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Accurate diagnosis of rare inherited anaemias is challenging, requiring a series of complex and expensive laboratory tests. Targeted next-generation-sequencing (NGS) has been used to investigate these disorders, but the selection of genes on individual panels has been narrow and the validation strategies used have fallen short of the standards required for clinical use. Clinical-grade validation o

The risk of pancreatic cancer (PC) is increased in melanoma-prone families but the causal relationship between germline CDKN2A mutations and PC risk is uncertain, suggesting the existence of non-CDKN2A factors. One genetic possibility involves patients having mutations in multiple high-risk PC-related genes; however, no systematic examination has yet been conducted. We used next-generation sequenc

In cutaneous T cell lymphomas (CTCL), miR-21 is aberrantly expressed in skin and peripheral blood and displays anti-apoptotic properties in malignant T cells. It is, however, unclear exactly which cells express miR-21 and what mechanisms regulate miR-21. Here, we demonstrate miR-21 expression in situ in both malignant and reactive lymphocytes as well as stromal cells. qRT-PCR analysis of 47 patien

Background: Compression of the ulnar nerve at elbow is frequently treated with simple decompression. Knowledge about factors influencing results of surgery of the nerve is limited and contradictory. The primary aim was to evaluate outcome of simple decompression of the nerve using a QuickDASH questionnaire, and to investigate any influence of smoking, gender, and preoperative electrophysiological

Background: Alcohol use disorder (AUD) is a classic multifactorial syndrome and it is critical to understand the diversity of the relevant risk factors and how they inter-relate over development. Method: We examined 21 risk factors for AUD in four developmental tiers reflecting (i) birth, (ii) childhood and early adolescence, (iii) late adolescence, and (iv) early adulthood in 47 414 Swedish men o

One stream of research states that closed innovation and knowledge concealing is imperative for firms seeking to profit from innovation. Another stream of research states that firms can enhance innovation outcomes by means of openness and the selective revealing of knowledge. To contrast these two streams of research, we offer a comparative analysis of under what conditions firms should conceal or

We present the first results of an experiment which is aimed at ultimately producing recommendations for analysing archaeologic ceramics specimens using handheld XRF analysis devices. In this experiment we study the effects of different measurement durations, different number of measured points and three different types of surface treatments (breakage, polished, grounded) when analysing ceramics s

Background:: Those who are seriously ill and facing death are often living with physical, emotional, social, and spiritual suffering. Teamwork is considered to be necessary to holistically meet the diverse needs of patients in palliative care. Reviews of studies regarding palliative care team outcomes have concluded that teams provide benefits, especially regarding pain and symptom management. Muc

We consider the problem of designing demodulators for channels with memory that use reduced-size trellis descriptions for the received signal. We assume an overall iterative receiver, and for the parts of the signal not covered by the trellis description, we use interference cancellation based on the soft information provided by the outer decoder. In order to reach a trellis description, a linear

In this paper, signal strengths from known WiFi access points are used together with a particle filter to perform indoor navigation. It is shown that more information is obtained by using signals of both 2.4 and 5.0 GHz, compared to using only one frequency. Thus, using both frequencies provides a more accurate positioning. The second contribution is an algorithm where WiFi measurements are combin

PurposeThe main purpose of this study is to investigate perceptions about and contributing activities to business-to-business (B2B) brand value by corporate managers and local stakeholders in the context of emerging markets.Design/methodology/approachThe case study examines brand strategies of a multinational company in the high-tech industry. By using NVIVO, this research analyses the brand narra

A separation between the academic subjects statistics and mathematical statistics has existed in Sweden almost as long as there have been statistics professors. The same distinction has not been maintained in other countries. Why is it kept in Sweden?In May 2015 it has been 100 years since Mathematical Statistics was formally established as an academic discipline at a Swedish university where Stat

As the Internet of Things (IoT) era emerges the need for ultra-low power (ULP) devices is becoming more eminent. A research-proven approach to achieve ULP consumption is to aggressively lower the supply voltage (VDD) below or in the vicinity of the transistor threshold voltage (Vth) and operate the transistors in the subthreshold (sub-Vth) region. Operating below or near the threshold voltage, i.eAs the Internet of Things (IoT) era emerges the need for ultra-low power (ULP) devices is becoming more eminent. A research-proven approach to achieve ULP consumption is to aggressively lower the supply voltage (VDD) below or in the vicinity of the transistor threshold voltage (Vth) and operate the transistors in the subthreshold (sub-Vth) region. Operating below or near the threshold voltage, i.e

Given that public transportation networks are often worse in rural areas than in urban areas, it is difficult for elderly non-drivers to access health-promoting goods, services, and resources related to mental health. Moreover, geographical location, assessed by elevation, could modify this association in a rural area. The aim of this study was to test whether the association between car driving (

Event-based sensing and communication holds the promise of lower resource utilization and/or better performance for remote state estimation applicationsin e.g networked control systems (NCS). However, the problem of designing an optimal event-based state estimator often becomes untractable due to nonlinear measurements. This complexity is avoided with stochastic event-triggering. In this work, we

”Varje läkare, vare sig han är i allmän tjänst eller enskilt utövar läkaryrket, åligger att i överensstämmelse med vetenskap och beprövad erfarenhet meddela patient de råd och, såvitt möjligt, den behandling, som patientens tillstånd fordrar,”Begreppet vetenskap och beprövad erfarenhet har åtminstone sedan 1800-talet följt svenska läkare, inte minst genom ovanstående bestämmelse i de läkarinstrukt

Sedan den första Harry Potter-boken publicerades år 1997 har intresset för fantasylitteratur ökat lavinartat. Miljoner av barn, ungdomar och vuxna har följt sina mest omtyckta fantasyhjältar och –hjältinnor på deras äventyr in i magiska världar, där verklighetens lagar utmanas, överskrids och ställs på ända. Men vad kan läsare lära sig om sin egen värld via karaktärernas upptäcksresor in i de magi