| 1. |
- Vershinina, T, et al.
(författare)
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Genetic Spectrum of Left Ventricular Non-Compaction in Paediatric Patients
- 2020
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Ingår i: Cardiology. - : S. Karger AG. - 1421-9751 .- 0008-6312. ; 145:11, s. 746-755
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Tidskriftsartikel (refereegranskat)abstract
- <b><i>Introduction:</i></b> Left ventricular non-compaction (LVNC) represents a genetically heterogeneous cardiomyopathy which occurs in both children and adults. Its genetic spectrum overlaps with other types of cardiomyopathy. However, LVNC phenotypes in different age groups can have distinct genetic aetiologies. The aim of the study was to decipher the genetic spectrum of LVNC presented in childhood. <b><i>Patient Group and Methods:</i></b> Twenty patients under the age of 18 years diagnosed with LVNC were enrolled in the study. Target sequencing and whole-exome sequencing were performed using a panel of 108 cardiomyopathy-associated genes. Pathogenic, likely pathogenic, and variants of unknown significance found in genes highly expressed in cardiomyocytes were considered as variants of interest for further analysis. <b><i>Results:</i></b> The median age at presentation was 8.0 (0.1–17) years, with 6 patients presenting before 1 year of age. Twelve (60%) patients demonstrated reduced ejection fraction. Right ventricular (RV) dilation was registered in 6 (30%), often in combination with reduced RV contractility (25%). Almost half (45%) of the patients demonstrated biventricular involvement already at disease presentation. For pathogenic and likely pathogenic variants, the positive genotyping rate was 45%, and these variants were found mainly in non-contractile structural sarcomeric genes (<i>ACTN2</i>, <i>MYPN</i>, and <i>TTN</i>) or in metabolic and signal transduction genes (<i>BRAF</i> and <i>TAZ</i>). Likely pathogenic <i>TAZ</i> variants were detected in all 5 patients suspected of having Barth syndrome. No pathogenic or likely pathogenic variants were found in genes encoding for sarcomeric contractile proteins, but variants of unknown significance were detected in 3 out of 20 patients (<i>MYH6</i>, <i>MYH7</i>, and <i>MYLK2</i>). In 4 patients, variants of unknown significance in ion-channel genes were detected. <b><i>Conclusion:</i></b> We detected a low burden of contractile sarcomeric variants in LVNC patients presenting below the age of 18 years, with the major number of variants residing in non-contractile structural sarcomeric genes. The identification of the variants in ion-channel and related genes not previously associated with LVNC in paediatric patients requires further examination of their functional role.
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| 2. |
- Andreeva, S, et al.
(författare)
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Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant
- 2022
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Ingår i: Frontiers in genetics. - : Frontiers Media SA. - 1664-8021. ; 13, s. 743472-
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary diseases, and it is associated with fatal complications. The clinical heterogeneity of HCM requires risk prediction models to identify patients at a high risk of adverse events. Most HCM cases are caused by mutations in genes encoding sarcomere proteins. However, HCM is associated with rare genetic variants with limited data about its clinical course and prognosis, and existing risk prediction models are not validated for such patients’ cohorts. TRIM63 is one of the rare genes recently described as a cause of HCM with autosomal-recessive inheritance. Herein, we present two cases of HCM associated with TRIM63-compound heterozygous variants in young male sportsmen. They demonstrated progressively marked hypertrophy, advanced diastolic dysfunction, a significant degree of fibrosis detected by magnetic resonance imaging, and clear indications for implantable cardioverter-defibrillator. One of the cases includes the first description of TRIM63-HCM with extreme hypertrophy. The presented cases are discussed in light of molecular consequences that might underlie cardiac and muscle phenotype in patients with mutations of TRIM63, the master regulator of striated muscle mass.
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| 3. |
- Fiore, A., et al.
(författare)
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Close, bright, and boxy : the superluminous SN 2018hti
- 2022
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Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 512:3, s. 4484-4502
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Tidskriftsartikel (refereegranskat)abstract
- SN 2018hti was a very nearby (z = 0.0614) superluminous supernova with an exceedingly bright absolute magnitude of −21.7 mag in r band at maximum. The densely sampled pre-maximum light curves of SN 2018hti show a slow luminosity evolution and constrain the rise time to ∼50 rest-frame d. We fitted synthetic light curves to the photometry to infer the physical parameters of the explosion of SN 2018hti for both the magnetar and the CSM-interaction scenarios. We conclude that one of two mechanisms could be powering the luminosity of SN 2018hti; interaction with ∼10 M⊙ of circumstellar material or a magnetar with a magnetic field of Bp∼ 1.3 × 1013 G, and initial period of Pspin∼ 1.8 ms. From the nebular spectrum modelling we infer that SN 2018hti likely results from the explosion of a ∼40M⊙∼40M⊙ progenitor star.
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| 4. |
- 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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| 5. |
- Vakhrushev, Y, et al.
(författare)
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RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart
- 2021
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Ingår i: Genes. - : MDPI AG. - 2073-4425. ; 12:1
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- RBM20 (RNA-binding motif protein 20) is a splicing factor targeting multiple cardiac genes, and its mutations cause cardiomyopathies. Originally, RBM20 mutations were discovered to cause the development of dilated cardiomyopathy by erroneous splicing of the gene TTN (titin). Titin is a giant protein found in a structure of the sarcomere that functions as a molecular spring and provides a passive stiffness to the cardiomyocyte. Later, RBM20 mutations were also described in association with arrhythmogenic right ventricular cardiomyopathy and left ventricular noncompaction cardiomyopathy. Here, we present a clinical case of a rare arrhythmogenic phenotype and no structural cardiac abnormalities associated with a RBM20 genetic variant of uncertain significance.
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| 6. |
- Blondin, Stéphane, et al.
(författare)
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StaNdaRT : a repository of standardised test models and outputs for supernova radiative transfer
- 2022
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 668
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Tidskriftsartikel (refereegranskat)abstract
- We present the first results of a comprehensive supernova (SN) radiative-transfer (RT) code-comparison initiative (StaNdaRT), where the emission from the same set of standardised test models is simulated by currently used RT codes. We ran a total of ten codes on a set of four benchmark ejecta models of Type Ia SNe. We consider two sub-Chandrasekhar-mass (Mtot = 1.0 M⊙) toy models with analytic density and composition profiles and two Chandrasekhar-mass delayed-detonation models that are outcomes of hydrodynamical simulations. We adopt spherical symmetry for all four models. The results of the different codes, including the light curves, spectra, and the evolution of several physical properties as a function of radius and time are provided in electronic form in a standard format via a public repository. We also include the detailed test model profiles and several Python scripts for accessing and presenting the input and output files. We also provide the code used to generate the toy models studied here. In this paper, we describe the test models, radiative-transfer codes, and output formats in detail, and provide access to the repository. We present example results of several key diagnostic features.
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| 7. |
- Prentice, S. J., et al.
(författare)
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Transitional events in the spectrophotometric regime between stripped envelope and superluminous supernovae
- 2021
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Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 508:3, s. 4342-4358
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Tidskriftsartikel (refereegranskat)abstract
- The division between stripped-envelope supernovae (SE-SNe) and superluminous supernovae (SLSNe) is not well-defined in either photometric or spectroscopic space. While a sharp luminosity threshold has been suggested, there remains an increasing number of transitional objects that reach this threshold without the spectroscopic signatures common to SLSNe. In this work, we present data and analysis on four SNe transitional between SE-SNe and SLSNe; the He-poor SNe 2019dwa and 2019cri, and the He-rich SNe 2019hge and 2019unb. Each object displays long-lived and variable photometric evolution with luminosities around the SLSN threshold of Mr < −19.8 mag. Spectroscopically however, these objects are similar to SE-SNe, with line velocities lower than either SE-SNe and SLSNe, and thus represent an interesting case of rare transitional events.
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| 8. |
- Dimitriadis, Georgios, et al.
(författare)
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SN 2021zny : an early flux excess combined with late-time oxygen emission suggests a double white dwarf merger event
- 2023
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Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 521:1, s. 1162-1183
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Tidskriftsartikel (refereegranskat)abstract
- We present a photometric and spectroscopic analysis of the ultraluminous and slowly evolving 03fg-like Type Ia SN 2021zny. Our observational campaign starts from similar to 5.3 h after explosion (making SN 2021zny one of the earliest observed members of its class), with dense multiwavelength coverage from a variety of ground-and space-based telescopes, and is concluded with a nebular spectrum similar to 10 months after peak brightness. SN 2021zny displayed several characteristics of its class, such as the peak brightness (M-B = -19.95 mag), the slow decline (delta m(15)(B) = 0.62 mag), the blue early-time colours, the low ejecta velocities, and the presence of significant unburned material above the photosphere. However, a fluxexcess for the first similar to 1.5 d after explosion is observed in four photometric bands, making SN 2021zny the third 03fg-like event with this distinct behaviour, while its + 313 d spectrum shows prominent [OI] lines, a very unusual characteristic of thermonuclear SNe. The early flux excess can be explained as the outcome of the interaction of the ejecta with similar to 0 . 04 M-? of H/He-poor circumstellar material at a distance of similar to 10(12) cm, while the low ionization state of the late-time spectrum re veals lo w abundances of stable iron-peak elements. All our observations are in accordance with a progenitor system of two carbon/oxygen white dwarfs that undergo a merger event, with the disrupted white dwarf ejecting carbon-rich circumstellar material prior to the primary white dwarf detonation.
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| 9. |
- Michnowski, S., et al.
(författare)
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Review of Relationships Between Solar Wind and Ground-Level Atmospheric Electricity : Case Studies from Hornsund, Spitsbergen, and Swider, Poland
- 2021
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Ingår i: Surveys in geophysics. - : Springer. - 0169-3298 .- 1573-0956. ; 42:3, s. 757-801
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Forskningsöversikt (refereegranskat)abstract
- This paper reviews individual cases of the relationships between variations of solar wind parameters and variations of the DC vertical atmospheric electric field, E-z, and current density, J(z), measured at ground level in the Arctic, at the S. Siedlecki Polish Polar Station Hornsund, Spitsbergen (Svalbard, Norway), and at the mid-latitude S. Kalinowski Geophysical Observatory in Swider (Poland). A considerable number of events from Hornsund confirmed previous observations of regularity of effects related to the station's position against the location of the potential bays of ionospheric convection and polar electrojets, observed in other polar locations, as well as effects of other polar cap current systems. This allowed us to conclude that the physical dependence of ground-level E-z and J(z) on solar wind changes produce measurable effects which do not require statistical analysis to be observed. We can also expect that the dependence does exist, especially in strongly disturbed circumstances, e.g., following solar flares and Earth-directed coronal mass ejections, at middle latitudes. However, further investigations of these physical relationships by this approach are practically almost impossible since a very large number of variable parameters simultaneously affect the recorded lower atmospheric variables. In addition, results of quantitative analysis of predicted and observed effects are not satisfactory. Future research studies require more efficient ways of investigation by theoretical treatment and modelling work using existing and novel observational data besides taking advantage of scientific progress in magnetospheric physics.
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