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C Bonaïti

Publications and source records attributed to C Bonaïti.

13 recordsLinked to original sources
PubMed2005

[HNPCC syndrome (hereditary non polyposis colon cancer): identification and management].

BACKGROUND: The hereditary non-polyposis colon cancer (HNPCC) syndrome is an inherited condition defined by clinical and genealogical information, known as Amsterdam criteria. In about 70% of cases, HNPCC syndrome is caused by germline mutations in MMR genes, leading to microsatellite instability of tumor DNA (MSI phenotype). Patients affected by the disease are at high risk for colorectal and endometrial carcinomas, but also for other organs tumors. HNPCC syndrome is responsible for 5% of colorectal cancers. MAJOR ASPECTS: The lack of sensitivity of Amsterdam criteria in recognizing patients carrying a MMR germline mutation led to an enlargement of these criteria for the recruitment of possible HNPCC patients, and to a two-steps strategy, asking first for a tumor characterization according to MSI phenotype, especially in case of early-onset sporadic cases. FURTHER DEVELOPMENTS: The identification of germline MMR mutations has no major consequence on the cancer treatments, but influences markedly the long-term follow-up and the management of at-risk relatives. Gene carriers will enter a follow-up program regarding their colorectal and endometrial cancer risks; other organs being at low lifetime risk, no specific surveillance will be proposed.

Adolescent↗
PubMed2005

An iterative sensory procedure to select odor-active associations in complex consortia of microorganisms: application to the construction of a cheese model.

The aim of this study was to develop and validate an iterative procedure based on odor assessment to select odor-active associations of microorganisms from a starting association of 82 strains (G1), which were chosen to be representative of Livarot cheese biodiversity. A 3-step dichotomous procedure was applied to reduce the starting association G1. At each step, 3 methods were used to evaluate the odor proximity between mother (n strains) and daughter (n/2 strains) associations: a direct assessment of odor dissimilarity using an original bidimensional scale system and 2 indirect methods based on comparisons of odor profile or hedonic scores. Odor dissimilarity ratings and odor profile gave reliable and sometimes complementary criteria to select G3 and G4 at the first iteration, G31 and G42 at the second iteration, and G312 and G421 at the final iteration. Principal component analysis of odor profile data permitted the interpretation at least in part, of the 2D multidimensional scaling representation of the similarity data. The second part of the study was dedicated to 1) validating the choice of the dichotomous procedure made at each iteration, and 2) evaluating together the magnitude of odor differences that may exist between G1 and its subsequent simplified associations. The strategy consisted of assessing odor similarity between the 13 cheese models by comparing the contents of their odor-active compounds. By using a purge-and-trap gas chromatography-olfactory/mass spectrometry device, 50 potent odorants were identified in models G312, G421, and in a typical Protected Denomination of Origin Livarot cheese. Their contributions to the odor profile of both selected model cheeses are discussed. These compounds were quantified by purge and trap-gas chromatography-mass spectrometry in the 13 products and the normalized data matrix was transformed to a between-product distance matrix. This instrumental assessment of odor similarities allowed validation of the choice of G312 as the best 10-strain ecosystem.

Cheese↗
PubMed2004

Deacidification by Debaryomyces hansenii of smear soft cheeses ripened under controlled conditions: relative humidity and temperature influences.

Model smear soft cheeses were prepared from pasteurized milk inoculated with Debaryomyces hansenii (304, GMPA) and Brevibacterium aurantiacum (ATCC 9175) under aseptic conditions. Debaryomyces hansenii growth and curd deacidification were studied in relation to ripening chamber temperature and relative humidity (RH). A total of 9 descriptors, mainly based on kinetic data, were defined to represent D. hansenii growth (2 descriptors), cheese deacidification (5 descriptors), and cheese ripening (2 descriptors). Regardless of the temperature, when the RH was 85%, D. hansenii growth was inhibited due to limitation of carbon substrate diffusions; consequently, cheese deacidification did not take place. Debaryomyces hansenii growth was most prolific when the temperature was 16 degrees C, and the RH was 95%. Kinetic descriptors of lactate consumption and pH increase were maximal at 16 degrees C and 100% RH. Under these 2 ripening conditions, on d 14 (packaging) the creamy underrind represented a third of the cheese; however, at the end of ripening (d 42), cheese was too liquid to be sold. Statistical analysis showed that the best ripening conditions to achieve an optimum between deacidification and appearance of cheeses (thickness of the creamy underrind) were 12 degrees C and 95 +/- 1% RH.

Brevibacterium↗
PubMed1987

Studies on an isolated West Indies population. III. Epidemiologic study of sensorineural hearing loss.

An epidemiologic study of hearing loss was undertaken on a small Caribbean island and revealed a high frequency of abnormal audiograms among the population of French origin. Since there is no clear-cut discrimination between hypoacusis and normal hearing, but rather a continuous spectrum, the degree of hearing loss was quantified by an audiometric index, using the results of audiograms performed on 70% of the inhabitants. No environmental factors could be identified, although the effect of such factors is highly suggested by several observations of deafness aggravated by, or appearing after, a small dose of ototoxic antibiotics, and also by a strong residual age effect after correction for physiological presbyacusis. Hearing loss was found to be sparsed all over the island. Familial aggregation was noticed for several severe cases.

Adolescent↗
PubMed1986

Studies on an isolated West Indies population: IV. Genetic study of hearing loss.

Hearing troubles were found to be very frequent among inhabitants of French origin in a small Caribbean island. Segregation analysis of hearing loss was performed in 165 complete nuclear families and revealed that familial aggregation could be entirely explained by a single recessive gene with high frequency (0.40). Homozygous individuals for this gene would probably be more susceptible to ototoxic agents than other individuals. High frequency of this gene may be due to a founder effect.

Audiometry↗
PubMed1980

HLA genotype studies in juvenile insulin-dependent diabetes.

HLA genotypes were ascertained in 53 French Caucasian families, comprising 68 juvenile onset insulin-dependent diabetic siblings. Among the 49 alleles detected at different loci in the HLA complex (A, C, B, Bf, DR) 4 appeared to occur at a significantly higher frequency among the 53 index cases than in a control series of 116 healthy individuals: HLA-B18 (p < 10(-3)), DRw3, DRw4 and BfF1 (p < 10(-6)). The excess of HLA identical affected siblings confirms genotype disequilibrium and supports the hypothesis of an HLA-linked gene(s) conferring susceptibility. There was no increase of homozygosity for HLA DRw3 and DRw4 whereas there was a marked excess heterozygosity for HLA DRw3/DRw4 in diabetic patients (32% versus 0% in the control series, p < 0.001). These data provide evidence for the existence of two cooperating genes, linked to each of the HLA DR alleles.

Alleles↗
PubMed1980

Diseases having two classes of severity: estimation of the proportions of each manifestation by maximum likelihood.

In diseases having variable expressivity, the proportions of the different manifestations of the affection in the population may be different from the observed proportions in a sample when probabilities of ascertainment of these various manifestations are different from each other. This bias can be avoided by taking into account the respective probabilities of ascertainment of these manifestations and by estimating the proportions by maximum likelihood. In this paper, the method of estimation is developed for the particular case of two different phenotypes. Probabilities of observations are calculated, and scores and measures of information are derived. The different factors affecting the respective proportions of affected individuals are: the difference between probabilities of ascertainment of the two forms, the probability of ascertainment of the milder form, the proportion of the more severe form in the population, and the proportion of sibships with a single affected child in the population. The method is applied to published data on retinoblastoma. Validity of the assumptions is discussed and these assumptions are checked using the retinoblastoma data.

Eye Neoplasms↗
PubMed1979

Congenital glaucoma: genetic models.

Modes of inheritance of congenital glaucoma have been studied. Two methods of analysis, complex segregation analysis and frequency of congenital glaucoma in second- and third-degree relatives, did not permit one to retain a unitary mode of inheritance ofthis malformation. Genetic heterogeneity of congenital glaucoma is proposed. Recurrence risks and guidelines for genetic counseling in specified situations are given.

Adult↗
PubMed1978

Consanguinity in multifactorial inheritance. Application to data on congenital glaucoma.

The increase of parental consanguinity in multifactorial inheritance is evaluated by calculating the expected incidence of affected children whose parents are first cousins, using several values, namely for condition frequency and heritability of liability. This increase is compared to the expected increase in recessive inheritance, when one or more loci are involved. The method is illustrated by examples of recessive and multifactorial conditions and applied, as a test of discrimination between different modes of inheritance, to data on congenital glaucoma.

Consanguinity↗
PubMed1976

[Genetics of idiopathic scoliosis].

Families of 241 patients among 913 cases of idiopathic scoliosis were surveyed. The data suggest two possible modes of inheritance: either an autosomal dominant inheritance with incomplete penetrance and more frequent manifestation in girls than boys, or a genetic heterogeneity with a mixture of dominant and multifactorial modes of inheritance.

Abnormalities, Multiple↗
PubMedDate not supplied

Thyroid carcinomas after irradiation for a first cancer during childhood.

BACKGROUND: The thyroid gland is among the most radiosensitive organs. However, little is known about the long-term risk of developing a thyroid tumor after fractionated external radiotherapy for cancer during childhood. OBJECTIVE: To study the long-term risk of developing a thyroid tumor in 4096 three-year survivors of childhood cancer treated between May 1942 and December 1985 in 8 centers in France and the United Kingdom, 2827 of whom had received external radiotherapy. METHODS: A wide range of radiation doses were given to the thyroid: 1164 children received less than 0.5 Gy and 812 received more than 5.0 Gy, the average dose being 7.0 Gy. RESULTS: After mean follow-up of 15 years (range, 3-45 years), 14 patients-all of whom had received radiotherapy-developed a clinical thyroid carcinoma. Within the cohort, the relation between radiation dose to the thyroid and risk of thyroid carcinoma and adenoma was similar to that observed in patients who received radiotherapy during childhood for other reasons, such as an excess relative risk per gray of 4 to 8, up to a few gray. In contrast, compared with thyroid cancer incidence in the general population, the standardized incidence of thyroid carcinoma was much higher than expected from the dose-response relationship estimated within the cohort and from patients who received radiotherapy during childhood for other reasons: a dose of 0.5 Gy was associated with a standardized incidence ratio of 35 (90% confidence interval, 10-87) and a dose of 3.6 Gy with a standardized incidence ratio of 73 (90% confidence interval, 28-153). We did not show a reduction in excess relative risk per gray with use of an increasing number of fractions. CONCLUSION: Although we cannot estimate the exact proportion, it is probable that some or all children who are treated for cancer are predisposed to developing a thyroid carcinoma.

Adenoma↗