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At least 109 records · Page 6Linked to original sources
PubMed1998

Results of tympanoplasty in children with primary ciliary dyskinesia.

OBJECTIVE: To assess the results of tympanoplasty in children with primary ciliary dyskinesia complicated by tympanic perforation or cholesteatoma with hearing loss and/or recurrent otorrhea. DESIGN: Retrospective study. Postoperative follow-up of 26.3 months in the type 1 tympanoplasty group and 46 months in the child with cholesteatoma. SETTING: Hospitalized care, referral center. PATIENTS: Seven children with primary ciliary dyskinesia, complicated in 6 children by 9 tympanic perforations (3 bilateral perforations) and in 1 child by an attical cholesteatoma. RESULTS: After 9 type 1 tympanoplasties, the grafts were intact in 9 ears, with no recurrence of otorrhea, but serous otitis media was present in 6 of the 9 ears. Auditory improvement was significant, with an average gain of 17-dB hearing level in speech frequencies. After a canal wall-down tympanoplasty with mastoidectomy for attic cholesteatoma in 1 ear, the cavity that was operated on showed no signs of otorrhea or residual cholesteatoma after a follow-up of 46 months. CONCLUSION: In children with primary ciliary dyskinesia, tympanoplasty has a high probability of graft success and auditory improvement, despite the frequent recurrence of serous otitis media.

Adolescent↗
PubMed1999

Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormal ciliary structure and function, impaired mucociliary clearance, and chronic middle ear, sinus, and lung disease. PCD is associated with situs inversus in approximately 50% of the patients. One proposed explanation for this relationship is that normal ciliary function plays a role in normal organ orientation, whereas organ orientation in PCD is a random event because of dysfunctional cilia in early embryonic development. Another hypothesis for the association between PCD and situs inversus is that mutated genes in PCD not only cause defective cilia, but are also linked to the control of organ laterality, such that abnormalities in this molecular pathway result in random left-right asymmetry. We report on a set of monozygotic twin women with PCD. In both patients, deficiency of the inner dynein arms was noted on ciliary ultrastructural analysis, associated with a clinical syndrome of bronchiectasis, chronic sinusitis, and middle ear disease. One of the twins has situs solitus, the other has situs inversus totalis. DNA analysis confirmed that the twins are monozygotic. This is consistent with the hypothesis that situs inversus occurring in patients with primary ciliary dyskinesia is a random but "complete" event in the fetal development of patients with PCD.

Adult↗
PubMed2000

Primary ciliary dyskinesia (PCD).

This article summarizes the current state of the scientific and clinical knowledge that relates to primary ciliary dyskinesia (PCD). Although PCD is a rare disease with a prevalence of 1 in 20,000 it has a well recognized morbidity. It is believed that an accurate diagnosis and the application of appropriate management can significantly reduce this morbidity. The cilia themselves are highly complicated organelles that perform important functions, particularly in the respiratory and reproductive tracts, and they have been the focus of many years of research. Our current knowledge of ciliary function and mucociliary clearance is summarized, and the relationship with laterality defects is discussed. A phenotype resembling PCD is also seen in animal models, and some of these are described before reviewing the clinical aspects of PCD in humans and new developments in the field that may have implications for the future investigation and management of affected individuals.

Animals↗
PubMed1986

Genetic aspects of immotile cilia syndrome.

The genetics of the immotile cilia syndrome has been analyzed in a series of 46 affected individuals from 38 families. Both sexes were equally affected: there were 20 males and 26 females in this series. All patients had upper and lower respiratory disease with chronic sinusitis, otitis, and chronic cough from early childhood. Bronchiectasis was common in older children and adults. Situs inversus occurred randomly, affecting 11 males and 15 females. Biopsies of nasal and bronchial mucosa from these subjects have been investigated by electron microscopy and identified as having specific ultrastructural defects of respiratory tract cilia including deficiencies in outer dynein arms (19), inner dynein arms (3), both inner and outer dynein arms (15), radial spoke defect (5); and microtubular transposition anomaly (4). Segregation analysis of proband sibships was consistent with autosomal recessive inheritance. However, the different ultrastructural defects that underly the immotile cilia syndrome involve presumably different genetic determinants, and the different types have not been analyzed separately. Examination of paternal age and birth order gave no evidence of new autosomal dominant mutation in the series.

Ciliary Motility Disorders↗
PubMed1989

Familial immotile-cilia syndrome in English springer spaniel dogs.

A laboratory-maintained colony of English springer spaniel dogs heterozygous for a putative autosomal recessive immotile-cilia syndrome (ICS) has been studied. Matings between dogs thought to be heterozygous for ICS resulted in 22 pups, five (three males and two females) of which were homozygous for ICS. Four of the five ICS-affected dogs had chronic rhinitis and bronchopneumonia. The other dog had a serious nasal discharge and died at 10 days. Four dogs had situs inversus totalis (kartagener syndrome), and the two males of reproductive age were azoospermic. In the two ICS dogs studied for ciliary function, in vivo mucociliary clearance was absent, and in vitro ciliary beat was rarely observed and of low frequency. Scanning and transmission electron microscopy disclosed the same lesions in respiratory cilia from all dogs with ICS, including random orientation and partial outer dynein arm deficiency. Four of five dogs with ICS had dilated lateral ventricles. One female pup with neonatal rhinitis and bronchopneumonia, situs solitus, and dilated lateral ventricles was presumed to be homozygous for ICS, but died without functional or structural confirmation of defective respiratory cilia. An autosomal recessive mode of inheritance for the ciliary defects and respiratory signs of ICS in these dogs is proposed.

Animals↗
PubMed1989

Immotile cilia syndrome including polysplenia, situs inversus, and extrahepatic biliary atresia.

Here we report on 2 sibs with immotile cilia syndrome (ICS), born to consanguineous Arab parents. Both had the Kartagener triad. In addition, one sib had polysplenia and extrahepatic biliary atresia. This observation, together with other literature reports, suggests that the occurrence of ICS with polysplenia and extrahepatic biliary atresia represent the result of a single dysmorphogenetic process. It is concluded that polysplenia and extrahepatic biliary atresia are rare and unusual manifestations of ICS.

Biliary Atresia↗
PubMed2004

Cilia-related diseases.

There are at least eight categories of cilia in the human body and malfunctioning of any one or several of them will have different consequences for the patient. A genetic error of the respiratory cilia (9 + 2) is the cause of the airways disease named immotile-cilia syndrome (or PCD), whereas defective ependymal cilia (9 + 2) carries an increased risk of hydrocephalus. When the so-called nodal cilia (9 + 0) of the early embryo are malfunctioning, there is a random determination of asymmetry of the heart and visceral organs ('a 50% risk of situs inversus'). Some genes are responsible for the synthesis, transport, and assembly of the cilia, and mutations in these genes may lead to progressive degeneration of ciliary structures, such as the connecting cilium (9 + 0) of the photoreceptor cells-this is the cause of retinitis pigmentosa. Ciliary malfunctions due to genetic errors tend to be systemic and life-long, whereas acquired diseases are local and may be temporary only.

Cilia↗
PubMedDate not supplied

The effect of systemic hydration on normal and impaired mucociliary function.

Whether systemic hydration enhances the clearance of lower airway secretions in normal lungs and in lungs during antigen-induced bronchial obstruction was studied. In five conscious allergic sheep, tracheal mucus velocity (TMV) as an index of lower airway mucociliary clearance was measured before and serially for 60 minutes following intravenous infusion of 5% dextrose solution at volumes ranging from 5 to 35 ml/kg. None of these fluid regimens had a significant effect on TMV, although there was a tendency toward a slowing of TMV at the higher volumes of 25 and 35 ml/kg. After producing an acute allergic airway response by inhalation challenge with specific antigen, there was a decrease in mean TMV by 27% and 15% before sham infusion and infusion of 35 ml/kg of dextrose solution, respectively. During the subsequent 60-minute observation period, mucociliary transport was further impaired by dextrose infusion, with mean TMV being lower after dextrose infusion than after sham infusion at all times of measurement (P less than 0.05). The lowest value was reached 30 minutes after dextrose infusion (45% of control). It was concluded that systemic hydration does not significantly alter airway mucociliary transport in the normal state but further impairs mucociliary transport during allergic mucociliary dysfunction. This raises questions regarding the therapeutic role of systemic hydration in the treatment of children and adults who have bronchial asthma.

Animals↗
PubMed1988

The saccharin method for testing mucociliary function in patients suspected of having primary ciliary dyskinesia.

In order to evaluate the clinical value of the saccharin test as a practical and simple measure of mucociliary clearance, nasal mucociliary clearance (NMCC) and ciliary ultrastructure were studied in 22 patients suspected of having primary ciliary dyskinesia (PCD) based on the saccharin test. Ten patients fulfilling the diagnostic criteria of PCD had a pathological response to the saccharin test (transport time greater than 60 minutes), and this was consistently associated with ultrastructural defects, specific for PCD. These results validate the suitability of the clinical use of the saccharin test as a screening procedure for NMCC. The false-negative results obtained in three cases of PCD, all with borderline values, cannot be ascribed to ineffectiveness of the test, but rather to the persistence of some motility by certain defective cilia, detectable by microphoto-oscillographic investigation of specimens obtained by nasal biopsy or brushing.

Adolescent↗
PubMed1991

Ultrastructural ciliary defects in children with recurrent infections of the lower respiratory tract.

One hundred fifty-four children with recurrent or chronic infections of the lower respiratory tract compatible with the diagnosis of primary ciliary dyskinesia (PCD) were evaluated for the presence of ultrastructural ciliary abnormalities. Studies were performed on multiple samples of respiratory mucosa obtained by nasal and bronchial brushing. Twenty-eight children showed ultrastructural ciliary defects compatible with the diagnosis of PCD: Twenty-four presented dynein arm deficiency (either as isolated defect or in association with microtubular abnormalities), two had ciliary aplasia, and two showed microtubular abnormalities. Eleven patients with PCD had situs viscerum inversus, bronchiectasis, and chronic sinusitis (Kartagener's syndrome); one child with Kartagener's syndrome had normal ciliary structure. The appearance of respiratory symptoms within the first month of life, the colonization by Haemophilus influenzae, and a history of recurrent rhinitis and otitis were characteristically present in children with PCD. The clinical status of those patients who reached adolescence was, in our experience, remarkably good. An early diagnosis with adequate prevention and therapy of respiratory infections may have an important role in minimizing irreversible lung damage.

Adolescent↗
PubMed1993

New associations of primary ciliary dyskinesia syndrome.

Ten of 32 patients with primary ciliary dyskinesia syndrome (PCDS) also had other conditions. Five esophageal problems, 4 congenital heart disease, 2 scoliosis, and 4 miscellaneous and probably coincidental conditions were discovered. Additionally, a patient in this series, who has a normal heart, had a brother who died after surgery for complex congenital heart disease. In retrospect, he too probably had PCDS. The association of severe esophageal and cardiac disease with primary ciliary dyskinesia has not been described before. The diagnosis of PCDS may carry more implications than previously recognized.

Adolescent↗
PubMed1993

An isotopic study of nasal mucociliary transport in newborns: preliminary investigation.

The diagnosis of primary ciliary dyskinesia (PCD) depends on electron microscopic examination of cilia obtained from mucosal biopsies of the nasal turbinates or the trachea. This is an invasive, time-consuming, and expensive technique. The low incidence of this abnormality, the large number of infants and children with suggestive symptoms, and the lack of a reliable screening test make the decision to proceed with diagnostic biopsy a common problem in recurrent or chronic respiratory pediatric conditions. To improve this situation early in infancy, nasal mucociliary transport was evaluated in 10 normal newborns using the Tc-99m-labeled seroalbumin technique, and the results obtained were compared with those corresponding to a newborn with Kartagener's syndrome. Transport velocity in normal newborns was similar to that observed in older children and in adults, in contrast to the tracer immobility seen in the affected newborn. This technique is simple, safe, objective, and well tolerated in this age group and might be used as an early screening test to ruling out PCD.

Ciliary Motility Disorders↗