Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis.

BACKGROUND: Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This study describes the first prenatal diagnosis of OCS. CASE PRESENTATION: In this case prenatal ultrasound images were suggestive of a serious but non-lethal skeletal dysplasia. Due to the uncertain prognosis the parents were offered Whole Exome Sequencing (WES), which identified a specific gene mutation in the FAMIIIa gene. This mutation had previously been detected in two cases and was lethal in both perinatally. This established the diagnosis, a clear prognosis and allowed informed parental choice regarding ongoing pregnancy management. CONCLUSIONS: This case report supports the use of targeted WES prenatally to confirm the underlying cause and prognosis of sonographically suspected abnormalities

Application of Remote Sensing to the Chesapeake Bay Region. Volume 2: Proceedings

A conference was held on the application of remote sensing to the Chesapeake Bay region. Copies of the papers, resource contributions, panel discussions, and reports of the working groups are presented

Application of Remote Sensing to the Chesapeake Bay Region. Volume 1: Executive summary

The proceedings are presented of a conference, jointly sponsored by the National Aeronautics and Space Administration, the U.S. Environmental Protection Agency, and the University of Maryland. The purpose of the Conference was to assemble representatives of federal and state government agencies engaged in research on the condition and evolution of the Chesapeake Bay to compose a status report, to present current activities and future plans, and to recommend a long-range future course of policies and programs

Rapid Targeted Gene Disruption in Bacillus Anthracis

Anthrax is a zoonotic disease recognized to affect herbivores since Biblical times and has the widest range of susceptible host species of any known pathogen. The ease with which the bacterium can be weaponized and its recent deliberate use as an agent of terror, have highlighted the importance of gaining a deeper understanding and effective countermeasures for this important pathogen. High quality sequence data has opened the possibility of systematic dissection of how genes distributed on both the bacterial chromosome and associated plasmids have made it such a successful pathogen. However, low transformation efficiency and relatively few genetic tools for chromosomal manipulation have hampered full interrogation of its genome. Results: Group II introns have been developed into an efficient tool for site-specific gene inactivation in several organisms. We have adapted group II intron targeting technology for application in Bacillus anthracis and generated vectors that permit gene inactivation through group II intron insertion. The vectors developed permit screening for the desired insertion through PCR or direct selection of intron insertions using a selection scheme that activates a kanamycin resistance marker upon successful intron insertion. Conclusions: The design and vector construction described here provides a useful tool for high throughput experimental interrogation of the Bacillus anthracis genome and will benefit efforts to develop improved vaccines and therapeutics.Chem-Bio Diagnostics program from the Department of Defense Chemical and Biological Defense program through the Defense Threat Reduction Agency (DTRA) B102387MNIH GM037949Welch Foundation F-1607Cellular and Molecular Biolog

Estimating the functional form for the density dependence from life history data

Two contrasting approaches to the analysis of population dynamics are currently popular: demographic approaches where the associations between demographic rates and statistics summarizing the population dynamics are identified; and time series approaches where the associations between population dynamics, population density, and environmental covariates are investigated. In this paper, we develop an approach to combine these methods and apply it to detailed data from Soay sheep (Ovis aries). We examine how density dependence and climate contribute to fluctuations in population size via age- and sex-specific demographic rates, and how fluctuations in demographic structure influence population dynamics. Density dependence contributes most, followed by climatic variation, age structure fluctuations and interactions between density and climate. We then simplify the density-dependent, stochastic, age-structured demographic model and derive a new phenomenological time series which captures the dynamics better than previously selected functions. The simple method we develop has potential to provide substantial insight into the relative contributions of population and individual-level processes to the dynamics of populations in stochastic environments

Nontarget Effects—The Achilles’ Heel of Biological Control? Retrospective Analyses to Reduce Risk Associated with Biocontrol Introductions

Controversy exists over ecological risks in classical biological control. We reviewed 10 projects with quantitative data on nontarget effects. Ten patterns emerged: (a) Relatives of the pest are most likely to be attacked; (b) host-specificity testing defines physiological host range, but not ecological range; (c) prediction of ecological consequences requires population data; (d) level of impact varied, often in relation to environmental conditions; (e) information on magnitude of nontarget impact is sparse; ( f ) attack on rare native species can accelerate their decline; (g) nontarget effects can be indirect; (h) agents disperse from agroecosystems; (i) whole assemblages of species can be perturbed; and ( j ) no evidence on adaptation is available in these cases. The review leads to six recommendations: Avoid using generalists or adventive species; expand host-specificity testing; incorporate more ecological information; consider ecological risk in target selection; prioritize agents; and pursue genetic data on adaptation. We conclude that retrospective analyses suggest clear ways to further increase future safety of biocontrol