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PubMed1995

Communicating hydrocephalus in dogs with congenital ciliary dysfunction.

Magnetic resonance imaging (MRI) and radionuclide ventriculography were performed in 5 dogs with congenital ciliary dysfunction (CDD) and 3 normal dogs. Ventricular and brain dimensions and volumes, and CSF flow rates were measured or calculated from the MR images and radionuclide clearance. All CCD dogs had hydrocephalus based on previously published criteria of a percent vertical brain dimension (PVBD) greater than 14%. The PVBD was significantly larger (p = 0.001) in the dogs with CCD (mean +/- SD) 33.00 +/- 5.42% than in normal dogs (11.07 +/- 0.61%. The ventricular volume was significantly larger (p = 0.021) in CCD dogs 10,841 +/- 4,127 mm3 compared to the volume measured in normal dogs 3,069 +/- 1,167 mm3. The CSF flow rate was not significantly different p = 0.876) between CCD dogs (253.00 +/- 147.25 mm3/h) and normal dogs (267.667 +/- 47.61 mm3/h). This suggests that the ventricular dilation in CCD dogs is not due to impedance of CSF flow from the ventricular system by dysfunctional ependymal cilia.

Animals↗
PubMed1987

Primary ciliary dyskinesia and nasal mucociliary clearance.

In this study, nasal mucociliary clearance is investigated in patients with primary ciliary dyskinesia, patients with other respiratory tract infections and healthy persons. Mucociliary clearance is established with a drop of albumen labelled with 99m-Tc. From this study it appears that measurement of mucociliary clearance in the nose can serve as a reliable screening method. If a patient with respiratory tract infections shows a normal mucociliary clearance rate there is no primary ciliary dyskinesia, and a biopsy of ciliated epithelium is not necessary. If, after repeated examinations, a normal clearance rate cannot be demonstrated, a biopsy of ciliated epithelium should be taken for studying ciliary activity and ciliary ultrastructure.

Cilia↗
PubMed1988

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.

Biopsy↗
PubMed1996

The immotile cilia syndrome: characterization of the inflammatory response in nonsmoking patients with dysfunction of the cilia.

In order to demonstrate how patients with immotile cilia syndrome (ICS) are associated with lower respiratory tract inflammation, bronchoscopy and fractionated BAL were performed on eight ICS patients. Their VC was 84.5 +/- 16.7% (mean +/- SD) and FEV1 73.1 +/- 19.9% of predicted. Endobronchial signs of bronchitis were observed in all patients. The total cell concentrations in the BAL fluid were increased, compared to healthy nonsmokers (n = 10), both in the bronchial (BP) and alveolar portion (AP) (p < 0.01 for both). In the BP, this was mainly due to a high concentration of neutrophils (p < 0.001), whereas in the AP, the concentrations of lymphocytes (p < 0.01) as well as all types of granulocytes (p < 0.001-0.01) were elevated. The signs of active inflammation in the lower respiratory tract were confirmed by the concomitantly elevated (p < 0.001-0.05) concentrations of the soluble BAL components albumin, fibronectin and hyaluronan. Thus, the inflammatory response is not restricted to the ciliated conducting airways, but also occurs in the alveolar space and results-surprisingly-in only a slightly impaired lung function.

Adult↗
PubMed1995

Ciliary disorientation in patients with chronic upper respiratory tract inflammation.

Random ciliary orientation was recently described as a possible variant of primary ciliary dyskinesia (PCD). The cilia have normal ultrastructure and nearly normal ciliary beat frequency (CBF) but lack efficacy because the beat direction is disoriented. However, delayed mucociliary clearance (MCC), transitory changes in ultrastructure, and slowed CBF can all occur in the presence of inflammation. This study investigated groups of patients with upper respiratory tract inflammation caused by infection to assess whether ciliary disorientation was present and its relation to MCC. The study population consisted of 10 healthy nonatopic nonsmoking volunteers, 15 patients with idiopathic bronchiectasis and chronic mucopurulent sinusitis, 12 patients with cystic fibrosis, and two patients with the clinical features of PCD but normal CBF and ciliary ulstrastructure. Ciliary disorientation was significantly (p < 0.05) increased in the three patient groups compared with the volunteers, being greatest in the two patients with the clinical features of PCD and in bronchiectasis patients with P. aeruginosa, and was positively correlated (r = 0.9) with MCC but not with CBF. Treatment of one patient with antibiotics and topical corticosteroids for a prolonged period resulted in ciliary disorientation returning to normal. Ciliary disorientation may therefore occur secondary to inflammation caused by infection, and the study suggests that ciliary disorientation rather than ultrastructural abnormalities or slow CBF results in delayed MCC.

Biopsy↗
PubMed1995

Ciliary defects in healthy subjects, bronchiectasis, and primary ciliary dyskinesia.

To develop criteria to aid in the diagnosis of primary ciliary dyskinesia (PCD) we analyzed quantitatively the incidence and the range of ciliary ultrastructural abnormalities in healthy subjects and in patients with respiratory tract disease. The beat frequency and ultrastructure of nasal respiratory tract cilia, including ciliary orientation, were measured in 62 healthy subjects (31 nonsmokers, 20 exsmokers, and 11 smokers), ranging in age from 1 to 76 yr, and in 51 patients with respiratory tract disease. In healthy subjects, ciliary beat frequency (CBF) ranged between 9.6 and 15.3 Hz, the incidence of microtubule defects varied between 0 to 9%, the mean number of inner dynein arms per cilium ranged from 3.0 to 7.1, and the mean number of outer dynein arms per cilium ranged from 7.4 to 9.0. The deviation of cilia in healthy subjects varied between 8 and 29 degrees. By comparing the data for ciliary defects in healthy subjects with the data obtained from patients with respiratory disease, we identified two patient groups: patients with PCD (n = 31) and patients with respiratory tract disease not due to PCD. For comparison with the PCD patients, a group of 20 patients with bronchiectasis was selected and analyzed. Patients with PCD had significantly lower CBF (p < 0.001), significantly higher incidences of peripheral and central tubule defects (p < 0.01), and greater ciliary disorientation (p < 0.005). There was a strong correlation between CBF and the number of outer dynein arm numbers, but not with inner dynein arm numbers, suggesting that inner and outer dynein arms may play different functional roles in producing ciliary motility.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1996

Ciliary disorientation alone as a cause of primary ciliary dyskinesia syndrome.

Ciliary disorientation has been proposed as a variant of primary ciliary dyskinesia (PCD); cilia have normal ultrastructure and normal or near normal ciliary beat frequency (CBF) but lack efficacy because their beat direction is disorientated. We have identified 11 patients, including two siblings, with the clinical features of PCD, who satisfy these criteria. A chest radiograph, pulmonary function tests, nasal mucociliary clearance (NMCC), CBF, ciliary ultrastructure, and orientation were assessed in each subject. One patient had biopsies taken from the nose and both main bronchi. Eight patients had a computed tomography scan (CT) of the thorax; the clinical features were compatible with PCD. Cilia ultrastructure was normal and NMCC was absent in all cases. Mean CBF was normal (11.6-14.9 Hz) in five cases and slow in six (range 8.4-9.7 Hz). Ciliary beat pattern was stiff in seven cases, six of which had slow CBF. The cilia were disorientated when measured by both the central pair (range, 21.8 degrees - 26.4 degrees) and basal feet (range, 20.6 degrees - 28.9 degrees) compared with 16 normal controls (range, 11.0 degrees - 15.5 degrees and 12.3 degrees - 17.6 degrees, respectively). Two siblings had the clinical features of PCD and ciliary disorientation alone on repeated biopsies taken 10 yr apart. Orientation of cilia from the nose and bronchus was similar. Two cases had unchanged ciliary disorientation after 3 mo of treatment with antibiotics and topical corticosteroids. We concluded that ciliary disorientation alone can lead to the clinical syndrome of PCD.

Administration, Topical↗
PubMed1999

Effect of aerosolized uridine-5'-triphosphate on airway clearance with cough in patients with primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormal ciliary structure and function and impaired mucociliary clearance. Because patients with PCD use cough clearance as an airway defense mechanism, we tested the hypothesis that aerosolized uridine-5'-triphosphate (UTP) would improve clearance during cough by its actions to stimulate Cl- secretion and mucin release by goblet cells. We measured clearance during cough in 12 patients with PCD (ages 14 to 71 yr, FEV1 43% to 89% predicted) in a double blind, randomized, crossover study after aerosolization of a single dose of UTP (5 mg/ml, 3.5 ml) or vehicle (0.12% saline, 3.5 ml). Clearance during cough (whole lung) was quantified during and after a series of controlled coughs by measuring the clearance of [99mTc]Fe2O3 particles via gamma camera scanning over 120 min. Safety parameters were recorded during and after drug delivery. Aerosolized UTP improved whole-lung clearance during cough as compared with vehicle (from 0 to 60 min: 0.40 +/- 0.07%/min [UTP] versus 0.26 +/- 0. 04%/min [vehicle] [mean +/- SEM], p = 0.01), and from 0 to 120 min: 0.38 +/- 0.05%/min [UTP] versus 0.25 +/- 0.04%/ min [vehicle], p = 0. 02). Aerosolized UTP is safe, with no serious adverse effects. Whole-lung clearance during cough in patients with defective ciliary function is enhanced after inhalation of UTP.

Administration, Inhalation↗
PubMed1984

Nasal ciliary ultrastructure and function in patients with primary ciliary dyskinesia compared with that in normal subjects and in subjects with various respiratory diseases.

In an attempt to establish the relevance of ciliary ultrastructure to the pathophysiologic aspects of respiratory tract disease, we compared quantitatively the ultrastructure and function of cilia from healthy subjects (atopic and nonatopic nonsmokers, asymptomatic smokers) and patients with a variety of respiratory diseases (cystic fibrosis, chronic rhinitis, bronchiectasis associated with hypogammaglobulinemia, chronic bronchitis) with cilia from patients with primary ciliary dyskinesia (PCD). In healthy subjects and patients with non-PCD respiratory disease, approximately 5% of the cilia evaluated had ultrastructural abnormalities. Ciliary beat frequency was significantly higher in the chronic rhinitis group (15.3 +/- 1.2 Hz) than in the other non-PCD groups, which were within the normal range (12.5 +/- 1.7 Hz), and in all non-PCD cases ciliary wave form was normal. In each of these groups, normal mucociliary transport had been previously demonstrated. By contrast, in patients with PCD, the proportion of cilia with ultrastructural abnormalities was significantly greater than in the normal subjects and those with non-PCD respiratory disease (p less than 0.0001). In addition, beat frequency was significantly reduced, ciliary wave form was grossly abnormal, and pulmonary and nasal mucociliary transport were virtually absent. These findings demonstrate the relevance of ciliary ultrastructural abnormalities to altered ciliary function and lend support to the primary role of the demonstrated abnormalities in the respiratory tract disease of PCD.

Adolescent↗
PubMed1986

Kartagener's syndrome with motile cilia and immotile spermatozoa: axonemal ultrastructure and function.

A 35-yr-old infertile man with chronic sinobronchial disease and dextrocardia (Kartagener's syndrome) was found to have immotile sperm and motile nasal cilia in vitro. Ciliary beat frequency in vitro was normal, but in vivo nasal mucociliary clearance was markedly prolonged. Quantitative electron microscopy demonstrated a severe reduction in spermatozoal outer and inner dynein arms compared with normal (p less than 0.001) but normal numbers of outer doublets, central microtubules, and radial spokes were seen. In 2 samples of nasal cilia collected 14 months apart, the number of inner dynein arms was significantly reduced from normal (p less than 0.001), but normal numbers of radial spokes and microtubule structures were seen. Ciliary outer dynein arms were slightly reduced in 1 specimen (p less than 0.001) but were normal in the other. It is suggested that the reduction in the number of ciliary inner dynein arms does not affect ciliary motility in vitro but that, under the increased load of mucus in vivo, this defect prevents the cilia from functioning normally. The difference in axonemal ultrastructure between cilia and spermatozoa from the same patient further suggests a separate genetic control of their structural components.

Adult↗
PubMed1987

Microtubular protofilaments and subunits of the outer dynein arm in cilia from dogs with primary ciliary dyskinesia.

Using a procedure of membrane solubilization followed by tannic acid fixation-staining, we found abnormally constructed central and B microtubules in cilia from dogs with primary ciliary dyskinesia. We also found that a ciliary abnormality commonly associated with primary ciliary dyskinesia, "shortened outer dynein arms," actually represents the absence of a specific set of the 3 peripheral subunits that make up the outer dynein arms. We believe that this is the first time that these have been reported. Because the proximal subunits of the outer dynein arm are present and attached to the A microtubule, we argue that in these patients there is no structural abnormality of the A microtubule or the A-tubule attachment sites for outer and inner arms and radial spokes. Also, because a majority of cilia in these patients were motile, we believe that the data from this study support the concept that the outer dynein arms are not required for some motion but probably required for normal motility; however, the central microtubules, central microtubular complex, and probably the B tubules are essential for motility.

Adenosine Triphosphatases↗
PubMed2002

Computer-assisted analysis helps detect inner dynein arm abnormalities.

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.

Ciliary Motility Disorders↗
PubMed2000

Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene.

Reduced mucociliary clearance in primary ciliary dyskinesia (PCD) causes recurrent infections of the upper and lower respiratory tract. The disease is usually inherited as an autosomal recessive trait. To identify a gene locus for PCD, we studied a large consanguineous family of Arabic origin. Direct examination of the respiratory cilia revealed ciliary akinesia. Electron microscopic examination of cilia showed absence of the outer dynein arms. Two of four affected individuals exhibited a situs inversus, typical for Kartagener syndrome, due to randomization of the left/right body axis. A total genome scan with 340 highly polymorphic microsatellites was performed. We localized a new gene locus for PCD to a region of homozygosity by descent on chromosome 5p15-p14 with a parametric multipoint logarithm of odds ratio (LOD) score of Zmax = 3.51 flanked by markers D5S2095 and D5S502 within an interval of 20 centimorgans sex-averaged genetic distance. Applying a polymerase chain reaction-based approach, we identified a 1.5-kb partial complementary DNA of DNAH5 encoding a Chlamydomonas-related axonemal heavy dynein chain within the critical disease interval of this new PCD locus. On the basis of the Chlamydomonas model for PCD, this gene represents an excellent candidate for PCD.

Amino Acid Sequence↗
PubMedDate not supplied

Primary ciliary dyskinesia: quantitative investigation of the ciliary ultrastructure with statistical analysis.

In this study the ultrastructure of cilia in patients with primary ciliary dyskinesia was compared to that in patients with other respiratory infections and with that in healthy individuals. After statistical analysis of the findings, the prevalence and the specificity of morphological changes in primary ciliary dyskinesia were established. Guidelines were developed by which the existence of primary ciliary dyskinesia can be ascertained in biopsies of nasal mucosa via transmission electron microscopy.

Biopsy↗
PubMedDate not supplied

Acquired ultrastructural alterations of respiratory cilia and clinical disease. A review.

Efficient cleansing of the upper and lower respiratory surfaces by the mucociliary apparatus is essential to health. Failure of the cleansing allows contaminants prolonged residence on the mucosal respiratory surfaces and thus penetration into the mucosa and possibly inauguration of disease. For some years, genetic ultrastructural ciliary alterations have been recognized, with symptoms dating from early life. It is only in recent years, however, that evidence has shown that ultrastructural ciliary alterations can be acquired later in life and that these alterations in turn lead to a deterioration of efficient ciliary cleansing. A discussion of the ultrastructure of the normal mammalian cilium will be given, as well as a listing of the genetic ciliary disease and their characteristic morphologic alterations. A more complete review will be made in regard to acquired ciliary defects, their cause, the ultrastructural changes, and the relation to clinical disease.

Cilia↗
PubMedDate not supplied

Ultrastructure of mucous blanket in otitis media with effusion.

We used transmission electron microscopy to study the mucous blanket of the promontory from children with otitis media with effusion. The vast majority of the epithelial cells were secretory, and the rest were ciliated. The mucous blanket consisted of the electron-lucent periciliary fluid and the mucous layer. In the mucous layer, two layers were identified: an inner layer with migrating cells, and an outer layer with specks. Moreover, there was a lucent zone over the nonciliated surface that was as high as the microvilli. The thickness of the periciliary layer was predominantly as great as that of the ciliary tips, which just make contact with the mucous layer; however, the mucous layer occasionally penetrated into the periciliary space. These findings indicated that there is a mucociliary dysfunction in the middle ear caused by a decrease in the number of ciliated cells, and an abnormal interaction between cilia and mucus that would interfere with ciliary movement. Thus, such a system would fail to transport the mucous blanket.

Biopsy↗
PubMed1996

Morphologic and motility changes of nasal cilia in primary culture caused by Haemophilus influenzae.

We focused on the pathogenicity of otitis media with effusion (OME) with respect to the susceptibility of the upper respiratory tract mucosa to Haemophilus influenzae. Human nasal polyps in outgrowth culture were used to study H influenzae disturbance of the ciliary beat frequency (CBF) and the morphology of cilia. The CBF of control primary culture was 11.7 +/- 2.7 Hz. The CBF slowed down significantly, to 8.5 +/- 5.7 Hz, after incubation with the filtrate of 10(8) CFU/mL of H influenzae, and to 4.1 +/- 4.1 Hz with a suspension of 10(8) CFU/mL of H influenzae (p<.05). In the morphologic study, we classified the shapes of the cilia into five types: normal cilia, immotile cilia, swollen cilia, clumped cilia, and exfoliated ciliated cells. The abnormal shapes of cilia increased after incubation with the suspension or the filtrate of H influenzae. By scanning electron microscopy, we saw that aggregated bacteria tended to associate with cilia. Thus, the findings suggest that H influenzae disturbs the ciliary clearance of nasal cells and makes them more susceptible to infections.

Adult↗