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Sökning: WFRF:(Balwierz W)

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1.
  • Babol-Pokora, K, et al. (författare)
  • Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients
  • 2021
  • Ingår i: Archivum immunologiae et therapiae experimentalis. - : Springer Science and Business Media LLC. - 1661-4917 .- 0004-069X. ; 69:1, s. 31-
  • Tidskriftsartikel (refereegranskat)abstract
    • Hemophagocytic lymphohistiocytosis (HLH) is a clinical syndrome of life-threatening inflammation caused by an excessive, prolonged and ineffective immune response. An increasing number of HLH cases is recognized in Poland, but the genetic causes of familial HLH (FHL) have not been reported. We investigated the molecular genetics and associated outcomes of pediatric patients who met HLH criteria. We studied 54 patients with HLH, 36 of whom received genetic studies. Twenty-five patients were subjected to direct sequencing of the PRF1, UNC13D, STX11, XIAP and SH2D1A genes. Additionally, 11 patients were subjected to targeted next-generation sequencing. In our study group, 17 patients (31%) were diagnosed with primary HLH, with bi-allelic FHL variants identified in 13 (36%) patients whereas hemizygous changes were identified in 4 patients with X-linked lymphoproliferative diseases. In addition, one patient was diagnosed with X-linked immunodeficiency with magnesium defect, Epstein–Barr virus infection and neoplasia due to a hemizygous MAGT1 variant; another newborn was diagnosed with auto-inflammatory syndrome caused by MVK variants. The majority (65%) of FHL patients carried UNC13D pathogenic variants, whereas PRF1 variants occurred in two patients. Novel variants in UNC13D, PRF1 and XIAP were detected. Epstein–Barr virus was the most common trigger noted in 23 (65%) of the patients with secondary HLH. In three patients with secondary HLH, heterozygous variants of FHL genes were found. Overall survival for the entire study group was 74% with a median of 3.6 years of follow-up. Our results highlight the diversity of molecular causes of primary HLH in Poland.
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  • Babusci, D., et al. (författare)
  • Precision measurement of sigma (e(+)e(-) -> pi(+)pi(-)gamma)/sigma(e(+)e(-) ->mu(+)mu(-)gamma) and determination of the pi(+)pi(-) contribution to the muon anomaly with the KLOE detector
  • 2013
  • Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 720:4-5, s. 336-343
  • Tidskriftsartikel (refereegranskat)abstract
    • We have measured the ratio cr (e(+)e(-) -> pi(+)pi(-)gamma)/sigma(e(+)e(-) -> mu(+)mu(-)gamma), with the KLOE detector at DA Phi NE for a total integrated luminosity of similar to 240 pb(-1). From this ratio we obtain the cross section sigma (e(+)e(-) -> pi(+)pi(-)gamma). From the cross section we determine the pion form factor vertical bar F-pi vertical bar(2) and the two-pion contribution to the muon anomaly a(mu) for 0.592< M-pi pi < 0.975 GeV, Delta(pi pi) a(mu) = (385.1 +/- 1.1(stat) +/- 2.7(sys+theo)) x 10(-10). This result confirms the current discrepancy between the Standard Model calculation and the experimental measurement of the muon anomaly. (c) 2013 Elsevier B.V. All rights reserved.
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5.
  • Babusci, D., et al. (författare)
  • Search for light vector boson production in e(+)e(-) -> mu(+)mu(-)gamma interactions with the KLOE experiment
  • 2014
  • Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 736, s. 459-464
  • Tidskriftsartikel (refereegranskat)abstract
    • We have searched for a light vector boson U, the possible carrier of a "dark force", with the KLOE detector at the DA Phi NE e(+)e(-) collider, motivated by astrophysical evidence for the presence of dark matter in the Universe. Using e(+)e(-) collisions collected with an integrated luminosity of 239.3 pb(-1), we look for a dimuon mass peak in the reaction e(+)e(-) -> mu(+)mu(-)gamma, corresponding to the decay U -> mu(+)mu(-). We find no evidence for a U vector boson signal. We set a 90% CL upper limit for the mixing parameter squared between the photon and the U boson of 1.6 x 10(-5) to 8.6 x 10(-7) for the mass region 520 < m(U) < 980 MeV.  
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  • Babusci, D., et al. (författare)
  • Study of the Dalitz decay phi -> eta e(+)e(-) with the KLOE detector
  • 2015
  • Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 742, s. 1-6
  • Tidskriftsartikel (refereegranskat)abstract
    • We have studied the vector to pseudoscalar conversion decay phi -> eta e(+)e(-), with.. eta -> pi(0)pi(0)pi(0), with the KLOE detector at DA phi NE. The data set of 1.7 fb(-1) of e(+)e(-) collisions at root s similar to M-phi contains a clear conversion decay signal of similar to 31,000 events from which we measured a value of BR(phi -> eta e(+)e-) = (1.075 +/- 0.007 +/- 0.038) x 10(-4). The same sample is used to determine the transition form factor by a fit to the e(+)e(-) invariant mass spectrum, obtaining b(phi eta)=( 1.28 +/- 0.10(-0.08)(+0.09)) GeV-2, that improves by a factor of five the precision of the previous measurement and is in good agreement with VMD expectations.
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  • Babuscih, D., et al. (författare)
  • Measurement of the absolute branching ratio of the K+ -> pi(+) pi(-) pi(+) (gamma) decay with the KLOE detector
  • 2014
  • Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 738, s. 128-133
  • Tidskriftsartikel (refereegranskat)abstract
    • The absolute branching ratio of the K+ -> pi(+) pi(-) pi(+) (gamma) decay, inclusive of final-state radiation, has been measured using similar to 17 million tagged K+ mesons collected with the KLOE detector at DA Phi NE, the Frascati phi-factory. The result is: BR(K+ -> pi(+) pi(-) pi(+) (gamma)) = 0.05565 +/- 0.00031(stat) +/- 0.00025(syst) a factor similar or equal to 5 more precise with respect to the previous result. This work completes the program of precision measurements of the dominant kaon branching ratios at KLOE.
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8.
  • Fabian, ID, et al. (författare)
  • Travel burden and clinical presentation of retinoblastoma: analysis of 1024 patients from 43 African countries and 518 patients from 40 European countries
  • 2021
  • Ingår i: The British journal of ophthalmology. - : BMJ. - 1468-2079 .- 0007-1161. ; 105:10, s. 1435-1443
  • Tidskriftsartikel (refereegranskat)abstract
    • The travel distance from home to a treatment centre, which may impact the stage at diagnosis, has not been investigated for retinoblastoma, the most common childhood eye cancer. We aimed to investigate the travel burden and its impact on clinical presentation in a large sample of patients with retinoblastoma from Africa and Europe.MethodsA cross-sectional analysis including 518 treatment-naïve patients with retinoblastoma residing in 40 European countries and 1024 treatment-naïve patients with retinoblastoma residing in 43 African countries.ResultsCapture rate was 42.2% of expected patients from Africa and 108.8% from Europe. African patients were older (95% CI −12.4 to −5.4, p<0.001), had fewer cases of familial retinoblastoma (95% CI 2.0 to 5.3, p<0.001) and presented with more advanced disease (95% CI 6.0 to 9.8, p<0.001); 43.4% and 15.4% of Africans had extraocular retinoblastoma and distant metastasis at the time of diagnosis, respectively, compared to 2.9% and 1.0% of the Europeans. To reach a retinoblastoma centre, European patients travelled 421.8 km compared to Africans who travelled 185.7 km (p<0.001). On regression analysis, lower-national income level, African residence and older age (p<0.001), but not travel distance (p=0.19), were risk factors for advanced disease.ConclusionsFewer than half the expected number of patients with retinoblastoma presented to African referral centres in 2017, suggesting poor awareness or other barriers to access. Despite the relatively shorter distance travelled by African patients, they presented with later-stage disease. Health education about retinoblastoma is needed for carers and health workers in Africa in order to increase capture rate and promote early referral.
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  • Forrest, ARR, et al. (författare)
  • A promoter-level mammalian expression atlas
  • 2014
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 507:7493, s. 462-
  • Tidskriftsartikel (refereegranskat)
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  • Resultat 1-10 av 33

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