[An economic evaluation of intimate partner violence in France]. / Evaluation économique des violences conjugales en France.

This study aims to carry out an economic evaluation of intimate partner violence in France. Using published data, institutional sources, field studies and expert opinions, the cost of intimate partner violence is estimated in terms of the overall cost to society. A range of different economic approaches are used (micro-economic, meso-economic and macro-economic approaches). The total cost of intimate partner violence in France is estimated at 2.5 billion Euros per year (between 1.7 and 3.5 billion Euros). The total cost of intimate partner violence includes healthcare costs (483 ? million), social and justice services (355 ? million), production losses as a result of deaths, imprisonments and absenteeism (1099 ? million), and the human costs of rape and prejudice (535 ? million). By increasing the budget allocated to the prevention of domestic violence by one euro, it is estimated that the state, health insurance and local authorities could make savings of up to 87 Euros of social spending, including 30 Euros of direct expenses.

Avoiding doubles in distributed nominative medical databases: optimization of the needleman and wunsch algorithm.

Difficulties in reconstituting patients' trajectory in the public health information systems are raised by errors in patients' identification processes. A crucial issue to achieve is avoiding doubles in distributed web databases. We explored Needleman and Wunsch (N&W) algorithm in order to optimize the properties of string matching. Five variants of the N&W algorithm were developed. The algorithms were implemented for a web Multi-Source Information System. This system was dedicated to tracking patients with End-Stage Renal Disease at both regional and national level. A simulated study database of 73,210 records was created. An insertion or suppression of each character of the original string was simulated. The rate of double entries was 2% given an acceptable distance set to 5 modifications. The search was sensitive and specific with an acceptable detection time. It detected up to 10% of modifications that is above the estimated error rate. A variant of the N&W algorithm designed as "cut-off heuristic", proved to be efficient for the search of double entries occurring in nominative distributed databases.

SIGNe: A Geographic Information System on the Web for End-Stage Renal Disease.

A Web-based Geographic Information System (Web-GIS), the SIGNe (Système d'Information Géographique pour la Néphrologie), was designed for the Renal Epidemiology and Information Network (REIN) dedicated to End-Stage Renal Disease (ESRD). This Web-GIS was coupled to a data warehouse and embedded in an n-tier architecture designed as the Multi-Source Information System (MSIS). It allows to access views of ESRD concerning the epidemiology of the demand and the supply of care. It also provides maps matching the offer of care to the demand. It is presented with insights on the design and underlying technologies. It is dedicated to professionals and to public health care decision-makers in the domain of ESRD.

A Multi-Source Information System via the Internet for End-Stage Renal Disease: Scalability and Data Quality.

A Multi-Source Information System (MSIS), has been designed for the Renal Epidemiology and Information Network (REIN) dedicated to End-Stage Renal Disease (ESRD). MSIS aims at providing reliable follow-up data for ESRD patients. It is based on an n-tier architecture, made out of a universal client, a dynamic Web server connected to a production database and to a data warehouse. MSIS is operational since 2002 and progressively deployed in 9 regions in France. It includes 11,500 patients. MSIS facilitates documenting medical events which occur during the course of ESRD patient' health care and provides means to control the quality of each patient's record and reconstruct the patient trajectory of care. Consolidated data are made available to a data warehouse and to a geographic information system for analysis and data representation in support of public-health decision making.

A Web-based GIS for health care decision-support.

This Web-based application allows to access views of End-Stage Renal Disease (ESRD) concerning the epidemiology of the demand and the supply of care. It is a Web-based Geographic Information System (Web-GIS), the SIGNe (Système d'Information Géographique pour la Néphrologie), designed for the Renal Epidemiology and Information Network (REIN) dedicated to ESRD. It is a visualisation and decision-support tool. This Web-GIS was coupled to a data warehouse and embedded in an n-tier architecture designed as the Multi-Source Information System (MSIS). It provides maps matching the offer of care to the demand. It is presented with insights on the design and underlying technologies. It is dedicated to professionals and to public health care decision-makers.

A dynamic Web application within an n-tier architecture: a Multi-Source Information System for end-stage renal disease.

A Multi-Source Information System (MSIS) has been designed for the Renal Epidemiology and Information Network (REIN) dedicated to End-Stage Renal Disease. Interoperability has been considered at 4 levels: semantics, network, formats and contents. An n-tier architecture has been chosen at the network level. It is made out of a universal client, a dynamic Web server connected to a production database and to a data warehouse. The MSIS is patient-oriented, based on a regional organization. Its implementation in the context of a regional experimentation is presented with insights on the design and underlying technologies. The n-tier architecture is a robust model and flexible enough to aggregate multiple information sources and integrate modular developments. The data warehouse is dedicated to support health care decision-making.

Hepatitis B virus-related insertional mutagenesis occurs frequently in human liver cancers and recurrently targets human telomerase gene.

Integration of Hepatitis B Virus (HBV) DNA into liver cell DNA has been well established, but its implication in liver carcinogenesis is still being debated. In particular, insertion of the viral genome into cellular genes has been viewed as a rare event. By using HBV-Alu PCR, we have now isolated, from nine hepatocellular carcinomas, nine HBV-DNA integration sites showing that the viral genome mutates key regulatory cellular genes: neurotropic tyrosin receptor kinase 2 (NTRK2) gene, IL-1R-associated kinase 2 (IRAK2) gene, p42 mitogen-activated protein kinase 1 (p42MAPK1) gene, inositol 1,4,5-triphosphate receptor type 2 (IP3R2) gene, inositol 1,4,5-triphosphate receptor (IP3R) type 1 (IP3R1) gene, alpha 2,3 sialyltransferase (ST3GAL VI or SITA) gene, thyroid hormone uncoupling protein (TRUP) gene, EMX2-like gene, and human telomerase reverse transcriptase (hTERT) gene. This result brings to 15 the total number of genes targeted by HBV in a study of 22 human liver cancers. Overall, we found that both the inositol 1,4,5-triphosphate receptor gene and the telomerase gene were targeted by HBV in two different tumors. Thus, HBV frequently targets cellular genes involved in cell signalling and some of them may be preferential targets of the viral integration.

Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.

The mapping and identification of respiratory chain deficiency genes is particularly tedious owing to the large number of genes encoding catalytic subunits and involved in respiratory chain (RC) assembly and maintenance. We have developed a functional complementation approach by: (i) growing the patient's fibroblasts in a highly selective medium; and (ii) transferring human chromosome fragments into RC-deficient fibroblasts by microcell-mediated transfer. In the absence of carbohydrates in the culture medium, the deficient cells rapidly disappeared unless they were rescued by a chromosome fragment carrying the disease gene. Microcells prepared from human:rodent Genebridge 4 panel of whole genome radiation hybrids were fused with fibroblast strains of two patients with complex II or I+IV deficiency and allowed to map the disease-causing genes to small intervals (4 and 12 Mb) on chromosomes 12p13 and 7p21, respectively. These intervals are similar to that obtained by genetic linkage analyses in large informative families. The recovery of normal RC enzyme activity in deficient skin fibroblasts supported the relevance of the transferred chromosome fragment in the disease. This approach makes the physical mapping of the disease genes feasible in some sporadic cases of RC deficiency.

[SIMS REIN: a multi-source information system for end-stage renal disease]. / SIMS REIN: un système d'information multi-sources pour l'insuffisance rénale terminale.

In France, the prevalence of End-Stage Renal Disease (ESRD) is not precisely known. The sources of information are scattered and not coordinated. Consequently, care is ill adapted to meet the demand. The Multi-Source Information System is the basis of the Renal Epidemiology and Information Network (REIN). It is dedicated to improve and organise our medical and epidemiological knowledge of ESRD and to aid public health decision-making in this area. The proposed approach is based on the datawarehouses. This model allows a unified vision of scattered data into distinct databases, for a better management, be it particular (patient follow-up) or global (regional follow-up), with a finality of aid in decision-making. Several categories of problems were considered: the global conception of the information system, the organisation of the datawarehouse, which offers different viewpoints of the data, the integration of heterogeneous data coming from different sources, data exchange and definition of a specific ontology.

Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.

Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid oxidation. CPT1 controls the import of long-chain fatty acids into the mitochondria, where they are oxidized. Two CPT1 isoforms, the so-called "liver" and "muscle" CPT1s encoded by the CPT1Aand CPT1Bgenes, respectively, have been identified so far. While the cDNA sequences of both isoforms are known, only CPT1Bgene organization has yet been described. We took advantage of the working draft data to characterize the organization of the human CPT1A gene. We have shown the existence of 20 exons, spanning 60 kb of DNA. Two alternate promoters and numerous transcription factor-binding sites were identified within the 5' upstream region of the gene. In the 3' untranslated region, the major polyA signal was suggested to lie about 2 kb downstream of the stop codon. These data enabled us to characterize six novel mutations in four CPT1A-deficient patients; namely Q100X (exon 4), A414 V (exon 11), Y498C (exon 13), 1876-1G>A (intron 15), a 113-bp intronic insertion in the mature CPT1A mRNA (exon 13-14 junction), and a large 8-kb deletion encompassing intron 14 to exon 17. Thus, identification of the CPT1A gene organization contributes to improve the molecular screening in patients and provides tools for the study of the human CPT1A gene expression.