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Cornelia de Lange syndrome (CdLS; OMIM 122470) is a rare multiple congenital anomaly/mental retardation syndrome characterized by distinctive dysmorphic facial features, severe growth and developmental delay and abnormalities of the upper limbs. About 50% of CdLS patients have been found to have heterozygous mutations in the NIPBL gene and a few cases were recently found to be caused by mutations
Sweden’s elderly population is growing, propelled by a continuous decline in old-age mortality, while coupled with a persistent replacement level fertility. This changing age structure increases the per worker cost of providing a given age-vector of per capita benefits, encompassing costs for pensions, health care, and all other type of old-age welfare services, which presents a looming challenge
BACKGROUND: The ankle region is frequently involved in juvenile idiopathic arthritis (JIA) but difficult to examine clinically due to its anatomical complexity. The aim of the study was to evaluate the role of ultrasonography (US) of the ankle and midfoot (ankle region) in JIA. Doppler-US detected synovial hypertrophy, effusion and hyperemia and US was used for guidance of steroid injection and to
Popular Abstract in Swedish Ehrlichia hos människor och djur Fästingburna infektioner uppmärksammas alltmer både hos människor och djur. Fästingar har visat sig kunna överföra flera olika infektiösa agens som till exempel borrelia- och ehrlichiabakterier, tick-borne encephalitis (TBE)-virus och babesia-parasiter. De i Skandinavien förekommande ehrlichia-bakterierna Ehrlichia phagocytophila, orsakEhrlichia phagocytophila is a tick-borne pathogen of domestic animals, which has recently been acknowledged also as a human pathogen. It is a strictly intracellular bacterium, infecting granulocytes of the host, sometimes resulting in clinical disease - granulocytic ehrlichiosis - with manifestations ranging from mild flu-like conditions to severe infections with multi-organ failure and death. Thi
The mechanisms of protein folding and aggregation are investigated by computer simulations of all-atom and reduced models with sequence-based potentials. A quasi local Monte Carlo update is developed in order to efficiently sample proteins in the folded phase. A small helical protein, the B-domain of staphylococcal protein A, is studied using a reduced model. In the thermodynamically favoured topo
By including relevant physical properties in our modeling of a surface adsorbate system we can, from first principles, correctly calculate all experimentally observed features in the vibrational spectrum of CH3CH2O– and CD3CH2O– adsorbed on Cu(100). That is, we reproduce the number of observed modes, the vibrational frequencies, and intensities of the modes including the presence/absence of binary
Mutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the dominantly inherited disorder, Bethlem myopathy. Glycine mutations that interrupt the Gly-X-Y repetitive amino acid sequence that forms the characteristic collagen triple helix have been defined in four families; however, the effects of these mutations on collagen VI biosynthesis, assembly,
To determine the epidemiology and outcome of children with Down syndrome (DS) diagnosed with acute leukaemia in the Nordic countries, data registered in the Nordic Society of Paediatric Haematology and Oncology (NOPHO) population-based leukaemia registry were analysed. Of 3494 children with acute leukaemia diagnosed between July 1984 and December 2001, 136 patients (3.9%) with DS were identified.
Background—The effects of ticagrelor pretreatment in patients with ST-segment–elevation myocardial infarction undergoing primary percutaneous coronary intervention (PCI) is debated. This study investigated the effects of ticagrelor pretreatment on clinical outcomes in this patient group. Methods and Results—Patients with ST-segment–elevation myocardial infarction undergoing primary PCI were includ
Abstract Title: The video surveillance industry in the USA - the future development and the technology shift Seminar date: 4/6 - 2010 Course: FEKP01, Degree Project Graduate Level, Business Administration, Graduate Level, 15 University Credit Points (ECTS-cr) Authors: Johan Lindgren and Marc Palm Mentor: Thomas Kalling Key words: Technology shift, Video surveillance industry, Organizational Learni
High-quality video is being increasingly delivered over Internet Protocol networks, which means that network operators and service providers need methods to measure the quality of experience (QoE) of the video services. In this paper, we propose a method to speed up the development of no-reference bitstream objective metrics for estimating QoE. This method uses full-reference objective metrics, wh
The Binarity at LOw Metallicity (BLOeM) survey is an ESO large programme designed to obtain multi-epoch spectroscopy for 929 massive stars in the Small Magellanic Cloud (SMC). It will provide binary fractions and orbital configurations of binary systems and search for dormant black hole binary candidates (OB+BH). We present projected rotational velocities (v sin i) of all sources, and, using the m
The immune system is of central importance to clear-off pathogens in order to keep an organism healthy. In vertebrates, the Major Histocompatibility Complex (MHC) is a genomic region that holds key genes involved in adaptive immunity and in particular in the antigen presenting process. The presentation relies on MHC class I (MHC-I) and MHC class II (MHC-II) molecules that are encoded by MHC-I and
INTRODUCTION: The incidence of pancreatic cancer is around 5 in 100,000, and the 5-year survival is poor. Pancreatic cancer patients have a high disease-specific burden of symptoms, and palliative chemotherapy has varying side effects. The American Society of Clinical Oncology (ASCO) suggests integrating specialized palliative care (SPC) with standard oncological treatment for pancreatic cancer pa
Evolutionary changes in populations of microbes, such as microalgae, cannot be traced using conventional metabarcoding loci as they lack intraspecific resolution. Consequently, selection and competition processes among strains of the same species cannot be resolved without elaborate isolation, culturing, and genotyping efforts. Bamboozle, a new bioinformatic tool introduced here, scans the entire
PurposeDespite advances in medical care, bacterial meningitis still poses a considerable health issue from a global perspective. An ageing population and increasing development and use of vaccines are likely to affect the incidence and aetiology. The aim of this study was to describe the incidence and aetiology of community-acquired bacterial meningitis (CABM) in our setting, as well as the seroty
Background: Bioresorbable scaffolds have been associated with inferior outcomes compared to contemporary permanent metallic drug-eluting stents (DES) for percutaneous coronary intervention, particularly within the initial years after implantation; however, their long-term performance remains uncertain. This study aimed to evaluate the long-term outcomes of Swedish patients treated with Absorb bior
Objective: To study the difference in incidence and risk of fragility fractures between rheumatoid arthritis (RA) patients followed up early in the disease and the general population in Sweden; and the fracture risk changes in RA patients diagnosed in the 1990s and 2000s because of earlier, more potent pharmacological treatment in the later period. Method: Patients with early RA were recruited fro
