Isabelle Bouchardy

University of Geneva, Genève, GE, Switzerland

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Publications (10)48.69 Total impact

  • Neurology 04/2011; 76(14):1272-3. · 8.30 Impact Factor
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    ABSTRACT: Since the beginning of population screening for CF carriers, it has become apparent that complex CFTR alleles are not uncommon. Deciphering their impact in disease pathogenesis remains a challenge for both clinicians and researchers. We report the observation of a new complex allele p.[R74W+R1070W+D1270N] found in trans with a type 1 mutation and associated with clinical diagnosis of cystic fibrosis in a one year-old Moroccan patient. This case underlines the difficulties in counseling patients with uncommon mutations and the necessity of functional studies to evaluate the structure-function relationships, since the association of several variations in cis can dramatically alter CFTR function.
    Journal of cystic fibrosis: official journal of the European Cystic Fibrosis Society 09/2010; 9(6):447-9. · 3.19 Impact Factor
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    Isabelle BOUCHARDY
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    ABSTRACT: Using steps transposed from corporate quality strategies, French universities have entered a new stage of their modernization, illustrative of the current of New Public Management. These strategies, destined to combine missions of excellence and the transformation of thousands of young people into graduates, will be studied here with regard to different horizons which they suggest for French higher education. In change for the last 40 years, called into question over its costs, its production, and its management, university is at the crossroads of autonomy, clientelism and professionalisation. Our system of higher education must now combine savings, realignment, local governorship, partnerships and a geographical distribution of training opportunities, within the new European arena of degrees. However, it suffers from several handicaps (at once fiscal, legislative, administrative and social) aggravated by a specifically French fracture: how then can the quality strategies put in place, bring about the efficiency coveted by higher education ? This higher education system demonstrates several innovations and have begun to make surveys of the employability levels of its graduates. Thus, benchmarking is available on the condition that the criteria and indicators of the performance comparison are reached by consensus, and that's not the case: is it political arbitration (that rules over university as a public service) or market arbitration which determines the value of degrees? calibration and measurement could not be the same: who decides? which path opens to university to come out this dilemma?
    Management & Marketing. 01/2010; 5(1).
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    ABSTRACT: Rett syndrome is a severe neurodevelopmental disorder affecting principally females and characterized by a normal postnatal development followed by stagnation and regression of acquired skills. We report a 4-year-old boy with a Rett syndrome phenotype and his unaffected mother both carrying a 44 bp truncating deletion mutation (c.1158del44 or p.388X) in the MECP2 gene. The presence of a skewed X inactivation in the mother provides a possible explanation for the absence of penetrance. The finding of a MECP2 mutation in an unaffected female complicates genetic counseling and further confirms that it is essential to look for mutations in the mothers of all patients with MECP2 mutations.
    Brain and Development 02/2007; 29(1):47-50. · 1.67 Impact Factor
  • Thrombosis and Haemostasis 06/2006; 95(5):893-5. · 5.76 Impact Factor
  • American Journal of Medical Genetics Part A 05/2006; 140(8):903-5. · 2.30 Impact Factor
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    ABSTRACT: The authors report a family affected by multiple daily episodes of transient visual loss, elicited repetitive daily blindness (ERDB); the onset was early in life, and the disease followed a benign course. ERDB is associated with childhood epilepsy and familial hemiplegic migraine, apparently segregating as a monogenic, autosomal dominant condition with variable expression. Genetic linkage to CACNA1A was excluded.
    Neurology 08/2004; 63(2):348-50. · 8.30 Impact Factor
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    ABSTRACT: Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by the complete absence of detectable fibrinogen. We previously identified the first causative mutations for this disease, homozygous deletions of approximately 11 kb of the fibrinogen alpha chain gene (FGA). Subsequent analyses revealed that most afibrinogenemia alleles are truncating mutations of FGA, although mutations in all 3 fibrinogen genes, FGG, FGA and FGB have been identified. In this study, we performed the first prenatal diagnosis for afibrinogenemia. The causative mutation in a Palestinian family was a novel nonsense mutation in the FGB gene, Trp467Stop (W467X). Expression of the Trp467Stop mutant FGB cDNA in combination with wild-type FGA and FGG cDNAs showed that fibrinogen molecules containing the mutant beta chain are not secreted into the media. The fetus was found to be heterozygous for the Trp467Stop mutation by direct sequencing and by linkage analysis, a result that was confirmed in the newborn by intermediate fibrinogen levels.
    Blood 06/2003; 101(9):3492-4. · 9.78 Impact Factor
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    ABSTRACT: The association of breast cancer with passive and active smoking was investigated in slow and fast acetylators of aromatic amines in a Geneva, Switzerland, study in 1996-1997. A slow acetylator was homozygous for one, or heterozygous for two, of three N-acetyltransferase 2 (NAT2) polymorphisms determined on buccal cell DNA from 177 breast cancer cases and 170 age-matched, population controls. The reference group consisted of women never regularly exposed to active or passive smoke. Among premenopausal women, the odds ratios were homogeneous in slow and fast acetylators: 3.2 (95% confidence interval (CI): 1.2, 8.7) for passive smoking and 2.9 (95% CI: 1.1, 7.5) for active smoking. Among postmenopausal women, the odds ratios for fast acetylators were 11.6 (95% CI: 2.2, 62.2) for passive and 8.2 (95% CI: 1.4, 46.0) for active smoking; the corresponding effects were also apparent but less strong in slow acetylators. After the nonexposed and the passive smokers were grouped in a single reference category, active smoking was associated with postmenopausal breast cancer in slow acetylators (odds ratio (OR) = 2.5, 95% CI: 1.0, 6.2) but not in fast acetylators (OR = 1.3, 95% CI: 0.5, 3.3). Thus, the associations of both passive and active smoking with breast cancer appear stronger in fast than in slow NAT2 genotypes. Separating passive smokers from the nonexposed impacts on the inference about a possible NAT2-smoking interaction.
    American Journal of Epidemiology 09/2000; 152(3):226-32. · 4.78 Impact Factor
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    ABSTRACT: Recent studies have shown that airway inflammation dominated by neutrophils, ie, polymorphonuclear cells (PMN) was observed in infants and children with cystic fibrosis (CF) even in the absence of detectable infection. To assess whether there is a CF-related anomaly of PMN migration across airway epithelial cells, we developed an in vitro model of chemotactic migration across tight and polarized CF15 cells, a CF human nasal epithelial cell line, seeded on porous filters. To compare PMN migration across a pair of CF and control monolayers in the physiological direction, inverted CF15 cells were infected with increasing concentrations of recombinant adenoviruses containing either the normal cystic fibrosis transmembrane conductance regulator (CFTR) cDNA, the ΔF508 CFTR cDNA, or the β-galactosidase gene. The number of PMN migrating in response to N-formyl-Met-Leu-Phe across inverted CF15 monolayers expressing β-galactosidase was similar to that seen across CF15 monolayers rescued with CFTR, whatever the proportion of cells expressing the transgene. Moreover, PMN migration across monolayers expressing various amounts of mutated CFTR was not different from that observed across matched counterparts expressing normal CFTR. Finally, PMN migration in response to adherent or Pseudomonas aeruginosa was equivalent across CF and corrected monolayers. The possibility that mutated CFTR may exert indirect effects on PMN recruitment, via an abnormal production of the chemotactic cytokine interleukin-8, was also explored. Apical and basolateral production of interleukin-8 by polarized CF cells expressing mutated CFTR was not different from that observed with rescued cells, either in baseline or stimulated conditions. CF15 cells displayed a CF phenotype that could be corrected by CFTR-containing adenoviruses, because two known CF defects, Cl− secretion and increased P. aeruginosa adherence, were normalized after infection with those viruses. Thus, we conclude that the presence of a mutated CFTR does not per se lead to an exaggerated inflammatory response of CF surface epithelial cells in the absence or presence of a bacterial infection.
    American Journal Of Pathology 05/2000; · 4.60 Impact Factor