suffered severe deterioration of vision before being discovered. Even when patients are originally thought to have escaped ophthalmic complications, unsuspected glaucoma may yet be present with slowly advancing loss of sight. Every patient with facial naevus should have regular ophthalmic supervision.
Vitamin D deficiency was very common in the 2 SSc populations, independent of geographic origin and vitamin D supplementation. This suggests that common vitamin D supplementation does not correct the deficiency in SSc patients, and that a higher dose is probably needed, especially in those with high inflammatory activity or severe disease.
Cilia have multiple functions including olfaction. We hypothesised that olfactory function could be impaired in primary ciliary dyskinesia (PCD). Olfaction, nasal nitric oxide (nNO) and sinus CT were assessed in patients with PCD and non-PCD sinus disease, and healthy controls (no CT scan). PCD and non-PCD patients had similar severity of sinus disease. Despite this, defective olfaction was more common in patients with PCD (P<0.0001) and more severe in patients with PCD with major Transmission Electron Microscopy (TEM) abnormalities. Only in classical PCD did olfaction inversely correlate with sinusitis and nNO. We speculate that defective olfaction in PCD is primary in nature.
There is considerable variability in the severity and progression of lung disease in primary ciliary dyskinesia (PCD). 1-3 Few studies have related progression of lung function to the underlying ultrastructural defect. 4,5 We investigated the age-related evolution of spirometry to identify associations between ultrastructural defects, gene mutations, BMI, 6 and bacterial airway infections in a longitudinal study of adult and pediatric patients with PCD.
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