Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia

Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder of the urea cycle mapped to chromosome Xp21.1. Here, we show that apparent segregation of null alleles at the OTC locus and flanking polymorphic loci mimicked false maternity or false paternity in three affected families. Based on these observations, we suggest giving consideration to gene deletion when dealing with segregation of null alleles in OTC deficiency.     

Does breathing apparatus affect fish counts and observations? A comparison at three New Zealand fished and protected areas

Across three areas, open-circuit scuba (OC) and rebreather (RB) surveys produced similar results for the density and size distribution of fish species inside and outside marine reserves. At Tonga Island, more Notolabrus celidotus were counted with OC than with RB, independently of reserve status [log-scale response ratio of OC/RB (RR) = 0.7]. At Long Island, differences in abundance of Parapercis colias between sampling methods were small at reserve sites (RR = −0.1), but more were counted with scuba than with RBs at fished sites (RR = 0.5). RRs for Pagrus auratus were −1.0 in fished areas and 0.3 in the reserve at Leigh. We also sampled each site using a baited video system (BUV) to establish whether diver-transects sampled the full size range of target species. Most fish in BUV views were Parapercis colias at Long Island (97%), and Pagrus auratus at Leigh (77%). Size structures of Parapercis colias were similar among all three sampling methods within reserve and fished areas at Long Island (max. chi-squared distance = 0.11). BUV samples for Pagrus auratus at Leigh did not detect a prominent juvenile size class observed by divers, but size-frequency distributions of OC, RB, and BUV corresponded at sizes beyond 15 cm TL (max. chi-squared distance = 0.08). To investigate the effects of diver sound on fish behaviour at Long Island, we also compared fish activity when divers with RBs or scuba were present, when the sound of each breathing apparatus was replayed underwater, when no divers were present and no sound was replayed, and when bait was provided, within the reserve only. The lowest number of fish visits to the focal area (mean of 3.0 per 10 min) for Parapercis colias occurred with RB divers present. Maximum abundances of Parapercis colias in all speaker treatments averaged 4.1 per 10 min, whereas with scuba divers present maximum abundances were 5.7, and with baits the average was 38.0 per 10 min.     

Integrated Environmental Control

This paper provides an overview of integrated environmental control research and development efforts at the Electric Power Research Institute (EPRI). EPRI studies show that as much as a 50 percent reduction in total environmental control system costs for coal-fired power plants may be achievable by utilities using systematically integrated environmental control design methods. The bulk of these savings can be achieved through consolidation of several functions into one device. The remainder can come from improved plant heat rates, resulting in less fuel consumption and, thus, less flue gas to process and less emissions to control, and from eliminating unnecessary redundant control systems.     

Treatment of poor placentation and the prevention of associated adverse outcomes – what does the future hold?

Poor placentation, which manifests as pre-eclampsia and fetal growth restriction, is a major pregnancy complication. The underlying cause is a deficiency in normal trophoblast invasion of the spiral arteries, associated with placental inflammation, oxidative stress, and an antiangiogenic state. Peripartum therapies, such as prenatal maternal corticosteroids and magnesium sulphate, can prevent some of the adverse neonatal outcomes, but there is currently no treatment for poor placentation itself. Instead, management relies on identifying the consequences of poor placentation in the mother and fetus, with iatrogenic preterm delivery to minimise mortality and morbidity. Several promising therapies are currently under development to treat poor placentation, to improve fetal growth, and to prevent adverse neonatal outcomes. Interventions such as maternal nitric oxide donors, sildenafil citrate, vascular endothelial growth factor gene therapy, hydrogen sulphide donors, and statins address the underlying pathology, while maternal melatonin administration may provide fetal neuroprotection. In the future, these may provide a range of synergistic therapies for pre-eclampsia and fetal growth restriction, depending on the severity and gestation of onset. © 2014 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.     

Nation‐building policies in Timor‐Leste: disaster risk reduction,including climate change adaptation

Few studies have explored the relationships between nation‐building, disaster risk reduction and climate change adaptation. Focusing on small island developing states, this paper examines nation‐building in Timor‐Leste, a small island developing state that recently achieved independence. Nation‐building in Timor‐Leste is explored in the context of disaster risk reduction, which necessarily includes climate change adaptation. The study presents a synopsis of Timor‐Leste's history and its nation‐building efforts as well as an overview of the state of knowledge of disaster risk reduction including climate change adaptation. It also offers an analysis of significant gaps and challenges in terms of vertical and horizontal governance, large donor presence, data availability and the integration of disaster risk reduction and climate change adaptation for nation‐building in Timor‐Leste. Relevant and applicable lessons are provided from other small island developing states to assist Timor‐Leste in identifying its own trajectory out of underdevelopment while it builds on existing strengths.     

Applying DPSIR to sustainable development

The DPSIR framework was devised in the late 1990s as a tool for the reporting and analysis of environmental problems, ranging in scale from global systems to localized watersheds. Since then, international organizations have begun to apply this framework to the evaluation of sustainable development initiatives, to better understand and overcome barriers to sustainability. While this may seem a logical application for an integrated environmental assessment tool, the use of DPSIR in sustainable development will likely perpetuate the least satisfactory outcomes of development. DPSIR cannot address the impact of aggregated, informal responses on the drivers and pressures related to environmental problems and sustainability challenges. This problem is not merely an oversight of the framework, but an issue that emerges within the structure of DPSIR itself through the unexamined, unacknowledged hierarchy of actors that this framework implicitly creates with its typology. Therefore, a DPSIR-centered approach is not a new direction for development within international organizations, but instead, a reproduction of existing inequalities between actors and stakeholders within current approaches.     

A shell-based magnetic field model for magnetic proximity detection systems

Several magnetic proximity detection systems have been developed for mining vehicles and mobile machinery to protect nearby workers. Magnetic field generators are often used in these systems to establish magnetic fields around the equipment. A sensor worn by a worker provides a measurement of the magnetic flux density that is used to estimate the proximity to the machine. The proximity detection systems currently available for underground mining equipment are capable of identifying whether a worker is near the machine. However, it is a challenge for these systems to accurately locate the worker. Mining machines, which have fast-moving, articulated parts, present hazards that change depending on the situation at hand as well as the specific location of the worker. In addition, the dynamic nature and confined spaces of the mining environment often demand that the workers be close to the machinery. Therefore, in many cases, simply knowing the proximity of a worker may be inadequate. To provide the most effective protection, it would be advantageous to know the worker’s exact location relative to specific parts of the machine. To lay the foundation for measuring such a location, we have developed a shell-based model of the magnetic flux density distribution for a ferrite-cored generator. This paper will present an analysis of the model along with a model construction process. Also presented are the laboratory test results of a prototype system that implements this model to determine the exact location of a magnetic sensor using the fields from two generators.     

Diversity and adaptation of shelters in transitional settlements for IDPs in Afghanistan

The diversity of shelters used in transitional settlements for internally displaced persons (IDPs) in Herat, Afghanistan is described. The information is based on a field survey undertaken in March 2002 and highlights the adaptation techniques, which IDPs undertake to improve any provided shelter. Potential areas for improvement are indicated; for example, the possibility for using insulated, demountable liners to prevent cold-related deaths without sacrificing shelter flexibility along with the likely need for better agency coordination of the shelter responses they provide. The wider context in which the technical recommendations would be implemented must also be considered. Such issues include agency resources, political impediments to providing the desired option, and the preference of many IDPs that the best shelter would be their home.