RESUMO
Despite over 3,000 articles published on dystrophin in the last 15 years, the reasons underlying the progression of the human disease, differential muscle involvement, and disparate phenotypes in different species are not understood. The present experiment employed a screen of 12,488 mRNAs in 16-wk-old mouse mdx muscle at a time when the skeletal muscle is avoiding severe dystrophic pathophysiology, despite the absence of a functional dystrophin protein. A number of transcripts whose levels differed between the mdx and human Duchenne muscular dystrophy were noted. A fourfold decrease in myostatin mRNA in the mdx muscle was noted. Differential upregulation of actin-related protein 2/3 (subunit 4), beta-thymosin, calponin, mast cell chymase, and guanidinoacetate methyltransferase mRNA in the more benign mdx was also observed. Transcripts for oxidative and glycolytic enzymes in mdx muscle were not downregulated. These discrepancies could provide candidates for salvage pathways that maintain skeletal muscle integrity in the absence of a functional dystrophin protein in mdx skeletal muscle.
Assuntos
Músculo Esquelético/fisiologia , Distrofia Muscular Animal/genética , Distrofia Muscular Animal/fisiopatologia , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/fisiopatologia , Animais , Criança , Distrofina/genética , Humanos , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Endogâmicos mdx , Análise de Sequência com Séries de Oligonucleotídeos , RNA Mensageiro/análise , Regeneração/genéticaRESUMO
The Veterinary Medical Database (VMDB) is a repository containing abstracts of over six million case records from 24 veterinary colleges throughout the U.S. and Canada. These case record abstracts, spanning almost 40 years, represent a valuable resource for outcomes analysis and hypothesis generation. Database records are currently encoded using the Standard Nomenclature of Veterinary Diseases and Operations (SNVDO), a precoordinated, hierarchical coding system. SNVDO has not been updated since 1977 and is outdated and inadequate to express the current state of medical knowledge. We undertook to manually map a subset of the SNVDO codes to a modern medical nomenclature, SNOMED-RT (Version 1.0), and to evaluate the quality of the resultant mappings and the acceptability of the mapping method used. We found that the distribution of frequency of use of the SNVDO codes in the VMDB records is highly skewed, with a small number of codes accounting for a large percentage of the records. We targeted our mapping efforts on that subset of codes. We found that our targeted manual mapping of the SNVDO codes to SNOMED-RT codes was feasible and produced good quality results, based on separate evaluations performed by two domain experts. However, a significant proportion of the SNVDO codes could not be mapped to a single SNOMED-RT concept, necessitating construction of multiple-code post-coordinated terms. Additionally, this manual mapping was very labor-intensive.
Assuntos
Bases de Dados Bibliográficas/normas , Terminologia como Assunto , Medicina Veterinária/métodos , Vocabulário Controlado , Algoritmos , Controle de Formulários e Registros/normasRESUMO
In bringing a controlled vocabulary to a health information system, it is important to include those terms commonly used by those who must routinely input data to the system. We have developed a methodology whereby we can obtain "free text" descriptions of diagnoses entered by system users. We then sort those terms/concepts by system and find the appropriate "atomic" term(s). The terms are also being submitted to domain experts for appropriateness and fidelity. These concepts are then coded in an international coding system (SNOMED International) to eventually be entered into the controlled "pick list" of terms available for users to enter.
