Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role

The availability of glucose, and its glycolytic product lactate, for cerebral energy metabolism is regulated by specific brain transporters. Inadequate energy delivery leads to neurologic impairment. Haploinsufficiency of the glucose transporter GLUT1 causes a characteristic early onset encephalopathy, and has recently emerged as an important cause of a variety of childhood or later‐onset generalized epilepsies and paroxysmal exercise‐induced dyskinesia. We explored whether mutations in the genes encoding the other major glucose (GLUT3) or lactate (MCT1/2/3/4) transporters involved in cerebral energy metabolism also cause generalized epilepsies. A cohort of 119 cases with myoclonic astatic epilepsy or early onset absence epilepsy was screened for nucleotide variants in these five candidate genes. No epilepsy‐causing mutations were identified, indicating that of the major energetic fuel transporters in the brain, only GLUT1 is clearly associated with generalized epilepsy.     

3D Assessment of Cortical Bone Porosity and Tissue Mineral Density Using High‐Resolution µCT: Effects of Resolution and Threshold Method

Current micro–computed tomography (µCT) systems allow scanning bone at resolutions capable of three‐dimensional (3D) characterization of intracortical vascular porosity and osteocyte lacunae. However, the scanning and reconstruction parameters along with the image segmentation method affect the accuracy of the measurements. In this study, the effects of scanning resolution and image threshold method in quantifying small features of cortical bone (vascular porosity, vascular canal diameter and separation, lacunar porosity and density, and tissue mineral density) were analyzed. Cortical bone from the tibia of Sprague‐Dawley rats was scanned at 1‐µm and 4‐µm resolution, reconstructions were density‐calibrated, and volumes of interest were segmented using approaches based on edge‐detection or histogram analysis. In 1‐µm resolution scans, the osteocyte lacunar spaces could be visualized, and it was possible to separate the lacunar porosity from the vascular porosity. At 4‐µm resolution, the vascular porosity and vascular canal diameter were underestimated, and osteocyte lacunae were not effectively detected, whereas the vascular canal separation and tissue mineral density were overestimated compared to 1‐µm resolution. Resolution had a much greater effect on the measurements than did threshold method, showing partial volume effects at resolutions coarser than 2 µm in two separate analyses, one of which assessed the effect of resolution on an object of known size with similar architecture to a vascular pore. Although there was little difference when using the edge‐detection versus histogram‐based threshold approaches, edge‐detection was somewhat more effective in delineating canal architecture at finer resolutions (1–2 µm). In addition, use of a high‐resolution (1 µm) density‐based threshold on lower resolution (4 µm) density‐calibrated images was not effective in improving the lower‐resolution measurements. In conclusion, if measuring cortical vascular microarchitecture, especially in small animals, a µCT resolution of 1 to 2 µm is appropriate, whereas a resolution of at least 1 µm is necessary when assessing osteocyte lacunar porosity. © 2014 American Society for Bone and Mineral Research.     

Short uncemented stems allow greater femoral flexibility and may reduce peri-prosthetic fracture risk: a dry bone and cadaveric study

BackgroundShort femoral stems for uncemented total hip arthroplasty have been introduced as a safe alternative to traditional longer stem designs. However, there has been little biomechanical examination of the effects of stem length on complications of surgery. This study aims to examine the effect of femoral stem length on torsional resistance to peri-prosthetic fracture.ResultsSynthetic femora implanted with short stems fractured at a significantly higher torque (27.1 vs. 24.2 Nm, p = 0.03) and angle (30.3° vs. 22.3°, p = 0.002) than those implanted with long stems. Fracture patterns of the two groups were different, but showed remarkable consistency within each group. These characteristic fracture patterns were closely replicated in the pair of cadaveric femora.ConclusionsThis new short-stemmed press-fit femoral component allows more femoral flexibility and confers a higher resistance to peri-prosthetic fracture from torsional forces than long stems.     

Brief report: Decreased expression of CD244 (SLAMF4) on monocytes and platelets in patients with systemic lupus erythematosus

Clinical Rheumatology - The signalling lymphocyte activation molecule (SLAM) family receptors play important roles in modulating immune responses. Previous studies in murine models and patients...