Upsala journal of medical sciences
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Primary ciliary dyskinesia (PCD) is an autosomal recessive disease with extensive genetic heterogeneity. Dyskinetic or completely absent motility of cilia predisposes to recurrent pulmonary and upper respiratory tract infections resulting in bronchiectasis. Also infections of the middle ear are common due to lack of ciliary movement in the Eustachian tube. ⋯ Transmission electron microscopy is the most commonly used method for diagnosis of PCD, even though alternative methods, such as determination of ciliary motility and measurement of exhaled nitric oxide (NO) may be considered. The best method to distinguish PCD from SCD is the determination of the number of inner and outer dynein arms, which can be carried out reliably on a limited number of ciliary cross-sections. There is also a significant difference in the ciliary orientation (determined by the direction of a line drawn through the central microtubule pair) between PCD and SCD, but there is some overlap in the values, making this parameter less suitable to distinguish PCD from SCD.
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Dislocation of the tibiotalar joint without associated fracture is rare. We present here a 21-year-old man who sustained open posteromedial dislocation of the left ankle without malleolar facture when he jumped and sprained his right ankle while playing basketball. The most likely mechanism is forced flexion applied to the ankle joint leading to a rupture of the anterior capsule and lateral structures of the ankle followed by an accelerating inversion stress leading to a posteromedial dislocation of the talus from the tibial condyle. ⋯ The treatment consisted of wound irrigation, debridement, reduction and capsular suture followed by immobilization with a short leg cast. About 10 degrees of loss in the range of dorsiflexion was observed. The patient achieved good long-term functional results.