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A somatic mutation in moesin drives progression into acute myeloid leukemia

Acute myeloid leukemia (AML) arises when leukemia-initiating cells, defined by a primary genetic lesion, acquire subsequent molecular changes whose cumulative effects bypass tumor suppression. The changes that underlie AML pathogenesis not only provide insights into the biology of transformation but also reveal novel therapeutic opportunities. However, backtracking these events in transformed huma

HERFD-XANES probes of electronic structures of ironII/IIIcarbene complexes

Iron centeredN-heterocyclic carbene (Fe-NHC) complexes have shown long-lived excited states with charge transfer character useful for light harvesting applications. Understanding the nature of the metal-ligand bond is of fundamental importance to rationally tailor the properties of transition metal complexes. The high-energy-resolution fluorescence detected X-ray absorption near edge structure (HE

Novel Insights into the Multiple Sclerosis Risk Gene ANKRD55

An intronic variant in ANKRD55, rs6859219, is a genetic risk factor for multiple sclerosis, but the biological reasons underlying this association are unknown. We characterized the expression of ANKRD55 in human PBMCs and cell lines. Three ANKRD55 transcript variants (Ensembl isoforms 001, 005, and 007) could be detected in PBMCs and CD4(+) T cells but were virtually absent in CD8(+), CD14(+), CD1

Analysis of the IL28RA locus as genetic risk factor for multiple sclerosis

Recently, we reported an association between a SNP in IL28RA and MS. Here, we performed a fine-mapping of the IL28RA locus by genotyping 10 haplotype-tagging SNPs in a Basque-Spanish population. In addition, based on shared genetic risk loci between autoimmune diseases, a psoriasis-associated SNP located at this locus, rs4649203, was genotyped in four independent populations, comprising a total of

Serum aromatic and branched-chain amino acids associated with NASH demonstrate divergent associations with serum lipids

Background & Aims: Non-alcoholic fatty liver disease (NAFLD) has been associated with multiple metabolic abnormalities. By applying a non-targeted metabolomics approach, we aimed at investigating whether serum metabolite profile that associates with NAFLD would differ in its association with NAFLD-related metabolic risk factors. Methods & Results: A total of 233 subjects (mean ± SD: 48.3 ±

Clinical and biological impact of SAMHD1 expression in mantle cell lymphoma

SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase (dNTPase) that restricts viral replication in infected cells and limits the sensitivity to cytarabine by hydrolysing its active metabolite, as recently shown in acute myeloid leukemia. Cytarabine is an essential component in the Nordic mantle cell lymphoma protocols (MCL2 and MCL3) for induction and high-dose chemotherapy treatment befor

Studying the innate immune response to myocardial infarction in a highly efficient experimental animal model

The reduction in mortality following acute myocardial infarction (AMI) is an important achievement of modern medicine. Despite this progress, AMI remains the most common cause of heart failure (HF) and HF-related morbidity and mortality. The involvement of the innate immune response in different stages after AMI has attracted important attention in recent years. With the increasing range of potent

Gas Pulse-X-Ray Probe Ambient Pressure Photoelectron Spectroscopy with Submillisecond Time Resolution

A setup capable of conducting gas pulse-X-ray probe ambient pressure photoelectron spectroscopy with high time resolution is presented. The setup makes use of a fast valve that creates gas pulses with an internal pressure in the mbar range and a rising edge of few hundreds of microseconds. A gated detector based on a fast camera is synchronized with the valve operation to measure X-ray photoemissi

Novel approaches in cardiac imaging for non-invasive assessment of left heart myocardial fibrosis

In the past, the identification of myocardial fibrosis was only possible through invasive histologic assessment. Although endomyocardial biopsy remains the gold standard, recent advances in cardiac imaging techniques have enabled non-invasive tissue characterization of the myocardium, which has also provided valuable insights into specific disease processes. The diagnostic accuracy, incremental yi

Quantifying Phagocytosis – studies on the antibody response during invasive streptococcal infections

The interaction between our immune system and pathogens encompasses a complex spectrum from symbiosis to potentially life-threatening diseases. Throughout evolution, our immune system has evolved numerous strategies such as phagocytosis to combat infections and protect us from diseases. Phagocytosis involves the engulfment of pathogens by our immune cells and can be facilitated through opsonizatio

Comorbidities in childhood atopic dermatitis : A population-based study

Background: Atopic dermatitis (AD) is a chronic inflammatory skin disease that is associated with allergic comorbidities. However, studies examining comorbidities in childhood AD are incomplete, which may contribute to suboptimal care. Objective: The objective was to compare the risk of developing different allergic and non-allergic comorbidities among children with AD to that of a matched non-AD

Genetic determinants and clinical significance of circulating and tumor-specific levels of insulin-like growth factor binding protein 7 (IGFBP7) in a Swedish breast cancer cohort

Previous research indicates that insulin-like growth factor binding protein 7 (IGFBP7) protein levels in breast cancer tissue and blood are prognostic. However, genetic determinants of IGFBP7 in breast cancer remain largely unexplored. We examined IGFBP7 in a cohort of 1701 patients with a first breast cancer from Sweden, enrolled prior to surgery 2002-2016 and followed for up to 15 years. Genotyp

Towards a framework to support large scale sampling in software engineering surveys

Context: The low quality and small size of samples in empirical studies in software engineering hamper the interpretation and generalization of their results. Therefore, enlarging sample sizes and improving their quality represent an important research challenge. Goal: We aim to define a conceptual framework, including requirements for establishing adequate sources for sampling subjects in softwar

Massive star cluster formation and evolution in tidal dwarf galaxies

Context. The formation of globular clusters remains an open debate. Dwarf starburst galaxies are efficient at forming young massive clusters with similar masses as globular clusters and may hold the key to understanding their formation. Aims. We study star cluster formation in a tidal debris, including the vicinity of three tidal dwarf galaxies, in a massive gas-dominated collisional ring around N

Validation of Patient Identification Algorithms for Atopic Dermatitis Using Healthcare Databases

Introduction: The use of real-world data offers a possibility to perform large-scale epidemiological studies in actual clinical settings. Despite their many advantages, administrative databases were not designed to be used in research, and the validation of diagnoses and treatments in administrative databases is needed. The primary objective of this study was to validate an existing algorithm base

Allergic and hypersensitivity conditions in non-specialist care : Flow diagrams to support clinical practice

Most patients presenting with allergies are first seen by primary care health professionals. The perceived knowledge gaps and educational needs were recently assessed in response to which the LOGOGRAM Task Force was established with the remit of constructing pragmatic flow diagrams for common allergic conditions in line with an earlier EAACI proposal to develop simplified pathways for the diagnosi

Short-term outcome in patients treated with cytoreduction and HIPEC compared to conventional colon cancer surgery

Cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) is an extensive procedure with considerable morbidity. Since only few hospitals perform CRS + HIPEC, this might lead to confounded outcomes between hospitals when audited. This study aims to compare outcomes between peritoneally metastasized (PM) colon cancer patients treated with CRS + HIPEC and patients undergoing

Nanoplastics in aquatic environments—Sources, sampling techniques, and identification methods

Since the industrial revolution, humans have extensively been contributing to the accumulation of rubble in marine and freshwater ecosystems. Because the buildup of trash in water bodies was previously considered miniscule owing to its capacity to drift away from vantage points, the growing impact of plastic pollutants has historically been neglected. Today, however, pollution of aquatic systems i

Neural and behavioral correlates of episodic memory are associated with temporal discounting in older adults

When facing decisions involving trade-offs between smaller, sooner and larger, delayed rewards, people tend to discount the value of future rewards. There are substantial individual differences in this tendency toward temporal discounting, however. One neurocognitive system that may underlie these individual differences is episodic memory, given the overlap in the neural circuitry involved in imag