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Biomedical subjects

C Petit

Publications and source records attributed to C Petit.

236 records · Page 14Linked to original sources
PubMedDate not supplied

[Tomodensitometric aspects of the narrow lumbar canal].

Thirty of 200 cases of lumbar radiculalgia of degenerative origin presented clinical, radiologic, saccographic, and computed tomography signs of a typical narrow lumbar canal, half of these patients having benefited from surgical mobilization of the neuromeninges. Performances of new generation scanners have enabled the development of computed tomography images typical of a narrow lumbar canal, and also to improved assessment of radiotomographic and saccographic signs, as a result of direct visibility of osteo-articular radicular constrainst factors in the transverse axial plane. Findings in stenotic dysplasia, the role of vertebral arthrosis, the particular cases of spondylolisthesis, and the entity determined by isolated stenosis of the nerve root canal (mainly stenosis of the lateral recess) are discussed.

Humans↗
PubMedDate not supplied

BOR and BO syndromes are allelic defects of EYA1.

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disease characterized by varying combinations of branchial, otic and renal anomalies. By positional cloning, a candidate gene, EYA1, homologous to the drosophila eyes absent gene, has recently been identified at 8q13.3 and shown to underlie this syndrome. The name branchio-oto (BO) syndrome has been used to describe a similar combination of branchial and otic anomalies, without the association of renal anomalies. Whether BOR and BO syndromes involve the same gene was unknown. To address this question, we analyzed two large independent families for which each of the 8 affected members present exclusively with BO syndrome. In both families, linkage analysis mapped the causative gene to the same chromosomal region as EYA1. A search for mutations in 9 of the EYA1 coding exons identified a 2-bp insertion segregating in one family and an 8-bp deletion segregating in the other. These results demonstrate that EYA1 also underlies BO syndrome, and that BOR and BO syndromes are allelic defects of this gene.

Alleles↗