Ollier disease and Maffucci syndrome are non-hereditary skeletal disorders characterized by multiple enchondromas (Ollier disease) combined with spindle cell hemangiomas (Maffucci syndrome). We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage

Many plants are adapted to an eroded landscape with a large proportion of virgin soil. Open and disturbed soils are today almost only restricted to agricultural fields with high loads of fertilizers. We conducted a pot experiment in order to investigate growth and nutritional constraints of one calcicole species, Anisantha (syn. Bromus) tectorum, and one calcifuge species, Rumex acetosella, in dec

Appropriately designing the proposal kernel of particle filters is an issue of significant importance, since a bad choice may lead to deterioration of the particle sample and, consequently, waste of computational power. In this paper we introduce a novel algorithm adaptively approximating the so-called optimal proposal kernel by a mixture of integrated curved exponential distributions with logisti

Objective: This study aimed to evaluate the outcome and predisposing factors related to perioperative bleeding in patients treated with endovascular aneurysm repair (VAR) for ruptured and non-ruptured abdominal aortic aneurysm (AAA). Design: This was a retrospective cohort study. Methods: A total of 525 consecutive patients (73% elective) with AAA underwent EVAR at two vascular centres from 2008 t

Purpose. To investigate if testicular cancer survivors (TCSs) have a higher incidence of work loss compared with the population, accounting for stage, treatment and relapse.Material and methods. A cohort of 2146 Swedish TCSs diagnosed 1995-2007 (seminoma n = 926, non-seminoma n = 1220) was identified in the SWENOTECA (Swedish-Norwegian Testicular Cancer Group) register, and matched 1:4 to populati

Would slightly better performance be significantly more valuable from a market perspective? Would significantly better performance be just slightly more expensive to implement? When dealing with performance, usability, reliability, and so on, you often end up in difficult trade-off analysis. You must take into account aspects such as release targets, end-user experience, and business opportunities

A measurement of dijet correlations in p-Pb collisions at root s(NN) = 5.02 TeV with the ALICE detector is presented. Jets are reconstructed from charged particles measured in the central tracking detectors and neutral energy deposited in the electromagnetic calorimeter. The transverse momentum of the full jet (clustered from charged and neutral constituents) and charged jet (clustered from charge

The aim of this study was to translate and adapt the Sydney Swallow Questionnaire to Swedish conditions and to evaluate the validity and test-retest reliability of the Swedish translation in patients with oropharyngeal dysphagia and in healthy controls.

Glioblastoma multiforme (GBM) is the most common and aggressive form of primary brain tumor. In spite of surgical resection, combined radiation therapy and chemotherapy, the mean survival is less than 15 months following diagnosis. Using the established N29 and N32 animal models of glioma, shown to have many similarities with the human tumor, we are able to study and develop therapeutic strategies

Two species of the genus Choricystis (Choricystis minor and Choricystis chodatii) have been chromosomally surveyed. In addition, their ability to form symbiotic associations with the ciliate Paramecium bursaria was also investigated. Choricystis minor (clone #8931/1 from strain #8931) was isolated from a moss sample collected on Livingston Island, Maritime Antarctica. Choricystis chodatii (clone #

Renewable energy sources of heat offer the substantial economic, environmental and social benefits associated with renewable electricity but policy to support their expansion is considerably less advanced. The potential for applying various support instruments to renewable heat is considered with advantages and disadvantages discussed. (c) 2012 Published by Elsevier Ltd.

The neurocognitive outcome of children born with extremely low birth weight (ELBW) is highly variable due to the complexity of morbidity. So far, no study has compared comprehensive neuropsychological test profiles in groups with different neuromotor status. In a national cohort of ELBW children neuropsychological test profiles were assessed in 4 groups defined according to a neurological examinat

Sleep has a major impact on our wellbeing and how we perform.OSA has an estimated prevalence of 2 % in women and 4 % in male and is characterized by repetitive complete (apnoea) or partial (hypopnoea) cessation of breathing. I wondered how the patients managed sexuality and closeness when suffering from OSA and in particular how the Continuous Positive Airways Pressure (CPAP) treatment affected th

Much of the toxicity of Hb has been linked to its redox activity; Hb may generate reactive oxygen species, such as the superoxide anion. Superoxide is intrinsically toxic, and superoxide dismutase (SOD) provides important cellular protection. However, if the Hb molecule is located outside the red blood cell, the normal protection systems involving SOD and catalase are no longer closely associated

The gamma p -> K-0 Sigma(+) reaction has been measured from threshold to E-gamma = 1.45 GeV (W-CM = 1.9 GeV) using the Crystal Ball and TAPS multiphoton spectrometers together with the photon tagging facility at the Mainz Microtron MAMI. In the present experiment, this reaction was searched for in the 3 pi(0)p final state, by assuming K-S(0) -> pi(0)pi(0) and Sigma(+) -> pi(0)p. The experimental r

This work demonstrates that hydrogen can be reversibly stored in a composite of NaF and Al. NaF and Al reacts to a mixture of Na3AlF6 and NaAlH4 via hydridofluoride phases of the form Na3AlH6-xFx. The analysis of thermodynamics based on literature standard enthalpies of formation yields the technically favourable enthalpy of reaction of roughly 35 kJ/mol H-2 for a theoretical gravimetric hydrogen

The title compound, C(12)H(18)O(6), is in the usual chair conformation with the two ester functions in a 1,3-trans orientation. With a value of 1.439 (2) Å, the pseudo-axial C-O bond of the 1,3-dioxolane ring is slightly longer than the corresponding equatorial C-O bond of 1.424 (3) Å. The O-C-O angle of the dioxolane ring is 106.25 (17)°.