MATERIALS AND METHODS: We studied a kindred of familial focal epilepsy with variable foci using whole-exome sequencing. We subsequently studied a cohort of 293 patients with focal epilepsy and sequenced all exons of DEPDC5 using targeted resequencing.
RESULTS: We reported a Taiwanese family with a novel splice site mutation which affected mRNA splicing and activated the downstream mammalian target of rapamycin (mTOR) pathway. Among patients with focal epilepsies, the majority (220/293) of these patients had sporadic focal epilepsy without malformation of cortical development. Two (0.9%) of these patients had probably pathogenic mutations in the DEPDC5 gene.
DISCUSSION AND CONCLUSIONS: Our finding suggests that DEPDC5 is not only the most common gene for familial focal epilepsy but also could be a significant gene for sporadic focal epilepsy. Since focal epilepsies account for more than 60% of all epilepsies, the effect of mTORC1 inhibitor on patients with focal epilepsy due to DEPDC5 mutations will be an important future direction of research.
Materials and Methods: Forty eight hips with the conversion of bipolar HA to THA were followed up for an average 6.2 years (range 2.0-11.5 years). Twenty one hips had conversion surgery to THA using metal-on-metal articulation (28 or 32 mm head). Nine hips used ceramic-on-ceramic (28-40 mm) and eighteen hips used large head metal-on-metal bearing (>40 mm). Outcome was evaluated using Harris Hip Score (HHS) and Western Ontario McMaster Universities Osteoarthritis Index (WOMAC) score. The radiographs were analyzed for evidence of osteolysis and/or loosening. The complications were evaluated, especially dislocation with different femoral head diameter.
Results: Average HHS significantly improved from 42 preoperatively to 86 postoperatively and the average WOMAC score also significantly improved from 47 to 22 postoperatively. Radiological evaluation showed all the femoral components were stable. There was one acetabular component loosening, which required revision 9 years after conversion to THA. One dislocation and one recurrent dislocation were recorded in isolated acetabular revision hip; whereas one dislocation, one recurrent dislocation, and one trochanteric nonunion occurred in the hips with revision of both components. All dislocations occurred in hips with a femoral head size of 28 mm (P = 0.052). The cup and femoral head interval length was the most significant factor contributing to dislocation (P = 0.013).
Conclusions: Conversion THA after failed bipolar HA offers a reliable pain relief and functional improvement. To prevent dislocation, it is highly recommended to use a larger diameter femoral head, especially where the cup size is big.