Investigation into the genetics of fetal congenital lymphatic anomalies

Objective

Congenital lymphatic anomalies (LAs) arise due to defects in lymphatic development and often present in utero as pleural effusion, chylothorax, nuchal and soft tissue edema, ascites, or hydrops. Many LAs are caused by single nucleotide variants, which are not detected on routine prenatal testing.

Methods

Demographic data were compared between two subcohorts, those with clinically significant fetal edema (CSFE) and isolated fetal edema. A targeted variant analysis of LA genes was performed using American College of Medical Genetics criteria on whole exome sequencing (WES) data generated for 71 fetal edema cases who remained undiagnosed after standard workup.

Results

CSFE cases had poor outcomes, including preterm delivery, demise, and maternal preeclampsia. Pathogenic and likely pathogenic variants were identified in 7% (5/71) of cases, including variants in RASopathy genes, RASA1, SOS1, PTPN11, and a novel PIEZO1 variant. Variants of uncertain significance (VOUS) were identified in 45% (32/71) of cases. In CSFEs, VOUS were found in CELSR1, EPHB4, TIE1, PIEZO1, ITGA9, RASopathy genes, SOS1, SOS2, and RAF1.

Conclusions

WES identified pathogenic and likely pathogenic variants and VOUS in LA genes in 51% of fetal edema cases, supporting WES and expanded hydrops panels in cases of idiopathic fetal hydrops and fluid collections.     

Computed tomographic reconstruction of a fetus with the dysgnathia complex (agnathia-otocephaly)

The dysgnathia complex (agnathia-otocephaly) (AO) is a lethal malformation that consists of congenital absence of the lower jaw with union or close approximation of the lower ears on the front of the neck, microstomia, and hypoglossia. We present a novel case of agnathia-otocephaly with associated organomegaly and the use of postmortem 3-D computed tomographic rendering. Copyright © 2006 John Wiley & Sons, Ltd.     

Effects of temperature,size, and food on the growth of <Emphasis Type="Italic">Membranipora membranacea</Emphasis> in laboratory and field studies

In the rocky subtidal ecosystem of the western North Atlantic outbreaks of the introduced epiphytic bryozoan Membranipora membranacea cause defoliation of kelp beds and facilitate the introduction of other non-native benthic species. We quantified size- and temperature-dependent growth rates of M. membranacea colonies in the field and the laboratory for durations of 8–23 days. Also, we examined the interaction between food abundance and temperature on growth rates of newly settled colonies in the laboratory. Growth rates were positively related to temperature and increased exponentially with size of colonies over the ranges examined (5.7–16.2°C and 0.5–192 mm, respectively), and were significantly higher in the field than in the laboratory. There was an interactive effect between food and temperature on the size and growth rates of colonies, with the most pronounced effects of food limitation on colonies grown at the warmest temperatures, and no effect of food on colonies grown at the coldest temperatures. Quantifying the growth rates of introduced species is essential to understanding their population dynamics, particularly when outbreaks can have severe impacts on the native community.     

SARS-CoV2 (COVID-19) infection: is fetal surgery in times of national disasters reasonable?

Even though the global COVID-19 pandemic may affect how medical care is delivered in general, most countries try to maintain steady access for women to routine pregnancy care, including fetal anomaly screening. This means that, also during this pandemic, fetal anomalies will be detected, and that discussions regarding invasive genetic testing and possibly fetal therapy will need to take place. For patients, concerns about Severe Acute Respiratory Syndrome-Corona Virus 2 will add to the anxiety caused by the diagnosis of a serious fetal anomaly. Yet, also for fetal medicine teams the situation gets more complex as they must weigh up the risks and benefits to the fetus as well as the mother, while managing a changing evidence base and logistic challenges in their healthcare system.     

Population structure of two deep-sea hydrothermal vent gastropods from the Juan de Fuca Ridge, NE Pacific

The gastropods Lepetodrilus fucensis and Depressigyra globulus are abundant faunal components of animal communities at deep-sea hydrothermal vents along the Juan de Fuca Ridge in the NE Pacific. The population structure and recruitment pattern of both species were studied using modal decomposition of length–frequency distributions. Gastropod populations were collected from Axial Volcano and Endeavour Segment in 2002 and 2003. Polymodal size–frequency distributions, particularly at Axial Volcano vent sites, suggest a discontinuous recruitment pattern for D. globulus. In contrast, there were no distinct peaks visible in the distributions of L. fucensis, suggesting a continuous recruitment pattern for this species. For both species, distributions were positively skewed towards the smaller length–classes, implying post-settlement mortality is high. However, variations in growth, due to short- and long-term variability in environmental conditions in the hydrothermal vent habitat, as well as biological interactions, may also be influencing the distribution and abundance of subsequent life-history stages. Using maximum shell lengths from populations of known ages, the growth rate of L. fucensis was estimated as 9.6 μm day⁻¹, indicating adulthood would be reached in ∼1 year. Our results suggest that, despite occupying the same habitat, abundance and population structure are regulated by different biotic and abiotic processes in L. fucensis and D. globulus.     

Photosynthetic resource-use efficiency and demographic variability in desert winter annual plants

We studied a guild of desert winter annual plants that differ in long-term variation in per capita reproductive success (lb, the product of per capita survival from germination to reproduction, l, times per capita reproduction of survivors, b) to relate individual function to population and community dynamics. We hypothesized that variation in lb should be related to species' positions along a trade-off between relative growth rate (RGR) and photosynthetic water-use efficiency (WUE) because lb is a species-specific function of growing-season precipitation. We found that demographically variable species have greater RGR and greater leaf carbon isotope discrimination (Delta, a proxy inversely related to WUE). We examined leaf nitrogen and photosynthetic characteristics and found that, in this system, variation in Delta is a function of photosynthetic demand rather than stomatal regulation of water loss. The physiological characteristics that result in low Delta in some species may confer greater photosynthetic performance during the reliably moist but low temperature periods that immediately follow winter rainfall in the Sonoran Desert or alternatively during cool periods of the day or early growing season. Conversely, while species with high Delta and high RGR exhibit low leaf N, they have high biomass allocation to canopy leaf area display. Such trait associations may allow for greater performance during the infrequent conditions where high soil moisture persists into warmer conditions, resulting in high demographic variance. Alternatively, high variance could arise from specialization to warm periods of the day or season. Population dynamic buffering via stress tolerance (low RGR and Delta) correlates negatively with buffering via seed banks, as predicted by bet-hedging theory. By merging analyses of population dynamics with functional trait relationships, we develop a deeper understanding of the physiological, ecological, and evolutionary mechanisms involved in population and community dynamics.     

Global-scale environmental transport of persistent organic pollutants

In order to realistically simulate both chemistry and transport of atmospheric organic pollutants, it is indispensable that the applied models explicitly include coupling between different components of the global environment such as atmosphere, hydrosphere, cryosphere and soil system. A model with such properties is presented.

The atmospheric part of the model is based on the equations in a general contravariant form which permits easy changes of the coordinate system by redefining the metric tensor of a specifically employed coordinate system. Considering a need to include explicitly the terrain effects, the terrain following spherical coordinate system is chosen from among many possible coordinate systems. This particular system is a combination of the Gal-Chen coordinates, commonly employed in mesoscale meteorological models, and the spherical coordinates, typical for global atmospheric models.

In addition to atmospheric transport, the model also simulates the exchange between air and different types of underlying surfaces such as water, soil, snow, and ice. This approach permits a realistic representation of absorption and delayed re-emission of pollutants from the surface to the atmosphere and, consequently, allows to capture hysteresis-like effects of the exchange between the atmosphere and the other components of the system. In this model, the most comprehensive numerical representation of the exchange is that for soil. In particular, the model includes a realistic soil module which simulates both diffusion and convection of a tracer driven by evaporation from the soil, precipitation, and gravity.

The model is applied to a long-term simulation of the transport of pesticides (hexachlorocyclohexanes in particular). Emission fluxes from the soil are rigorously computed on the basis of the realistic data of the agricultural application. All four modelled systems, i.e. atmosphere, soil, hydrosphere and cryosphere, are driven by objectively analysed meteorological data supplemented, when necessary, by climatological information. Therefore, the verification against the observed data is possible. The comparison of the model results and the observations taken at remote stations in the Arctic indicates that the presented global modelling system is able to capture both trends and short-term components in the observed time series of the concentrations, and therefore, provides a useful tool for the evaluation of the source–receptor relationships.