| 2. |
- Serdaroğlu, Esra, et al.
(författare)
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A Turkish BCS1L mutation causes GRACILE-like disorder
- 2017
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Ingår i: Turkish Journal of Pediatrics. - : The Turkish Journal of Pediatrics. - 0041-4301. ; 58:6, s. 658-661
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Tidskriftsartikel (refereegranskat)abstract
- A full-term growth-restricted female newborn (1790 g), presented with lactic acidosis (12.5 mmol/L) after birth. She had renal tubulopathy, cholestasis and elevated serum ferritin concentration (2819 ng/ml). Two similarly affected sisters had died before 3 months of age. Mitochondrial disorder was suspected since the disease resembled the Finnish GRACILE syndrome, caused by a homozygous mutation (c.232A>G) in BCS1L. Thus, we sequenced the BCS1L gene, encoding the assembly factor for respiratory chain complex III. The patient had a homozygous mutation (c.296C>T; p.P99L), for which both parents were heterozygous. In four previously published patients of Turkish origin, the same homozygous mutation resulted in complex III deficiency, tubulopathy, encephalopathy, and liver failure. The p.P99L mutation seems to be specific to Turkish population and leads to GRACILE-like or Leigh-like condition. Assembly defects in complex III should be investigated in the affected tissues, since fibroblasts may not exhibit the deficiency.
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| 3. |
- Söderström, Pär-Anders, et al.
(författare)
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Interaction position resolution simulations and in-beam measurements of the AGATA HPGe detectors
- 2011
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Ingår i: Nuclear Instruments and Methods in Physics Research Section A. - : Elsevier BV. - 0168-9002 .- 1872-9576. ; 638:1, s. 96-109
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Tidskriftsartikel (refereegranskat)abstract
- The interaction position resolution of the segmented HPGe detectors of an AGATA triple cluster detector has been studied through Monte Carlo simulations and in an in-beam experiment. A new method based on measuring the energy resolution of Doppler-corrected γ-ray spectra at two different target to detector distances is described. This gives the two-dimensional position resolution in the plane perpendicular to the direction of the emitted γ-ray. The γ-ray tracking was used to determine the full energy of the γ-rays and the first interaction point, which is needed for the Doppler correction. Five different heavy-ion induced fusion-evaporation reactions and a reference reaction were selected for the simulations. The results of the simulations show that the method works very well and gives a systematic deviation of in the FWHM of the interaction position resolution for the γ-ray energy range from 60 keV to 5 MeV. The method was tested with real data from an in-beam measurement using a 30Si beam at 64 MeV on a thin 12C target. Pulse-shape analysis of the digitized detector waveforms and γ-ray tracking was performed to determine the position of the first interaction point, which was used for the Doppler corrections. Results of the dependency of the interaction position resolution on the γ-ray energy and on the energy, axial location and type of the first interaction point, are presented. The FWHM of the interaction position resolution varies roughly linearly as a function of γ-ray energy from 8.5 mm at 250 keV to 4 mm at 1.5 MeV, and has an approximately constant value of about 4 mm in the γ-ray energy range from 1.5 to 4 MeV.
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