Disorders of ciliary motility.
Explore the source record for details and available documents.
Biological Transport↗
SEARCH · PubMed Health
Results for “Ciliary Motility Disorders”
Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
[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↗
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↗
Ciliary activity and pollution.
The mucociliary clearance is an important part of the nonspecific defense mechanism of the human airways. Coordinated beats of cilia in the nose, trachea, and bronchi propel the mucous layer toward the pharynx, and with it inhaled microorganisms and other particles captured in the mucus. Normal function of this system depends on the efficacy of the ciliary beating and the properties of mucus. Primary ciliary dyskinesia--a congenital respiratory disease characterized by ultrastructural defects and motility disturbances of cilia--has provided us with valuable information about the role the mucociliary function plays in the protection against harmful agents in the inhaled air. Secondary ciliary dyskinesia is described in inflammatory disorders of the respiratory tract, but also some components in air pollution results in malfunction of cilia, damage of ciliated epithelium, or alteration in the mucus. This review will focus on investigations found in the literature concerning the influence of pollutants on ciliary activity. The methods applied will be evaluated.
Air Pollution↗
[Clinical and ultrastructural study on primary ciliary dyskinesia].
We evaluated laboratory and radiological findings and examined tracheobronchial cilia by transmission electron microscopy in 9 patients with primary ciliary dyskinesia (PCD), in order to elucidate the clinical pictures of PCD and the relationship between PCD and diffuse panbronchiolitis (DPB) which was proposed as a new disease entity in Japan in 1969. The clinical pictures of our PCD patients were almost the same as that already described in several articles in Europe and North America; early onset of respiratory symptoms, high incidence of chronic sinusitis and otitis media exudative as well as infertility, continuous infections in the lower respiratory tracts (Hemophilus influenzae, Pseudomonas aeruginosa etc.). Tracheobronchial cilia obtained by brushing technique were immotile (6 out of 8 patients) or dyskinetic (2 out of 8 patients). Ultrastructural study of cilia revealed the lack of dynein arms in all patients: the lack of both outer and inner arms (4 patients), the lack of outer arms (2 patients), the lack of inner arms (2 patients). Chest X-ray films revealed situs inversus in six out of nine patients. According to the radiological findings (chest X-ray film, CT-scan, bronchogram), the patients were divided into three groups; I: localized bronchiectasis (5 patients), II: diffuse micronodular lesions without definite bronchiectasis (3 patients), III: diffuse micronodular lesions with bronchiectasis (1 patient). Two patients of the second group satisfied the clinical diagnostic criteria for DPB (Chest 83:63, 1983). In conclusion, PCD can cause a variety of respiratory tract lesions such as bronchiectasis, DPB and other types of peripheral airway disorders.
Adult↗
[The significance of disorders of tracheobronchial clearance in the development and course of chronic nonspecific lung diseases].
Explore the source record for details and available documents.
Bronchi↗
Congenital ciliary aplasia in two siblings. A primitive disregulation of ciliogenesis?
Congenital ciliary aplasia was demonstrated in two siblings with clinical history of primary ciliary dyskinesia. Ultrastructural histochemistry of successive bronchial biopsies revealed the predominance of immature mucous cells and the total absence of ciliated or preciliated cells in the respiratory epithelium. This original disorder may represent a unique variant of primary ciliary dyskinesia with primitive disregulation of ciliogenesis.
Biopsy↗
A Novel Homozygous Mutation in ARL2BP Causes Multiple Morphological Abnormalities of the Flagella and Primary Ciliary Dyskinesia.
Primary ciliary dyskinesia (PCD) and multiple morphological abnormalities of the sperm flagella (MMAF) frequently co-occur in male infertility. However, the genetic basis of this syndromic presentation remains unclear. Using whole-exome sequencing, we identified a novel homozygous ARL2BP splice-site mutation (c.294-2A>G) in a 23-year-old infertile male from a consanguineous family who presented with syndromic PCD and MMAF. This variant causes aberrant pre-mRNA splicing and triggers nonsense-mediated mRNA decay, resulting in the complete absence of ARL2BP protein expression. Transmission electron microscopy revealed extensive disorganization of flagellar axonemes with consistent central pair (CP) microtubule depletion and disorganization of peripheral doublets. Immunofluorescence confirmed a severe deficiency of the CP protein SPAG6 in the sperm flagella. Notably, the patient presented without retinal symptoms. Given that ARL2BP-related retinitis pigmentosa generally emerges during the third decade, long-term ophthalmological follow-up is essential to detect delayed-onset retinal degeneration. In conclusion, these findings confirm ARL2BP as a causative gene for both PCD and MMAF, expanding the genotypic and phenotypic spectrum of ciliopathies.
Humans↗
Primary mucociliary transport failure.
Among the disorders associated with male infertility and chronic sinopulmonary infections, primary ciliary dyskinesia or cystic fibrosis is characterized by ciliary dysfunction or abnormality of mucus secretion. In addition, Young's syndrome differs from the former because of the absence of ultrastructural cilia disorders and from the latter because of normal sweat and pancreatic functions. However, a number of manifestations seen in these disorders appear to overlap each other, e.g., male infertility and chronic sinopulmonary infections which often develop bronchiectasis. Therefore, I would like to propose that the term 'muco(secretion)ciliary transport failure' is used for illnesses in patients with primary impairment of mucosecretion and/or ciliary transport in organs containing the mucociliary transport system. Primary mucociliary transport failure encompasses three hereditary disorders, that is, primary ciliary dyskinesia, cystic fibrosis and Young's syndrome. Ciliary activity is closely associated with mucus production. For a better understanding of the relationship between ciliary activity and mucus production, further basic and clinical studies should be attempted.
Animals↗
[Primary ciliary dyskinesia; a questionnaire study of the clinical aspects].
With the aid of a questionnaire form we have gathered information about the clinical picture of patients suffering from primary ciliary dyskinesia. The study group numbered 34 persons, whose diagnosis was confirmed by electron microscopy. Chronic cough and common cold symptoms are present from shortly after birth. Twenty-three respondents reported respiratory tract problems in the neonatal period. The dysfunctional cilia result in chronic respiratory tract infections (chronic bronchitis; bronchiectasis; pneumonia; chronic sinusitis, rhinitis or otitis media). These lead to the following complaints: frequent blowing of the nose (in 32 pat.; 94%), chronic productive cough (in 28 pat.; 82%), chronic common cold (in 26 pat.; 77%), hearing problems (in 24 pat.; 71%), shortness of breath (in 23 pat.; 68%), frequent headache (in 13 pat.; 38%) and sore throat (in 9 pat.; 27%). In order to prevent the invalidating consequences of this disorder appropriate steps should be taken as soon as possible. These should include physiotherapy and adequate antibiotic therapy.
Adolescent↗
Inherited factors in diffuse bronchiectasis in the adult: a prospective study.
To evaluate the prevalence of inherited respiratory ciliary structure and underlying mucus abnormalities in the diffuse bronchiectasis syndrome, we investigated 53 subjects comprising 38 patients with diffuse bronchiectasis confirmed by high-resolution thoracic computed tomography, ten with chronic bronchitis and no diffuse bronchiectasis and five healthy nonsmoking control subjects. The clinical history was determined by means of a standardized questionnaire. Axonemal abnormalities of respiratory cilia were evaluated on bronchial or nasal mucosa samples by transmission electron microscopy (structure) and stroboscopic observation (function). Cystic fibrosis (CF) and Young's syndrome were detected by means of the sweat test and semen analysis when male infertility was suspected. Among the 38 patients with diffuse bronchiectasis, a primary ciliary dyskinesia (PCD) was detected in five (13%) with a high proportion (range: 55-100%) of cilia showing axonemal ultrastructural abnormalities always involving the dynein arms. The prevalence of this inherited condition was higher in North African (36%) than in European patients (4%) (p less than 0.01). After exclusion of the five patients with PCD, the patients with diffuse bronchiectasis showed axonemal ultrastructural abnormalities similar to those with chronic bronchitis. The diagnosis of underlying mucus disorders was based on two types of criterion, i.e. for CF, sweat chloride levels greater than 80 mmol.l-1, or the combination of diagnostic criteria proposed by Stern et al. Respectively, five (three Young's syndrome and two CF) and seven (one Young's syndrome and six CF) cases of inherited mucus disorders were suspected. Our results showed that PCD was highly prevalent among the adult North African patients with diffuse bronchiectasis but relatively rare in the Europeans.
Adult↗
[The concept of "organellopathies"--component of modern cellular pathology].
Review is made to an account of contemporary knowledge on cell organelles in an attempt to describe organellopathies known at present together with their relations with diseases and syndromes. Organellopathy is defined as a disease, with its primary effect and/or primary morphological and functional alterations being located in the organelle population of one or several cell types. Mitochondriopathies (mitochondrial disorders), lysosomopathies (lysosomal disease), peroxisomopathies (peroxisomal disorders), ciliopathies (ciliary diseases), and plasma membranopathies (brush border membrane diseases) have so far been most comprehensively characterised and are associated with distinctive clinical pictures. However, unambiguously characterised pathies are almost completely absent with regard to other organelles. With numerous ideas still being of speculative nature, the concept of organellopathies as such may be considered as an element of modern cellular pathology.
Cell Membrane↗
Primary ciliary dyskinesia.
Primary ciliary dyskinesia represents a group of heritable disorders of cilia and sperm affecting between 1 in 15,000 and 1 in 30,000 persons. Those affected lack measurable mucociliary clearance and suffer the constant misery of rhinorrhea and chronic productive cough. Because mucociliary clearance constitutes one of the respiratory system's major lines of defense, these patients are vulnerable to chronic sinusitis, bronchitis, pneumonia, and otitis media. Left untreated, these problems may progress to bronchiectasis, found frequently in adult patients, or pulmonary hypertension with eventual cor pulmonale. Screening for this disorder includes some simple and inexpensive methods as well as more exotic techniques requiring special camera equipment and an electron microscope to make a definitive diagnosis. Physiotherapy techniques can be taught to patients with primary ciliary dyskinesia and go a long way toward making up for the lack of mucociliary clearance. Vigorous bronchopulmonary toilet and palliative measures may enable these patients to enjoy relatively normal lives.
Ciliary Motility Disorders↗
[Effectiveness of pharmacologic and non-pharmacologic methods of restoring bronchial patency].
Assessment is given of the effect of the medicamentous (administration of oral and inhalation of expectorant agents) and non-medicamentous (sauna) methods of treatment of disorders of mucociliary transport. The effect of the treatment was judged by its influence on the time of expectoration with sputum of blood containing agents after their inhalation. The most effective method for the restoration of bronchial drainage proved to be the use of expectorants administered by inhalation and less effective sauna. Therapeutic methods should be chosen with consideration of the degree of mucociliary insufficiency.
Bronchi↗
[Structure, function and pathophysiology of mucociliary transport system].
There has been growing appreciation of the significant role played by the mucociliary transport system in the body. The mucociliary transport system is an important defense mechanism by which the human body usually maintains its "homeostasis" by protecting the body against invading particles, including bacteria. This system includes two major functional mechanisms; i.e., ciliary transport and mucous secretional systems, each of which is usually complimentary and cooperative. Three hereditary disorders, primary ciliary dyskinesia (immotile-cilia syndrome), cystic fibrosis and Young's syndrome, have been shown to be systemically associated with mucociliary transport failure, leading to male infertility and chronic sinopulmonary infections. Localized mucociliary transport failure, however, is observed in respiratory diseases, especially chronic sinusitis, chronic bronchitis, bronchiectasis and bronchial asthma. We aim, in this review, to draw together those developments in the study of ciliary transport and mucous secretion, the interactions between them and their pathophysiology that can provide a better understanding of the mucociliary transport system of the human body.
Cilia↗
[Expectoration disorders in patients with chronic obstructive lung diseases].
The paper is concerned with an analysis of the original data and the conception regarding the pathogenesis of expectoration alterations and correction in patients with chronic obstructive pulmonary diseases (COPD). Expectoration defects in COPD are suggested to be classified according to duration of respiratory tract clearing from sputum. The disorders of the first and second degree amenable to correction by oral and inhalation expectorants are referred to compensation stage, those of the third degree resistant to the correction to decompensation stage. Efficiency of current expectorants is comparatively assessed as well as mechanisms of their actions. An approach to expectorants administration should be differential basing on the severity of relevant impairment and aimed at adequate maintenance or recovery of the sputum discharge in COPD patients.
Ciliary Motility Disorders↗
Aplasia of respiratory tract cilia.
We report on ciliary aplasia of the respiratory tract, a rare disorder of the mucociliary apparatus, that is insufficiently recognized as a distinct entity. A culture method for ciliogenesis was developed by our laboratory and offers the advantage of studying cilia free of secondary changes associated with infection. Three cases of primary ciliary aplasia were documented histologically in direct biopsy specimens and also in biopsy specimens cultured specifically for ciliogenesis. Primary ciliary aplasia should be differentiated from secondary ciliary aplasia in which basal bodies are present and ciliogenesis takes place in specific culture. Only hereditary ciliary abnormalities are expressed in cell cultures. We critically review the cases of ciliary aplasia reported to date.
Bronchi↗
[Mucociliary transport and bronchial inflammation].
The system of mucociliary clearance has the important task to remove from the airways inhaled substances and locally formed secretions. Inborn disorders of the mucociliary transport are the result of ciliary dysfunction (primary ciliary dyskinesia) or of increased viscosity of the bronchial secretions (mucoviscidosis). By far more frequency however are acquired disturbances. Inflammation of the airways results nearly always in disorder of the mucociliary transport which in early stages is reversible. With morphologic lesions, the disturbance may become irreversible. Infectious inflammations, especially those by rhinoviruses and mycoplasma, are causing ciliostatic and ciliotoxic alterations which may disturb the mucociliary clearance up to one year following the infection. Noninfectious inflammation is at first accelerating the transport of mucus through the action of cells of the body itself, especially granulocytes and eosinophiles and mediators liberated from them. Probably, these are causing a cilioexcitation which is later followed by a long-lasting depression of the mucociliary transport caused by production of mucus with high viscosity. Therapeutic measures consist in an early anti-infectious treatment and in the stimulation of the frequency of ciliary beating by beta-adrenergic drugs.
Bronchi↗