Management of infertility in a patient presenting with ovarian dysfunction and McCune-Albright syndrome

Persistent autonomous ovarian dysfunction in McCune-Albright syndrome (MAS) patients is associated with the development of multiple dominant follicles, premature luteinization, cyst formation, and anovulatory infertility. Due to the mosaic distribution of the mutation, ovaries may be unequally affected. In the current patient, the least affected ovary became quiescent upon GnRH agonist-induced gonadotropin suppression. Normoovulatory cycles were restored after subsequent removal of the affected right ovary, and a pregnancy was established within 3 months. A healthy unaffected girl was born at term after an uneventful pregnancy. The placental tissue was normal, and the mutation was not detected in the placenta, umbilical cord structures, or umbilical cord blood. GnRH analog administration may help to identify those MAS patients who might benefit from unilateral ovariectomy. Because a healthy baby was born, evidence is provided suggesting that MAS is not passed on to the children from the parents

Engaging stakeholders in research to address water-energy-food (WEF) nexus challenges

The water–energy–food (WEF) nexus has become a popular, and potentially powerful, frame through which to analyse interactions and interdependencies between these three systems. Though the case for transdisciplinary research in this space has been made, the extent of stakeholder engagement in research remains limited with stakeholders most commonly incorporated in research as end-users. Yet, stakeholders interact with nexus issues in a variety of ways, consequently there is much that collaboration might offer to develop nexus research and enhance its application. This paper outlines four aspects of nexus research and considers the value and potential challenges for transdisciplinary research in each. We focus on assessing and visualising nexus systems; understanding governance and capacity building; the importance of scale; and the implications of future change. The paper then proceeds to describe a novel mixed-method study that deeply integrates stakeholder knowledge with insights from multiple disciplines. We argue that mixed-method research designs—in this case orientated around a number of cases studies—are best suited to understanding and addressing real-world nexus challenges, with their inevitable complex, non-linear system characteristics. Moreover, integrating multiple forms of knowledge in the manner described in this paper enables research to assess the potential for, and processes of, scaling-up innovations in the nexus space, to contribute insights to policy and decision making

The challenges of developing rainfall intensity-duration-frequency curves and national flood hazard maps for the Caribbean

In many Caribbean countries a lack of established good practice methods means that engineers and planners are often unable to plan for and mitigate floods effectively. In most Caribbean states rainfall intensity – duration – frequency (IDF) curves are not readily available. This is a result of the limited quantity of short duration rainfall data available and also because the few IDF curves that have been developed in the region are generally not in the public domain. The lack of readily available IDF curves in the region often results in engineers responsible for the design of key infrastructure inappropriately “transferring” IDF curves developed for islands, where rainfall is less intense, for use in their designs. There are no countries in the Caribbean with nationally consistent flood hazard maps. This often leaves spatial and emergency planners with insufficient information to make important strategic decisions. This paper details the challenges that were faced in producing rainfall IDF curves for return periods up to 1 in 50 years and nationally consistent extreme fluvial flood extent maps with limited data for selected countries within the Caribbean. Recommendations are made for the future development of rainfall IDF curves and national flood maps in the region both in terms of data and organisational requirements

Validating the return period of rainfall thresholds used for Extreme Rainfall Alerts by linking rainfall intensities with observed surface water flood events

In 2008, the Environment Agency and the Meteorological Office launched a pilot Extreme Rainfall Alert (ERA) service as a first step towards providing a warning for surface water flooding. An ERA is based on rainfall intensity thresholds of an average of 1-in-30 year storms, to represent rainfall thought likely to cause severe surface water flooding in urban areas. This research investigates whether this return period is appropriate for warning of surface water flooding by examining the intensity and return period of rainfall associated with observed surface water flood (SWF) events. Data from rainfall gauges and flood events were analysed which showed that most of the SWF events were associated with rainfall intensities of less than 1-in-10 year return period. Improvements in data recording could provide flood magnitudes and durations, which would facilitate better understanding of the relationship between flood magnitude and rainfall intensity and allow more informed debate about SWF warning thresholds

Complete androgen insensitivity syndrome due to a new frameshift deletion in exon 4 of the androgen receptor gene: Functional analysis of the mutant receptor

We studied the androgen receptor gene in a large kindred with complete androgen insensitivity syndrome and negative receptor-binding activity, single-strand conformation polymorphism (SSCP) analysis and sequencing identified a 13 base pair deletion within exon 4. This was responsible for a predictive frameshift in the open reading frame and introduction of a premature stop codon at position 783 instead of 919. The deletion was reproduced in androgen receptor wildtype cDNA and transfected into mammalian cells. Western blot showed a smaller androgen receptor of 94 kDa for the transfected mutated cDNA instead of 110 kDa. Androgen-binding assay of the mutated transfected cells assessed the lack of androgen-binding. Gel retardation assay demonstrated the ability of the mutant to bind target DNA; however, the mutant was unable to transactivate a reporter gene. Although the role of the partial deletion in the lack of androgen action was expected, in vitro analyses highlight the role of the abnormal C-terminal portion in the inhibition of the receptor transregulatory activity of the protein causing androgen resistance in this family

Experiences and advances in the use of the Life Safety Model to assist flood evacuation planning

Poster presented at this conference

Use of agent-based modelling to validate hurricane evacuation planning

Justification for evacuation and evacuation planning is sometimes questioned and there is a need develop approaches which justify the planning and associated expenditure. To this end, it was decided to carry out a pilot evaluation of the impact of a Hurricane Storm surge flooding on Brunswick, GA using a dynamic Agent Based Model that represents people's interaction with a flood and provides estimates of the number of people that are likely to be killed as a result of a flood event, as well as the time that is required for them to evacuate the area at risk. Climate change increase of 3ft in mean sea level would increase the population at risk in Brunswick by 20% for a category 4 hurricane. The modelling shows that for a category 4 hurricane managed evacuation can significantly reduce the number of fatalities

Exorcising Malthusian ghosts: Vaccinating the Nexus to advance integrated water, energy and food resource resilience

Water-Energy-Food (WEF) Nexus interactions vary from seemingly negative and intractable wicked problems to opportunities for enhanced sustainability. The aim of this paper is to review the current state of understanding on WEF resource interactions and to provide a roadmap to enhance integrated resource management. A qualitative perspective based on expert insight and experience was supported by a more quantitative systematic analysis of the literature to define Nexus interactions, describe the nature of different challenges, and explore the factors that influence them. We found that Nexus challenges, and associated interactions (e.g. trade-offs and synergies), vary with complexity and spatial and temporal scale, and biases in research and culture act as barriers to progress. An interdisciplinary approach is needed to develop technical solutions employed through the use of orchestrated shocks (e.g. historic analogues, predictive modelling, experimentation, and scenario planning) to “Vaccinate the Nexus” and improve system resilience. To achieve this, multidisciplinary capability should be developed to solve interdisciplinary challenges, while protecting specialism. It is recognised that through embracing complexity and “Nexus (or Systems) Thinking”, future integration of resource management may be facilitated through holistic education, informed by interdisciplinary research, and ingrained in cross-sector policy and governance