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Carrier and prenatal diagnosis based on the identification of the gene defect (direct diagnosis) increases the proportion of haemophilia B families that can be offered precise genetic counselling from the 50-60% attainable by DNA markers, to 100%, and they also provide information on the molecular biology of the disease. We propose that in order to maximize the practical and scientific benefits of
Introduction: The interaction between different product policies will be crucial for the further advancement of a coherent product policy framework. The Commission has stated that ‘the complex and interlocking approach needed to build a resource-efficient Europe can only be achieved with a policy mix that optimizes synergies and addresses trade-offs between different areas and policies’. In the co
Energy intensive industries are one of the fields in which strong increases of energy efficiency and deep decarbonisation strategies are particularly challenging. Although European energy intensive industries have already achieved significant energy and greenhouse gas reductions in the past, much remains to be done to make a significant contribution to achieving European as well as national climat
Purpose: Diabetic retinopathy is the most common eye complication in patients with diabetes. The purpose of this study is to identify genetic factors contributing to severe diabetic retinopathy. Methods: A genome-wide association approach was applied. In the Genetics of Diabetes Audit and Research in Tayside Scotland (GoDARTS) datasets, cases of severe diabetic retinopathy were defined as type 2 d
Allogeneic blood or marrow transplantation (BMT) is currently considered the standard of care for patients with specific inborn errors of metabolism (IEM). However, there is a paucity of studies describing long-term survival and cause-specific late mortality after BMT in these patients with individual types of IEM. We studied 273 patients who had survived ≥2 years after allogeneic BMT for IEM perf
Aims: To investigate whether the N-terminal truncated glutamic acid decarboxylase 65 (GAD65) isoform is as well recognized by people with stiff person syndrome as it is by people with Type 1 diabetes, and whether conformational GAD65 antibody epitopes are displayed properly by the isoform. Methods: GAD65 antibody-positive healthy individuals (n=13), people with stiff-person syndrome (n=15) and chi
A search is performed for localised excesses in dijet mass distributions of low-dijet-mass events produced in association with a high transverse energy photon. The search uses up to 79.8 fb−1 of LHC proton–proton collisions collected by the ATLAS experiment at a centre-of-mass energy of 13 TeV during 2015–2017. Two variants are presented: one which makes no jet flavour requirements and one which r
PURPOSE: To compare the two major complications, namely postoperative urethrocutaneous fistula and urethral stricture, between the Mathieu and tubularized incised plate (TIP) repair methods for distal hypospadias.METHODS: In this meta-analysis, electronic databases were searched for comparative studies on the two techniques. The Oxford Centre for Evidence-based Medicine Levels of Evidence was used
In situ hybridization was used to study expression of mRNAs for members of the nerve growth factor (NGF) family in the rat brain after 2 and 10 min of forebrain ischemia and 1 and 30 min of insulin-induced hypoglycemic coma. Two hours after the ischemic insults, the level of brain-derived neurotrophic factor (BDNF) mRNA was markedly increased in the granule cells of the dentate gyrus, and at 24 h
A search is conducted for the electroweak pair production of a chargino and a neutralino pp→χ1±χ20, where the chargino decays into the lightest neutralino and a W boson, χ1±→χ10W±, while the neutralino decays into the lightest neutralino and a Standard Model-like 125 GeV Higgs boson, χ20→χ10h. Fully hadronic, semileptonic, diphoton, and multilepton (electrons, muons) final states with missing tran
Syftet med rapporten har varit att identifiera de hinder och styrkor som finns i dialoger mellan Malmö stad och fastighetsägare i Sofielund, samt dra lärdomar som skulle kunna användas för att stödja liknande processer. Det empiriska materialet kommer från tio intervjuer samt deltagande observationer i Sofielund.
The problems of neutrino masses, matter-antimatter asymmetry, and dark matter could be successfully addressed by postulating right-handed neutrinos with Majorana masses below the electroweak scale. In this work, leptonic decays of W bosons extracted from 32.9 fb−1 to 36.1 fb−1 of 13 TeV proton–proton collisions at the LHC are used to search for heavy neutral leptons (HNLs) that are produced throug
We do mean-field perturbation theory for U(1) lattice gauge theory in the axial gauge, and evaluate corrections from fluctuations up to fourth order for the free energy and plaquette energy. Comparing with similar results previously obtained in the Feynman gauge we find, to those orders studied, a gauge dependence of the size of the first correction term neglected with one exception. This gauge de
An expanded record (~14 m)of the Paleocene–Eocene Thermal Maximum (PETM), a transient period of extreme global warming that occurred ~56 million years ago, has been found based on calcareous nannofossil and foraminifera stratigraphy in the deep marine Río Gor section, Subbetic Zone, SE Spain. During the early Palaeogene the Subbetic Zone wa
Background: Total tau (tTau) and phosphorylated 181P tau (pTau) are supportive diagnostic cerebrospinal fluid (CSF) biomarkers for Alzheimer's disease. Manual CSF tau assays are limited by lot-to-lot and between-laboratory variability and long incubation/turnaround times. Elecsys® Total-Tau CSF and Phospho-Tau (181P) CSF immunoassays were developed for fully automated cobas e analyzers, allowing b
Background: The exact pathophysiological mechanism(s) underlying endolymphatic hydrops (EH) remain elusive. We have previously shown that chronic administration of vasopressin and inhibitors of the cAMP/cGMP degrading enzymes (PDE3, PDE4, PDE5) results in the development of EH to mice. Aims/objectives: Evaluate the ability of spironolactone, an aldosterone antagonist, to prevent EH, when induced b
A search for new phenomena is presented in final states with two leptons and one or no b-tagged jets. The event selection requires the two leptons to have opposite charge, the same flavor (electrons or muons), and a large invariant mass. The analysis is based on the full run-2 proton-proton collision dataset recorded at a center-of-mass energy of s=13 TeV by the ATLAS experiment at the LHC, corres
CONTEXT: The epidemiological signature of renal cell carcinoma (RCC) during the past decades is explained by overdetection and overtreatment of indolent cancers; furthermore, a non-negligible proportion of patients undergoing surgery for suspected RCC harbour benign renal tumours. As the gold standard for RCC diagnosis remains histopathological analysis of surgical or biopsy specimens, implementat
