be achieved by following the official recommendations for fertilizer application, thus confirming the local efforts to introduce best management practice. Our results underline the importance of non-point source pollution control in intensive agricultural areas, particularly of tropical lowland delta areas such as the Central Plains of Thailand. The specific benefit of applying a Material Flow Model in this context is that with limited data availability, one can reach an understanding of the system and gain a first overview over its key pollution problems. This can serve as supportive basis for determining consecutive in-depth research requirements.     

Confronting limitations: new solutions required for urban water management in Kunming City

Despite continuous investment and various efforts to control pollution, urban water environments are worsening in large parts of the developing world. In order to reveal potential constraints and limitations of current practices of urban water management and to stimulate proactive intervention, we conducted a material flow analysis of the urban water system in Kunming City. The results demonstrate that the current efficiency of wastewater treatment is only around 25% and the emission of total phosphorous from the city into its receiving water, Dianchi Lake, is more than 25 times higher than its estimated tolerance. With regard to the crisis of water quantity and quality, the goal of a sustainable urban water environment cannot be attained with the current problem-solving approach in the region due to the technical limitations of the conventional urban drainage and treatment systems. A set of strategies is therefore proposed. The urban drainage system in Zurich is used as a reference for a potential best-available technology for conventional urban water management (BAT) scenario in terms of its low combined frequency of sewer overflow.