Acute isolated dislocation of the distal radial ulnar joint - ulnar volar with no other associated lesion: Case report and review of the literature.

Isolated dislocation of the distal radioulnar joint is a rare phenomenon with few described cases in the literature for which the management is not well established. We report here a case of distal radioulnar joint dislocation - ulnar volar. The patient is a 58-year-old woman who fell on an extended upper extremity with forced supination. The patient was treated non-surgically with closed reduction and immobilization followed by physical and ergonomic therapy. During treatment MRI imaging was performed which showed no lesion to the TFCC. Following immobilization, the patient had good mobility of the forearm and the wrist. Early diagnosis, treatment, and imaging allowed for excellent functional recovery without surgical treatment.

F8 gene mutation profile and ITT response in a cohort of Italian haemophilia A patients with inhibitors.

Anti factor VIII (FVIII) antibodies represent the main complication of replacement therapy in severe cases of haemophilia and most patients with inhibitor have gross gene rearrangements or point mutations that hamper the production of normal circulating FVIII. In this study we have investigated 82 haemophilia A patients with inhibitors. Seventy six were severe, three were moderate and three were mild. We screened the patients for the causative mutations using long range PCR for the recurrent intron 22 inversion (invint22), multiplex PCR for intron 1 inversion (invint1) and conformation sensitive gel electrophoresis followed by DNA sequencing for all other mutation types in the F8 gene. Diverse genetic defects were detected in the severe cases (with a predominance of severe molecular defects): F8 gene inversions, large deletions and non-sense mutations account for 71% of the mutations. Only missense and splicing mutations were identified in the non-severe patients and we confirmed that the presence of inhibitors correlates well with the presence of severe mutations, but a proportion of severe patients develops inhibitors despite the presence of diverse less severe mutations. When we have analysed the subgroup of patients who underwent immunetolerance, we have found that F8 gene large deletions are likely to be a high risk factor also for immunetolerance therapy unresponsiveness, while no clear evidence has been demonstrated for other mutation types.