Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.

Background: Ataxia-telangiectasia (A-T) is a rare genetic disease caused by germline biallelic mutations in the ataxia-telangiectasia mutated gene (ATM) that result in partial or complete loss of ATM expression or activity. The course of the disease is characterized by neurologic manifestations, infections, and cancers.

Objective: We studied A-T progression and investigated whether manifestations were associated with the ATM genotype.

CEMARA an information system for rare diseases.

Rare diseases cover a group of conditions characterized by a low prevalence, affecting less than 1 in 2,000 people; 5000 to 7000 rare diseases have been currently identified in Europe. Most diseases do not have any curative treatment. They represent thus an important public health concern.

Epidemiology and outcome of invasive fungal diseases in patients with chronic granulomatous disease: a multicenter study in France.

Background: Chronic granulomatous disease (CGD) is a rare inherited phagocytic disorder resulting in an increased susceptibility to infections including invasive fungal diseases (IFDs) and inflammatory complications. This study is aimed at assessing the incidence, prevalence, and outcome of IFDs among CGD patients followed in France.

Methods: CGD patients were identified through the French national registry for primary immunodeficiencies (PID) held by the French national reference Centre of PID (Centre de Référence Déficits Immunitaires Héréditaires), which comprises a total of 3083 patients including 155 with CGD followed between 1976 and 2008.

Equity of accessibility to dialysis facilities.

Patients' end-stage renal disease (ESRD) characteristics are changing. Improving the quality of care requires a steady adaptation of treatment modalities together with equity of access to dialysis facilities. We explored the ability of the health system to cope with the demand of ESRD care.

An XML schema for automated data integration in a Multi-Source Information System dedicated to end-stage renal disease.

Data exchange and interoperability between clinical information systems represent a crucial issue in the context of patient record data collection. An XML representation schema adapted to end-stage renal disease (ESRD) patients was developed and successfully tested against patient data in the dedicated Multi-Source Information System (MSIS) active file (more than 16,000 patient records). The ESRD-XML-Schema is organized into Schema subsets respecting the coherence of the clinical information and enriched with coherent data types.

CEMARA: a Web dynamic application within a N-tier architecture for rare diseases.

Rare diseases include a group of conditions characterized by a prevalence lower than 5 per 10,000 in the community. In France, any rare disease affects less than 30,000 patients and often much less. Three to 4% of children and 6% of the population in Europe are affected.

Log files analysis to assess the use and workload of a dynamic web server dedicated to 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 (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.

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.

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.

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.

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.