0000000000480769

AUTHOR

Gérard Couillault

showing 2 related works from this author

Profiles and seasonal distribution of airborne fungi in indoor and outdoor environments at a French hospital

2009

International audience; A one-year prospective survey of fungal air contamination was conducted in outdoor air and inside two haematological units of a French hospital. Air was sampled with a portable Air System Impactor. During this period of survey, the mean viable fungal load was 122.1 cfu/m(3) in outdoor air samples, and 4.1 and 3.9 cfu/m(3) in samples from adult and pediatric haematology units, respectively. In outdoor samples, Cladosporium was the dominant genus (55%) while in the clinical units, Penicillium sp. (23 to 25%), Aspergillus sp. (15 to 23%) and Bjerkandera adusta (11 to 13%) were the most frequently recovered airborne fungi. The outdoor fungal load was far higher in autumn…

Veterinary medicineEnvironmental EngineeringSeasonal distributionAir Microbiology010501 environmental sciences01 natural sciences03 medical and health sciencesBjerkandera adusta[ SDV.MP ] Life Sciences [q-bio]/Microbiology and ParasitologymedicineEnvironmental ChemistryHospital Design and ConstructionWaste Management and DisposalAir quality indexAirborne fungi Outdoor and indoor air Hospital Haematology units Seasonal variations Aspergillus0105 earth and related environmental sciences0303 health sciencesAspergillusbiology030306 microbiologyEcologyFungiFungi imperfectiSeasonalitybiology.organism_classificationmedicine.diseasePollution[SDV.MP]Life Sciences [q-bio]/Microbiology and ParasitologyAir Pollution IndoorPenicilliumParticulate MatterFranceSeasonsEnvironmental MonitoringCladosporium
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Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene

2013

International audience; Fanconi anaemia (FA) is characterized by progressive bone marrow failure, congenital anomalies, and predisposition to malignancy. In a minority of cases, FA results from biallelic FANCD1/BRCA2 mutations that are associated with early-onset leukaemia and solid tumours. Here, we describe the clinical and molecular features of a remarkable family presenting with multiple primary colorectal cancers (CRCs) without detectable mutations in genes involved in the Mendelian predisposition to CRCs. We unexpectedly identified, despite the absence of clinical cardinal features of FA, a biallelic mutation of the FANCD1/BRCA2 corresponding to a frameshift alteration (c.1845_1846del…

AdultBiallelic MutationRNA Splicing[SDV]Life Sciences [q-bio]DNA Mutational AnalysisBiologymedicine.disease_causeArticleFrameshift mutationGeneticsmedicineHumansMissense mutationAge of OnsetGeneAllelesGenetics (clinical)BRCA2 ProteinGeneticsMutationPoint mutationComputational BiologyChromosome BreakageBRCA2 ProteinPedigree3. Good healthAmino Acid SubstitutionMutationFemaleRNA Splice SitesChromosome breakageColorectal NeoplasmsEuropean Journal of Human Genetics
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