Abstract Purpose Usher syndrome is a ciliopathy involving photoreceptors and cochlear hair cells (sensory cilia): since sensory and motor ciliopathies can overlap, we analysed the respiratory cilia ...(motile) in 17 patients affected by Usher syndrome and 18 healthy control subject. Patients and methods We studied the mucociliary transport time with the saccharine test, ciliary motility and ultrastructure of respiratory cilia obtained by nasal brushing; we also recorded the classical respiratory function values by spirometry. Results All enrolled subjects showed normal respiratory function values. The mean mucociliary transport time with saccharine was 22.33 ± 17.96 min, which is in the range of normal values. The mean ciliary beat frequency of all subjects was 8.81 ± 2.18 Hz, which is a value approaching the lower physiological limit. None of the classical ciliary alterations characterizing the “ciliary primary dyskinesia” was detected, although two patients showed alterations in number and arrangement of peripheral microtubules and one patient had abnormal ciliary roots. Conclusions Respiratory cilia in Usher patients don’t seem to have evident ultrastructural alterations, as expected, but the fact that the ciliary motility appeared slightly reduced could emphasize that a rigid distinction between sensory and motor ciliopathies may not reflect what really occurs.
With the improved life expectation of β -thalassemia major patients, new clinical problems, such as hearing damage, must be evaluated. Fifty-seven patients (32 F, 25 M; age range 17–32 years) have ...been studied to define risk factors for development of sensorineural hearing loss. All patients with β -thalassemia major received daily chelation therapy with subcutaneous injection of desferrioxamine (30–50mgkg−1 per day). We performed an otological visit and pure tone audiometry as well as impedance; patients were followed for 3 years. Four patients with a conductive hearing loss were excluded; 66.6% had a normal audiogram; 22.8% had a slight sensorineural deficit ( ≤35 dB HL) with high frequency losses; only two patients (3.5%) had a moderate deficit (between 35 and 75 dB HL). In normal subjects ABR recording gave normal values. There was no association between age, ferritin level, therapeutic index (T.I.) and hearing loss. We conclude that no significant difference exists between β -thalassemic patients and non-thalassemic subjects of the same age; desferrioxamine treatment seem to be non-ototoxic when employed at the present dosages, but the ototoxicity is probably related to individual susceptibility that is unforeseeable; in any case, the risk of ototoxicity seems to be much less than the benefits which derive from the use of this drug.
The survival of patients with beta-thalassemia major and intermedia has improved considerably. This has focused attention on the long-term sequelae of the disease itself and its treatment. The effect ...of hemosiderosis in major organs (heart, liver, etc) are well-recognized, but the pathophysiology of any lung damage is less clearly understood. We studied lung function changes in 32 patients with beta-thalassemia.
Respiratory function tests, CO diffusion and arterial blood gas analysis were performed on 19 patients with beta-thalassemia major (9 F, 10 M) and 13 with beta-thalassemia intermedia (6 M, 7 F). All investigations were performed 24 hours before the patients received a blood transfusion or when they were in a stable state hematologic condition. Echocardiography was performed in all patients and the ejection fraction was employed as a measure of cardiac function.
No patient had clinical signs of pulmonary dysfunction. Pulmonary function tests, however, showed a reduction of all main parameters (TLC, FVC, FEV1 and RV) in most patients with beta-thalassemia major, indicating a restrictive type of dysfunction. The pulmonary function of patients with beta-thalassemia intermedia seemed to be preserved. Arterial blood gas values were within the normal range, while in some subjects CO diffusion approached the lower limits of normality. There was no evidence that the observed abnormalities in pulmonary function were secondary to congestive heart failure.
Iron deposition due to repeated blood transfusions may play a central role in determining lung alterations although the majority of patients are well chelated, suggesting that more than one causal mechanisms could be involved.
