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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

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

The aim of this study was to investigate the association between smoking and bone mineral density (BMD) and radiographically verified prevalent vertebral fractures and incident fractures in elderly men. At baseline 3003 men aged 69 to 80 years of age from the Swedish Mr Os Study completed a standard questionnaire concerning smoking habits and had BMD of the hip and spine measured using dual-energy

Background No effective standard treatment exists for patients with radioiodine-refractory, advanced differentiated thyroid carcinoma. We aimed to assess efficacy and safety of vandetanib, a tyrosine kinase inhibitor of RET, VEGFR and EGFR signalling, in this setting. Methods In this randomised, double-blind, phase 2 trial, we enrolled adults (aged >= 18 years) with locally advanced or metastatic

The oral contraceptive pill is associated with a modest increase in the risk of early-onset breast cancer in the general population, but it is possible that the risk is higher in certain subgroups of women. The relative risk of breast cancer associated with oral contraceptive use has been reported to be higher for African-American women than for white women. African-American women also have a high

The aim of this study was to perform a preliminary assessment of the expected effective dose rate from external exposure to an adult individual staying at that part of the radioactively contaminated territory of the Vetka district of the Gomel region of the Republic of Belarus, from where residents had been resettled after the Chernobyl accident. For this assessment, in summer 2016 and 2018 soil s

Introduction The potential impact of socio-economic condition on virological suppression during antiretroviral treatment (ART) in sub-Saharan Africa is largely unknown. In this case-control study, we compared socio-economic factors among Ethiopian ART recipients with lack of virological suppression to those with undetectable viral load (VL). Methods Cases (VL>1000 copies/ml) and controls (VL<150 c

PURPOSE: Radiological assessment of primary brain neoplasms, both high (HGG) and low grade tumors (LGG), based on contrast-enhancement alone can be inaccurate. We evaluated the radiological value of amide proton transfer weighted (APTw) MRI as an imaging complement for pre-surgical radiological diagnosis of brain tumors.METHODS: Twenty-six patients were evaluated prospectively; (22 males, 4 female

Background: The standard reference region (RR) for amyloid-beta (Aβ) PET studies is the cerebellar grey matter (GMCB), while alternative RRs have mostly been utilized without prior validation against the gold standard. This study compared five commonly used RRs to gold standard plasma input-based quantification using the GMCB. Methods: Thirteen subjects from a test–retest (TRT) study and 30 from a

OBJECTIVE: To evaluate compliance to workflow and accuracy of tests in Sweden's first fast-track referral pathway for patients with nonspecific symptoms and suspected cancer (SCAN).DESIGN: Prospective cohort study with consecutive inclusion of patients referred to the diagnostic center (DC).SETTING: Patients with nonspecific symptoms were examined in primary care according to a protocol including

Background: In patients with chronic obstructive pulmonary disease (COPD), the relationship between short-term bronchodilator reversibility and longer-term response to bronchodilators is unclear. Here, we investigated whether the efficacy of long-acting bronchodilators is associated with reversibility of airflow limitation in patients with COPD with a low exacerbation risk not receiving inhaled co

Human complex-forming glycoprotein, heterogeneous in charge (protein HC) has previously been isolated from urine and immunochemically shown to be present in low and high molecular weight forms in blood plasma (Tejler, L., and Grubb, A. O. (1976) Biochim. Biophys. Acta 439, 82-94). In the present work, the major low and high molecular weight forms of the protein were isolated from plasma by immunos

Importance: Prenatal diagnosis of complex congenital heart defects reduces mortality and morbidity in affected infants. However, fetal echocardiography can be limited by poor acoustic windows, and there is a need for improved diagnostic methods.Objective: To assess the clinical utility of fetal cardiovascular magnetic resonance imaging in cases in which fetal echocardiography could not visualize a

Aims/hypothesis: The study aimed to investigate the effects of HLA class I genes on susceptibility to type 1 diabetes with different onset ages, in addition to the well-established effects of HLA class II genes. Methods: A total of 361 patients with type 1 diabetes (192 patients with onset <18 years and 169 patients with onset ≥18 years) and 500 healthy control participants from China were enrolle

Aims: Alexithymia has been linked to cardiovascular disease. The aim was to explore whether the immuno-inflammatory variables galectin-3 binding protein (Gal3BP), soluble (s)CD163 and galectin-3 were independently associated with alexithymia, while controlling for known risk factors for cardiovascular disease, such as depression, anxiety, impaired glycemic control, obesity, smoking, and physical i

Background: Abdominal obesity is a risk factor for cardiovascular disease. The aim was to explore the influence of midnight salivary cortisol (MSC), antidepressants and sex on abdominal obesity in type 1 diabetes (T1D). We controlled for physical inactivity, smoking, depression and alexithymia. Methods: Cross sectional study of 190 T1D patients (86 women/104 men, 18-59 years, diabetes duration 1-5