A patient with Melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: a case report

<p>Abstract</p> <p>Introduction</p> <p>A case of melorheostosis in association with tricho-dento-osseous (TDO) syndrome has been encountered.</p> <p>Case presentation</p> <p>The clinical and the radiographic manifestations of melorheostosis have been encountered in a 41-year-old man. Mutations in the 13 exons and flanking intronic regions of the LEMD3-gene have not been detected. His phenotypic features were consistent but not completely diagnostic for tricho-dento-osseous syndrome (TDO). We report what might be a novel syndromic association.</p> <p>Conclusion</p> <p>Melorheostosis has not previously been reported to be a part of TDO and an extensive review of the literature suggests that the constellation of hair, tooth and bone abnormalities found in our patient either represents an unusual variant of tricho-dento-osseous syndrome or a new syndrome.</p

Intestinal Epithelial Cell-Specific Deletion of PLD2 Alleviates DSS-Induced Colitis by Regulating Occludin

Ulcerative colitis is a multi-factorial disease involving a dysregulated immune response. Disruptions to the intestinal epithelial barrier and translocation of bacteria, resulting in inflammation, are common in colitis. The mechanisms underlying epithelial barrier dysfunction or regulation of tight junction proteins during disease progression of colitis have not been clearly elucidated. Increase in phospholipase D (PLD) activity is associated with disease severity in colitis animal models. However, the role of PLD2 in the maintenance of intestinal barrier integrity remains elusive. We have generated intestinal specific Pld2 knockout mice (Pld2 IEC-KO) to investigate the mechanism of intestinal epithelial PLD2 in colitis. We show that the knockout of Pld2 confers protection against dextran sodium sulphate (DSS)-induced colitis in mice. Treatment with DSS induced the expression of PLD2 and downregulated occludin in colon epithelial cells. PLD2 was shown to mediate phosphorylation of occludin and induce its proteasomal degradation in a c-Src kinase-dependent pathway. Additionally, we have shown that treatment with an inhibitor of PLD2 can rescue mice from DSS-induced colitis. To our knowledge, this is the first report showing that PLD2 is pivotal in the regulation of the integrity of epithelial tight junctions and occludin turn over, thereby implicating it in the pathogenesis of colitis

Accuracy of thoracic pedicle screw placement in scoliosis using the ideal pedicle entry point during the freehand technique

Previously, we described the ideal pedicle entry point (IPEP) for the thoracic spine at the base of the superior facet at the junction of the lateral one third and medial two thirds with the freehand technique on cadavers. Here we measured the accuracy of thoracic pedicle screw placement (Chung et al. Int Orthop 2008) on post-operative computed tomography (CT) scans in 43 scoliosis patients who underwent operation with the freehand technique taking the same entry point. Of the 854 inserted screws, 268 (31.3%) were displaced; 88 (10.3%) and 180 (21.0%) screws were displaced medially and laterally, respectively. With regard to the safe zone, 795 screws were within the safe zone representing an accuracy rate of 93%; 448 and 406 thoracic screws inserted in adolescent idiopathic and neuromuscular scoliosis showed an accuracy of 89.9 and 94%, respectively (p = 0.6475). The accuracy rate of screws inserted in the upper, middle and lower thoracic pedicles were 94.2, 91.6 and 93.7%, respectively (p = 0.2411). The results indicate that IPEP should be considered by surgeons during thoracic pedicle screw instrumentation