[Medical histories of patients with Marfan's syndrome]. / Les trajectoires médicales des personnes atteintes par le syndrome de Marfan.

The life expectancy of patients with Marfan's syndrome has been increased by over 30 years by modern medico-surgical management but the diagnostic problems related to the multiplicity of symptoms and the necessity of collaboration by many specialities complicate the medical history of patients, which is largely unknown. The authors sent a self-administered questionnaire to 1 353 patients with Marfan's syndrome to obtain this information. Of the 430 questionnaires returned, as many by men as by women, the diagnosis of the disease was made in less than half the cases by clinical symptoms (42%): the investigation of an unrelated clinical problem (39%) or a family enquiry (19%) also led to the diagnosis. The delay between the first symptoms of the disease and first medical consultation (usually cardiological or ophthalmic) was long (5.2 years) as was the interval between the first consultation and the diagnosis (2.8 years). However, the population could be divided into two groups. one with rapid access to the physician (< 1 year) and to the diagnosis (< 3 years) and the second group in which the delays are long. When the diagnosis of Marfan's syndrome is made following consultation for an unrelated condition, it is more often delayed and the patient is usually older. The delay in diagnosis observed could be shortened by systematic familial enquiries and better information to physicians who could then suspect the diagnosis before the advent of clinical symptoms.

[Screening for diabetes in France: data from the 2000-2001 cohort of the national medical insurance system]. / Dépistage du diabète: les données de l'Echantillon Permanent des Assurés Sociaux, 2000-2001.

BACKGROUND: Type 2 diabetes mellitus may go undiagnosed for several Years while complications are silently developing. In France, from 2 to 3.7% of adults aged 35-65 are unaware they have diabetes. Nevertheless fasting serum glucose is a simple diagnostic test. METHODS: We described people who underwent opportunist diabetes screening (serum glucose) within 2 Years (2000-2001). We used the administrative EPAS cohort from the employee National Health Insurance System which covers 70% of the total population in France. The data are based on reimbursements of glucose testing and hospitalization among people who did not received reimbursements of treatment for diabetes but used medical services during the 2 Years. RESULTS: The opportunistic screening rate within 2 Years was 48.6% overall and increased with age. Among those 45 Years old or older, it was 71.2%. The screening rate was higher among women than men. CONCLUSION: Opportunistic screening for diabetes is commonly practised in France, despite the lack of official guidelines. Several hypotheses may explain the discrepancy between common opportunist screening and high prevalence of undiagnosed diabetes: 1). undiagnosed diabetes is mostly present in people who do not use medical services; 2). opportunistic screening is not performed among the most at-risk population; 3). testing is not performed on fasting samples or results are neglected; 4). results of testing are overlooked by doctors/patients; 5). epidemiological studies based on self-report of diagnosis and only one testing overestimate undiagnosed diabetes.

[Diagnostic management of patients with rare genetic diseases: example of five pathologies]. / Prise en charge diagnostique des patients atteints de maladies génétiques rares: exemple de cinq pathologies.

BACKGROUND: Orphan diseases are serious and unknown chronic diseases, for which a rapid diagnosis may provide a better access to healthcare. The aim of this study was to describe the procedures of diagnosis for patients with such ailments. METHODS: Self-administered questionnaires describing patient's behavior, medical examinations until the final diagnosis, as well as received medical care and financial support, were directly sent to the patients through patient associations and special examinations dedicated to rare diseases. RESULTS: 532 patients were included, suffering from 5 different diseases. Although the average delay between the appearance of symptoms and diagnosis is 2 years and 8 months, this hides great disparities (from 0 to 40 years) and half of the patients were diagnosed within 4 months. The study shows that the diagnosis management is influenced by the illness and its symptoms as well as by the characteristics of the first medical examination. CONCLUSIONS: The diagnosis management of patients with rare diseases is strongly determined by personnel initiatives or exceptional opportunities, rather than by a real organisational strategy of the healthcare system.

Transfer of DNA tests from research to routine laboratories: some lessons from the French experience in the case of Duchenne muscular dystrophy.

In the last few years, the activity of research laboratories has led to the emergence of new DNA diagnostic tests in France. They permit the origin of genetic diseases to be identified and provide an answer concerning the detection of carriers and prevention. Nevertheless, given this, new actors have emerged on the health care scene: the research workers who developed the tests and who work in public research laboratories. The economic question of the transfer of the test practice from research to hospital laboratories is the main topic of this paper, taking Duchenne Muscular Dystrophy (DMD) DNA diagnostic tests as the example. After a presentation of the complexity of DNA tests for DMD, the fact that financial and human constraints do not allow the actors to continue to produce the DNA tests is discussed. The financial role of the non-profit-making associations is then explained and leads to the conclusion that a more global policy on DNA tests, such as carried out in the UK and the Netherlands, should be adopted in France by the Social Security if it wants DNA testing activity to be pursued.

[Comparative analysis of the costs of cytogenetic techniques and molecular biology techniques in the diagnosis of fragile X disease]. / Analyse comparée du coût des techniques cytogénétiques et de biologie moléculaire dans le diagnostic de la maladie de l'X fragile.

Mental retardation is sometimes due to chromosomal abnormalities. Most frequent illnesses are Down syndrome and Fragile X syndrome. Using a cost analysis, we try to see what diagnosis method is the most relevant to find chromosomic causes for mental retardation in an institutionalized male population. Two techniques are compared: cytogenetic technique and molecular biology technique. Four diagnostic strategies are identified. They all have the same effectiveness, but, costs vary. Results depend on prevalence rates in the epidemiologic literature on Fragile X syndrome and other chromosomic abnormalities. The least-cost diagnostic strategy is molecular biology then constitutional karyotype in case of a negative result. This strategy costs about 600 FF1991 less compared with Fragile X karyotype and about 120 FF1991 less than when molecular biology is done in second, for fixed prevalence rates (i.e. Fragile X prevalence rate between 4.5 and 10% and other abnormalities between 2.2 and 25%). Fragile X karyotype strategy has the highest cost whatever the prevalence rates. Those results are discussed when introducing female population and delay to test results for prenatal diagnosis.