Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)

Background CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a hereditary autosomal dominant non-atherosclerotic non-amyloid cerebral arteriopathy. It is a relatively novel disease, identified in 1993. To our knowledge its occurrence in South Africa has not been reported in the literature. Here we present the clinical and laboratory features of five patients with CADASIL. Methods Patients with the characteristic radiological white matter disease and typical features (family history, ischaemic events, migraine or dementia) were evaluated for possible CADASIL. The evaluation included a clinical examination, routine investigations for strokes, MRI, skin biopsy electron microscopy, evoked potentials and EEG. Results The clinical and laboratory features of our study correlate to a large extent with previously reported studies. However, all of the skin biopsies were positive, and the onset of migraine in our patients was considerably earlier. A new finding, to our knowledge, is the normality of visual, somatosensory and auditory evoked potentials. Conclusion This study clearly confirms the existence of CADASIL in South Africa. It also suggests that skin electron microscopy is useful, despite recent reports of its low sensitivity, and that evoked potentials in CADASIL are likely to be normal

Extratropical transition of tropical cyclones in a multiresolution ensemble of atmosphere-only and fully coupled global Climate Models

Tropical cyclones undergo extratropical transition (ET) in every ocean basin. Projected changes in ET frequency under climate change are uncertain and differ between basins, so multimodel studies are required to establish confidence. We used a feature-tracking algorithm to identify tropical cyclones and performed cyclone phase-space analysis to identify ET in an ensemble of atmosphere-only and fully coupled global model simulations, run at various resolutions under historical (1950–2014) and future (2015–50) forcing. Historical simulations were evaluated against five reanalyses for 1979–2018. Considering ET globally, ensemble-mean biases in track and genesis densities are reduced in the North Atlantic and western North Pacific when horizontal resolution is increased from ∼100 to ∼25 km. At high resolution, multi-reanalysis-mean climatological ET frequencies across most ocean basins as well as basins’ seasonal cycles are reproduced better than in low-resolution models. Skill in simulating historical ET interannual variability in the North Atlantic and western North Pacific is ∼0.3, which is lower than for all tropical cyclones. Models project an increase in ET frequency in the North Atlantic and a decrease in the western North Pacific. We explain these opposing responses by secular change in ET seasonality and an increase in lower-tropospheric, pre-ET warm-core strength, both of which are largely unique to the North Atlantic. Multimodel consensus about climate change responses is clearer for frequency metrics than for intensity metrics. These results help clarify the role of model resolution in simulating ET and help quantify uncertainty surrounding ET in a warming climate.All authors received financial support from the PRIMAVERA project (European Commission Horizon2020 Grant Agreement 641727) with data access via JASMIN (https://jasmin.ac.uk) supported by IS-ENES3 (Grant Agreement 824084). AJB also received support from National Environmental Research Council (NERC) national capability grant for the North Atlantic Climate System: Integrated study (ACSIS) program (Grants NE/N018001/1, NE/N018044/1, NE/N018028/1, and NE/N018052/1). KL received funding from the German Federal Ministry of Education and Research (BMBF) through JPI Climate/JPI Oceans NextG-Climate Science-ROADMAP (FKZ: 01LP2002A). The authors are grateful to the editor and to three anonymous reviewers, whose recommendations improved this paper. AJB, PLV, RJH, and MJR conceived the study. Simulations were performed by MJR, ET, KL, CDR, and LT. Output data were managed by JS. MJR performed the cyclone tracking. BV computed the Eady growth rate. AJB undertook cyclone phase-space analysis and all other data analyses, figure preparation, and wrote the manuscript. All authors provided input in interpreting results and approved the final manuscript. The authors declare no competing interests.Peer Reviewed"Article signat per 13 autors/es: Alexander J. Baker, Malcolm J. Roberts, Pier Luigi Vidale, Kevin I. Hodges, Jon Seddon, Benoît Vannière, Rein J. Haarsma, Reinhard Schiemann, Dimitris Kapetanakis, Etienne Tourigny, Katja Lohmann, Christopher D. Roberts, and Laurent Terray"Postprint (published version

Transient clinical improvement of a mitochondrial neurogastrointestinal encephalomyopathy-like syndrome after allogeneic haematopoietic stem cell transplantation

Mitochondrial neurogastrointestinal encephalopathy (MNGIE), usually an autosomal-recessive inherited condition, causes gastrointestinal dysmotility, ophthalmoplegia, ptosis, leukoencephalopathy and neuropathy. The chromosome 22 disorder, due to mutations in the nuclear gene TYMP encoding thymidine phosphorylase (TP), leads to the accumulation of thymidine and deoxyuridine, with mitochondrial dysfunction. This report describes a patient with an MNGIE-like syndrome with a heterozygous TYMP mutation who showed marked, but transient improvement postallogeneic haematopoietic stem cell transplantation (HSCT). The patient, showing ptosis and ophthalmoplegia, was initially managed for myasthenia gravis. She developed gastrointestinal symptoms, dysarthria, dysphagia and weakness, and MNGIE was considered due to its low TP levels and improvement after platelet transfusions. She underwent HSCT, with dramatic improvement, but regressed 18 months later despite normal TP levels, platelet counts and full chimerism. MNGIE may encompass a spectrum of disorders. TP deficiency alone is unlikely to explain all clinical signs, and other factors, including the possible development of anti-TP antibodies, which may play a role in the pathophysiology.http://casereports.bmj.comhj2017GeneticsNeurolog

Fiat lux : light and pedagogy for the 21st century

BACKGROUND : The relationship between the quality of the learning environment and student outcomes is receiving more serious attention from educational psychologists, neurologists, ophthalmologists, orthopedists, surgeons, oncologists, architects, ergonomists, nutritionists, and Michelin star chefs. There is a role for ergonomic office and school design to positively impact worker and student productivity, and one design attribute drawing attention is the indoor lit environment. In this review, we expand upon the role that light plays in education, as it has enabled millions of pupils to read at late hours, which were previously too dark. However, still unappreciated is the biological effects of artificial light on circadian rhythm and its subsequent impacts on health and learning outcomes. SUMMARY : This review describes the current state of light in the educational environment, its impact, and the effect of certain inexpensive and easy-to-implement adaptations to better support student growth, learning and development. We find that the current lighting environment for pupils is sub-optima based on biological mechanism and may be improved through cost effective interventions. These interventions can achieve greater biological harmonization and improve learner outcomes. KEY MESSASGE : This review describes the current state of light in the educational environment, its impact, and the effect of certain inexpensive and easy-to-implement adaptations to better support student growth, learning and development. We find that the current lighting environment for pupils is sub-optima based on biological mechanism and may be improved through cost effective interventions. These interventions can achieve greater biological harmonization and improve learner outcomes.US NIH grants and the National Research Foundation of South Africa.https://journals.sagepub.com/home/aonNeurolog

Flea-borne Bartonella grahamii and Bartonella taylorii in Bank Voles

Bartonella species are increasingly associated with a range of human and animal diseases. Despite this, we have a poor understanding of the ecology and epidemiology of many species, especially those circulating in wild populations. Previous studies have demonstrated that a diverse range of Bartonella species are abundant in wild rodent populations; little is known regarding their modes of transmission, although both direct and indirect routes have been suggested. In this study, with bank voles (Clethrionomys glareolus) as the host species, we demonstrate that the rodent flea Ctenophthalmus nobilis is a competent vector of at least two Bartonella species, B. grahamii, which has previously been associated with human infection, and B. taylorii. In contrast, no evidence of either horizontal or vertical transmission was seen in bank voles inoculated with B. taylorii maintained in an arthropod-free environment; this finding suggests that fleas may be essential for transmitting some Bartonella species

Unique properties of a subset of human pluripotent stem cells with high capacity for self-renewal.

Archetypal human pluripotent stem cells (hPSC) are widely considered to be equivalent in developmental status to mouse epiblast stem cells, which correspond to pluripotent cells at a late post-implantation stage of embryogenesis. Heterogeneity within hPSC cultures complicates this interspecies comparison. Here we show that a subpopulation of archetypal hPSC enriched for high self-renewal capacity (ESR) has distinct properties relative to the bulk of the population, including a cell cycle with a very low G1 fraction and a metabolomic profile that reflects a combination of oxidative phosphorylation and glycolysis. ESR cells are pluripotent and capable of differentiation into primordial germ cell-like cells. Global DNA methylation levels in the ESR subpopulation are lower than those in mouse epiblast stem cells. Chromatin accessibility analysis revealed a unique set of open chromatin sites in ESR cells. RNA-seq at the subpopulation and single cell levels shows that, unlike mouse epiblast stem cells, the ESR subset of hPSC displays no lineage priming, and that it can be clearly distinguished from gastrulating and extraembryonic cell populations in the primate embryo. ESR hPSC correspond to an earlier stage of post-implantation development than mouse epiblast stem cells

The Lantern, 2017-2018

On Dissociation • Untouchable • After Rocket Man • The Science Fair • Cardinal Rule at Stephen J. Memorial • Quentin & Sylvie • Cabello • The Get Out • Painting Day • Black, White and Grey • Family Pruning • How to Remove a Stain • Becoming Ourselves • Wonderbread U • Overture • Pescadero • Gross • Stage Fright • Lucky Daddy • Sarah • Rumble • Silvermine • The Green Iguana • A Poem for Ghost Children • A Poem for Lost Boys • Mother • Drop of Grease • Don\u27t Wanna be White • I • Amelia Earhart Disappeared Into My Vagina: An Ode to Cunts, Menstrual Cups and All Things Woman • Suburban Summer • Nightmares and Dreams Induced by My Mother • Teacups, Skins, etc. • Three Thoughts About My Bedroom • Dear Siri • 2 Queens (Beyonce in Reference to Sonia Sanchez) • Voyeurs • In Front of the Bathroom Mirror • To a Rose • Howl • Mice • Mirror • Language Accordion Volcano Mouth • Lucky Woman • Butterscotch • To Persephone • Wolf • Notes Never Passed • Topple • Bust • Kyoto • Identity • Sunflower • Tornabuoni Bubbles • Olympia • Decayed Hall • Perspectivehttps://digitalcommons.ursinus.edu/lantern/1186/thumbnail.jp

Effects of antiplatelet therapy on stroke risk by brain imaging features of intracerebral haemorrhage and cerebral small vessel diseases: subgroup analyses of the RESTART randomised, open-label trial

Background Findings from the RESTART trial suggest that starting antiplatelet therapy might reduce the risk of recurrent symptomatic intracerebral haemorrhage compared with avoiding antiplatelet therapy. Brain imaging features of intracerebral haemorrhage and cerebral small vessel diseases (such as cerebral microbleeds) are associated with greater risks of recurrent intracerebral haemorrhage. We did subgroup analyses of the RESTART trial to explore whether these brain imaging features modify the effects of antiplatelet therapy

A national-scale assessment of climate change impacts on species: assessing the balance of risks and opportunities for multiple taxa

It is important for conservationists to be able to assess the risks that climate change poses to species, in order to inform decision making. Using standardised and repeatable methods, we present a national-scale assessment of the risks of range loss and opportunities for range expansion, that climate change could pose for over 3,000 plants and animals that occur in England. A basic risk assessment that compared projected future changes in potential range with recently observed changes classified 21% of species as being at high risk and 6% at medium risk of range loss under a B1 climate change scenario. A greater number of species were classified as having a medium (16%) or high (38%) opportunity to potentially expand their distribution. A more comprehensive assessment, incorporating additional ecological information, including potentially confounding and exacerbating factors, was applied to 402 species, of which 35 % were at risk of range loss and 42 % may expand their range extent. This study covers a temperate region with a significant proportion of species at their poleward range limit. The balance of risks and opportunities from climate change may be different elsewhere. The outcome of both risk assessments varied between taxonomic groups, with bryophytes and vascular plants containing the greatest proportion of species at risk from climate change. Upland habitats contained more species at risk than other habitats. Whilst the overall pattern was clear, confidence was generally low for individual assessments, with the exception of well-studied taxa such as birds. In response to climate change, nature conservation needs to plan for changing species distributions and increasing uncertainty of the future

Southeastern Association of Law Libraries Annual Meeting

The 2009 SEAALL Annual Meeting was held in Athens Georgia, April 16-18, 2009