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Lhermitte-Duclos Disease is a rare clinical entity involving a dysplastic lesion of the cerebellum. The dysplastic cerebellar ganglioblastoma is often seen in association with Cowden Syndrome, an autosomal dominant disorder consisting of a mutation in the phosphatase and homologous tensin (PTEN) gene. Characteristic findings on neuroimaging allow for a pre-operative diagnosis to be made, which guides further management of the condition. This report describes the diagnosis and management of Lhermitte-Duclos Disease in a 51-year-old lady, spanning a period of almost seven years. The characteristic radiological and histological findings are presented, along with the clinical features associated with Cowden Syndrome. This patient ultimately underwent surgical intervention for symptomatic relief, which is described here. [ABSTRACT FROM AUTHOR]

In chronic lymphocytic leukemia (CLL) the level of minimal residual disease (MRD) after therapy is an independent predictor of outcome. Given the increasing number of new agents being explored for CLL therapy, using MRD as a surrogate could greatly reduce the time necessary to assess their efficacy. In this European Research Initiative on CLL (ERIC) project we have identified and validated a flow-cytometric approach to reliably quantitate CLL cells to the level of 0.0010% (10(-5)). The assay comprises a core panel of six markers (i.e. CD19, CD20, CD5, CD43, CD79b and CD81) with a component specification independent of instrument and reagents, which can be locally re-validated using normal peripheral blood. This method is directly comparable to previous ERIC-designed assays and also provides a backbone for investigation of new markers. A parallel analysis of high-throughput sequencing using the ClonoSEQ assay showed good concordance with flow cytometry results at the 0.010% (10(-4)) level, the MRD threshold defined in the 2008 International Workshop on CLL guidelines, but it also provides good linearity to a detection limit of 1 in a million (10(-6)). The combination of both technologies would permit a highly sensitive approach to MRD detection while providing a reproducible and broadly accessible method to quantify residual disease and optimize treatment in CLL.

Bo Ding,1 Lee Kallenbach,2 Lukas Slipski,2 Alan Wilk,2 Dan O’Brien,2 Deniz Guranlioglu3 1AstraZeneca, Gothenburg, Sweden; 2Practice Fusion, San Francisco, CA, USA; 3AstraZeneca, Cambridge, UKCorrespondence: Bo DingAstraZeneca, Pepparedsleden 1, Gothenburg SE 431 83, Mölndal, SwedenTel +46 31 776 2406Email Bo.Ding@astrazeneca.comIntroduction: This retrospective, observational cohort study utilized an integrated dataset from an electronic health records system and a claims database to describe demographic and clinical characteristics, healthcare resource utilization (HCRU), and treatment patterns in COPD patients initiating long-acting muscarinic antagonist (LAMA)/long-acting β2-agonist (LABA) fixed-dose combination (FDC) treatment in the USA.Methods: Patients were aged ≥ 40 years and had a COPD diagnosis (Practice Fusion system) and ≥ 1 prescription of LAMA/LABA FDC therapy, with an index date (first prescription) 1 May 2014– 31 December 2017. For the HCRU analysis, patients had ≥ 2 claims from the Symphony Health database within 12 months before index. All analyses of outcomes relating to demographic and clinical characteristics, HCRU, and treatment patterns were descriptive.Results: Patients initiating LAMA/LABA FDCs (n=8224) had a mean age of 67.9 years, 52.8% were female, and mean BMI was 29.2 kg/m2. The most common comorbidities were cardiovascular disease (74.3%), hypertension (64.0%), and hyperlipidemia (45.6%). In the 12 months prior to index, 53.1% of patients had used inhaled therapy: 23.4% short-acting therapy only, 16.7% short-acting and maintenance therapy, and 13.1% maintenance therapy only. Amongst users of inhaled therapies, the pMDI was the most frequently used device (64.3%, n=2812/4370). Of 7050 patients included in the HCRU analysis, 79.8% had COPD-related costs; mean cost/patient was $4174. Mean COPD-related costs per patient for moderate and severe exacerbations were $910 and $23,208, respectively. Per-patient costs included $23,032 for inpatient visits, $2358 for emergency visits, $4432 for outpatient visits, and $1989 for pharmacy claims.Conclusion: This observational study is the first to describe the real-world demographic and clinical characteristics and HCRU of patients initiating LAMA/LABA FDC treatment in the USA. Patients were generally elderly and overweight, with comorbidities of CVD, hypertension, and hyperlipidemia. Inpatient visits were the largest contributor to COPD-related costs per patient in the year prior to initiation of LAMA/LABA FDCs.Keywords: muscarinic antagonist, β2-agonist, demographic characteristics, disease characteristics, cost

Frank Trudo,1 Lee Kallenbach,2 Joseph Vasey,2 Yen Chung,1 Alan Wilk,2 Lukas Slipski,2 Dan O’Brien,2 Charlie Strange3 1Respiratory and Inflammation Therapeutic Area, AstraZeneca, Wilmington, DE, USA; 2Life Sciences, Practice Fusion, San Francisco, CA, USA; 3Department of Medicine, Medical University of South Carolina, Charleston, SC, USACorrespondence: Frank TrudoAstraZeneca Pharmaceuticals, 1800 Concord Pike, Wilmington, DE 19897, USAEmail Frank.Trudo@astrazeneca.comPurpose: We sought to describe clinical and economic outcomes for COPD patients by blood eosinophil (EOS) count.Methods: This retrospective cohort study of COPD patients used data from the Practice Fusion electronic medical records (EMR) database linked to Symphony Health Solutions transactional pharmacy, medical, outpatient, and inpatient claims data to evaluate COPD-related and all-cause health care resource utilization and cost in the 12-month period following the date of each patient’s greatest recorded blood eosinophil count during the 27-month period from January 2014 to March 2016. A post-index moderate exacerbation was defined as an outpatient or emergency care visit for COPD and a prescription for oral corticosteroid and/or antibiotics within 10 days of the visit. Severe exacerbation was defined as an inpatient hospitalization with COPD as primary diagnosis.Results: Of 48,090 EMR patients, 39,939 (83.1%) had a charge in the claims data both pre- and post-index (mean age 67.2 years, 58.3% female), 17,397 (43.6%) had EOS ≥220 cells/μL. Moderate and severe exacerbations were more frequent for patients with EOS≥220 cells/μL compared with those with EOS Conclusion: COPD patients with EOS counts ≥220 cells/μL were more likely to have had moderate or severe exacerbations and greater cost of care than those with EOS Keywords: clinical phenotypes, electronic medical records, exacerbations, health care resource utilization, eosinophils