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Neurology of inherited glycosylation disorders

Congenital disorders of glycosylation comprise most of the nearly 70 genetic disorders known to be caused by impaired synthesis of glycoconjugates. The effects are expressed in most organ systems, and most involve the nervous system. Typical manifestations include structural abnormalities (eg, rapidly progressive cerebellar atrophy), myopathies (including congenital muscular dystrophies and limb-g

Long-term anti-FVIII antibody response in Bethesda-negative haemophilia A patients receiving continuous replacement therapy.

It has previously been shown that patients with haemophilia A may develop non-neutralizing anti-factor VIII (FVIII) antibodies (NNA) that escape detection by the Bethesda assay, but are detected using immune-based assays. We and others found NNAs to be directed not only towards non-functional parts of the protein, but towards all regions of the FVIII protein. We also showed a heterogeneous antibod

The impact of sperm DNA damage in assisted conception and beyond: recent advances in diagnosis and treatment

Sperm DNA damage is a useful biomarker for male infertility diagnosis and prediction of assisted reproduction outcomes. It is associated with reduced fertilization rates, embryo quality and pregnancy rates, and higher rates of spontaneous miscarriage and childhood diseases. This review provides a synopsis of the most recent studies from each of the authors, all of whom have major track records in

Incretin dysfunction in type 2 diabetes: Clinical impact and future perspectives.

The incretin effect refers to the augmentation of insulin secretion after oral administration of glucose compared with intravenous glucose administration at matched glucose levels. The incretin effect is largely due to the release and action on beta-cells of the gut hormones glucose-dependent insulinotropic polypeptide (GIP) and glucagon-like peptide-1 (GLP-1). This system has in recent years had

Spotting Trees with Few Leaves

We show two results related to the Hamiltonicity and k -Path algorithms in undirected graphs by Björklund [FOCS’10], and Björklund et al., [arXiv’10]. First, we demonstrate that the technique used can be generalized to finding some k-vertex tree with l leaves in an n-vertex undirected graph in O∗(1.657^k2^{l/2}) time. It can be applied as a subroutine to solve the k -Internal Spanning Tree (k-IST)

The natural history of multiple system atrophy: a prospective European cohort study

Background Multiple system atrophy (MSA) is a fatal and still poorly understood degenerative movement disorder that is characterised by autonomic failure, cerebellar ataxia, and parkinsonism in various combinations. Here we present the final analysis of a prospective multicentre study by the European MSA Study Group to investigate the natural history of MSA. Methods Patients with a clinical diagno

Towards obtaining Green functions for a Casimir cavity in de Sitter spacetime

Recent work in the literature has studied rigid Casimir cavities in a weak gravitational field, or in de Sitter spacetime, or yet other spacetime models. The present review paper studies the difficult problem of direct evaluation of scalar Green functions for a Casimir-type apparatus in de Sitter spacetime. Working to first order in the small parameter of the problem, i.e. twice the gravity accele

The Underbelly of Canadian Multiculturalism : Holocaust Obfuscation and Envy in the Debate about the Canadian Museum for Human Rights

This essay contextualises the recent controversy about the Canadian Museum for Human Rights (CMHR), which opened in September 2014 in Winnipeg, Manitoba, by documenting the background shadowing the campaigns spearheaded by the Ukrainian Canadian Civil Liberties Association and the Ukrainian Canadian Congress against CMHR advisory board plans to install a permanent gallery devoted to the Holocaust.

Osmotic pumping release from ethyl-hydroxypropyl-cellulose-coated pellets: A new mechanistic model.

A new mechanistic model of drug release by osmotic pumping and diffusion from pellets coated with a semipermeable film developing pores created by the leaching of water-soluble compounds initially present in the coating, has been developed. The model describes dynamically all the main processes occurring during release, i.e. the inflow of solvent driven by the difference in osmotic pressure across

On a generalized matrix approximation problem in the spectral norm

Abstract in UndeterminedIn this paper theoretical results regarding a generalized minimum rank matrix approximation problem in the spectral norm are presented. An alternative solution expression for the generalized matrix approximation problem is obtained. This alternative expression provides a simple characterization of the achievableminimum rank, which is shown to be the same as the optimal obje

Parameter estimation approach to banding artifact reduction in balanced steady-state free precession

Purpose: The balanced steady-state free precession (bSSFP) pulse sequence has shown to be of great interest due to its high signal-to-noise ratio efficiency. However, bSSFP images often suffer from banding artifacts due to off-resonance effects, which we aim to minimize in this paper. Methods: We present a general and fast two-step algorithm for 1) estimating the unknowns in the bSSFP signal model

High precision astrometry mission for the detection and characterization of nearby habitable planetary systems with the Nearby Earth Astrometric Telescope (NEAT)

A complete census of planetary systems around a volume-limited sample of solar-type stars (FGK dwarfs) in the Solar neighborhood (d a parts per thousand currency signaEuro parts per thousand 15 pc) with uniform sensitivity down to Earth-mass planets within their Habitable Zones out to several AUs would be a major milestone in extrasolar planets astrophysics. This fundamental goal can be achieved w

Active Vitamin D (1,25-Dihydroxyvitamin D) and Bone Health in Middle-Aged and Elderly Men: The European Male Aging Study (EMAS).

Context:There is little information on the potential impact of serum 1,25-dihydroxyvitamin D [1,25(OH)(2)D] on bone health including turnover.Objective:The objective of the study was to determine the influence of 1,25(OH)(2)D and 25-hydroxyvitamin D [25(OH)D] on bone health in middle-aged and older European men.Design, Setting, and Participants:Men aged 40-79 years were recruited from population r

Monitoring fibrinolysis in whole blood by viscoelastic instruments: A comparison of ROTEM and ReoRox.

Objective. Increased fibrinolysis with the risk of bleeding is a consequence of thrombolytic therapy and can also be seen in clinical situations such as acute trauma. Thrombelastography and thrombelastometry are viscoelastic coagulation instruments that can detect higher degrees of fibrinolysis; hyperfibrinolysis. A newer viscoelastic instrument is the ReoRox, which uses free oscillation rheometry

Parallel Chains of Command in European Union Operation Headquarters: An Experimental Study of the Drivers behind National Perspectives

The European Union (EU) military Operation Headquarters (OHQ) construct has been described as a slow starter due to familiarization issues and an arena for parallel chains of command. Similarly, a recent study of a live OHQ showed national perspectives to be common, particularly with staff members from nations prominent in the operation. However, the nature of these flaws remains unclear while sch

Per-Vertex Defocus Blur for Stochastic Rasterization

We present user-controllable and plausible defocus blur for a stochastic rasterizer. We modify circle of confusion coefficients per vertex to express more general defocus blur, and show how the method can be applied to limit the foreground blur, extend the in-focus range, simulate tilt-shift photography, and specify per-object defocus blur. Furthermore, with two simplifying assumptions, we show th

Occupational Balance in People with Schizophrenia

The aim of this study was to illuminate the concept of occupational balance and to study its relation to occupational engagement as assessed by the POES, health related factors, and quality of life among 72 persons with schizophrenia. Three constructs: being under-occupied, being over-occupied, and having occupational balance, were developed to help assess occupational balance. The inter-reliabili

Porosity and Surface Properites of SBA-15 with Grafted PNIPAAM: A Water Sorption Calorimetry Study

Mesoporous silica SBA-15 was modified in a three-step process to obtain a material with poly-N-isopropylacrylamide (PNIPAAM) grafted onto the inner pore surface. Water sorption calorimetry was implemented to characterize the materials obtained after each step regarding the porosity and surface properties. The modification process was carried out by (i) increasing the number of surface silanol grou

Coronal lines and the importance of deep-core-valence correlation in Ag-like ions

We report on large-scale and critically evaluated ab initio multiconfiguration Dirac-Hartree-Fock calculations of the wavelength and transition rate of the "coronal," M1 transition 4f F-2(5/2)o-F-2(7/2)o in Ag-like ions. The transition between these two fine-structure levels, which makes up the ground term for Z >= 62 in the isoelectronic sequence, has recently been observed in Yb23+ and W27+, whe

Stretching capabilities: children with disabilities playing TV and computer games

Intervention studies show that if children with disabilities play motion-controlled TV and computer games for training purposes their motivation increases and their training becomes more intensive, but why this happens has not been explained. This article addresses this question with the help of ethnographic material from a public project in Sweden. By applying interactional constructionism to det