OBJECTIVE: We describe the neurologic, neuroradiologic, and ophthalmologic phenotype of 1 Swedish and 1 Finnish family with autosomal dominant ataxia-pancytopenia (ATXPC) syndrome and SAMD9L mutations.METHODS: Members of these families with germline SAMD9L c.2956C>T, p.Arg986Cys, or c.2672T>C, p.Ile891Thr mutations underwent structured interviews and neurologic and ophthalmologic examinations. Neu

The aim of the article is, according to the author, to present history of philosophy (and philoso-phy of history) in terms of the British analytical tradition. Rejection of metahistorical purpose accounts for the importance of transdisciplinary analysis in the effort to make sense of historicism; thus, inner “duality” of historiography becomes vital for combining individual and “objective” sides o

Soft tissue angiofibroma is rare and has characteristic histomorphological and genetic features. For diagnostic purposes, there are no specific antibodies available. Fourteen lesions (6 females, 8 males; age range 7-67 years) of the lower extremities (12) and trunk (2) were investigated by immunohistochemistry, including for the first time NCOA2. NCOA2 was also tested in a control group of other s

The synthesis and characterization of N-(2-((7-chloroquino-lin-4-yl)amino)ethyl)pyrazine-2-carboxamide (L), an aminoquinoline – pyrazinamide hybrid, and the complexes (N-(2-((7-chloroquino-lin-4-yl)amino)ethyl)pyrazine-2-carboxamide)(cyclopentadienyl) chlorido-rhodium or iridium hexafluorophosphate ([M(L)(Cp*)Cl] PF6; M = Rh, Ir) and the corresponding chlorido salts ([M(L)(Cp*) Cl]Cl; M = Rh, Ir)

Methods for simple and fast detection and differentiation of bacterial species are required, for instance, in medicine, water quality monitoring, and the food industry. Here, we have developed a novel label array method for the counting and differentiation of bacterial species. This method is based on the nonspecific interactions of multiple unstable lanthanide chelates and selected chemicals with

The insufficient operational stability of amine transaminases (ATA) constitutes a limiting factor for high productivity in chiral amine synthesis. In this work, we investigated the operational stability of a tetrameric ATA with 92% sequence identity to a Pseudomonas sp. transaminase and compared it to the two commonly used dimeric ATAs from Chromobacterium violaceum and Vibrio fluvialis. In the pr

Objective: This study evaluates the effect of food intake on 92 neurological biomarkers in plasma. Moreover, it investigated if any of the biomarkers were correlated with body mass index. Materials and Methods: Twenty-two healthy subjects (11 male and 11 female aged 25.9 ± 4.2 years) were investigated. A total of 92 biomarkers were measured before a standardized meal as well as 30 and 120 min afte

Our interest in this paper is to explore limit theorems for various geometric functionals of excursion sets of isotropic Gaussian random fields. In the past, asymptotics of nonlinear functionals of Gaussian random fields have been studied [see Berman (Sojourns and extremes of stochastic processes, Wadsworth & Brooks, Monterey, 1991), Kratz and León (Extremes 3(1):57–86, 2000), Kratz and León (

In this paper, we shall be concerned with geometric functionals and excursion probabilities for some nonlinear transforms evaluated on Fourier components of spherical random fields. In particular, we consider both random spherical harmonics and their smoothed averages, which can be viewed as random wavelet coefficients in the continuous case. For such fields, we consider smoothed polynomial transf

In this note, we investigate the behaviour of suprema for band-limited spherical random fields. We prove upper and lower bound for the expected values of these suprema, by means of metric entropy arguments and discrete approximations; we then exploit the Borell–TIS inequality to establish almost sure upper and lower bounds for their fluctuations. Band limited functions can be viewed as restriction

In this work we consider infinite dimensional extensions of some finite dimensional Gaussian geometric functionals called the Gaussian Minkowski functionals. These functionals appear as coefficients in the probability content of a tube around a convex set D⊂RkD⊂Rk under the standard Gaussian law N(0,Ik×k)N(0,Ik×k). Using these infinite dimensional extensions, we consider geometric properties of so

Accumulating evidence demonstrates an association between dense infiltration of lymphocytes and prognosis in colorectal cancer (CRC), but whether this prognostic impact differs by tumour location remains unknown. This study investigated the prognostic impact of cytotoxic and regulatory T cells in CRC, with particular reference to the anatomical subsite of the primary tumour. The density of CD3+, C

Flexibla och ekonomiska system för eldrift av vägfordon är ett område med aktiv utveckling och forskning.Denna rapport tillämpar sådana system för drift av stadsbussar i Linköping. En programvara försimulering och ekonomisk optimering av sådana system har använts och några systemkonstruktionerpresenteras. Programvaran utvecklades i ett tidigare projekt på LTH. De testade systemen skiljer sig ivaleFlexible and economic systems for electric operation of road vehicles is an area of interest for researchand development. This report applies such systems to the operation of city buses in Linköping. An LTHdeveloped software for simulations and economic optimizations of such systems is used and a few systemdesigns are presented. The tested systems differ in selection of bus lines and the type of c

We review the results of silicon measurements, which we have performed on suboxide SiOx formed on n and p type Si wafers with different surface textures. Localized vibrational modes through Raman and FTIR, light emission properties by photoluminescence (PL), energy critical points for optical transitions, excited state dynamics and non-linear electrical properties can be used as effective methods

This paper is about line search for the generalized alternating projections (GAP) method. This method is a generalization of the von Neumann alternating projections method, where instead of alternating projections, relaxed projections are alternated. The method can be interpreted as an averaged iteration of a nonexpansive mapping. Therefore, a recently proposed line search method for such algorith