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- Kovalchuk, T, et al.
(författare)
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Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children
- 2021
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Ingår i: Frontiers in cardiovascular medicine. - : Frontiers Media SA. - 2297-055X. ; 8, s. 668231-
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Emery-Dreifuss muscular dystrophy (EDMD) is inherited muscle dystrophy often accompanied by cardiac abnormalities in the form of supraventricular arrhythmias, conduction defects and sinus node dysfunction. Cardiac phenotype typically arises years after skeletal muscle presentation, though, could be severe and life-threatening. The defined clinical manifestation with joint contractures, progressive muscle weakness and atrophy, as well as cardiac symptoms are observed by the third decade of life. Still, clinical course and sequence of muscle and cardiac signs may be variable and depends on the genotype. Cardiac abnormalities in patients with EDMD in pediatric age are not commonly seen. Here we describe five patients with different forms of EDMD (X-linked and autosomal-dominant) caused by the mutations in EMD and LMNA genes, presented with early onset of cardiac abnormalities and no prominent skeletal muscle phenotype. The predominant forms of cardiac pathology were atrial arrhythmias and conduction disturbances that progress over time. The presented cases discussed in the light of therapeutic strategy, including radiofrequency ablation and antiarrhythmic devices implantation, and the importance of thorough neurological and genetic screening in pediatric patients presenting with complex heart rhythm disorders.
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- Gallagher, A. J., et al.
(författare)
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Observational constraints on the origin of the elements II. 3D non-LTE formation of BaII lines in the solar atmosphere
- 2020
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 634
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Tidskriftsartikel (refereegranskat)abstract
- Context. The pursuit of more realistic spectroscopic modelling and consistent abundances has led us to begin a new series of papers designed to improve current solar and stellar abundances of various atomic species. To achieve this, we have begun updating the three-dimensional (3D) non-local thermodynamic equilibrium (non-LTE) radiative transfer code, MULTI3D, and the equivalent one-dimensional (1D) non-LTE radiative transfer code, MULTI 2.3.Aims. We examine our improvements to these codes by redetermining the solar barium abundance. Barium was chosen for this test as it is an important diagnostic element of the s-process in the context of galactic chemical evolution. New BaII + H collisional data for excitation and charge exchange reactions computed from first principles had recently become available and were included in the model atom. The atom also includes the effects of isotopic line shifts and hyperfine splitting.Methods. A grid of 1D LTE barium lines were constructed with MULTI 2.3 and fit to the four BaII lines available to us in the optical region of the solar spectrum. Abundance corrections were then determined in 1D non-LTE, 3D LTE, and 3D non-LTE. A new 3D non-LTE solar barium abundance was computed from these corrections.Results. We present for the first time the full 3D non-LTE barium abundance of A(Ba) = 2.27 +/- 0.02 +/- 0.01, which was derived from four individual fully consistent barium lines. Errors here represent the systematic and random errors, respectively.
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- Yakovleva, S. A., et al.
(författare)
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Data on inelastic processes in low-energy potassium-hydrogen and rubidium-hydrogen collisions
- 2018
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Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 473:3, s. 3810-3817
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Tidskriftsartikel (refereegranskat)abstract
- Two sets of rate coefficients for low-energy inelastic potassium-hydrogen and rubidium-hydrogen collisions were computed for each collisional system based on two model electronic structure calculations, performed by the quantum asymptotic semi-empirical and the quantum asymptotic linear combinations of atomic orbitals (LCAO) approaches, followed by quantum multichannel calculations for the non-adiabatic nuclear dynamics. The rate coefficients for the charge transfer (mutual neutralization, ion-pair formation), excitation and de-excitation processes are calculated for all transitions between the five lowest lying covalent states and the ionic states for each collisional system for the temperature range 1000–10 000 K. The processes involving higher lying states have extremely low rate coefficients and, hence, are neglected. The two model calculations both single out the same partial processes as having large and moderate rate coefficients. The largest rate coefficients correspond to the mutual neutralization processes into the K(5s 2S) and Rb(4d 2D) final states and at temperature 6000 K have values exceeding 3 × 10−8 cm3 s−1 and 4 × 10−8 cm3 s−1, respectively. It is shown that both the semi-empirical and the LCAO approaches perform equally well on average and that both sets of atomic data have roughly the same accuracy. The processes with large and moderate rate coefficients are likely to be important for non-LTE modelling in atmospheres of F, G and K-stars, especially metal-poor stars.
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- Bakalkin, Georgy, et al.
(författare)
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Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.
- 2010
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 87:5, s. 593-603
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Tidskriftsartikel (refereegranskat)abstract
- Spinocerebellar ataxias (SCAs) are dominantly inherited neurodegenerative disorders characterized by progressive cerebellar ataxia and dysarthria. We have identified missense mutations in prodynorphin (PDYN) that cause SCA23 in four Dutch families displaying progressive gait and limb ataxia. PDYN is the precursor protein for the opioid neuropeptides, α-neoendorphin, and dynorphins A and B (Dyn A and B). Dynorphins regulate pain processing and modulate the rewarding effects of addictive substances. Three mutations were located in Dyn A, a peptide with both opioid activities and nonopioid neurodegenerative actions. Two of these mutations resulted in excessive generation of Dyn A in a cellular model system. In addition, two of the mutant Dyn A peptides induced toxicity above that of wild-type Dyn A in cultured striatal neurons. The fourth mutation was located in the nonopioid PDYN domain and was associated with altered expression of components of the opioid and glutamate system, as evident from analysis of SCA23 autopsy tissue. Thus, alterations in Dyn A activities and/or impairment of secretory pathways by mutant PDYN may lead to glutamate neurotoxicity, which underlies Purkinje cell degeneration and ataxia. PDYN mutations are identified in a small subset of ataxia families, indicating that SCA23 is an infrequent SCA type (~0.5%) in the Netherlands and suggesting further genetic SCA heterogeneity.
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- Storm, N., et al.
(författare)
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3D NLTE modelling of Y and Eu : Centre-to-limb variation and solar abundances
- 2024
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 683
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Tidskriftsartikel (refereegranskat)abstract
- Context: Abundances of s- and r-process elements in Sun-like stars constrain nucleosynthesis in extreme astrophysical events, such as compact binary mergers and explosions of highly magnetised rapidly rotating massive stars.Aims: We measure solar abundances of yttrium (Y) and europium (Eu) using 3D non-local thermal equilibrium (NLTE) models. We use the model to determine the abundance of Y, and also explore the model's ability to reproduce the solar centre-to-limb variation of its lines. In addition, we determine the Eu abundance using solar disc-centre and integrated flux spectra.Methods: We developed an NLTE model of Eu and updated our model of Y with collisional data from detailed quantum-mechanical calculations. We used the IAG spatially resolved high-resolution solar spectra to derive the solar abundances of Y across the solar disc and of Eu for integrated flux and at disc centre using a set of carefully selected lines and a 3D radiation-hydrodynamics model of the solar atmosphere.Results: We find 3D NLTE solar abundances of A(Y)(3D NLTE) = 2.30 ± 0.03stat ± 0.07syst dex based on observations at all angles and A(Eu) = 0.57 ± 0.01stat ± 0.06syst dex based on the integrated flux and disc-centre intensity. 3D NLTE modelling offers the most consistent abundances across the solar disc, and resolves the problem of severe systematic bias in Y and Eu abundances inherent to 1D LTE, 1D NLTE, and 3D LTE modelling.
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- Adjan, V. V., et al.
(författare)
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Caspase-3 activity is reduced after spinal cord injury in mice lacking dynorphin : differential effects on glia and neurons
- 2007
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Ingår i: Neuroscience. - : Elsevier BV. - 0306-4522 .- 1873-7544. ; 148:3, s. 724-36
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Tidskriftsartikel (refereegranskat)abstract
- Dynorphins are endogenous opioid peptide products of the prodynorphin gene. An extensive literature suggests that dynorphins have deleterious effects on CNS injury outcome. We thus examined whether a deficiency of dynorphin would protect against tissue damage after spinal cord injury (SCI), and if individual cell types would be specifically affected. Wild-type and prodynorphin(-/-) mice received a moderate contusion injury at 10th thoracic vertebrae (T10). Caspase-3 activity at the injury site was significantly decreased in tissue homogenates from prodynorphin(-/-) mice after 4 h. We examined frozen sections at 4 h post-injury by immunostaining for active caspase-3. At 3-4 mm rostral or caudal to the injury, >90% of all neurons, astrocytes and oligodendrocytes expressed active caspase-3 in both wild-type and knockout mice. At 6-7 mm, there were fewer caspase-3(+) oligodendrocytes and astrocytes than at 3-4 mm. Importantly, caspase-3 activation was significantly lower in prodynorphin(-/-) oligodendrocytes and astrocytes, as compared with wild-type mice. In contrast, while caspase-3 expression in neurons also declined with further distance from the injury, there was no effect of genotype. Radioimmunoassay showed that dynorphin A(1-17) was regionally increased in wild-type injured versus sham-injured tissues, although levels of the prodynorphin processing product Arg(6)-Leu-enkephalin were unchanged. Our results indicate that dynorphin peptides affect the extent of post-injury caspase-3 activation, and that glia are especially sensitive to these effects. By promoting caspase-3 activation, dynorphin peptides likely increase the probability of glial apoptosis after SCI. While normally beneficial, our findings suggest that prodynorphin or its peptide products become maladaptive following SCI and contribute to secondary injury.
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