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BACKGROUND: Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and minor clinical diagnostic criteria and assessed in clinical routine workup. However, case studies point towards the existence of rare disease manifestations and to the potential as

Greater central artery stiffness is observed in people with type 2 diabetes (T2DM). Elevated blood pressure (BP) and altered arterial wall structure/composition in T2DM are generally considered as main drivers for this alteration. However, because conventional arterial stiffness measures are BP-dependent and as such an influence of BP remains in a measure, it is unclear if greater central artery s

Background: Early cartilage changes in knee osteoarthritis (OA) can be assessed by both intravenous (i.v.) and intra-articular (i.a.) delayed gadolinium-enhanced MRI of cartilage (dGEMRIC). Purpose: To examine the relationship between i.a. dGEMRIC and delayed gadolinium-enhanced MRI of menisci (dGEMRIM), and to investigate if the approach can be used to assess the morphological degeneration of men

Anaplastic thyroid cancer (ATC) is a rare and highly aggressive thyroid malignancy, usually resistant to conventional therapeutic strategies. The prognosis of ATC is extremely poor with a median survival rate of 6 months. Current treatment therapy includes surgical resection in combination with external radiotherapy and chemotherapy. The underlying mechanisms involved in ATC tumorigenesis is under

The sharing economy is an emerging niche for innovation capable of disrupting established socio-technical and economic regimes. Because of this potential to cause radical changes in a wide array of domains, research in multiple disciplines addressing various aspects entailing this phenomenon is proliferating. In this emerging body of literature, the understanding and framing of the sharing economy

Background: To determine characteristics that might affect survival times in Alzheimer’s disease (AD) patients treated with cholinesterase inhibitors (ChEI) in clinical practice, and create statistical models of estimated life-span after AD diagnosis. Method: The Swedish Alzheimer Treatment Study (SATS) is a prospective, observational, multicenter study to evaluate the use of long-term ChEI therap

Aims/hypothesis: Type 1 and type 2 diabetes differ with respect to pathophysiological factors such as beta cell function, insulin resistance and phenotypic appearance, but there may be overlap between the two forms of diabetes. However, there are relatively few prospective studies that have characterised the relationship between autoimmunity and incident diabetes. We investigated associations of a

BACKGROUND: Multiparametric magnetic resonance imaging (MRI), with or without targeted biopsy, is an alternative to standard transrectal ultrasonography-guided biopsy for prostate-cancer detection in men with a raised prostate-specific antigen level who have not undergone biopsy. However, comparative evidence is limited. METHODS: In a multicenter, randomized, noninferiority trial, we assigned men

BACKGROUND: Teachers are at high risk of stress-related disorders. This longitudinal study aimed to (a) identify which occupational, sociodemographic and life-style factors and self-efficacy at baseline that were of importance for burnout, (b) explore associations between changes in the studied factors versus changes in burnout, and (c) by interviews increase the understanding of perceived job dem

Background and Purpose- Psychosocial factors can have implications for ischemic stroke risk and recovery. This study investigated the effect of genetically determined risk of depression on these outcomes using the Mendelian randomization (MR) framework. Methods- Genetic instruments for risk of depression were identified in a discovery genome-wide association study of 246 363 cases and 561 190 cont

BACKGROUND: Cardiovascular magnetic resonance (CMR) can be used to measure left ventricular end-diastolic volume (LVEDV) and left ventricular mass (LVM). However, there is currently no good way to measure the normality of LVM in relation to a given LVEDV. We hypothesized that a simple measure of left ventricular global wall thickness (GWT) would be accurate, beneficial for detecting and characteri

Background: Resting metabolic rate (RMR) has been examined as a proxy for low energy availability (EA). Previous studies have been limited to adult athletes, despite the serious health consequences of low EA, particularly during adolescence. This study aimed to explore the relationship between RMR and EA in competitive teenage girl runners. Methods: Eighteen girl runners (mean ± standard-deviation

Objective: Rathke's cleft cysts are benign, embryological remnants in the pituitary gland. The majority of them are small and asymptomatic but a few may become large, and cause mass effects, pituitary hormone deficiencies and visual impairment. Recommendations for the follow-up of Rathke's cleft cysts vary since data on the natural history are sparse. Patients and Design: Data at diagnosis and at

Background: Acute lower limb ischaemia (ALI) is a life and limb threatening vascular emergency. Acute compartment syndrome (ACS) may develop upon revascularization. The risk of fasciotomy was hypothesized to be decreased in women due to their lower calf muscle mass. The main aim was to evaluate risk factors for fasciotomy after revascularization for ALI. Methods: This is a retrospective observatio

Background: It has been shown that individuals with obesity have a higher risk for chronic kidney disease (CKD). However, it is unclear which measure of obesity is most useful for prediction of CKD in the general population. The aim of this large prospective study was to explore the association between several anthropometric measures of obesity, i. e., body mass index (BMI), waist circumference (W

Objective To compare the Danish Emergency Process Triage (DEPT) with a quick clinical assessment (Eyeball triage) as predictors of short-term mortality in patients in the emergency department (ED).Methods The investigation was designed as a prospective cohort study conducted at North Zealand University Hospital. All patient visits to the ED from September 2013 to December 2013 except minor injurie

PURPOSE To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these risks have not been extensively characterized. METHODS We analyzed data from 524 families with PALB2 PVs from 21 countries. Complex segregation analysis

Background: Wasting is a common complication of kidney failure that leads to weight loss and poor outcomes. Recent experimental data identified parathyroid hormone (PTH) as a driver of adipose tissue browning and wasting, but little is known about the relations among secondary hyperparathyroidism, weight loss, and risk of mortality in dialysis patients. Methods: We included 42,319 chronic in-centr

BACKGROUND AND PURPOSE: To date, large studies comparing mortality and functional outcome of intracerebral hemorrhage (ICH) during oral anticoagulant (OAC), antiplatelet, and nonantithrombotic use are few and show discrepant results. METHODS: We used data on 13 291 patients with ICH registered in Riksstroke between 2012 and 2016 to compare 90-day mortality and functional outcome following OAC-rela

BACKGROUND: Opioids are still widely prescribed to long-term pain patients although they are no longer recommended for long-term treatments due to poor evidence for long-term efficacy, risks of serious side effects, and the possibility of inducing opioid hyperalgesia. In a Cochrane study from 2017, the authors identified an urgent need for more randomized controlled trials investigating the effici