Unusual manifestation of Erdheim-Chester disease

<p>Abstract</p> <p>Background</p> <p>Erdheim-Chester disease (ECD) is a rare multisystem non-Langerhans cell histiocytosis that is characterized histologically by xanthogranulomatous infiltrates and radiologically by symmetrical sclerosis of long bones. The xanthomatous process is characterized by prominent foamy histiocytes staining positive for CD68, occasionally for PS100 and negative for S100 and CD1a. Gastroenterological involvement is exceedingly rare.</p> <p>Case Presentation</p> <p>This case report describes the case of a 69-year-old man who presented otherwise well to the gastroenterology department with unspecific abdominal symptoms, nausea, vomiting and weight loss. ECD involving the gastrointestinal tract was confirmed clinically, radiologically and histologically.</p> <p>Conclusion</p> <p>Gastroenterological manifestation of ECD is rare but should be considered in the differential diagnosis in patients presenting with evidence of multi-organ disease and typical radiological features of Erdheim-Chester disease elsewhere.</p

Activation of the MAPK pathway is a common event in uveal melanomas although it rarely occurs through mutation of BRAF or RAS

In contrast to cutaneous melanoma, there is no evidence that BRAF mutations are involved in the activation of the mitogen-activated protein kinase (MAPK) pathway in uveal melanoma, although there is increasing evidence that this pathway is activated frequently in the latter tumours. In this study, we performed mutation analysis of the RAS and BRAF genes in a panel of 11 uveal melanoma cell lines and 19 primary uveal melanoma tumours. In addition, Western blot and immunohistochemical analyses were performed on downstream members of the MAPK pathway in order to assess the contribution of each of these components. No mutations were found in any of the three RAS gene family members and only one cell line carried a BRAF mutation (V599E). Despite this, mitogen-activated protein kinase/extracellular signal-regulated kinase kinase (MEK), ERK and ELK were constitutively activated in all samples. These data suggest that activation of the MAPK pathway is commonly involved in the development of uveal melanoma, but occurs through a mechanism different to that of cutaneous melanoma

Real-world assessment of intravitreal dexamethasone implant (0.7&nbsp;mg) in patients with macular edema: the CHROME study

Wai-Ching Lam,1 David A Albiani,2 Pradeepa Yoganathan,3 John Chanchiang Chen,4 Amin Kherani,5 David AL Maberley,6 Alejandro Oliver,7 Theodore Rabinovitch,3 Thomas G Sheidow,8 Eric Tourville,9 Leah A Wittenberg,10 Chris Sigouin,11 Darryl C Baptiste12 1Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, 2West Coast Retinal Consultants, Vancouver, BC, 3North Toronto Eye Care, North York, ON, 4Department of Ophthalmology, McGill University, Montreal, QC, 5Southern Alberta Eye Center, Calgary, AB, 6Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, BC, 7Timmins and District Hospital, Timmins, ON, 8Ivey Eye Institute, London, ON, 9Center Oculaire de Quebec, Quebec City, QC, 10Retina Surgical Associates, New Westminster, BC, 11Clinwest Research Inc, Burlington, ON, 12Allergan Inc., Markham, ON, Canada Background: The purpose of this study was to evaluate the real-world use, efficacy, and safety of one or more dexamethasone intravitreal implant(s) 0.7 mg (DEX implant) in patients with macular edema (ME).Methods: This was a retrospective cohort study of patients with ME secondary to retinal disease treated at ten Canadian retina practices, including one uveitis center. Best-corrected visual acuity (BCVA), central retinal thickness (CRT), intraocular pressure (IOP), glaucoma and cataract surgery, and safety data were collected from the medical charts of patients with &ge;3 months of follow-up after the initial DEX implant.Results: One hundred and one patient charts yielded data on 120 study eyes, including diagnoses of diabetic ME (DME) (n=34), retinal vein occlusion (RVO, n=30; branch in 19 and central in 11), and uveitis (n=23). Patients had a mean age of 60.9 years, and 73.3% of the study eyes had ME for a duration of &ge;12&nbsp;months prior to DEX implant injection(s). Baseline mean (&plusmn; standard error) BCVA was 0.63&plusmn;0.03 logMAR (20/86 Snellen equivalents) and mean CRT was 474.4&plusmn;18.2 &micro;m. The mean number of DEX implant injections was 1.7&plusmn;0.1 in all study eyes; 44.2% of eyes had repeat DEX implant injections (reinjection interval 2.3&ndash;4.9&nbsp;months). The greatest mean peak changes in BCVA lines of vision occurred in study eyes with uveitis (3.3&plusmn;0.6, P&lt;0.0001), followed by RVO (1.3&plusmn;0.5, P&lt;0.01) and DME (0.7&plusmn;0.5, P&gt;0.05). Significant decreases in CRT were observed: -255.6&plusmn;43.6 &micro;m for uveitis, -190.9&plusmn;23.5 &micro;m for DME, and -160.7&plusmn;39.6 &micro;m for RVO (P&lt;0.0001 for all cohorts). IOP increases of &ge;10&nbsp;mmHg occurred in 20.6%, 24.1%, and 22.7% of DME, RVO, and uveitis study eyes, respectively. IOP-lowering medication was initiated in 29.4%, 16.7%, and 8.7% of DME, RVO, and uveitis study eyes, respectively. Glaucoma surgery was performed in 1.7% of all study eyes and cataract surgery in 29.8% of all phakic study eyes receiving DEX implant(s).Conclusion: DEX implant(s) alone or combined with other treatments and/or procedures resulted in functional and anatomic improvements in long-standing ME associated with retinal disease. Keywords: diabetic macular edema, posterior segment inflammatory disease, retinal vein occlusion, registry, sustained-release dexamethasone implant, Ozurdex&reg

Quantitative multiparametric MRI in uveal melanoma: increased tumor permeability may predict monosomy 3

Introduction: Uveal melanoma is a rare intraocular tumor with heterogeneous biological behavior, and additional noninvasive markers that may predict outcome are needed. Diffusion- and perfusion-weighted imaging may prove useful but have previously been limited in their ability to evaluate ocular tumors. Our purpose was to show the feasibility and potential value of a multiparametric (mp-) MRI protocol employing state of the art diffusion- and perfusion-weighted imaging techniques. Methods: Sixteen patients with uveal melanoma were imaged with mp-MRI. Multishot readout-segmented echoplanar diffusion-weighted imaging, quantitative dynamic contrast-enhanced (DCE) MR perfusion imaging, and anatomic sequences were obtained. Regions of interest (ROIs) were drawn around tumors for calculation of apparent diffusion coefficient (ADC) and perfusion metrics (Ktrans, ve, kep, and vp). A generalized linear fit model was used to compare various MRI values with the American Joint Commission on Cancer (AJCC) tumor group and monosomy 3 status with significance set at P &lt; 0.05. Results: mp-MRI was performed successfully in all cases. MRI tumor height (mean [standard deviation]) was 6.5&nbsp;mm (3.0). ROI volume was 278&nbsp;mm3 (222). ADC was 1.07 (0.27) × 10–3&nbsp;mm2/s. DCE metrics were Ktrans 0.085/min (0.063), ve 0.060 (0.052), kep 1.20/min (0.32), and vp 1.48&nbsp;% (0.82). Patients with &gt;33&nbsp;% monosomy 3 had higher Ktrans and higher ve values than those with disomy 3 or ≤33&nbsp;% monosomy (P &lt; 0.01). There were no significant differences between ADC (P = 0.07), kep (P = 0.37), and vp with respect to monosomy 3. Conclusion: mp-MRI for ocular tumor imaging using multishot EPI DWI and quantitative DCE perfusion is technically feasible. mp-MRI may help predict monosomy 3 in uveal melanoma