RYR1 myopathy complicated by RSV bronchiolitis requiring intubation leading to posthypoxic leukoencephalopathy in a 4 year-old.

Central core disease due to RYR1 mutations is a rare heterogeneous myopathy characterized by skeletal muscle weakness. In light of both the rarity of presentation as well as the relatively broad spectrum of clinical phenotypes, there is a need to report treatment strategies for common complications of this condition. In this case, we outline the ICU management of a 4 year-old girl with central core disease caused by RYR1 mutation who was hospitalized due to respiratory syncytial virus (RSV) bronchiolitis leading to respiratory failure. Her hospital stay was complicated by multiple failed extubations, hospital infections, and post-anoxic leukoencephalopathy.&nbsp

Large expert-curated database for benchmarking document similarity detection in biomedical literature search

Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents that cover a variety of research fields such that newly developed literature search techniques can be compared, improved and translated into practice. To overcome this bottleneck, we have established the RElevant LIterature SearcH consortium consisting of more than 1500 scientists from 84 countries, who have collectively annotated the relevance of over 180 000 PubMed-listed articles with regard to their respective seed (input) article/s. The majority of annotations were contributed by highly experienced, original authors of the seed articles. The collected data cover 76% of all unique PubMed Medical Subject Headings descriptors. No systematic biases were observed across different experience levels, research fields or time spent on annotations. More importantly, annotations of the same document pairs contributed by different scientists were highly concordant. We further show that the three representative baseline methods used to generate recommended articles for evaluation (Okapi Best Matching 25, Term Frequency-Inverse Document Frequency and PubMed Related Articles) had similar overall performances. Additionally, we found that these methods each tend to produce distinct collections of recommended articles, suggesting that a hybrid method may be required to completely capture all relevant articles. The established database server located at https://relishdb.ict.griffith.edu.au is freely available for the downloading of annotation data and the blind testing of new methods. We expect that this benchmark will be useful for stimulating the development of new powerful techniques for title and title/abstract-based search engines for relevant articles in biomedical research.Peer reviewe

Additional file 1: of Interleukin-27: a novel biomarker in predicting bacterial infection among the critically ill

Test characteristics for predicting bacterial blood culture-positive bacterial infection. Test characteristics, including sensitivity, specificity, and positive and negative predictive values of the subset of patients defined as infection through the presence of positive bacterial blood cultures. (DOCX 12 kb