1/5. A possible mechanism of primary ciliary dyskinesia: a case of a segmental defect in ciliary microtubules.We report here a 13-year-old woman with cough, sputum and fever. The patient had both chronic sinusitis and bronchitis. Chest X-ray and computed tomographic scan of the chest revealed mucous bronchial filling and bronchiectasia in bronchi of bilateral lower lobes, right middle lobe and left upper lobe. Aerosol inhalation scintigraphy with 99mTechnetium demonstrated delays of the discharged tracer. On the basis of these findings, primary ciliary dyskinesia was suggested. This was confirmed by the findings from nasal biopsy with transmission electron microscopy where all of the microtubules were segmentally defected near the basal body in the cilia. On the basis of these findings, we diagnosed the patient with primary ciliary dyskinesia which may be due, at least in part, to segmental defect of ciliary microtubules.- - - - - - - - - - ranking = 1keywords = dyskinesia (Clic here for more details about this article) |
2/5. Living-donor lobar lung transplantation for primary ciliary dyskinesia.A ventilator-dependent patient with primary ciliary dyskinesia underwent successful living-donor lobar lung transplantation. The case was a 24-year-old woman who had developed recurrent lower respiratory infection and became ventilator-dependent due to severe bronchiectasis. Transmission electron microscopy of the resected bronchus demonstrated inner dynein arm deficiency.- - - - - - - - - - ranking = 0.83333333333333keywords = dyskinesia (Clic here for more details about this article) |
3/5. Central microtubular agenesis causing primary ciliary dyskinesia.Primary ciliary dyskinesia is an autosomal recessive disorder characterized by chronic upper and lower respiratory tract symptoms. We report the diagnosis of primary ciliary dyskinesia associated with a circular ciliary beat pattern in three siblings. This beat pattern is consistent with a ciliary transposition defect, where a peripheral microtubule doublet is transposed to the center of the ciliary axoneme to replace the absent central microtubule pair. However, in these siblings, ultrastructural analysis of the cilia revealed an absence of the central microtubule pair only. This variant of transposition with a circular ciliary beat pattern has not been described previously. In addition, this defect, together with the transposition defect, may help explain the mechanism of the circular beat pattern and also the absence of situs inversus in these patients.- - - - - - - - - - ranking = 1keywords = dyskinesia (Clic here for more details about this article) |
4/5. Abnormal length of cilia--a cause of primary ciliary dyskinesia--a case report.A 7-year-old Turkish boy had suffered from chronic coughing from early childhood. Severe bronchiectasis in the right lung was confirmed by bronchography. Ciliary beat frequency determined in a bronchial mucosal biopsy was markedly decreased (5.7 Hz). Electron microscopy revealed cilia with a length of 15 microns. No structural abnormality was found. A possible link between the abnormally long, slow beating cilia and the clinical symptoms is discussed.- - - - - - - - - - ranking = 0.66666666666667keywords = dyskinesia (Clic here for more details about this article) |
5/5. A rare case of Young's syndrome in japan.A 56-year-old man was admitted for the evaluation of recurrent pulmonary infections. Since the patient presented with the combination of diffuse cystic bronchiectasis, chronic sinusitis and obstructive azoospermia, the diagnosis of Young's syndrome was made. Because the sweat chloride value, pancreatic function and ciliary ultrastructure were normal, this case could be clearly differentiated from cystic fibrosis and primary ciliary dyskinesia. There have been only a few reported cases of Young's syndrome in japan.- - - - - - - - - - ranking = 0.16666666666667keywords = dyskinesia (Clic here for more details about this article) |