Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

During the last 30 years the Frambu Health Centre has evolved from a summer-camp site for children with poliomyelitis to a modern information and treatment Centre for families with disabled members. Since 1976, fortnightly courses have been held for an increasing number of patients with rare, often congenital and/or hereditary disorders (anorectal anomalies, bladder extrophy, congenital heart defects, cystic fibrosis, severe diabetes, hemophilia, hip joint defects, juvenile rheumatoid arthritis, minimal brain dysfunction, muscular dystrophy, phenylketonuria, psychosis/autism, spina bifida, Huntington's chorea, osteogenesis imperfecta, retitinitis pigmentosa, a. o.). This article describes the facilities, operation, financing and staff at Frambu. An outline of the course programme is given. The contents of two research projects carried out at Frambu are described. When families with rare disorders meet for the first time, new perspectives open up. Exchange of experience and feelings, establishing lay organizations, collating and distributing information to professionals and families are some of the important results of the Frambu courses.
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PMID:Frambu Health Centre: promoting family focused care for disabled children. 622 40

Early, ideally pre-symptomatic, recognition of common diseases (e.g., heart disease, cancer, diabetes, Alzheimer's disease) facilitates early treatment or lifestyle modifications, such as diet and exercise. Sensitive, specific identification of diseases using blood samples would facilitate early recognition. We explored the potential of disease identification in high dimensional blood microRNA (miRNA) datasets using a powerful data reduction method: principal component analysis (PCA). Using Qlucore Omics Explorer (QOE), a dynamic, interactive visualization-guided bioinformatics program with a built-in statistical platform, we analyzed publicly available blood miRNA datasets from the Gene Expression Omnibus (GEO) maintained at the National Center for Biotechnology Information at the National Institutes of Health (NIH). The miRNA expression profiles were generated from real time PCR arrays, microarrays or next generation sequencing of biologic materials (e.g., blood, serum or blood components such as platelets). PCA identified the top three principal components that distinguished cohorts of patients with specific diseases (e.g., heart disease, stroke, hypertension, sepsis, diabetes, specific types of cancer, HIV, hemophilia, subtypes of meningitis, multiple sclerosis, amyotrophic lateral sclerosis, Alzheimer's disease, mild cognitive impairment, aging, and autism), from healthy subjects. Literature searches verified the functional relevance of the discriminating miRNAs. Our goal is to assemble PCA and heatmap analyses of existing and future blood miRNA datasets into a clinical reference database to facilitate the diagnosis of diseases using routine blood draws.
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PMID:Principal component analysis of blood microRNA datasets facilitates diagnosis of diverse diseases. 3250 86