Cornelia de Lange Syndrome in association with a balanced reciprocal translocation involving chromosomes 3 and 5

We present a case report on a fetus with multiple malformations, diagnosed by ultrasound at 20 weeks' gestation. From the combination of intrauterine growth retardation and limb abnormalities that were observed, the most likely diagnosis was considered to be Cornelia de Lange Syndrome (CdLS). Following counselling, the mother opted to terminate the pregnancy. Chromosome analysis of cultured amniotic fluid cells showed a karyotype of 46,XX,t(3;5)(q21;p13). Postmortem examination of the baby confirmed the presence of features consistent with a diagnosis of CdLS. This case provides a report of a definitive diagnosis of Cornelia de Lange Syndrome, suspected on the basis of ultrasound imaging and confirmed by amniocentesis findings. Copyright © 2005 John Wiley & Sons, Ltd.     

Demographic Consequences of Terrestrial Habitat Loss for Pool‐Breeding Amphibians: Predicting Extinction Risks Associated with Inadequate Size of Buffer Zones

Abstract: Much of the biodiversity associated with isolated wetlands requires aquatic and terrestrial habitat to maintain viable populations. Current federal wetland regulations in the United States do not protect isolated wetlands or extend protection to surrounding terrestrial habitat. Consequently, some land managers, city planners, and policy makers at the state and local levels are making an effort to protect these wetland and neighboring upland habitats. Balancing human land‐use and habitat conservation is challenging, and well‐informed land‐use policy is hindered by a lack of knowledge of the specific risks of varying amounts of habitat loss. Using projections of wood frog (Rana sylvatica) and spotted salamander (Ambystoma maculatum) populations, we related the amount of high‐quality terrestrial habitat surrounding isolated wetlands to the decline and risk of extinction of local amphibian populations. These simulations showed that current state‐level wetland regulations protecting 30 m or less of surrounding terrestrial habitat are inadequate to support viable populations of pool‐breeding amphibians. We also found that species with different life‐history strategies responded differently to the loss and degradation of terrestrial habitat. The wood frog, with a short life span and high fecundity, was most sensitive to habitat loss and isolation, whereas the longer‐lived spotted salamander with lower fecundity was most sensitive to habitat degradation that lowered adult survival rates. Our model results demonstrate that a high probability of local amphibian population persistence requires sufficient terrestrial habitat, the maintenance of habitat quality, and connectivity among local populations. Our results emphasize the essential role of adequate terrestrial habitat to the maintenance of wetland biodiversity and ecosystem function and offer a means of quantifying the risks associated with terrestrial habitat loss and degradation.     

Negative Off‐Site Impacts of Ecological Restoration: Understanding and Addressing the Conflict

Abstract: Ecological restoration is a key component of biological conservation. Nevertheless, unlike protection of existing areas, restoration changes existing land use and can therefore be more controversial. Some restoration projects negatively affect surrounding landowners, creating social constraints to restoration success. Just as negative off‐site impacts (i.e., negative externalities) flow from industrial areas to natural areas, restoration projects can generate negative externalities for commercial land uses, such as agriculture. Negative externalities from industry have led to government regulation to prevent human health and environmental impacts. Negative externalities from restoration projects have elicited similar legal constraint on at least one large‐scale conservation project, riparian restoration in the Sacramento River Conservation Area. The negative externalities of restoration that are perceived to be the direct result of specific goals, such as endangered species management, are likely to be more contentious than externalities arising from unintended phenomena such as weed invasion. Restoration planners should give equal consideration to off‐site characteristics as to on‐site characteristics when choosing sites for restoration and designing projects. Efforts to control externalities can lead to off‐site ecological benefits.     

Unexpected structural chromosome rearrangements in prenatal diagnosis

Among 5315 prenatal diagnoses performed for various indications (maternal age, neural tube defect, metabolic diseases, X-linked diseases, pathologic pregnancies) 29 unexpected structural chromosome rearrangements were found in fetal cells. Fourteen were de novo chromosome rearrangements, six unbalanced, and eight balanced. Fifteen were inherited and balanced rearrangements. This high frequency of structural anomalies is discussed.     

Extinction risk of the endemic vascular flora of Kauai,Hawaii, based on IUCN assessments

The International Union for Conservation of Nature's Red List of Threatened Species (IUCN Red List) is the world's most comprehensive information source on the global conservation status of species. Governmental agencies and conservation organizations increasingly rely on IUCN Red List assessments to develop conservation policies and priorities. Funding agencies use the assessments as evaluation criteria, and researchers use meta-analysis of red-list data to address fundamental and applied conservation science questions. However, the circa 143,000 IUCN assessments represent a fraction of the world's biodiversity and are biased in regional and organismal coverage. These biases may affect conservation priorities, funding, and uses of these data to understand global patterns. Isolated oceanic islands are characterized by high endemicity, but the unique biodiversity of many islands is experiencing high extinction rates. The archipelago of Hawaii has one of the highest levels of endemism of any floristic region; 90% of its 1367 native vascular plant taxa are classified as endemic. We used the IUCN's assessment of the complete single-island endemic (SIE) vascular plant flora of Kauai, Hawaii, to assess the proportion and drivers of decline of threatened plants in an oceanic island setting. We compared the IUCN assessments with federal, state, and other local assessments of Kauai species or taxa of conservation concern. Finally, we conducted a preliminary assessment for all 1044 native vascular plants of Hawaii based on IUCN criterion B by estimating area of occupancy, extent of occurrence, and number of locations to determine whether the pattern found for the SIE vascular flora of Kauai is comparable to the native vascular flora of the Hawaiian Islands. We compared our results with patterns observed for assessments of other floras. According to IUCN, 256 SIE vascular plant taxa are threatened with extinction and 5% are already extinct. This is the highest extinction risk reported for any flora to date. The preliminary assessment of the native vascular flora of Hawaii showed that 72% (753 taxa) is threatened. The flora of Hawaii may be one of the world's most threatened; thus, increased and novel conservation measures in the state and on other remote oceanic islands are urgently needed.     

Dynamics in the global protected-area estate since 2004

Nations of the world have committed to a number of goals and targets to address global environmental challenges. Protected areas have for centuries been a key strategy in conservation and play a major role in addressing current challenges. The most important tool used to track progress on protected-area commitments is the World Database on Protected Areas (WDPA). Periodic assessments of the world's protected-area estate show steady growth over the last 2 decades. However, the current method, which uses the latest version of the WDPA, does not show the true dynamic nature of protected areas over time and does not provide information on sites removed from the WDPA. In reality, this method can only show growth or remain stable. We used GIS tools in an approach to assess protected-area change over time based on 12 temporally distinct versions of the WDPA that quantify area added and removed from the WDPA annually from 2004 to 2016. Both the narrative of continual growth of protected area and the counter-narrative of protected area removal were overly simplistic. The former because growth was almost entirely in the marine realm and the latter because some areas removed were reprotected in later years. On average 2.5 million km² was added to the WDPA annually and 1.1 million km² was removed. Reasons for the inclusion and removal of protected areas in the WDPA database were in part due to data-quality issues but also to on-the-ground changes. To meet the 17% protected-area component of Aichi Biodiversity Target 11 by 2020, which stood at 14.7% in 2016, either the rate of protected-area removal must decrease or the rate of protected-area designation and addition to the WDPA must increase.     

Combined use of eDNA metabarcoding and video surveillance for the assessment of fish biodiversity

Monitoring communities of fish is important for the management and sustainability of fisheries and marine ecosystems. Baited remote underwater video systems (BRUVs) are among the most effective nondestructive techniques for sampling bony fishes and elasmobranchs (sharks, rays, and skates). However, BRUVs sample visually conspicuous biota; hence, some taxa are undersampled or not recorded at all. We compared the diversity of fishes characterized using BRUVs with diversity detected via environmental DNA (eDNA) metabarcoding. We sampled seawater and captured BRUVs imagery at 48 locales that included reef and seagrass beds inside and outside a marine reserve (Jurien Bay in Western Australia). Eighty-two fish genera from 13 orders were detected, and the community of fishes described using eDNA and BRUVs combined yielded >30% more generic richness than when either method was used alone. Rather than detecting a homogenous genetic signature, the eDNA assemblages mirrored the BRUVs’ spatial explicitness; differentiation of taxa between seagrass and reef was clear despite the relatively small geographical scale of the study site (∼35 km²). Taxa that were not sampled by one approach, due to limitations and biases intrinsic to the method, were often detected with the other. Therefore, using BRUVs and eDNA in concert provides a more holistic view of vertebrate marine communities across habitats. Both methods are noninvasive, which enhances their potential for widespread implementation in the surveillance of marine ecosystems.     

Quantifying biases in marine-protected-area placement relative to abatable threats

Marine protected areas (MPAs) are a critical defense against biodiversity loss in the world's oceans, but to realize near-term conservation benefits, they must be established where major threats to biodiversity occur and can be mitigated. We quantified the degree to which MPA establishment has targeted stoppable threats (i.e., threats that can be abated through effectively managed MPAs alone) by combining spatially explicit marine biodiversity threat data in 2008 and 2013 and information on the location and potential of MPAs to halt threats. We calculated an impact metric to determine whether countries are protecting proportionally more high- or low-threat ecoregions and compared observed values with random protected-area allocation. We found that protection covered <2% of ecoregions in national waters with high levels of abatable threat in 2013, which is ∼59% less protection in high-threat areas than if MPAs had been placed randomly. Relatively low-threat ecoregions had 6.3 times more strict protection (International Union for Conservation of Nature categories I–II) than high-threat ecoregions. Thirty-one ecoregions had high levels of stoppable threat but very low protection, which presents opportunities for MPAs to yield more significant near-term conservation benefits. The extent of the global MPA estate has increased, but the establishment of MPAs where they can reduce threats that are driving biodiversity loss is now urgently needed.     

Detecting deterrence from patrol data

The threat posed to protected areas by the illegal killing of wildlife is countered principally by ranger patrols that aim to detect and deter potential offenders. Deterring poaching is a fundamental conservation objective, but its achievement is difficult to identify, especially when the prime source of information comes in the form of the patrols’ own records, which inevitably contain biases. The most common metric of deterrence is a plot of illegal activities detected per unit of patrol effort (CPUE) against patrol effort (CPUE-E). We devised a simple, mechanistic model of law breaking and law enforcement in which we simulated deterrence alongside exogenous changes in the frequency of offences under different temporal patterns of enforcement effort. The CPUE-E plots were not reliable indicators of deterrence. However, plots of change in CPUE over change in effort (ΔCPUE-ΔE) reliably identified deterrence, regardless of the temporal distribution of effort or any exogenous change in illegal activity levels as long as the time lag between patrol effort and subsequent behavioral change among offenders was approximately known. The ΔCPUE-ΔE plots offered a robust, simple metric for monitoring patrol effectiveness; were no more conceptually complicated than the basic CPUE-E plots; and required no specialist knowledge or software to produce. Our findings demonstrate the need to account for temporal autocorrelation in patrol data and to consider appropriate (and poaching-activity-specific) intervals for aggregation. They also reveal important gaps in understanding of deterrence in this context, especially the mechanisms by which it occurs. In practical applications, we recommend the use of ΔCPUE-ΔE plots in preference to other basic metrics and advise that deterrence should be suspected only if there is a clear negative slope. Distinct types of illegal activity should not be grouped together for analysis, especially if the signs of their occurrence have different persistence times in the environment.     

Spatial cost–benefit analysis of blue restoration and factors driving net benefits globally

Marine coastal ecosystems, commonly referred to as blue ecosystems, provide valuable services to society but are under increasing threat worldwide due to a variety of drivers, including eutrophication, development, land-use change, land reclamation, and climate change. Ecological restoration is sometimes necessary to facilitate recovery in coastal ecosystems. Blue restoration (i.e., in marine coastal systems) is a developing field, and projects to date have been small scale and expensive, leading to the perception that restoration may not be economically viable. We conducted a global cost–benefit analysis to determine the net benefits of restoring coral reef, mangrove, saltmarsh, and seagrass ecosystems, where the benefit is defined as the monetary value of ecosystem services. We estimated costs from published restoration case studies and used an adjusted-value-transfer method to assign benefit values to these case studies. Benefit values were estimated as the monetary value provided by ecosystem services of the restored habitats. Benefits outweighed costs (i.e., there were positive net benefits) for restoration of all blue ecosystems. Mean benefit:cost ratios for ecosystem restoration were eight to 10 times higher than prior studies of coral reef and seagrass restoration, most likely due to the more recent lower cost estimates we used. Among ecosystems, saltmarsh had the greatest net benefits followed by mangrove; coral reef and seagrass ecosystems had lower net benefits. In general, restoration in nations with middle incomes had higher (eight times higher in coral reefs and 40 times higher in mangroves) net benefits than those with high incomes. Within an ecosystem type, net benefit varied with restoration technique (coral reef and saltmarsh), ecosystem service produced (mangrove and saltmarsh), and project duration (seagrass). These results challenge the perceptions of the low economic viability of blue restoration and should encourage further targeted investment in this field.