Ebstein’s anomaly may be caused by mutations in the sarcomere protein gene MYH7

Ebstein's anomaly is a rare congenital heart malformation characterised by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. Associated abnormalities of left ventricular morphology and function including left ventricular noncompaction (LVNC) have been observed. An association between Ebstein's anomaly with LVNC and mutations in the sarcomeric protein gene MYH7, encoding β-myosin heavy chain, has been shown by recent studies. This might represent a specific subtype of Ebstein's anomaly with a Mendelian inheritance pattern. In this review we discuss the association of MYH7 mutations with Ebstein's anomaly and LVNC and its implications for the clinical care for patients and their family members.Congenital Heart Diseas

Markers of NETosis and DAMPs are altered in critically ill COVID-19 patients

Background Coronavirus disease 19 (COVID-19) is known to present with disease severities of varying degree. In its most severe form, infection may lead to respiratory failure and multi-organ dysfunction. Here we study the levels of extracellular histone H3 (H3), neutrophil elastase (NE) and cfDNA in relation to other plasma parameters, including the immune modulators GAS6 and AXL, ICU scoring systems and mortality in patients with severe COVID-19. Methods We measured plasma H3, NE, cfDNA, GAS6 and AXL concentration in plasma of 83 COVID-19-positive and 11 COVID-19-negative patients at admission to the Intensive Care Unit (ICU) at the Uppsala University hospital, a tertiary hospital in Sweden and a total of 333 samples obtained from these patients during the ICU-stay. We determined their correlation with disease severity, organ failure, mortality and other blood parameters. Results H3, NE, cfDNA, GAS6 and AXL were increased in plasma of COVID-19 patients compared to controls. cfDNA and GAS6 decreased in time in in patients surviving to 30 days post ICU admission. Plasma H3 was a common feature of COVID-19 patients, detected in 40% of the patients at ICU admission. Although these measures were not predictive of the final outcome of the disease, they correlated well with parameters of tissue damage (H3 and cfDNA) and neutrophil counts (NE). A subset of samples displayed H3 processing, possibly due to proteolysis. Conclusions Elevated H3 and cfDNA levels in COVID-19 patients illustrate the severity of the cellular damage observed in critically ill COVID-19 patients. The increase in NE indicates the important role of neutrophil response and the process of NETosis in the disease. GAS6 appears as part of an early activated mechanism of response in Covid-19.The study was supported through grants from the dedSciLifeLab/KAW national COVID-19 research program project grant (MH), by Scilifelab, the Knut and Alice Wallenberg Foundation and in part by the Swedish Research Council (RF, grant no 2014-02569 and 2014-07606), and the Netherlands Thrombosis Foundation (GN).N

betabeta-delayed fission of isomers in 188Bi^188Bi

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Laser-assisted decay spectroscopy for the ground states of 180,182Au^180,182Au

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Hyperfine anomaly in gold and magnetic moments of Ipi=11/2−I^pi=11/2^- gold isomers

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Laser-assisted decay spectroscopy and mass spectrometry of 178Au^178Au

A comprehensive study of the isotope 178Au has been made at the CERN-ISOLDE facility, using resonance laser ionization. Two long-lived states in 178Au were identified—a low-spin ground state and a high-spin isomer—each of which were produced as pure beams. Using the ISOLTRAP precision Penning trap, the excitation energy of the isomeric state in 178Au was determined to be E∗=189(14)keV. The α-decay fine structure patterns of the two states were studied using the Windmill decay station, providing information on the low-lying states in the daughter nucleus 174Ir. Nuclear spin assignments of I(178Aug)=(2,3) and I(178Aum)=(7,8) are made based on the observed β-decay feeding and hyperfine structure intensity patterns. These spin assignments are used for fitting the hyperfine structures of the two states from which values for the magnetic dipole moments are extracted. The extracted moments are compared with calculations using additivity relations to establish the most probable configurations for 178Aug,m

Purification and Characterization of a Novel Hypersensitive Response-Inducing Elicitor from Magnaporthe oryzae that Triggers Defense Response in Rice

<div><h3>Background</h3><p><em>Magnaporthe oryzae</em>, the rice blast fungus, might secrete certain proteins related to plant-fungal pathogen interactions.</p> <h3>Methodology/Principal Findings</h3><p>In this study, we report the purification, characterization, and gene cloning of a novel hypersensitive response-inducing protein elicitor (MoHrip1) secreted by <em>M. oryzae</em>. The protein fraction was purified and identified by de novo sequencing, and the sequence matched the genomic sequence of a putative protein from <em>M. oryzae</em> strain 70-15 (GenBank accession No. XP_366602.1). The elicitor-encoding gene <em>mohrip1</em> was isolated; it consisted of a 429 bp cDNA, which encodes a polypeptide of 142 amino acids with a molecular weight of 14.322 kDa and a pI of 4.53. The deduced protein, MoHrip1, was expressed in <em>E. coli</em>. And the expression protein collected from bacterium also forms necrotic lesions in tobacco. MoHrip1 could induce the early events of the defense response, including hydrogen peroxide production, callose deposition, and alkalization of the extracellular medium, in tobacco. Moreover, MoHrip1-treated rice seedlings possessed significantly enhanced systemic resistance to <em>M. oryzae</em> compared to the control seedlings. The real-time PCR results indicated that the expression of some pathogenesis-related genes and genes involved in signal transduction could also be induced by MoHrip1.</p> <h3>Conclusion/Significance</h3><p>The results demonstrate that MoHrip1 triggers defense responses in rice and could be used for controlling rice blast disease.</p> </div