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Background: There is conflicting observational data on the survival benefit cardiac implantable electronic devices (CIED) in patients with LVADs. Methods: Patients in whom an LVAD was implanted between January 2008 and April 2017 in the multinational Trans-Atlantic Registry on VAD and Transplant (TRAViATA) registry were separated into four groups based on the presence of CIED prior to LVAD implant
Background Although diabetic kidney disease demonstrates both familial clustering and single nucleotide polymorphism heritability, the specific genetic factors influencing risk remain largely unknown. Methods To identify genetic variants predisposing to diabetic kidney disease, we performed genomewide association study (GWAS) analyses. Through collaboration with the Diabetes Nephropathy Collaborat
PURPOSE: Clinical relapse is the major threat for patients with myelodysplastic syndrome (MDS) undergoing hematopoietic stem-cell transplantation (HSCT). Early detection of measurable residual disease (MRD) would enable preemptive treatment and potentially reduced relapse risk.METHODSPatients with MDS planned for HSCT were enrolled in a prospective, observational study evaluating the association b
Group A Streptococcus (GAS)causes infections ranging from mild sore throats to severe invasive disease; however, no licensed vaccine is currently available. In this thesis, the author leverages streptolysin O (SLO), an important GAS protein and therapeutic/vaccine target, as a model system to develop a multimodal protein mass spectrometry(MS) strategy. Through an integrated approach of MS-based pr
To reach their net-zero targets, countries will have to compensate hard-to-abate CO2 emissions through carbon dioxide removal (CDR). Yet, current assessments rarely include socio-cultural or institutional aspects or fail to contextualize CDR options for implementation. Here we present a context-specific feasibility assessment of CDR options for the example of Germany. We assess 14 CDR options, inc
Saturated fatty acids impose lipotoxic stress on pancreatic β cells, leading to β cell failure and diabetes. In this study, we investigate the critical role of organellar Ca2+ disturbance on defective autophagy and β cell lipotoxicity. Palmitate, a saturated fatty acid, induced perilysosomal Ca2+ elevation, sustained mTOR complex 1 (mTORC1) activation on the lysosomal membrane, suppression of the
Advances in liquid chromatography–mass spectrometry have significantly improved proteomic analyses of human plasma. However, information at the level of intact proteoforms remains limited due to the high dynamic range of protein abundance and the complexity of post-translational modifications. To address this challenge, we introduce soluble plasma proteoform analysis via acetonitrile precipitation
Part 1 of this Memorandum appeared in Vol. 49, pages 81-91. Part 2 covers neoplasia of the bovine urinary bladder; tumours of unknown cause (including melanomas, osteosarcomas, mammary tumours, lymphosarcomas, mastocytomas, transmissible venereal tumours, and histiocytomas); and the applications of animal models in studies of neoplasia. A summary of animal models is included as an annex.
The DAΦNE electron-positron collider of the Laboratori Nazionali di Frascati of INFN is a worldwide unique low-energy kaon source, which is being used to produce and to study kaonic atoms by the SIDDHARTA collaboration. The X-ray measurements of kaonic atoms play an important role for understanding the low-energy QCD in the strangeness sector. Significant achievements have been obtained by the SID
BACKGROUND: It is not clear if the European Systematic Coronary Risk Evaluation algorithm is useful for identifying prevalent subclinical atherosclerosis in a population of apparently healthy individuals. Our aim was to explore the association between the risk estimates from Systematic Coronary Risk Evaluation and prevalent subclinical atherosclerosis.DESIGN: The design of this study was as a cros
Background: Carriers of the transmembrane 6 superfamily member 2 E167K gene variant (TM6SF2EK/KK) have decreased expression of the TM6SF2 gene and increased risk of NAFLD and NASH. Unlike common 'obese/metabolic' NAFLD, these subjects lack hypertriglyceridemia and have lower risk of cardiovascular disease. In animals, phosphatidylcholine (PC) deficiency results in a similar phenotype. PCs surround
Background: Human milk is a complex fluid comprised of myriad substances, with one of the most abundant substances being a group of complex carbohydrates referred to as human milk oligosaccharides (HMOs). There has been some evidence that HMO profiles differ in populations, but few studies have rigorously explored this variability. Objectives: We tested the hypothesis that HMO profiles differ in d
Objective To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics. Design, setting and outcome measur
Background: Extraordinary progress has been made in our understanding of common variants in many diseases, including melanoma. Because the contribution of rare coding variants is not as well characterized, we performed an exome-wide, gene-based association study of familial cutaneous melanoma (CM) and ocular melanoma (OM). Methods: Using 11 990 jointly processed individual DNA samples, whole-exome
Observational studies suggest that higher birth weight (BW) is associated with increased risk of breast cancer in adult life. We conducted a two-sample Mendelian randomisation (MR) study to assess whether this association is causal. Sixty independent single nucleotide polymorphisms (SNPs) known to be associated at P < 5 × 10 −8
Background. Prevalence of childhood anxiety disorders at specific ages and genetic etiological influences on anxiety disorders in young children have been little studied. The present study reports prevalence estimates in a community sample of 6-year-old twins, and patterns of genetic and environmental influences on these early-onset anxiety disorders. Method. Using a two-phase design 4662 twin-pai
Purpose: Excess iron is involved in the development of non-communicable diseases such as cancer, type 2 diabetes and cardiovascular conditions. We aimed to describe the prevalence of excess iron and its determinants in healthy European adults. Methods: Sociodemographic, lifestyle, iron status, dietary information, and HFE genotyping were obtained from controls from the nested case–control study EP
Rheumatoid arthritis-associated joint pain is frequently observed independent of disease activity, suggesting unidentified pain mechanisms. We demonstrate that antibodies binding to cartilage, specific for collagen type II (CII) or cartilage oligomeric matrix protein (COMP), elicit mechanical hypersensitivity in mice, uncoupled from visual, histological and molecular indications of inflammation. C
In 2024–2025, the Cystic Fibrosis Foundation (US) and Cystic Fibrosis Trust (UK) hosted an International CFRD Consortium round-table webinar series for basic science, translational, and clinical researchers with the goal of sharpening mechanistic understanding of CFRD pathogenesis and prioritizing therapeutic development. This review summarizes the research priorities identified in the Internation
