METHODS: To understand the genetic factor in a family with GGE, we performed whole exome sequencing (WES) on a trio of a juvenile myoclonic epilepsy/febrile seizure (JME/FS) proband with JME/FS mother and healthy father. Sanger sequencing was carried out for validation of WES results and variant detection in other family members.
RESULTS: Predictably damaging variant found in affected proband and mother but absent in healthy father in SCN1A gene was found to be associated with generalized epilepsy and febrile seizure. The novel non-synonymous substitution (c.5753C>T, p.S1918F) in SCN1A was found in all family members with GGE, of which 4/8 were JME subtypes, and/or febrile seizure, while 3 healthy family member controls did not have the mutation. This mutation was also absent in 41 GGE patients and 414 healthy Malaysian Chinese controls.
CONCLUSION: The mutation is likely to affect interaction between the sodium channel and calmodulin and subsequently interrupt calmodulin-dependent modulation of the channel.
METHODS: One hundred computed tomography scans of disease-free knees were analyzed. A 3-dimensional reconstructed image of the tibia was generated and aligned to its anatomic axis in the coronal and sagittal planes. The tibia was then rotationally aligned to the tibial plateau (tibial centroid axis) and PTS was measured from best-fit planes on the surface of the proximal tibia and individually for the medial and lateral plateaus. This was then repeated with the tibia rotationally aligned to the ankle (transmalleolar axis).
RESULTS: When rotationally aligned to the tibial plateau, the mean PTS, medial PTS, and lateral PTS were 11.2° ± 3.0 (range, 4.7°-17.7°), 11.3° ± 3.2 (range, 2.7°-19.7°), and 10.9° ± 3.7 (range, 3.5°-19.4°), respectively. When rotationally aligned to the ankle, the mean PTS, medial PTS, and lateral PTS were 11.4° ± 3.0 (range, 5.3°-19.3°), 13.9° ± 3.7 (range, 3.1°-24.4°), and 9.7° ± 3.6 (range, 0.8°-17.7°), respectively.
CONCLUSION: The PTS in the normal Asian knee is on average 11° (mean) with a reference range of 5°-17° (mean ± 2 standard deviation). This has implications to surgery and implant design.
METHODS: Between 2006 and 2012, 22 patients underwent revision surgery using MoM bearing (28 mm femoral head in 18 hips and 32 mm in 4 hips) for ceramic bearing fracture and followed average 52.1 months. We assessed radiological parameter and functional outcome using Harris hip score (HHS) and WOMAC score. Also, serum cobalt (Co) and chromium (Cr) blood tests were performed and compared with the result obtained from age, sex- and follow-up duration-matched patients with MoM revision THA for failed polyethylene bearing.
RESULTS: The mean HHS improved from 60.6 preoperatively to 90.3 at final follow-up. There were no changes in cup position, progression of osteolytic lesions, and measurable wear of MoM bearing articulation at final follow-up radiographs. There was one case of recurrent dislocation after surgery, which was treated with greater trochanter distal advancement and one case of deep infection, which underwent two-stage revision. Mean serum Co level (1.7 vs. 1.4 μg/dl; p = 0.211) and Cr level (0.70 vs. 1.01 μg/dl; p = 0.327) showed no significant difference.
CONCLUSIONS: MoM articulation with liner cementation into the acetabular cup along with total synovectomy can be chosen in revision surgery for ceramic fracture with good midterm follow-up. However, the use of MoM bearing is indicated when the stem and metal shell can be retained and ceramic on ceramic or ceramic on polyethylene bearing cannot be selected. Also long-term outcome needs to be further evaluated.
METHODS: Retrospective review of 48 patients (48 hips) with follow-up duration of average 11.4 years (range, 6.1-21.4 years) was conducted. At each follow-up, Harris hip score was used to assess functional outcome, and radiographic acetabular component osteolysis was measured by DeLee and Charnley classification. Bone defects were assessed preoperatively and intraoperatively using American academy of orthopedic surgeons and Paprosky classification. The common modes of ARRH failures were evaluated. Bone consolidation, presence of heterotopic ossification, and complications such as infection and dislocation were recorded.
RESULTS: The bone defects were varied and included cavitary, segmental, and combined defects without any pelvic discontinuity. Mean Harris hip score improved from 52.6 points preoperatively to 82.0 points postoperatively. Nine acetabular revisions and 3 stem revisions (2 concurrent with acetabular revisions and 1 isolated stem revision) were performed. There were 5 infected cases and 1 patient with recurrent dislocation. The 11.4-year survival of revision THA with ARRH was 71% as the end point for acetabular revision surgery for any reason. The expected 15-year survival of revision THA with ARRH was 60%. The most common failure mode of ARRH was superomedial migration followed by lateral migration.
CONCLUSION: ARRH combined with bone grafting produces relatively good average long-term clinical results.
METHODS: Two detection architectures, Single Shot Multibox Detector (SSD) and Faster Regional based Convolutional Neural Network (R-CNN) with various feature extractors were trained on echocardiography images from 33 patients. Thereafter, the models were tested on 10 echocardiography videos.
RESULTS: Faster R-CNN Inception v2 had shown the highest accuracy (98.6%) followed closely by SSD Mobilenet v2. In terms of speed, SSD Mobilenet v2 resulted in a loss of 46.81% in framesper- second (fps) during real-time detection but managed to perform better than the other neural network models. Additionally, SSD Mobilenet v2 used the least amount of Graphic Processing Unit (GPU) but the Central Processing Unit (CPU) usage was relatively similar throughout all models.
CONCLUSION: Our findings provide a foundation for implementing a convolutional detection system to echocardiography for medical purposes.