17 research outputs found
RISEO 2022 - numéro spécial. Crises et Espaces : Questionnements, implications et effets
International audienc
A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis
International audienceBACKGROUND:Analysis of cell-free fetal DNA in maternal plasma is very promising for early diagnosis of monogenic diseases. However, it has been limited by the need to set up patient- or disease-specific custom-made approaches. Here we propose a universal test based on fluorescent multiplex PCR and size fragment analysis for an indirect diagnosis of cystic fibrosis (CF).METHODS:The test, based on haplotyping, includes nine intra- and extragenic short tandem repeats of the CFTR locus, the coamplification of p.Phe508del (the most frequent mutation in CF patients worldwide), and a specific SRY sequence. The assay is able to determine the inherited paternal allele.RESULTS:Our simple approach was successfully applied to 30 couples and provided clear results from the maternal plasma. The mean rate of informative markers was sufficient to propose it for use in indirect diagnosis.CONCLUSIONS:This noninvasive prenatal diagnosis test, focused on indirect diagnosis of CF, offers many advantages over current methods: it is simple, rapid, and cost-effective. It allows for the testing of a large number of couples with high risk of CF, whatever the familial mutation of the CFTR gene. It provides an alternative method to reduce the number of invasive tests
A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations
BACKGROUND: Tetrasomy 21 is a very rare aneuploidy which could clinically resemble a Down syndrome. It was most often described in its partial form than complete. We report the prenatal, pathological and genetic characteristics of a fetus with mosaic complete tetrasomy 21. This is the second well-documented description of a complete tetrasomy 21 in the literature. METHODS: Prenatal and fetal pathological examinations, cytogenetic and molecular analyses were performed to characterize fetal features with tetrasomy 21. RESULTS: Prenatal ultrasound examination revealed an isolated complete atrioventricular septal defect with normal karyotype on amniotic fluid. After termination of pregnancy, clinical examination of the fetus evoked trisomy 21 or Down syndrome. Chromosomal microarray analysis and FISH on lung tissue showed a mosaicism with four copies of chromosome 21 (tetrasomy 21). CONCLUSION: Our observation and the review of the literature reported the possibility of very weak mosaicism and disease-causing confined tissue-specific mosaicism in fetus or alive patients with chromosome 21 aneuploidy, mainly Down syndrome. In case of clinical diagnosis suggestive of Down syndrome, attention must be paid to the risk of false-negative test due to chromosomal mosaicism (very weak percentage, different tissue distribution). To overcome this risk, it is necessary to privilege the diagnostic techniques without culture step and to increase the number of cells and tissues analyzed, if possible. This study highlights the limits of microarray as the unique diagnostic approach in case of weak mosaic and French cytogenetics guidelines recommend to check anomalies seen in microarray by another technique on the same tissue.status: publishe
La fabrique du patrimoine Ă©crit
Ă lâexception dâĆuvres de prestige, au premier rang desquelles le public pense aux manuscrits, les objets textuels ne « naissent pas patrimoniaux », ils le deviennent. Ă partir de plusieurs exemples, littĂ©rature de jeunesse, bibliothĂšque bleue, Ă©crits protestants, presse rĂ©gionale, etc., les auteurs, universitaires et professionnels des bibliothĂšques, montrent comment le travail scientifique ou technique conduit Ă lâaffirmation du caractĂšre patrimonial des Ćuvres, des collections, et mĂȘme des Ă©tablissements. Cet ouvrage invite aussi Ă rĂ©flĂ©chir sur le sens des activitĂ©s professionnelles, pour nâĂȘtre pas dupe des pratiques lexicales et sociales qui sont au cĆur du « patrimoine »
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations
International audienceBACKGROUND:Tetrasomy 21 is a very rare aneuploidy which could clinically resemble a Down syndrome. It was most often described in its partial form than complete. We report the prenatal, pathological and genetic characteristics of a fetus with mosaic complete tetrasomy 21. This is the second well-documented description of a complete tetrasomy 21 in the literature.METHODS:Prenatal and fetal pathological examinations, cytogenetic and molecular analyses were performed to characterize fetal features with tetrasomy 21.RESULTS:Prenatal ultrasound examination revealed an isolated complete atrioventricular septal defect with normal karyotype on amniotic fluid. After termination of pregnancy, clinical examination of the fetus evoked trisomy 21 or Down syndrome. Chromosomal microarray analysis and FISH on lung tissue showed a mosaicism with four copies of chromosome 21 (tetrasomy 21).CONCLUSION:Our observation and the review of the literature reported the possibility of very weak mosaicism and disease-causing confined tissue-specific mosaicism in fetus or alive patients with chromosome 21 aneuploidy, mainly Down syndrome. In case of clinical diagnosis suggestive of Down syndrome, attention must be paid to the risk of false-negative test due to chromosomal mosaicism (very weak percentage, different tissue distribution). To overcome this risk, it is necessary to privilege the diagnostic techniques without culture step and to increase the number of cells and tissues analyzed, if possible. This study highlights the limits of microarray as the unique diagnostic approach in case of weak mosaic and French cytogenetics guidelines recommend to check anomalies seen in microarray by another technique on the same tissue
LâĂ©panchement du conte dans la littĂ©rature
Pour Ă©tudier le phĂ©nomĂšne que nous nommons Ă©panchement du conte dans la littĂ©rature, nous aurons Ă questionner le dialogue permanent que la littĂ©rature et lâexpĂ©rience littĂ©raire entretiennent avec le domaine des contes, sur le mode de lâinnutrition ou de la rĂ©appropriation. Territoire passionnant au regard de la poĂ©tique des genres, le conte se prĂȘte Ă tous les jeux de lâhybridation en se mĂȘlant aux autres formes littĂ©raires quâil transpose, dilue ou incorpore. Outre les rĂ©Ă©critures proprement dites, les amalgames de contes, les migrations de personnages, il faut envisager une prĂ©sence des contes moins flagrante, au dĂ©tour des phrases, des formules, des clins dâĆil qui font Ă©cho Ă lâencyclopĂ©die du lecteur, en somme, les phĂ©nomĂšnes intertextuels dans leur diversitĂ©. Les contes peuvent ĂȘtre vus comme un vaste rĂ©servoir de formes, de formules et dâimages qui servent de passe-partout pour franchir les frontiĂšres entre les genres littĂ©raires, et de signes de reconnaissance pour instaurer une connivence avec le lecteur. LâĂ©panchement du conte dans la littĂ©rature engendre dâinfinies combinaisons narratives et textuelles, et ces opĂ©rations de mĂ©tissage concernent les thĂ©matiques, les structures, lâĂ©criture, jusquâĂ la langue qui, au-delĂ de la fiction, se trouve elle-mĂȘme nourrie par les allusions, mentions et rĂ©fĂ©rences qui lâĂ©maillent dâĂ©clats merveilleux. Certes on pourrait ne voir dans ces incidences que clichĂ©s, formules figĂ©es Ă la maniĂšre des mĂ©taphores lexicalisĂ©es, stĂ©rĂ©otypes langagiers et culturels, mais les exemples sont si nombreux et tĂ©moignent dâune telle mainmise des contes sur la littĂ©rature quâils mĂ©ritent toute notre attention. La rĂ©flexion se rĂ©partit en quatre volets dans lesquels ne sont pas distinguĂ©es littĂ©rature tout court et littĂ©rature de jeunesse. Sont abordĂ©s successivement lâemprise singuliĂšre des contes sur certains univers dâauteurs, les rĂ©Ă©critures des contes de Perrault, le franchissement des frontiĂšres gĂ©nĂ©riques, la maniĂšre dont les contes sont enseignĂ©s