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Biomedical subjects

L Toudic

Publications and source records attributed to L Toudic.

34 records · Page 2Linked to original sources
PubMed1982

[Polydactyly].

The authors propose an original classification of the polydactyly. They opposed: polydactyly "symptom" and polydactyly "disease". Discussion about five personal pedigrees.

Chromosome Aberrations↗
PubMed1982

[Postaxial polydactyly in a female neonate associated with hydrocolpos due to vaginal atresia and with a congenital cardiopathy: the McKusick-Kaufman syndrome].

The existence in a new-born child of post-axial polydactyly, associated with an abdominal tumor due to hydrocolpos, because of a low vaginal atresia, and with congenital heart-disease, recalls the diagnosis of the McKusick-Kaufman syndrome. This syndrome must be differentiated from the Ellis-Van Creveld syndrome, which also includes polydactyly and congenital heart disease, associated with a "chondrodysplasis" and an "ectodermodysplasia".

Female↗
PubMed1979

[Incidence of cystic fibrosis in Brittany (author's transl)].

Incidence of cystic fibrosis has been estimated in three adjacent geographic areas of Brittany: North Finistere, South Finistere and Morbihan. This incidence is respectively 6.0 x 10(-4), 4.8 x 10(-4), 2.9 x 10(-4) in these three areas. A significant difference between North Finistere and Morbihan was found. Without proofs in favor of natural selection, genetic drift seems to be a possible explanation of this variation. Moreover, as in other studies, a genetic heterogeneity of the disease was not shown.

Cystic Fibrosis↗
PubMed1978

Cluster of cystic fibrosis cases in a limited area of Brittany (France).

Cystic fibrosis in the northern sector of the French "département" of Finistère is 1:1787 live births. Within this sector a concentration of the disease was found in a small area. The minimal frequency in this area, from 1946 to 1972, was calculated as 1 per 377 live births, the gene frequency being 0.0515. Genealogic analysis, going back to the beginning of the 18th century, showed a relationship between 8 of the 10 families to which the patients belonged. The origin of the deleterious genes may be explained by a least five primary ancestral couples living in the 18th century. Random drift is the most probable explanation for the concentration of cystic fibrosis in this region.

Cystic Fibrosis↗
PubMedDate not supplied

[Costa's acrokerato-elastoidosis. Ultrastructural study (author's transl)].

Acrokerato-elastoidosis described by Costa is characterized by numerous little keratotic points and translucent horny wheals on the dorsal aspect of hands and (or) feets. The ultrastructural study shows lesions of the elastic tissue which is very rarefied with an abnormal structure, but also demonstrates alterations of the fibroblasts that contain dense granules at the periphery of their cytoplasm without elastic extracellular fibers, suggesting a trouble in the secretion or the excretion of the elastic material.

Acrodermatitis↗
PubMedDate not supplied

[Costa's acrokerato-elastoidosis. Ultrastructural study (author's transl)].

Acrokerato-elastoidosis described by Costa is characterized by numerous little keratotic points and translucent horny wheals on the dorsal aspect of hands and (or) feet. The ultrastructural study shows lesions of the elastic tissue which is very rarefied with an abnormal structure, but also demonstrates alterations of the fibroblasts that contain dense granules at the periphery of their cytoplasm without elastic extracellular fibers, suggesting a trouble in the secretion or the excretion of the elastic material.

Acrodermatitis↗