| 1. |
- van Krieken, J. H., et al.
(author)
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Guideline on the requirements of external quality assessment programs in molecular pathology
- 2013
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In: Virchows Archiv. - : Springer Science and Business Media LLC. - 0945-6317 .- 1432-2307. ; 462:1, s. 27-37
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Journal article (peer-reviewed)abstract
- Molecular pathology is an integral part of daily diagnostic pathology and used for classification of tumors, for prediction of prognosis and response to therapy, and to support treatment decisions. For these reasons, analyses in molecular pathology must be highly reliable and hence external quality assessment (EQA) programs are called for. Several EQA programs exist to which laboratories can subscribe, but they vary in scope, number of subscribers, and execution. The guideline presented in this paper has been developed with the purpose to harmonize EQA in molecular pathology. It presents recommendations on how an EQA program should be organized, provides criteria for a reference laboratory, proposes requirements for EQA test samples, and defines the number of samples needed for an EQA program. Furthermore, a system for scoring of the results is proposed as well as measures to be taken for poorly performing laboratories. Proposals are made regarding the content requirements of an EQA report and how its results should be communicated. Finally, the need for an EQA database and a participant manual are elaborated. It is the intention of this guideline to improve EQA for molecular pathology in order to provide more reliable molecular analyses as well as optimal information regarding patient selection for treatment.
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| 2. |
- Pinol-Ferrer, Nuria, et al.
(author)
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Physical condition of the molecular gas at the centre of NGC 1097
- 2011
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In: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 414:1, s. 529-537
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Journal article (peer-reviewed)abstract
- We have used the X(CO) conversion factor, local thermodynamic equilibrium and large velocity gradient approximation to parametrize the cold and warm phases of the interstellar medium from five different low transitions of the CO molecule in the central 21 arcsec (kpc) region of NGC 1097. We have applied a one-component model and derived a typical kinetic temperature of about 33 K, a molecular hydrogen density of 4.9 x 10(3) M(circle dot) pc(-3) and a CO column density of 1.2 x 10(-2) M(circle dot) pc(-2). A two-component model results in 85 per cent cold-to-total gas fraction in the presence of a 90 K warm counterpart. Furthermore, we 'resolve' the spatially unresolved single-dish observations by selecting velocity channels that in an interferometric velocity map correspond to specific regions. We have selected five such regions and found that the physical properties in these regions are comparable to those derived from the full line profile. This implies that the central kpc of NGC 1097 is rather homogeneous in nature and, although the regions are not uniquely located within the ring, the star formation along the ring is homogeneously distributed (in agreement with recent Herschel observations). We have further revised the mass-inflow rate on to the supermassive black hole in this prototype low-ionization nuclear emission-line region/Seyfert 1 galaxy and found that accounting for the total interstellar medium and applying a careful contribution of the disc thickness and corresponding stability criterion increases the previous estimations by a factor of 10. Finally, we have calculated the X(CO) conversion factor for the centre of NGC 1097 using an independent estimation of the surface density to the CO emission and obtained X(CO) = (2.8 +/- 0.5) x 10(20) cm(-2) (K km s(-1))(-1) at a radius 10.5 arcsec and X(CO) = (5.0 +/- 0.5) x 10(20) cm(-2) (K km s(-1))(-1) at a radius 7.5 arcsec. With the approach and analysis described in this paper, we have demonstrated that important physical properties can be derived to a resolution beyond the single-dish resolution element; however, caution is necessary while interpreting the results.
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| 3. |
- van de Ven, Johannes P. H., et al.
(author)
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A functional variant in the CFI gene confers a high risk of age-related macular degeneration
- 2013
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:7, s. 813-813
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Journal article (peer-reviewed)abstract
- Up to half of the heritability of age-related macular degeneration (AMD) is explained by common variants(1-5). Here, we report the identification of a rare, highly penetrant missense mutation in CFI encoding a p.Gly119Arg substitution that confers high risk of AMD (P = 3.79 x 10(-6); odds ratio (OR) = 22.20, 95% confidence interval (CI) = 2.98-164.49). Plasma and sera from cases carrying the p.Gly119Arg substitution mediated the degradation of C3b, both in the fluid phase and on the cell surface, to a lesser extent than those from controls. Recombinant protein studies showed that the Gly119Arg mutant protein is both expressed and secreted at lower levels than wild-type protein. Consistent with these findings, human CFI mRNA encoding Arg119 had reduced activity compared to wild-type mRNA encoding Gly119 in regulating vessel thickness and branching in the zebrafish retina. Taken together, these findings demonstrate that rare, highly penetrant mutations contribute to the genetic burden of AMD.
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