Sorsby's familial pseudo-inflammatory macular dystrophy.
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Biomedical subjects
Publications and source records attributed to D C Wallace.
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Multiple self-healing squamous epithelioma is determined by a rare autosomal allele in heterozygous state and affects both sexes with approximately equal severity. The lesions are found more frequently on exposed areas of skin and their distribution correspondingly differs between the sexes. Reliable information on 62 cases has been obtained in the west of Scotland. This number of patients is more than twice that recorded in the world literature. It seems possible that the Scottish cases have arisen from a single mutation occurring before 1790.
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Deletions of the mitochondrial DNA (mtDNA) have been shown to accumulate with age in a variety of species regardless of mean or maximal life span. This implies that such mutations are either a molecular biomarker of senescence or that they are more causally linked to senescence itself. One assay that can be used to detect these mtDNA mutations is the long-extension polymerase chain reaction assay. This assay amplifies approximately 16 kb of the mtDNA in mammalian mitochondria and preferentially amplifies mtDNAs that are either deleted or duplicated. We have applied this assay to the aging human brain and found a heterogeneous array of rearranged mtDNAs. In addition, we have developed in situ polymerase chain reaction to detect mtDNA within individual cells of both the mouse and the human brain as a first step in identifying and enumerating cells containing mutant mtDNAs in situ.
Variation in the human mitochondrial DNA (mtDNA) sequence has been extensively analysed using restriction fragment length polymorphisms (RFLPs). MtDNA RFLPs have previously been attributed to nucleotide changes within restriction endonuclease recognition sites or to small insertion-deletion mutations. We now report that RFLPs detected by polyacrylamide gel electrophoresis can also result from single nucleotide substitutions which alter the mobility of small- to medium-sized restriction fragments that incorporate the sequence. We have defined the mutation responsible at two loci and have identified several possible additional loci. When screening human mtDNAs with multiple restriction endonucleases, such mutations can be misidentified as insertion-deletion mutations or counted as multiple polymorphic restriction sites. This can lead to errors in constructing restriction maps and estimating sequence diversity.
This article discusses the roles of various interdisciplinary team members, such as physicians, dietitians, physical therapists, social workers, activity therapists, and nursing staff, whose combined expertise is necessary to prevent hip fractures in nursing homes. To be successful, these professionals must be aware of and respect the roles of all team members, consistently identify the risk factors associated with hip fracture, and implement, evaluate, and modify interventions on an individual basis.