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Nonsense mutations in FGF16 have recently been linked to X-linked recessive hand malformations with fusion between the fourth and the fifth metacarpals and hypoplasia of the fifth digit (MF4; MIM#309630). The purpose of this study was to perform careful clinical phenotyping and to define molecular mechanisms behind X-linked recessive MF4 in three unrelated families. We performed whole-exome sequen

The current control design development process in automotive industry and elsewhere involves many expensive experiments and hand-tuning of control parameters. Model based control design is a promising approach to reduce costs and development time. In this process low complexity models are essential and model reduction methods are very useful tools. This thesis combines the areas of modeling and mo

The variability of health complaints within individuals across time has rarely been studied, and the question whether between- and within-person factor structures of health-related variables are equivalent has not been tested so far. We examined self-reported health complaints in 101 younger (20-31 years) and 103 older adults (65-80 years) over a period of 100 daily assessments. Data were analyzed

Nanoscale contacts between metals and semiconductors are critical for further downscaling of electronic and optoelectronic devices. However, realizing nanocontacts poses significant challenges since conventional approaches to achieve ohmic contacts through Schottky barrier suppression are often inadequate. Here we report the realization and characterization of low n-type Schottky barriers (~0.35 e

In this paper, we explore positivity preserving model reduction. The reduction is performed by truncating the states of the original system without balancing in the classical sense. This may result in conservatism, however, this way the physical meaning of the individual states is preserved. The reduced order models can be obtained using simple matrix operations or using distributed optimization m

Body position changes (BPCs) are manifested as shifts in the electrical axis of the heart, which may lead to ST changes in the ECG, misclassified as ischemic events. This paper presents a novel BPC detector based on a Laplacian noise model. It is assumed that a BPC can be modelled as a step-like change in the two coefficient series that result from the Karhunen-Loeve transform of the QRS complex a

Milk protein intake has recently been suggested to improve metabolic health. This Perspective provides evidence that metabolic effects of milk protein intake have to be regarded in the context of the individual's pre-existing metabolic and exercise status. Milk proteins provide abundant branched-chain amino acids (BCAAs) and glutamine. Plasma BCAAs and glutamine are increased in obesity and insuli

Rational drug design is predicated on knowledge of the three-dimensional structure of the protein-ligand complex and the thermodynamics of ligand binding. Despite the fundamental importance of both enthalpy and entropy in driving ligand binding, the role of conformational entropy is rarely addressed in drug design. In this work, we have probed the conformational entropy and its relative contributi

Abstract in UndeterminedInside a tunnel, electromagnetic wave propagation differs strongly from the well understood "open-air" situation. The characterization of the tunnel environment is crucial for deploying vehicular communication systems. In this paper we evaluate vehicle-to-vehicle (V2V) radio channel measurements inside a tunnel. We estimate the time-varying root mean square (rms) delay and

Background: Since barrier protection measures to avoid contact with allergens are being increasingly developed, we assessed the clinical efficacy and tolerability of a topical nasal microemulsion made of glycerol esters in patients with allergic rhinitis. Methods: Randomized, controlled, double-blind, parallel group, multicentre, multinational clinical trial in which adult patients with allergic r

Flow-pattern based heat transfer correlations for elongated bubbly flow and annular flow in stable flow boiling micro/minichannels were developed separately based on a collected micro/minichannel heat-transfer database by using an improved conventional-to-micro/minichannel threshold Bo = 4 and BoRel0.5 = 200, where Bo is the Bond number and Rel is the liquid Reynolds number. As significant disagre

This study traces the history of publishers’ cloth-bindings in Sweden, and places them in relation to the emergence of modernity. The interaction between techno-logy, economics and aesthetics is central to the analysis, in which a sociological approach is combined with per-spectives of book history and material culture studies. • The study consists of two parts: Book culture in transit-ion, mainly

Due to increased awareness of climate change and higher energy costs, well‐insulated buildings have become more common. Furthermore, the interests of using wood in building to produce more carbon dioxide‐efficient houses have increased. However, thicker thermal insulation in walls increases the risk of high relative humidity levels and the risk of mould‐related damage in Wood frame houses. In orde

Physical activity and healthcare utilization has negative association. However, there appears to be limited knowledge of how this association is affected by self-rated health (SRH) and socio-economic status (SES). Therefore, the aim of this study was to examine the association between leisure-time physical activity (LTPA) and healthcare utilization, and investigate how SRH, gender, age and SES aff

One of the more fascinating phenomena in nature is animal mass migrations and in oceans and freshwaters, diel variations in depth distribution of zooplankton are a phenomenon that has intrigued scientists for more than a century. In our study, we show that zooplankton are able to assess the threat level of ultraviolet radiation and adjust their depth distribution to this level at a very fine tuned

Popular Abstract in Swedish Bakgrund Den kroniska ögonsjukdomen grön starr (glaukom) skadar ögats synnerv och påverkar den perifera synen (synfältet) hos de som drabbas. I västvärlden är grön starr den näst vanligaste orsaken till blindhet enligt Världshälsoorganisationen WHO. I Sverige räknar man med att cirka 70 000 personer över 70 år har grön starr, men att endast hälften av dessa är kända förThis thesis addresses several aspects of glaucoma diagnostics from both a clinical and a screening perspective. New instruments for diagnosing glaucoma have been developed over the past years, but little information is available regarding their performance as screening methods and their usefulness in ordinary clinical practice. Purpose of the research underlying this thesis The objectives of the

In this paper we present a systematic study of the morphology and composition of supported lipid bilayers (SLBs) formed by vesicle fusion using a wide variety of surface sensitive techniques that give information about the lateral as well as vertical structure and bilayer fluidity. SLBs of 1-palmitoyl-2-oleoyl-sn-glycero-3-phosphocholine (POPC) and 1,2-dipalmitoyl-sn-glycero-3-phosphocholine (DPPC