The Human Disease Ontology 2022 update.

The Human Disease Ontology (DO) (www.disease-ontology.org) database, has significantly expanded the disease content and enhanced our userbase and website since the DO\u27s 2018 Nucleic Acids Research DATABASE issue paper. Conservatively, based on available resource statistics, terms from the DO have been annotated to over 1.5 million biomedical data elements and citations, a 10× increase in the past 5 years. The DO, funded as a NHGRI Genomic Resource, plays a key role in disease knowledge organization, representation, and standardization, serving as a reference framework for multiscale biomedical data integration and analysis across thousands of clinical, biomedical and computational research projects and genomic resources around the world. This update reports on the addition of 1,793 new disease terms, a 14% increase of textual definitions and the integration of 22 137 new SubClassOf axioms defining disease to disease connections representing the DO\u27s complex disease classification. The DO\u27s updated website provides multifaceted etiology searching, enhanced documentation and educational resources

The DO-KB Knowledgebase: a 20-year journey developing the disease open science ecosystem.

In 2003, the Human Disease Ontology (DO, https://disease-ontology.org/) was established at Northwestern University. In the intervening 20 years, the DO has expanded to become a highly-utilized disease knowledge resource. Serving as the nomenclature and classification standard for human diseases, the DO provides a stable, etiology-based structure integrating mechanistic drivers of human disease. Over the past two decades the DO has grown from a collection of clinical vocabularies, into an expertly curated semantic resource of over 11300 common and rare diseases linking disease concepts through more than 37000 vocabulary cross mappings (v2023-08-08). Here, we introduce the recently launched DO Knowledgebase (DO-KB), which expands the DO\u27s representation of the diseaseome and enhances the findability, accessibility, interoperability and reusability (FAIR) of disease data through a new SPARQL service and new Faceted Search Interface. The DO-KB is an integrated data system, built upon the DO\u27s semantic disease knowledge backbone, with resources that expose and connect the DO\u27s semantic knowledge with disease-related data across Open Linked Data resources. This update includes descriptions of efforts to assess the DO\u27s global impact and improvements to data quality and content, with emphasis on changes in the last two years

The genetic landscape of high-risk neuroblastoma

Neuroblastoma is a malignancy of the developing sympathetic nervous system that often presents with widespread metastatic disease, resulting in survival rates of less than 50%1. To determine the spectrum of somatic mutation in high-risk neuroblastoma, we studied 240 cases using a combination of whole exome, genome and transcriptome sequencing as part of the Therapeutically Applicable Research to Generate Effective Treatments (TARGET) initiative. Here we report a low median exonic mutation frequency of 0.60 per megabase (0.48 non-silent), and remarkably few recurrently mutated genes in these tumors. Genes with significant somatic mutation frequencies included ALK (9.2% of cases), PTPN11 (2.9%), ATRX (2.5%, an additional 7.1% had focal deletions), MYCN (1.7%, a recurrent p.Pro44Leu alteration), and NRAS (0.83%). Rare, potentially pathogenic germline variants were significantly enriched in ALK, CHEK2, PINK1, and BARD1. The relative paucity of recurrent somatic mutations in neuroblastoma challenges current therapeutic strategies reliant upon frequently altered oncogenic drivers

Vaginal Foreign Bodies and Child Sexual Abuse: An Important Consideration

Vaginal foreign bodies are a complaint occasionally encountered in pediatric clinics and emergency departments, and when pediatric patients present with a vaginal foreign body sexual abuse may not be considered. We describe two children with vaginal foreign bodies who were found to have been sexually abused. Each child had a discharge positive for a sexually transmitted infection despite no disclosure or allegation of abuse. We recommend that all pre-pubertal girls who present with a vaginal foreign body should be considered as possible victims of sexual abuse and should receive a sexual abuse history and testing for sexually transmitted infections

Vaginal Foreign Bodies and Child Sexual Abuse: An Important Consideration

Vaginal foreign bodies are a complaint occasionally encountered in pediatric clinics and emergency departments, and when pediatric patients present with a vaginal foreign body sexual abuse may not be considered. We describe two children with vaginal foreign bodies who were found to have been sexually abused. Each child had a discharge positive for a sexually transmitted infection despite no disclosure or allegation of abuse. We recommend that all pre-pubertal girls who present with a vaginal foreign body should be considered as possible victims of sexual abuse and should receive a sexual abuse history and testing for sexually transmitted infections. [West J Emerg Med. 2013;14(5):437–439.

Vaginal Foreign Bodies and Child Sexual Abuse: An Important Consideration

Vaginal foreign bodies are a complaint occasionally encountered in pediatric clinics and emergency departments, and when pediatric patients present with a vaginal foreign body sexual abuse may not be considered. We describe two children with vaginal foreign bodies who were found to have been sexually abused. Each child had a discharge positive for a sexually transmitted infection despite no disclosure or allegation of abuse. We recommend that all pre-pubertal girls who present with a vaginal foreign body should be considered as possible victims of sexual abuse and should receive a sexual abuse history and testing for sexually transmitted infections. [West J Emerg Med. 2013;14(5):437–439.

A pilot study to evaluate self initiated computer patient education in children with acute asthma in pediatric emergency department

Objective: The goal of the study was to investigate the feasibility and acceptance of an interactive computer assisted asthma education program in the pediatric emergency department (ED) for children with acute asthma exacerbations. Methods: A pre-post non- randomized study was designed for children age 3 to 18 years at the University of Maryland Hospital for Children, Baltimore. An interactive computer-assisted educational program, Patient Education and Motivation Tool (PEMT), was designed using learning theories, to teach children about asthma and its management. Sixty nine children were enrolled during an ED visit for acute asthma between May 2006 and November 2006. Socio-demographic and asthma knowledge information was gathered using questionnaires. An attitudinal survey was used to assess the acceptance of the program. Results: Eighty one percent (n=56) of the children found PEMT very easy to use, and seventy five percent (n=52) agreed to use it in near future. There was a significant thirteen percent improvement in knowledge of asthma after the completion of this computer assisted asthma education program (p=0.01). Conclusion: PEMT is highly acceptable and is an effective way to provide asthma education in an ED setting. © 2007 IOS Press and the authors. All rights reserved