[Kartagener's syndrome: an infrequent cause of respiratory distress in neonates].
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Ciliary Body↗
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Results for “Ciliary Motility Disorders”
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[Clinical and ultrastructural evaluation of nasal mucociliary function in HIV-positive patients. Preliminary investigation].
Nasal mucociliary transport was studied in 33 HIV-positive patients with different stages of infection. Ciliary ultrastructure was studied in 8 of these cases. At the time of study, 24 patients had respiratory infections. Disturbances in mucociliary transport were found in 25 cases. In 6 of the 8 studies of ciliary ultrastructure, changes in the ciliary axonema were found, particularly in the central and peripheral microtubules.
Adult↗
[Tracheo bronchial mucociliary clearance].
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Bronchial Diseases↗
[Clinical features and ultrastructure of primary ciliary dyskinesia and Young syndrome].
A study was conducted of the clinical manifestations and ultrastructure in a series of seven patients with repeated pulmonary infections and infertility (3 cases with primary ciliary dyskinesia [PCD] and 4 with the young syndrome [YS]). Clinical and functional respiratory changes were more marked among cases of PCD. The seminogram showed azoospermia in cases with YS and hypospermia with marked hypomotility in cases with PCD. A nasal mucosa biopsy specimen was obtained from all patients to perform a transmission electron microscopy (EM) investigation. Patients with YS did not have pathognomonic ultrastructural changes, whereas patients with PCD had a large number of ciliary abnormalities (23.3% +/- 1.5%); 14% +/- 7% of them corresponded to nonspecific ciliary changes and the remaining abnormalities to congenital ciliary changes (ciliary disorientation in three cases, defective radial spokes in one case and microtubule transposition in one case). EM is a useful technique which is recommended for the differential diagnosis in this group of patients.
Adult↗
Bronchial and alveolar allergen-induced anaphylaxis and the stimulation of bronchial mucociliary clearance in ragweed-sensitized dogs.
In allergic airways disease, we hypothesized that an acute allergen inhalation activates cells in the bronchial and alveolar regions of the lungs to initiate cardiopulmonary anaphylactic responses that include the stimulation of bronchial mucociliary clearance. Seven beagles were neonatally sensitized to ragweed allergen, and four were sham-sensitized. Adult dogs were anesthetized with propofol and etomidate. Bronchial retention of radiotagged particles deposited in the lungs was monitored with a gamma camera. Then 0.4-1.8 micrograms of ragweed allergen was deposited either proximally or peripherally in the lungs while achieving a similar total mass deposited. Both proximal and peripheral allergen deposition elicited cardiopulmonary responses characteristic of anaphylaxis. Following proximal allergen deposition, the mean bronchial mucuciliary clearance at 60 min increased from 27.5% +/- 4.9% to 59.9% +/- 3.3% (p < .01), and following peripheral deposition it increased from 5.9% +/- 3.1% to 52.9% +/- 7.2% (p < .01). No allergen-induced suppression of bronchial mucociliary clearance was detected within the 140-min postexposure period. No changes in cardiopulmonary responses or bronchial mucociliary clearance in the unsensitized dogs could be ascribed to the inhalation of allergen. Both the bronchi and alveoli are target sites for the initiation of allergen-induced respiratory and cardiovascular anaphylactic responses and the stimulation of bronchial mucociliary clearance.
Allergens↗
[A case of Mycobacterium intracellulare infection associated with sinobronchial syndrome].
The patient was 71-year-old male with a history of sinobronchial syndrome since 8 years ago. He has been suffering from cough, sputum and upper abdominal discomfort since January 1994. He was diagnosed as an early gastric cancer by endoscopy, and his chest X-ray film showed an infiltrative shadow in the right upper lung field. A smear of the sputum specimen was positive for acid fast bacilli, which were later identified as Mycobacterium intracellulare. In this case, before the Mycobacterium intracellulare infection, it was confirmed that his mucociliary transport was severely impaired by using aerosol inhalation cine-scintigraphy. This case suggests that an impairment of the local defence mechanisms may play an important role in the pathogenesis of Mycobacterium intracellulare infection.
Aged↗
[Primary ciliary dyskinesia with frontal sinus agenesis].
A 36-year-old man had a history of recurrent respiratory infections and bilateral bronchiectasis. Sinus radiography showed absence of the frontal sinuses. Electron microscopy of the bronchial mucosa revealed ultrastructural ciliary abnormalities. The clinical features and diagnosis of primary ciliary dyskinesia are described.
Adult↗
[Primary ciliary dyskinesia in situs inversus without bronchiectasis].
BACKGROUND: In adults suffering from Kartagener's syndrome-which is found in 50% of patients with primary ciliary dyskinesia (PCD)-bronchiectasis is still one of three typical clinical features. In this condition it is caused by chronic bacterial inflammation as a result of impaired mucociliary clearance in congenital ciliary dysfunction. Little information is available on the incidence, age-related development and prophylactic therapy of bronchiectasis in children suffering from PCD. CASE REPORT/RESULTS: We describe the case of a 2-year old boy with clinical features of Kartagener's syndrome who showed impaired ciliary motility and typical ultrastructural defects of PCD. Bronchiectasis was excluded by bronchography. CONCLUSIONS: The diagnosis of PCD implies disturbed ciliary motility and abnormal ultrastructure of the cilia. In 50% of cases PCD is associated with situs inversus and is then referred to as kartagener's syndrome, whereas situs inversus itself does not define Kartagener's syndrome. Bronchiectasis is not necessarily present in children with PCD. Physiotherapy, inhalations, vaccinations and early antibiotic treatment may be of prophylactic value in preventing bronchiectasis. Early start of the life-long treatment depends on early diagnosis which should be based on well-defined criteria.
Aging↗
[Incomplete ciliary axonema: anther cause of ciliary dysmotility syndrome?].
Immotile cilia syndrome is associated with different ciliary defects, although the clinical presentation is similar in every case. A study was made of a 36-year-old woman with recurrent respiratory infections since birth, chronic sinusitis and chronic bronchitis with bronchiectasias. Her medical history included a tubaric pregnancy and two miscarriages. Nasal mucociliary transport was investigated on two occasions at a 1-year interval using an isotopic technique. Ciliary ultrastructure was studied by electron microscopy after obtaining two biopsies from the inferior and middle turbinates separated by a 1-year interval. The sweat test and blood immunoglobulins were normal. The absence of mucociliary transport was verified on both occasions. An abnormality was observed in 30% of the cilia in the form of semicircular ciliary cross-sections, with only 7 pairs of peripheral microtubules. The central pair was normal. We termed this anomaly "incomplete ciliary axonema" and believe that it could be another cause of immotile cilia syndrome.
Adult↗
[Diagnostic usefulness of radioisotope study of nasal mucociliary transport in patients with recurrent respiratory infections].
Mucociliary transport system is thee most primitive and essential airway defense mechanisms. Primary ciliary dyskinesia syndrome (PCDS), an inherited recessive autosomal disease, produces an absence of mucociliary transport, therefore chronic upper and lower airways infections since birth. The study of nasal mucociliary transport by Seroalbumin-Tc99m method is very useful in the diagnosis of this syndrome. According to our experience, mucociliary stasis in a patient with chronic respiratory airways infections is a typical condition of PCDS. Normal nasal mucociliary transport velocity discards the PCDS.
Adolescent↗
[Regulation and pathophysiology of airway secretion].
Although excessive production of sputum is one of the characteristic features of acute and chronic respiratory infections, bronchiectasis, diffuse panbronchiolitis, chronic bronchitis and asthma, pathophysiological mechanisms underlying airway hypersecretion remain uncertain. The increase in intraluminal mucus may lead to impairment of airway mucociliary clearance and deterioration of bronchial obstruction. Airway surface fluid is composed of mucus glycoprotein released from submucosal glands and goblet cells and water from airway epithelial cells, and the secretory function can be regulated by autonomic nervous system and a variety of chemical mediators. It is thus important to select mucoregulating drugs after understanding the mechanisms of hypersecretion and impaired mucociliary transport under individual conditions.
Anti-Bacterial Agents↗
Primary ciliary dyskinesia in Newfoundland dogs.
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Animals↗
Specific types of abnormal ciliary motility in Kartagener's syndrome and analogous respiratory disorders. A quantified microphoto-oscillographic investigation of 27 patients.
Twenty seven patients with clinical evidence of lack of mucociliary activity of cilia, which include Kartagener's syndrome and termed in recent years immotile cilia syndrome or primary ciliary dyskinesia, were studied by a newly developed microphoto oscillografic technique, to determine different qualities in the ciliary motility pattern in vitro. Abnormal ciliary motility was compared to the findings at transmission electron microscopy. The patients could be allocated to groups, characterized by different abnormalities in ultrastructure and function. One patient who lacked both inner and outer dynein arms, and had total ciliary immotility. Eight who only lacked outer dynein arms had a low beating frequency, reduced number of cells with motile cilia and ciliary asynchrony. Seven with microtubular disarrangement (spoke defect) had cilia which beat asynchroneously and with short, stiff strokes. Two patients had random orientation of ciliary axes and one supernumerous microtubules, all were characterized by slight ciliary asynchrony. Eight patients had normal cilia ultrastructure, but an abnormal beating pattern, usual characterized by hyperfrequent and trembling ciliary movements (hypermotile). These groups seem to constitute separate types of congenital ciliary defects.
Adolescent↗
Functional genomics of the cilium, a sensory organelle.
Cilia and flagella play important roles in many physiological processes, including cell and fluid movement, sensory perception, and development. The biogenesis and maintenance of cilia depend on intraflagellar transport (IFT), a motility process that operates bidirectionally along the ciliary axoneme. Disruption in IFT and cilia function causes several human disorders, including polycystic kidneys, retinal dystrophy, neurosensory impairment, and Bardet-Biedl syndrome (BBS). To uncover new ciliary components, including IFT proteins, we compared C. elegans ciliated neuronal and nonciliated cells through serial analysis of gene expression (SAGE) and screened for genes potentially regulated by the ciliogenic transcription factor, DAF-19. Using these complementary approaches, we identified numerous candidate ciliary genes and confirmed the ciliated-cell-specific expression of 14 novel genes. One of these, C27H5.7a, encodes a ciliary protein that undergoes IFT. As with other IFT proteins, its ciliary localization and transport is disrupted by mutations in IFT and bbs genes. Furthermore, we demonstrate that the ciliary structural defect of C. elegans dyf-13(mn396) mutants is caused by a mutation in C27H5.7a. Together, our findings help define a ciliary transcriptome and suggest that DYF-13, an evolutionarily conserved protein, is a novel core IFT component required for cilia function.
Animals↗
Extracellular sodium regulates airway ciliary motility by inhibiting a P2X receptor.
The mucociliary system is responsible for clearing inhaled particles and pathogens from the airways. This important task is performed by the beating of cilia and the consequent movement of mucus from the lungs to the upper airways. Because ciliary motility is enhanced by elevated intracellular calcium concentrations, inhibition of calcium influx could lead to disease by jeopardizing mucociliary clearance. Several hormones and neurotransmitters stimulate ciliary motility, one of the most potent of which is extracellular ATP (ATP0), which acts by releasing calcium ions from internal stores and by activating calcium influx. Here we show that, in airway ciliated cells, extracellular sodium ions (Na+(0)) specifically and competitively inhibit an ATP0-gated channel that is permeable to calcium ions, and thereby attenuate ATP0-induced ciliary motility. Our finding points to a physiological role for Na+(0) in ciliary function, and indicates that mucociliary clearance might be improved in respiratory disorders such as chronic bronchitis and cystic fibrosis by decreasing the sodium concentration of the airway surface fluid in which the cilia are bathed.
Adenosine Triphosphate↗
Isolation, in silico characterization and chromosomal localization of a group of cDNAs from ciliated epithelial cells after in vitro ciliogenesis.
BACKGROUND: Immotile cilia syndrome (ICS) or primary ciliary dyskinesia (PCD) is an autosomal recessive disorder in humans in which the beating of cilia and sperm flagella is impaired. Ciliated epithelial cell linings are present in many tissues. To understand ciliary assembly and motility, it is important to isolate those genes involved in the process. RESULTS: Total RNA was isolated from cultured ciliated nasal epithelial cells after in vitro ciliogenesis and expressed sequenced tags (ESTs) were generated. The functions and locations of 63 of these ESTs were derived by BLAST from two public databases. These ESTs are grouped into various classes. One group has high homology not only with the mitochondrial genome but also with one or more chromosomal DNAs, suggesting that very similar genes, or genes with very similar domains, are expressed from both mitochondrial and nuclear DNA. A second class comprises genes with complete homology with part of a known gene, suggesting that they are the same genes. A third group has partial homology with domains of known genes. A fourth group, constituting 33% of the ESTs characterized, has no significant homology with any gene or EST in the database. CONCLUSIONS: We have shown that sufficient information about the location of ESTs could be derived electronically from the recently completed human genome sequences. This strategy of EST localization should be significantly useful for mapping and identification of new genes in the forthcoming human genome sequences with the vast number of ESTs in the dbEST database.
Cells, Cultured↗
Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients.
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by chronic infections of the upper and lower airways, randomization of left/right body asymmetry, and reduced fertility. The phenotype results from dysfunction of motile cilia of the respiratory epithelium, at the embryonic node and of sperm flagella. Ultrastructural defects often involve outer dynein arms (ODAs), that are composed of several light (LCs), intermediate, and heavy (HCs) dynein chains. We recently showed that recessive mutations of DNAH5, the human ortholog of the biflagellate Chlamydomonas ODA gamma-HC, cause PCD. In Chlamydomonas, motor protein activity of the gamma-ODA-HC is regulated by binding of the axonemal LC1. We report the identification of the human (DNAL1) and murine (Dnal1) orthologs of the Chlamydomonas LC1-gene. Northern blot and in situ hybridization analyses revealed specific expression in testis, embryonic node, respiratory epithelium, and ependyma, resembling the DNAH5 expression pattern. In silico protein analysis showed complete conservation of the LC1/gamma-HC binding motif in DNAL1. Protein interaction studies demonstrated binding of DNAL1 and DNAH5. Based on these findings, we considered DNAL1 a candidate for PCD and sequenced all exons of DNAL1 in 86 patients. Mutational analysis was negative, excluding a major role of DNAL1 in the pathogenesis of PCD.
Amino Acid Motifs↗
Piecing together a ciliome.
Cilia are slender microtubule-based appendages that emanate from the surfaces of a large proportion of eukaryotic cells. The motile and non-motile forms of cilia represent bona fide organelles comprising distinct repertoires of proteins that serve specific roles in locomotion or fluid movement, and sense chemical or physical extracellular cues. Owing in part to the growing number of genes associated with ciliary disorders, such as polycystic kidney disease and Bardet-Biedl syndrome, there has been a recent profusion of studies aimed at unveiling the protein makeup of cilia. The approaches used are complementary, involving several different organisms and spanning the fields of bioinformatics, genomics and proteomics. Here we review these studies and assess the various data sets to help define a comprehensive ciliary proteome, or 'ciliome'. We have compiled a cilia protein database that includes known cilia-associated proteins and numerous putative ciliary proteins including RAB-like small GTPases, which might be implicated in vesicular trafficking, and the microtubule-binding protein MIP-T3, some of which might be associated with ciliopathies.
Animals↗