Extrant A.1.2 - recherches - rapport de recherche

Cette note de recherche porte sur la situation d‘embargo de fait de l’activité artisanale des minerais précieux et semi-précieux qui a cours dans la région du Kivu en République Démocratique du Congo (RDC). Le paragraphe 1502 du Dodd-Frank Act et les campagnes dans l’opinion publique étatsunienne contre les « minerais du sang » ont une noble origine, mais entraînent localement des effets désastreux. Bien qu’il existe par-ci par-là quelques données chiffrées sur ces effets, aucune recherche systématique n’a été entreprise pour chiffrer ces conséquences. Or parvenir à chiffrer les effets directs et indirects de cet impact dans un document synthétique servira grandement la cause du sérieux des organisations de la société civile locale dans leur traitement de la situation créée par l’application du paragraphe 1502 de la loi Dodd-Frank. Les conséquences de cet embargo de fait portent aussi bien sur la baisse radicale de revenus des ménages que sur la fréquentation scolaire et sur la morbidité due au manque de moyens pour acquitter les frais des soins médicaux. L’auteur de cette note s’intéresse précisément aux enjeux économiques à partir de leur expérience des filières : or, cassitérite, « coltan » et wolframite. Il propose une démarche de recherche méthodologique axée sur différents indicateurs permettant de mesurer l’impact économique de cet embargo de fait sur les populations locales concernées

Mutations in Radial Spoke Head Genes and Ultrastructural Cilia Defects in East-European Cohort of Primary Ciliary Dyskinesia Patients

Primary ciliary dyskinesia (PCD) is a rare (1/20,000), multisystem disease with a complex phenotype caused by the impaired motility of cilia/flagella, usually related to ultrastructural defects of these organelles. Mutations in genes encoding radial spoke head (RSPH) proteins, elements of the ciliary ultrastructure, have been recently described. However, the relative involvement of RSPH genes in PCD pathogenesis remained unknown, due to a small number of PCD families examined for mutations in these genes. The purpose of this study was to estimate the involvement of RSPH4A and RSPH9 in PCD pathogenesis among East Europeans (West Slavs), and to shed more light on ultrastructural ciliary defects caused by mutations in these genes. The coding sequences of RSPH4A and RSPH9 were screened in PCD patients from 184 families, using single strand conformational polymorphism analysis and sequencing. Two previously described (Q109X; R490X) and two new RSPH4A mutations (W356X; IVS3_2–5del), in/around exons 1 and 3, were identified; no mutations were found in RSPH9. We estimate that mutations in RSPH4A, but not in RSPH9, are responsible for 2–3% of cases in the East European PCD population (4% in PCD families without situs inversus; 11% in families preselected for microtubular defects). Analysis of the SNP-haplotype background provided insight into the ancestry of repetitively found mutations (Q109X; R490X; IVS3_2–5del), but further studies involving other PCD cohorts are required to elucidate whether these mutations are specific for Slavic people or spread among other European populations. Ultrastructural defects associated with the mutations were analyzed in the transmission electron microscope images; almost half of the ciliary cross-sections examined in patients with RSPH4A mutations had the microtubule transposition phenotype (9+0 and 8+1 pattern). While microtubule transposition was a prevalent ultrastructural defect in cilia from patients with RSPH4A mutations, similar defects were also observed in PCD patients with mutations in other genes

In vitro culturing of ciliary respiratory cells—a model for studies of genetic diseases

Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by the impaired functioning of ciliated cells. Its diagnosis is based on the analysis of the structure and functioning of cilia present in the respiratory epithelium (RE) of the patient. Abnormalities of cilia caused by hereditary mutations closely resemble and often overlap with defects induced by the environmental factors. As a result, proper diagnosis of PCD is difficult and may require repeated sampling of patients’ tissue, which is not always possible. The culturing of differentiated cells and tissues derived from the human RE seems to be the best way to diagnose PCD, to study genotype–phenotype relations of genes involved in ciliary dysfunction, as well as other aspects related to the functioning of the RE. In this review, different methods of culturing differentiated cells and tissues derived from the human RE, along with their potential and limitations, are summarized. Several considerations with respect to the factors influencing the process of in vitro differentiation (cell-to-cell interactions, medium composition, cell-support substrate) are also discussed

Les événements du 23-24 Février à Bukavu et leurs suites.

Document collected by the University of Texas Libraries from the web-site of the Reseau Documentaire International Sur La Region Des Grands Lacs Africains (International Documentation Network on the Great African Lakes Region). The Reseau distributes "gray literature", non-published or limited distribution government or NGO documents regarding the Great Lakes area of central Africa including Rwanda, Burundi, and the Democratic Republic of Congo.UT Librarie

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Not AvailableAbstract: Essential oil was isolated from three local varieties and three advanced breeding lines of coriander by hydro-distillation of whole herbs and leaves at vegetative and flowering stages and analyzed by GC. The essential oil yields varied from 0.03 to 0.06 ml/100g in case of whole herbs and from 0.04 to 0.12 ml/100g in leaf samples. Altogether 26 compounds were identified with decanol, (E)-2-decen-1-ol, decanal, (E)-2-undecen-1-ol, (E)-2-dodecenol and (E)-2-tetradecenal as the major compounds. The percentage of identified compounds ranged from 83.92 to 96.45% except in one herb oil (Surabhi, vegetative stage), which was 75.44%. Significant compositional differences were observed between herb oils and leaf oils both at vegetative and flowering stagesNot Availabl

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

BACKGROUND: Primary ciliary dyskinesia (PCD) is characterised by recurrent infections of the upper respiratory airways (nose, bronchi, and frontal sinuses) and randomisation of left-right body asymmetry. To date, PCD is mainly described with autosomal recessive inheritance and mutations have been found in five genes: the dynein arm protein subunits DNAI1, DNAH5 and DNAH11, the kinase TXNDC3, and the X-linked retinitis pigmentosa GTPase regulator RPGR. METHODS: We screened 89 unrelated individuals with PCD for mutations in the coding and splice site regions of the gene DNAH5 by denaturing high performance liquid chromatography (DHPLC) and sequencing. Patients were mainly of European origin and were recruited without any phenotypic preselection. RESULTS: We identified 18 novel (nonsense, splicing, small deletion and missense) and six previously described mutations. Interestingly, these DNAH5 mutations were mainly associated with outer + inner dyneins arm ultrastructural defects (50%). CONCLUSION: Overall, mutations on both alleles of DNAH5 were identified in 15% of our clinically heterogeneous cohort of patients. Although genetic alterations remain to be identified in most patients, DNAH5 is to date the main PCD gene