Rapid Prenatal Diagnosis and Exclusion of Epidermolysis Bullosa Using Novel Antibody Probes

Prenatal diagnosis of recessive dystrophic epidermolysis bullosa was successfully achieved at 19 weeks' gestation by indirect immunofluorescence examination of a fetal skin biopsy sample using the monoclonal antibody LH 7:2. The abortus displayed marked blistering and the diagnosis was confirmed by transmission electron microscopy (TEM). In 3 further pregnancies at risk for lethal junctional epidermolysis bullosa the diagnosis was excluded using the polyclonal antibody AA3. In all these studies the results were available within 4h of receiving the samples. These new techniques offer a quick and simple alternative to TEM for midtrimester prenatal diagnosis of 2 severe recessive forms of epidermolysis bullosa

Beyond the conference: Singing our SSONG

The International Society for the Scholarship of Teaching and Learning (ISSOTL) annual conference presents an exciting opportunity to meet with international colleagues from diverse backgrounds and situations to commune on our common interest in the Scholarship of Teaching and Learning (SoTL). As with every ISSOTL conference, the enthusiasm for SoTL was palpable in Los Angeles in 2016. Rich discussions took place, networks were formed, and promises to keep in touch were made. Unfortunately, previous conference experiences have taught us that these good intentions often fall short once the conference bubble has burst and the reality of daily life sets in once more. In an attempt to circumvent this phenomenon, we—seven colleagues from three different countries—embarked on a research project that enabled us to maintain the relationships and fruitful discussions we had initiated at ISSOTL16. We established Small, Significant Online Network Group, or SSONG, inspired by a conference workshop on small significant networks. As a group, we met regularly online using Adobe Connect© and engaged in significant conversations around SoTL that were private, trustful, and intellectually intriguing. This article reflects our experiences in establishing and maintaining the group. We discuss how the group was formed; its alignment with the concept of small, significant networks; and the benefits and challenges we encountered. Four key principles of the group that have emerged will also be discussed in detail, enabling readers to consider how they could adapt the concept for their own purposes

Negative phenotypic and genetic associations between copulation duration and longevity in male seed beetles

Reproduction can be costly and is predicted to trade-off against other characters. However, while these trade-offs are well documented for females, there has been less focus on aspects of male reproduction. Furthermore, those studies that have looked at males typically only investigate phenotypic associations, with the underlying genetics often ignored. Here, we report on phenotypic and genetic trade-offs in male reproductive effort in the seed beetle, Callosobruchus maculatus. We find that the duration of a male's first copulation is negatively associated with subsequent male survival, phenotypically and genetically. Our results are consistent with life-history theory and suggest that like females, males trade-off reproductive effort against longevity

On the feasibility of N2 fixation via a single-site FeI/FeIV cycle: Spectroscopic studies of FeI(N2)FeI, FeIV=N, and related species

The electronic properties of an unusually redox-rich iron system, [PhBPR 3]FeNx (where [PhBPR 3] is [PhB(CH2PR2)3]−), are explored by Mössbauer, EPR, magnetization, and density-functional methods to gain a detailed picture regarding their oxidation states and electronic structures. The complexes of primary interest in this article are the two terminal iron(IV) nitride species, [PhBPiPr 3]FeN (3a) and [PhBPCH2Cy 3]FeN (3b), and the formally diiron(I) bridged-Fe(μ-N2)Fe species, {[PhBPiPr 3]Fe}2(μ-N2) (4). Complex 4 is chemically related to 3a via a spontaneous nitride coupling reaction. The diamagnetic iron(IV) nitrides 3a and 3b exhibit unique electronic environments that are reflected in their unusual Mössbauer parameters, including quadrupole-splitting values of 6.01(1) mm/s and isomer shift values of −0.34(1) mm/s. The data for 4 suggest that this complex can be described by a weak ferromagnetic interaction (J/D < 1) between two iron(I) centers. For comparison, four other relevant complexes also are characterized: a diamagnetic iron(IV) trihydride [PhBPiPr 3]Fe(H)3(PMe3) (5), an S = 3/2 iron(I) phosphine adduct [PhBPiPr 3]FePMe3 (6), and the S = 2 iron(II) precursors to 3a, [PhBPiPr 3]FeCl and [PhBPiPr 3]Fe-2,3:5,6-dibenzo-7-aza bicyclo[2.2.1]hepta-2,5-diene (dbabh). The electronic properties of these respective complexes also have been explored by density-functional methods to help corroborate our spectral assignments and to probe their electronic structures further

Recent Developments in Understanding Two-dimensional Turbulence and the Nastrom-Gage Spectrum

Two-dimensional turbulence appears to be a more formidable problem than three-dimensional turbulence despite the numerical advantage of working with one less dimension. In the present paper we review recent numerical investigations of the phenomenology of two-dimensional turbulence as well as recent theoretical breakthroughs by various leading researchers. We also review efforts to reconcile the observed energy spectrum of the atmosphere (the spectrum) with the predictions of two-dimensional turbulence and quasi-geostrophic turbulence.Comment: Invited review; accepted by J. Low Temp. Phys.; Proceedings for Warwick Turbulence Symposium Workshop on Universal features in turbulence: from quantum to cosmological scales, 200

Impact of cholinesterase inhibitors or memantine on survival in adults with Down syndrome and dementia: clinical cohort study

Background: There is little evidence to guide pharmacological treatment in adults with Down syndrome and Alzheimer's disease. / Aims: To investigate the effect of cholinesterase inhibitors or memantine on survival and function in adults with Down syndrome and Alzheimer's disease. / Method: This was a naturalistic longitudinal follow-up of a clinical cohort of 310 people with Down syndrome diagnosed with Alzheimer's disease collected from specialist community services in England. / Results: Median survival time (5.59 years, 95% CI 4.67–6.67) for those on medication (n = 145, mainly cholinesterase inhibitors) was significantly greater than for those not prescribed medication (n = 165) (3.45 years, 95% CI 2.91–4.13, log-rank test P<0.001). Sequential assessments demonstrated an early effect in maintaining cognitive function. / Conclusions: Cholinesterase inhibitors appear to offer benefit for people with Down syndrome and Alzheimer's disease that is comparable with sporadic Alzheimer's disease; a trial to test the effect of earlier treatment (prodromal Alzheimer's disease) in Down syndrome may be indicated. / Declaration of interest: A.S. has undertaken consulting for Ono Pharmaceuticals, outside the submitted work. Z.W. has received a consultancy fee and grant from GE Healthcare, outside the submitted work

A consistent global approach for morphometric characterisation of subaqueous landslides

Landslides are common in aquatic settings worldwide, from lakes and coastal environments to the deep sea. Fast-moving, large-volume landslides can potentially trigger destructive tsunamis. Landslides damage and disrupt global communication links and other critical marine infrastructure. Landslide deposits act as foci for localized, but important, deep-seafloor biological communities. Under burial, landslide deposits play an important role in a successful petroleum system. While the broad importance of understanding subaqueous landslide processes is evident, a number of important scientific questions have yet to receive the needed attention. Collecting quantitative data is a critical step to addressing questions surrounding subaqueous landslides. Quantitative metrics of subaqueous landslides are routinely recorded, but which ones, and how they are defined, depends on the end-user focus. Differences in focus can inhibit communication of knowledge between communities, and complicate comparative analysis. This study outlines an approach specifically for consistent measurement of subaqueous landslide morphometrics to be used in the design of a broader, global open-source, peer-curated database. Examples from different settings illustrate how the approach can be applied, as well as the difficulties encountered when analysing different landslides and data types. Standardizing data collection for subaqueous landslides should result in more accurate geohazard predictions and resource estimation