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.
METHODS: It was a retrospective study carried out in a Level 1 arthroplasty and trauma centre. 23 patients (17 males, 6 females) with average age of 50.1 years (range, 36-68 years) with displaced acetabular fracture treated with combined incisions and plate-cable systems were included. There were 3 elementary and 18 associated fractures according to Letournel classification. Average follow-up was 23.5 months (range, 12-38.7 months). Mean operation time was 160min (range: 75-320min). Functional scores were evaluated using Harris Hip Score (HHS) whilst reduction was assessed by Matta criteria. Any displacement of reduction, osteoarthritis, heterotopic ossification, and other complications was recorded.
RESULT: 65.2% (15/23) of the patients obtained excellent HHS and 21.7% (5/23) had good HHS. There were 12 anatomical, 6 imperfect, and 5 poor reductions. No displacement was recorded in final follow-up. Complications documented: three lateral femoral cutaneous nerve injuries, two conversions to total hip arthroplasty, three Brooker stage 1 heterotrophic ossification, one pulmonary embolism and one screw irritation. No incidence of wound breakdown, infection and radiological osteoarthritis was reported.
CONCLUSIONS: Imperfect reduction of the anterior column provided clinical outcomes that are as good as total anatomical reduction. This approach minimizes soft tissue damage and reduces perioperative morbidities.
METHOD: Guidelines for the process of cross-cultural adaptations of assessment measures were implemented. A sample of 303 young military recruits participated in the study. Factor structure, reliability, and validity of scores on the PCS-MY were examined. Convergent validity was investigated with the Positive and Negative Affect Scale, Short-form 12 version 2, and Ryff's Psychological Well-being Scale.
RESULTS: Most participants were men, ranging in age from 19 to 26. The reliability of the PCS-MY scores was adequate (α = 0.90; mean inter-item correlation = 0.43). Confirmatory factor analysis showed that a modified version of the PCS-MY provided best fit estimates to the sample data. The PCS-MY total score was negatively correlated with mental well-being and positively correlated with negative affect (all ps < 0.001).
CONCLUSION: The PCS-MY was demonstrated to have adequate reliability and validity estimates in the study sample.
METHODS: 20-Plex proteins were quantified using Human Magnetic Luminex® assay (R&D Systems, USA) from plasma and SF of OA (n = 14) and non-OA (n = 14) patients. Ingenuity Pathway Analysis (IPA) software was used to predict the relationship and possible interaction of molecules pertaining to OA.
RESULTS: There were significant differences in plasma level for matrix metalloproteinase (MMP)-3, interleukin (IL)-27, IL-8, IL-4, tumour necrosis factor-alpha, MMP-1, IL-15, IL-21, IL-10, and IL-1 beta between the groups, as well as significant differences in SF level for IL-15, IL-8, vascular endothelial growth factor (VEGF), MMP-1, and IL-18. Our predictive OA model demonstrated that toll-like receptor (TLR) 2, macrophage migration inhibitory factor (MIF), TLR4 and IL-1 were the main regulators of IL-1B, IL-4, IL-8, IL-10, IL-15, IL-21, IL-27, MMP-1 and MMP-3 in the plasma system; whilst IL-1B, TLR4, IL-1, and basigin (BSG) were the regulators of IL-4, IL-8, IL-10, IL-15, IL-18, IL-21, IL-27, MMP-1, and MMP-3 in the SF system.
CONCLUSION: The elevated plasma IL-8 and SF IL-18 may be associated with the pathogenesis of OA via the activation of MMP-3.