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At least 19 recordsLinked to original sources
PubMed2001

Disorders of ciliary motility.

Clearance of mucus and other debris from the airways is achieved by 3 main mechanisms: mucociliary activity, coughing, and alveolar clearance. Disorders of ciliary structure or function results in impaired clearance, and result in chronic sinopulmonary disease manifested as chronic sinusitis, otitis media, nasal polyposis, and ultimately bronchiectasis. In addition, situs inversus, dextrocardia, and infertility can be associated with dysfunctional ciliary activity. The term primary ciliary dyskinesia has been proposed for the spectrum of these diseases. The term Kartagener syndrome applies to this syndrome when accompanied by infertility and dextrocardia or situs inversus. The more common types of ciliary dysmotility syndromes are characterized by missing dynein arms, central microtubule pairs, inner sheath, radial spokes, or nexin links. In addition to structural defects within the cilia, disordered ciliary beating and disordered ciliary arrays on epithelial cell surfaces have been described in this syndrome. Treatment includes rigorous lung physiotherapy, prophylactic and organism-specific antibiotics, and immunization against common pulmonary pathogens. Late stages of the disease may require surgical intervention for bronchiectasis or lung transplant for end-stage lung disease.

Adult↗
PubMed1994

Respiratory distress in a newborn with primary ciliary dyskinesia, situs inversus and Turner syndrome.

A report is given of a newborn girl with situs inversus and Turner syndrome that presented respiratory distress. The patient had a mosaic karyotype 45,X/46,X + mar (80%/20%). Ciliary motion analysis demonstrated a total absence of ciliary motion whereas, ultrastructural studies revealed typical features of primary ciliary dyskinesia (PCD) (absence or short outer/inner dynein arms in 90% of the cilia). We regard this rare combination (PCD, situs inversus and Turner syndrome) as a coincidental occurrence.

Chromosome Aberrations↗
PubMed1997

Pre- and postoperative mucociliary clearance in functional endoscopic sinus surgery.

The advent of functional endoscopic sinus surgery (FESS) has revolutionized the treatment of chronic sinusitis over the last decade. Although it has been well-established that FESS is more efficacious than conventional surgery, the lack of a quantifiable means of assessing results remains one of the major shortcomings of the technique, and hence a source of criticism. Since the pathophysiology of chronic sinusitis is intimately related to the mucociliary mechanism of the nose and sinuses, it seems logical to use this parameter as a yardstick of success. We undertook a prospective, controlled study of 40 patients and measured their "saccharin times" before and after surgery. The results show a marked reduction in clearance times postoperatively, corresponding well with improvement in symptom profile. We therefore propose this technique as a simple, safe and reliable method of assessing the results of surgery. Furthermore, the method could act as a preoperative indicator of ciliary motility disorders, as the prognosis in these patients is distinctly poor.

Adult↗
PubMed1995

Primary ciliary dyskinesia: ultrastructural defects and clinical features.

Primary ciliary dyskinesia is a genetically determined disorder characterized by immotility or poor motility of the cilia in the airways and elsewhere. Certain specific defects in the ciliary axoneme can be found, which are pathognomonic of the syndrome. The defects include missing dynein arms, abnormally short dynein arms, spokes with no central sheath, missing central microtubules, and displacement of one of the nine peripheral doublets. We have reviewed 19 cases of primary ciliary dyskinesia diagnosed by transmission and scanning electron microscopy. The age distribution ranged from five to 15 years, and there were six males and 13 females. All 19 cases had abnormal cilia which consisted of Ia (three cases), Ib (three cases), isolated Id (three cases), isolated II (one case), isolated III (two cases), and Id + other types (seven cases), according to Sturgess' classification. The most pronounced clinical manifestations are chronic paranasal sinusitis (52%) and chronic bronchiectasis (52%), followed by bronchopneumonia (26%), chronic bronchitis (21%), and nasal polyps (15%).

Adolescent↗
PubMed2000

Neonatal respiratory distress syndrome--a sign of primary ciliary dyskinesia?

UNLABELLED: Primary ciliary dyskinesia (PCD) is a clinically heterogeneous disease. In most cases, its clinical manifestation in children is rather unspecific: chronic infectious rhinnosinusitis, recurrent acute infections of the upper and lower airways and chronic otitis media with effusion. Between 1990 and 1998 ten patients were diagnosed as PCD. Nine presented a neonatal respiratory distress syndrome (NRDS) of unknown cause. Six of these patients were newborns treated in the intensive care unit, one of them needed mechanical ventilation. The few cases already described in the literature and the experience with our patients support the possible association of NRDS with PCD. CONCLUSION: Neonatal respiratory distress syndrome of unknown cause should be added to the list of clinical presentation of primary ciliary dyskinesia, and if further signs and symptoms are indicative of primary ciliary dyskinesia, investigations to explore this disorder are warranted.

Ciliary Motility Disorders↗
PubMed1990

[Assessment of different clearance mechanisms of the lung using factor analysis].

Measurement of epithelial clearance over the lungs is always influenced by mucociliary transport since the lung is a 3-dimensional organ where ciliated and respiratory epithelia overlap. Factor analysis provides factor images and time-activity curves of extracted physiological factors corresponding to specific structures, even if these structures overlap. In 16 inhalation studies of 99m Tc-DTPA aerosol, factor analysis always extracted 2 factors with opposite temporal behavior, one corresponding to epithelial and one to mucociliary transport. Clearance rates measured over the lungs were significantly lower than epithelial transport-related factor curve values (1.35%/min vs 2.2%/min), but were identical with the clearance rates of the sum of both factors plus factor background. Factor analysis allows quantitative assessment of epithelial transport without interference of other clearance mechanisms and should be evaluated further in different pulmonary disorders.

Aerosols↗
PubMed1994

Presence of an expressed beta-tubulin gene (TUBB) in the HLA class I region may provide the genetic basis for HLA-linked microtubule dysfunction.

An expressed beta-tubulin gene (TUBB) has previously been localized to chromosome region 6pter-p21 in man. By using a panel of deletion mutant cell lines and radiation-reduced hybrids containing fragments of chromosome 6, the TUBB locus could be mapped to the HLA class I region at 6p21.3. A long range restriction map including TUBB and several HLA class I genes was then generated by rotating field gel electrophoresis. The results show that TUBB maps to a segment 170-370 kb telomeric of HLA-C. This location suggests that a mutation at the TUBB locus could be the cause for certain forms of HLA-linked microtubule dysfunction, including immotile cilia syndrome.

Animals↗
PubMed1999

[Primary ciliary dyskinesia].

Primary ciliary dyskinesia (PCD) is a congenital disorder of cilia mostly associated with ultrastructural defects and resulting in immotility or abnormal motility, with or without a situs inversus. The defects of cilia in PCD cause chronic or recurrent upper and lower respiratory diseases, such as chronic bronchitis, bronchiectasis, chronic sinusitis and otitis media with effusion. Transmission electron microscopy of sperm or respiratory ciliated mucosa allows specific anatomic diagnosis of PCD. Treatment is symptomatic and directed against complications in the respiratory tract. Early physiotherapy is recommended.

Chronic Disease↗
PubMed2007

Genetic defects in ciliary structure and function.

Cilia, hair-like structures extending from the cell membrane, perform diverse biological functions. Primary (genetic) defects in the structure and function of sensory and motile cilia result in multiple ciliopathies. The most prominent genetic abnormality involving motile cilia (and the respiratory tract) is primary ciliary dyskinesia (PCD). PCD is a rare, usually autosomal recessive, genetically heterogeneous disorder characterized by sino-pulmonary disease, laterality defects, and male infertility. Ciliary ultrastructural defects are identified in approximately 90% of PCD patients and involve the outer dynein arms, inner dynein arms, or both. Diagnosing PCD is challenging and requires a compatible clinical phenotype together with tests such as ciliary ultrastructural analysis, immunofluorescent staining, ciliary beat assessment, and/or nasal nitric oxide measurements. Recent mutational analysis demonstrated that 38% of PCD patients carry mutations of the dynein genes DNAI1 and DNAH5. Increased understanding of the pathogenesis will aid in better diagnosis and treatment of PCD.

Animals↗
PubMed1985

Recurrent respiratory disease, azoospermia, and nasal polyposis. A syndrome that mimics cystic fibrosis and immotile cilia syndrome.

Three adult men with chronic sinopulmonary disease, nasal polyposis, and azoospermia were studied. All had normal sweat chloride values and pancreatic function. The azoospermia was due to a block in the epididymis that was distinguishable from the defect in the vas deferens seen in cystic fibrosis. Cilia structure was normal in sperm tails from testicular biopsy specimens and in cilia from tracheal biopsy specimens. These cases represent a clinical entity distinct from cystic fibrosis and known immotile cilia disorders.

Adult↗
PubMed1983

Defective neutrophil motility in patients with primary ciliary dyskinesia.

Microtubules are important in the regulation of the motile functions of a variety of cells, including leukocytes, ciliated cells and spermatozoa. Polymorphonuclear leukocyte function was studied in ten patients with primary ciliary dyskinesia, an inherited disorder of microtubules in sperm tails and cilia. Neutrophil chemotaxis in Boyden chambers was slightly reduced, but only one patient showed a migration below normal values. In vivo mobilization of polymorphonuclear leukocytes into skin windows was also slightly decreased. In contrast, neutrophil polarization and orientation was normal. The bactericidal activity of neutrophils from patients with primary ciliary dyskinesia was normal, while the ingestion of bacteria was decreased. The abnormalities of neutrophil function in patients with primary ciliary dyskinesia are related to motility. It is suggested that the microtubule defect responsible for the abnormal pattern of ciliary beating is a general abnormality also responsible for the depression of polymorphonuclear leukocyte motility.

Adolescent↗
PubMed1992

The technique of taking brush biopsies of the nasal mucosa for electron microscopy.

Patients suffering from symptoms suggestive of a disorder of mucociliary clearance should be subjected to electron microscopic examination of the ciliated respiratory epithelium. Provided that all crucial points regarding technique and storage are adhered to, brush biopsy of the nasal mucosa is a reliable method facilitating the electron microscopical diagnosis of primary disorders of the ciliated epithelium.

Biopsy↗
PubMed1993

Nitrogen dioxide-induced eosinophilia and mucosal injury in the trachea of the guinea pig.

Nitrogen dioxide exposure-induced mucosal pathology of the guinea pig trachea was studied. Exposure to 3 or 9 ppm of nitrogen dioxide for 6 h a day, 6 times weekly for 2 weeks resulted in decreased ciliary activity as well as a dramatic eosinophil accumulation to the epithelium and submucosal layer. Especially exposure to 9 ppm of nitrogen dioxide induced epithelial injury through the activation of eosinophils accumulated in the tracheal mucosa. The epithelial damage induced by nitrogen dioxide could lead to hyperresponsiveness and prolonged allergic inflammation. Our study suggests that environmental nitrogen dioxide could contribute to the hyperresponsiveness and could most probably be involved in the development and chronicity of airway allergic disorders.

Animals↗