| 1. |
- Cappi, C, et al.
(författare)
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Association study between functional polymorphisms in the TNF-alpha gene and obsessive-compulsive disorder
- 2012
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Ingår i: Arquivos de neuro-psiquiatria. - : FapUNIFESP (SciELO). - 1678-4227 .- 0004-282X. ; 70:2, s. 87-90
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Tidskriftsartikel (refereegranskat)abstract
- Obsessive-compulsive disorder (OCD) is a prevalent psychiatric disorder of unknown etiology. However, there is some evidence that the immune system may play an important role in its pathogenesis. In the present study, two polymorphisms (rs1800795 and rs361525) in the promoter region of the cytokine tumor necrosis factor-alpha (TNFA) gene were genotyped in 183 OCD patients and in 249 healthy controls. The statistical tests were performed using the PLINK® software. We found that the A allele of the TNFA rs361525 polymorphism was significantly associated with OCD subjects, according to the allelic χ² association test (p=0.007). The presence of genetic markers, such as inflammatory cytokines genes linked to OCD, may represent additional evidence supporting the role of the immune system in its pathogenesis.
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| 2. |
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| 3. |
- Cordeiro, Q, et al.
(författare)
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Association between the SLC6A3 A1343G polymorphism and schizophrenia
- 2010
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Ingår i: Arquivos de neuro-psiquiatria. - : FapUNIFESP (SciELO). - 1678-4227 .- 0004-282X. ; 68:5, s. 716-719
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Tidskriftsartikel (refereegranskat)abstract
- Epidemiological studies have demonstrated that the genetic component is an important risk factor for the development of schizophrenia. The genes that codify the different compounds of the dopaminergic system have created interest for molecular investigations in patients with schizophrenia because the antipsychotic drugs, especially those of first generation, act on this cerebral system. Thus the aim of the present study was to investigate the possible association between a new single nucleotide polymorphism (rs6347) located in exon 9 of the protein transporter (SLC6A3) and schizophrenia. The distribution of the alleles and genotypes of the studied polymorphism was investigated in a sample of 235 patients and 834 controls matched by gender and age. There were statistical differences in the allelic (χ2=5.97, 1d.f. , p=0.01, OR=1.33-1.05<OR<1.69) and genotypic (χ2=6.56, 2d.f. , p=0.03) distributions between patients and controls. Thus the SLC6A3 A1343G polymorphism was associated to the SCZ phenotype in the investigated sample.
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| 4. |
- Cordeiro, Q, et al.
(författare)
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Association study between the rs165599 catechol-O-methyltransferase genetic polymorphism and schizophrenia in a Brazilian sample
- 2012
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Ingår i: Arquivos de neuro-psiquiatria. - : FapUNIFESP (SciELO). - 1678-4227 .- 0004-282X. ; 70:12, s. 913-916
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Tidskriftsartikel (refereegranskat)abstract
- Schizophrenia is a severe psychiatric disorder with frequent recurrent psychotic relapses and progressive functional impairment. It results from a poorly understood gene-environment interaction. The gene encoding catechol-O-methyltransferase (COMT) is a likely candidate for schizophrenia. Its rs165599 (A/G) polymorphism has been shown to be associated with alteration of COMT gene expression. Therefore, the present study aimed to investigate a possible association between schizophrenia and this polymorphism. The distribution of the alleles and genotypes of this polymorphism was investigated in a Brazilian sample of 245 patients and 834 controls. The genotypic frequencies were in Hardy-Weinberg equilibrium and no statistically significant differences were found between cases and controls when analyzed according to gender or schizophrenia subtypes. There was also no difference in homozygosis between cases and controls. Thus, in the sample studied, there was no evidence of any association between schizophrenia and rs165599 (A/G) polymorphism in the non-coding region 3' of the COMT gene.
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| 5. |
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| 8. |
- Kouyoumdjian, João Aris, et al.
(författare)
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Concentric needle single fiber electromyography : Normative jitter values on voluntary activated Extensor Digitorum Communis
- 2007
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Ingår i: Arquivos de Neuro-Psiquiatria. - 0004-282X .- 1678-4227. ; 65:2B, s. 446-449
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Tidskriftsartikel (refereegranskat)abstract
- Single fiber electromyography (SFEMG) is the most sensitive clinical neurophysiological test for neuromuscular junction disorders, particularly myasthenia gravis. Normal values for jitter obtained with SFEMG electrode have been published, but there are few publications for concentric needle electrode (CNE). The aim of this study was to discuss the possibilities to analyse the jitter in CNE recordings and to get normal values of jitter for voluntary activated Extensor Digitorum Communis using disposable CNE. Fifty normal subjects were studied, 16 male and 34 female with a mean age of 37.1±10.3 years (19-55). The jitter values of action potentials pairs of isolated muscular fibers were expressed as the mean consecutive difference (MCD) after 20 analysed potential pairs. The mean MCD (n=50) obtained was 24.2±2.8 µs (range of mean values in each subject was 18-31). Upper 95% confidence limit is 29.8 µs. The mean jitter of all potential pairs (n=1000) obtained was 24.07±7.30 µs (range 9-57). A practical upper limit for individual data is set to 46 µs. The mean interpotential interval (MIPI) was 779±177 µs (range of individual mean values was 530-1412); there were no potentials with impulse blocking. The present study confirms that CNE is suitable for jitter analysis although certain precautions must be mentioned. Our findings of jitter values with CNE were similar to some other few reports in literature.
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| 9. |
- Kouyoumdjian, Joao Aris, et al.
(författare)
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Stimulated jitter with concentric needle in 42 myasthenia gravis patients
- 2013
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Ingår i: Arquivos de Neuro-Psiquiatria. - 0004-282X .- 1678-4227. ; 71:4, s. 237-243
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To estimate jitter parameters in myasthenia gravis in stimulated frontalis and extensor digitorum muscles using the concentric needle electrode. Methods: Forty-two confirmed myasthenia gravis patients, being 22 males (aged 45.6 +/- 17.2 years-old) were studied. Jitter was expressed as the mean consecutive difference (MCD). Results: MCD in extensor digitorum was 61.6 mu s (abnormal in 85.7%) and in frontalis 57.3 mu s (abnormal in 88.1%). Outliers represented 90.5% for extensor digitorum and 88.1% for frontalis. At least one jitter parameter was abnormal in 90.5% of the combined studies. Acetylcholine receptor antibody was abnormal in 85.7% of the cases. Conclusions: Stimulated jitter recordings measured from muscles using concentric needle electrode can be used for myasthenia gravis diagnosis with high sensitivity. Extensive normative studies are still lacking and, therefore, borderline findings should be judged with great caution.
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| 10. |
- Maranhão-Filho, Péricles, et al.
(författare)
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Robert Barany, a scientist with many interests
- 2019
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Ingår i: Arquivos de Neuro-Psiquiatria. - 0004-282X .- 1678-4227. ; 77:5, s. 366-368
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Tidskriftsartikel (refereegranskat)abstract
- Austrian-born Robert Barany was a scientist with many interests. This article highlights some of these interests and also some personal traits. He enrolled as a surgeon in World War I, was captured by the Russians in 1915 and, while still in the prison camp, was awarded the 1914 Nobel Prize in Physiology or Medicine for his work in otology. In 1916, he accepted an offer from Uppsala University, Sweden, and worked there for almost 20 years. He died shortly before his 60th birthday, in 1936.
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