Filetype
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 Bakgrund: Sedan Wilhelm Conrad Röntgen upptäckte röntgenstrålar 1896 utvecklades den diagnostiska röntgentekniken snabbt. Under första hälften av 1900-talet var användningen av joniserande strålning i form av röntgenstrålar den enda princip med vilken den allt mer tekniskt avancerade röntgendiagnostiken bedrevs. För att åskådliggöra blodkärl använder sig konventionell r
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)
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
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
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
Background: End-stage kidney disease overwhelms health services in Central America. We determined prevalences of decreased kidney function in distinct populations in the most affected region of Nicaragua. Study Design: Cross-sectional survey. Setting & Participants: Total populations aged 20-60 years of 5 villages in Northwest Nicaragua: mining/subsistence farming (elevation, 100-300 m above s
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
The Central Scandinavian Dolerite Group (CSDG) occurs in five separate complexes in central Sweden and SW Finland. U-Pb baddeleyite ages of dolerite dikes and sills fall into three age intervals: 1264-1271 (the Dalarna complex), 1256-1259 (the Vdsterbotten-Ulvo-Satakunta complexes) and similar to 1247 Ma (the Jamtland complex). Timing and spatial distribution of CSDG are unlike expressions of the
Between 1992 and 2004, 1,140 children (1 to < 15 years) were diagnosed with B-cell precursor acute lymphoblastic leukemia (ALL) in the Nordic countries. Of these, 288 (25%) were positive for t(12; 21)(p 13;q22) [ETV6/RUNXI]. G-banding analyses were successful in 245 (85%); 43 (15%) were karyotypic failures. The modal chromosome numbers, incidence, types, and numbers of additional abnormalities, ge
This study investigates the toxic effect of E(2)nonenal (trans-2-nonenal, T2N) and its conjugate with horse muscle myoglobin (Mb) tested on murine cell line L929 and human cell line A549, as well as the genotoxic effect of these compounds assayed by measuring of micronuclei in human cells K562. It is an aldehyde, which is occurring as the substance responsible for an off flavour in aged beers, but
BACKGROUND: Dietary factors are thought to have an important role in gastric and esophageal carcinogenesis, but evidence from cohort studies for such a role is lacking. We examined the risks of gastric cancer and esophageal adenocarcinoma associated with meat consumption within the European Prospective Investigation Into Cancer and Nutrition (EPIC) cohort. METHODS: A total of 521,457 men and women
The overall aims of this thesis were to investigate the prevalence, severity and bother of Lower Urinary Tract Symptoms (LUTS) in a clinical sample of stroke patients and to evaluate the effect of pelvic floor muscle training (PFMT) in women with urinary incontinence after ischemic stroke. The thesis consisted of 6 articles based on 4 studies and a review. In the first study (Paper I), the Danish
Soft tissue sarcomas (STS) represent a group of rare and heterogenous tumors that optimally should be diagnosed and treated within multidisciplinary teams. This thesis has studied various aspects ? pathological, genetical, and clinical ? of STS. In study I, we demonstrated that 20% of the patients in a population-based series of 818 STS developed second primary malignancies. An increased risk of
A consecutive series of patients with all types of cervical hip fracture (both undisplaced and displaced) were randomised to osteosynthesis with Hansson hook-pins (n = 98) or AO-screws (n = 101). Background parameters, fracture type and reduction of the fracture did not differ significantly between the groups. Fifty-seven percent of the patients were operated on within 6 h of admission to hospital
In a prospective study of a consecutive breast cancer series accumulated in the period 1978-82, the S-phase fraction (SPF) and ploidy status were determined by flow cytometry performed on cell nuclei derived from samples of 580 primary tumors. Sixty percent of the tumors were non-diploid. After correction for debris the median SPF values were 7.3% overall, 12% for non-diploid tumors, and 2.9% for
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: To determine what constitutes normal cervical changes during the second half of pregnancy in parous women delivering at term. DESIGN: The study comprises 21 healthy, pregnant parous women who all gave birth at term. They were examined with transvaginal ultrasound every two weeks from 24 gestational weeks until delivery. Cervical length and width were measured. The inner cervical os was
The study is based on monitoring data on the seasonal variation during four (1996-1999) vegetation periods, as well as long-term summer data on submerged vegetation, nutrients, light, phyto-plankton and zooplankton in Lake Krankesjon, a shallow, calcium-rich, moderately eutrophic take in southern Sweden. The lake has been in the clear water state with abundant submerged vegetation since the end of
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
