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Sökning: WFRF:(Tilley W)

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1.
  • Dadaev, Tokhir, et al. (författare)
  • Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.
  • 2018
  • Ingår i: ; 9:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Prostate cancer is a polygenic disease with a large heritable component. A number of common, low-penetrance prostate cancer risk loci have been identified through GWAS. Here we apply the Bayesian multivariate variable selection algorithm JAM to fine-map 84 prostate cancer susceptibility loci, using summary data from a large European ancestry meta-analysis. We observe evidence for multiple independent signals at 12 regions and 99 risk signals overall. Only 15 original GWAS tag SNPs remain among the catalogue of candidate variants identified; the remainder are replaced by more likely candidates. Biological annotation of our credible set of variants indicates significant enrichment within promoter and enhancer elements, and transcription factor-binding sites, including AR, ERG and FOXA1. In 40 regions at least one variant is colocalised with an eQTL in prostate cancer tissue. The refined set of candidate variants substantially increase the proportion of familial relative risk explained by these known susceptibility regions, which highlights the importance of fine-mapping studies and has implications for clinical risk profiling.
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  • Dulski, J., et al. (författare)
  • Clinical variability of neuroacanthocytosis syndromes : A series of six patients with long follow-up
  • Ingår i: Clinical Neurology and Neurosurgery. - : Elsevier. - 0303-8467. ; 147, s. 78-83
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective To provide clinical clues to differential diagnosis in patients with chorea and other movement disorders with blood acanthocytes. Methods We present a long-term video accompanied follow-up of six Caucasian patients with neuroacanthocytosis from several centers, three diagnosed with chorea-acanthocytosis (ChAc): 34-y.o.(no.1), 36-y.o.(no.2), 43-y.o.(no.3), two diagnosed with McLeod Syndrome (MLS): 52-y.o.(no.4), 61-y.o.(no.5) and one 63-y.o.(no.6), a brother of no.5, with clinical suspicion of MLS. Additionally we report pathological findings of the mother of two brothers with MLS reported in our series with acanthocytes on peripheral blood smear Results The patients had an unremarkable family history and were asymptomatic until adulthood. Patients no. 1,2,4,5,6 developed generalized chorea and patient no. 3 had predominant bradykinesia. Patients no. 1,2,3 had phonic and motor tics, additionally patients no. 1 and 2 exhibited peculiar oromandibular dystonia with tongue thrusting. In patients no. 2 and 3 dystonic supination of feet was observed, patient no. 3 subsequently developed bilateral foot drop. Patients no. 2 and 4 had signs of muscle atrophy. Tendon reflexes were decreased or absent and electroneurography demonstrated sensorimotor neuropathy in patients no. 1,2,3,4,5, except no. 6. Generalized seizures were seen in patients no. 2,3,5,6 and myoclonic jerks in patient no. 1. Cognitive deterioration was reported in patients no. 1,2,3,5,6. Serum creatine kinase levels were elevated in all six patients. Conclusion We highlight the variability of clinical presentation of neuroacanthocytosis syndromes and the long time from the onset to diagnosis with the need to screen the blood smears in uncertain cases, however, as in one of our cases acanthocytes may even be not found. Based on our observations and data from the literature we propose several red flags that should raise the suspicion of an NA syndrome in a patient with a movement disorder: severe orofacial dyskinesia with tongue and lip-biting (typical of ChAc), feeding dystonia, psychiatric and cognitive disturbances, seizures, peripheral neuropathy, elevation of creatine kinase, elevation of transaminases, hepatosplenomegaly, cardiomyopathy and arrhythmias, and an X-linked pattern of inheritance (McLeod Syndrome, MLS).
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5.
  • Dulski, J., et al. (författare)
  • Neuroacanthocytosis - Clinical variability (a report on six cases)
  • Ingår i: Eighteenth International Congress of Parkinson's Disease and Movement Disorders,Stockholm, Sweden,2014-06-08 - 2014-07-12. - : John Wiley and Sons Inc.. ; 29:Suppl 1, s. 194-194
  • Konferensbidrag (refereegranskat)abstract
    • Objective: To provide clinical clues to differential diagnosis in patients with chorea and other movement disorders with blood acanthocytes. Background: Neuroacanthocytosis (NA) is an umbrella term for neurological conditions associated with acanthocytosis. Core NA syndromes, with basal ganglia involvement and in which acanthocytosis is a frequent finding, include autosomal recessive choreaacanthocytosis (Ch-Ac) and X-linked McLeod syndrome (MLS). Due to the very low prevalence, scarcity of data and high clinical variability they may be underdiagnosed. Methods: Six male patients (pts), three diagnosed with Ch-Ac: 33-y.o.(no.1), 35-y.o.(no.2), 42-y.o.(no.3), two diagnosed with MLS: 52-y.o.(no.4), 60-y.o.(no.5) and one 62-y.o.(no.6), a brother of no.5, with clinical suspicion of MLS. The patients had an unremarkable family history and were asymptomatic until adulthood. Pts no.1,2,4,5,6 developed generalized chorea and patient no.3 had predominant bradykinesia. Pts no.1,2,3 had phonic and motor tics, additionally pts no.1 and 2 exhibited peculiar oromandibular dystonia with tongue thrusting. In pts no.2 and 3 dystonic supination of feet was observed, patient no.3 subsequently developed bilateral foot drop. Pts no. 2 and 4 had signs of muscle atrophy. Tendon reflexes were decreased or absent and electroneurography demonstrated sensorimotor neuropathy in patients no. 1,2,3,4,5, except no. 6. Generalized seizures were seen in patients no.2,3,5,6 and myoclonic jerks in patient no 1. Cognitive deterioration was reported in patients no.1,2,3,5,6. Serum creatine kinase levels were elevated in all six patients. Results: Peripheral blood smears revealed acanthocytosis in patients no.1,2,3,5,6, except no. 4. In patients no. 1 and 3 reduced expression of chorein was detected on Western blot. In patient no. 2 genetic testing showed mutations in VPS13A gene and in no.4 and 5 genetic analysis confirmed mutations in XK gene (MLS). The time from the onset of symptoms till establishing the diagnosis in patients no. 1,2,3,4,5 was 11,5,7,6,32 years respectively. Patient no.4 suddenly developed multiple organ failure and died of cardiac arrhythmia at the age of 52. Conclusions: We highlight the variability of clinical presentation of NA syndromes and the long time from the onset to diagnosis with the need to screen the blood smears in uncertain cases, however, as in one of our cases acanthocytes may even be not found.
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  • Oh, T. G., et al. (författare)
  • PRMT2 and ROR gamma Expression Are Associated With Breast Cancer Survival Outcomes
  • 2014
  • Ingår i: Molecular Endocrinology. - 0888-8809. ; 28:7, s. 1166-1185
  • Tidskriftsartikel (refereegranskat)abstract
    • Protein arginine methyltransferases (PRMTs) methylate arginine residues on histones and target transcription factors that play critical roles in many cellular processes, including gene transcription, mRNA splicing, proliferation, and differentiation. Recent studies have linked PRMT-dependent epigenetic marks and modifications to carcinogenesis and metastasis in cancer. However, the role of PRMT2-dependent signaling in breast cancer remains obscure. We demonstrate PRMT2 mRNA expression was significantly decreased in breast cancer relative to normal breast. Gene expression profiling, Ingenuity and protein-protein interaction network analysis after PRMT2-short interfering RNA transfection into MCF-7 cells, revealed that PRMT2-dependent gene expression is involved in cell-cycle regulation and checkpoint control, chromosomal instability, DNA repair, and carcinogenesis. For example, PRMT2 depletion achieved the following: 1) increased p21 and decreased cyclinD1 expression in (several) breast cancer cell lines, 2) decreased cell migration, 3) induced an increase in nucleotide excision repair and homologous recombination DNA repair, and 4) increased the probability of distance metastasis free survival (DMFS). The expression of PRMT2 and retinoid-related orphan receptor-gamma (ROR gamma) is inversely correlated in estrogen receptor-positive breast cancer and increased ROR gamma expression increases DMFS. Furthermore, we found decreased expression of the PRMT2-dependent signature is significantly associated with increased probability of DMFS. Finally, weighted gene coexpression network analysis demonstrated a significant correlation between PRMT2-dependent genes and cell-cycle checkpoint, kinetochore, and DNA repair circuits. Strikingly, these PRMT2-dependent circuits are correlated with pan-cancer metagene signatures associated with epithelial-mesenchymal transition and chromosomal instability. This study demonstrates the role and significant correlation between a histone methyltransferase (PRMT2)-dependent signature, ROR gamma, the cell-cycle regulation, DNA repair circuits, and breast cancer survival outcomes.
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  • Schumann, G, et al. (författare)
  • Stratified medicine for mental disorders
  • 2014
  • Ingår i: European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology. - 1873-7862. ; 24:1, s. 5-50
  • Tidskriftsartikel (refereegranskat)
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  • Gressens, Pierre, et al. (författare)
  • Pitfalls in the Quest of Neuroprotectants for the Perinatal Brain.
  • 2011
  • Ingår i: Developmental neuroscience. - 1421-9859. ; 33:3-4, s. 189-198
  • Tidskriftsartikel (refereegranskat)abstract
    • Sick preterm and term newborns are highly vulnerable to neural injury, and thus there has been a major search for new, safe and efficacious neuroprotective interventions in recent decades. Preclinical studies are essential to select candidate drugs for clinical trials in humans. This article focuses on 'negative' preclinical studies, i.e. studies where significant differences cannot be detected. Such findings are critical to inform both clinical and preclinical investigators, but historically they have been difficult to publish. A significant amount of time and resources is lost when negative results or nonpromising therapeutics are replicated in separate laboratories because these negative results were not shared with the research community in an open and accessible format. In this article, we discuss approaches to strengthen conclusions from negative preclinical studies and, conversely, to reduce false-negative preclinical evaluations of potential therapeutic compounds. Without being exhaustive, we address three major issues in conducting and interpreting preclinical experiments, including: (a) the choice of animal models, (b) the experimental design, and (c) issues concerning statistical analyses of the experiments. This general introduction is followed by synopses of negative data obtained from studies of three potential therapeutics for perinatal brain injury: (1) the somatostatin analog octreotide, (2) an AMPA/kainate receptor antagonist, topiramate, and (3) a pyruvate derivative, ethyl pyruvate.
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10.
  • Idelevich, E. A., et al. (författare)
  • Microbiological diagnostics of bloodstream infections in Europe-an ESGBIES survey
  • 2019
  • Ingår i: Clinical Microbiology and Infection. - : Elsevier. - 1198-743X .- 1469-0691. ; 25:11, s. 1399-1407
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives: High-quality diagnosis of bloodstream infections (BSI) is important for successful patient management. As knowledge on current practices of microbiological BSI diagnostics is limited, this project aimed to assess its current state in European microbiological laboratories.Methods: We performed an online questionnaire-based cross-sectional survey comprising 34 questions on practices of microbiological BSI diagnostics. The ESCMID Study Group for Bloodstream Infections, Endocarditis and Sepsis (ESGBIES) was the primary platform to engage national coordinators who recruited laboratories within their countries.Results: Responses were received from 209 laboratories in 25 European countries. Although 32.5% (68/209) of laboratories only used the classical processing of positive blood cultures (BC), two-thirds applied rapid technologies. Of laboratories that provided data, 42.2% (78/185) were able to start incubating BC in automated BC incubators around-the-clock, and only 13% (25/192) had established a 24-h service to start immediate processing of positive BC. Only 4.7% (9/190) of laboratories validated and transmitted the results of identification and antimicrobial susceptibility testing (AST) of BC pathogens to clinicians 24 h/day. Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry from briefly incubated sub-cultures on solid media was the most commonly used approach to rapid pathogen identification from positive BC, and direct disc diffusion was the most common rapid AST method from positive BC.Conclusions: Laboratories have started to implement novel technologies for rapid identification and AST for positive BC. However, progress is severely compromised by limited operating hours such that current practice of BC diagnostics in Europe complies only partly with the requirements for optimal BSI management.
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