Evaluation of OSMOCELLS, a new semi-automatic device for osmotic fragility assessment.

INTRODUCTION: The osmotic fragility (OF) test was a central test for the diagnosis of hereditary red blood cell (RBC) disorders (mostly hereditary spherocytosis (HS), but thalassaemia as well). Nowadays although the traditional multitubes method has lost a prominent place, many laboratories still perform such a laboured test, despite the lack of standardization. In fact, the evaluation of OF may offer an inexpensive screening for RBC disorders. We present a new semi-automatic device, allowing the continuous recording of OF, by an updated dialysis method. METHODS: Repeatability, stability over time, influence of the anticoagulant were evaluated among a population of healthy blood donors. The test was then performed among patients presenting inherited RBC disorders (HS or haemoglobinopathies) where OF is typically altered. RESULTS: Repeatability was excellent; the parameters were greatly influenced by the nature of the anticoagulant and interestingly appeared stable for 48 h. Patients with RBC disorders displayed the expected profile in regard with their disease: patients with HS all presented an increased OF while patients with haemoglobinopathy displayed resistant profiles. CONCLUSION: The device offers a substantial improvement in terms of standardization and consistency of the results and may offer a considerable gain for general laboratories.

Genetics and epidemiology of Wilms' tumor: the French Wilms' tumor study.

A complete family history was obtained for 501 patients with Wilms' tumor, treated in departments of pediatric oncology in whole France. The information was collected by self-questionnaire and/or by interview of parents. The proportion of bilateral cases is 4.6% and there are 12 patients (2.4%) with a positive family history of Wilms' tumor. The affected relatives are most often distant and no first degree relative was affected. Apart from the well-known associations with aniridia, hemihypertrophy, genitourinary anomalies, Beckwith-Wiedeemann, and Drash syndromes, there is also a significant excess of congenital heart defects (P = .008) which remains to be explained. Several findings support the bimutational hypothesis such as earlier diagnosis and increased parental age in bilateral cases. No particular anomalies and no increased frequency of childhood cancer were found in patients' relatives. The frequency of Wilms' tumor in relatives was estimated to be less than 0.4% in sibs, 0.06% in uncles and aunts, and 0.04% in first cousins. These figures are very different from those found in retinoblastoma and suggest that the mechanism may be more complex in Wilms' tumor. This conclusion is in agreement with molecular biology studies in tumors and linkage analysis in multiple case families which suggest that more than one locus is involved.

[Registries of cancer in children in France]. / Les registres des cancers de l'enfant en France.

The specificity of childhood cancers and the lack of available incidence data in Europe (with the exception of the Manchester and Turin registries) led to the creation of two French regional childhood cancer registries (CCR), in Nancy (1983) and Marseille (1984); both are population based CCR, respectively covering 535,236 and 809,196 children (0 to 14 years). All malignant neoplasms, brain tumours (whatever the grading) and borderline malignancies are included. Data have been collected from medical and administrative sources. Registration is active and each source is recontacted annually. The registries contact all physicians who might include children among their patients (private and hospital practice) and pathology-cytology laboratories. The University Hospital Centers and Anti-Cancer Centers in adjacent regions and in Paris are contacted. Data collected are the following: name, age, sex, address, time and method of diagnosis, histology, anatomical site, stage, treatment and sources of information. We combined our own data with those of a general cancer registry, set up in Strasbourg in 1975 and covering 205,889 children. The reliability of the methodology is attested by the similarity of results to those obtained in other European, US and Australian CCR. This type of registry is needed for organizing studies on the descriptive, analytical and experimental epidemiology in pediatric oncology.

[Childhood cancer registries in France]. / Les registres des cancers de l'enfant en France.

Following the well-known European CCRs of Manchester and Turin, 2 regional CCRs have been recently created in France: in Nancy (1983) and Marseille (1984); both are population based CCRs, covering respectively 535,200 and 809,200 children (0-14 yrs). All malignant neoplasms are included, as well as brain tumours (whatever grading) and borderline malignancies. Data are collected from medical and administrative sources. Registration is active and every source is recontacted annually. The registries contact all physicians who might include children among their patients (private and hospital practice), and laboratories of pathology-cytology. The University Hospital Centers and Anti-Cancer Centers in adjacent regions, and in Paris are contacted. Death certificates for children dying of a malignant neoplasm are also sent to the registry. Data collected are as follows: name, age, sex, address, date and method of diagnosis, histological type, anatomical site, stage, treatment and sources of information. We added the data of a general cancer registry, created in Strasbourg in 1975 and covering 205,900 children. reliability of the methodology is attested by the similarity of the results obtained in other European, US and Australian CCRs. In conclusion, this type of registry is needed to organize multicentric epidemiological studies about the role of etiological factors, the survival, and the long term sequelae.