Preuve par l'ADN: la génétique au service de la justice

[Sommaire] Introduction. - Concepts biochimiques de base. - Concepts génétiques de base. - Quelques méthodes d'analyse de base en biologie. - Analyses génétiques - La caisse à outils de base. - Analyses génétiques - La caisse à outils spécialisée. - Les traces biologiques dans leur utilisation pratique. - Tests indicatifs et recherche des traces. - Quelques éléments d'évaluation probabiliste. - Au-delà du laboratoire. - Glossaire. - Index

Malaria in the state of Rio de Janeiro, Brazil, an Atlantic Forest area: an assessment using the health surveillance service

The lethality of malaria in the extra-Amazonian region is more than 70 times higher than in Amazonia itself. Recently, several studies have shown that autochthonous malaria is not a rare event in the Brazilian southeastern states in the Atlantic Forest biome. Information about autochthonous malaria in the state of Rio de Janeiro (RJ) is scarce. This study aims to assess malaria cases reported to the Health Surveillance System of the State of Rio de Janeiro between 2000-2010. An average of 90 cases per year had parasitological malaria confirmation by thick smear. The number of malaria notifications due to Plasmodium falciparum increased over time. Imported cases reported during the period studied were spread among 51% of the municipalities (counties) of the state. Only 35 cases (4.3%) were autochthonous, which represents an average of 3.8 new cases per year. Eleven municipalities reported autochthonous cases; within these, six could be characterised as areas of residual or new foci of malaria from the Atlantic Forest system. The other 28 municipalities could become receptive for transmission reintroduction. Cases occurred during all periods of the year, but 62.9% of cases were in the first semester of each year. Assessing vulnerability and receptivity conditions and vector ecology is imperative to establish the real risk of malaria reintroduction in RJ.

The Decision on Turkish EU accession in December 2002: The logic of anarchy, collective action problems and rhetorical action

Studies of the EU accession of the East and Central European Countries have stressed the importance of neo-liberal institutionalism as an explanation for Member State preferences. In this paper it is argued that Member States’ preferences over Turkish EU accession are better explained by power politics and neo-realism. It seems therefore that Turkey’s way to the EU follows another path than the East and Central Countries. Turkish accession raises the question of the EU’s role in a uni-polar world order – whether the EU should develop into an independent actor on the world stage or not. However, when it comes to the interaction among the Member States in order to decide on when to open accession negotiations with Turkey the constitutive values of the EU seriously modify the outcome that pure power politics would have let to.

Dominant PRPF31 Mutations Are Hypostatic to a Recessive CNOT3 Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of "Linked Trans-Acting Epistasis".

Mutations in PRPF31 are responsible for autosomal dominant retinitis pigmentosa (adRP, RP11 form) and affected families show nonpenetrance. Differential expression of the wildtype PRPF31 allele is responsible for this phenomenon: coinheritance of a mutation and a higher expressing wildtype allele provide protection against development of disease. It has been suggested that a major modulating factor lies in close proximity to the wildtype PRPF31 gene on Chromosome 19, implying that a cis-acting factor directly alters PRPF31 expression. Variable expression of CNOT3 is one determinant of PRPF31 expression. This study explored the relationship between CNOT3 (a trans-acting factor) and its paradoxical cis-acting nature in relation to RP11. Linkage analysis on Chromosome 19 was performed in mutation-carrying families, and the inheritance of the wildtype PRPF31 allele in symptomatic-asymptomatic sibships was assessed-confirming that differential inheritance of wildtype chromosome 19q13 determines the clinical phenotype (P < 2.6 × 10(-7) ). A theoretical model was constructed that explains the apparent conflict between the linkage data and the recent demonstration that a trans-acting factor (CNOT3) is a major nonpenetrance factor: we propose that this apparently cis-acting effect arises due to the intimate linkage of CNOT3 and PRPF31 on Chromosome 19q13-a novel mechanism that we have termed "linked trans-acting epistasis."

Portraying innovation in the public service of Brazil: Frameworks, systematization and characterization

ABSTRACT Innovation is essential for improving organizational performance in both the private and public sectors. This article describes and analyzes the 323 innovation experiences of the Brazilian federal public service that received prizes during the 16 annual competitions (from 1995 to 2012) of the Award for Innovation in Federal Public Management held by the Brazilian National School of Public Administration (ENAP). It is a qualitative and quantitative study in which were employed as categories for analysis the four types of innovation defined in the Copenhagen Manual: product, process, organizational and communication. The survey results allow us to affirm that there is innovation in the public sector, in spite of the skepticism of some researchers and the incipient state of theoretical research on the subject. It was possible to observe that organizational innovation was the one with the highest number of award- -winning experience, followed respectively by process, communication and product innovation, with citizen services and improvement of work processes being the main highlights. The results showed that, although the high incidence of innovation occurs at the national level, a significant number of innovations also occur at the local level, probably because many organizations of the federal government have their actions spread only at this level of government. Concerning the innovative area, health and education predominate, with almost 33% of initiatives, which can be explained by capillarity of these areas and the fact that both maintain a strong interaction with the user. The contributions of this work include the use of theoretical model of innovation analysis in the public sector in Brazil still upcoming, and the systematization of knowledge in empirical basis for this innovation. In this sense, it also contributes to the development of the theory with the presentation of evidence that the characteristics, determinants and consequences of innovation in the public sector differ not only from innovation in the industry, but also from innovation in services in the private sector.

A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa.

Retinitis pigmentosa (RP) is an inherited form of retinal degeneration that leads to progressive visual-field constriction and blindness. Although the disease manifests only in the retina, mutations in ubiquitously expressed genes associated with the tri-snRNP complex of the spliceosome have been identified in patients with dominantly inherited RP. We screened for mutations in PRPF6 (NM_012469.3), a gene on chromosome 20q13.33 encoding an essential protein for tri-snRNP assembly and stability, in 188 unrelated patients with autosomal-dominant RP and identified a missense mutation, c.2185C>T (p.Arg729Trp). This change affected a residue that is conserved from humans to yeast and cosegregated with the disease in the family in which it was identified. Lymphoblasts derived from patients with this mutation showed abnormal localization of endogenous PRPF6 within the nucleus. Specifically, this protein accumulated in the Cajal bodies, indicating a possible impairment in the tri-snRNP assembly or recycling. Expression of GFP-tagged PRPF6 in HeLa cells showed that this phenomenon depended exclusively on the mutated form of the protein. Furthermore, analysis of endogenous transcripts in cells from patients revealed intron retention for pre-mRNA bearing specific splicing signals, according to the same pattern displayed by lymphoblasts with mutations in other PRPF genes. Our results identify PRPF6 as the sixth gene involved in pre-mRNA splicing and dominant RP, corroborating the hypothesis that deficiencies in the spliceosome play an important role in the molecular pathology of this disease.

Service to Iowans Fiscal Year 2001 Annual Report, 2001

Annual Report for Iowa Workforce Development

Service to Iowans Fiscal Year 2002 Annual Report, 2002

Annual report for Iowa Workforce Development