Subtle effects of radiation on embryo development of the 3-spined stickleback

International audienc

The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?

Neuronal ceroid lipofuscinoses (NCLs) are a group of incurable lysosomal storage disorders characterized by neurodegeneration and accumulation of lipopigments mainly within the neurons. We studied two littermate Chihuahua dogs presenting with progressive signs of blindness, ataxia, pacing, and cognitive impairment from 1 year of age. Because of worsening of clinical signs, both dogs were euthanized at about 2 years of age. Postmortem examination revealed marked accumulation of autofluorescent intracellular inclusions within the brain, characteristic of NCL. Whole-genome sequencing was performed on one of the affected dogs. After sequence alignment and variant calling against the canine reference genome, variants were identified in the coding region or splicing regions of four previously known NCL genes (CLN6, ARSG, CLN2 [=TPP1], and CLN7 [=MFSD8]). Subsequent segregation analysis within the family (two affected dogs, both parents, and three relatives) identified MFSD8:p.Phe282Leufs13*, which had previously been identified in one Chinese crested dog with no available ancestries, as the causal mutation. Because of the similarities of the clinical signs and histopathological changes with the human form of the disease, we propose that the Chihuahua dog could be a good animal model of CLN7 disease

Hereditary sensory and autonomic neuropathy in a family of mixed breed dogs associated with a novel RETREG1 variant.

BACKGROUND: Hereditary sensory and autonomic neuropathies (HSANs) are a group of genetic disorders affecting the peripheral nervous system. Two different associated variants have been identified in dogs: 1 in Border Collies and 1 in Spaniels and Pointers. OBJECTIVES: Clinically and genetically characterize HSAN in a family of mixed breed dogs. ANIMALS: Five 7-month-old mixed breed dogs from 2 related litters were presented for evaluation of a 2-month history of acral mutilation and progressive pelvic limb gait abnormalities. METHODS: Complete physical, neurological, electrodiagnostic, and histopathological evaluations were performed. Whole genome sequencing of 2 affected dogs (1 from each litter) was used to identify variants that were homozygous or heterozygous in both cases, but wild type in 217 control genomes of 100 breeds. Immunohistochemistry was used to assess protein expression. RESULTS: Complete physical, neurological, electrodiagnostic, and histopathological evaluations confirmed a disorder affecting sensory and autonomic nerves. Whole genome sequencing identified a missense variant in the RETREG1 (reticulophagy regulator 1) gene (c.656C > T, p.P219L). All affected dogs were homozygous for the variant, which was not detected in 1193 dogs from different breeds. Immunohistochemistry showed no expression of RETREG1 in the cerebellum of affected dogs. One of the affected dogs lived for 5 years and showed gradual progression of the clinical signs. CONCLUSIONS AND CLINICAL IMPORTANCE: We confirmed the diagnosis of HSAN in a family of mixed breed dogs and identified a novel and possibly pathogenic RETREG1 variant. Affected dogs experienced gradual deterioration over several years

Building Performance Evaluation – A design approach for refurbishment of a small traditional building in Scotland

The drive for carbon dioxide (CO2) emission reductions has, in recent years, seen thermal improvements being made to the fabric of historic buildings. This paper discusses, through a case study, the use of Building Performance Evaluation (BPE) to inform refurbishment design of the community owned Land Sea and Islands Centre, located in Arisaig, Scottish Highlands. This is a 19th century stone building with high heat losses, inefficient heating and lighting systems, resulting in occupant discomfort and high running costs. Funding was awarded in 2014 to improve its energy performance. Pre-refurbishment BPE results identified areas of significant heat loss, low internal surface temperatures, discrepancies between predicted and measured U-values, thermal bridges and excessive air infiltration. Refurbishment was completed in June 2015 and post-refurbishment BPE utilised to quantify improvements in building fabric, energy consumption and comfort levels, advocating pre-refurbishment BPE as a beneficial tool for informing traditional building refurbishment

Solar radiation and soil moisture drive tropical forest understory responses to experimental and natural hurricanes

Tropical forest understory regeneration occurs rapidly after disturbance with compositional trajectories that depend on species availability and environmental conditions. To predict future tropical forest regeneration dynamics, we need a deeper understanding of how pulse disturbance events, like hurricanes, interact with environmental variability to affect understory demography and composition. We examined fern and sapling mortality, recruitment, and community composition in relation to solar radiation and soil moisture using 17 years of forest dynamics data (2003–2019) from the Canopy Trimming Experiment in the Luquillo Experimental Forest, Puerto Rico. Solar radiation increased 150% and soil moisture increased 40% following canopy trimming of experimental plots relative to control plots. All plots were disturbed in 2017 by Hurricanes Irma and Maria, so experimentally trimmed plots presented the opportunity to study the effects of multiple hurricanes, while control plots isolated the effects of a single natural hurricane. Recruitment rates maximized at 0.14 individuals/plot/month for ferns and 0.20 stems/plot/month for saplings. Recruitment and mortality were distributed more evenly over the 17 years of monitoring in experimentally trimmed plots than in control plots; however, following Hurricane Maria demographic rates substantially increased in control plots only. In experimentally trimmed plots, the largest community compositional shifts occurred as a result of the trimming events, and compositional changes were greatest for control plots after Hurricane Maria in 2017. Pioneer tree and fern species increased in abundance in response to both simulated and natural hurricanes. Following Hurricane Maria, two dominant pioneer species, Cyathea arborea and Cecropia schreberiana, recruited abundantly, but only in control plots. In trimmed plots, increased solar radiation and soil moisture shifted understory species composition steadily toward pioneer and secondary-successional species, with soil moisture interacting strongly with canopy trimming. Thus, both solar radiation and soil moisture are environmental drivers affecting pioneer species recruitment following disturbance, which interact with canopy opening following hurricanes. Our results suggest that if hurricane disturbances increase in frequency and severity, as suggested by climate change predictions, the understory regeneration of late-successional species, such as Manilkara bidentata and Sloanea berteroana, which prefer deeper shade and slightly drier soil microsites, may become imperiled

Services just for men? Insights from a national study of the well men services pilots.

Men continue to have a lower life expectancy in most countries compared to women. Explanations of this gendered health inequality tend to focus on male risk taking, unhealthy lifestyle choices and resistance to seeking help from health services. In the period 2005-2008 the Scottish Government funded a nationwide community health promotion programme aimed at improving men's health, called Well Men Service Pilots (henceforth WMS)