McKusik-Kaufman syndrome: prenatal diagnosis,genetics and follow up

McKusick-Kaufman syndrome (MKKS) is a rare autosomal recessive genetic disease with classical hexadactyly and hydrocolpos in females and sometimes cardiac abnormality. We report such a case diagnosed just before birth with a favourable outcome. From this case we describe and discuss all the prenatal sonographic signs which are not always present. On the genetic side, the gene has recently been localized together with the mutation responsible for MKKS. The phenotypic relationship between MKKS which has a good prognosis and Bardet-Biedl syndrome (BBS) with a worse prognosis requires great caution before diagnosing MKKS and a long follow-up is necessary to recognize obesity, growth retardation and pigmentary retinitis. Copyright © 2002 John Wiley & Sons, Ltd.     

Passive Treatment Alternatives for Remediating Abandoned‐Mine Drainage

Abandoned‐mine drainage (AMD) is drainage flowing from or caused by surface mining, deep mining, or coal refuse piles that is typically highly acidic with elevated levels of dissolved metals. AMD results from the interactions of certain sulfide minerals with oxygen, water, and bacteria. Passive treatment systems have been used to remediate AMD at numerous sites throughout the United States. The theory behind passive treatment is to allow naturally occurring chemical, biological, and physical reactions that aid in AMD treatment to occur in the controlled environment of the system, not in the receiving water body. The advantages of passive treatment over active treatment include lower operation and maintenance costs, virtually no use of chemicals, and minimal energy consumption. The disadvantages are that smaller volumes of water are treated than with active systems, and discharges with high concentrations of dissolved metals and extremes of pH may have to be treated several times within one system to treat the discharge. AMD passive treatment systems include aerobic treatment systems and anaerobic treatment systems. It is estimated that it will take 50 years and between $5 billion and $15 billion to remediate all AMD problems in Pennsylvania. © 2001 John Wiley & Sons, Inc.     

False-positive diagnosis of trisomy 21 using fluorescence in situ hybridisation (FISH) on uncultured amniotic fluid cells

An amniocentesis was performed on a 22-week pregnancy following the detection of foetal abnormalities on ultrasound. A rapid aneuploid screen using fluorescence in situ hybridisation on uncultured amniotic fluid cells revealed 3 signals for chromosome 21, consistent with trisomy 21. In situ metaphase cultures revealed a 46,XY normal male karyotype. These discordant results may be explained by a sub-standard batch of the commercially available probe or alternatively, a very specific variation within the sample interacting with the probe. Alternative strategies are proposed in order to safeguard against inappropriate clinical action as a consequence of discordant results. Copyright © 2003 John Wiley & Sons, Ltd.     

Etiology of fatal thoracic aortic injuries: Secondary data analysis

Objectives: Motor vehicle crashes remain a leading cause of death in the United States (US). Thoracic aortic dissection due to blunt trauma remains a major injury mechanism, and up to 90% of these injuries result in death on the scene. The objective of this study is to understand the modern risk factors and etiology of fatal thoracic aortic injuries in the current US fleet.

Methods: Using a unique, linked, Fatality Analysis Reporting System (FARS) and Multiple Cause of Death (MCOD) database from 2000–2010, 144,169 drivers over 16 years of age who suffered fatal injuries were identified. The merged database provides an unparalleled fidelity for identifying thoracic aortic injuries due to motor vehicle accidents. Thoracic aortic injuries were defined by ICD-10 codes S250. Univariate and multivariate logistic regression models for presence of any thoracic aortic injuries were fitted. Age, gender, BMI weight categories, vehicle class, model year, crash type/direction, severity of crash damage, airbag deployment location, and seatbelt use, fatal injury codes, and location of injury were considered. Odds ratios (OR) and corresponding 95% confidence intervals (95%CI) are calculated.

Results: There were 2953 deaths (2.10%) related to thoracic aortic injuries that met the inclusion criteria. Nearside crashes were associated with an increased odds (OR = 1.42, 1.1-1.83), while rollover crashes (OR =.44,.29-.66) were associated with a reduced odds of fatal thoracic aortic injury. Using backward selection on the full multivariate model, the only significant model effects that remained were vehicle type, crash type, body region, and injury type.

Conclusions: The increased prevalence of fatal thoracic aortic injury in nearside crashes, increasing age, and vehicle type provide some insight into the current US fleet. Important factors, including model year, had significantly lower levels of the injury in univariate analysis, demonstrating the effect of safety improvements in newer model vehicles. Further study of this fatal injury is warranted, including comparisons of those who survive the injury.     

Growth of the Decision Tree: Advances in Bottom‐Up Climate Change Risk Management

There has recently been a return in climate change risk management practice to bottom‐up, robustness‐based planning paradigms introduced 40 years ago. The World Bank's decision tree framework (DTF) for “confronting climate uncertainty” is one incarnation of those paradigms. In order to better represent the state of the art in climate change risk assessment and evaluation techniques, this paper proposes: (1) an update to the DTF, replacing its “climate change stress test” with a multidimensional stress test; and (2) the addition of a Bayesian network framework that represents joint probabilistic behavior of uncertain parameters as sensitivity factors to aid in the weighting of scenarios of concern (the combination of conditions under which a water system fails to meet its performance targets). Using the updated DTF, water system planners and project managers would be better able to understand the relative magnitudes of the varied risks they face, and target investments in adaptation measures to best reduce their vulnerabilities to change. Next steps for the DTF include enhancements in: modeling of extreme event risks; coupling of human‐hydrologic systems; integration of surface water and groundwater systems; the generation of tradeoffs between economic, social, and ecological factors; incorporation of water quality considerations; and interactive data visualization.     

An online platform supporting the analysis of water adaptation measures in the Alps

Climate change may result in reduced water supply from the Alps – an important water resource for Europe. This paper presents a multilingual platform that combines spatial and multi-criteria decision-support tools to facilitate stakeholder collaboration in the analysis of water management adaptation options. The platform has an interactive map interface that allows participants to select a location of their interest within the Alpine Arc. By utilising the decision-support tool, stakeholders can identify suitable adaptation solutions for different geographical units, according to their experience and preference. The platform was used to involve experts across Alpine borders, domains and decision-making levels, as well as a group of university students. The experts favoured the planning instruments for saving water, while the students inclined towards the measures that would improve water conservation. The initial results confirmed the suitability of the platform for future involvement of decision-makers in spatio-temporal analyses of adaptation pathways in the Alps.