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PURPOSE: Mutations in the gene encoding rhodopsin,the visual pigment in rod photoreceptors, were shown to be the most commoncause of autosomal retinitis pigmentosa (RP). In order to determine the prevalenceof rhodopsin alterations in southern French populations, we examined 52 unrelatedpatients/families with autosomal dominant RP (adRP=29), RP simplex (6), orunclassified RP (17). METHODS: The full coding and flanking sequences of the rhodopsin (RHO)gene were scanned using an improved DGGE (denaturing gradient gel electrophoresis)assay, followed by sequencing of abnormal fragments. RESULTS: This study revealed three RHO mutations in patients with adRP(G106R, R135W, and c.998^999ins4) and a number of frequent or rare polymorphisms.No disease-causing sequence variation was found in simplex and unclassifiedRP pedigrees. Mutation c.998^999ins4 has not been previously reported, andappears as the first duplication identified so far in the RHO gene. This frameshiftmutation, which is associated with a severe RP, alters the carboxy terminusand predicts a 353-amino acid mutant rhodopsin instead of 348. DISCUSSION: Our study demonstrates that rhodopsin mutations are responsiblefor only 10.3% of adRP in French populations living in the Mediterranean areain contrast to the 25-35% reported in other populations. [ABSTRACT FROM AUTHOR]

Background: As a general rule, epilarynx is studied as a part of supraglottis. On the contrary, in France, due to its particular natural history, it is often studied separately., Methods: To assess the value of this French classification, we compared from an epidemiologic point of view, in one study, 86 cases of epilarynx squamous cell carcinoma (SCC) with 431 oropharynx, 339 hypopharynx, and 89 vestibule SCC. In another study, we compared, from a clinical point of view, 232 epilarynx SCC with 1351 oropharynx, 652 hypopharynx, and 372 vestibule SCC., Results: Epilarynx patients appeared to be much heavier drinkers than larynx patients and similar to pharynx patients but tobacco consumption did not differ. The patterns of nodal involvement were similar for pharynx and epilarynx SCC. For stages I and II, patterns of failures were similar, but for stages III and IV, there were fewer locoregional failures in vestibule patients; distant metastases were equally frequent for these tumors. From the standpoint of multiple primaries, epilarynx SCC appeared to be more akin to pharynx than to larynx SCC with a much lower incidence of lung cancers. Finally, the outcome after treatment was different for vestibule, epilarynx, and pharynx SCC, with a 5-year survival of 43%, 27%, and 13%, respectively., Conclusions: These data support the identification of epilarynx as a real entity that should be taken into account for stratification in clinical trials.

From 1970 to 1982, 79 cases of nasopharyngeal carcinomas were treated at the Regional Cancer Center of Lille (France). At the term of the study, it appears that patients of Central Europe origin have a rather high risk of NPC (17% of cases, that ethnic population representing about 8% of all superior aerodigestive tract carcinomas). The classical differences between well and undifferentiated tumors are founded, the first presenting local spread the other general involvement.

Forty cases of carcinoma in situ of the cervix were seen in the "Center Oscar Labret" of Lille between 1953 and 1978. The best treatment appears to be only simple total hysterectomy. Twenty patients underwent such an operation. seven In the course attended of follow-up, among 36 patients who regularly the out-patient clinic, there was one case of persistent progression and one early vaginal recurrence of the carcinoma in situ.