The mutations of 76 haemophilia B patients representing the whole population registered with the Malmö haemophilia centre (42) and referrals from the UK, were characterised. RFLP haplotype analysis of the defective genes indicated that 51 single base pair substitutions were definitely of independent origin and 27 of these were CpG----TpG or CpA transitions. This represents a 38-fold excess over ot

Cartier identification and antenatal diagnosis were performed in 2 sisters by electrophoretic separation of the normal and abnormal bands obtained after amplification of a fragment of exon h in the factor IX gene. The mutation in the family had been characterised as an 8-base pair (bp) deletion in exon h. By amplification of a 326 bp fragment containing the site of deletion, the shorter 318 bp ban

At Helmholtz-Zentrum Berlin (HZB) the end-station PEAXIS (Photo Electron Analysis and X-ray resonant Inelastic Spectroscopy) combining Angle-dependent X-ray Photoelectron Spectroscopy (AdXPS) and Resonant Inelastic X-ray Scattering (RIXS) is currently built. The latter method uses a spherical variable line space (VLS) grating to focus the beam onto the detector. Working in first-order diffraction

OBJECTIVE: To describe the lived experience of being a homebirth midwife in the Nordic countries.METHODS: Interviews conducted with 21 homebirth midwives from the five Nordic countries were analyzed with a phenomenological approach.RESULTS: The essential structure of being a homebirth midwife in the Nordic countries can be understood as realizing altruistic values and fulfilling one's own desires

Post-traumatic Stress Disorder (PTSD) is a syndrome defined by the intrusive re-experiencing of a trauma, avoidance of traumatic reminders, and persistent physiological arousal. PTSD is associated with high levels of comorbidity and may increase the risk for additional disorders over time. While controversies remain regarding the applicability of the PTSD criteria to very young children, it has pr

The role of increased dispersion of repolarization in the genesis of torsade de pointes and ventricular fibrillation has been well recognized generally, but not in the genesis of monomorphic ventricular tachycardia (VT). Monophasic action potentials (MAP) were therefore recorded simultaneously from the right ventricular (RV) apex (RVA) and outflow tract (RVOT) during sinus rhythm, RV pacing and pr

An experiment that aims to measure the π- photoproduction cross-section σ(E) on the deuteron γ + 2H → π- + 2p near threshold is discussed. The main concepts of the experimental technique are presented alongside some preliminary signals.

We study the problem of decomposing a measured signal as a sum of decaying exponentials. There is a direct connection to sums of these types and positive semi-definite (PSD) Hankel matrices, where the rank of these matrices equals the number of exponentials. We propose to solve the identification problem by forming an optimization problem with a misfit function combined with a rank penalty functio

A method for optimization of PID controller parameters and measurement filter time constant is presented. The method differs from the traditional approach in that the controller and filter parameters are simultaneously optimized, as opposed to standard, sequential, design. Control performance is maximized through minimization of the integrated absolute error (IAE) caused by a unit step load distur

The genus Bicyclus is one of the largest groups of African butterflies, but due to the generally cryptic nature and seasonal variation of adult wing patterns, there has been a lot of systematic confusion. With a large research community working with the model species Bicyclus anynana there has been increasing interest in the evolutionary history of the genus. A previous phylogeny started to unrave

Antibody-based proteomics offers distinct advantages in the analysis of complex samples for discovery and validation of biomarkers associated with disease. However, its large-scale implementation requires tools and technologies that allow development of suitable antibody or antibody fragments in a high-throughput manner. To address this we designed and constructed two human synthetic antibody frag

Severe cerebral intraventricular hemorrhage (IVH) in preterm infants continues to be a major clinical problem, occurring in about 15-20% of very preterm infants. In contrast to other brain lesions the incidence of IVH has not been reduced over the last decade, but actually slightly increased. Currently over 50% of surviving infants develop post-hemorrhagic ventricular dilatation and about 35% deve

Background While effective vocational methods for gaining employment exist for people with schizophrenia and similar conditions, no evidence exists with regard to people with affective disorders. We aimed to study the effectiveness of a newly developed Individual Enabling and Support (IES) model adapted for the target group and compared to traditional vocational rehabilitation (TVR). Methods An as

Background: Parkinson's disease (PD) diagnosis is mainly based on clinical criteria, with a high risk of misdiagnosis. The identification of reliable biomarkers for disease diagnosis and progression has a key role for developing disease-modifying therapies. In this article, we investigated the longitudinal changes of CSF α-synuclein species in early PD patients and explored the potential use of th

We report growth and characterization of a coupled quantum dot structure that utilizes nanowire templates for selective epitaxy of radial heterostructures. The starting point is a zinc blende InAs nanowire with thin segments of wurtzite structure. These segments have dual roles: they act as tunnel barriers for electron transport in the InAs core, and they also locally suppress growth of a GaSb she

Spores of pathogenic fungi are virtually ubiquitous and cause human disease and severe losses in crops. The endophytic fungi Alternaria species produce host-selective phytotoxins. Alt a 1 is a strongly allergenic protein found in A. alternata that causes severe asthma. Despite the well-established pathogenicity of Alt a 1, the molecular mechanisms underlying its action and physiological function r

The European Spallation Source (ESS), scheduled to start operation in 2020, is aiming to deliver the most intense neutron beams for experimental research of any facility worldwide. Its long pulse time structure implies significant differences for instrumentation compared to other spallation sources which, in contrast, are all providing short neutron pulses. In order to enable the development of me