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Sökning: WFRF:(Gimelli G)

  • Resultat 1-7 av 7
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  • Hagleitner, M M, et al. (författare)
  • Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
  • 2008
  • Ingår i: Journal of medical genetics. - : BMJ. - 1468-6244. ; 45:2, s. 93-9
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a rare autosomal recessive disease characterised by facial dysmorphism, immunoglobulin deficiency and branching of chromosomes 1, 9 and 16 after PHA stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients which is explained by mutations in the DNA methyltransferase gene DNMT3B in some, but not all, ICF patients. OBJECTIVE: To obtain a comprehensive description of the clinical features of this syndrome as well as genotype-phenotype correlations in ICF patients. METHODS: Data on ICF patients were obtained by literature search and additional information by means of questionnaires to corresponding authors. Results and CONCLUSIONS: 45 patients all with proven centromeric instability were included in this study. Facial dysmorphism was found to be a common characteristic (n = 41/42), especially epicanthic folds, hypertelorism, flat nasal bridge and low set ears. Hypo- or agammaglobulinaemia was demonstrated in nearly all patients (n = 39/44). Opportunistic infections were seen in several patients, pointing to a T cell dysfunction. Haematological malignancy was documented in two patients. Life expectancy of ICF patients is poor, especially those with severe infections in infancy or chronic gastrointestinal problems and failure to thrive. Early diagnosis of ICF is important since early introduction of immunoglobulin supplementation can improve the course of the disease. Allogeneic stem cell transplantation should be considered as a therapeutic option in patients with severe infections or failure to thrive. Only 19 of 34 patients showed mutations in DNMT3B, suggesting genetic heterogeneity. No genotype-phenotype correlation was found between patients with and without DNMT3B mutations.
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  • Bäck, M, et al. (författare)
  • Highlights from 2022 in EHJ Open
  • 2022
  • Ingår i: European heart journal open. - : Oxford University Press (OUP). - 2752-4191. ; 2:6, s. oeac084-
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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5.
  • Bäck, M, et al. (författare)
  • Open Up your Science in EHJ Open
  • 2021
  • Ingår i: European heart journal open. - : Oxford University Press (OUP). - 2752-4191. ; 1:1, s. oeab021-
  • Tidskriftsartikel (refereegranskat)
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  • Pipicelli, Michele, et al. (författare)
  • Comparative Assessment of Zero CO2 Powertrain for Light Commercial Vehicles
  • 2023
  • Ingår i: SAE Technical Papers. - 0148-7191.
  • Konferensbidrag (refereegranskat)abstract
    • The transport sector is experiencing a shift to zero-carbon powertrains driven by aggressive international policies aiming to fight climate change. Battery electric vehicles (BEVs) will play the main role in passenger car applications, while diversified solutions are under investigation for the heavy-duty sector. Within this framework, Light Commercial Vehicles (LCVs) impact is not negligible and accountable for about 2.5% of greenhouse gas (GHG) emissions in Europe. In this regard, few LCV comparative assessments on green powertrains are available in the scientific literature and justified by the fact that several factors and limitations should be considered and addressed to define optimal powertrain solutions for specific use cases. The proposed research study deals with a comparative numerical assessment of different zero-carbon powertrain solutions for LCV. BEVs are compared to hydrogen-based fuel cells (FC) and internal combustion engines (ICE) powered vehicles. The analysis is conducted through specifically developed vehicle models. Vehicle performance in terms of energy efficiency, well-to-wheel GHG, range, payload, and total cost of ownership (TCO) are compared. Optimal powertrain configurations based on predefined vehicle ranges have been identified, and the impact of various cost scenarios has been analyzed. The most influencing factors on TCO have been identified, and a sensitivity analysis has been carried out. The numerical tool developed, and the methodology adopted allows the definition of the domains in which one solution prevails over the others in terms of vehicle range, fuel, and electricity cost.
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  • Resultat 1-7 av 7

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