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Galey Louis,Audignon Sabyne,Brochard Patrick,Debia Maximilien,Lacourt Aude,Lambert Pierre,Le Bihan Olivier,Martinon Laurent,Bau Sébastien,Witschger Olivier,Garrigou Alain 한국산업안전보건공단 산업안전보건연구원 2023 Safety and health at work Vol.14 No.2
In many industrial sectors, workers are exposed to manufactured or unintentionally emitted airborne nanoparticles (NPs). To develop prevention and enhance knowledge surrounding exposure, it has become crucial to achieve a consensus on how to assess exposure to airborne NPs by inhalation in the workplace. Here, we review the literature presenting recommendations on assessing occupational exposure to NPs. The 23 distinct strategies retained were analyzed in terms of the following points: target NPs, objectives, steps, “measurement strategy” (instruments, physicochemical analysis, and data processing), “contextual information” presented, and “work activity” analysis. The robustness (consistency of information) and practical aspects (detailed methodology) of each strategy were estimated. The objectives and methodological steps varied, as did the measurement techniques. Strategies were essentially based on NPs measurement, but improvements could be made to better account for “contextual information” and “work activity”. Based on this review, recommendations for an operational strategy were formulated, integrating the work activity with the measurement to provide a more complete assessment of situations leading to airborne NP exposure. These recommendations can be used with the objective of producing homogeneous exposure data for epidemiological purposes and to help improve prevention strategies.
Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability
Failler, M.,Gee, H.,Krug, P.,Joo, K.,Halbritter, J.,Belkacem, L.,Filhol, E.,Porath, Jonathan D.,Braun, Daniela A.,Schueler, M.,Frigo, A.,Alibeu, O.,Masson, C.,Brochard, K.,Hurault de Ligny, B.,Novo, R University of Chicago Press [etc.] 2014 American journal of human genetics Vol.94 No.6
Ciliopathies are a group of hereditary disorders associated with defects in cilia structure and function. The distal appendages (DAPs) of centrioles are involved in the docking and anchoring of the mother centriole to the cellular membrane during ciliogenesis. The molecular composition of DAPs was recently elucidated and mutations in two genes encoding DAPs components (CEP164/NPHP15, SCLT1) have been associated with human ciliopathies, namely nephronophthisis and orofaciodigital syndrome. To identify additional DAP components defective in ciliopathies, we independently performed targeted exon sequencing of 1,221 genes associated with cilia and 5 known DAP protein-encoding genes in 1,255 individuals with a nephronophthisis-related ciliopathy. We thereby detected biallelic mutations in a key component of DAP-encoding gene, CEP83, in seven families. All affected individuals had early-onset nephronophthisis and four out of eight displayed learning disability and/or hydrocephalus. Fibroblasts and tubular renal cells from affected individuals showed an altered DAP composition and ciliary defects. In summary, we have identified mutations in CEP83, another DAP-component-encoding gene, as a cause of infantile nephronophthisis associated with central nervous system abnormalities in half of the individuals.