![]() ![]() (2012) Otitis Media in a New Mouse Model for CHARGE Syndrome with a Deletion in the Chd7 Gene. This is the first mouse model of CHARGE syndrome reported to show otitis media with effusion and it will be valuable for studying the etiology of otitis media and other symptoms in CHARGE syndrome.Ĭitation: Tian C, Yu H, Yang B, Han F, Zheng Y, Bartels CF, et al. Gene expression profiling revealed up-regulation of Muc5ac, Muc5b and Tgf-β1 transcripts, the products of which are involved in mucin production and TGF pathway regulation. These mice also exhibit morphological alteration in the Eustachian tubes, dysregulation of epithelial proliferation, and decreased density of middle ear cilia. In this study, we report a mouse model with a spontaneous deletion mutation in the Chd7 gene and with chronic otitis media of early onset age accompanied by hearing loss. Although otitis media is common in human CHARGE syndrome patients, it has not been reported in mouse models of CHARGE syndrome. Otitis media can occur in normal individuals with no other symptoms or syndromes, but it is often seen in individuals clinically diagnosed with genetic diseases such as CHARGE syndrome, a complex genetic disease caused by mutation in the Chd7 gene and characterized by multiple birth defects. Health Literacy Online: A Guide for Simplifying the User Experience.Otitis media is a middle ear disease common in children under three years old. Department of Health and Human Services, Office of Disease Prevention and Health Promotion. Washington, DC: The National Academies Press. National Academies of Sciences, Engineering, and Medicine. Improving newborn screening laboratory test ordering and result reporting using health information exchange. Reference: Data from the Newborn Screening Coding and Terminology Guide is available here.Reference: MedGen Data Downloads and FTPĭata from the National Library of Medicine's Newborn Screening Coding and Terminology Guide is used to note if a disease is included on Federal or State recommendations for newborn screening testing.Kohler S, Gargano M, Matentzoglu N, et al., The Human Phenotype Ontology in 2021, Nucleic Acids Research, Volume 49, Issue D1, 8 January 2021, Pages D1207–D1217.ĭata from the National Center for Biotechnology Information's MedGen is used to provide genetic testing information available for a disease. Orphanet is an online database of rare diseases and orphan drugs. ![]() Reference: Access aggregated data from Orphanet at Orphadata.Reference: UMLS Vocabulary Standards and Mappings Downloadsĭata from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.The National Library of Medicine's Unified Medical Language System (UMLS) is used to classify and organize diseases and disease categories. Learn more about the different types of clinical studies, consent forms, questions you should ask before participating in clinical studies, and the difference between research and medical treatment. There are two main types of clinical studies: Clinical studies are medical research involving people as participants. Observational studies involve recording changes over time among a specific group of people in their natural settings.Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.Sometimes a person may have a pathogenic variant for an autosomal dominant disease and show no signs or symptoms of the disease.Ĭlinical studies are medical research involving people as participants. Typically, children who inherit a dominant variant will have the disease, but they may be more or less severely impacted than their parent. In other cases, the disease occurs because of a new pathogenic variant (de novo) in the causal gene and there is no family history of the disease.Įach child of an individual with an autosomal dominant disease has a 50% (1 in 2) chance of inheriting the variant and the disease. In some cases, a person inherits the pathogenic variant from a parent who has the genetic disease. Mutation is an older term that is still sometimes used to mean pathogenic variant. Dominant means that only one copy of the responsible gene (causal gene) must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Genes, like chromosomes, usually come in pairs. Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). ![]()
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