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Background and Purpose- We sought to explore the effect of genetic imbalance on functional outcome after ischemic stroke (IS). Methods- Copy number variation was identified in high-density single-nucleotide polymorphism microarray data of IS patients from the CADISP (Cervical Artery Dissection and Ischemic Stroke Patients) and SiGN (Stroke Genetics Network)/GISCOME (Genetics of Ischaemic Stroke Fu
Background: Adults with complex congenital heart disease (CHD) have reduced aerobic capacity and impaired muscle function. We therefore hypothesized that patients have a lower skeletal muscle mass and higher fat mass than controls. Methods: Body composition was examined with full body Dual-Energy x-ray Absorptiometry (DXA) in 73 patients with complex CHD (mean age 35.8 ± 14.3, women n = 22) and 73
Objective: Genome-wide association studies (GWAS) have been successful at identifying associations with stroke and stroke subtypes, but have not yet identified any associations solely with small vessel stroke (SVS). SVS comprises one quarter of all ischemic stroke and is a major manifestation of cerebral small vessel disease, the primary cause of vascular cognitive impairment. Studies across neuro
Background: Untreated celiac disease (CD) patients have increased levels of blood glutamine and a lower duodenal expression of glutaminase (GLS). Intestinal gluconeogenesis (IGN) is a process through which glutamine is turned into glucose in the small intestine, for which GLS is crucial. Animal studies suggest impaired IGN may have long-term effects on metabolic control and be associated with the
Monoglyceride lipase (MGL) hydrolyzes monoacylglycerols (MG) to glycerol and one fatty acid. Among the various MG species, MGL also degrades 2-arachidonoylglycerol, the most abundant endocannabinoid and potent activator of the cannabinoid receptors 1 and 2. We investigated the consequences of MGL deficiency on platelet function using systemic (Mgl-/-) and platelet-specific Mgl-deficient (platMgl-/
AIM: To investigate the need, in the Northern European setting, to perform kidney biopsy in children with steroid-sensitive nephrotic syndrome.METHODS: In this retrospective study 124 individuals aged 1-18 years with idiopathic nephrotic syndrome, followed in the paediatric hospitals in southern Sweden from 1999 to 2018, were included.RESULTS: There was a median follow-up time of 6.5 (0.2-16.8) ye
Objective: Chronic renal disease other than scleroderma renal crisis (SRC) is not well documented in systemic sclerosis (SSc). We examined the occurrence of decreased glomerular filtration rate (GFR) in a large consecutive SSc cohort and analysed whether it was related to SSc or could be related to other causes. Methods: During 1983-2004 GFR was measured by chromium-51-ethylenediaminetetraacetic a
Few studies have assessed pain in neuropathic and neuroischaemic foot ulcers. This pilot study found that patients with these ulcers do experience pain, and that the intensity and nature of the pain was similar in both types of ulcer.
BackgroundCystic fibrosis (CF) is a genetic disorder characterized by chronic airway inflammation and lung function decline. CF-related diabetes (CFRD) is the main extrapulmonary complication and it is tightly linked to an impaired lung function, but the underlying mechanisms behind these observations are incompletely understood. In the present study, we aimed to compare airway microbiome composit
BACKGROUND: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder leading to progressive motor, cognitive and functional decline. Antidopaminergic medications (ADMs) are frequently used to treat chorea and behavioural disturbances in HD.OBJECTIVE: We aimed to assess how the use of such medications was associated with the severity and progression of the motor aspects of the
Life’s Essential 8 (LE8) is a score that includes modifiable risk factors for cardiovascular disease. Four health behaviors (diet, physical activity, nicotine exposure and sleep health) and four health factors (non-HDL cholesterol, blood glucose, blood pressure and body mass index) are included. These modifiable risk factors promote inflammation, and inflammation is one of the biological mechanism
AimsThe pathophysiology of orthostatic hypotension (OH), a common clinical condition, associated with adverse outcomes, is incompletely understood. We examined the relationship between OH and circulating endostatin, an endogenous angiogenesis inhibitor with antitumor effects proposed to be involved in blood pressure (BP) regulation.MethodsWe compared endostatin levels in 146 patients with OH and 1
INTRODUCTION: Neuroinflammation is a major contributor to the progression of frontotemporal dementia (FTD). Galectin-3 (Gal-3), a microglial activation regulator, holds promise as a therapeutic target and potential biomarker. Our study aimed to investigate Gal-3 levels in patients with FTD and assess its diagnostic potential. METHODS: We examined Gal-3 levels in brain, serum, and cerebrospinal flu
Background: Not being able to work has negative health, social and financial consequences. Persisting breathlessness is prevalent in working-aged people. Is it associated with lower workforce participation? This study, using the South Australian Health Omnibus, aimed to explore associations between paid workforce participation and persisting breathlessness intensity, and economic impacts on income
