Chromosomal breakage and acute leukemia in congenital telangiectatic erythema and stunted growth.
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Biomedical subjects
Publications and source records attributed to D Bloom.
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OBJECTIVE: To investigate the role of the dopamine receptor 3 (DRD3) and transporter 1 (DAT1) genes in schizophrenia or in modulating its phenotype. METHODS: a Ser9Gly polymorphism in codon 9 of the DRD3 and a VNTR polymorphism in the DAT1genes were examined in two groups of schizophrenic patients, one of excellent neuroleptic responders (N=42) and one of nonresponders (N=64). A group of healthy volunteers screened for major psychiatric disorders was also included (N=89). In addition, age at onset of psychotic symptoms, attention performance and family loading for schizophrenia spectrum disorders were compared between patients with different genotypes in the DRD3 and DAT1 genes. RESULTS: No significant differences in the allelic distribution of the DRD3 and DAT1 polymorphisms were detected between schizophrenic patients and controls. A trend toward an excess of DRD3 genotype Gly/Gly was observed in neuroleptic nonresponder schizophrenic patients compared to controls (chi(2)=3. 30, df=1, p=0.07). No significant differences in age at onset of psychotic symptoms, attention task performance or family loading for schizophrenia spectrum disorders were observed between groups with different DRD3 and DAT1 genotypes. CONCLUSION: These results do not support the role of either of these genes in increasing susceptibility to schizophrenia or in modulating its phenotype in the studied population.
This study investigates the associations between the different symptom dimensions of schizophrenia and neuropsychological performances. Globally, the results replicate previously described associations. The "negative" dimension correlates with impaired sustained attention and working memory, thus suggestive of dorsolateral frontal cortex dysfunction. "Disorganization" correlates with the ability to inhibit proactive interference. thus with ventromedial frontal dysfunction. The results also add support to the view that the "psychotic" dimension described in three-dimension models includes in fact two distinct dimensions, (1) "hallucinations," here associated to episodic memory measures, and (2) "delusions", here associated to visuospatial attention, thus suggestive of mediotemporal and posterior neocortical dysfunction, respectively.
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The cerebrovascular response to hypercapnia and hyperventilation was studied in normal and jaundiced baboons by the intracarotid 133Xe injection technique. The baboons with bile duct ligation were found to have decreased CBF at all levels of PaCO2. This difference between normal and jaundiced baboons was 13% at normocapnia rising to 33% with hypercapnia and 37% with hypocapnia. The CBF values all were increased toward normal by use of an alpha-adrenoreceptor blockade (phentolamine). It is suggested that the obstructive jaundice potentiated an inherent vasoconstrictor alpha-adrenergic mechanism to oppose the effects of CO2. Also, alteration of the PaCO2 may have produced its effects on the cerebral vessels by altering this adrenergic mechanism.
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Hospital costs for chronic schizophrenic patients consume a major share of the cost of mental health care. Despite the success of numerous community mental health programs, repeated hospital admission of schizophrenic patients is a significant problem. Effective therapy and compliance with that therapy are two important factors in reducing hospitalization. Adverse effects of antipsychotic agents, particularly extrapyramidal symptoms (EPS), negatively influence compliance. A new antipsychotic agent, risperidone, has demonstrated efficacy against both positive and negative symptoms of schizophrenia and has been associated with a low incidence of EPS. To assess the potential of risperidone therapy to reduce the number of days in the hospital, a retrospective analysis was undertaken of data from a year-long clinical trial of risperidone. For 27 patients who had completed 365 days of open-label therapy with risperidone, the number of hospital days during this period was compared with the number of hospital days in the preceding 365-day period, when the patients were receiving conventional antipsychotic medication. The mean number of hospital days was reduced from 106 to 85 days, for a 20% reduction (P = 0.003) after the initiation of risperidone. Three subgroups of patients were apparent: (1) those who had spent no time in the hospital in the pre-risperidone year, (2) those who had been continuously hospitalized in the pre-risperidone year, and (3) those who had spent part of the pre-risperidone year (3 to 165 days) in the hospital. A 73% reduction (P = 0.0009) in mean hospital days (from 49 to 13 days) was achieved in the third subgroup (n = 14). These findings suggest that risperidone may have a role in reducing hospital days for the chronic schizophrenic population.