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Computer-assisted Analysis Helps Detect Inner Dynein Arm Abnormalities

Unité Fonctionnelle de Biologie de la Reproduction, Département de Génétique, Cytogénétique et Embryologie, Groupe hospitalier Pitié-Salpêtrière (AP-HP), Paris; Unité INSERM 492, Créteil; Groupe Ecole Supérieure d'Ingénieurs en Electrotechnique et Electronique (ESIEE), Noisy le Grand; Unité INSERM 468; Unité Evaluation Etudes, Hôpital H. Mondor (AP-HP); Service d'Anatomie pathologique (Microscopie Électronique), Hôpital Intercommunal; and Service d'Otorhinolaryngologie et de Chirurgie cervico-faciale, Hôpitaux H. Mondor (AP-HP) et Intercommunal, Créteil, France

Correspondence and requests for reprints should be addressed to Dr. Estelle Escudier, Laboratoire de Biologie de la Reproduction, Bâtiment Benjamin Delessert, Groupe hospitalier Pitié-Salpêtrière, 47-83 boulevard de l'Hôpital, 75651 Paris Cedex 13, France. E-mail: escudier{at}im3.inserm.fr

The diagnosis of primary ciliary dyskinesia is based on demonstration of ciliary defects, mainly concerning dynein arms. Whereas the absence of outer dynein arms can be easily distinguished, the absence of inner dynein arms is difficult to confirm because of their low contrast on electron microscopy. Ciliary ultrastructure was studied in 40 patients suffering from respiratory tract infections. Conventional transmission electron microscopy showed normal cilia in 6 patients, confirmed a diagnosis of primary ciliary dyskinesia in 26 patients, and was inconclusive in 8 patients. All doubtful cases were related to inner dynein arm determination. Conventional electron microscopic analysis was able to define the ultrastructural phenotype of inner dynein arms in 40.5% of cases (6 presence of inner dynein arms, 13 absence of inner dynein arms). We developed computer-assisted analysis of electron microscopic micrographs to improve inner dynein arm visualization. Computer-assisted analysis consisted of image transformations designed to enhance the signal/noise ratio, based on the symmetry of ciliary axonemes. The sensitivity and specificity of computer-assisted analysis were 100 and 98%, respectively. The efficiency of computer-assisted analysis to visualize inner dynein arms, evaluated in the patients with undetermined phenotype after electron microscopy, was 86% (three normal cilia, seven primary ciliary dyskinesia with absence of outer dynein arms, three primary ciliary dyskinesia with absence of inner dynein arms, five partial absence of inner dynein arms). Computer-assisted analysis of ciliary micrographs improves the characterization of inherited axonemal defects.

Key Words: primary ciliary dyskinesia • ciliary ultrastructure • dynein arms • computer-assisted analysis

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