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Results for “Ciliary Motility Disorders”

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At least 307 records · Page 17Linked to original sources
PubMed2005

Mucociliary transport using 99mTc-albumin colloid: a reliable screening test for primary ciliary dyskinesia.

BACKGROUND: A study was undertaken to assess the reliability of the nasal mucociliary transport test using 99mTc-albumin colloid as a screening test for primary ciliary dyskinesia (PCD) and to compare it with the gold standard nasal biopsy for study of ciliary motility and ultrastructure. METHODS: During a 4 year period both tests were performed in 55 children referred with persistent or recurrent respiratory tract infections. Their median age was 4 years (range 1 month to 15 years). RESULTS: The nasal biopsy results were as follows: PCD, n = 8; secondary ciliary dyskinesia (SCD), n = 19; normal, n = 28. The mucociliary transport test was abnormal in 29 patients (all 8 with PCD, 7/19 with SCD, and 14/28 with a normal biopsy). The sensitivity of the mucociliary transport test to diagnose PCD was therefore 100% (8/8) (95% exact confidence limits 63.06 to 100.00); the specificity was only 55% (26/47) (40.95 to 69.89). The negative predictive value was 100% (26/26) (86.77 to 100.00) and the positive predictive value was 28% (8/29) (12.37 to 47.24). CONCLUSION: Mucociliary transport is a non-invasive screening test that can be performed even in infants. The sensitivity of the test is high but its specificity is low. A normal test result excludes PCD.

Adolescent↗
PubMed1992

Mucociliary function, ciliary ultrastructure, and ciliary orientation in Young's syndrome.

BACKGROUND: Mucociliary clearance is impaired in patients with Young's syndrome (obstructive azoospermia with recurrent sinobronchial disease), cystic fibrosis, and primary ciliary dyskinesia. No defect of cilia or mucus has been detected in Young's syndrome. METHODS: Ciliary function and ultrastructure, including ciliary orientation, were studied quantitatively in 20 patients with Young's syndrome and 20 normal subjects to determine the incidences of ciliary defects. Nasal ciliated epithelium was obtained from each subject and used for measurement of ciliary beat frequency and ultrastructural analyses. Ciliary orientation was determined by measuring ciliary deviation in electron micrographs; ciliary deviation is a measure of the relative orientation of cilia in relation to each other in which high values indicate ciliary disorientation. RESULTS: Ciliary beat frequency and the incidence of microtubular defects and numbers of dynein arms did not differ between patients with Young's syndrome and control subjects. In patients with Young's syndrome basal ciliary deviation (16.0 degrees) was similar to that in control subjects (14.1 degrees), but at the ciliary tip ciliary deviation (21.9 degrees) was greater than in healthy subjects (14.5 degrees). CONCLUSION: The relative disorientation of the distal ciliary axoneme in patients with Young's syndrome compared with normal subjects may be due to a structural defect but is more likely to be a consequence of abnormal mucus.

Adult↗
PubMed1993

Ciliary disorientation: a possible variant of primary ciliary dyskinesia.

Random ciliary orientation has recently been proposed as a variant of primary ciliary dyskinesia. We report a 12 year old boy with all the features of primary ciliary dyskinesia and absent nasal mucociliary clearance in whom repeated biopsies of the nasal epithelium showed normal ciliary beat frequency. The only abnormality discovered was disorientation of the central microtubules of his cilia.

Child↗
PubMed1994

Fertility in men with primary ciliary dyskinesia presenting with respiratory infection.

BACKGROUND: Primary ciliary dyskinesia is characterised by chronic rhinosinusitis, chronic bronchial sepsis (usually with bronchiectasis), dextrocardia in approximately 50% of cases, and male infertility. The latter, described in patients attending infertility clinics, results from immotile but viable spermatozoa. Experience in a respiratory clinic suggests that infertility in men is not invariable. METHODS: The seminal fluid of 12 men with primary ciliary dyskinesia, six with dextrocardia, who presented consecutively with upper and lower respiratory tract sepsis was examined. Nasal ciliary beating was dyskinetic or absent in all cases, and nasal ciliary ultrastructure was abnormal in those 11 patients examined. RESULTS: Viable but immotile spermatozoa with abnormal tail ultrastructure were found in the ejaculate of only two patients. Two other patients had apparently fathered children; seminology in both these cases showed a normal spermatozoa count, one with normal spermatozoal motility and normal ultrastructure, the other with moderately reduced spermatozoal motility and abnormal ultrastructure (dynein arm deficiency on the peripheral microtubule doublets). A further two patients had normal spermatozoa counts, normal spermatozoa tail ultrastructure, and normal or only moderately reduced motility of spermatozoa. The spermatozoa of one patient were normally motile but there was severe oligozoospermia, and five patients were azoospermic. CONCLUSIONS: Not all men with primary ciliary dyskinesia have immotile spermatozoa. Seminal analysis is recommended in men with primary ciliary dyskinesia so that accurate counselling about reproductive capability may be given.

Adolescent↗
PubMed1999

Primary ciliary dyskinesia in Newfoundland dogs.

Primary ciliary dyskinesia was diagnosed in three Newfoundland dogs with histories of chronic rhinitis and bronchopneumonia from an early age. Thoracic radiographs of two of them showed severe, dependent bronchopneumonia and right displacement of the cardiac apex but normal positioning of other organs. Histopathological examination of sections of lung from the other dog showed severe bronchopneumonia. A semen sample from one dog had a high percentage of spermatozoa with abnormal tails and poor progressive motility. Transmission electron microscopy of nasal brushings from all three dogs showed consistent ultrastructural defects in the cilia, including an absence of outer and inner dynein arms, disorganisation of peripheral doublets, occasional supernumerary doublets and singlets, and consistently disorganised basal bodies and foot processes; sections of trachea from one dog also had disorganised basal bodies. Pedigree analysis was consistent with a monogenic autosomal recessive pattern of inheritance for the defect. One dog is still alive, one dog died aged five years two months, and one dog was euthanased aged nine months. This is the first time primary ciliary dyskinesia has been reported in Newfoundland dogs.

Animals↗
PubMed1984

Ultrastructural, cellular, and clinical features of the immotile-cilia syndrome.

The immotile-cilia syndrome is an autosomal recessive disease of the microtubules of ciliated cells and spermatozoa, and possibly also of neutrophil leukocytes; it affects approximately 1 in 20,000 people. A variety of aberrations in the axonemal microtubular apparatus has been observed. The most common is deficiency of dynein-arms, which leads to immotility or erratic movement of spermatozoa and respiratory tract cilia. The result is male sterility, and chronic or recurrent respiratory tract infections and bronchiectasis due to absence of mucociliary clearance. In addition, 50% of the persons have situs inversus and hence Kartagener's syndrome.

Chronic Disease↗
PubMed1983

Duration of mucociliary dysfunction following antigen challenge.

Antigen-induced bronchospasm is associated with an impairment of airway mucociliary clearance, but the duration of this defect has not been examined. In the present study, we determined the time course of mucociliary dysfunction following inhalation challenge with Ascaris suum extract in conscious sheep with hypersensitivity to this antigen. Tracheal mucous velocity (TMV) as an index of mucociliary function, pulmonary resistance (RL), and arterial oxygen tension (Pao2) were measured prior to, immediately after, and serially for 8 h after inhalation challenge. TMV and Pao2 were then measured periodically for at least 2 wk. Immediately after A. suum challenge, mean RL increased to 264% of base line (P less than 0.05), and mean Pao2 decreased to 61% of base line (P less than 0.05). By 2 h postchallenge, mean RL and Pao2 had returned to base line but mean TMV had fallen to 61% of base line (P less than 0.05). Mean TMV reached a minimum of 35% of base line after 5 h (P less than 0.05) and remained significantly depressed between 37% and 54% of base line for 7 days; by day 9, mean TMV had returned to base line. Inhalation challenge with a control antigen (ragweed) failed to alter mean TMV, RL, and Pao2 during the first 8 h and TMV and Pao2 at any time throughout the 2-wk observation period.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed2000

No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD).

The transcription factor FOXJ1 (alias HFH-4 or FKHL13) of the winged-helix/forkhead family is expressed in cells with cilia or flagella, and seems to be involved in the regulation of axonemal structural proteins. The knockout mouse Foxj1(-/-) shows abnormalities of organ situs, consistent with random determination of left-right asymmetry, and a complete absence of cilia. The human FOXJ1 gene which maps to chromosome 17q, is thus an excellent candidate gene for Kartagener Syndrome (KS), a subphenotype of Primary Ciliary Dyskinesia (PCD), characterized by bronchiectasis, chronic sinusitis and situs inversus. We have collected samples from 61 PCD families, in 31 of which there are at least two affected individuals. Two families with complete aciliogenesis, and six families, in which the affected members have microsatellite alleles concordant for a locus on distal chromosome 17q, were screened for mutations in the two exons and intron-exon junctions of the FOXJ1 gene. No sequence abnormalities were observed in the DNAs of the affected individuals of the selected families. These results demonstrate that the FOXJ1 gene is not responsible for the PCD/KS phenotype in the families examined.

Alleles↗
PubMedDate not supplied

Ciliary beat frequency, olfaction and endoscopic sinus surgery.

We assessed prospectively changes in olfaction and ciliary beat frequency (CBF) after functional endoscopic sinus surgery (FESS) in 70 patients with chronic sinusitis. CBF was measured by the microscopic-photometry technique 2, 4 and 6 months after FESS. Olfaction was evaluated by the Erlangener Smell Identification Test. Preoperative CBF was markedly reduced due to the infectious process. CBF was significantly improved (p < 0.001), reaching normal values 6 months postoperatively despite the endoscopic examination revealing normal nasal mucosa at around 3 months. The pattern of improvement of CBF was linear being more rapid between months 4 and 6. After operation olfactory-impaired patients were improved subjectively and objectively (p < 0.001 and p = 0.003). We conclude that impaired olfactory ability and CBF are significantly improved after FESS, and FESS demands longer postoperative follow-up periods for at least 6 months even if the clinical evaluations were normal.

Adolescent↗
PubMed2000

Absence of central microtubules and transposition in the ciliary apparatus of three siblings.

We studied the cases of three siblings with a history of chronic bronchitis and infertility. The electron-microscopic investigation of the tracheal and bronchial biopsies showed a ciliary defect consisting in the absence of the central microtubules and the transposition of a peripheral doublet. This is a rare and infrequently reported abnormality included in the primary ciliary diskinesia syndrome.

Adult↗
PubMed2002

Identification of the human ortholog of the t-complex-encoded protein TCTE3 and evaluation as a candidate gene for primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) is a heterogeneous autosomal recessive disease that is caused by impaired ciliary and flagellar functions. About 50% of PCD patients show situs inversus, denoted as Kartagener syndrome. In most cases, axonemal defects in cilia and sperm tails can be demonstrated by electron microscopy, i.e. PCD patients often lack inner and/or outer dynein arms in their sperm tails and cilia, supporting the hypothesis that mutations in dynein genes may cause PCD. In order to identify novel PCD genes we have isolated the human ortholog of the murine TCTE3 gene. The human TCTE3 gene encodes a dynein light chain and shares high similarity to dynein light chains of other species. The TCTE3 gene is expressed in tissues containing cilia or flagella, it is composed of four exons and located on chromosome 6q25-->q27. To elucidate the role of TCTE3 as a candidate gene for PCD a mutational analysis of thirty-six PCD patients was performed. We detected five polymorphisms in the coding sequence and in the 5' UTR of the TCTE3 gene. In one patient a heterozygous nucleotide exchange was identified resulting in an arginine to isoleucine substitution at the amino acid level. However, this exchange was also detected in one control DNA. Our results indicate that mutations in the TCTE3 gene are not a main cause of primary ciliary dyskinesia.

Amino Acid Sequence↗