Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This article reports on a 2-week trip in a motor home through the southeastern United States with an oxygen- and ventilator-dependent young woman with muscular dystrophy. The article describes the planning, implementation, and evaluation of traveling with technology. Discussed are the amount and types of equipment and supplies to take on such a trip, modification of equipment and the motor home, the roles and responsibilities of the nurses, interactions with the client and family, and legal issues. The impact of the trip on the client's behavior--which was to transform her from a passive recipient of care to an actively involved participant--is reported.
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PMID:Traveling with technology. 158 44

A trip to an outreach clinic in a 15-passenger van is presented as part of the answer to the forces negatively affecting the practice of academic medicine today. Any subspecialist in a medical center can use the model if a community can be identified that has a hospital or clinic building able to host the university group. County- or state-funded facilities are well suited to a periodic clinic, and public health nurses are well trained in their management. The Muscular Dystrophy Association is a private supporter of clinics like this, allowing specialty doctor visits close to home for patients with disabling weakness who might otherwise be excluded from our increasingly restricted health care system.
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PMID:Teaching in the field: the model of a one-day trip to an outreach clinic. 1177 51

The main function of the nuclear lamina, an intermediate filament meshwork lying primarily beneath the inner nuclear membrane, is to provide structural scaffolding for the cell nucleus. However, the lamina also serves other functions, such as having a role in chromatin organization, connecting the nucleus to the cytoplasm, gene transcription, and mitosis. In somatic cells, the main protein constituents of the nuclear lamina are lamins A, C, B1, and B2. Interest in the nuclear lamins increased dramatically in recent years with the realization that mutations in LMNA, the gene encoding lamins A and C, cause a panoply of human diseases ("laminopathies"), including muscular dystrophy, cardiomyopathy, partial lipodystrophy, and progeroid syndromes. Here, we review the laminopathies and the long strange trip from basic cell biology to therapeutic approaches for these diseases.
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PMID:Laminopathies and the long strange trip from basic cell biology to therapy. 1958 57