Biomedical subjects

Christine M Taylor

Publications and source records attributed to Christine M Taylor.

3 recordsLinked to original sources

PubMed2007

Complement factor H polymorphism p.Tyr402His and cuticular Drusen.

OBJECTIVE: To determine the histidine frequency in patients with the cuticular drusen phenotype of age-related macular degeneration (AMD). METHODS: Fifty individuals were identified who met the criteria for the cuticular drusen phenotype using a standard threshold photograph. We genotyped DNA samples using a polymerase chain reaction-based restriction digest assay. Seven hundred individuals with typical AMD and 252 controls were also genotyped. Fisher exact test was used to analyze the significance of allele frequency differences. RESULTS: The histidine variant was present in 70% (frequency +/- SE, 0.70 +/- 0.05) of the cuticular cohort, 55% (frequency +/- SE, 0.55 +/- 0.01) of the more typical AMD cases, and 34% (frequency +/- SE, 0.34 +/- 0.02) of controls. The association between the cuticular drusen phenotype and the histidine allele was highly significant (P = .003; odds ratio, 2.0; 95% confidence interval, 1.21-3.07; vs AMD cases P<.001; odds ratio 4.54; 95% confidence interval, 2.79-7.50; vs controls). Genotype distribution between the 3 groups was similarly significant (P<.001). CONCLUSION: The cuticular drusen phenotype is highly associated with the Tyr402His variant of the complement factor H (CFH) gene. The significantly higher histidine allele frequency in this group compared with the typical AMD cohort suggests that the complement cascade may play a greater role in the pathogenesis of the cuticular drusen subtype than in AMD as a whole. CLINICAL RELEVANCE: The c.1204T>C, p.Tyr402His allelic variant in the CFH gene is associated with a 3-fold increased risk for AMD. A high frequency of the histidine allele has also been noted in patients with membranoproliferative glomerulonephritis type II.

Adult↗

PubMed2006

Novel de novo mutation in a patient with Best macular dystrophy.

OBJECTIVE: To report a novel de novo vitelliform macular dystrophy (VMD2) mutation in a patient with Best macular dystrophy. METHODS: Best-corrected visual acuity, dilated fundus examination, and electro-oculography were performed in a patient with Best macular dystrophy and his parents. Both the patient and his parents also had blood samples drawn, and their DNA was analyzed by direct genomic sequencing. RESULTS: A heterozygous VMD2 gene missense mutation in exon 2 (Thr6Ala [ACA>GCA]) was identified in the proband. This mutation was not present in his clinically unaffected parents. CONCLUSIONS: A novel de novo mutation in the VMD2 gene was found in a patient whose phenotype and electro-oculographic findings were characteristic of Best macular dystrophy, whereas both parents were phenotypically and genetically unaffected. The findings in this family document that a de novo mutation needs to be considered when an isolated family member is found to have a Best disease phenotype.

Bestrophins↗

PubMed2005

The minimally conscious state and recovery potential: a follow-up study 2 to 5 years after traumatic brain injury.

OBJECTIVE: To document recovery in persons who were in the minimally conscious state (MCS) for at least 1 month after traumatic brain injury (TBI). DESIGN: Patient series. SETTING: Participants who had been discharged from an inpatient rehabilitation unit. PARTICIPANTS: Eighteen people with TBI and their relatives. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Western Neuro Sensory Stimulation Profile, Disability Rating Scale (DRS), FIM instrument, Dementia Rating Scale, and Sydney Psychosocial Reintegration Scale (SPRS). RESULTS: Level of functioning at follow-up varied from extremely severe disability or greater on the DRS (n=4) to mild disability (n=1). These outcomes were corroborated by results of the FIM and the Dementia Rating Scale. All participants experienced some (44%) or major (56%) change in their level of psychosocial functioning on the SPRS compared with their preinjury level. There were no significant correlations between duration of time in the MCS and outcome on FIM, DRS, or SPRS. CONCLUSIONS: These results highlight the heterogeneity of outcome even after a prolonged duration of MCS after TBI. A large proportion of the patients was functionally independent in basic daily activities, although all experienced residual impairments and disabilities. The low correlation coefficients between duration of MCS and the outcome measures suggest that prognostic statements based on length of time a person is in the MCS cannot be made with confidence.

Adult↗