Migratory waterbirds require an effectively conserved cohesive network of wetland areas throughout their range and life-cycle. Under rapid climate change, protected area (PA) networks need to be able ...to accommodate climate-driven range shifts in wildlife if they are to continue to be effective in the future. Thus, we investigated geographical variation in the relationship between local temperature anomaly and the abundance of 61 waterbird species during the wintering season across Europe and North Africa during 1990–2015. We also compared the spatio-temporal effects on abundance of sites designated as PAs, Important Bird and Biodiversity Areas (IBAs), both, or neither designation (Unlisted). Waterbird abundance was positively correlated with temperature anomaly, with this pattern being strongest towards north and east Europe. Waterbird abundance was higher inside IBAs, whether they were legally protected or not. Trends in waterbird abundance were also consistently more positive inside both protected and unprotected IBAs across the whole study region, and were positive in Unlisted wetlands in southwestern Europe and North Africa. These results suggest that IBAs are important sites for wintering waterbirds, but also that populations are shifting to unprotected wetlands (some of which are IBAs). Such IBAs may therefore represent robust candidate sites to expand the network of legally protected wetlands under climate change in north-eastern Europe. These results underscore the need for monitoring to understand how the effectiveness of site networks is changing under climate change.
Aim
Many species are showing distribution shifts in response to environmental change. We explored (a) the effects of inter‐annual variation in winter weather conditions on non‐breeding distributional ...abundance of waterbirds exploiting different habitats (deep‐water, shallow water, farmland) and (b) the long‐term shift in the population centroid of these species and investigate its link to changes in weather conditions.
Location
Europe.
Methods
We fitted generalized additive mixed Models to a large‐scale, 24‐year dataset (1990–2013) describing the winter distributional abundance of 25 waterbird species. We calculated the annual and long‐term (3‐year periods) population centroid of each species and used the winter North Atlantic Oscillation (NAO) index to explain the inter‐annual and long‐term shifts in their location.
Results
(a) Year‐to‐year southwestwards shifts in the population centroids of deep‐ and shallow‐water species were linked to negative NAO values. Shallow‐water species shifted northeastwards associated with positive NAO values and the distance shifted increased with increasing NAO. Deep‐water species shifted northeastwards up to zero NAO indices, but showed no further increase at higher NAO values. (b) Deep‐water species showed long‐term northeastwards shifts in distributional abundance throughout the 1990s and the 2000s. Shallow‐water species, on the other hand, shifted northeastwards during the 1990s and early 2000s, but southwestwards thereafter. There were no significant links between the NAO and year‐to‐year movements or long‐term shifts in farmland species’ population centroid.
Main Conclusions
We provide evidence for a link between both year‐to‐year and long‐term changes in waterbird winter distributional abundances at large geographical scales to short‐ and long‐term changes in winter weather conditions. We also show that species using shallow water, deep‐water and farmland habitats responded differently, especially at high NAO values. As well as important ecological implications, these findings contribute to the development of future conservation measures for these species under current and future climate change.
The pleomorphic clinical presentation makes the diagnosis of desminopathy difficult. We aimed to describe the prevalence, phenotypic expression, and mitochondrial function of individuals with ...putative disease-causing desmin (DES) variants identified in patients with an unexplained etiology of cardiomyopathy.
A total of 327 Czech patients underwent whole exome sequencing and detailed phenotyping in probands harboring DES variants.
Rare, conserved, and possibly pathogenic DES variants were identified in six (1.8%) probands. Two DES variants previously classified as variants of uncertain significance (p.(K43E), p.(S57L)), one novel DES variant (p.(A210D)), and two known pathogenic DES variants (p.(R406W), p.(R454W)) were associated with characteristic desmin-immunoreactive aggregates in myocardial and/or skeletal biopsy samples. The individual with the novel DES variant p.(Q364H) had a decreased myocardial expression of desmin with absent desmin aggregates in myocardial/skeletal muscle biopsy and presented with familial left ventricular non-compaction cardiomyopathy (LVNC), a relatively novel phenotype associated with desminopathy. An assessment of the mitochondrial function in four probands heterozygous for a disease-causing DES variant confirmed a decreased metabolic capacity of mitochondrial respiratory chain complexes in myocardial/skeletal muscle specimens, which was in case of myocardial succinate respiration more profound than in other cardiomyopathies.
The presence of desminopathy should also be considered in individuals with LVNC, and in the differential diagnosis of mitochondrial diseases.
Hypertrophic cardiomyopathy with severe left ventricular diastolic dysfunction has been associated with marked exercise intolerance and poor prognosis. However, molecular pathogenesis of this ...phenotype remains unexplained in a large proportion of cases.
We performed whole exome sequencing as an initial genetic test in a large Czech family with 3 males affected by nonobstructive hypertrophic cardiomyopathy with severe left ventricular diastolic dysfunction in end-stage disease. A novel frameshift mutation of four-and-a-half LIM domain 1 gene (FHL1) (c.599_600insT; p.F200fs32X) was detected in these individuals. The mutation does not affect transcription, splicing, and stability of FHL1 mRNA and results in production of truncated FHL1 protein, which is contrary to heart tissue homogenate not detectable in frozen tissue sections of myocardial biopsy of affected males. The identified mutation cosegregated also with abnormal ECG and with 1 case of apical hypertrophic cardiomyopathy in heterozygous females. Although skeletal muscle involvement is a common finding in FHL1-related diseases, we could exclude myopathy in all mutation carriers.
We identified a novel FHL1 mutation causing isolated hypertrophic cardiomyopathy with X-chromosomal inheritance.
Object
To evaluate the potential of quantitative MR techniques voxel-based morphometry (VBM), T2-relaxometry, mean diffusivity (MD), fractional anisotropy (FA) in the diagnostics of amyotrophic ...lateral sclerosis (ALS).
Materials and methods
Thirty-three ALS patients and thirty age- and sex-matched healthy volunteers were included in the cross-sectional study. T1WI, T2WI and T2 relaxometry sequences were performed at 1.5T. DWI was performed in a subgroup of 12 patients. Disease severity was estimated with the ALS Functional Rating Scale (ALS-FRS).
Results
We detected decreased T2 relaxation rate (R2) in the frontal white matter (FWM) (left and right
P
< 0.005) and caudate nucleus (left
P
< 0.005) in ALS patients. R2 in the FWM correlated with age in patients and controls. A correlation (
P
< 0.01, cluster-level corrected) between atrophy in the corona radiata and the limb ALS-FRS subset was found, as well as a difference between patients and controls in this area. No correlation between FA/MD and ALS-FRS was observed in the T2 hyperintense region of the posterior limb of the internal capsule (PLIC), or in the site of atrophy detected by VBM. No R2 or PD changes in the PLIC were detected. TBSS revealed decreased FA in the corona radiata and callosal body.
Conclusions
Decreased R2 in the left caudate and bilateral FWM may help in the diagnostic process and disqualifies these regions as internal controls in ALS studies. The PLIC is not a reliable diagnostic marker of ALS.
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