A new five factor model of schizophrenia

Schizophrenic psychopathology is heterogeneous and multidimensional. Various strategies have been developed over the past several years to assess and measure more accurately discrete domains of psychopathology. One of the more fruitful strategies to investigate more homogenous domains of psychopathology has been the positive-negative syndrome approach. However, this approach is unable to address a number of important issues. Most schizophrenics present a mixed syndrome; the criteria for what constitutes a positive and negative syndrome are variable; distinguishing primary from secondary negative symptoms can be difficult. In order to address some of these problems, we propose the introduction of a five syndrome model based on a reanalysis of factor analytic procedures used on 240 schizophrenics assessed with the Positive and Negative Syndrome Scale (PANSS). We present data on a 5-factor solution which appears to best fit the psychopathological data and which is supported by three independent and comparable factor analyses; negative, positive, excitement, cognitive and depression/anxiety domains of psychopathology give patients their individual mark. Data on internal consistency of the five factors and on initial validation using demographic and clinical variables are presented.     

Evaluation of peripheral blood involvement of mantle cell lymphoma by fluorescence in situ hybridization in comparison with immunophenotypic and morphologic findings.

Mantle cell lymphoma is non-Hodgkin's B-cell lymphoma characterized by the t(11;14)(q13;q32) translocation. Peripheral blood involvement of mantle cell lymphoma is usually associated with a poor prognosis and therefore, its identification is clinically important. In this study, we performed cyclin D1/IgH-probe fusion fluorescence in situ hybridization analysis on 223 peripheral blood samples: 185 from 125 mantle cell lymphoma patients, and 38 normal controls. The cutoff values for the test were established using normal controls. Flow cytometry on peripheral blood and corresponding bone marrow samples was used to evaluate this test. In all, 26% of the 185 peripheral blood samples and 27% of the 161 corresponding bone marrow samples were flow cytometry positive for mantle cell lymphoma. The mean numbers of single and- double-fusion signals and the mean number of CD5/CD19-positive cells, absolute blood lymphocyte count, and white blood cell count were significantly higher in peripheral blood and corresponding bone marrow samples with mantle cell lymphoma-positive flow cytometry. Double-fusion signals were more specific than single-fusion ones. Fluorescence in situ hybridization was far more likely to be positive for mantle cell lymphoma when the peripheral blood and the corresponding bone marrow samples had positive flow cytometry results or morphology (P<0.01). Our study indicates that cyclin D1/IgH-fusion fluorescence in situ hybridization analysis could be used to determine the presence and character of circulating mantle cell lymphoma cells in peripheral blood, thus enhancing our ability to evaluate leukemic mantle cell lymphoma and minimum residual disease.     

Normalized protein catabolic rate versus serum albumin as a nutrition status marker in pediatric patients receiving hemodialysis.

BACKGROUND: Protein-energy malnutrition occurs commonly in patients receiving hemodialysis (HD). Although serum albumin (sAlb) is recommended to monitor nutrition status in patients receiving HD, many processes unrelated to nutrition status can affect albumin concentrations. METHODS: We previously showed normalized protein catabolic rate (nPCR) to be superior to sAlb to reflect improvement in nutrition status in pediatric patients receiving maintenance HD after treatment with intradialytic parenteral nutrition for severe protein-energy malnutrition. We now compare nPCR and sAlb as nutrition status markers for pediatric patients on HD irrespective of current nutrition status. RESULTS: Forty-four patients comprising 840 months of HD provision were assessed. nPCR was higher for younger patients. Mean nPCR values were significantly lower for adolescent patients with persistent weight loss of at least 2% for at least 3 consecutive months versus patients without persistent weight loss (1.03 +/- 0.29 g/kg/d vs. 1.15 +/- 0.27 g/kg/d, P < .002), and the odds for developing persistent weight loss were four times greater for adolescent patients with nPCR less than 1 g/kg/d. No association between nPCR and weight loss was observed for younger patients. Mean sAlb levels were greater than 4 g/dL for all patient age groups and did not demonstrate a clinically significant difference between patients with or without weight loss. CONCLUSION: We suggest that nPCR may be useful for monthly nutrition status in adolescent patients receiving maintenance HD and that adolescents with nPCR less than 1 g/kg/d may be at increased risk for subsequent weight loss.     

Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.

Parkin mutations account for the majority of familial and sporadic early onset Parkinson's disease (EOPD) cases with a known genetic association. More than 100 mutations have been described in the Parkin gene that includes homozygous, compound heterozygous, and single heterozygous mutations. We have designed a Parkin mutation genotyping array (gene chip) that includes published Parkin sequence variants and allows their simultaneous detection. The chip was validated by screening 85 PD cases and 47 controls previously tested for Parkin mutations. Similar genotyping microarrays have been developed for other genetically heterogeneous diseases including age-related macular degeneration. Here, we show the utility of a genotyping array for Parkinson's disease by analysis of 60 subjects from the Genetic Epidemiology of Parkinson Disease (GEPD) study that includes 15 early-onset PD case probands and 45 relatives.