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Biomedical subjects

F Munier

Publications and source records attributed to F Munier.

At least 55 records · Page 3Linked to original sources

Subretinal neovascularization secondary to choroidal septic metastasis from acute bacterial endocarditis.

The clinical features of an infective embolic choroidopathy are described, from its early onset to late complications in a 45-year-old man with acute Staphylococcus aureus endocarditis of the aortic valve. Initial fundus examination revealed, in addition to fresh choroidal lesions, stigmata of a previous embolic episode secondary to endocarditis from Actinobacillus actinomycetemcomitans. The choroidal lesions were extremely asymmetrical, with a clear preference for localization in the left eye. Similar ocular findings were seen in a 78-year-old female with mitral valve prolapse and acute S. aureus endocarditis. In this case, however, choroidal involvement from septic emboli spread was bilateral and roughly symmetrical. Choroidal neovascular membranes arising in scars from choroidal septic emboli occurred in the macular area of the left eye of both patients, 10 months and 5 years after embolization, respectively.

Actinobacillus Infections↗

[Lausanne study of retinoblastoma, 1986-90: deletion of esterase D locus in a collective of 128 patients].

Activity and phenotype of red blood cell esterase D were systematically determined in a population of 128 retinoblastoma patients from 99 families and compared to 158 controls, in order to detect a chromosome 13q14 deletion. Among these patients 12 were healthy carriers and 116 affected carriers of a mutant allele of the retinoblastoma susceptibility gene (110 retinoblastoma, 5 retinoma, 1 phtisis bulbi). 4 patients were found to have decreased ESD levels in connection with 13q14 deletion which was confirmed by chromosome analysis. The data presented here suggest that ESD quantification has a high specificity and sensitivity for the detection of homogenous chromosome 13 deletions in retinoblastoma patients.

Carboxylesterase↗

Retinoma. Case studies.

The new concept of retinoma, or retinocytoma, brings up the rare 'spontaneous regressions' long-reported in the literature. Systematic investigation of all relatives of children suffering from retinoblastoma is showing up more and more retinoma cases undetected until now. From 1975 to 1990 the authors have identified 11 retinoma cases amongst 103 retinoblastoma patients and their families. The average age of the retinoma patients is 23 years with a mean follow-up of four years. There are four bilateral cases, one of which with phthisis bulbi, three unilateral retinomas associated with retinoblastoma of the fellow-enucleated eye, and four unilateral cases. Of the 11 retinomas, seven patients have a family history of retinoblastoma. Of the seven patients of procreating age, 16 offspring, three abortions and two miscarriages are noted. Of the 16 offspring, 12 developed retinoblastoma, 11 of which bilaterally. One 21-year-old patient presented in the process of malignant transformation. A child, enucleated for retinoblastoma of one eye and showing lesions conforming to retinoma in the fellow eye at two years of age, suffered an osteosarcoma when nine years old. The authors' data show that retinoblastoma and retinoma follow the same genetic changes and consequently require the same investigation and follow-up. This study indicates a frequency of retinoma of 10% amongst retinoblastoma patients and their families which is higher than that usually quoted.

Adult↗

[Treatment of retinoblastoma and results. Lausanne 1963-1989].

97 cases of retinoblastoma were studied with particular attention to methods of treatment and results. The series includes 41 unilateral cases (42%) and 56 bilateral cases (58%), giving a total of 153 eyes. Of these, 19 (20%) were familial cases. Immediate enucleation was necessary in 88 of the 153 eyes; 61 eyes received conservative treatment; 4 eyes, including one bilateral case, showed spontaneous recovery (retinomas). Conservative treatment consisted of high-voltage external beam irradiation in 43 cases, cryo or photocoagulation in 12 cases, and radioactive applicators in 6 cases. The mortality-rate in cases with over 2-years follow up is of 11%. In 65% of treated cases the eye was saved, with 87% of these retaining useful or central vision. The most serious complications are radiation retinopathy (19%), cataract (16%) and exsudative retinal detachment (9%).

Brachytherapy↗

Constitutional karyotype in retinoblastoma. Case report and review of literature.

High resolution karyotype was performed in 13 retinoblastoma patients. A mosaic pattern for del(13)(q14.1;q14.3) was found in a girl with sporadic bilateral retinoblastoma and midface dysmorphism. In addition, 162 cases of 13q aberrations were reviewed, including 140 retinoblastoma patients and 22 non-penetrance 13q14 deletions. Some epidemiological and genetic involvements are discussed.

Carboxylesterase↗

[Retinoblastoma and pseudoretinoblastoma: diagnostic study].

Between 1963 and 1987 admitted Lausanne University Eye Hospital 140 infants with suspected retinoblastoma. Of these, 98 (70%) were subsequently confirmed cases, while 42 (30%) were found to be suffering from a benign disorder. Among these pseudoretinoblastomas, Coats' disease was found to be the most prevalent (21%) in this study. The examination procedure is discussed and the importance of genetic research is emphasized.

Child↗

Cytogenetic analysis of 570 first trimester chorionic villi samplings: technique and results.

In this report we present our experience based on 570 chorionic villi samplings performed by the transcervical method at 8 to 12 weeks gestation. Cytogenetic results were obtained for 551 samples, hence a failure rate of 3.33%. The previously described technique was modified by prolonging the incubation period to 48 hours. The total number of abnormalities was 26, which represents 4.71% of our sample. Of 24 chromosomal abnormalities, 21 were unbalanced and 3 were balanced of parental origin. Five discordant cases are thoroughly discussed.

Chorionic Villi↗