A genome-wide search for schizophrenia susceptibility genes

We completed a systematic genome-wide search for evidence of loci linked to schizophrenia using a collection of 70 pedigrees containing multiple affected individuals according to three phenotype classifications: schizophrenia only (48 pedigrees; 70 sib-pairs); schizophrenia plus schizoaffective disorder (70 pedigrees; 101 sib-pairs); and a broad category consisting of schizophrenia, schizoaffective disorder, paranoid or schizotypal personality disorder, psychosis not otherwise specified (NOS), delusional disorder, and brief reactive psychosis (70 pedigrees; 111 sib-pairs). All 70 families contained at least one individual affected with chronic schizophrenia according to DSM-III-R criteria. Three hundred and thirty-eight markers spanning the genome were typed in all pedigrees for an average resolution of 10.5 cM (range, 0-31 cM) and an average heterozygosity of 74.3% per marker. The data were analyzed using multipoint nonparametric allele-sharing and traditional two-point lod score analyses using dominant and recessive, affecteds-only models. Twelve chromosomes (1, 2, 4, 5, 8, 10, 11, 12, 13, 14, 16, and 22) had at least one region with a nominal P value <0.05, and two of these chromosomes had a nominal P value <0.01 (chromosomes 13 and 16), using allele-sharing tests in GENEHUNTER. Five chromosomes (1, 2, 4, 11, and 13) had at least one marker with a lod score >2.0, allowing for heterogeneity. These regions will be saturated with additional markers and investigated in a new, larger set of families to test for replication.     

Preventive behaviours in the Hutterite community following a nurse-managed cholesterol screening program

In this study we examined the effect of a nurse-managed cholesterol screening program on the preventive health behaviours (e.g., diet changes, weight loss, medical surveillance) of 534 Hutterites. Hutterites are the largest single rural ethnic group in Canada and they have been found to be at high risk for heart disease. Eighty-one percent of the participants engaged in at least one preventive behaviour. Ongoing cholesterol surveillance was reported by 34.5% of the participants. Weight loss and dietary fat reduction were reported by 31% and 62% of the respondents, respectively. Seven percent of the respondents began lipid-lowering pharmacologic therapy. Screening cholesterol levels and age were significantly related to all of the outcomes except weight loss. This study provides evidence that community-based screening accompanied by counselling and referral by nurses can positively affect preventive behaviours.     

Expression of lysyl oxidase from cDNA constructs in mammalian cells: the propeptide region is not essential to the folding and secretion of the functional enzyme

Rat aortic lysyl oxidase cDNA was expressed under a metallothionein promoter in Chinese hamster ovary cells using a dihydrofolate reductase selection marker. One methotrexate-resistant cell line, LOD-06, generated by transfecting with full-length cDNA, yielded lysyl oxidase proteins consistent with the 50 kDa proenzyme and a 29 kDa mature catalyst. A second cell line, LOD32-2, was generated by transfection with a truncated cDNA lacking sequences which code for the bulk of the propeptide region. Both cell lines secreted apparently identical, 29 kDa forms of mature lysyl oxidase each of which catalyzed the deamination of human recombinant tropoelastin and alkylamines, consistent with the known specificity of lysyl oxidase. The secreted enzyme forms were inhibited by chemical inhibitors of lysyl oxidase activity, including beta-aminopropionitrile, phenylhydrazine, ethylenediamine, alpha, alpha'-dipyridyl, and diethyldithiocarbamate. Sensitivity to these agents is consistent with the presence of copper and carbonyl cofactors in the expressed enzymes, characteristic of lysyl oxidase from connective tissues. These results indicate the lack of essentiality of the deleted proprotein sequence for the proper folding, generation of catalytic function, and secretion of lysyl oxidase.     

Diffuse ocular metastases as an initial sign of metastatic lung cancer

A 68-year-old man with lung carcinoma and no systemic metastasis presented with a blind, painful right eye. Examination showed no perception of light in the affected eye, elevated intraocular pressure, marked epibulbar hyperemia, and a white placoid mass in the conjunctiva nasally. Although a cataract precluded a clear view of the fundus, ultrasonography disclosed a total retinal detachment and a diffuse thickening of the choroid. Metastatic carcinoma was suspected clinically and the eye was enucleated because of severe, intractable pain. Pathologic examination demonstrated extensively necrotic metastatic adenocarcinoma involving the conjunctiva, peripheral cornea, sclera, iris, ciliary body, choroid, optic nerve, subarachnoid space, and orbit. Metastatic disease usually affects a singular ocular tissue, and it is highly unusual for such widespread ocular involvement to be the first sign of systemic metastasis from a primary neoplasm.     

Gas-liquid chromatographic determination of azinphos ethyl in human plasma and in mouse plasma, tissue, and fat

A new method for the determination of azinphos ethyl (O,O-diethyl-S-(4-oxo-1,2,3-benzotriazin-3(4H)-ylmethyl) phosphorodithioate) in human plasma and in mouse plasma, tissue, and fat has been developed. The method is based on extraction with benzene or hexane and cleanup of fat and tissue samples by a minicolumn containing Florisil and sodium sulfate. Azinphos ethyl is eluted from the column with 10% acetonitrile in benzene and is concentrated to an appropriate volume for gas-liquid chromatographic analysis, using a 63Ni electron capture detector and a glass column containing 3% OV-1 on Gas-Chrom Q. The method is sensitive to 0.005 ppm in human plasma, 0.01 ppm in mouse plasma, 0.08 ppm in mouse liver, 0.05 ppm in mouse brain, and 0.10 ppm in mouse fat. The limit of detection is 2 pg; mean recoveries ranged from 96 to 98%.     

Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression

The influence of thymosterin on immunological reactivity of NZB mice was investigated. Thymosterin was administered three times per week for a period of six weeks to male and female NZB mice. Only lymphocytes from untreated female mice gave the positive results in the macrophage migration inhibition test using native DNA as the stimulating antigen. This effect was suppressed in thymosterin treated females. The administration of thymosterin therefore appears to correct the in vitro delayed hypersensitivity to DNA antigen.     

Standards of hourly excretion of B group vitamins with urine for children aged 9 to 13 years

Values of hour excretion of vitamins B1, B2, B6 and PP with urine in children of 9-13 years, studied under conditions of normal consumption of these vitamins, were estimated considering the correlation between the vitamins B concentration in blood and excretion of their metabolites with urine as well as using these parameters dependence on content of the vitamins in daily ration; for this purpose 35 adult persons and 31 children of both sexes were examined. Normal rate of riboflavin excretion with urine constituted 10-11 micrograms/h in children of this age, while of thiamine-11-12 micrograms/h. Under conditions of normal thiamine consumption, activity of erythrocyte transketolase, measured after preinactivation of transaldolase, exceeded 35 mumol/h/I ml of erythrocytes. Rates of excretion with urine of 4-pyridoxic acid and I-methyl nicotinamide were similar both in children and in adult persons and were equal to more than 40 micrograms/h and 400-600 micrograms/h, respectively.     

Manipulator system performance measurements

This paper presents results of man-in-the-loop tests of manipulator systems. These tests were performed as part of an effort to specify man-machine interface requirements for earth orbital teleoperator systems. The entire test sequence was designed to permit quantitative evaluation of a manipulator system in terms of general manipulative tasks and tasks specifically required for remote servicing of satellites. Comparison tests were carried out using two existing manipulators and control systems to perform a fine positioning task.