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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
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 Esofagektomi (kirurgiskt avlägsnande av matstrupen) är ett omfattande ingrepp som främst utförs pga cancer, men som även utförs vid vissa godartade sjukdomar. Matstrupen sträcker sig från svalget, via bakre delen av bröstkorgen ned till övre delen av buken. Det anatomiska läget gör att man ur kirurgisk synpunkt oftast måste avlägsna matstrupen via en kombination av inciIn a prospective randomised study following oesophagectomy and gastric tube reconstruction patients with hand-sutured neck anastomoses were compared with patients with circular stapled chest anastomoses. The two groups had equal rates of anastomotic or conduit leaks of 7.3 % (3/41) and 7.1 % (3/42) and of benign anastomotic strictures of 19.5 % (8/41) and 28.6 % (12/42). Another prospective random
Popular Abstract in Swedish Under det senaste decenniet har risker med och alternativ till allogent blod (blod från främmande givare) debatterats mycket pga. risken för smitta, allergiska reaktioner, samt starka indicier som talar för att blod från främmande givare kan påverka immunförsvaret hos mottagaren. Därför vill man gärna begränsa mängden tillfört givarblod under kirurgiska ingrepp på barn,In children, it is often desirable to minimize allogenic blood transfusion, and this thesis explores the physiology of an alternative method of managing perioperative blood loss: hemodilution with Ringer´s dextran. Methods Clinical studies: Arterial pressure, superior caval venous oxygen saturation (ScvO2) and blood lactate concentration (L) were studied during bone marrow harvesting (BMH) on 23
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
AIMS/HYPOTHESIS: Type 1 diabetes in children is characterised by autoimmune destruction of pancreatic beta cells and the presence of certain risk genotypes. In adults the same situation is often referred to as latent autoimmune diabetes in adults (LADA). We tested whether genetic markers associated with type 1 or type 2 diabetes could help to discriminate between autoimmune and non-autoimmune diab
OBJECTIVE: To assess the prognostic value for patient survival of different forms of PSA and ratios thereof, before treatment for prostate cancer, by considering the forms and ratios both as independent markers and by comparing them with other commonly used prognostic markers, e.g. tumour grade, local stage (T-stage) and absence or presence of skeletal metastases (M-stage). PATIENTS AND METHODS: B
BACKGROUND: Direct-to-consumer telemedicine is an increasingly used modality to access primary care. Previous research on assessment using synchronous virtual visits showed mixed results regarding antibiotic prescription rates, and research on assessment using asynchronous chat-based eVisits is lacking.OBJECTIVE: The goal of the research was to investigate if eVisit management of sore throat, othe
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
Objective: To identify factors affecting the outcome after open surgical (OSR) and endovascular (ER) repair of popliteal artery aneurysm (PA) in comparable cohorts. Methods: A matched comparison in a national, population based cohort of 592 legs treated for PA (2008 – 2012), with long term follow up. Registry data from 899 PA patients treated in 2014 – 2018 were analysed for time trends. The 77 le
Objective: To investigate how genetics influence the risk of smoking-related systemic lupus erythematosus (SLE) manifestations. Methods: Patients with SLE (ndiscovery cohort=776, nreplication cohort=836) were genotyped using the 200K Immunochip single nucleotide polymorphisms (SNP) Array (Illumina) and a custom array. Sixty SNPs with SLE association (p<5.0×10-8) were analysed. Signal transducer an
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
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
Introduction: Limited prospective evidence is available to guide selection of first-line maintenance therapy in patients with COPD. This pre-specified analysis of the EMAX trial explored the efficacy and safety of dual-versus mono-bronchodilator therapy in maintenance-naïve and maintenance-treated patients. Methods: The 24-week EMAX trial evaluated lung function, symptoms (including rescue medicat
