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The genetic landscape of paediatric de novo acute myeloid leukaemia as defined by single nucleotide polymorphism array and exon sequencing of 100 candidate genes

Cytogenetic analyses of a consecutive series of 67 paediatric (median age 8 years; range 0-17) de novo acute myeloid leukaemia (AML) patients revealed aberrations in 55 (82%) cases. The most common subgroups were KMT2A rearrangement (29%), normal karyotype (15%), RUNX1-RUNX1T1 (10%), deletions of 5q, 7q and/or 17p (9%), myeloid leukaemia associated with Down syndrome (7%), PML-RARA (7%) and CBFB-M

Is it safe to withhold long-term anticoagulation therapy in patients with small pulmonary emboli diagnosed by SPECT scintigraphy?

Background: The need for anticoagulation therapy (AC) in patients with subsegmental pulmonary embolism (SSPE) diagnosed by computed tomography of the pulmonary arteries (CTPA) has been questioned, as these patients run low risk for recurrent venous thromboembolism (VTE) during 3 months of follow-up. Whether this applies also to patients with small PE diagnosed with pulmonary scintigraphy has not y

Smoking is associated with several functional gastrointestinal symptoms

Background: The etiology behind functional gastrointestinal symptoms is not clear. Only a few studies have examined how lifestyle factors affect these symptoms, especially in middle-aged or elder subjects. The aim of the present study was to describe the prevalence of functional gastrointestinal symptoms in a Swedish population-based cohort of middle-aged to elder subjects, and to examine associat

Social/economic costs and health-related quality of life of mucopolysaccharidosis patients and their caregivers in Europe

Objectives: To assess the health-related quality of life (HRQOL) of patients with mucopolysaccharidosis (MPS) and their caregivers and to quantify the disease-related costs from a societal perspective. Methods: In the context of a multi-country study of rare diseases (BURQOL-RD project), a cross-sectional survey was performed among MPS patients in seven European countries. Data on demographic char

Increased inhibitor incidence in severe haemophilia A since 1990 attributable to more low titre inhibitors

Many studies have reported an increased incidence of inhibitors in previously untreated patients (PUPs) with severe haemophilia A after the introduction of recombinant products. It was the objective of this study to investigate whether the inhibitor incidence has increased between 1990 and 2009 in an unselected cohort of PUPs with severe haemophilia A (FVIII<1 %). Patients were consecutively recru

Impact of thrombus aspiration during ST-Elevation Myocardial Infarction : a six month composite endpoint and risk of stroke analyses of the TASTE trial

BACKGROUND: Routine thrombus aspiration during primary percutaneous coronary intervention (PCI) in ST-elevation myocardial infarction (STEMI) did not reduce the primary composite endpoint in the "A Randomised Trial of Routine Aspiration ThrOmbecTomy With PCI Versus PCI ALone in Patients With STEMI Undergoing Primary PCI" (TOTAL) trial. We aimed to analyse a similar endpoint in "The Thrombus Aspira

Biosynthesis of O-linked oligosaccharides on proteoglycans by chondrocytes from the swarm rat chondrosarcoma

The core protein of proteoglycans from cartilage is substituted with glycosaminoglycans as well as N- and O-glycosidically linked oligosaccharides. We have taken advantage of the long intracellular half-life of the core protein precursor to the rat chondrosarcma proteoglycan to study the temporal relationship between the addition of the chondroitin sulfate chains and the O-linked oligosaccharides

Atrial fibrillation patients with CHA2DS2-VASc > 1 benefit from oral anticoagulation prior to cardioversion

Background Electrical cardioversion of atrial fibrillation is associated with an increased risk of embolic stroke, but is generally considered safe if performed within 48 h after onset. Our objective was to investigate if thromboembolism and bleeding in association with cardioversion of atrial fibrillation differed between patients with and without oral anticoagulation. Methods Retrospective study

Organized Small-scale Self-help Housing

There is a shortage of adequate, affordable shelter all over the world. Many households have shelter, but of unacceptable quality with respect to crowdedness, hygienic standard, indoor comfort, safety, security of land tenure, neighbourhood environment. Other families cannot afford their own shelter, but live with relatives or friends under very temporary conditions. Those who cannot afford the ho

Neurosurgical intervention in ultra-severe closed traumatic brain injury : Is it worth the effort?

Introduction: A subgroup of severe Traumatic Brain Injury (TBI) patients, known as ultra-severe (us-TBI), is most commonly defined as a post-resuscitation Glasgow Coma Scale (GCS) of 3–5. There is uncertainty on whether these critically injured patients can benefit from neurosurgical intervention. Research question: The available evidence regarding the decision-making and outcome following managem

Symptomatic osteonecrosis in children treated for Hodgkin lymphoma : A population-based study in Sweden, Finland, and Denmark

Background: Osteonecrosis (ON) is a potentially disabling skeletal complication of cancer treatment. Although symptomatic osteonecrosis (sON) is well-known in acute lymphoblastic leukemia (ALL), with an incidence around 6%, studies on sON in pediatric Hodgkin lymphoma (HL) are scarce. The aim of this study was to examine the incidence, risk factors, and outcome of sON in children treated for HL. P

Quantitative brain stem assessment in discriminating neurodegenerative disorders from normal pressure hydrocephalus

Background and Purpose: Differentiating idiopathic normal pressure hydrocephalus (iNPH) from neurodegenerative disorders such as progressive supranuclear palsy (PSP), Multiple System Atrophy—parkinsonian type (MSA-P), and vascular dementia (VaD) is challenging due to overlapping clinical and neuroimaging findings. This study assesses if quantitative brain stem and cerebellum metrics can aid in thi

Nucleotide binding to the ATP-cone in anaerobic ribonucleotide reductases allosterically regulates activity by modulating substrate binding

A small, nucleotide-binding domain, the ATP-cone, is found at the N-terminus of most ribonucleotide reductase (RNR) catalytic subunits. By binding adenosine triphosphate (ATP) or deoxyadenosine triphosphate (dATP) it regulates the enzyme activity of all classes of RNR. Functional and structural work on aerobic RNRs has revealed a plethora of ways in which dATP inhibits activity by inducing oligome

A randomised trial of selective intracoronary hypothermia during primary PCI

BACKGROUND: While experimental data suggest that selective intracoronary hypothermia decreases infarct size, studies in patients with ST-elevation myocardial infarction (STEMI) are lacking. AIMS: We investigated the efficacy of selective intracoronary hypothermia during primary percutaneous coronary intervention (PCI) to decrease infarct size in patients with STEMI. METHODS: In this multicentre ra

Obesity and its association with self-efficacy and metabolic risk factors by region of birth among 40-year-olds participating in the Swedish targeted health dialogues

Objective: Targeted Health Dialogues (THD) is a public health intervention program that aims at preventing cardiovascular disease. THDs were implemented in the Swedish region Scania, in 2020, with the novelty of being conducted in a metropolitan area with a multiethnic population. This study investigated the prevalence of obesity among 40-year-old THD participants in Scania by region of birth, and

Basic Body Awareness Therapy for young adults with autism : - a pragmatic randomized controlled trial

Background: Young adults with autism often have problems with body awareness, also acknowledged by physiotherapists. This may interfere with various physiological and psychological responses, expressed in reduced movement quality. Basic Body Awareness Therapy (BBAT) may be suitable to address these difficulties, to enhance body awareness and movement quality to manage everyday life. Body Awareness

STEMI, Revascularization, and Peak Troponin by Adverse Pregnancy Outcomes in Women With Myocardial Infarction

BACKGROUND: Women with a history of adverse pregnancy outcomes have a higher risk of coronary heart disease. Emerging evidence suggests that women with a history of preeclampsia have a different pattern of overall coronary atherosclerosis and that they at the time of myocardial infarction (MI) more frequently present with ST-segment elevation MI (STEMI) compared to women with no such history.OBJEC