Prenatal diagnosis of cystic fibrosis by methylumbelliferylguanidinobenzoate protease titration in amniotic fluid

Amniotic fluids were obtained from 19 mothers who had previously given birth to a child with cystic fibrosis. Measurement of methylumbelliferyl guanidinobenzoate (MUGB) reactive proteases suggested that all 19 would have unaffected babies. Amongst the first 10 cases to come to term there were 5 infants with cystic fibrosis. It is concluded that MUGB protease titration is not suitable for the early prenatal diagnosis of cystic fibrosis.     

Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus–Merzbacher disease

A submicroscopic genomic duplication in Xq22.2 that contains the entire proteolipid protein 1 gene (PLP1) is responsible for the majority of Pelizaeus–Merzbacher disease (PMD) patients. We previously developed an interphase FISH assay to screen for PLP1 duplications in PMD patients using peripheral blood and lymphoblastoid cell lines. This assay has been utilized as a clinical diagnostic test in our cytogenetics laboratory. To expand usage of the interphase FISH assay to prenatal diagnosis of PLP1 duplications, we examined three PMD families with PLP1 duplications utilizing aminiotic fluid samples. In two families the FISH assay revealed fetuses with PLP1 duplications, whereas the other fetus showed a normal copy number of PLP1. Haplotype analyses, as well as an additional FISH analysis using postnatal blood samples, confirmed the results of the prenatal analyses. Our study demonstrates utility of the interphase FISH assay in the prenatal diagnosis of PLP1 duplications in PMD. Copyright © 2001 John Wiley & Sons, Ltd.     

Design conditions for learning in community service contexts

In this study, we investigated team‐based community service projects as action learning initiatives designed to facilitate two learning outcomes: community learning (knowledge of social, cultural, or economic issues) and personal learning (self‐awareness of managerial attitudes and abilities). We developed hypotheses to predict critical input conditions for action learning that promote community and personal learning. We tested these hypotheses with data collected from 381 MBA students and their team leaders who participated in a variety of community service projects. Results demonstrated that design conditions (task characteristics, social interactions, and affective responses) influenced community and personal learning differently. We supplemented survey results with interview and observational data from a subset of participants and conclude with a discussion of the theoretical implications for action learning and practical recommendations for designing community service programs. Copyright © 2001 John Wiley & Sons, Ltd.     

Blood markers among residents from a coal mining area

Environmental Science and Pollution Research - Coal extraction and processing generate environmental contamination, which has several negative impacts on human health. Hematological and biochemical...     

COVID-19: From health crises to food security anxiety and policy implications

Like the rest of the world, African countries are reeling from the health, economic and social effects of COVID-19. The continent’s governments have responded by imposing rigorous lockdowns to limit the spread of the virus. The various lockdown measures are undermining food security, because stay at home orders have among others, threatened food production for a continent that relies heavily on agriculture as the bedrock of the economy. This article draws on quantitative data collected by the GeoPoll, and, from these data, assesses the effect of concern about the local spread and economic impact of COVID-19 on food worries. Qualitative data comprising 12 countries south of the Sahara reveal that lockdowns have created anxiety over food security as a health, economic and human rights/well-being issue. By applying a probit model, we find that concern about the local spread of COVID-19 and economic impact of the virus increases the probability of food worries. Governments have responded with various efforts to support the neediest. By evaluating the various policies rolled out we advocate for a feminist economics approach that necessitates greater use of data analytics to predict the likely impacts of intended regulatory relief responses during the recovery process and post-COVID-19.     

Prenatal diagnosis of SMPD4 loss - A neurodevelopmental disorder with microcephaly,arthrogryposis and structural brain anomalies

SMPD4 loss is a rare neurodevelopmental disorder that leads to severe mental and physical disability and early death in infancy. Most cases of this genetic condition have been diagnosed postnatally. This article focuses on the prenatal findings of affected fetuses. The phenotypes can include growth restriction, arthrogryposis (clenched hands, foot deformity), as well as cerebral abnormalities (simplified gyral pattern/lissencephaly, cerebellar hypoplasia, corpus callosum deformity). SMPD4 loss is detectable via exome sequencing. Here, two fetuses displayed a homozygotic pathogen variant in the SMPD4 gene, encoding for the enzyme Sphingomyelinase-4. Both parents were heterozygous carriers of the pathogenic variant. On detection of the above mentioned signs exome sequencing is indicated, with focus on the SMPD4 gene.     

Plant invasions, generalist herbivores, and novel defense weapons

One commonly accepted mechanism for biological invasions is that species, after introduction to a new region, leave behind their natural enemies and therefore increase in distribution and abundance. However, which enemies are escaped remains unclear. Escape from specialist invertebrate herbivores has been examined in detail, but despite the profound effects of generalist herbivores in natural communities their potential to control invasive species is poorly understood. We carried out parallel laboratory feeding bioassays with generalist invertebrate herbivores from the native (Europe) and from the introduced (North America) range using native and nonnative tetraploid populations of the invasive spotted knapweed, Centaurea stoebe. We found that the growth of North American generalist herbivores was far lower when feeding on C. stoebe than the growth of European generalists. In contrast, North American and European generalists grew equally well on European and North American tetraploid C. stoebe plants, lending no support for an evolutionary change in resistance of North American tetraploid C. stoebe populations against generalist herbivores. These results suggest that biogeographical differences in the response of generalist herbivores to novel plant species have the potential to affect plant invasions.     

Preservation methods alter stable isotope values in gelatinous zooplankton: implications for interpreting trophic ecology

Jellyfish are increasingly topical within studies of marine food webs. Stable isotope analysis represents a valuable technique to unravel the complex trophic role of these long-overlooked species. In other taxa, sample preservation has been shown to alter the isotopic values of species under consideration, potentially leading to misinterpretation of trophic ecology. To identify potential preservation effects in jellyfish, we collected Aurelia aurita from Strangford Lough (54^o22′44.73″N, 5^o32′53.44″W) during May 2009 and processed them using three different methods prior to isotopic analysis (unpreserved, frozen and preserved in ethanol). A distinct preservation effect was found on δ¹⁵N values: furthermore, preservation also influenced the positive allometric relationship between individual size and δ¹⁵N values. Conversely, δ¹³C values remained consistent between the three preservation methods, conflicting with previous findings for other invertebrate, fish and mammalian species. These findings have implications for incorporation of jellyfish into marine food webs and remote sampling regimes where preservation of samples is unavoidable.