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- Antonarakis, S. E., et al.
(författare)
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Factor VIII gene inversions in severe hemophilia A : Results of an international consortium study
- 1995
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Ingår i: Blood. - : American Society of Hematology. - 0006-4971 .- 1528-0020. ; 86:6, s. 2206-2212
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Tidskriftsartikel (refereegranskat)abstract
- Twenty-two molecular diagnostic laboratories from 14 countries participated in a consortium study to estimate the impact of Factor VIII gene inversions in severe hemophilia A. A total of 2,093 patients with severe hemophilia A were studied; of those, 740 (35%) had a type 1 (distal) factor VIII inversion, and 140 (7%) showed a type 2 (proximal) inversion. In 25 cases, the molecular analysis showed additional abnormal or polymorphic patterns. Ninety-eight percent of 532 mothers of patients with inversions were carriers of the abnormal factor VIII gene; when only mothers of nonfamilial cases were studied, 9 de novo inversions in maternal germ cells ware observed among 225 cases (≃ 1 de novo maternal origin of the inversion in 25 mothers of sporadic cases). When the maternal grandparental origin was examined, the inversions occurred de novo in male germ cells in 69 cases and female germ cells in 1 case. The presence of factor VIII inversions is not a major predisposing factor for the development of factor VIII inhibitors; however, slightly more patients with severe hemophilia A and factor VIII inversions develop inhibitors (130 of 642 [20%]) than patients with severe hemophilia A without inversions (131 of 821 [16%]).
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| 2. |
- Skeppstedt, O, et al.
(författare)
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The EUROBALL neutron wall - design and performance tests of neutron detectors
- 1999
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Ingår i: NUCLEAR INSTRUMENTS & METHODS IN PHYSICS RESEARCH SECTION A-ACCELERATORS SPECTROMETERS DETECTORS AND ASSOCIATED EQUIPMENT. - : ELSEVIER SCIENCE BV. ; 421:3, s. 531-541
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- The mechanical design of the EUROBALL neutron wall and neutron detectors, and their performance measured with a Cm-246,Cm-248 fission source are described. The array consists of 15 pseudohexaconical detector units subdivided into three, 149 mm high, herme
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| 5. |
- Jenkins, T. M., et al.
(författare)
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Effects of population density on individual growth of brown trout in streams
- 1999
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Ingår i: Ecology. ; 80:3, s. 941-956
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Tidskriftsartikel (refereegranskat)abstract
- Some studies suggest that lotic populations of brown trout (Salmo trutta) are regulated through density-dependent mortality and emigration to the extent that mean growth rates of resident survivors are unrelated to trout densities. To test this, we studied the relationship between density and growth, mortality, and emigration of brown trout in two alpine streams and a set of stream channels in eastern California. We sampled trout at the scale of "segments" (5-31 m long riffles, runs, and pools) and "sections" (340-500 m in length) of Convict Creek over a 3-yr period. Trout were also sampled during 6 yr in seven 90-m sections of Mammoth Creek. For 2 yr, we manipulated trout densities in Convict Creek by removing trout from two sections and adding trout to two other sections. We also manipulated densities in seven 50-m stream channels, using a natural size distribution of trout in one year and underyearlings only in a second year. In both streams, average size (body length or mass) of underyearlings in fall was negatively related to trout density and was furthermore affected by sampling location and year. The strong, negative relationship between individual mass and density of trout could be detected at the spatial scale of whole sections, but not at the scale of individual segments. The Convict Creek and stream channel experiments also revealed strong negative effects of density on average mass of underyearlings in fall, and on proportional mass increase of yearling and older trout from spring to fall. In contrast, mortality and emigration were unrelated to initial stocking densities in the channels. In all our data, the negative effects on growth were most pronounced at densities <1 trout/m(2) and the growth-density relationships were well described by negative power curves. Large individuals were always less affected by increasing trout density than were small individuals, suggesting a competitive advantage of large over small trout that increased with density. We conclude that individual growth of brown trout in streams can be affected by trout density to an extent that suggests a substantial influence on population regulation. Results from our multiyear, multiscale, and experimental study indicate that density dependence in the growth of stream salmonids will be difficult to detect in purely observational data, especially in systems with relatively high fish densities (where the growth-density relationship has a flat slope), when data are collected and analyzed at small spatial scales, and when insufficient information is collected to assess the contribution of interannual variation in growth.
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