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Biomedical subjects

J P Lin

Publications and source records attributed to J P Lin.

101 records · Page 6Linked to original sources
PubMedDate not supplied

Genealogy construction in a historically isolated population: application to genetic studies of rheumatoid arthritis in the Pima Indian.

PURPOSE: Due to the characteristics of complex traits, many traits may not be amenable to traditional epidemiologic methods. We illustrate an approach that defines an isolated population as the "unit" for carrying out studies of complex disease. We provide an example using the Pima Indians, a relatively isolated population, in which the incidence and prevalence of Type 2 diabetes, gallbladder disease, and rheumatoid arthritis (RA) are significantly increased compared with the general U.S. population. A previous study of RA in the Pima utilizing traditional methods failed to detect a genetic effect on the occurrence of the disease. METHODS: Our approach involved constructing a genealogy for this population and using a genealogic index to investigate familial aggregation. We developed an algorithm to identify biological relationships among 88 RA cases versus 4,000 subsamples of age-matched individuals from the same population. Kinship coefficients were calculated for all possible pairs of RA cases, and similarly for the subsamples. RESULTS: The sum of the kinship coefficient among all combination of RA pairs, 5.92, was significantly higher than the average of the 4,000 subsamples, 1.99 (p < 0.001), and was elevated over that of the subsamples to the level of second cousin, supporting a genetic effect in the familial aggregation. The mean inbreeding coefficient for the Pima was 0.00009, similar to that reported for other populations; none of the RA cases were inbred. CONCLUSIONS: The Pima genealogy can be anticipated to provide valuable information for the genetic study of diseases other than RA. Defining an isolated population as the "unit" in which to assess familial aggregation may be advantageous, especially if there are a limited number of cases in the study population.

Arizona↗
PubMedDate not supplied

Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families.

PURPOSE: To examine the clinical and genetic heterogeneity of autosomal dominant optic atrophy among two unrelated central Illinois families. METHODS: Forty-three individuals from two pedigrees had complete eye examinations. Linkage analysis was performed with microsatellite markers from the region 3q28-29. RESULTS: Visual acuity in 21 affected individuals ranged from 20/25 to 20/800. Vision loss was more severe in males than females (P = 0.02). Color vision testing revealed generalized dyschromatopsia. Both visual acuity and color vision deteriorated with age. Linkage was established to chromosome 3q28-29 (LODmax = 4.68 for D3S2305). CONCLUSION: Autosomal dominant optic atrophy linked to chromosome 3q28-29 shows intrafamilial phenotypic variation as well as sex-influenced severity in two Midwestern families.

Adolescent↗
PubMedDate not supplied

Vasospasm secondary to ruptured aneurysm: assessment by digital intravenous angiography.

Digital intravenous angiography was used for the documentation and evaluation of cerebral vasospasm secondary to acute ruptured aneurysm. Attenuation of vessel caliber and/or generalized poor visualization of intracranial arteries and prolongation of circulation time were observed in seven patients with the acute clinical diagnosis of cerebral vasospasm. Posttreatment intravenous angiography demonstrated improvement in both arterial caliber and circulation time in six patients who responded to medical therapy for vasospasm. Digital intravenous angiography allowed repeat investigations of the intracranial vasculature safely and quickly without undue risk to the critically ill patient.

Cerebral Angiography↗