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Träfflista för sökning "WFRF:(De Lorenzo G.) srt2:(1995-1999)"

Sökning: WFRF:(De Lorenzo G.) > (1995-1999)

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1.
  • Antonarakis, S. E., et al. (författare)
  • Factor VIII gene inversions in severe hemophilia A : Results of an international consortium study
  • 1995
  • Ingår i: Blood. - : American Society of Hematology. - 0006-4971 .- 1528-0020. ; 86:6, s. 2206-2212
  • 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.
  • Matthie, J, et al. (författare)
  • Analytic assessment of the various bioimpedance methods used to estimate body water
  • 1998
  • Ingår i: Journal of applied physiology (Bethesda, Md. : 1985). - : American Physiological Society. - 8750-7587 .- 1522-1601. ; 84:5, s. 1801-1816
  • Tidskriftsartikel (refereegranskat)abstract
    • Knowledge of patient fluid distribution would be useful clinically. Both single-frequency (SF) and impedance modeling approaches are proposed. The high intercorrelation between body water compartments makes determining the best approach difficult. This study was conducted to evaluate the merits of an SF approach. Mathematical simulation was performed to determine the effect of tissue change on resistance and reactance. Dilution results were reanalyzed, and resistance and parallel reactance were used to predict the intracellular water for two groups. Results indicated that the amount of intracellular and extracellular water conduction at any SF can vary with tissue change, and reactance at any SF is affected by all tissue parameters. Modeling provided a good prediction of dilution intracellular and extracellular water, but an SF method did not. Intracellular, extracellular, and total body water were equally predicted at all frequencies by SF resistance and parallel reactance. Extracellular and intracellular water are best measured through modeling, because only at the zero and infinite frequencies are the results sensitive only to extracellular and intracellular water. At all other frequencies there are other effects.
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