Balanced structural variants, such as reciprocal translocations, are sometimes hard to detect with sequencing, especially when the breakpoints are located in repetitive or insufficiently mapped regions of the genome. In such cases, long-range information is required to resolve the rearrangement, identify disrupted genes and, in symptomatic carriers, pinpoint the disease-causing mechanisms. Here, w

EU law increasingly requires that the Member States establish independent administrative bodies in various fields. Examples include market supervision, non-discrimination, and data protection. This article addresses the realisation of such requirements in the five Nordic states. The West Nordic systems of Denmark, Iceland, and Norway feature a traditional hierarchic organisation of the administrat

Background: Risk prediction is an essential part of preventative medicine and in recent years genomic information has become an interesting factor in risk models. Polygenic risk scores (PRS) combine the effect of many genetic variations into a single score which has been shown to have predictive value for many diseases. This study aimed to investigate the association between PRS for endometriosis

Prader-Willi syndrome (PWS; MIM# 176270) is a neurodevelopmental disorder caused by the loss of expression of paternally imprinted genes within the PWS region located on 15q11.2. It is usually caused by either maternal uniparental disomy of chromosome 15 (UPD15) or 15q11.2 recurrent deletion(s). Here, we report a healthy carrier of a balanced X;15 translocation and her two daughters, both with the

Glyphosate-based herbicides (GBH) are among the most sold pesticides in the world. There are several formulations based on the active ingredient glyphosate (GLY) used along with other chemicals to improve the absorption and penetration in plants. The final composition of commercial GBH may modify GLY toxicological profile, potentially enhancing its neurotoxic properties. The developing nervous sys

BACKGROUND: Post-traumatic syringomyelia (PTS) affects patients with chronic spinal cord injury (SCI) and is characterized by progressive deterioration of neurological symptoms. To improve surgical treatment, we studied the therapeutic effects of neuroepithelial-like stem cells (NESCs) derived from induced pluripotent stem cells (iPSCs) in a rat model of PTS. To facilitate clinical translation, we

Introduction: Research and healthcare services struggle to fulfil the desires and needs of nursing home residents, and there is a call for person-centredness in both research and healthcare practice. Involvement of people outside academia in research has been advocated in an effort to increase the relevance and impact of research findings for the public. However, little is known on how to involve

Purpose: To identify a specific factor that can support the decision for prophylactic fixation in unilateral slipped capital femoral epiphysis. Methods: This retrospective cohort study included a total national population of 379 children diagnosed with slipped capital femoral epiphysis from 2007 to 2013. Regression analysis used information on slip severity, clinical classification of the index hi

This contribution describes a novel process design consisting of the implementation of a high performance liquid chromatography (HPLC) system into an existing integrated biopharmaceutical purification platform in order to extend the possibilities of analysis. This setup is controlled by a custom-made set of software tools, namely the combination of Orbit along with a C# based program called Satell

The value problem for knowledge is the problem of explaining why knowledge is more valuable than mere true belief. The problem arises for reliabilism in particular, i.e., the externalist view that knowledge amounts to reliably acquired true belief. Goldman and Olsson argue that knowledge, in this sense, is more valuable than mere true belief due to the higher likelihood of future true beliefs (pro

Water scarcity is one of the major challenges in semi-arid and arid areas. Drivers for water scarcity include climate change, population growth, economic, and agricultural development. This paper presents a framework for assessing water scarcity under the impact of climate, industry, and socio-economic changes in the Qazvin Plain, Iran. A system dynamics model is developed and calibrated using his

A major fraction of nitrogen (N) in boreal forest soils is found in organic forms associated with soil organic matter (SOM) and mineral particles. The capacity of ectomycorrhizal (ECM) fungal symbionts to access this N is debated, considering that these fungi have lost many of the genes for decomposing organic matter that were present in their saprotrophic ancestors. To gain a molecular-level unde

Background and purpose — Information on outcomes after some modern total ankle replacement (TAR) designs is scarce. We therefore examined outcomes after trabecular metal (TM) TAR in Sweden by use of data from the national registry. Patients and methods — On December 31, 2020, 239 primary TM TARs had been reported to the Swedish Ankle Registry. We analyzed prosthesis survival probability, using exc

Surgical approach with reduction pulmonary artery plasty and valved conduit in patients with respiratory compromise prior to repair is associated with excellent long-term survival at the cost of a higher reintervention rate. OBJECTIVES: Absent pulmonary valve syndrome is a rare congenital heart defect with pulmonary artery dilatation and secondary airway compression. Although preoperative respirat

Background: Sufficient pain management is a necessity and can play an important role in patients’ contentment. Aims: To investigate the instituted postoperative pain treatment, patients’ levels of pain, opioid consumption, and patient contentment, supplemented with a questionnaire based on the International Pain Outcome (IPO). Methods: This prospective observational cohort study was conducted at Z

Objective: A common issue of freeze drying is the inhomogeneity between samples, both in regards to water content and structure. The purpose of this study is to address this issue, and try to understand the cause of inhomogeneity in the heat transfer and sample temperature. Methods: The temperature and the heat transfer was measured using different setups, both with and without vial holders at var

Recension av Antony Beevor, Ryssland. Revolution och inbördeskrig 1917–1921.

Background: Population-based register data could be used to improve our knowledge of patients surgically treated for foot and ankle disorders. The quality register Swefoot was recently created to collect surgical and patient-reported data of foot and ankle surgery. This manuscript aims to describe the development and current use of the register. Methods: The development of Swefoot started in 2014