Multiple pacemaker lead breakages due to clavicle dislocation following clavicle fracture

A 58-year-old man undergoing cardiac resynchronization therapy with a defibrillator in his right subcostal area fell from his bed, leading to fracture of the right clavicle. Serial radiographs showed dislocation of the distal clavicle 2 months after the initial fracture. Lead parameters dramatically changed after dislocation of the distal clavicle. Radiography indicated that the device leads seemed to be compressed by the distal clavicle in certain positions of the right upper limb. It was likely that various movements of the right upper limb during his daily life insidiously damaged the device leads, leading to the lead breakages

Novel Mutations in Norrie Disease Gene in Japanese Patients with Norrie Disease and Familial Exudative Vitreoretinopathy

PURPOSE. To search for mutations in the Norrie disease gene (NDP) in Japanese patients with familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) and to delineate the mutation-associated clinical features. METHODS. Direct sequencing after polymerase chain reaction of all exons of the NDP gene was performed on blood collected from 62 probands (31 familial and 31 simplex) with FEVR, from 3 probands with ND, and from some of their family members. The clinical symptoms and signs in the patients with mutations were assessed. X-inactivation in the female carriers was examined in three FEVR families by using leukocyte DNA. RESULTS. Four novel mutations-I18K, K54N, R115L, and IVS2-1G3 A-and one reported mutation, R97P, in the NDP gene were identified in six families. The severity of vitreoretinopathy varied among these patients. Three probands with either K54N or R115L had typical features of FEVR, whereas the proband with R97P had those of ND. Families with IVS2-1G3 A exhibited either ND or FEVR characteristics. A proband with I18K presented with significant phenotypic heterogeneity between the two eyes. In addition, affected female carriers in a family harboring the K54N mutation presented with different degrees of vascular abnormalities in the periphery of the retina. X-inactivation profiles indicated that the skewing was not significantly different between affected and unaffected women. CONCLUSIONS. These observations indicate that mutations of the NDP gene can cause ND and 6% of FEVR cases in the Japanese population. The X-inactivation assay with leukocytes may not be predictive of the presence of a mutation in affected female carriers. (Invest Ophthalmol Vis Sci