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Hereditary myopathy with early respiratory failure and extensive myofibrillar lesions has been described in sporadic and familial cases and linked to various chromosomal regions. The mutated gene is unknown in most cases. We studied eight individuals, from three apparently unrelated families, with clinical and pathological features of hereditary myopathy with early respiratory failure. The investi
Many empirical studies of the economics of crime focus solely on the determinants thereof, and do not consider the dynamic and cross-sectional properties of their data. As a response to this, the current paper offers an in-depth analysis of this issue using data covering 21 Swedish counties from 1975 to 2010. The results suggest that the crimes considered are non-stationary, and that this cannot b
In this article I argue that On Suffocation relies on paratexts in order to articulate what I take to be its most important message. I foreground a few of these paratexts, especially Facebook postings and a festival Q&A session, in order to illustrate how they contribute to the film’s meaning.
The World Health Organization (WHO) classification of myeloid leukaemia was revised in 2008. It incorporates newly recognized entities and emphasizes the pivotal role of cytogenetic abnormalities. The aim of this study was to evaluate the usability of the WHO classification when applied to a large population-based paediatric acute myeloid leukaemia (AML) cohort. We included children diagnosed with
Deficiencies in the classical pathway of complement activation have some common features but show also great differences. Deficiencies of each of the components (C1q, C1s, C1r, C4 and C2) imply increased susceptibility to bacterial infections. They are also associated with increased risk to develop systemic lupus erythematosus where deficiency of C1q is strongly associated to the disease while C4
Chalcopyrite structures are candidates for efficient intermediate-band solar cells in thin-film technology. Here, we examine a material combination of CuInSe2 dots embedded in CuGaS2 matrix and show that epitaxial growth leads to distinctive tetrahedral nanostructures. Our model calculations provide us with the optimal nanodot size to reach the maximum efficiency-in principle up to 61%. The optima
We answer a question by Judith Packer about the irreducibility of the wavelet representation associated to the Cantor set. We prove that if the QMF filter does not have constant absolute value, then the wavelet representation is reducible.
Alternating aromatic multiblock copolymers have been structurally designed to enable selective lithiation and subsequent anionic graft polymerization from only one of the two block types. The multiblock copolymers were prepared by coupling polyfluoroether (PFE) and polysulfone (PSU) precursor blocks under mild conditions. The judicious combination of blocks allowed for block selective lithiation o
Inelastic x-ray scattering spectra excited at the 1s(-1) pi* resonance of gas phase O-2 have been recorded with an overall energy resolution that allows for well-resolved vibrational progressions. The nuclear wave packet dynamics in the intermediate state is reflected in vibrational excitations of the electronic ground state, and by fine-tuning the excitation energy the dissociation dynamics in th
1. State space models are starting to replace more simple time series models in analyses of temporal dynamics of populations that are not perfectly censused. By simultaneously modelling both the dynamics and the observations, consistent estimates of population dynamical parameters may be obtained. For many data sets, the distribution of observation errors is unknown and error models typically chos
Introduction. Manual delineation of the left ventricle is clinical standard for quantification of cardiovascular magnetic resonance images despite being time consuming and observer dependent. Previous automatic methods generally do not account for one major contributor to stroke volume, the long-axis motion. Therefore, the aim of this study was to develop and validate an automatic algorithm for ti
Understanding spatial connections between breeding and wintering populations is critical for developing sound conservation plans in migratory animals. However, for long-distance migratory songbird species wintering in sub-Saharan Africa, many of which are in a state of population decline, information on migratory connectivity is especially lacking. We used mitochondrial DNA data from wintering pop
Involving users in the design process is increasingly discussed as the quickest and most reliable way to capture the needs of users and consumers. In parallel, the fastest growing population segment in Asia and the West is older people. This article asks whether their involvement in the design process could accelerate a growing service market and if so, how? It addresses a knowledge gap that const
Absolute cerebral perfusion parameters were obtained by dynamic susceptibility contrast magnetic resonance imaging (DSC-MRI) carried out using different contrast-agent administration protocols. Sixteen healthy volunteers underwent three separate DSC-MRI examinations each, receiving single-dose (0.1mmol/kg b.w.) gadobutrol, double-dose gadobutrol and single-dose gadobenate-dimeglumine on different
Background: Outcome measures can be used to improve the quality of the rehabilitation by identifying and understanding which variables influence the outcome. This information can be used to improve outcomes for clients. In clinical practice, pure-tone audiometry, speech reception thresholds (SRTs), and speech discrimination scores (SDSs) in quiet or in noise are common assessments made prior to he
Multiple rotation averaging is an important problem in computer vision. The problem is challenging because of the nonlinear constraints required to represent the set of rotations. To our knowledge no one has proposed any globally optimal solution for the case of simultaneous updates of the rotations. In this paper we propose a simple procedure based on Lagrangian duality that can be used to verify
The extent to which low-frequency (minor allele frequency (MAF) between 1-5%) and rare (MAF ≤ 1%) variants contribute to complex traits and disease in the general population is mainly unknown. Bone mineral density (BMD) is highly heritable, a major predictor of osteoporotic fractures, and has been previously associated with common genetic variants, as well as rare, population-specific, coding vari
Current proteomic technologies can effectively be used to study the proteins of the vitreous body and retina in health and disease. The use of appropriate samples, analytical platform and bioinformatic method are essential factors to consider when undertaking such studies. Certain proteins may hinder the detection and evaluation of more relevant proteins associated with pathological processes if n
Ferrochelatase catalyzes the insertion of Fe(2+) into protoporphyrin IX. The enzymatic product heme (protoheme IX) is a well-known cofactor in a wide range of proteins. The insertion of metal ions other than Fe(2+) occurs rarely in vivo, but all ferrochelatases that have been studied can insert Zn(2+) at a good rate in vitro. Co(2+), but not Cu(2+), is known to be a good substrate of the mammalian
