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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

Objectives: To examine the relationship between the English index of multiple deprivation (IMD) and the incidence of stillbirth and assess whether IMD contributes to the prediction of stillbirth provided by the combination of maternal demographic characteristics and elements of medical history. Methods: This was a prospective, observational study of 159 125 women with a singleton pregnancy who att

OBJECTIVE: To explore associations of HLA class II genes (HLAII) with the progression of islet autoimmunity from asymptomatic to symptomatic type 1 diabetes (T1D).RESEARCH DESIGN AND METHODS: Next-generation targeted sequencing was used to genotype eight HLAII genes (DQA1, DQB1, DRB1, DRB3, DRB4, DRB5, DPA1, DPB1) in 1,216 participants from the Diabetes Prevention Trial-1 and Randomized Diabetes P

It is presently unclear whether free serum 25 hydroxyvitamin D (S 25(OH)D) better reflects bone health than total S 25(OH)D. We have previously shown that summer total S 25(OH)D values are more useful to predict bone mineral density (BMD) than winter values. Our objective was therefore to compare the relative importance of free and total S 25(OH)D for BMD by season. BMD was measured by dual energy

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

Background: Ingestion of a meal increases the blood flow to the gastrointestinal organs and affects the heart rate (HR), blood pressure and cardiac output (CO), although the mechanisms are not known. The aim of this study was to evaluate the effect of endogenously released glucose, insulin, glucagon-like peptide 1 (GLP-1), ghrelin on CO, HR, stroke volume (SV), and blood pressure. Methods: Eleven

Background: High expression of the polymeric immunoglobulin receptor (PIGR) has previously been associated with a favourable prognosis in a few cancer forms, but its expression and relationship with clinical outcome in epithelial ovarian cancer (EOC) has not yet been reported. The aim of this study was therefore to examine the clinicopathological correlates and prognostic significance of PIGR expr

A study related to the development and characterization of a new gene delivery system was performed. The approach consists in both the pre-condensation of plasmid DNA with an arginine-based cationic surfactant, arginine-N-lauroyl amide dihydrochloride (ALA), which was found not to be toxic, and the incorporation of the blood protein transferrin (Tf) into the formulations.Two cationic liposome form

Objective The complex genetic aetiology underlying irritable bowel syndrome (IBS) needs to be assessed in large-scale genetic studies. Two independent IBS cohorts were genotyped to assess whether genetic variability in immune, neuronal and barrier integrity genes is associated with IBS. Design 384 single nucleotide polymorphisms (SNPs) covering 270 genes were genotyped in an exploratory cohort (93

The aim of this project is to explore and understand the combustion phenomenon in engines operating on gaseous fuels, and develop technologies as an alternative to the present diesel engine technologies for heavy duty applications; which are facing severe challenges like stringent emissions norms, high technology costs and unsustainable fuel supply. The studies presented in this thesis focus on th

The 20q13 region is frequently amplified/overexpressed in breast tumours. However, the nature of this amplification/overexpression is unknown. Here, we investigated genetic variation in five 20q13 amplicon genes (MYBL2, AURKA, ZNF217, STK4 and PTPN1) and its impact on breast cancer (BC) susceptibility and clinical outcome. As a novel finding, four polymorphisms in STK4 (rs6017452, rs7271519) and A

Objective . Low density lipoprotein cholesterol (LDL-C) is an independent and modifiable risk factor for development of cardiovascular disease (CVD). Postprandial lipid metabolism has been linked to CVD, but little is known about the postprandial LDL-C profile in patients with type-2 diabetes (T2DM). We aimed to study the postprandial levels of LDL-C in T2DM patients. Material and methods . After

In experimentally induced myocardial ischemia, mild hypothermia (33-35 degrees C) has a robust cardioprotective effect. Tissue plasminogen activator (t-PA) is a profibrinolytic enzyme that is released from the vascular endothelial cells in response to ischemia and other injurious stimuli. t-PA has also been found to have proinflammatory properties that could contribute to reperfusion injury. We po

Background: While simultaneous saccharification and co-fermentation (SSCF) is considered to be a promising process for bioconversion of lignocellulosic materials to ethanol, there are still relatively little demo-plant data and operating experiences reported in the literature. In the current work, we designed a SSCF process and scaled up from lab to demo scale reaching 4% (w/v) ethanol using xylos

In international research there is a near consensus that the importance of cities is growing. As the policymakers of contemporary cities redirect their policy orientations away from the goal of redistribution towards achieving economic competitiveness, and as they introduce new structures of governance, they are becoming more and more committed to entrepreneurial city politics. However, both the i

Background The perception of surgery as expensive and complex might be a barrier to its widespread acceptance in global health efforts. We did a systematic review and analysis of cost-effectiveness studies that assess surgical interventions in low-income and middle-income countries to help quantify the potential value of surgery. Methods We searched Medline for all relevant articles published betw

OBJECTIVE: High concentrations of leukocytes in blood have been associated with diabetes mellitus. This prospective study aimed to explore whether total and differential leukocyte counts are associated with incidence of diabetes. A missense variant R262W in the SH2B3 (SH2B adaptor protein 3) gene, coding for a protein that negatively regulates hematopoietic cell proliferation, was also studied in

The Major Intrinsic Proteins, MIPs, constitute a large, ancient superfamily of membrane proteins that are found in all kingdoms of life. Most MIPs facilitate passive diffusion of water across biological membranes (aquaporins), although many channels are also permeable for glycerol and other small uncharged solutes, (aquaglyceroporins). Other substrates reported for specific MIPs are anions, carbon

Background: Different foods can modulate cardiometabolic risk factors in persons already affected by metabolic alterations. The objective of this study was to assess, in healthy overweight individuals, the impact of a diet combining multiple functional concepts on risk markers associated with cardiometabolic diseases (CMD). Methods: Fourty-four healthy women and men (50-73 y.o, BMI 25-33, fasting