Citations

Abstract Objective To review and evaluate available software tools for electronic health record–driven phenotype authoring in order to identify gaps and needs for future development. Materials and Methods Candidate phenotype authoring tools were identified through (1) literature search in four publication databases (PubMed, Embase, Web of Science, and Scopus) and (2) a web search. A collection of tools was compiled and reviewed after the searches. A survey was designed and distributed to the developers of the reviewed tools to discover their functionalities and features. Results Twenty-four different phenotype authoring tools were identified and reviewed. Developers of 16 of these identified tools completed the evaluation survey (67% response rate). The surveyed tools showed commonalities but also varied in their capabilities in algorithm representation, logic functions, data support and software extensibility, search functions, user interface, and data outputs. Discussion Positive trends identified in the evaluation included: algorithms can be represented in both computable and human readable formats; and most tools offer a web interface for easy access. However, issues were also identified: many tools were lacking advanced logic functions for authoring complex algorithms; the ability to construct queries that leveraged un-structured data was not widely implemented; and many tools had limited support for plug-ins or external analytic software. Conclusions Existing phenotype authoring tools could enable clinical researchers to work with electronic health record data more efficiently, but gaps still exist in terms of the functionalities of such tools. The present work can serve as a reference point for the future development of similar tools.

Trafficking from bedside to bench Typically in translational research, a discovery in cell or molecular biology is later exploited to improve patient care. Occasionally, information flows in the opposite direction. Lo et al. found that patients with an autoimmune disorder caused by deficiency of a protein called LRBA responded dramatically to the drug abatacept (see the Perspective by Sansom). Abatacept contains a segment of a potent inhibitory immune receptor, CTLA4. Experiments prompted by this observation revealed the relationship between the two proteins: LRBA controls the intracellular trafficking and degradation of CTLA4. This information may further improve patient care, because other clinically approved drugs have the desired mechanism of action with potentially fewer side effects. Science , this issue p. 436 ; see also p. 377

OBJECT External ventricular drainage (EVD) after intraventricular hemorrhage (IVH) without symptomatic hydrocephalus is controversial. The object of this study was to examine indicators or the timeframe for hydrocephalus in patients not immediately treated with EVD after IVH. METHODS Records from 2007 to 2014 were searched for “intraventricular hemorrhage” or “IVH.” Inclusion criteria were IVH after intracerebral hemorrhage (ICH), trauma, tumor, or vascular anomalies. Exclusion criteria were IVH with more than minimal subarachnoid hemorrhage, catastrophic ICH, layering IVH only, or hydrocephalus treated immediately with EVD. IVH was measured with the modified Graeb Score (mGS). An mGS of 5 indicates a full ventricle with dilation. Statistics included chi-square, Student’s t-test, and Mann-Whitney tests; receiver operating characteristics; and uni- and multivariate logistic regression. RESULTS One hundred five patients met the criteria; of these, 30 (28.6%) required EVD. Panventricular IVH was the most common pattern (n = 49, 46.7%), with 25 of these patients (51%) requiring EVD. The median mGS was 18 ± 5.4 (range 12–29) and 9 ± 4.5 (range 2–21) in the EVD and No-EVD groups, respectively (p < 0.001). Factors associated with EVD were radiological hydrocephalus at presentation, midline shift > 5 mm, Glasgow Coma Scale (GCS) score < 8, mGS > 13, third ventricle mGS = 5, and fourth ventricle mGS = 5. On multivariate analysis, GCS score < 8 [4.02 (range 1.13–14.84), p = 0.032], mGS > 13 [3.83 (range 1.02–14.89), p = 0.046], and fourth ventricle mGS = 5 [5.01 (range 1.26–22.78), p = 0.022] remained significant. Most patients treated with EVD (n = 25, 83.3%) required it soon after presentation [6.4 ± 3.3 (range 1.5–14) hrs]. The remaining 5 patients (16.7%) had a delayed EVD requirement [70.7 ± 22.7 (range 50–104.5) hrs]. CONCLUSIONS In this study population, the risk for EVD was variable, but greater with mGS > 13, coma, and a dilated fourth ventricle. While the need for EVD occurs within the 1st day after IVH in most patients, a minority require EVD after 48 hours.

PurposeTo describe how integrated gradient nonlinearity (GNL) correction can be used within noniterative partial Fourier (homodyne) and parallel (SENSE and GRAPPA) MR image reconstruction strategies, and demonstrate that performing GNL correction during, rather than after, these routines mitigates the image blurring and resolution loss caused by postreconstruction image domain based GNL correction.MethodsStarting from partial Fourier and parallel magnetic resonance imaging signal models that explicitly account for GNL, noniterative image reconstruction strategies for each accelerated acquisition technique are derived under the same core mathematical assumptions as their standard counterparts. A series of phantom and in vivo experiments on retrospectively undersampled data were performed to investigate the spatial resolution benefit of integrated GNL correction over conventional postreconstruction correction.ResultsPhantom and in vivo results demonstrate that the integrated GNL correction reduces the image blurring introduced by the conventional GNL correction, while still correcting GNL‐induced coarse‐scale geometrical distortion. Images generated from undersampled data using the proposed integrated GNL strategies offer superior depiction of fine image detail, for example, phantom resolution inserts and anatomical tissue boundaries.ConclusionNoniterative partial Fourier and parallel imaging reconstruction methods with integrated GNL correction reduce the resolution loss that occurs during conventional postreconstruction GNL correction while preserving the computational efficiency of standard reconstruction techniques. Magn Reson Med 75:2534–2544, 2016. © 2015 Wiley Periodicals, Inc.

Objective: The objective of the analysis was to review the effectiveness of a care process model (CPM) developed to guide management of patients on insulin pump therapy undergoing elective surgical procedures. Methods: Electronic medical records were reviewed to assess the impact of the CPM on documentation of insulin pump status, glucose monitoring, and safety during the perioperative phase of care. Post-CPM care was compared with management provided before CPM implementation. Results: We reviewed 45 cases on insulin pump therapy in the pre-CPM cohort and 106 in the post-CPM cohort. Demographic characteristics, categories of surgery, and perioperative times were not significantly different between the 2 groups. Recommended hemoglobin A1c monitoring occurred in 73% of cases in the pre-CPM cohort but improved to 94% in the post-CPM group ( P < .01). There was a higher frequency of documentation of the insulin pump during the preoperative, intraoperative, and postanesthesia care unit segments of care in the post- vs pre-CPM periods (all P < .01). The number of cases with intraoperative glucose monitoring increased (57% pre-CPM vs 81% post-CPM; P < .01). Glycemic control was comparable between the 2 CPM periods. Hypoglycemia was rare, with only 3 episodes in the pre-CPM group and 4 in the post-CPM. No adverse events associated with perioperative insulin pump use were observed. Conclusions: This analysis adds to previous data on use of insulin pump therapy during the perioperative period. Some processes require additional attention, but data continue to indicate that a standardized approach to care can lead to a successful and safe transition of insulin pump therapy throughout the perioperative period.

Background and Purpose— The majority of genome-wide association studies (GWAS) of stroke have focused on European-ancestry populations; however, none has been conducted in African Americans, despite the disproportionately high burden of stroke in this population. The Consortium of Minority Population Genome-Wide Association Studies of Stroke (COMPASS) was established to identify stroke susceptibility loci in minority populations. Methods— Using METAL, we conducted meta-analyses of GWAS in 14 746 African Americans (1365 ischemic and 1592 total stroke cases) from COMPASS, and tested genetic variants with P <10 −6 for validation in METASTROKE, a consortium of ischemic stroke genetic studies in European-ancestry populations. We also evaluated stroke loci previously identified in European-ancestry populations. Results— The 15q21.3 locus linked with lipid levels and hypertension was associated with total stroke (rs4471613; P =3.9×10 −8 ) in African Americans. Nominal associations ( P <10 −6 ) for total or ischemic stroke were observed for 18 variants in or near genes implicated in cell cycle/mRNA presplicing ( PTPRG , CDC5L ), platelet function ( HPS4 ), blood–brain barrier permeability ( CLDN17 ), immune response ( ELTD1, WDFY4 , and IL1F10-IL1RN ), and histone modification ( HDAC9 ). Two of these loci achieved nominal significance in METASTROKE: 5q35.2 ( P =0.03), and 1p31.1 ( P =0.018). Four of 7 previously reported ischemic stroke loci ( PITX2, HDAC9, CDKN2A/CDKN2B , and ZFHX3 ) were nominally associated ( P <0.05) with stroke in COMPASS. Conclusions— We identified a novel genetic variant associated with total stroke in African Americans and found that ischemic stroke loci identified in European-ancestry populations may also be relevant for African Americans. Our findings support investigation of diverse populations to identify and characterize genetic risk factors, and the importance of shared genetic risk across populations.

Abstract Metastatic epidural spinal cord compression (MESCC) is an oncologic emergency and if left untreated, permanent paralysis will ensue. The treatment of MESCC is governed by disease, patient, and treatment factors. Patient's preferences and goals of care are to be weighed into the treatment plan. Ideally, a patient with MESCC is evaluated by an interdisciplinary team promptly to determine the urgency of the clinical scenario. Treatment recommendations must take into consideration the risk-benefit profiles of surgical intervention and radiotherapy for the particular individual's circumstance, including neurologic status, performance status, extent of epidural disease, stability of the spine, extra-spinal disease status, and life expectancy. In patients with high spinal instability neoplastic score (SINS) or retropulsion of bone fragments in the spinal canal, surgical intervention should be strongly considered. The rate of development of motor deficits from spinal cord compression may be a prognostic factor for ultimate functional outcome, and should be taken into account when a treatment recommendation is made. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed every three years by a multidisciplinary expert panel. The guideline development and review include an extensive analysis of current medical literature from peer-reviewed journals and the application of a well-established consensus methodology (modified Delphi) to rate the appropriateness of imaging and treatment procedures by the panel. In those instances where evidence is lacking or not definitive, expert opinion may be used to recommend imaging or treatment.

PurposeNoninvasive imaging techniques that quantify renal tissue composition are needed to more accurately ascertain prognosis and monitor disease progression in polycystic kidney disease (PKD). Given the success of magnetization transfer (MT) imaging to characterize various tissue remodeling pathologies, it was tested on a murine model of autosomal dominant PKD.MethodsC57Bl/6 Pkd1 R3277C mice at 9, 12, and 15 months were imaged with a 16.4T MR imaging system. Images were acquired without and with RF saturation in order to calculate MT ratio (MTR) maps. Following imaging, the mice were euthanized and kidney sections were analyzed for cystic and fibrotic indices, which were compared with statistical parameters of the MTR maps.ResultsThe MTR‐derived mean, median, 25th percentile, skewness, and kurtosis were all closely related to indices of renal pathology, including kidney weight/body weight, cystic index, and percent of remaining parenchyma. The correlation between MTR and histology‐derived cystic and fibrotic changes was R2 = 0.84 and R2 = 0.70, respectively.ConclusionMT imaging provides a new, noninvasive means of measuring tissue remodeling PKD changes and may be better suited for characterizing renal impairment compared with conventional MR techniques. Magn Reson Med 75:1466–1473, 2016. © 2015 The Authors. Magnetic Resonance in Medicine published by Wiley Periodicals, Inc. on behalf of International Society for Magnetic Resonance.