Dilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study (EWAS) to assess the contribution of ...missense variants to sporadic DCM.
116,855 single nucleotide variants (SNVs) were analyzed in 2796 DCM patients and 6877 control subjects from 6 populations of European ancestry. We confirmed two previously identified associations with SNVs in BAG3 and ZBTB17 and discovered six novel DCM-associated loci (Q-value<0.01). The lead-SNVs at novel loci are common and located in TTN, SLC39A8, MLIP, FLNC, ALPK3 and FHOD3. In silico fine mapping identified HSPB7 as the most likely candidate at the ZBTB17 locus. Rare variant analysis (MAF<0.01) demonstrated significant association for TTN variants only (P = 0.0085). All candidate genes but one (SLC39A8) exhibit preferential expression in striated muscle tissues and mutations in TTN, BAG3, FLNC and FHOD3 are known to cause familial cardiomyopathy. We also investigated a panel of 48 known cardiomyopathy genes. Collectively, rare (n = 228, P = 0.0033) or common (n = 36, P = 0.019) variants with elevated in silico severity scores were associated with DCM, indicating that the spectrum of genes contributing to sporadic DCM extends beyond those identified here.
We identified eight loci independently associated with sporadic DCM. The functions of the best candidate genes at these loci suggest that proteostasis regulation might play a role in DCM pathophysiology.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
The bacteria originated from the paper mill sludge were identified, isolated and cultured. Enterobacter (E) and Klebsiella (K) represented 70% of the culturable aerobic flora. Kinetics of EPS ...production in isolated culture and in arbitrary 1:1 mixture was investigated by high-pressure size exclusion chromatography (HPSEC). In isolated culture, Enterobacter produced regularly and gradually during 24h of culture, while Klebsiella produced the total amount of EPS already after 4h without any changes later. The chromatographic profiles of the EPS production of the 1:1 mixture after 4, 8 and 24h of culture could be fitted as a linear combination of the profiles of exopolymers produced by pure Enterobacter and Klebsiella strains. After 24h of culture, Enterobacter was predominant in term of population (82%) and produced about 77% EPS amount, in spite of competition phenomena observed during culture.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK, ZRSKP
Sea lice are a major health hazard for farmed Atlantic salmon in Europe, and their impact is felt globally. Given the breadth of ongoing research in sea lice dispersal and population modelling, and ...focus on research-led adaptive management, we brought experts together to discuss research knowledge gaps. Gaps for salmon lice infection pressure from fish farms were identified and scored by experts in sea lice-aquaculture-environment interactions, at an international workshop in 2021. The contributors included experts based in Scotland, Norway, Ireland, Iceland, Canada, the Faroe Islands, England and Australia, employed by governments, industry, universities and non-government organisations. The workshop focused on knowledge gaps underpinning 5 key stages in salmon lice infection pressure from fish farms: larval production; larval transport and survival; exposure and infestation of new hosts; development and survival of the attached stages; and impact on host populations. A total of 47 research gaps were identified; 5 broad themes emerged with 13 priority research gaps highlighted as important across multiple sectors. The highest-ranking gap called for higher quality and frequency of on-farm lice count data, along with better sharing of information across sectors. We highlight the need for synergistic international collaboration to maximise transferable knowledge. Round table discussions through collaborative workshops provide an important forum for experts to discuss and agree research priorities.
Sustainability of aquaculture, an important component of the blue economy, relies in part on ensuring assessment of environmental impact and interactions relating to sea lice dispersing from open pen ...salmon and trout farms. We review research underpinning the key stages in the sea lice infection process to support modelling of lice on wild salmon in relation to those on farms. The review is split into 5 stages: larval production; larval transport and survival; exposure and infestation of new hosts; development and survival of the attached stages; and impact on host populations. This modular structure allows the existing published data to be reviewed and assessed to identify data gaps in modelling sea lice impacts in a systematic way. Model parameterisation and parameter variation is discussed for each stage, providing an overview of knowledge strength and gaps. We conclude that a combination of literature review, empirical data collection and modelling studies are required on an iterative basis to ensure best practice is applied for sustainable aquaculture. The knowledge gained can then be optimised and applied at regional scales, with the most suitable modelling frameworks applied for the system, given regional limitations.
The Levitated Dipole Experiment (LDX) magnet system Schultz, J.H.; Kesner, J.; Minervini, J.V. ...
IEEE transactions on applied superconductivity,
06/1999, Volume:
9, Issue:
2
Journal Article, Conference Proceeding
Peer reviewed
In the Levitated Dipole Experiment (LDX), a hot plasma is formed about a levitating superconducting dipole magnet in the center of a 5 m diameter vacuum vessel. The levitated magnet is suspended ...magnetically during an eight hour experimental run, then lowered and recooled overnight. The floating F-coil magnet consists of a layer-wound magnet with 4 sections, designed to wrap flux lines closely about the outside of the levitated cryostat. The conductor is a niobium-tin Rutherford cable, with enough stabilizer to permit passive quench protection. Lead strips are used as thermal capacitors to slow coil heating. An optimized system of bumpers and cold-mass supports reduces heat leak into the helium vessel. Airbags catch the floating coil on quenches and faults, preventing collision with the vacuum vessel.
The Galactic population of Open Clusters provides an insight into star formation in the Galaxy. The open cluster catalogue by Dias et al. Astron. Astrophys. 389, 871 (2002) is a rich source of data, ...including kinematic information. This large sample made it possible to carry out a systematic analysis of 481 open cluster orbits, using parameters based on orbit eccentricity and separation from the Galactic plane. These two parameters may be indicative of origin, and we find them to be correlated. We also find them to be correlated with metallicity, another parameter suggested elsewhere to be a marker for origin in that high values of any of these two parameters generally indicate a low metallicity (Fe/H Solar<−0.2dex). The resulting analysis points to four open clusters in the catalogue being of extra-Galactic origin by impact of high velocity cloud on the disk: Berkeley21, 32, 99, and Melotte66, with a possible further four due to this origin (NGC2158, 2420, 7789, IC1311). A further three may be due to Galactic globular cluster impact on the disk i.e of internal Galactic origin (NGC6791, 1817, and 7044).
Nutritional vitamin D supplements are often used in general pediatrics. Here, the aim is to address vitamin D supplementation and calcium nutritional intakes in newborns, infants, children, and ...adolescents to prevent vitamin D deficiency and rickets in general populations.
We formulated clinical questions relating to the following categories: the Patient (or Population) to whom the recommendation will apply; the Intervention being considered; the Comparison (which may be “no action,” placebo, or an alternative intervention); and the Outcomes affected by the intervention (PICO). These PICO elements were arranged into the questions to be addressed in the literature searches. Each PICO question then formed the basis for a statement. The population covered consisted of children aged between 0 and 18 years and premature babies hospitalized in neonatology. Two groups were assembled: a core working group and a voting panel from different scientific pediatric committees from the French Society of Pediatrics and national scientific societies.
We present here 35 clinical practice points (CPPs) for the use of native vitamin D therapy (ergocalciferol, vitamin D2 and cholecalciferol, vitamin D3) and calcium nutritional intakes in general pediatric populations.
This consensus document was developed to provide guidance to health care professionals on the use of nutritional vitamin D and dietary modalities to achieve the recommended calcium intakes in general pediatric populations. These CPPs will be revised periodically. Research recommendations to study key vitamin D outcome measures in children are also suggested.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
U-BIOPRED is a European Union consortium of 20 academic institutions, 11 pharmaceutical companies and six patient organisations with the objective of improving the understanding of asthma disease ...mechanisms using a systems biology approach.This cross-sectional assessment of adults with severe asthma, mild/moderate asthma and healthy controls from 11 European countries consisted of analyses of patient-reported outcomes, lung function, blood and airway inflammatory measurements.Patients with severe asthma (nonsmokers, n=311; smokers/ex-smokers, n=110) had more symptoms and exacerbations compared to patients with mild/moderate disease (n=88) (2.5 exacerbations versus 0.4 in the preceding 12 months; p<0.001), with worse quality of life, and higher levels of anxiety and depression. They also had a higher incidence of nasal polyps and gastro-oesophageal reflux with lower lung function. Sputum eosinophil count was higher in severe asthma compared to mild/moderate asthma (median count 2.99% versus 1.05%; p=0.004) despite treatment with higher doses of inhaled and/or oral corticosteroids.Consistent with other severe asthma cohorts, U-BIOPRED is characterised by poor symptom control, increased comorbidity and airway inflammation, despite high levels of treatment. It is well suited to identify asthma phenotypes using the array of "omic" datasets that are at the core of this systems medicine approach.
Left ventricular assist device (LVAD)–associated infections may be life-threatening and impact patients' outcome. We aimed to identify the characteristics, risk factors, and prognosis of ...LVAD-associated infections.
Patients included in the ASSIST-ICD study (19 centers) were enrolled. The main outcome was the occurrence of LVAD-associated infection (driveline infection, pocket infection, or pump/cannula infection) during follow-up.
Of the 652 patients enrolled, 201 (30.1%) presented a total of 248 LVAD infections diagnosed 6.5 months after implantation, including 171 (26.2%), 51 (7.8%), and 26 (4.0%) percutaneous driveline infection, pocket infection, or pump/cannula infection, respectively. Patients with infections were aged 58.7 years, and most received HeartMate II (82.1%) or HeartWare (13.4%). Most patients (62%) had implantable cardioverter-defibrillators (ICDs) before LVAD, and 104 (16.0%) had ICD implantation, extraction, or replacement after the LVAD surgery. Main pathogens found among the 248 infections were Staphylococcus aureus (n = 113’ 45.4%), Enterobacteriaceae (n = 61; 24.6%), Pseudomonas aeruginosa (n = 34; 13.7%), coagulase-negative staphylococci (n = 13; 5.2%), and Candida species (n = 13; 5.2%). In multivariable analysis, HeartMate II (subhazard ratio, 1.56; 95% CI, 1.03 to 2.36; P = .031) and ICD-related procedures post-LVAD (subhazard ratio, 1.43; 95% CI, 1.03-1.98; P = .031) were significantly associated with LVAD infections. Infections had no detrimental impact on survival.
Left ventricular assist device–associated infections affect one-third of LVAD recipients, mostly related to skin pathogens and gram-negative bacilli, with increased risk with HeartMate II as compared with HeartWare, and in patients who required ICD-related procedures post-LVAD. This is a plea to better select patients needing ICD implantation/replacement after LVAD implantation.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
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