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Results for “Ciliary Motility Disorders”

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At least 145 records · Page 8Linked to original sources
PubMed1995

Ultrastructure and mucociliary transport of bronchial respiratory epithelium in intubated patients.

OBJECTIVE: The objective of this study was to investigate whether reduced bronchial mucus transport velocity (BTV) is associated with a loss of cilia or ultrastructural abnormalities of cilia in intubated patients. DESIGN: The patients were studied prospectively in a convenience sample trial. SETTING: The study took place in a university hospital. PATIENTS AND PARTICIPANTS: 29 orally intubated patients in a surgical ICU. INTERVENTIONS: BTV was measured with radiolabeled microspheres in the right and left primary bronchus. Following these measurements, biopsy samples were taken from the bronchi for scanning (SEM) and transmission (TEM) electron-microscopic investigations. MEASUREMENTS AND RESULTS: SEM: Patients with normal or slight impaired BTV (group 1, n = 14: BTV: 8.5 mm/min (3.8-11.5); median with range) showed more cilia on the luminal surface than patients with markedly depressed BTV (p < 0.05) (group 2, n = 15: BTV: 0 (0-2.1)). The difference was statistically significant. The BTV values correlated moderately with the number of cilia on the luminal surface (r = 0.46; p = 0.02). TEM: In group 1, 6.5% (3.9-14.9) of cilia were abnormal (median with range) vs 9.3% (4.9-13.7) in group 2; these differences were not statistically significant. Neither was there any significant correlation between BTV and the frequency of abnormal cilia. CONCLUSIONS: Impaired mucociliary transport in intubated patients is associated with a loss of cilia rather than ultrastructural abnormalities of cilia, which are less relevant.

Adult↗
PubMed1984

Immotile cilia syndrome: reduced chemotaxis and reduced number of intramembranous particles in granulocytes.

The neutrophil granulocytes of four patients with immotile cilia syndrome were investigated by means of freeze-fracture technique. Whereas most granulocytic functions (adherence, phagocytosis, killing of micro-organisms, reduction of NBT, and chemoluminescence) were in the normal range, chemotaxis of the neutrophils was clearly reduced; their plasma membrane revealed a profound reduction in the density of intramembrane particles. An interrelationship between reduced particle density and defective chemotaxis in neutrophils is assumed, but not yet proven.

Adult↗
PubMed1992

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.

Bronchi↗
PubMed1995

Influence of culture duration and ciliogenesis on the relationship between ciliary beat frequency and temperature in nasal epithelial cells.

Human nasal epithelial cells from excised mucosal specimens were cultured directly in suspension and sequentially on monolayer and in suspension. Ciliary beat frequency (CBF) was measured by fast Fourier transform analysis of computerized microscopic photometry. In biopsy material CBF increased in an approximately linear fashion at 0.6 Hz/degree C between 20 degrees C and 35 degrees C. Above 35 degrees C the increase was lower and was 0.25 Hz/degree C between 40 degrees C and 44 degrees C. CBF increased more rapidly in suspension culture between 25 and 35 degrees C (1 Hz/degree C) but reached a plateau at approximately 40 degrees C and decreased with further temperature elevation. Up to 44 degrees C all changes were reversible, while irreversible slowing and deterioration occurred above 45 degrees C. Values found after 3 weeks' initial suspension culture were similar to those after 6 weeks' sequential monolayer suspension culture. After 3 weeks of ciliogenesis in sequential suspension culture, all values up to 41 degrees C were statistically significantly higher than those under the other conditions. Ciliary activity was maintained and expressed in culture. CBF was higher than in biopsy material and a reversible decrease was observed at high temperature.

Body Temperature↗
PubMed1987

Dyskinetic cilia syndrome: clinical, radiographic and scintigraphic findings.

The clinical, electron microscopic and radiographic data of 9 patients with dyskinetic cilia syndrome (DCS) are presented. Scintigraphic evaluation of mucociliary dynamics in six patients showed evidence of dyskinesia. Ventilation and perfusion studies were performed to evaluate obstructive lung disease. Retrospectively, bronchiectasis could be detected in 77% of the patients by analysis of the chest radiograph and lung scintigraphy, and bronchography potentially avoided in the seven patients who underwent this procedure.

Biopsy↗
PubMed1998

Molds on house walls and the effect of their chloroform-extractable metabolites on the respiratory cilia movement of one-day-old chicks in vitro.

The ciliostatic activity of the chloroform-extractable endo- and exometabolites of 5 strains of filamentous fungi--Alternaria sp., Aspergillus glaucus group, Aspergillus versicolor, Cladosporium sphoerospermum, Penicillium sp. and Ulocladium sp.--isolated from molded walls of a dwelling--on tracheal cilia from 1-d-old chicks in vitro was evaluated. Endometabolites of Alternaria sp. and A. versicolor and exometabolites of Ulocladium sp. were the most active, these extracts stopped the ciliary movement within 1 d. The results are discussed in relation to the health status of people living in "moldy" dwellings.

Age Factors↗
PubMed2000

One year follow-up of the first bilateral living-donor lobar lung transplantation in Japan.

One-year follow-up results on Japan's first bilateral living-donor lobar lung transplantation concern a 24-year-old woman who had become ventilator-dependent due to severe bronchiectasis associated with primary ciliary dyskinesia. Surgery was conducted using her sister's right lower lobe and her mother's left lower lobe. Total forced vital capacity of the 2 transplanted lobes was 51.7% of the recipient's predicted forced vital capacity. One-year after transplantation, her forced vital capacity was 2,160 ml--73.2% of her predicted forced vital capacity. The recipient's sister's decrease in forced vital capacity was 410 ml and that of her mother 440 ml. The recipient and donors have since returned to normal, unrestricted lives.

Adult↗
PubMed1994

[The immotile cilia syndrome. A rare form of male infertility].

A man presented with 100% immotile spermatozoa. Transmission electron microscopy showed the absence of both central tubules in all sperm tails; the nine peripheral tubules, dynein arms, radial spokes and other structures of the sperm tail were normal. Immotile cilia syndrome of the 9 + 0 tubular pattern was diagnosed. Other anomalies frequently associated with immotile cilia syndrome, such as recurrent airway infections, bronchiectases and situs inversus (Kartagener's syndrome), were not present in this case.

Adult↗
PubMed2003

Situs inversus, bronchiectasis, and sinusitis and its relation to immotile cilia: history of the diseases and their discoverers-Manes Kartagener and Bjorn Afzelius.

The relationship of Kartagener's syndrome to immobile cilia syndrome is a fascinating merging of clinical observations and basic science in Zurich, Stockholm, and Toronto. In 1933, Manes Kartagener, a Zurich pulmonary physician, reported four patients with the triad of sinusitis, bronchiectasis, and situs inversus. In the following decades, he reviewed reports of hundreds of cases, but the fact that the male patients with the condition never had offspring eluded his notice. In the 1970s, Bjorn Afzelius, a Ph.D. ultrastructuralist from Stockholm, reported cilia immotility in infertile males, some of the cases occurring in families. Half of the cases had Kartagener's triad. The observation of Afzelius was soon applied to children by Jennifer Sturgess, a Ph.D. ultrastructuralist, and her medical colleagues in Toronto. With over 500 MEDLINE references since 1966 on Kartagener's and over 1,000 references on immotile cilia, the causes of the pulmonary infections have become clearer as the patients demonstrate impaired clearance of mucus with resultant sinus and bronchial disease. The cause of the situs inversus remains elusive to this day. It is appropriate to call the condition Kartagener-Afzelius syndrome.

Canada↗
PubMed1999

Genomic organization of the HSET locus and the possible association of HLA-linked genes with immotile cilia syndrome (ICS).

The kinesin-related protein (HSET) gene belongs to the kinesin superfamily, the members of which are involved in cellular transport processes. The HSET gene product was previously characterized by partial cDNA sequencing. The gene is located on the short arm of human Chromosome 6 (6p21.3), at the centromeric end of the major histocompatibility complex. Here, we report the genomic structure of the complete HSET gene together with its flanking loci. Sequence analysis of the 40 kilobase (kb) cosmid clone containing the HSET gene also revealed the presence of several new genes not related to the kinesin superfamily. These include a 60S ribosomal protein L35A-like pseudogene (rPL35A-like) on the telomeric side and a polycomb-like gene (PHF1), a copper tolerance-like gene (CUTA1) and the 5' part of the synaptic ras-GTPase-activating protein (SynGAP) gene centromeric of HSET. In addition, a complete 60S ribosomal protein L12-like (rPL12L) gene in intron 3 of the HSET gene was identified which appears to have an open reading frame. The possible involvement of the HSET gene and a beta-tubulin gene (TUBB) in the pathogenesis of immotile cilia syndrome (ICS) was studied by screening two unrelated ICS families with microtubular defects and suspected HLA linkage for mutations within the HSET gene and the TUBB gene. Four single base substitutions were detected in the HSET gene, and none in the TUBB gene. On the basis of these data, a role of the HSET and TUBB products in the pathogenesis of ICS in the two families is unlikely.

Amino Acid Sequence↗
PubMed1998

A comparative study of the ciliary area of the maxillary sinus mucosa and computed tomographic images.

The ciliary area of the maxillary sinus mucosa and coronal sinus computed tomographic (CT) scans were studied in 36 maxillary sinuses of 28 patients with chronic sinusitis. Tissue specimens allowed ciliary surfaces to be observed under scanning electron microscopy, allowing surfaces to be expressed in terms of ciliary area (CA) as the percentage of mucosal surface occupied by cilia. The opacity produced by mucosal swelling and secretion in the maxillary sinus on CT was assessed by two methods: Min's and modified van der Veken's methods. Both techniques indicated an inverse correlation between opacity of the maxillary sinus and CA. Our findings suggest that the opacity of maxillary sinus on CT could be a significant parameter for predicting the surface conditions of ciliated maxillary mucosa prior to sinus surgery.

Adult↗
PubMed1999

Alterations of nasal mucociliary transport in patients with hypertrophy of the inferior turbinates, deviations of the nasal septum and chronic sinusitis.

Mucociliary transport (MCT) represents the first barrier of the nasal fossae and paranasal sinuses against various biological and physical insults. We studied the nasal MCT time using a mixture of vegetable charcoal powder and 3% saccharin in three groups of patients suffering from hypertrophy of the inferior turbinates, deviations of the nasal septum or chronic sinusitis. The mean values of the nasal MCT in the first two groups were practically identical to the normal ones. In contrast, significantly delayed times were found in patients with chronic sinusitis (P < 0.01). Findings indicate that this delay is determined by an increase in viscoelasticity of the mucus following the acute release of mediators of inflammation, together with a reduction in the periciliary stratum, which slows down the metachronous wave of the MCT.

Adolescent↗
PubMed2000

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.

Adult↗
PubMed1998

Primary ciliary dyskinesia: evolution of pulmonary function.

UNLABELLED: Pulmonary function tests were obtained in 11 patients with primary ciliary dyskinesia. Their mean age was 15 years (range 6-32). Their pulmonary function was obstructive, with a vital capacity (mean+/-SD) of 75%+/-20% predicted, a forced expiratory volume in 1s (FEV1) of 63%+/-20% predicted and a raised residual volume of 169%+/-50% predicted. After inhalation of 200 microg of salbutamol the mean change in FEV1 was + 13.2%+/-9.6% of the baseline value. In the 10 oldest patients, lung function had been measured at regular intervals during 3 20 years. Interestingly, during childhood and adolescence the evolution was not unfavourable: vital capacity increased by 8%+/-20% and FEV1 remained stable (mean change 0.3%+/-12%). Only 2 patients had an unfavourable evolution. CONCLUSION: At time of diagnosis, patients with primary ciliary dyskinesia have partially reversible obstructive airway disease. During regular follow up and therapy, there is no evidence of a further decline in lung function. Patients with associated immunodeficiency or important damage at the start of therapy may have a worse prognosis.

Adolescent↗
PubMed2006

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

We report on a large family in which a novel X-linked recessive mental retardation (XLMR) syndrome comprising macrocephaly and ciliary dysfunction co-segregates with a frameshift mutation in the OFD1 gene. Mutations of OFD1 have been associated with oral-facial-digital type 1 syndrome (OFD1S) that is characterized by X-chromosomal dominant inheritance and lethality in males. In contrast, the carrier females of our family were clinically inconspicuous, and the affected males suffered from severe mental retardation, recurrent respiratory tract infections and macrocephaly. All but one of the affected males died from respiratory problems in infancy; and impaired ciliary motility was confirmed in the index patient by high-speed video microscopy examination of nasal epithelium. This family broadens the phenotypic spectrum of OFD1 mutations in an unexpected way and sheds light on the complexity of the underlying disease mechanisms.

Alleles↗
PubMed2000

The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) is an autosomal recessive disease characterized by chronic sinusitis and bronchiectasis, and usually associated with hypofertility. Half of the patients present a situs inversus, defining the Kartagener's syndrome. This phenotype results from axonemal abnormalities of respiratory cilia and sperm flagella, i.e., mainly an absence of dynein arms. Recently, a candidate-gene approach, based on documented abnormalities of immotile strains of Chlamydomonas reinhardtii, allowed us to identify the first gene involved in PCD. Following the same strategy, we have characterized DNAI2, a human gene related to Chlamzydomonas IC69, and evaluated its possible involvement in a PCD population characterized by an absence of outer dynein arms. DNAI2, which is composed of 14 exons located at 17q25, is highly expressed in trachea and testis. No mutation was found in the DNAI2 coding sequence of the twelve patients investigated. However, ten intragenic polymorphic sites and an EcoRI RFLP have been identified, allowing the exclusion of DNAI2 in three consanguineous families.

Adolescent↗