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Biomedical subjects

S W Harris

Publications and source records attributed to S W Harris.

5 recordsLinked to original sources
PubMed2004

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation.

We describe five female carriers of the FMR1 premutation who presented with symptoms of tremor and ataxia and who received a diagnosis of definite or probable fragile-X-associated tremor/ataxia syndrome (FXTAS). Unlike their male counterparts with FXTAS, none of the women had dementia. Females had not been reported in previous studies of FXTAS, suggesting that they may be relatively protected from this disorder. Brain tissue was available from one of the five subjects, a women who died at age 85 years; microscopic examination revealed intranuclear neuronal and astrocytic inclusions, in accord with the findings previously reported in males with FXTAS. The work-up of families with the FMR1 mutation should include questions regarding neurological symptoms in both older male and female carriers, with the expectation that females may also manifest the symptoms of FXTAS, although more subtly and less often than their male counterparts.

Adult↗
PubMed2000

Clinical involvement and protein expression in individuals with the FMR1 premutation.

Most individuals with the fragile X premutation are clinically unaffected; however, some show clinical manifestations, including learning difficulties, emotional problems, or even mental retardation. The basis of clinical involvement in these individuals is unknown. Premutation alleles are reportedly associated with normal levels of mRNA and protein (FMRP). To examine this issue in more detail, we studied six individuals with a premutation. We are reporting these cases to demonstrate a spectrum of phenotypic involvement which can be seen clinically. These cases include one individual with the premutation who has no evidence of FMR1 gene dysfunction but has mental retardation from other causes. Other cases presented here show varying degrees of FMR1 gene dysfunction as assessed by FMRP and FMR1 mRNA levels and various clinical features of fragile X. In two cases we observed a significant reduction in FMRP expression and an elevated FMR1 mRNA expression level associated with moderate cognitive deficit. Thus, the utilization of FMRP measures can be helpful in understanding for which premutation patients clinical involvement is caused by dysfunction of the FMR1 gene.

Abnormalities, Multiple↗
PubMedDate not supplied

Immediate free flap mandibular reconstruction: significance of adequate surgical margins.

The pathologic records of 182 consecutive patients who had mandible resections were reviewed to determine the incidence of positive margins in the bone specimens and the risk factors associated with positive margins. Of the 182 cases reviewed, 82 (45%) were found to have involvement of the mandible at the time of resection and four (2%) were found to have positive margins. The predominant tumor histology was squamous cell carcinoma, 148 of 182 (81%), followed in frequency by osteosarcoma 12 of 182 (7%), salivary gland tumors 13 of 182 (7%), and miscellaneous other tumors (nine of 182 (5%). Of the four tumors with positive margins, two (50%) were squamous cell carcinomas, one (25%) was an osteosarcoma, and one (25%) was a salivary gland tumor. All four tumors were large tumors that had failed to respond to previous therapy. All obviously involved the mandible at the time of presentation. This study demonstrates that the incidence of bone margin involvement after mandibulectomy is rare and predictable and that clinical selection of candidates for immediate reconstruction is reliable in preventing inappropriate use of free bone flaps in patients at risk for positive bone margins.

Adenoma, Pleomorphic↗
PubMedDate not supplied

Bringing chemical data onto the Semantic Web.

Present chemical data storage methodologies place many restrictions on the use of the stored data. The absence of sufficient high-quality metadata prevents intelligent computer access to the data without human intervention. This creates barriers to the automation of data mining in activities such as quantitative structure-activity relationship modelling. The application of Semantic Web technologies to chemical data is shown to reduce these limitations. The use of unique identifiers and relationships (represented as uniform resource identifiers, URIs, and resource description framework, RDF) held in a triplestore provides for greater detail and flexibility in the sharing and storage of molecular structures and properties.

Journal Article↗