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Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by a germline mutation in one of several DNA repair genes, which in the tumors is reflected as microsatellite instability (MSI). MSI+ tumors have been found to carry somatic frameshift mutations in mononucleotide repeats within the coding regions of several genes involved in growth control, apoptosis, and DNA repair, e.g., TGFBRII, BAX, I

We evaluated robotically assisted laparoscopic adrenalectomy (RLA) in a prospective study of 100 consecutive patients (60 women and 40 men) undergoing unilateral adrenalectomy at the University Hospital. The median age was 59 (24-82) years and BMI 27.6 (17.1-40.9) kg/m(2). Preoperative diagnoses were Conn's syndrome 30%, pheochromocytoma 23%, Cushing syndrome 27% and non-functional tumor 20%. The

Background: The objective was to compare patients with ischemic heart disease (IHD) undergoing percutaneous coronary intervention (PCI) who were included in randomized controlled trials (RCTs) (trial participants) with patients who were not included (nonparticipants) on a trial-by-trial basis and according to indication for PCI. Methods: In this cohort study, we compared patients with IHD who were

INTRODUCTION: Genetic screening using high-throughput DNA sequencing has become a tool in diagnosing patients with suspected inherited bleeding disorders (IBD). However, its usefulness and diagnostic efficacy in children is unclear.AIM: To evaluate the diagnostic efficacy of genetic screening for IBD in children and downstream further testing.METHODS: After informed consent, children (<18 years) w

INTRODUCTION: Orthostatic intolerance (OI) is a group of disorders characterized by symptoms that occur upon standing and resolve with recumbence. Although well established but not widely recognized, these diagnoses may create uncertainty for clinicians dealing with a patient affected by OI and requiring a surgical procedure.OBJECTIVES: To determine the rate of intra- and postoperative major adver

Many strains of Trichoderma fungi have beneficial effects on plant growth and pathogen control, but little is known about the importance of plant genotype, nor the underlying mechanisms. We aimed to determine the effect of sugar beet genotypic variation on Trichoderma biostimulation. The effect of Trichoderma afroharzianum T22 on sugar beet inbred genotypes were investigated in soil and on sterile

PurposeThe aim of the present study was to identify the most physically demanding work tasks for Swedish ground combat soldiers through the development and application of a questionnaire survey. This is the first in a series of studies aiming to describe the development process and validation of physical selection standards in the Swedish armed forces.MethodsBased on procedural documentation, comb

Magnesium and potassium concentrations were determined in plasma, erythrocytes and urine collected during 24 h, and in percutaneous muscle biopsies obtained in 30 healthy subjects. Magnesium was also analyzed in mononuclear cells. Men, compared to women, showed a higher urinary excretion of magnesium (p less than 0.05). The magnesium contents in mononuclear cells correlated significantly with the Magnesium and potassium concentrations were determined in plasma, erythrocytes and urine collected during 24 h, and in percutaneous muscle biopsies obtained in 30 healthy subjects. Magnesium was also analyzed in mononuclear cells. Men, compared to women, showed a higher urinary excretion of magnesium (p less than 0.05). The magnesium contents in mononuclear cells correlated significantly with the

We sought to establish the prevalence of lithium-induced end-stage renal disease in two regions of Sweden with 2.7 million inhabitants corresponding to about 30% of the Swedish population. Eighteen patients with lithium-induced end-stage renal disease were identified among the 3369 patients in the general lithium-treated population, representing a sixfold increase in prevalence compared with the g

Established tumour cell lines are ubiquitous tools in research, but their representativity is often debated. One possible caveat is that many cell lines are derived from cells with genomic instability, potentially leading to genotype changes in vitro. We applied SNP-array analysis to an established tumour cell line (WiT49). Even though WiT49 exhibited chromosome segregation errors in 30% of cell d

OBJECTIVES: To evaluate effects of postmenopausal hormone replacement therapy (HRT) on von Willebrand factor, factor (F)VIII, factor (F)VII, fibrinogen, antithrombin (AT) III, prothrombin fragments 1 and 2, protein C, total and free protein S, plasminogen activator inhibitor-1 (PAI-1), tissue plasminogen activator (tPA) and resistance to activated protein C. DESIGN: Part 1: double blind randomized

Osteoporosis is a major health problem affecting more than 75 million people throughout Europe, USA and Japan. Epidemiological studies have determined that both genetic and environmental factors contribute to the pathogenesis of osteoporosis. We have investigated the association between polymorphisms at the osteocalcin locus and variables linked to bone health. Osteocalcin provides a link between

Phobic postural vertigo is characterized by subjective imbalance and dizziness while standing or walking, despite normal values for clinical balance tests. Patients with phobic postural vertigo exhibit an increased high-frequency sway in posturographic tests. Their postural sway, however, becomes similar to the sway of healthy subjects during difficult balance tasks. Posturographic recordings of 3

Cancer patients with advanced disease and short-survival expectancy were given hospital-based advanced home care (AHC) or conventional care (CC), according to their preference. The two groups were compared at baseline to investigate whether there were differences between the AHC and the CC patients that may help explain their choice of care. The patients were consecutively recruited over 2(1/2) ye

Pheochromocytoma and paraganglioma (PPGL) are rare tumours and at least 30% are part of hereditary syndromes. Approximately 20% of hereditary PPGL are caused by pathogenic germ line variants in genes of the succinate dehydrogenase complex (SDHx), TMEM127 or MAX. Herein we present guidelines regarding genetic testing of family members and their surveillance based on a thorough literature review. Al

Background: Interatrial block (IAB) is an ECG indicator of atrial fibrosis related to atrial remodeling and thrombus formation thus leading to embolic stroke and increasing mortality. We aimed to assess weather IAB predicted all-cause mortality during 10 years after ischemic stroke. Methods: The study sample comprised 235 patients (median age 74 (interquartile range 25-75% 65-81) years, 95 female)

Background: The causes and effects of anastomotic leakage after anterior resection are difficult to study in small samples and have thus been evaluated using large population-based national registries. To assess the accuracy of such research, registries should be validated continuously. Material and methods: Patients who underwent anterior resection for rectal cancer during 2007–2013 in 15 differe

Background: Sonographers have a high risk of musculoskeletal disorders. Sonography involves strenuous postures in the neck and upper limbs, and is visually demanding. Echocardiography is especially challenging, with static postures and monotonous movements. Aim: The overall aim of this thesis was to identify ergonomic risk factors for pain in sonographers, and to propose actions for sustainable woBackground: Sonographers have a high risk of musculoskeletal disorders. Sonography involves strenuous postures in the neck and upper limbs, and is visually demanding. Echocardiography is especially challenging, with static postures and monotonous movements. Aim: The overall aim of this thesis was to identify ergonomic risk factors for pain in sonographers, and to propose actions for sustainable wo

Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in hematopoiesis and are primarily associated with early-onset disease. Here we describe a familial syndrome in seven patients from four unrelated pedigrees presenting with myelodysplastic syndrome and loss of chromosome 7/7q. Their median age at diagnosis was 2.1 years (range, 1-42). All patients presented with thr

Växtätare kan påverka ekosystemprocesser, dels genom långsiktiga förändringar av växtsamhällets sammansättning, men också på kortare sikt genom derasmatspjälkning av organiskt material som cyklas genom markens nedbryderorganismer och tillbaka till de primära producenterna. Särskilt störreväxtätare har studerats i stor utsträckning, men i vissa ekosystem som skogar kan de mindre ryggradslösa växtätHerbivory can influence ecosystem processes, partly through long-term changes of the plant community compositions, but also more rapidly through the herbivores’ digestive alteration of the organic matter that is cycled through the soil and back to the primary producers. In the Subarctic mountain birch (Betula pubescens ssp. czerepanovii) forest (SMBF) in Northern Fennoscandia, outbreaks by the geo