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Identification of regulators of hematopoietic stem and progenitor cells in vivo in humans using population genetics

Introduction: Understanding how hematopoietic stem- and progenitor cells (HSPCs) are regulated is of central importance for the development of new therapies for blood disorders and for regenerative medicine. Traditionally, however, HSPC regulation has been studied in model systems, and little is known about the situation in vivo in humans. Methods: To learn how HSPCs are regulated under native con

In the eyes of the beholder: On innovation metrics : A study on innovation metrics in changing strategic contexts

Innovation är en kraft som står bakom förändringen i vår vardag. Till exempel att prata med någon på andra sidan jordklotet med en mobil eller beställa dina matvaror eller skor på din smarta mobil. Det var otänkbart för mindre än 40 år sedan. Vi vill naturligtvis att innovationer i vårt samhälle ska fortsätta förbättra våra liv. Men innovationsverksamhet och att generera nya produkter, tjänster, aInnovation measurement and metrics have fascinated scholars from several disciplines over the last decade. Allthese diverse contributions, however, have resulted in a current state of knowledge that is signified by largenumbers of articles without clear integration and synthesis. Therefore, this thesis aims to increase thetheoretical, empirical, and practical understanding of innovation measuremen

Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics : The opportunities and challenges

Next-generation sequencing (NGS) will soon be used for clinically heterogeneous, inherited disorders and the increasing number of disease-causing genes reported. Diagnostic laboratories therefore need to decide which NGS methods they are going to invest in and how to implement them. We discuss here the challenges and opportunities of using targeted resequencing (TRS) panels for diagnosing monogene

Assessment of speech in early-onset ataxia : A pilot study

Aim: The aim of the study was to determine whether paediatric ataxia speech subscores are reliably applicable for international early-onset ataxia (EOA) databases. If so, we reasoned that ataxia speech subscores should be associated with ataxia scores and involve high interobserver agreement, including those for internationally applicable Scale for Assessment and Rating of Ataxia (SARA) syllable r

A sensitive and simple ultra-high-performance-liquid chromatography-tandem mass spectrometry based method for the quantification of d-amino acids in body fluids

d-Amino acids are increasingly being recognized as important signaling molecules in mammals, including humans. d-Serine and d-aspartate are believed to act as signaling molecules in the central nervous system. Interestingly, several other d-amino acids also occur in human plasma, but very little is currently known regarding their function and origin. Abnormal levels of d-amino acids have been impl

Myotonia in colchicine myoneuropathy

Colchicine may induce a myoneuropathy in patients with renal insufficiency. To date, myotonia has not been described in this disorder. We recently studied 4 patients treated with routine doses of colchicine who, in the setting of renal insufficiency, developed a severe myoneuropathy characterized by prominent myotonic discharges on electromyography. In addition, 1 of the 4 patients had profound cl

Practical management in Wolcott-Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure : A case report

Wolcott-Rallison syndrome is a rare genetic syndrome of neonatal diabetes, liver failure, and growth retardation. We present a case with a EIF2AK3 p.(Arg902Ter) mutation, additionally complicated by hypothyroidism, impaired renal function, and exocrine pancreas insufficiency, focusing on clinical management. For its optimization, thorough care of multiple organ systems is needed.

In vitro and in silico assessment of the developability of a designed monoclonal antibody library

Despite major advances in antibody discovery technologies, the successful development of monoclonal antibodies (mAbs) into effective therapeutic and diagnostic agents can often be impeded by developability liabilities, such as poor expression, low solubility, high viscosity and aggregation. Therefore, strategies to predict at the early phases of antibody development the risk of late-stage failure

Association between sleep duration and overweight : The importance of parenting

Objective:Sleep duration has been related to overweight in children, but determinants of sleep duration are unclear. The aims were to investigate the association between sleep duration and childhood overweight adjusted for family characteristics and unhealthy behaviours, to explore determinants of sleep duration and to determine with sleep competing activities.Method:A cross-sectional study was ca

Lateralization of sucrose responsiveness and non-associative learning in honeybees

Lateralization is a fundamental property of the human brain that affects perceptual, motor, and cognitive processes. It is now acknowledged that left-right laterality is widespread across vertebrates and even some invertebrates such as fruit flies and bees. Honeybees, which learn to associate an odorant (the conditioned stimulus, CS) with sucrose solution (the unconditioned stimulus, US), recall t

An approach to scenario analysis of the sustainability of an industrial sector applied to clothing and textiles in the UK

Companies aiming to be 'sustainability leaders' in their sector and governments wanting to support their ambitions need a means to assess the changes required to make a significant difference in the impact of their whole sector. Previous work on scenario analysis/scenario planning demonstrates extensive developments and applications, but as yet few attempts to integrate the 'triple bottom line' co

Full-scale aerobic granular sludge for municipal wastewater treatment – granule formation, microbial succession, and process performance

Aerobic granular sludge (AGS) plants have gained growing interest and application due to their low energy demand, small footprint, and low operational costs. However, the fulfilment of strict discharge limits for nitrogen and phosphorus, vast seasonal temperature variations, and large peaks in influent flows may pose challenges to the implementation of AGS. Moreover, the knowledge about microbial

Galectin-3, a rising star in modulating microglia activation under conditions of neurodegeneration

The advent of high-throughput single-cell transcriptomic analysis of microglia has revealed different phenotypes that are inherently associated with disease conditions. A common feature of some of these activated phenotypes is the upregulation of galectin-3. Representative examples of these phenotypes include disease-associated microglia (DAM) and white-associated microglia (WAM), whose role(s) in

Atrial Fibrillatory Rate Characterization Extracted from Implanted Cardiac Monitor Data

The aim of this study is to characterize atrial fibrillatory rate (AFR) extracted from a cohort of continuously monitored atrial fibrillation (AF) patients as function of episode duration and onset time. The f-wave signal used to compute the AFR was extracted from a single lead ECG strip of the AF episodes stored in an Implantable Cardiac Monitor (ICM) in a cohort of 99 patients. The f-wave signal

Phonetic Methods in Cat Vocalisation Studies: A report from the Meowsic project

In the project Melody in Human–Cat Communication (Meowsic) we are using established phonetic methods to collect, annotate, pre-process and analyse domestic cat–human vocal communication. This article describes these methods, and also presents results of meow vocalisations in four different mental states showing variation in fundamental frequency (f0).

Reflection and transmission properties of wooden wall/floor building elements

Various modal methods are frequently used to investigate the vibration pattern in construction elements of a building in the low frequency range. The experimental determination of time average transmission and reflection coefficient has been developed for the large scale building structures. In this study, we investigate a mock up of a wall/floor junction. The wave approach is combined with the co

Longitudinal development of fatigue after treatment for childhood cancer : a national cohort study

BACKGROUND: Fatigue is a distressing and prevalent long-term sequela of treatment for childhood cancer, and there is a need for longitudinal studies to investigate the development of fatigue over time. The objective of this study was to calculate growth-curves for the longitudinal development of fatigue after treatment for childhood cancer, and to investigate the effects of biopsychosocial predict

Forecast-based Financing, Early Warning, and Early Action : A Cutting-Edge Strategy for the International Humanitarian Community

Within the Action Plan for Humanitarian Adaptation to Climate Change initiated by the German Federal Foreign Office a new and innovative framework to humanitarian action is developed, the forecast-based financing mechanism. This scientifically based funding system shall enable practitioners and donors to react faster to oncoming natural extreme events, while supporting local communities in adaptin