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N Bass

Publications and source records attributed to N Bass.

26 records · Page 2Linked to original sources

An examination of linkage of schizophrenia and schizoaffective disorder to the pseudoautosomal region (Xp22.3)

We investigated linkage between schizophrenia and the loci DXYS14, DXYS17, and MIC2 within the pseudoautosomal region in 85 families with two or more siblings suffering from schizophrenia or schizoaffective disorder. A maximum lod score of 2.44 was reached at MIC2, with a dominant model of inheritance at a recombination fraction of 0.367 in females and 0.046 in males (a F:M sex ratio > 1, i.e. opposite to that expected with a pseudoautosomal locus). Evidence consistent with linkage (P = 0.01) was also obtained with a sibling pair analysis at the MIC2 locus. These data do not support (although they do not definitively exclude) a locus within the pseudoautosomal region; they are consistent with the presence of a gene that predisposes to schizophrenia in the sex-specific regions of the X and Y chromosomes.

Adult↗

Male siblings with schizophrenia share alleles at the androgen receptor above chance expectation.

In families that included two or more siblings with schizophrenia or schizo-affective disorder male-male pairs were found to share alleles at the androgen receptor (AR) gene (in Xq11.2-q12) above chance expectation (p < 0.003); female-female and mixed sex pairs showed no such tendency. The findings are compatible with X-Y linkage or with an X-linked contribution to liability in males.

Alleles↗

Comparison of five assays for immune complexes in the rheumatic diseases. An assessment of their validity for rheumatoid arthritis.

Clinical assessment (disease activity, severity, and extraarticular manifestations) of 101 rheumatoid arthritis patients was correlated with several laboratory tests, including 5 immune complex assays: the bovine conglutinin, 125I-Clq binding, monoclonal rheumatoid factor inhibition, Raji cell, and staphylococci binding assays. Elevated disease activity indices were most closely associated with the presence of immune complexes detected by the 125I-Clq and staphylococci binding assays. There were significant but weak correlations between the level of disease activity and the level of immune complexes as measured by the bovine conglutinin, 125I-Clq binding, Raji cell, and staphylococci binding assays. Articular disease severity, as measured by anatomic stage, was discriminated by the bovine conglutinin, monoclonal rheumatoid factor inhibition, and staphylococci binding assays. Extraarticular manifestations were best discriminated by the Raji cell and staphylococci binding assays. We concluded that the sensitivity, specificity, predictive value, and overlap of the associations were not sufficient to warrant their wide use for the diagnosis and management of rheumatoid arthritis in individual patients. Conversely, the 125I-Clq and staphylococci binding assays were as good as the erythrocyte sedimentation rate and the IgG rheumatoid factor test (the 2 best of many examined) in assessing disease activity. Further prospective studies with these assays will determine their usefulness in following rheumatoid arthritis for a prolonged period.

Antigen-Antibody Complex↗

Is pseudomembranous colitis infectious?

A cluster of eight patients in two adjacent hospital wards acquired acute diarrhoea within a period of 11 days. All their stool samples contained Clostridium difficile toxin and C. difficile was isolated in every case. Three patients had rectal biopsy findings compatible with pseudomembranous colitis (PMC). All the patients responded to treatment with oral vancomycin. Until the possibility of PMC being acquired by cross-infection is clarified such patients should be nursed in isolation with strict enteric precautions.

Adult↗

Laser therapy of rheumatoid arthritis.

Thirty people with classical or definite rheumatoid arthritis received laser exposure to a Q-switch neodymium laser that operated at 1.06 micrometer with an output of 15 joules/cm2 for 30 nsec. One hand was lased at the proximal interphalangeal (PIP) and metacarpal phalangeal (MCP) joints, whereas the other hand was sham lased. The patient, physician, and occupational therapy evaluators did not know which hand was being lased. Twenty-one patients noted improvement of both their MCP and PIP joints of both hands during laser therapy. Twenty-seven noted improvement of their PIP joints and 26 noted improvement of the MCP joints during therapy. Heat, erythema, pain, swelling, and tenderness all improved with time in both hands, but the lased hand had more significant improvement in erythema and pain. There was also significant improvement in grasp and tip pressure on the lased side. The level of circulating immune complexes as measured by platelet aggregation decreased during lasing. The improvement may be related to laser exposure. The exact role that laser radiation has upon rheumatoid arthritis and its mechanism of action remain to be elucidated.

Adult↗