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Patients with primary ciliary dyskinesia (PCD) have structural and/or functional alterations of cilia that imply deficits in mucociliary clearance and different respiratory pathologies. A useful indicator for the difficult diagnosis is the ciliary beat frequency (CBF) that is significantly lower in
Primary ciliary dyskinesia (PCD) presents to general practitioners with symptoms pertinent to a variety of specialists because of the involvement of ciliated epithelium in the upper/lower respiratory tract, ears, eyes and genital tract. There is no easy, reliable screening test for PCD, and thus,
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.
METHODS
Retrospective study. Postoperative follow-up of 26.3 months in the type 1 tympanoplasty group and 46
Cilia from the nasal cavity of 27 patients with congenital ciliary dyskinesia (immotile cilia syndrome) and of 15 normal persons were examined by transmission electron microscopy. The patients had on average a significantly higher number of cilia with absent or markedly reduced numbers of outer or
The middle ear cavity and the eustachian tube contain a well-functioning mucociliary clearance system. To learn more about the importance of this mucociliary clearance, we studied patients with primary ciliary dyskinesia, in whom mucociliary clearance is absent. Thirty-six patients were investigated
BACKGROUND
A correlation exists between the microbial flora of the upper and lower airways in patients with cystic fibrosis (CF) or with primary ciliary dyskinesia (PCD). The sinuses can function as a bacterial reservoir where gram-negative bacteria adapt to the airways and repeatedly are aspirated
The possible role of cholinergic mechanisms in the sub-commissural part of the globus pallidus (scGP) in the induction of oro-facial dyskinesia (OFD) was studied in cats. Local injections of the cholinergic agonist carbachol into the scGP elicited tongue protrusions in a dose dependent way (100-1000
Forty-two subjects, 20 with and 22 without clinically diagnosed tardive dyskinesia (TD), were rated for TD on the scale of Simpson et al. They also performed a tongue protrusion test and had the presence of tongue movements within the buccal cavity observed. Fifty per cent of the severe or definite
This article reports a rare observation of the development of chronic polypous pansinusitis with deformation of the external nose in a 8 year-old child presenting with primary ciliary dyskinesia syndrome. The patient underwent multiple surgical interventions in the preceding period. The key argument
Background: Primary ciliary dyskinesia (PCD) is a genetically diverse disease which causes impaired mucociliary clearance, and results in pulmonary, otologic, and rhinologic disease in affected patients. Genetic mutations in multiple
Edentulousness, by disrupting trigeminal propioceptive input from the oral cavity to the basal ganglia, may increase the risk for neuroleptic-induced orofacial dyskinesia. Since lesions of the globus pallidus alter trigeminal sensory-induced reflexive neck muscle activity in rats and the
Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disease caused by mutations in over 40 different genes. Individuals with PCD caused by mutations in RSPH1 (radial spoke head 1 homolog) have been reported to have a milder phenotype than other individuals with
Primary ciliary dyskinesia (PCD) results from ciliary dysfunction and is commonly characterized by sinusitis, male infertility, hydrocephalus, and situs inversus. Mice homozygous for the nm1054 mutation develop phenotypes associated with PCD. On certain genetic backgrounds, homozygous mutants die
Different groups worldwide have observed in recent years that stereotactic implantation of fetal tissue can ameliorate the clinical symptoms of Parkinson's disease. The authors therefore investigated whether implantation of fetal ventral mesencephalic (FVM) tissue via open surgery is also capable of
The middle ear conducts sound to the cochlea for hearing. Otitis media (OM) is the most common illness in childhood. Moreover, chronic OM with effusion (COME) is the leading cause of conductive hearing loss. Clinically, COME is highly associated with Primary Ciliary Dyskinesia, implicating