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Several monogenic causes of familial myelodysplastic syndrome (MDS) have recently been identified. We studied two families with cytopenia, predisposition to MDS with chromosome 7 aberrations, immunodeficiency, and progressive cerebellar dysfunction. Genetic studies uncovered heterozygous missense mutations in SAMD9L, a tumor suppressor gene located on chromosome arm 7q. Consistent with a gain-of-f

Purpose - The dimple is adopted into a double wall cooling structure which is widely used in hot gas components to increase the heat transfer effects with relatively low pressure drop penalty. The purpose of this paper is to study the effect of dimple depth and dimple diameter on the target surface heat transfer and the inlet to outlet friction factor. Design/methodology/approach - The study is ca

Understanding the molecular mechanisms of osteoarthritis (OA) is critical for early diagnosis and effective treatment. OA is a leading cause of disability and poses an increasing burden on healthcare systems, particularly with an aging global population. Despite the potential of proteomics to elucidate the complex biology underlying OA, its application remains limited due to challenges including g

Sustainably produced renewable biomass has the potential to replace fossil-based feedstocks, for generation of biobased fuels and chemicals of industrial interest, in biorefineries. In this context, seaweeds contain a large fraction of carbohydrates that are a promising source for enzymatic and/or microbial biorefinery conversions. The thermoanaerobe Thermoanaerobacterium AK17 is a versatile ferme

INTRODUCTION: Patient simulation can be useful for medical students in developing communication skills for vulnerable situations. Three participants are primarily involved in the patient simulation activities: the student, the simulated patient (SP), and the teacher. We here aimed to explore these participants' perceptions of learning in a patient simulation scenario.METHODS: We conducted individu

Soot, or black carbon (BC), aerosol is a major climate forcer with severe health effects. The impacts depend strongly on particle number concentration, size and mixing state. This work reports on two field campaigns at nearby urban and rural sites, 65gkm apart, in southern Sweden during late summer 2018. BC was measured using a single-particle soot photometer (SP2) and Aethalometers (AE33). Differ

INTRODUCTION: Monocytes are key effector cells in inflammatory processes. We and others have previously shown that synovial monocytes in childhood-onset arthritis are activated. However, very little is known about how they contribute to disease and attain their pathological features. Therefore, we set out to investigate the functional alterations of synovial monocytes in childhood-onset arthritis,

INTRODUCTION: The incidence of pancreatic cancer is around 5 in 100,000, and the 5-year survival is poor. Pancreatic cancer patients have a high disease-specific burden of symptoms, and palliative chemotherapy has varying side effects. The American Society of Clinical Oncology (ASCO) suggests integrating specialized palliative care (SPC) with standard oncological treatment for pancreatic cancer pa

Resting heart rate is associated with cardiovascular diseases and mortality in observational and Mendelian randomization studies. The aims of this study are to extend the number of resting heart rate associated genetic variants and to obtain further insights in resting heart rate biology and its clinical consequences. A genome-wide meta-analysis of 100 studies in up to 835,465 individuals reveals

This article discusses an important panel held at ICIS 2011 in Shanghai to mark over thirty years of an ICIS institution, the ICIS Women's Breakfast. The panel addressed the controversial question-is there still a need for the ICIS Women's Breakfast? Panelists were asked if the ICIS Women's Breakfast could be seen as divisive, and if women's issues are different from issues of diversity such as ra

Background Effective cooperation between B-cells and T-cells within the tumor microenvironment may lead to the regression of established tumors. B-cells and T-cells can recognize tumor antigens with exquisite specificity via their receptor complexes. Nevertheless, whether a diverse intratumoral B-cells and T-cell receptor (BCR, TCR) repertoire affects the tumor immune microenvironment (TIME) and c

Background: In the strive towards a circular economy, metal waste recycling is a growing industry. During the recycling process, particulate matter containing toxic and allergenic metals will be emitted to the air causing unintentional exposure to humans and environment. Objective: In this study detailed characterization of particle emissions and workplace exposures were performed, covering the fu

In an explorative manner, this article uses a data-driven digital history set-up to focus on how the Swedish Riksdag, its political parties and parliament members discussed media issues. By distant reading and topic modeling a dataset of more than 11,000 parliamentary minutes – approximately 400 million characters – the article gives a new perspective of Swedish media history in general and nation

Background: MRI is an important tool in the prostate cancer work-up, with special emphasis on the ADC sequence. This study aimed to investigate the correlation between ADC and ADC ratio compared to tumor aggressiveness determined by a histopathological examination after radical prostatectomy.Methods: Ninety-eight patients with prostate cancer underwent MRI at five different hospitals prior to radi