RESUMEN
BACKGROUND: The public health burden resulting from infectious diseases requires efforts in surveillance and evaluation of health care. The use of administrative health databases (AHD) and in particular the French national health insurance database (SNIIRAM) is an opportunity to improve knowledge in this field. The SNIIRAM data network (REDSIAM) workshop dedicated to infectious diseases conducted a narrative literature review of studies using French AHD. From the results, benefits and limits of these new tools in the field of infectious diseases are presented. METHODS: Publications identified by the members of the workgroup were collected using an analytical framework that documented the pathology of interest, the aim of the study, the goal of the developed algorithm, the kind of data, the study period, and the presence of an evaluation or a discussion of the performance of the performed algorithm. RESULTS: Fifty-five articles were identified. A majority focused on the field of vaccination coverage and joint infections. Excluding vaccine coverage field, the aim of 28 studies was epidemiological surveillance. Twenty-six studies used hospital databases exclusively, 18 used ambulatory databases exclusively and 4 used both. Validation or discussion of the performed algorithm was present in 18 studies. CONCLUSIONS: The literature review confirmed the interest of the French AHD in the infectious diseases field. The AHD are additional tools of the existing surveillance systems and their use will probably be more frequent in the coming years given their advantage and reliability. However, incoming users need to be assisted. Thus, the workgroup will contribute to a reasonable use of AHD and support future developments.
Asunto(s)
Enfermedades Transmisibles/epidemiología , Bases de Datos Factuales , Programas Nacionales de Salud , Salud Pública/estadística & datos numéricos , Algoritmos , Bases de Datos Factuales/estadística & datos numéricos , Monitoreo Epidemiológico , Francia/epidemiología , Recursos en Salud/estadística & datos numéricos , Humanos , Programas Nacionales de Salud/estadística & datos numéricos , Salud Pública/normas , Vacunación/estadística & datos numéricosRESUMEN
Genetic epidemiology studies have suggested the responsibility of genetic factors in prostate cancer susceptibility. The development of genomic and high throughput genetic studies has allowed the recent identification or localization of such susceptibility genes. Furthermore, these technologies have contributed to outstanding advances in somatic genetics of prostate cancer. The goal of the present review is to disclose contributing technologies to and results of genetic studies of prostate cancer.
Asunto(s)
Predisposición Genética a la Enfermedad/genética , Neoplasias de la Próstata/genética , Aberraciones Cromosómicas/genética , Ligamiento Genético , Marcadores Genéticos , Humanos , Masculino , Neoplasias de la Próstata/epidemiologíaRESUMEN
Molybdenum cofactor deficiency (MoCoD) is a fatal disorder manifesting, shortly after birth, with profound neurological abnormalities, mental retardation, and severe seizures unresponsive to any therapy. The disease is a monogenic, autosomal recessive disorder, and the existence of at least two complementation groups suggests genetic heterogeneity. In humans, MoCoD leads to the combined deficient activities of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. By using homozygosity mapping and two consanguineous affected kindreds of Israeli-Arab origin, including five patients, we demonstrated linkage of a MoCoD gene to an 8-cM region on chromosome 6p21.3, between markers D6S1641 and D6S1672. Linkage analysis generated the highest combined LOD-score value, 3.6, at a recombination fraction of 0, with marker D6S1575. These results now can be used to perform prenatal diagnosis with microsatellite markers. They also provide the only tool for carrier detection of this fatal disorder.
Asunto(s)
Cromosomas Humanos Par 6/genética , Coenzimas/deficiencia , Ligamiento Genético/genética , Metaloproteínas/farmacología , Oxidorreductasas actuantes sobre Donantes de Grupos Sulfuro/deficiencia , Pteridinas/farmacología , Aldehído Oxidasa , Aldehído Oxidorreductasas/deficiencia , Aldehído Oxidorreductasas/genética , Mapeo Cromosómico , Coenzimas/genética , Femenino , Genes Recesivos/genética , Enfermedades Genéticas Congénitas/genética , Haplotipos/genética , Heterocigoto , Humanos , Escala de Lod , Masculino , Repeticiones de Microsatélite/genética , Cofactores de Molibdeno , Oxidorreductasas actuantes sobre Donantes de Grupos Sulfuro/genética , Linaje , Diagnóstico Prenatal , Xantina Deshidrogenasa/deficiencia , Xantina Deshidrogenasa/genéticaRESUMEN
There is genetic predisposition associated with >=10% of all cancer of the prostate (CaP). By means of a genomewide search on a selection of 47 French and German families, parametric and nonparametric linkage (NPL) analysis allowed identification of a locus, on chromosome 1q42.2-43, carrying a putative predisposing gene for CaP (PCaP). The primary localization was confirmed with several markers, by use of three different genetic models. We obtained a maximum two-point LOD score of 2.7 with marker D1S2785. Multipoint parametric and NPL analysis yielded maximum HLOD and NPL scores of 2.2 and 3.1, respectively, with an associated P value of . 001. Homogeneity analysis with multipoint LOD scores gave an estimate of the proportion of families with linkage to this locus of 50%, with a likelihood ratio of 157/1 in favor of heterogeneity. Furthermore, the 9/47 families with early-onset CaP at age <60 years gave multipoint LOD and NPL scores of 3.31 and 3.32, respectively, with P = .001.