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Rare allelic forms of PRDM9 associated with childhood leukemogenesis

One of the most rapidly evolving genes in humans, PRDM9, is a key determinant of the distribution of meiotic recombination events. Mutations in this meiotic-specific gene have previously been associated with male infertility in humans and recent studies suggest that PRDM9 may be involved in pathological genomic rearrangements. In studying genomes from families with children affected by B-cell prec

Ultrasound-detected tenosynovitis independently associates with patient-reported flare in patients with rheumatoid arthritis in clinical remission : Results from the observational study STARTER of the Italian Society for Rheumatology

Objectives. This study aimed to estimate the prevalence of US-detected tenosynovitis in RA patients in clinical remission and to explore its clinical correlates.Methods. A total of 427 RA patients in clinical remission were consecutively enrolled from 25 Italian rheumatology centres. Tenosynovitis and synovitis were scored by US grey scale (GS) and power Doppler (PD) semi-quantitative scoring syst

Pharmacological modulation of vascular ageing: a review from VascAgeNet

Vascular ageing, characterized by structural and functional changes in blood vessels of which arterial stiffness and endothelial dysfunction are key components, is associated with increased risk of cardiovascular and other age-related diseases. As the global population continues to age, understanding the underlying mechanisms and developing effective therapeutic interventions to mitigate vascular

Multiparameter flow cytometry in the evaluation of myelodysplasia : Analytical issues: Recommendations from the European LeukemiaNet/International Myelodysplastic Syndrome Flow Cytometry Working Group

Multiparameter flow cytometry (MFC) is one of the essential ancillary methods in bone marrow (BM) investigation of patients with cytopenia and suspected myelodysplastic syndrome (MDS). MFC can also be applied in the follow-up of MDS patients undergoing treatment. This document summarizes recommendations from the International/European Leukemia Net Working Group for Flow Cytometry in Myelodysplasti

ASAS-EULAR recommendations for the management of axial spondyloarthritis : 2022 update

Objectives To update the Assessment of SpondyloArthritis international Society (ASAS)-EULAR recommendations for the management of axial spondyloarthritis (axSpA). Methods Following the EULAR Standardised Operating Procedures, two systematic literature reviews were conducted on non-pharmacological and pharmacological treatment of axSpA. In a task force meeting, the evidence was presented, discussed

Quadrupole and octupole collectivity in the semi-magic nucleus 20680Hg126

The first low-energy Coulomb-excitation measurement of the radioactive, semi-magic, two proton-hole nucleus 206Hg, was performed at CERN's recently-commissioned HIE-ISOLDE facility. Two γ rays depopulating low-lying states in 206Hg were observed. From the data, a reduced transition strength B(E2; 2+1 → 0+1) = 4.4(6) W.u. was determined, the first such value for an N=126 nucleus south of 208Pb, whi

K2-264 : A transiting multiplanet system in the Praesepe open cluster

Planet host stars with well-constrained ages provide a rare window to the time domain of planet formation and evolution. The NASA K2 mission has enabled the discovery of the vast majority of known planets transiting stars in clusters, providing a valuable sample of planets with known ages and radii. We present the discovery of two planets transiting K2-264, an M2 dwarf in the intermediate age (600

Impact of era of diagnosis on cause-specific late mortality among 77 423 five-year European survivors of childhood and adolescent cancer : The PanCareSurFup consortium

Late mortality of European 5-year survivors of childhood or adolescent cancer has dropped over the last 60 years, but excess mortality persists. There is little information concerning secular trends in cause-specific mortality among older European survivors. PanCareSurFup pooled data from 12 cancer registries and clinics in 11 European countries from 77 423 five-year survivors of cancer diagnosed

On the generalizability of diffusion MRI signal representations across acquisition parameters, sequences and tissue types : Chronicles of the MEMENTO challenge

Diffusion MRI (dMRI) has become an invaluable tool to assess the microstructural organization of brain tissue. Depending on the specific acquisition settings, the dMRI signal encodes specific properties of the underlying diffusion process. In the last two decades, several signal representations have been proposed to fit the dMRI signal and decode such properties. Most methods, however, are tested

Biomarker-based prognosis for people with mild cognitive impairment (ABIDE) : a modelling study

Background: Biomarker-based risk predictions of dementia in people with mild cognitive impairment are highly relevant for care planning and to select patients for treatment when disease-modifying drugs become available. We aimed to establish robust prediction models of disease progression in people at risk of dementia. Methods: In this modelling study, we included people with mild cognitive impair

Systemic sclerosis and primary biliary cholangitis : Longitudinal data to determine the outcomes

Background: Several studies described the cross-sectional characteristics of systemic sclerosis patients and coexisting primary biliary cholangitis, but longitudinal prognostic data are lacking. Aims: To describe the systemic sclerosis–primary biliary cholangitis phenotype, including baseline characteristics and outcomes. Methods: We performed a multicentre the European Scleroderma Trials and Rese

Past decade above-ground biomass change comparisons from four multi-temporal global maps

Above-ground biomass (AGB) is considered an essential climate variable that underpins our knowledge and information about the role of forests in mitigating climate change. The availability of satellite-based AGB and AGB change (ΔAGB) products has increased in recent years. Here we assessed the past decade net ΔAGB derived from four recent global multi-date AGB maps: ESA-CCI maps, WRI-Flux model, J

Deliverable of Work Package 7: : Common Strategic Research and Innovation Agenda

Identification of opportunities and challenges for the development of a more sustainable animal production (“research and innovation needs”) and critical research capacity that needs to be maintained or newly established (“research funding collaboration”).Chapter A is setting the scene, introducing livestock production in Europe and the scope of this research agenda.Chapter B and annex 2 describe

Effects of the DICE Method to Improve Timely Recognition and Treatment of Neuropsychiatric Symptoms in Early Alzheimer's Disease at the Memory Clinic : The BEAT-IT Study

Background: Neuropsychiatric symptoms (NPS) are highly prevalent in Alzheimer's disease (AD) and are associated with negative outcomes. However, NPS are currently underrecognized at the memory clinic and non-pharmacological interventions are scarcely implemented. Objective: To evaluate the effectiveness of the Describe, Investigate, Create, Evaluate (DICE) method™ to improve the care for NPS in AD

International differences in the selection and outcome of minimally invasive and open distal pancreatectomy : A transatlantic analysis

BACKGROUND: The efficacy and safety of minimally invasive distal pancreatectomy have been confirmed by randomized trials, but current patient selection and outcome of minimally invasive distal pancreatectomy in large international cohorts is unknown. This study aimed to compare the use and outcome of minimally invasive distal pancreatectomy in North America, the Netherlands, Germany, and Sweden.ME

Child-to-adult transition : a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)

Background: Transition from child-centered to adult-centered healthcare is a gradual process that addresses the medical, psychological, and educational needs of young people in the management of their autonomy in making decisions about their health and their future clinical assistance. This transfer is challenging across all chronic diseases but can be particularly arduous in rare neurological con

Clinical application of flow cytometry in patients with unexplained cytopenia and suspected myelodysplastic syndrome : A report of the European LeukemiaNet International MDS-Flow Cytometry Working Group

This article discusses the rationale for inclusion of flow cytometry (FCM) in the diagnostic investigation and evaluation of cytopenias of uncertain origin and suspected myelodysplastic syndromes (MDS) by the European LeukemiaNet international MDS Flow Working Group (ELN iMDS Flow WG). The WHO 2016 classification recognizes that FCM contributes to the diagnosis of MDS and may be useful for prognos

Synthesis of highbush blueberry pollination research reveals region-specific differences in the contributions of honeybees and wild bees

Highbush blueberry production has expanded worldwide in recent decades. To safeguard future yields, it is essential to understand if insect pollination is limiting current blueberry production and which insects contribute to pollination in different production regions. We present a systematic review including a set of meta-analyses on insect-mediated pollination in highbush blueberry. We summarize