Biomedical subjects

K L Moser

Publications and source records attributed to K L Moser.

24 records · Page 2Linked to original sources

PubMed1997

Logistic transmission modeling for the simulated data of GAW10 problem 2.

A recently developed nonparametric method is a generalization of the transmission disequilibrium test across all alleles of a locus. This approach has been applied to Problem 2 of GAW10 and has been extended to explore the combined contribution of neighboring loci for chromosomes 1, 5, and 8. When applied to the chromosome 5 data of the first replicate of the nuclear pedigrees from Problem 2 of GAW10, the data show that four of the 25 loci obtain a probability less than 0.05. However, when combined models composed of each potentially significant marker (p < 0.05) and its nearest neighbors are considered, the combined contributions of G14 and G15 are the most significant (p = 0.007). Consequently, the region near G14 and G15 is identified as the best candidate region in chromosome 5 for linkage to the common disease.

Case-Control Studies↗

PubMed1995

Logistic transmission modeling of simulated data.

A nonparametric method for linkage analysis has been developed and applied to the Problem 1 data set of the Genetic Analysis Workshop 9. Basically, the univariate matched pair strategy of the transmission disequilibrium test has been adapted to multivariate modeling using the conditional logistic function. After setting the critical value for significance at p < or = 0.0001, models at only D5G23 and D1G31 appear to be significant (p < 10(-7)). Logistic transmission modeling is a powerful method for establishing linkage by disequilibrium.

Alleles↗

PubMed1994

Systemic lupus erythematosus: considerations for a genetic approach.

There is a powerful evidence suggesting that etiology and pathogenesis of systemic lupus erythematosus has both genetic and environmental components. Unfortunately, understanding the genetics of lupus has been impeded by knowing the pattern of inheritance. Indeed, a complex mode of inheritance for the lupus disease phenotype is suggested by the known characteristics of this disorder. Twenty-five multiplex pedigrees for lupus have been enrolled and have been used to evaluate power to reveal linkage. The power to find linkage in these pedigrees is greater for autosomal recessive than for autosomal dominant modes of inheritance. Once 100 similar pedigrees are available for analysis our results predict that linkage is likely to be present for genetic models with relatively relaxed requirements. At loci operating by autosomal recessive inheritance linkage should be detectable despite genetic homogeneity as low as 40% and penetrance as low as 50%. For loci operating by autosomal dominant inheritance genetic homogeneity must be 60% or more when penetrance is as low as 50% to be able to establish linkage. Available preliminary data are also consistent with a possible genetic linkage of Fc gamma RIIIPMN with lupus in American Black pedigrees multiplex for lupus.

Alleles↗

PubMed1990

[Hearing disorders after cranial trauma].

Oto-audiograms were taken from 50 patients following skull and brain injuries. 22 of them (44%) showed a deterioration of their hearing which was of traumatic origin with high probability. 10 of them (20%) had deterioration of their hearing which was most questionably caused by the trauma. Between 1 and 1 1/2 years later 19 from 22 respectively 9 from 10 patients were reexamined all together. There were 9 improvements, 5 deteriorations and 10 unchanged oto-audiograms. As many injured people do not realize a one-sided deterioration of their hearing, oto-audiograms should routinely be made after head and brain injuries. The secondary deteriorations observed, demonstrate the necessity of otologic aftercare.

Adolescent↗

PubMed1989

[Use of Biofix C for stabilizing medial ankle fractures].

This report deals with the surgical technique and the results of stabilisation of 10 medial ankle fractures using Biofix C rods. They are cylindrical, biodegredable rods. Biorod is constructed of self-reinforced composite material. It consists of polyglycolide matrix with polyglcolide fibers. The bending strength of the material before operation is more than 200 MPa, exceeding 20-30 times the strength of cancellous bone. The material looses its mechanical strength in hydrolitic conditions during 5-6 weeks and dissolves totally during the following months. Our experience with a self developed guiding tool for the implantation of the Biorod is presented. All fractures healed without any notable complications. As of the 8th day full weight bearing was allowed in a below knee plaster cast for 6 weeks.

Adolescent↗

PubMedDate not supplied

Heredity and systemic lupus erythematosus: dissecting a complex genetic disease.

The etiology of SLE appears to be exceedingly complex and possibly heterogeneous, with genetics and environment both making substantial contributions. A schematic representation of potential mechanisms is depicted in Figure 2. We may not fully understand the pathogenesis of this disease until we unravel the relative contributions of each component to the development of SLE. While genetic mechanisms involved in SLE remain obscure, we now have available elegant laboratory techniques for analysis of genetic loci as well as computer technology which permits simulation and analysis of the transmission of complex genetic traits among multiple families and demographic groups. What remains is the painstaking task of collecting families multiplex for SLE and analyzing multiple sets of clinical, serologic, and genetic data within and between these pedigrees. Such studies are currently underway and will hopefully increase understanding of this enigmatic and complex autoimmune disorder.

Female↗