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Results for “Ciliary Motility Disorders”

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At least 19 recordsLinked to original sources
PubMed1990

[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↗
PubMed1985

Recurrent respiratory disease, azoospermia, and nasal polyposis. A syndrome that mimics cystic fibrosis and immotile cilia syndrome.

Three adult men with chronic sinopulmonary disease, nasal polyposis, and azoospermia were studied. All had normal sweat chloride values and pancreatic function. The azoospermia was due to a block in the epididymis that was distinguishable from the defect in the vas deferens seen in cystic fibrosis. Cilia structure was normal in sperm tails from testicular biopsy specimens and in cilia from tracheal biopsy specimens. These cases represent a clinical entity distinct from cystic fibrosis and known immotile cilia disorders.

Adult↗
PubMed1992

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↗
PubMed1990

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↗
PubMed1990

[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↗
PubMed1989

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↗
PubMed2026

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↗
PubMed1988

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↗
PubMed1989

[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↗
PubMed1985

Recurrent bacterial pneumonia: a contemporary perspective.

Numerous clinical disorders predispose to "recurrent bacterial pneumonia." Identification and treatment of some of these predisposing conditions will reduce associated morbidity, mortality, and health care expenditures. In young adults these disorders include cystic fibrosis, the immotile-cilia syndrome, Young's syndrome, pulmonary sequestration, and bronchiectasis. Disorders enhancing recurrent bacterial pneumonia in older adults include chronic obstructive lung disease, bronchial obstruction, specific malignancies, hypogammaglobulinemia, alcoholism, neurologic diseases, and esophageal abnormalities.

Adolescent↗
PubMedDate not supplied

Mucociliary dysfunction in experimental otitis media with effusion.

To investigate the morphologic changes of the eustachian tube mucociliary transport systems, experimental otitis media with effusion was induced by immune complex injection into the bullae of experimental animals. Horseradish peroxidase was chosen as an antigen because of its high antigenicity and traceability under light and electron microscopy. Seventy-three guinea pigs and 41 chinchillas were divided into three groups: active Arthus group, passive Arthus group, and control group. Animals were killed under general anesthesia from the first to 30th day after the injection. Within 5 days after injection, effusions were observed consistently in all animals, but in only 80 per cent on the 7th day and in only 50 per cent after the 10th day after injection. The most conspicuous findings were that the interciliary space of the mucociliary system was diffusely occupied by an electron-dense mucus, and the upper part of the ciliary shafts were tightly glued together. These features seem to indicate rheologic alterations of the mucus and a disorder of its coupling to the cilia. This study strongly suggests that the mucociliary coupling disorder caused by altered rheologic properties of the mucus causes clearance dysfunction of the eustachian tube, resulting in middle ear effusion. The various inflammatory products contained in the middle ear effusions elicit a persistent vicious cycle of inflammatory reactions in the tubotympanum.

Animals↗
PubMed1991

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↗
PubMed1986

Neonatal diagnosis of the immotile cilia syndrome.

The immotile cilia syndrome is an inherited disorder characterized by inappropriate motility of the cilia. The clinical symptoms include recurrent sinopulmonary infections and reduced fertility. In about half of the cases, situs inversus is encountered. The case presented is of a two-day-old boy in whom diagnosis was based on ultrastructural abnormalities. Early diagnosis permitted immediate symptomatic treatment and an absence of infections during a 37-month period of observation. Nasal biopsies performed in six newborns with various degrees of respiratory distress secondary to classic neonatal respiratory problems and in a healthy one-day-old newborn demonstrated the presence of normal ciliary structures at birth. In cases without situs inversus, diagnosis of the immotile cilia syndrome may be difficult. The importance of early diagnosis and management is stressed; the ultrastructural abnormalities are present at birth in newborns with the immotile cilia syndrome.

Biopsy↗