99 research outputs found
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
The gsp oncogene disrupts Ras/ERK-dependent prolactin gene regulation in gsp inducible somatotroph cell line.
International audienceThe MAPK ERK1/2 cascade regulates all the critical cellular functions, and in many pathological situations, these regulatory processes are perturbed. It has been clearly established that this cascade is an integrative point in the control of the pituitary functions exerted by various extracellular signals. In particular, ERK1/2 cross talk with the cAMP pathway is determinant in the control of somatolactotroph hormonal secretion exerted via neuropeptide receptors. GH-secreting adenomas are characterized by frequent cAMP pathway alterations, such as constitutive activation of the α-subunit of the heterotrimeric Gs protein (the gsp oncogene), overexpression of Gsα, and changes in the protein kinase A regulatory subunits. However, it has not yet been established exactly how these alterations result in GH-secreting adenomas or how the ERK1/2 cascade contributes to the process of GH-secreting adenoma tumorigenesis. In this study on the conditional gsp-oncogene-expressing GH4C1 cell line, expression of the gsp oncogene, which was observed in up to 40% of GH-secreting adenomas, was found to induce sustained ERK1/2 activation, which required activation of the protein kinase A and the GTPases Ras and Rap1. All these signaling components contribute to the chronic activation of the human prolactin promoter. The data obtained here show that Ras plays a crucial role in these processes: in a physiopathological context, i.e. in the presence of the gsp oncogene, it switched from being a repressor of the cAMP/ protein kinase A ERK-sensitive prolactin gene control exerted by neuropeptides to an activator of the prolactin promoter
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