1/23. 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) |
2/23. Primary ciliary dyskinesia syndrome and primary generalised epilepsy.A child with primary ciliary dyskinesia syndrome (PCDS) developed primary generalised epilepsy (PGE). The PGE had characteristics of both childhood absence epilepsy (CAE) and juvenile myoclonic epilepsy (JME). The association of PCDS and PGE has not previously been recorded.- - - - - - - - - - ranking = 0.83333333333333keywords = dyskinesia (Clic here for more details about this article) |
3/23. Primary ciliary dyskinesia associated with a novel microtubule defect in a child with Down's syndrome.We present a child with Down's syndrome, bilateral lower lobe bronchiectasis, sinusitis, and severe ear disease who was found to have a novel ciliary defect, with a frequent, partial absence of the walls of the A subunits of some peripheral doublets. The defect caused the A subunits to be "U-shaped" rather than "O-shaped." A nuclear nasal mucociliary transport study confirmed that this defect was associated with abnormal mucociliary transport. The ciliary defect was not observed in a biopsy performed in a second patient who had Down's syndrome.- - - - - - - - - - ranking = 0.66666666666667keywords = dyskinesia (Clic here for more details about this article) |
4/23. Different frequency of cilia with transposition in human nasal and bronchial mucosa. A case of acquired ciliary dyskinesia.Nasal and bronchial cilia and spermatozoa of a patient with a high clinical suspicion of a ciliary dyskinesia syndrome were ultrastructurally studied and quantified. Defective cilia showed two types of axonemal patterns: 9d 0s and 8d 1d. Of these, 9d 0s cilia prevailed in the proximal region, whereas 8d 1d prevailed in the distal region. Translocation of a peripheral doublet to the central position occurred at the middle region of cilia lacking the central pair, probably to compensate for its absence. Quantitative analysis showed that the percentages of anomalous cilia were 5.32 /-0.93 in nasal samples and 43.17 /-2.34 in bronchial samples. spermatozoa without the central pair or with a translocated microtubular doublet were rarely observed, but a variety of nonspecific defects were seen. Even though transposition is generally considered to be an inherited ciliary defect and one of the causes of primary ciliary dyskinesia, in this case quantitative ultrastructural analysis and clinical data indicate that this is an acquired ciliary defect.- - - - - - - - - - ranking = 1keywords = dyskinesia (Clic here for more details about this article) |
5/23. Chronic cough and infertility: a report of two cases.OBJECTIVE: To report two cases of infertility caused by primary ciliary dyskinesia in patients who presented with an associated complaint of a chronic cough. DESIGN: Case report. SETTING: University teaching hospital.Patient(s): Two patients presenting with unexplained infertility and an associated history of long-term chronic cough. INTERVENTION(s): patients underwent a nasal mucosal biopsy by an otolaryngologist. Electron microscopy (EM) examination of biopsy specimens was performed. MAIN OUTCOME MEASURE(s): diagnosis and appropriate treatment for functional tubal factor infertility. RESULT(s): Both patients were diagnosed with primary ciliary dyskinesia based on EM of the nasal biopsy specimens. Given this diagnosis, they immediately underwent IVF-ET. Both patients became pregnant with their first IVF-ET cycle. CONCLUSION(s): Other investigators have shown that almost 20% of patients with a chronic cough will have EM evidence of ciliary dyskinesia. patients presenting with idiopathic infertility and an associated unexplained chronic cough should be referred for nasal biopsy with EM evaluation to rule out primary ciliary dyskinesia. infertility in these cases, which is due to a functional tubal factor, is best treated with IVF-ET rather than superovulation and intrauterine insemination treatments.- - - - - - - - - - ranking = 0.66666666666667keywords = dyskinesia (Clic here for more details about this article) |
6/23. 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) |
7/23. Steatosis associated with immotile cilia syndrome: an unrecognized relationship?The present study deals with a case of hepatic parenchymal steatosis in a child with primary ciliary dyskinesia (immotile cilia syndrome) well documented by functional and ultrastructural evaluation of the ciliary epithelia. Hepatic steatosis was associated with ultrastructural evidence of retention of material either in the cisternae of the endoplasmic reticulum or in proximity of the golgi apparatus of hepatocytes. It is suggested that the absence of dynein in the axoneme is probably part of a diffuse genetic defect which may extend to cytoplasmic, non axonemal, dynein and lead to a disturbance of various microtubule-dependent cell activities.- - - - - - - - - - ranking = 0.16666666666667keywords = dyskinesia (Clic here for more details about this article) |
8/23. Nasal nitric oxide is low early in life: case study of two infants with primary ciliary dyskinesia.Nasal nitric oxide levels are low in patients with primary ciliary dyskinesia, but it is not known whether this defect is already present in the first months of life. The current authors measured nasal nitric oxide in two infants with situs inversus and primary ciliary dyskinesia, diagnosed by electron microscopy at 4 and 6 months of age, and in five healthy control infants. Nasal nitric oxide values in the primary ciliary dyskinesia infants (85 and 115 parts per billion (ppb)) were markedly lower than in the healthy controls (mean: 295 ppb, range: 225-379 ppb). This is the first report to show that nasal nitric oxide values are already low in early life in primary ciliary dyskinesia children, supporting the hypothesis that a reduced production of nasal nitric oxide is an intrinsic feature of this disease. The current authors suggest that the nasal nitric oxide test may be a useful, noninvasive method for screening young children for primary ciliary dyskinesia in clinical practice.- - - - - - - - - - ranking = 1.5keywords = dyskinesia (Clic here for more details about this article) |
9/23. 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) |
10/23. Freeze-fracture analysis of the respiratory cilia from the bronchial mucosa of a patient with primary ciliary dyskinesia.Respiratory cilia of the bronchial mucosa from a 5-year-old boy with clinical evidence of classical Kartagener's syndrome (situs inversus, bronchiectasis and sinusitis) were first examined by means of transmission electron microscopy for identification of the axonemal defects described as typical for primary ciliary dyskinesia (PCD). Additional oscillography was performed on the cilia in vitro, which showed absence of a coordinated ciliary beat frequency. After clear classification of the case as PCD, a freeze-fracture examination of the respiratory cilia was performed, which revealed a higher density of intramembrane particles on the outer fracture face (E-face) than on the inner fracture face (P-face). The results were discussed with regard to probable pathogenetic aspects on PCD.- - - - - - - - - - ranking = 0.83333333333333keywords = dyskinesia (Clic here for more details about this article) |
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