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Biomedical subjects

S Aymé

Publications and source records attributed to S Aymé.

At least 19 recordsLinked to original sources
PubMed2006

[Use of a directory of specialized services and guidance in the healthcare system: the example of the Orphanet database for rare diseases].

BACKGROUND: Orphanet is a database of rare diseases which includes a directory of services providing information on professional experts working either in laboratories offering diagnostic tests or in specialized outpatient clinics. The printed directory is sent to these experts, to all relevant hospital departments (public and private), healthcare authorities, and patient support groups. The directory is also available online (www.orpha.net). The aims of this study were (i) to determine how the directory is used to refer patients and send specimens, and (ii) to investigate its impact on patient referral. METHODS: Data were obtained from experts and patient support groups concerned with rare diseases, as well from non-expert health professionals and patients. Emphasis was placed on knowledge of the Orphanet database, use of the directory as a tool for referrals, opinion of users about the quality of the directory, and opinion of the referenced experts about its possible impact on their referrals. Four methods of data collection were used: (i) a postal questionnaire to all referenced experts; (ii) an on-line questionnaire posted for a few hours on the Orphanet Website that had to be completed to access the site; (iii) interviews with 25 of the referenced experts; (iv) interviews with 35 leaders of patient organizations. Data were analysed using the chi2 test and logistic regression. RESULTS: Response rates were good: 74% of laboratory experts (224/304) and 68% of clinicians (459/678) answered the questionnaire. The responders proved to be representative. Among those who responded, 85% of the laboratory experts and 80% of clinician experts used Orphanet. More than two-thirds of them used Orphanet to identify (other) laboratories to them send specimens, and (other) clinicians for patient referral. Some non-expert hospital-based clinicians had nearly the same use. Patient support groups also used the directory. Persons using the directory happened to know Orphanet in their professional environment. Conversely, patients, non-MDs healthcare professionals and professionals in private practice discovered Orphanet using search engines, often when searching information about a rare disease. Of those who had already accessed the directory, most (94%) consider that the quality of the lists was "good" or" rather good". Among the experts, 29% of laboratories and 9% of clinicians considered that Orphanet had an impact on their referrals. CONCLUSION: The Orphanet directory is used to refer patients and specimens, especially by experts and patient organizations. It appears to have more impact on referrals within the healthcare system for laboratories than for specialized outpatient clinics. The impact is strong when expertise in the field is very scarce.

Databases as Topic↗
PubMed2001

Participation in maternal marker screening for Down syndrome: contribution of the information delivered to the decision-making process.

OBJECTIVE: In France, health care providers now have to fulfill two requirements before serum marker screening for Down syndrome can be carried out: provide a written statement confirming that they informed the pregnant woman about the test and obtain the woman's written consent. A survey was designed to assess: (1) women's opinion on the explanations they received when the screening test was offered and when test results were given, and (2) the decisions women planned to make in light of the test results (i.e. to carry out amniocentesis or not). METHODS: The survey was intended for all French pregnant women who underwent the serum marker screening test during the first week of October 1998. The questionnaire was sent to women via clinical laboratories (3,825 questionnaires were sent to the 54 laboratories authorized for Down syndrome screening in France). Besides chi(2) tests and tests of comparisons of paired proportions, we conducted a hierarchical clustering analysis and qualitatively analyzed the free comments provided by women. RESULTS: The response rate was 39% (n = 1,473). Explanations given by the provider at the time the test was offered were not clear and ample enough for 38.8% of women. Furthermore, 45.9% of women stated the same opinion about the explanations provided with the test results. Based on the test results, amniocentesis was recommended to 125 high-risk women; 20.8% of them were going to decline the offer or had not yet decided. Among low-risk women, 13% requested amniocentesis or had not yet decided. The opinion of these high- or low-risk women on the clarity and ampleness of the explanations provided with the test results was similar to that of high-risk women who wished to carry out amniocentesis. The hierarchical clustering analysis led us to identify clusters of women who mainly differed according to their opinion (anxious or reassured) on the explanations provided, regardless of their risk (high or low). CONCLUSION: Women's decision regarding screening for Down syndrome requires them to promptly integrate complex information on what the test is and entails. The question is then raised as to the type of information that is actually disclosed or that could be disclosed, based on how women value its contribution to decision-making.

Journal Article↗
PubMed2001

[Information disclosure when screening for trisomy 21: a decision-making aid for pregnant women?].

We examined the contribution to decision-making of the information that is disclosed to women confronted with the proposition of screening for Down syndrome and when receiving the results. This review highlights the main results of a survey initiated by the French Ministry of Health. The purpose of this survey was to assess the modalities of prescription and results communication of the test, and also to determine the women's opinion concerning the information they had received. A large percentage of the women were dissatisfied with the information received before the test prescription, a percentage that was even more marked when the test results were delivered. Information was frequently regarded as not contributing to the decision-making process about testing and the data analysis suggested that information may not be adequate to prepare women for the decisions implied in the test results. However, a direct relationship cannot be established between satisfaction with information and contribution of the information to decision making: information may be considered as contributing to the decision although women did not understand the explanations; the contribution to decision-making does not have the same meaning when the test is proposed as a routine test (i.e. a self-evident act) or not. Finally, from the women's point of view, to make the "best possible" decision would require that health professionals' preferences regarding the information to be disclosed converge with the women's expectations regarding information, and with their preferences concerning the implication of health professionals in the decision-making process. In an operational perspective, the use of information and decision-making aid instruments could facilitate the elicitation of preferences and expectations.

Attitude to Health↗
PubMed2000

Bridging the gap between molecular genetics and metabolic medicine: access to genetic information.

UNLABELLED: Thanks to the World Wide Web, most results of research in genetics are made available in public databases. At the present time there are resources on genetic diseases, genes and their location, mutations of already cloned genes and on laboratories performing the mutation analysis. The main resources on phenotypes are On-line Mendelian Inheritance in Man (OMIM), Pedbase, GeneClinics, London Dysmorphology Database (LDDB) and Orphanet. The main resources on human genes are, in addition to OMIM, the Genome Database, Genatlas and Genecard. There are also two major sequence databases. All of them can be queried using the OMIM number of the disease. Central databases of mutations, as well as locus specific databases have been created. Their list is maintained at the Human Genome Organisation mutation database initiative website. Several initiative have been taken to integrate all these data and help the clinician to find out quickly what he/she needs. The website of the National Center for Biotechnology Information is the best example of such an effort with sections on diseases, a genome guide, and locus links. Several databases of genetic testing resources have been established. GeneTests is an on-line genetics resource that contains a directory of North American laboratories providing testing for heritable disorders. Orphanet is a similar database on French services which is in the process of becoming a European database. CONCLUSION: Even if clinicians do not have as many services at their disposal as the molecular geneticists, various useful databases already exist and should no longer be ignored in practice.

Databases, Factual↗
PubMed2000

Tobacco and alcohol use during pregnancy and risk of oral clefts. Occupational Exposure and Congenital Malformation Working Group.

OBJECTIVES: This study examined the relationship between maternal tobacco and alcohol consumption during the first trimester of pregnancy and oral clefts. METHODS: Data were derived from a European multicenter case-control study including 161 infants with oral clefts and 1134 control infants. RESULTS: Multivariate analyses showed an increased risk of cleft lip with or without cleft palate associated with smoking (odds ratio [OR] = 1.79, 95% confidence interval [CI] = 1.07, 3.04) and an increased risk of cleft palate associated with alcohol consumption (OR = 2.28, 95% CI = 1.02, 5.09). The former risk increased with the number of cigarettes smoked. CONCLUSIONS: This study provides further evidence of the possible role of prevalent environmental exposures such as tobacco and alcohol in the etiology of oral clefts.

Adolescent↗
PubMed2000

Maternal occupational risk factors for oral clefts. Occupational Exposure and Congenital Malformation Working Group.

OBJECTIVES: This study investigated the role of maternal exposures at work during pregnancy in the occurrence of oral clefts. METHODS: The occupational exposures of 851 women (100 mothers of babies with oral clefts and 751 mothers of healthy referents) who worked during the first trimester of pregnancy were studied. All the women were part of a multicenter European case-referent study conducted using 6 congenital malformation registers between 1989 and 1992. In each center, the mother's occupational history, obtained from an interview, was reviewed by industrial hygienists who were blinded to the subject's status and who assessed the presence of chemicals and the probability of exposure. Odds ratios (OR) were estimated by a multivariate analysis including maternal occupation or occupational exposures during the first trimester of pregnancy and possible confounding factors such as center of recruitment, maternal age, urbanization, socioeconomic status, and country of origin. RESULTS: After adjustment for confounding factors, cleft palate only was significantly associated with maternal occupation in services such as hairdressing [OR 5.1, 95% confidence interval (95% CI) 1.0-26.0] and housekeeping (OR 2.8, 95% CI 1.1-7.2). The analysis suggests that the following occupational exposures are associated with orofacial clefts: aliphatic aldehydes (OR 2.1, 95% CI 0.8-5.9) and glycol ethers (OR 1.7, 95% CI 0.9-3.3) for cleft lip with or without cleft palate and lead compounds (OR 4.0, 95% CI 1.3-12.2), biocides (OR 2.5, 95% CI 1.0-6.0), antineoplastic drugs (OR 5.0, 95% CI 0.8-34.0), trichloroethylene (OR 6.7, 95% CI 0.9-49.7), and aliphatic acids (OR 6.0, 95% CI 1.5-22.8) for cleft palate only. CONCLUSIONS: Due to the limited number of subjects, these results must be interpreted with caution. However, they point out some chemicals already known or suspected as reproductive toxins.

Adult↗
PubMed1999

Therapeutic drug use during pregnancy: a comparison in four European countries. OECM Working Group. Occupational Exposures and Congenital Anomalies.

A drug utilization study was performed using data of the OECM study on Occupational Exposures and Congenital Malformations, which was conducted in six European Registries of Congenital Anomalies (two in France, two in Italy, one in Great Britain, and one in The Netherlands): the mothers were interviewed after delivery for exposures during pregnancy, including use of therapeutic drugs. The analysis of drug use considered only the 1134 control mothers of healthy newborns, and focused on the first trimester of pregnancy: 36.2% of the interviewed mothers used at least one drug (excluding vitamins and minerals) during the first trimester. This rate varied from 22.5% in Glasgow to 50.3% and 44.2% in the French centers. Anti-infectives were the most frequent drugs (12.3% of mothers), then antinauseants (10.6%), and treatments for threatened abortion (5.5%). Important variations between countries were observed, reflecting different medical attitudes towards drug use during pregnancy.

Adult↗
PubMed1998

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.

The Rubinstein-Taybi syndrome (RTS) is a well-defined entity characterized by growth and mental retardation, broad thumbs and halluces, and typical face. The RTS locus was assigned to 16p13.3, and interstitial submicroscopic deletions of this region (RT1 cosmid, D16S237) were initially identified in 25% of RTS patients. The gene for the human CREB binding protein, the transcriptional coactivator CBP, is included in the RT1 cosmid, and mutations in CBP have recently been identified in nondeleted RTS patients. We investigated 30 French patients with RTS. Among these patients, 3 had the RT1 microdeletion (frequency 10%). There is no obvious phenotypic difference between the patients with and without the RT1 deletion. The RT1 probe appears useful for confirmation of the diagnosis but is of little interest as a screening tool. By pooling data including the previous series and our current series, the cumulative frequency of the 16p13.3 microdeletion is 11.9% (19 in 159). This frequency of approximately 12% deleted patients appears more accurate than the 25% previously reported. Molecular investigations of CBP are in process in our series to clarify the cause of RTS.

CREB-Binding Protein↗
PubMed1998

Adoption and fostering of babies with Down syndrome: a cohort of 593 cases.

Recently, professionals in France have noticed an increase in newborns with Down syndrome (DS) being placed for adoption. The aim of this study was to investigate DS babies given up at birth for adoption and to consider the possible determinants of this in order to assess social acceptance of DS. A retrospective cohort of all living DS babies was collected from two birth-defect registries (Paris: 1981-1990; Marseilles area: 1984-1990). Follow-up data were collected: characteristics of the baby, biological parents and maternity units, age when given up for adoption, and type of foster care. The results showed that 19.4 per cent of infants with DS (115/593) were rejected by their parents. Multiple regression analysis indicated that foreign origin of the mother, area of residence, no associated major malformation, maternal age (15-24 years), and birth rank (> 2) variables were significantly associated with a lower placement rate. Among the 115 abandoned infants with DS, 88 came from unknown parentage (76.5 per cent). For half of them, adoptive placement (88/115) occurred before the age of 6 months. Socio-cultural attitudes play a great part in these family decisions. Equally important is the manner in which professionals propose adoption as an alternative to these parents of DS babies. They should be encouraged to consider all options before making a decision, so that the best solution can be found for the interest of all.

Adolescent↗
PubMed1997

Congenital malformation and maternal occupational exposure to glycol ethers. Occupational Exposure and Congenital Malformations Working Group.

Glycol ethers are found in a wide range of domestic and industrial products, many of which are used in women's work environments. Motivated by concern about their potential reproductive toxicity, we have evaluated the risk of congenital malformations related to glycol ether exposure during pregnancy as part of a multicenter case-control study, conducted in six regions in Europe. The study comprised 984 cases of major congenital malformations and 1,134 controls matched for place and date of birth. Interviews of the mothers provided information about occupation during pregnancy, sociodemographic variables, and other potential risk factors (medical history, tobacco, alcohol, drugs). A chemist specializing in glycol ethers evaluated exposure during pregnancy, using the job description given by the mother, without knowledge of case or control status. We classified malformations into 22 subgroups. The overall odds ratio (OR) of congenital malformation associated with glycol ether exposure was 1.44 [95% confidence interval (CI) = 1.10-1.90], after adjustment for several potential confounders. The association with exposure to glycol ethers appeared particularly strong in three subgroups: neural tube defects (OR = 1.94; 95% CI = 1.16-3.24), multiple anomalies (OR = 2.00; 95% CI = 1.24-3.23), and cleft lip (OR = 2.03; 95% CI = 1.11-3.73). In this last subgroup, risk, especially of an isolated defect, tended to increase with level of exposure.

Abnormalities, Drug-Induced↗
PubMed1997

Prenatal diagnosis in France.

Prenatal diagnosis (PND) is very developed in France, especially in the area of ultrasound (US) screening. The activity is regulated by law, and laboratories have to be authorized to perform any type of prenatal biological test if the purpose is to diagnose fetal defects. There are 70 cytogenetics laboratories and 50 biochemistry laboratories performing serum marker screening, about half of them being private. PND of chromosomal anomalies is offered to women over 37 years of age, to women who already had a child with a chromosomal anomaly, in case of abnormal US findings, if one of the parents has a balanced chromosomal anomaly and if the risk of chromosomal anomaly is higher than 1:250 according to the serum markers. Half of the trisomy 21 cases are now detected prenatally and pregnancies terminated. Fetal cell sampling is performed by amniocentesis in 70% of cases, by chorionic villus sampling in 7% of cases and by fetal blood sampling in 23% of cases. There are no professional guidelines and no quality assessment networks for any of the techniques in use. PND is regulated by two major laws: the Law on Abortion (1975) and the Law on Bioethics (1994).

Adult↗
PubMed1996

Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation.

In 1993, Suthers et al. reported on a child with an undiagnosed syndrome associating developmental delay, brachycephaly, deafness and cataracts. They discussed the possibility that this child had the same dysmorphic syndrome as the patient reported by Fine and Lubinsky in 1983. Twenty years ago, we examined a very similar patient who has been followed up to now. When she was a baby, she looked extremely similar to another patient, reported by Preus et al. in 1984. We now think that these four patients have in fact the same syndrome, the patient reported by Fine and Lubinsky being an example of a very severe expression of this condition, the other patients expressing different anomalies depending on the age at examination.

Abnormalities, Multiple↗