Automatic Labeling of Special Diagnostic Mammography Views from Images and DICOM Headers.

Applying state-of-the-art machine learning techniques to medical images requires a thorough selection and normalization of input data. One of such steps in digital mammography screening for breast cancer is the labeling and removal of special diagnostic views, in which diagnostic tools or magnification are applied to assist in assessment of suspicious initial findings. As a common task in medical informatics is prediction of disease and its stage, these special diagnostic views, which are only enriched among the cohort of diseased cases, will bias machine learning disease predictions. In order to automate this process, here, we develop a machine learning pipeline that utilizes both DICOM headers and images to predict such views in an automatic manner, allowing for their removal and the generation of unbiased datasets. We achieve AUC of 99.72% in predicting special mammogram views when combining both types of models. Finally, we apply these models to clean up a dataset of about 772,000 images with expected sensitivity of 99.0%. The pipeline presented in this paper can be applied to other datasets to obtain high-quality image sets suitable to train algorithms for disease detection

Tracing diagnosis trajectories over millions of patients reveal an unexpected risk in schizophrenia.

The identification of novel disease associations using big-data for patient care has had limited success. In this study, we created a longitudinal disease network of traced readmissions (disease trajectories), merging data from over 10.4 million inpatients through the Healthcare Cost and Utilization Project, which allowed the representation of disease progression mapping over 300 diseases. From these disease trajectories, we discovered an interesting association between schizophrenia and rhabdomyolysis, a rare muscle disease (incidence < 1E-04) (relative risk, 2.21 [1.80-2.71, confidence interval = 0.95], P-value 9.54E-15). We validated this association by using independent electronic medical records from over 830,000 patients at the University of California, San Francisco (UCSF) medical center. A case review of 29 rhabdomyolysis incidents in schizophrenia patients at UCSF demonstrated that 62% are idiopathic, without the use of any drug known to lead to this adverse event, suggesting a warning to physicians to watch for this unexpected risk of schizophrenia. Large-scale analysis of disease trajectories can help physicians understand potential sequential events in their patients

Gaps in Adolescent Tobacco Prevention and Counseling in Vermont

Introduction. Tobacco use remains the leading cause of preventable death in Vermont. While the Vermont Blueprint for Health includes compensation for adult tobacco counseling, it includes no specific mention of pediatric populations. Research questions: To what extent are tobacco assessment and cessation efforts occurring in the primary care setting with pediatric patients? What factors influence their practices?Methods. A 12-question electronic survey, modeled on an American Academy of Pediatrics survey, was distributed to primary care providers throughout Vermont; through the UVM departments of pediatrics, family medicine, the Vermont Medical Society and the Vermont Area Health Education Center. We received 70 completed surveys.Results. 70% of the surveyed primary care providers begin tobacco counseling at the age recommended (11 years) by the Vermont Department of Health. Only 45.71% of providers are confident in their understanding of the recommendations for adolescent health screening written in the Blueprint for Health. Additionally, only 67.1% of the providers expressed confidence in their ability to provide guidance regarding the harmful effects of E-cigarettes, compared to 92.8% feeling confident regarding conventional cigarettes. 70% of providers listed time restraints as a significant factor in their decision not to counsel adolescents on tobacco use.Discussion. The Blueprint for Health is a guiding document for provider practices that is not well understood and does not specifically include pediatric tobacco prevention. In an environment where youth E-cigarette use is rising, especially among adolescents, it is especially critical that physicians are confident in their counseling practices.https://scholarworks.uvm.edu/comphp_gallery/1237/thumbnail.jp

Patterns of sequence conservation in presynaptic neural genes

BACKGROUND: The neuronal synapse is a fundamental functional unit in the central nervous system of animals. Because synaptic function is evolutionarily conserved, we reasoned that functional sequences of genes and related genomic elements known to play important roles in neurotransmitter release would also be conserved. RESULTS: Evolutionary rate analysis revealed that presynaptic proteins evolve slowly, although some members of large gene families exhibit accelerated evolutionary rates relative to other family members. Comparative sequence analysis of 46 megabases spanning 150 presynaptic genes identified more than 26,000 elements that are highly conserved in eight vertebrate species, as well as a small subset of sequences (6%) that are shared among unrelated presynaptic genes. Analysis of large gene families revealed that upstream and intronic regions of closely related family members are extremely divergent. We also identified 504 exceptionally long conserved elements (≥360 base pairs, ≥80% pair-wise identity between human and other mammals) in intergenic and intronic regions of presynaptic genes. Many of these elements form a highly stable stem-loop RNA structure and consequently are candidates for novel regulatory elements, whereas some conserved noncoding elements are shown to correlate with specific gene expression profiles. The SynapseDB online database integrates these findings and other functional genomic resources for synaptic genes. CONCLUSION: Highly conserved elements in nonprotein coding regions of 150 presynaptic genes represent sequences that may be involved in the transcriptional or post-transcriptional regulation of these genes. Furthermore, comparative sequence analysis will facilitate selection of genes and noncoding sequences for future functional studies and analysis of variation studies in neurodevelopmental and psychiatric disorders

Translational Radiomics: Defining the Strategy Pipeline and Considerations for Application-Part 1: From Methodology to Clinical Implementation.

Enterprise imaging has channeled various technological innovations to the field of clinical radiology, ranging from advanced imaging equipment and postacquisition iterative reconstruction tools to image analysis and computer-aided detection tools. More recently, the advancements in the field of quantitative image analysis coupled with machine learning-based data analytics, classification, and integration have ushered us into the era of radiomics, which has tremendous potential in clinical decision support as well as drug discovery. There are important issues to consider to incorporate radiomics as a clinically applicable system and a commercially viable solution. In this two-part series, we offer insights into the development of the translational pipeline for radiomics from methodology to clinical implementation (Part 1) and from that to enterprise development (Part 2)