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Biomedical subjects

W J Turner

Publications and source records attributed to W J Turner.

At least 19 recordsLinked to original sources
PubMed1998

Ménière disease caused by an anomalous vein of the vestibular aqueduct.

The precise cause of Ménière disease remains unclear. Multiple causes have been proposed with most experimental evidence pointing to impaired fluid resorption by the endolymphatic duct and sac as the final common pathway in development of hydrops. We report a unique case of Ménière disease secondary to compression of the endolymphatic duct and sac by an anomalous vein of the vestibular aqueduct. The resulting mechanical obstruction led to excessive accumulation of endolymph with clinical signs of Ménière disease. We review the literature and discuss proposed pathogenesis of disease. The finding of this anomalous vein provides further evidence that anatomical obstruction of the endolymphatic duct and sac may lead to Ménière-like symptoms. This unique example of an anatomical variant offers additional insight into the pathophysiology of endolymphatic hydrops.

Endolymph↗
PubMed1995

Homosexuality, type 1: an Xq28 phenomenon.

Despite the absence of phenotypic manifestations in alternating generations characteristic of X-linked disorders, a thesis is presented that a major type of Kinsey grades 5 and 6 male homosexuality is determined by a gene in the Xq28 region. A total of 133 families in 78 kinshps of male and female homosexual probands, in addition to 116 families (including those of 40 famous homosexuals) from the literature, revealed an unbalanced secondary sex ratio in the maternal generation of male, but not of female, homosexuals. On the maternal side, in this study, the ratio of all uncles to all aunts of 90 males homosexuals was 132/209, chi 2 = 8.52, p = 0.004. On the maternal side for the total of all sources, the ratio of uncles to aunts of male homosexuals was 241/367, chi 2 = 13.20; p < 0.0001. The male/female ratio of the total number of maternal sibships bearing homosexuals (310/628: 0.491) was a measure of fetal wastage of the mothers' male sibs; 49%. This ratio was very close to that of the total number of children born to fathers affected with any one of nine Xq28-linked male semilethal conditions (255/508: ratio 0.556); for the difference between the two populations chi 2 = 0.859, p = 0.354. The male/female ratio of the total number of children born to female carriers of any one of these same conditions (1,232/1,062: ratio 1.16), chi 2 = 13.8 p < or = 0.0001, is close to that of the total number of children in homosexual sibships: 511/413, chi 2 = 10.4, p = 0.005. Between the number of children born to Xq28 mothers and to those born of mothers of homosexuals chi 2 = 0.581, p = 0.446. One may readily surmise that the maternal influence so often related to homosexuality may lie in the mother being a genetic carrier, with traits thereto associated. In this study, 65% of the mothers of homosexuals had no or only one live-born brother. Additional support for a genetic hypothesis is found in the occurrence of multiple instances--almost exclusively among maternal relatives--of infertility, spontaneous abortions, miscarriages, stillbirths, remaining single past age 30, and suicide. Of 109 male and 43 female homosexual index cases in the present series there were 6 instances of brother/sister homosexual sibships.(ABSTRACT TRUNCATED AT 400 WORDS)

Female↗
PubMed1990

Human neuroblastoma cell growth in xenogeneic hosts: comparison of T cell-deficient and NK-deficient hosts, and subcutaneous or intravenous injection routes.

We have examined two features of neuroblastoma cells that had not been well-characterized in a xenogeneic model: The cells display unusual immunologic properties in other experimental systems, and the original tumors display widespread and characteristic patterns of metastasis. To determine the most appropriate immunodeficient host for primary tumor growth, T cell-deficient nude mice, NK-deficient beige mice, beige-nudes, and controls were injected with the well-characterized line CHP-100. To define the pattern of tumor spread, complete autopsies were performed following subcutaneous, intraperitoneal and intravenous injections. CHP-100 consistently formed subcutaneous tumors in T cell-deficient mice (nude and beige-nude), but not in T cell-competent mice (beige, heterozygous nu/+ and bg/+, or wild-type). The growth rate and final size of the subcutaneous tumors were not greater in beige-nudes than in nudes. All mice showed early CHP-100 cell death after subcutaneous injection; the nature of the immunodeficiency was more relevant for the surviving subpopulation. Widespread dissemination was seen following intravenous injection, particularly in beige-nudes. Aspects of the growth patterns were appropriate to the tumor of origin. The behavior in immunodeficient mice suggests that T cells can play a role in controlling the growth of these cells; the next steps will be to define the effector mechanisms, and to determine if they can be exploited for human patients. The hematogenous spread following intravenous injection suggests that insights into the control of blood-borne tumor may also come from further study of this model.

Animals↗
PubMed1983

BPD2. An autosomal dominant form of bipolar affective disorder.

Seven pedigrees with bipolar affective disorder (BPD2) have been found to show a pattern consistent with autosomal dominant genetic inheritance in linkage with, but distal to, HLA on the short arm of chromosome 6. Segregation analysis of subjects by narrow criteria yielded lod score 8.02 at theta = 0.15. Four pedigrees of three to five generations contributed most to the total score. Note is made of high concordance of marker HLA haplotype in affected sibs.

Adult↗
PubMed1982

The effects of requisite assumptions on linkage analyses of manic-depressive illness with HLA.

Two large pedigrees with a bipolar proband were selected on the basis of compatibility with the hypothesis of autosomal dominant inheritance of a depressive taxon. We compared the results of linkage analyses of the depressive taxon with HLA and GLO in these pedigrees when penetrance function, diagnostic classification, and HLA haplotype frequencies were varied. The analyses show that all three types of assumptions affect the lod scores and likelihoods obtained. Using the most favorable assumptions, we obtain a lod score of 3.901 at theta = 0.10 for HLA with the depressive taxon. This lod score would conventionally be considered strong evidence of linkage of a subtype of manic-depressive illness with HLA but the dependence of these results on several untested assumptions suggests more cautious interpretation. Nonetheless, we feel it does represent evidence in favor of linkage because this high a lod score cannot readily be dismissed as statistical artifact. The results point out the importance of careful delineation of the assumptions made in linkage analyses of complex disorders, including the diagnostic criteria, marker allele frequencies, and age-of-onset function used.

Adolescent↗