Biomedical subjects

Kathryn Miller

Publications and source records attributed to Kathryn Miller.

6 recordsLinked to original sources

PubMed2006

Haplotype-based association analysis of 56 functional candidate genes in the IBD6 locus on chromosome 19.

Evidence from four independent linkage studies and two meta-analyses of genome-wide data support the existence of a locus conferring susceptibility to inflammatory bowel diseases (IBD) in chromosomal region 19p. Identification of a susceptibility allele in this approximately 28.5 Mb region with over 600 genes is a formidable task. To tackle this problem, we undertook two approaches: (1) haplotype-based candidate-gene screen, and (2) evaluation of previously reported associations. For the former, we selected genes with potential implication in IBD pathogenesis based on published functional and expression data, typed SNPs, constructed haplotypes, screened for association in 180 IBD trios, and followed up preliminary associations in 343 IBD patients and 207 control individuals. Overall, we analyzed 465 SNPs, and 260 haplotypes distributed across 56 candidate genes. We found suggestive evidence of association (nominal P<0.01) with four genes (C3, FCER2, IL12RB1, and CRLF1) in a screening stage, but were unable to confirm these preliminary observations at follow-up. In the second approach, we typed four nonsynonymous polymorphisms in genes C3 (R102G and L314P) and ICAM1 (G241R and K469E) in four independent cohorts totaling 2178 IBD cases. We evaluated these data together with previously published reports for three of these variants (C3-Gly102, ICAM1-Arg241, and ICAM1-Glu469), in a meta-analysis. Our pooled meta-analysis provides compelling evidence against association of these variants with disease. Overall, we performed the most comprehensive candidate-gene association study for IBD to date. The information hereby generated constitutes a valuable resource to investigate other common genetic immune diseases, such as celiac disease.

Alleles↗

PubMed2002

Sensitivity and specificity of the functional hallux limitus test to predict foot function.

Functional hallux limitus is an underrecognized entity that generally does not produce symptoms but can result in a variety of compensatory mechanisms that can produce symptoms. Clinically, hallux limitus can be determined by assessing the range of motion available at the first metatarsophalangeal joint while the first ray is prevented from plantarflexing. The aim of this study was to determine the sensitivity and specificity of this clinical test to predict abnormal excessive midtarsal joint function during gait. A total of 86 feet were examined for functional hallux limitus and abnormal pronation of the midtarsal joint during late midstance. The test had a sensitivity of 0.72 and a specificity of 0.66, suggesting that clinicians should consider functional hallux limitus when there is late midstance pronation of the midtarsal joint during gait.

Adult↗

PubMedDate not supplied

Determinants of plantar pressures in the diabetic foot.

The aim of this study was to determine, by the use of regression analysis, the factors that are associated with the increased plantar pressure in the diabetic foot. In-shoe plantar pressure measurements using the Novel Pedar were carried out on 50 subjects with diabetes. Variables measured were age, body weight, duration of diabetes, a number of selected structural radiographic angles, soft tissue thickness, plantarflexion, and dorsiflexion strength at the ankle and first metatarsophalangeal joint, Neuropathy Symptom Score, and the Michigan Neuropathy Disability Score. Stepwise regression modelling indicates that 28% of the variability in hallux peak pressure could be explained by the first metatarsophalangeal joint range of motion and the Michigan Neuropathy Disability Score (P=.0004). The Michigan Neuropathy Disability Score explained 17% of the peak pressure under the first metatarsal head (P=.002). None of the measured variables could explain any of the variation in peak pressure plantar to the lateral forefoot. Thirty-two percent (32%) of the variability in peak pressure under the heel was explained by the Michigan Neuropathy Disability Score and age (P<.0001). Very little of the variation in the pressure time integrals could be explained by the measured variables except for 10.3% of the variation in the pressure time integral for the heel being explained by body weight. This study has shown that neuropathy-related variables play an important role in the plantar pressure under the diabetic foot. The range of motion of the first metatarsophalangeal joint is also important in determining pressures under the hallux.

Ankle Joint↗

PubMedDate not supplied

Mobilizing the vote.

Explore the source record for details and available documents.

Connecticut↗

PubMedDate not supplied

Variability of neutral-position casting of the foot.

Neutral-position casting of the foot is used for the manufacture of functional foot orthoses, and an accurate cast is widely assumed to be a prerequisite for a good orthotic device. The primary aim of this study was to determine the variability of casting between inexperienced and experienced clinicians and the variability of one experienced clinician taking multiple casts. Ten inexperienced and ten experienced clinicians took a cast of the right foot of a single subject, and a single experienced clinician took ten casts of the same foot. The frontal plane forefoot-to-rearfoot relationship of each cast was determined, and no difference was found in the mean and variances among the three groups. The range of the forefoot-to-rearfoot relationship across all groups was from 10.0 degrees everted to 6.5 degrees inverted, indicating that there is a wide range in neutral-position casting of the foot. As outcome studies have reported the successful outcomes of functional foot orthoses, this wide variability may not necessarily be a problem.

Foot↗

PubMedDate not supplied

Position of the subtalar joint axis and resistance of the rearfoot to supination.

Determination of the position of the subtalar joint axis is being more widely used clinically to facilitate the prescription of foot orthoses and the understanding of foot function, but clinical determination of the axis has not been widely investigated. The aim of this study was to determine the relationship between clinical determination of the subtalar joint axis and the amount of force needed to supinate the foot. The transverse plane position of the subtalar joint axis was determined in 47 subjects. The sagittal plane orientation of the subtalar joint axis was determined using the relative amounts of forefoot adduction and abduction obtained when the rearfoot was supinated and pronated. The amount of force needed to supinate the foot was measured using a device designed to measure resistance to supination. The only two parameters that were correlated to supination resistance of the rearfoot were body weight (r = 0.52) and the perpendicular distance from the fifth metatarsal head to the subtalar joint axis (r = 0.59). The model on which determination of the subtalar joint axis is based may not be valid, but it might help determine how much force is needed to supinate a foot using foot orthoses.

Adult↗