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Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic

BACKGROUND: A mutation found in the BRCA1 or BRCA2 gene of a breast tumor could be either germline or somatically acquired. The prevalence of somatic BRCA1/2 mutations and the ratio between somatic and germline BRCA1/2 mutations in unselected breast cancer patients are currently unclear.PATIENTS AND METHODS: Paired normal and tumor DNA was analyzed for BRCA1/2 mutations by massively parallel seque

Energy reserves, information need and a pinch of personality determine decision-making on route in partially migratory blue tits

In facultative partial migrants some individuals in a population are migratory and others are resident and individuals decide each year anew which strategy to choose. While the proportion of birds migrating is in part determined by environmental conditions and competitive abilities, the timing of individual departure and behaviours on route are little understood. Individuals encounter different en

Salt-inducible kinase 2 and -3 are downregulated in adipose tissue from obese or insulin-resistant individuals : implications for insulin signalling and glucose uptake in human adipocytes

AIMS/HYPOTHESIS: Salt-inducible kinases (SIKs) are related to the metabolic regulator AMP-activated protein kinase (AMPK). SIK2 is abundant in adipose tissue. The aims of this study were to investigate the expression of SIKs in relation to human obesity and insulin resistance, and to evaluate whether changes in the expression of SIKs might play a causal role in the development of disturbed glucose

Formalism vs. empiricism. Some reflections on the Dublin convention on the occasion of recent European case law

The drafters of the 1990 Dublin Convention knowingly and willfully disregarded divergences among Member States' protection systems. Like a boomerang, the fallacy of this approach has now reappeared in cases where asylum seekers have challenged transfers under the Convention, tasking judges to tackle a problem which its drafters avoided. The core issue of this article is whether and when such diver

TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma

The TCF4 gene encodes for the basic helix–loop–helix transcription factor 4 (TCF4), which plays an important role in the development of the central nervous system (CNS). Haploinsufficiency of TCF4 was found to cause Pitt-Hopkins syndrome (PTHS), a severe neurodevelopmental disorder. Recently, the screening of a large cohort of medulloblastoma (MB), a highly aggressive embryonal brain tumor, reveal

MicroRNAs in islet hormone secretion

Pancreatic islet hormone secretion is central in the maintenance of blood glucose homeostasis. During development of hyperglycaemia, the β-cell is under pressure to release more insulin to compensate for increased insulin resistance. Failure of the β-cells to secrete enough insulin results in type 2 diabetes (T2D). MicroRNAs (miRNAs) are short non-coding RNA molecules suitable for rapid regulation

Surgical fasciectomy versus collagenase injection in treating recurrent Dupuytren disease : Study protocol of a randomised controlled trial

Introduction: There is no definitive cure for Dupuytren disease (DD), and recurrence of finger contractures after treatment is common. Surgical fasciectomy is considered the standard treatment method for recurrence, although associated with a high incidence of complications. Collagenase injection, a non-surgical treatment option, has been shown to be a safe and effective method; however, most stud

Complement C3 and incident hospitalization due to chronic kidney disease : a population-based cohort study

BACKGROUND: Circulating C3 has been associated with diabetes and hypertension, which are the leading causes of chronic kidney disease (CKD). C3 activation is considered to contribute to several renal diseases. Here we examined whether elevated C3 concentration is associated with hospitalization due to CKD in the general population, and whether this relationship is mediated by factors such as diabe

Increased mortality in non-alcoholic fatty liver disease with chronic kidney disease is explained by metabolic comorbidities

Background: There is a close association between non-alcoholic fatty liver disease (NAFLD) and prevalent chronic kidney disease (CKD). Few longitudinal studies exist. No previous study has investigated to what extent CKD affects mortality in biopsy-proven NAFLD. Our aim was to investigate the long-term risk of developing CKD in biopsy-proven NAFLD and its effect on mortality. Methods: Patients wi

90-Day readmission after radical prostatectomy—a prospective comparison between robot-assisted and open surgery

Purpose: All types of surgery are associated with complications. The debate is ongoing whether robot-assisted radical prostatectomy can lower this risk compared to open surgery. The objective of the present study was to evaluate post-operative adverse events leading to readmissions, using clinical records to classify these adverse events systematically. Materials and methods: A prospective control

Health-related quality of life in children with Type 1 diabetes: an RCT of hospital-based care and hospital-based home care at diagnosis

Introduction: When a child is diagnosed with Type 1 diabetes, it involves extensive lifestyle changes for the whole family. There is limited knowledge of the impact the initial care has for children and parents over time. The aim was to compare children’s diabetes-specific health-related quality of life (HRQOL) in hospital-based care and hospital-based home care (HBHC), 12 and 24 months after the

Host preference variation cannot explain microhabitat differentiation among sympatric Pieris napi and Pieris rapae butterflies

1. Often, closely related insect species feed on different host plant species, and the tremendous diversity of phytophagous insects is therefore attributed to host plant-driven speciation. However, for most taxa, host use information comes from field observations of egg-laying females or feeding caterpillars, which means that the underlying reason for a particular host-affiliation is not easily de

Biomarkers of blood cadmium and incidence of cardiovascular events in non-smokers : Results from a population-based proteomics study

Background: Cadmium is a toxic metal with multiple adverse health effects, including risk of cardiovascular disease (CVD). The mechanistic link between cadmium and CVD is unclear. Our aim was to examine the associations between blood cadmium (B-Cd) and 88 potential protein biomarkers of CVD. Methods: B-Cd and 88 plasma proteins were measured in a community-based prospective cohort, the Malmö Diet

Rising rural body-mass index is the main driver of the global obesity epidemic in adults

Body-mass index (BMI) has increased steadily in most countries in parallel with a rise in the proportion of the population who live in cities 1,2 . This has led to a widely reported view that urbanization is one of the most important drivers of the global rise in obesity 3–6 . Here we use 2,009 population-based studies, with measurements of height and weight in more than 112 million adults, to re

Processes toward the end of life and dialysis withdrawal Physicians’ and nurses’ perspectives

Background:Nurses and physicians in nephrology settings provide care for patients with end-stage kidney disease receiving hemodialysis treatment along a complex illness trajectory.Aim:The aim was to explore physicians’ and nurses’ perspectives on the trajectories toward the end of life involving decisions regarding hemodialysis withdrawal for patients with end-stage kidney disease.Research design