UNLABELLED: Primary ciliary dyskinesia (PCD) is a heterogeneous disease with impaired mucociliary transport leading to respiratory disorders, hearing impairment and male infertility. PCD can be diagnosed by clinical features together with functional and structural analysis of the cilia. To prevent bronchiectasis with a marked reduction in quality of life, early diagnosis is essential. The rarity of PCD and the costs of ultrastructural analysis of cilia require a rational diagnostic concept. We therefore reviewed the literature and compared clinical manifestations as well as functional and structural analyses of the cilia in 28 patients (23 children, 5 adults) investigated between 1990 and 1998. All were thoroughly examined for other possible diseases before biopsy, and ten patients (35.7%; eight children, two adults) were diagnosed as having PCD. From the literature review and our findings we conclude that ciliary investigation is indicated (a) in patients who remain suspected of having PCD despite thorough clinical examination and exclusion of other disorders such as cystic fibrosis, allergy, immunologic disorders and alpha1-antitrypsin deficiency; (b) in patients with situs inversus suffering from chronic and/or recurrent airway infections; and (c) in patients with neonatal respiratory distress syndrome of "unknown" cause (i.e. after exclusion of hyaline membrane disease, aspiration syndromes, neonatal pneumonia, and pneumothorax as well as cardiovascular and metabolic diseases). CONCLUSION: The combination of extensive clinical examination with functional and ultrastructural analysis of the cilia results in a high degree of accuracy in diagnosing PCD.

Adult↗

PubMedDate not supplied

Human Reissner's membrane in patients with age-related normal hearing and with sensorineural hearing loss.

Morphological features of Reissner's membrane were investigated in 6 patients with age-related normal hearing (ARNH) and in 4 with sensorineural hearing loss (SNHL) stemming from various causes. The membrane consisted of an epithelium, a basement membrane and a mesothelium with melanocytes. There were two major forms of epithelial cells: flat and rounded. In all specimens, the rounded cells formed whorls, clusters, strands and bands. The bands were wider and the whorls larger in the basal turn and decreased gradually in size toward the apex. The number of melanocytes was 2-4 times higher in both the upper half of the basal turn and the lower half of the middle turn than in the rest of the turns. In specimens from patients with SNHL, whorls and clusters were both more numerous and larger, and the number of melanocytes was higher in the upper half of the middle turn and in the apical turn than that in the ARNH group. Ultrastructural examination of epithelial and mesothelial cells as well as of melanocytes showed more pronounced cellular degeneration in patients with SNHL than in those with ARNH. A possible correlation between structural alterations of Reissner's membrane and sensorineural degeneration is discussed.

Aged↗

PubMedDate not supplied

Intracellular study of substance P in human Scarpa's ganglion cells.

The effect of substance P on surgically removed human Scarpa's ganglion cells was investigated by intracellular recordings and bath application under in vitro conditions. The neuropeptide produced a slow depolarization of the membrane potential which was accompanied by an increase in membrane resistance. Furthermore, an enhanced firing in response to depolarization occurred. The results strongly support a modulatory action of the neuroactive peptide substance P on human Scarpa's ganglion cells.

Cells, Cultured↗

PubMedDate not supplied

Substance P in the auditory hair cells in the guinea pig.

Previous immunohistochemical and electrophysiological studies on various neurotransmitters revealed the tachykinin substance P (SP) as a neuromodulator in the auditory system of mammals. This study was performed in order to determine the immunohistochemical expression and distribution pattern of SP in the organ of Corti, especially in the inner (IHC) and outer hair cell (OHC) region of the guinea pig. We examined the immunoreactivity of SP of surface preparations by means of a fluorescence and a laser scanning microscope. The electrophysiological action of SP, N-methyl-D-aspartate (NMDA) and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) were recorded at the subsynaptic afferent region of the IHCs using micro-iontophoretic techniques. The SP-like immunostaining could be detected at the basal and apical pole of the IHCs with a gradient distribution pattern from the basal to the apical turn. Furthermore, we could demonstrate SP-like immunoreactivity in OHCs with different occurrence in turns as well as in rows. Electrical activity was induced by applying SP, NMDA and AMPA perisynaptically to the IHCs. The selective SP antagonist spantide (D-Arg1, D-Trp7,9, Leu11-substance P) specifically blocked the SP-induced activity but without altering the activity of NMDA and AMPA. In contrast, specific NMDA or AMPA antagonists reversibly blocked either the NMDA- or AMPA-induced responses without affecting the SP-induced activity. These immunohistochemical and electrophysiological results confirm that SP may represent a neuromodulator function at the synapses of the IHCs in the guinea pig.

Animals↗