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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
Serviceability of structures has to be verified for a lower load level than the design load used for safety considerations. Representative values of actions used in serviceability load combinations are often defined in a way that the fraction of time spent above a given load level should be limited to a certain value. To determine these load levels more information on the stochastic nature of the
Background and Purpose - Data regarding the association between blood pressure level and incidence of stroke subtype, especially primary intracerebral hemorrhage (PICH) subtypes, is sparse. This population- based study explored the relationship between blood pressure and the incidence of cerebral infarction, and PICH, with lobar and nonlobar location. Methods - Risk factors were assessed in 27 702
OBJECTIVE: To determine the incidence of acute thrombo-embolic occlusion of the superior mesenteric artery (AOSMA) in a population-based study. MATERIAL: All clinical (n=23,446) and forensic (n=7569) autopsies performed in the city of Malmo between 1970 and 1982 (population 264,000-230,000 inhabitants). The autopsy rate was 87%. METHODS: Calculation of the incidence of AOSMA with intestinal gangre
only using electric-dipole forbidden emission lines, in what we label forbidden-line spectroscopy, we identified several energy levels in cadmium-like tungsten, W26+. The spectrum was recorded at the Shanghai permanentmagnet electron beam ion trap in the visible region. The identifications were supported by large-scale multiconfiguration Dirac-Hartree-Fock calculations which involved careful inves
We studied the evolutionary history of the Parmeliaceae (Lecanoromycetes, Ascomycota), one of the largest families of lichen-forming fungi with complex and variable morphologies, also including several lichenicolous fungi. We assembled a six-locus data set including nuclear, mitochondrial and low-copy protein-coding genes from 293 operational taxonomic units (OTUs). The lichenicolous lifestyle ori
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
Popular Abstract in Swedish Mitt försöksmaterial utgjordes av Festuca ovina, fårsvingel, som är ett mycket vanligt gräs och tillhör familjen Poaceae. Fårsvingel är en perenn korsbefruktare och spridd över den tempererade zonen i Euroasien och Nordamerika. Släktet Festuca är uppdelat i smalbladiga svinglar, dit fårsvingel hör, och bredbladiga svinglar. Släktet Lolium, dit rajgrFestuca ovina, sheep's fescue is a widely distributed perennial outbreeder that belongs to the grass family Poaceae and is very common in the northern temperate zone. The genus Festuca s.l. is partitioned into fine-leaved fescues to which F. ovina belongs, and broad-leaved fescues to which the genus Lolium is a close relative. Wide crosses within the Festuca-Lolium
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
Popular Abstract in Swedish Studierna som presenteras i min avhandling visar att granmonokultur inte är uthålligt skogsbruk i en miljö med högt nedfall av kväve och svavel, som i södra Sverige. Markens näringskapital minskar p g a onaturligt hög tillväxt, orsakad av den höga kvävetillgången, och utlakning p g a markförsurning. När den begränsade tillgången på näring inte motsvarar trädens näringsbThe studies presented in my thesis indicate that growing Norway spruce in monoculture does not constitute sustainable forest management in a high N and S deposition environment, such as in southern Sweden. The combination of N-induced high growth rates and leaching due to soil acidification causes soil reserves of nutrients to decrease. This will increase the risk of nutrient imbalance within the
Currently, the use of metal-backed tibial components is more common than the use of all-polyethylene components in total knee arthroplasty. However, the available literature indicates that all-polyethylene tibial components are not inferior to the metal-backed design. We hypothesized that there would be no difference in the ten-year survival rate between all-polyethylene and metal-backed tibial co
UV-B treatment of thylakoid membranes or fractions derived from them accelerates the first rise (Fo---Fi phase) of variable fluorescence and slows down the second (Fi---Fm) rise. This can be observed for all membrane fractions but to different extents. The grana fraction is affected more by the UV-B treatment than are the intact thylakoids and the stroma lamella fraction. An exogenous electron acc
To find out whether IgG genes are involved in atopy we studied 26 of 101 laboratory technicians who had developed laboratory animal allergy (LAA). The genes for the constant region of the heavy chains of IgG subclasses were analyzed by serum Gm allotypes, representing products on allelic level of the IGHCG1, IGHCG2 and IGHCG3 on chromosome 14q32. There was a significantly increased frequency of th
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,
Low-glycemic index (GI) foods and foods rich in whole grain are associated with reduced risk of type 2 diabetes and cardiovascular disease. We studied the effect of cereal-based bread evening meals (50 g available starch), varying in GI and content of indigestible carbohydrates, on glucose tolerance and related variables after a subsequent standardized breakfast in healthy subjects (n = 15). At br
INTRODUCTION: Low blood pressure (BP) has been found to be associated with cerebrovascular damage in the elderly. Studies of the relation of ambulatory BP to cognitive function in elderly persons aged 80 years or above is lacking, however. METHODS: Ninety-seven 81-year-old men from the population study 'Men born in 1914' underwent ambulatory BP monitoring and were given a cognitive test battery, 7
PURPOSE Cancer of unknown primary (CUP) is diagnosed at the metastatic stage, and despite extensive diagnostic work-up, the primary tumor often remains unidentified. No data are available on familial clustering of CUP. We hypothesize that familial clustering of CUP with other cancers may be informative of the primary sites. PATIENTS AND METHODS A total of 35,168 patients with CUP were identified i
OBJECTIVES: To map by magnetic resonance imaging (MRI) and quantitative MRI (qMRI) concomitant fractures and meniscal injuries, and location and volume of traumatic bone marrow lesions (BMLs) in the acutely anterior cruciate ligament (ACL) injured knee. To relate BML location and volume to cortical depression fractures, meniscal injuries and patient characteristics. METHODS: One hundred and twenty
The Symphony study showed that at 1 year posttransplant, a regimen based on daclizumab induction, 2 g mycophenolate mofetil (MMF), low-dose tacrolimus and steroids resulted in better renal function and lower acute rejection and graft loss rates compared with three other regimens: two with low-doses of cyclosporine or sirolimus instead of tacrolimus and one with no induction and standard cyclospori
