Biomedical subjects
Publications and source records attributed to D C Siggers.
A family is reported where tuberous sclerosis has probably affected five generations, but where none of the members has been mentally retarded and there is no history of seizures.
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The presence or absence of a double pre-beta lipoprotein (pre-beta 1+ or pre-beta 1-) peak on agarose gel electrophoresis was recorded in: a) 77 survivors of myocardial infarction, b) their first-degree relatives, and c) 148 controls. Thirty-nine percent of myocardial infarction survivors and 24% of controls had pre-beta 1+ (P less than 0.05). The segregation of pre-beta 1+ in the families of myocardial infarction survivors was consistent with autosomal dominant inheritance. In the control group, fasting serum cholesterol and triglyceride values were higher in the pre beta 1+ subjects, but the differences were not significant. We conclude that the presence of double pre-beta lipoprotein peak on electrophoresis is associated with an increased risk of myocardial infarction.
Six cases of cartilage hair hypoplasia from five kindreds are described. They demonstrate variation in the expression of clinical features such as sparsity of hair, hair calibre, radiological changes, short stature and the extent of the disproportion between sitting height and stature.
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To determine whether dysautonomia arises from alteration in nerve-growth factor (NGF), we measured serum levels of NGF subunits in normal and dysautonomic subjects using a biologic assay based on neurite outgrowth from chick ganglions, a binding assay based on displacement of radiolabeled betaNGF from rabbit-ganglion microsomes, and radioimmunoassays of chi, gamma and betaNGF subunits via antiserum to mouse NGF polypeptides. A threefold increase (P less than 0.001) in serum antigen levels of the biologically active subunit (betaNGF) was found for dysautonomic as compared with normal subjects. By all other assays, the groups were alike. The marked discrepancy in betaNGF levels between antigenic and functional (biologic and binding) measurements suggests a qualitative abnormaltiy of betaNGF in dysautonomia. Alternatively, elevation of betaNGF antigen can be regarded as secondary to disease. This alternative seems less likely since we must then suppose that the normalcy of functional assays in spurious.
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We report the bilateral absence of response to tests of vestibular function in 5 patients with familial dysautonomia.
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