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Lysosomal glucocerebrosidase (GBA1) deficiency is causative for Gaucher disease. Not all individuals with GBA1 mutations develop neurological involvement raising the possibility that other factors may provide compensatory protection. One factor may be the activity of the non-lysosomal beta-glucosidase (GBA2) which exhibits catalytic activity towards glucosylceramide and is reported to be highly ex

Diabetes is a much more heterogeneous disease than the present subdivision into types 1 and 2 assumes; type 1 and type 2 diabetes probably represent extremes on a range of diabetic disorders. Both type 1 and type 2 diabetes seem to result from a collision between genes and environment. Although genetic predisposition establishes susceptibility, rapid changes in the environment (ie, lifestyle facto

Organic semiconductors usually demonstrate crystal structure dependent electronic properties, and through precise control of film structure, the performance of novel organic electronic devices can be greatly improved. Understanding the crystal structure dependent charge-transfer mechanism thus becomes critical. In this work, we have prepared amorphous titanyl phthalocyanine films by vacuum molecul

The sphingosine 1-phosphate receptor 1 (S1P1) is abundant in endothelial cells, where it regulates vascular development and microvascular barrier function. In investigating the role of endothelial cell S1P1 in adult mice, we found that the endothelial S1P1 signal was enhanced in regions of the arterial vasculature experiencing inflammation. The abundance of proinflammatory adhesion proteins, such

Abstract in UndeterminedIn a 16-year-old boy with hemiplegia and severe, intractable epilepsy after a neonatal cerebral ischemic insult, cortical motor control was only equivocally assessed by functional magnetic resonance imaging. Therefore, high-precision navigated transcranial magnetic stimulation was performed, which demonstrated that cortical control of muscles on the paretic side was selecti

To evaluate any potential correlation between anti-tissue transglutaminase antibodies of type immunoglobulin A (tTG-IgA) and the degree of gluten induced enteropathy in children participating in a screening study for celiac disease (CD) and to assess to what extent the revised ESPGHAN (European Society for Paediatric Gastroenterology, Hepatology and Nutrition) guidelines cover this group of patien

This longitudinal study investigates the association between C-reactive protein (CRP), osteoporosis, fractures, and mortality in 1044 elderly women. CRP was not an indicator for low bone mineral density (BMD), bone loss, or fracture in elderly women; however, women with elevated CRP levels over a prolonged period lost more bone over the 10-year follow-up, although fracture risk was not increased.

Biogenic volatile organic compounds (BVOCs) emitted by vegetation play an important role for aerosol mass loadings since the oxidation products of these compounds can take part in the formation and growth of secondary organic aerosols (SOA). The concentrations and properties of BVOCs and their oxidation products in the atmosphere are poorly characterized, which leads to high uncertainties in model

Cloud simulations and cloud-climate feedbacks in the tropical and subtropical eastern Pacific region in 16 state-of-the-art coupled global climate models (GCMs) and in the International Pacific Research Center (IPRC) Regional Atmospheric Model (iRAM) are examined. The authors find that the simulation of the present-day mean cloud climatology for this region in the GCMs is very poor and that the cl

The diffusion behavior of the conjugated polyelectrolyte poly{[9,9-bis(6'-N,N,N-trimethylammonium)hexyl]fluorene-phenylene) bromide (HTMA-PFP) with different molecular weights has been studied in dimethyl sulfoxide (DMSO) + water solutions. Samples of HTMA-PFP with various molecular weights were obtained by synthesis of poly[9,9-bis(6'-bromohexyl)fluorene-phenylene] via a Suzuki coupling reaction,

Introduction: Depression is frequent in ankylosing spondylitis (AS) patients. However, epidemiological data about the potential increase in risk are lacking. This study compares the rate of doctor-diagnosed depression in a well defined cohort of AS patients to the general population seeking care. Methods: The Skane Healthcare Register comprises healthcare data of each resident in Region Skane, Swe

Purpose – Despite a growing interest in both women and university academic entrepreneurship, there are very few studies addressing women's academic entrepreneurship. The authors address this gap by focusing on university incubators for women's academic entrepreneurship. The purpose of this paper is to examine and analyze the significance of university incubators for the promotion and development o

Flow coefficients nu(n) for n = 2, 3, 4, characterizing the anisotropic collective flow in Au + Au collisions at root s(NN) = 200 GeV, are measured relative to event planes Psi(n), determined at large rapidity. We report nu(n) as a function of transverse momentum and collision centrality, and study the correlations among the event planes of different order n. The nu(n) are well described by hydrod

In this paper, we present results of optical simulations on the absorption of nanowires. The simulation was performed with rigorous coupled wave analysis to determine the potential of nanowires for use in a new kind of nanostructured solar cell. The overall absorption of the solar cell structure was calculated for four different diameters of the nanowires and also in dependence of light wavelength

Cancer of unknown primary (CUP) is diagnosed at the metastatic stage and despite extensive diagnostic work-up the primary tumor often remains unidentified. Limited population-based survival data are available for metastatic location and none are available that link the location with the cause of death, which might give clues about the tissue of origin. A total of 9,306 CUP patients with extranodal

Objectives: Socio-economic and occupational factors may contribute to risk of immune-mediated disorders. The importance of these factors in giant cell arteritis (GCA) is unknown. This is the first nationwide study with the aim of investigating possible associations between socio-economic status (SES)/occupation and hospitalization for GCA. Method: A nationwide database was constructed by linking S

Andersen-Tawil syndrome (ATS) is a rare inherited multisystem disorder associated with mutations in KCNJ2 and low prevalence of life-threatening ventricular arrhythmias. Our aim was to describe the clinical course of ATS in a family, in which the proband survived aborted cardiac arrest (ACA) and genetic screening revealed a previously unknown mutation (c.271_282del12[p.Ala91_Leu94del]) in the KCNJ

INTRODUCTION: The indication for breast reduction in a public welfare or an insurance paid setting depends on the severity of the subjective symptoms and the clinical evaluation. The purpose of this study was to evaluate the use of breast volume as an objective criterion to establish the indication for breast reduction surgery, thus establishing a standard decision basis that can be shared by surg