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

La signification des ossements trouvés dans les fouilles du Vatican.

Zeiller Jacques, Bernardi M. La signification des ossements trouvés dans les fouilles du Vatican. In: Bulletin de la Société Nationale des Antiquaires de France, 1957, 1959. pp. 97-98

Induction of a depression-like negativity bias by cathodal transcranial direct current stimulation

Cognitive control (CC) over emotional distraction is of particular importance for adaptive human behaviour and is associated with activity in the left dorsolateral prefrontal cortex (dlPFC). Deficient CC, e.g., presenting as negativity bias, has been suggested to underlie many of the core symptoms of major depression (MD) and is associated with impairments of dlPFC function. Correspondingly, enhancement of dlPFC activity with anodal transcranial direct current stimulation (tDCS) can ameliorate these impairments in patients with MD. Here, we tested the hypothesis that a reduction of dlPFC activity by cathodal tDCS induces CC deficits, thus triggering a depression-like negativity bias in healthy subjects. Twenty-eight individuals participated in a double-blinded, balanced randomized crossover trial of cathodal (1 mA, 20 min) and sham tDCS applied to the left dlPFC. To assess CC we conducted a delayed response working memory (DWM) task and an arithmetic inhibition task (AIT) with pictures of varying valent content (negative, neutral, positive) during and immediately after stimulation. Cathodal tDCS led to impaired CC specifically over negative material as assessed by reduced response accuracy in the DWM and prolonged response latency in the AIT. Hence, the current study supports the notion that left dlPFC is critically involved in CC over negative material. Together with previously reported beneficial anodal effects, it indicates that the hypoactivation of left dlPFC causes deficits in CC over negative material, which is a possible aetiological mechanism of depression

Posterior thoracic segmental pedicle screw instrumentation: evolving methods of safe and effective placement

The use of pedicle screw instrumentation in the spine has evolved over the last two decades. The initial use of pedicle screws began in the lumbar spine. As surgeons have become more comfortable with the complex anatomy required for accurate screw placement, the use of pedicle instrumentation has evolved to include their use in the thoracolumbar and thoracic spine. The impetus behind their increased use is a result of the many advantages that pedicle screw anchorage offers over traditional hook and rod constructs. Improved deformity correction and overall construct rigidity are two important advantages of pedicle screw instrumentation due its three-column control over the spinal elements. First, pedicle screw instrumentation obviates the need to place instrumentation within the spinal canal with its inherent risk of neurologic injury. Second, the placement of pedicle screws is independent of facet or laminar integrity and thus has been extremely useful in traumatic, neoplastic, and degenerative conditions. The benefits of pedicle screws in the thoracic spine has been tempered by the potential for catastrophic neurological or soft tissue injuries due to the close proximity of these structures. The narrow and inconsistent shape of the thoracic pedicles, especially in spinal deformity, makes their placement technically challenging. As a result, surgeons have employed a number of techniques to ensure the safe and efficacious placement of thoracic pedicle screws. Detailed anatomic landmarks used to determine pedicle location, intraoperative imaging including navigation, and neurophysiological monitoring are some of the techniques currently used by surgeons. The implementation of these techniques and a thorough understanding of the complex three-dimensional anatomy have allowed surgeons to successfully place thoracic and thoracolumbar pedicle screws

Systemic colonization of clover (<em>Trifolium repens</em>) by <em>Clostridium botulinum</em> strain 2301.

In recent years, cases of botulism in cattle and other farm animals and also in farmers increased dramatically. It was proposed, that these cases could be affiliated with the spreading of compost or other organic manures contaminated with Clostridium botulinum spores on farm land. Thus, soils and fodder plants and finally farm animals could be contaminated. Therefore, the colonization behavior and interaction of the botulinum neurotoxin (BoNT D) producing C. botulinum strain 2301 and the non-toxin producing Clostridium sporogenes strain 1739 were investigated on clover (Trifolium repens) in a field experiment as well as in phytochamber experiments applying axenic and additionally soil based systems under controlled conditions. Plants were harvested and divided into root and shoot parts for further DNA isolation and polymerase chain reaction (PCR) assays; subsamples were fixed for fluorescence in situ hybridization analysis in combination with confocal laser scanning microscopy. In addition, we observed significant differences in the growth behavior of clover plants when inoculated with clostridial spores, indicating a plant growth promoting effect. Inoculated plants showed an increased growth index (shoot size, wet and dry weight) and an enlarged root system induced by the systemic colonization of clover by C. botulinum strain 2301. To target C. botulinum and C. sporogenes, 16S rDNA directed primers were used and to specifically detect C. botulinum, BoNT D toxin genes targeted primers, using a multiplex PCR approach, were applied. Our results demonstrate an effective colonization of roots and shoots of clover by C. botulinum strain 2301 and C. sporogenes strain 1739. Detailed analysis of colonization behavior showed that C. botulinum can occur as individual cells, in cell clusters and in microcolonies within the rhizosphere, lateral roots and within the roots tissue of clover