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Germline SAMD9 and SAMD9L mutations (SAMD9/9Lmut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9Lmut accounted f

The second most common neurodegenerative disease, Parkinson’s disease, is linked with an amyloid forming protein, alpha-synuclein. Hallmarks of Parkinson’s disease are progressive loss of dopaminergic neurons and accumulation of intraneuronal inclusions termed Lewy bodies. Major components of Lewy bodies are amyloid fibrils formed by alpha-synuclein and various lipids and cell organelles. In this

Objective: The aim was to describe the microbiology of surgically treated infective native (mycotic) aortic aneurysms (INAAs), and associated survival and development of infection-related complications (IRCs). Methods: Data were pooled from 2 nationwide studies on surgically treated patients with INAAs in Sweden, between 1994 – 2016. Patients were grouped and analyzed according to culture results:

Background: While cognitive-behavioral therapy (CBT) is the gold-standard psychological treatment for major depression (MD), non-response and lacking stability of treatment gains are persistent issues. Potential factors influencing treatment outcome might be lifetime trauma history and possibly associated primarily prefrontal-cortex- and hippocampus-dependent cognitive alterations. Method: We inve

Expert-led multicriteria methodologies might have significant improvements in terms of relevance and effectiveness when citizen participation is integrated. This inclusion is especially influential regarding urban revitalization projects (URPs) prioritization, which directly affects the conservation of cultural heritage. The objective is to apply an existing multicriteria methodology for URPs’ pri

The two-dimensional (2D) affinity between protein molecules across contacting cells is a key parameter regulating and initiating several cellular processes. However, measuring 2D affinity can be challenging, and experimental data are limited. In addition, the obtained 2D affinities are typically averaged over the cell population. We here present a method to measure 2D affinity on single cells bind

Acta Radiologica celebrates its 100th anniversary in 2021. In this article, the foundation of the journal and its editors are described. During 100 years, the manuscript structure changed from single-author verbose monographs to multi-author collaborations on statistically analyzed research subjects. The authorship changed from purely Nordic authors to a truly international cadre of authors, and t

Aims/hypothesis: Data analyses from Swedish individuals with newly diagnosed diabetes have suggested that diabetes could be classified into five subtypes that differ with respect to the progression of dysglycaemia and the incidence of diabetes consequences. We assessed this classification in a multiethnic cohort of participants with established and newly diagnosed diabetes, randomly allocated to i

Brain-body static allometry, which is the relationship between brain size and body size within species, is thought to reflect developmental and genetic constraints. Existing evidence suggests that the evolution of large brain size without accompanying changes in body size (that is, encephalization) may occur when this constraint is relaxed. Teleost fish species are generally characterized by havin

I here discuss two problems facing act-type theories of propositions, and argue that Fregean act-type theories are better equipped to deal with them than Russellian ones. The first relates to complex singular terms like '2+2', which turn out not to pose any special problem for Fregeans at all, whereas Soames' Russellian theory currently has no satisfactory way of dealing with them (particularly, w

Repetitive iodinated contrast media exposure may be harmful for the kidneys. The aim of the present study was to evaluate if patients with diabetes mellitus (DM) undergoing CT angiography (CTA) and local continuous thrombolysis for acute lower limb ischemia (ALI) had an increased risk of developing contrast-associated acute kidney injury (CA-AKI) compared to patients without DM. Methods: This is a

SPRINT (Systolic Blood Pressure Intervention Trial) showed that intensive lowering of systolic blood pressure to <120 mm Hg was beneficial, as compared with standard treatment in which systolic blood pressure is lowered to <140 mm Hg. The proposal that the results of SPRINT were mainly driven by the reduction of heart failure events has undermined the main conclusion of the study. Therefore, this

Objectives: The current study aimed to examine the mechanisms of change that mediate the impact of a compassionate mind training (CMT) intervention, in particular, whether changes in compassion, fears of compassion and heart rate variability (HRV) would mediate the effects of a brief CMT intervention on psychological vulnerability factors, mental health indicators and positive affect. Methods: Usi

There has been an increased interest in the study of emotional demands (ED) at work and its impact on workers’ well-being. However, ED have been conceptualized as a unitary concept, focused on interactions with clients, and excluding other potential sources of ED at work. Therefore, the aim of the current study is to explore the relation between ED from different relational sources (clients/patien

Job stress and burnout are highly prevalent in healthcare professionals, and nurses in particular. Given its deleterious consequences not only for professionals’ well-being but also for patients and organizations, it is important to have adequate measures to assess professional quality of life. This study aimed to offer a contribution for the Portuguese validation of the Professional Quality of Li

There has been an increased interest in the study of underlying autonomic correlates of emotions. This study tests the hypothesis that high levels of high-frequency heart rate variability (HF HRV) are associated with positive emotions. In addition, we hypothesize that this association will differ according to the type of positive emotion. Also, based on recent findings, we tested the hypothesis th

Purpose This study explored the role of several psychological factors in professional quality of life in nurses. Specifically, we tried to clarify the relationships between several dimensions of empathy, self-compassion, and psychological inflexibility, and positive (compassion satisfaction) and negative (burnout and compassion fatigue) domains of professional quality of life. Methods Using a cros

Objectives Mindfulness-based interventions (MBIs) have received large empirical support for their efficacy. In comparison, few studies have explored the underlying mechanisms and processes through which MBIs impact outcomes. This study aimed to explore the potential role of trait mindfulness, self-compassion and psychological inflexibility as mediators of the effects of a MBI on burnout, compassio