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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

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 Fidanacogene elaparvovec, an adeno-associated virus (AAV) gene-therapy vector for hemophilia B containing a high-activity human factor IX variant (FIX-R338L/FIX-Padua), was associated with sustained factor IX activity in a phase 1-2a study. Methods We conducted a phase 3 open-label study of fidanacogene elaparvovec at a dose of 5×1011 vector genome copies per kilogram of body weight. Me

Background: Butaro Cancer Center of Excellence (BCCOE) was founded to serve Rwanda’s rural low-income population, providing subsidized cancer diagnosis and treatment with transport stipends for the lowest-income patients. We examined whether travel distance to BCCOE was associated with advanced-stage diagnoses and treatment completion. Methods: We conducted a retrospective cohort study using medic

Background and Aims The long-term outcomes of percutaneous coronary intervention (PCI) vs. coronary artery bypass grafting (CABG) in patients with non-ST-segment elevation myocardial infarction (NSTEMI) and multivessel disease remain debated. Methods The Swedish Web-system for Enhancement and Development of Evidence-based care in Heart disease Evaluated According to Recommended Therapies registry

BACKGROUND: In 2013, it was discovered that a subset of the population in Ronneby, Sweden was exposed to high levels of perfluorinated compounds (PFAS) from drinking water that had been provided by the local Brantafors waterworks and was contaminated by fire-fighting foam from a nearby airport. The start and time-course of population exposures are not known.OBJECTIVE: To investigate the start of P

Deteriorating water quality is a challenge which affects people of the entire world, with a growing population and increased industrialization worldwide. The problem is especially apparent in many developing nations where water resource management must be improved to secure a future sustainable supply. This study was undertaken as a bachelor degree within the MFS-program funded by SIDA. The study

Popular Abstract in Swedish Bröstcancer är den vanligaste cancerformen i världen bland kvinnor och bara i Sverige insjuknar varje år runt 7000 personer. Vi vet att omkring 10-15% av fallen troligen beror på ärftliga faktorer och det har under senare tid gjorts stora insatser för att klargöra exakt vilka arvsanlag som har betydelse för utveckling av sjukdomen. Under början av 90-talet identifieradeHereditary breast cancer constitutes a considerable fraction of the total number of breast cancer cases occurring each year. Up until recently very few breast cancer predisposing genes were known, but many new common polymorphisms contributing to increased cancer susceptibility are continuously being identified. This thesis has focused on familial breast cancer and identifying as well as investi

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

OBJECTIVE: This study assessed prognostic factors regarding long-term outcome for amputation and death among patients who underwent intra-arterial thrombolysis due to lower limb ischemia. METHODS: Consecutive patients with intra-arterial thrombolysis due to lower limb ischemia treated at the Department of Vascular Diseases, University Hospital of Malmö, between January 1, 2001, and December 31, 20

Background: The aim in the thesis is to study diagnostic issues, clinical features, therapy, and prognosis in selected demyelinative disorders of the nervous system: optic neuritis (ON), primary progressive MS (PPMS), and tumefactive MS (a very rare acute demyelinating disorder). Methods: From an initial cohort of 110 patients with ON collected 19 to 31 years ago, a new follow-up survey was cond

BACKGROUND: Primary cervical screening with both human papillomavirus (HPV) DNA testing and cytological examination of cervical cells with a Pap test (cytology) has been evaluated in randomized clinical trials. Because the vast majority of women with positive cytology are also HPV DNA positive, screening strategies that use HPV DNA testing as the primary screening test may be more effective. METHO

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

Background: There are several risk factors for the colonisation, infection and spreading of antibiotic resistant bacteria among elderly residents of nursing homes. An updated estimate of the native prevalence of antimicrobial resistance in uropathogens among Swedish nursing home residents is needed. Methods: Urine specimens were collected for culture and antimicrobial susceptibility testing agains

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

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