173,353 research outputs found

    Three-decade follow-up in pulmonary artery ectasia: Risk assessment strategy

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    We present a 29-year follow-up in a patient with ectasia of the pulmonary trunk and mild valvular stenosis. There was no progression from the first presentation at the age of 15 months until the actual age of 30 years, the z-value of the diameter of the pulmonary trunk remaining almost constant (z-value 22). This indicates that pulmonary dilatation with normal pressure may be a benign disease. (C) 2002 by The Society of Thoracic Surgeons

    Familial Williams-Beuren syndrome showing varying clinical expression

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    Williams-Beuren syndrome (WBS) is a contiguous gene syndrome that occurs mainly sporadically, with an estimated frequency of 1:13,700 to 1:25,000 [Grimm and Wessel-hoeft, 1980; Martin et al,, 1984; Udwin, 1990], The cases of monozygotic twins concordant for WBS and dizygotic twins discordant for the syndrome have been reported. In addition, a few familial cases have been described since 1993, The clinical diagnosis has been supported by molecular genetic findings in only two patients, however. We herein report on two families in which the WBS was inherited in girls from their mothers. All four patients showed the typical hemizygous deletion at 7q11.23 [46,XX, ish,del(7)(q11.23q11.23 ) (ELN/LIMK1/D7S613x1, D7S486/D7S522x2)1, hut the clinical picture was strikingly variable within and between families. (C) 2001 Wiley-Liss, Inc

    Ryhiner-Kartensammlung / 35 Den nord vestlige fierdedeel af Siælland : under det kongl. viidenskabernes societets direction ved rigtig landmaaling optaget og ved trigonometriske samt astronomiske operationer prövet

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    tegnet af C. Wessel ; gravée à l'eau forte par Martin, et terminée au burin par Guiter ; [Titelkartusche:] O.N. Flint sc
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