Biomedical subjects
Publications and source records attributed to R Sardi.
A case of primary congenital lymphedema is reported. Asymmetrical involvement of the low limbs and unremarkable family history for lymphedema (indicating of de novo mutation) was the main findings.
The paper describes four cases of trisomy 18 or Edwards' syndrome observed in the Pediatric Division of SS. Annunziata Hospital, Savigliano (CN) between 1/1/79 and 31/12/88. Following an illustrated description of the cases (3 males and 1 female), the epidemiological and clinical aspects of the syndrome are briefly discussed.
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The role of the optokinetic reflex (OKR) is that of cooperating with the vestibulo-ocular reflex (VOR) in the task of image stabilization on the retina during head rotations in a stationary visual surround. Since the dynamics of VOR was already well established, it has been possible to make a broad estimation of what the dynamics of OKR should be in order to obtain the performances observed in normal subjects. A mathematical model of OKR has been presented, and the experimental results obtained by Raphan et al. (1977) in the monkey and by Collins et al. (1970) in man were used to validate the model and to obtain a precise estimation of its parameters.
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A case of ectrodactyly characterized by simple absence of the third finger of the right hand is reported. Clinical and genetic aspects are considered.
An echographic examination in a 33 year old woman at the 12th week of pregnancy revealed a foetus with a cystic hygroma of the neck. The amniocentesis was performed at the 14th week and the karyotype analysis showed a trisomy 21 with a translocation 21q21q.
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