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Our aims were to characterize familial hypercholesterolemia (FH) in a Swedish FH population and to further elucidate the clinical expression and treatment response in relation to genotype. Secondly, we wanted to identify gene variants, which may have impact on cholesterol levels in apparently healthy subjects. In the search for sequence alterations in the large LDL receptor gene we introduced and

Popular Abstract in Swedish Populärvetenskaplig sammanfattning Hyaluronan (hyaluronsyra) är en högmolekylär polysackarid som förekommer i all biologisk vävnad i olika koncentrationer, med särskilt höga nivåer i bindväv. Den kan bildas av de flesta celltyper. På molekylär nivå föreligger den i form av ett nystan, har förmågan att binda stora mängder vatten, och har en uttalad pseudoplasticitet. HyaHyaluronan has been found in the eye in varying amounts and at different sites. It is involved in physiological and pathological processes, though many aspects of its bio-logi-cal functions are still unclear. We have studied the role of iris tissue in hyal-uro-nan production in the anterior segment of the eye, and its changes after trauma. After peripheral iridectomy or argon laser treatment, the

Aims/hypothesis Genetic and epidemiological studies suggest an association between gestational diabetes mellitus and type 2 diabetes. Both are polygenic multifactorial disorders characterised by beta cell dysfunction and insulin resistance. Our aim was to investigate whether common genetic variants that have previously been associated with type 2 diabetes or related phenotypes would also confer ri

We have investigated the effects of the novel imidazoline compound (+)-2-(2-(4,5-dihydro-1H-imidazol-2-yl)-thiopene-2-yl-ethyl)pyridine (NNC77-0074) on stimulus-secretion coupling in isolated pancreatic alpha- and beta-cells. NNC77-0074 stimulated glucose-dependent insulin secretion in intact mouse pancreatic islets. No effect was observed at less than or equal to 2.5 mM glucose and maximal stimul

Background: Although omic-based discovery approaches can provide powerful tools for biomarker identification, several reservations have been raised regarding the clinical applicability of gene expression studies, such as their prohibitive cost. However, the limited availability of antibodies is a key barrier to the development of a lower cost alternative, namely a discrete collection of immunohist

The complement system, a part of the innate immune system with several links to the adaptive immune system, plays an important role in the pathogenesis of many diseases. The purpose of this thesis was to document and clarify some of these mechanisms. The thesis is based on four papers (I-IV). (I and II) Autoantibodies to the C3 cleaving enzyme complex of the alternative pathway, C3 nephritic facto

BACKGROUND: Certain immune-mediated diseases (IMDs), such as rheumatoid arthritis and systemic lupus erythematosus, have been linked to cardiovascular disorders. We examined whether there is an association between 32 different IMDs and risk of subsequent hospitalization for coronary heart disease (CHD) related to coronary atherosclerosis in a nationwide follow up study in Sweden. METHODS AND FIND

Objective: Transcatheter valve-in-valve implantation has emerged as an option, in addition to reoperative surgical aortic valve replacement, to treat failed biologic heart valve substitutes. However, the clinical experience with this approach is still limited. We report the comprehensive experience of transcatheter valve-in-valve implantation in the Nordic countries from May 2008 to January 2012.

Purpose: To assess the additional value of subtraction ictal single-photon emission computed tomography (SPECT) coregistered to MRI (SISCOM) for localization of the epileptogenic zone in patients with drug-resistant epilepsy scheduled for invasive video-EEG (VEEG) before epilepsy surgery by a descriptive study from clinical practice. Methods: Forty-nine consecutive epilepsy patients between Januar

Coffee and tea contain numerous antimutagenic and antioxidant components and high levels of caffeine that may protect against colorectal cancer (CRC). We investigated the association between coffee and tea consumption and CRC risk and studied potential effect modification by CYP1A2 and NAT2 genotypes, enzymes involved in the metabolization of caffeine. Data from 477,071 participants (70.2% female)

Background Olaparib, a novel, orally active poly(ADP-ribose) polymerase (PARP) inhibitor, induced synthetic lethality in BRCA-deficient cells. A maximum tolerated dose and initial signal of efficacy in BRCA-deficient ovarian cancers have been reported. We therefore assessed the efficacy, safety, and tolerability of olaparib alone in women with BRCA1 or BRCA2 mutations and advanced breast cancer. M

The rs738409 C > G single-nucleotide polymorphism in PNPLA3 leads to a missense mutation (I148M) which increases liver fat but does not cause insulin resistance. We hypothesised that patients with non-alcoholic fatty liver disease (NAFLD) due to the PNPLA3 variant ('PNPLA3 NAFLD'aEuro parts per thousand= PNPLA3-148MM) do not have adipose tissue (AT) inflammation in contrast with those with NAFLD d

IMPORTANCE Bipolar disorder is associated with premature mortality, but the specific causes and underlying pathways are unclear. OBJECTIVE To examine the physical health effects of bipolar disorder using outpatient and inpatient data for a national population. DESIGN, SETTING, AND PARTICIPANTS National cohort study of 6 587 036 Swedish adults, including 6618 with bipolar disorder. MAIN OUTCOMES AN

There is concern over the high risk of cardiovascular complications, hypertensive disorders, and other adverse obstetric outcomes among pregnant women with Turner syndrome (TS). A diagnosis of TS is made in some women late in life or not at all. Spontaneous pregnancies are rare in women with TS and are associated with a high rate of complications, especially miscarriage. The use of assisted reprod

Objectives This study sought to study the second-generation everolimus-eluting stent (EES) as compared with first-generation sirolimus-eluting (SES) and paclitaxel-eluting stents (PES) in diabetes mellitus (DM) patients. Background There are limited data available comparing clinical outcomes in this setting with EES and SES, whereas studies comparing EES with PES are not powered for low-frequency

A series of four new analogue phases Ca2M2X (M = Pd, Pt and X = Al, Ge) were prepared by direct combination of the respective elements in stoichiometric mixtures at high temperature in order to analyze the impact of valence electron count (vec) and electronegativity differences (Delta chi) on the structure selection and stability. Their crystal structures, as determined from single-crystal X-ray d

Background: The maintenance of postural control is fundamental for different types of physical activity. This can be measured by having subjects stand on one leg on a force plate. Many studies assessing standing balance have previously been carried out in patients with ankle ligament injuries but not in patients with ankle fractures. The aim of this study was to evaluate whether patients operated

Objective. Increasing survival of extremely low birth weight (ELBW; birth weight < 1000 g) infants raises a concern regarding the risks of adverse long-term outcome such as cognitive dysfunction. Few studies have reported long-term follow-up of representative regional cohorts. The objective of this study was to assess the 5-year outcome of a prospectively followed national ELBW infant cohort. Meth

Patients with acute asthma attending the emergency room were included in a double-blind, double-dummy and parallel group study to investigate whether a dry powder inhaler (Turbuhaler) can be used in acute asthma. If so, the aim was to establish the potency relationship between a beta 2-agonist (salbutamol) administered by the dry powder inhaler and the pressurized metered-dose inhaler (pMDI). Eigh

Popular Abstract in Swedish Populärvetenskaplig sammanfattning på svenska Abort är ett av de vanligaste kriurgiska ingreppen i Sverige. 1989 var aborttalet för hela landet 21.5 per 1000 kvinnor i åldern 15-24 år. Storstäderna Stockholm, Göteborg och Malmö har i många år haft det högsta aborttalen, vilka var för dessa 1989 28.4, 27.0 respektive 27.8. De aktuella studierna omfattar de 1466 kvinnorIn Sweden between 32-38,000 women annually elect to terminate pregnancy by means of induced abortion, though their reasons are still not well understood. The purpose of these studies, carried out at the Department of Obstetrics and gynecology and of Community Medicine at University Hospital, Malmö, was to elucidate the incidence of induced abortion in an urban population, with special emphasis on