RESUMO
BACKGROUND AND PURPOSE: Branch atheromatous disease is a stroke subtype considered a risk factor for early neurologic deterioration. Meanwhile, crossed cerebellar diaschisis is thought to be influenced by the degree and location of supratentorial perfusion abnormalities and is associated with the clinical outcome in the case of an ischemic stroke. In this article, our aim was to clarify the utility of using a whole-brain 3D pulsed continuous arterial spin-labeling method as an imaging biomarker for predicting neurologic severity in branch atheromatous disease. MATERIALS AND METHODS: Twenty-three patients with branch atheromatous disease in the lenticulostriate artery territory were enrolled. All patients underwent MR imaging, including DWI, 3D-TOF-MRA, and 3D-arterial spin-labeling. We measured the asymmetry index of CBF in the affected area (branch atheromatous disease), the asymmetry index of the contralateral cerebellar hemisphere (crossed cerebellar diaschisis), and the DWI infarct volume in the lenticulostriate artery territory. We also compared each parameter with the initial NIHSS score with the Pearson correlation coefficient. RESULTS: Among the 23 patients, we found no correlation between NIHSS score and the asymmetry index of CBF in the affected area (branch atheromatous disease) (r = -0.027, P = .724), whereas the asymmetry index of the contralateral cerebellar hemisphere (crossed cerebellar diaschisis) and DWI infarct volumes were significantly correlated with NIHSS score (r = 0.515, P = .012; r = 0.664, P = .001, respectively). CONCLUSIONS: In patients with branch atheromatous disease, 3D-arterial spin-labeling can detect crossed cerebellar diaschisis, which is correlated with the degree of neurologic severity.
Assuntos
Doença Cerebrovascular dos Gânglios da Base/diagnóstico por imagem , Artérias Cerebrais/diagnóstico por imagem , Infarto Cerebral/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética/métodos , Neuroimagem/métodos , Imagem de Perfusão/métodos , Idoso , Idoso de 80 Anos ou mais , Cerebelo/diagnóstico por imagem , Feminino , Lateralidade Funcional , Humanos , Processamento de Imagem Assistida por Computador , Imageamento Tridimensional , Masculino , Pessoa de Meia-Idade , Placa Aterosclerótica/diagnóstico por imagem , Estudos Retrospectivos , Marcadores de SpinRESUMO
OBJECTIVES: The pathophysiology of migraine headaches is not clearly understood yet. The dopaminergic system has been hypothesized to be involved in migraine pathogenesis. The aim of this study was to investigate catechol-O-methyltransferase (COMT) polymorphisms and chronic headaches. We analyzed five single nucleotide polymorphisms (SNPs) in COMT. MATERIALS & METHODS: The study population consisted of 71 patients with migraine with aura, 152 patients with migraine without aura, 86 patients with tension-type headache, and 191 healthy controls. The selected polymorphic markers included one causing His62His (rs4633) and two non-synonymous SNPs, Ala72Ser and Val158Met (rs6267, rs4680 respectively). Two other non-polymorphic SNPs (rs6270, rs740602) were examined. RESULTS: We found no significant differences in any genotypes, allele frequencies, or haplotypes among the patient groups and controls. CONCLUSIONS: Our results indicate that the five polymorphisms in COMT have no association with migraineurs in Western Japan. The possibility that segments elsewhere in the gene may contain a mutation responsible for modifying the expression of COMT or the activity of the enzyme is important. We cannot conclusively exclude the entire COMT gene from being involved in migraine pathogenesis.
Assuntos
Catecol O-Metiltransferase/genética , Estudos de Associação Genética/métodos , Transtornos de Enxaqueca/diagnóstico , Transtornos de Enxaqueca/genética , Polimorfismo de Nucleotídeo Único/genética , Adulto , Feminino , Frequência do Gene/genética , Genótipo , Haplótipos/genética , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Transtornos de Enxaqueca/epidemiologia , Cefaleia do Tipo Tensional/diagnóstico , Cefaleia do Tipo Tensional/epidemiologia , Cefaleia do Tipo Tensional/genéticaRESUMO
BACKGROUND AND PURPOSE: To conduct an epidemiological survey of acute encephalitis focusing on non-herpetic acute limbic encephalitis (NHALE) in Tottori Prefecture, western area of Japan. METHODS: A questionnaire survey on the annual number of patients aged 16 years or more with acute encephalitis from 2001 to 2005 was undertaken in 2006. RESULTS: During the study period, 49 patients were diagnosed with acute encephalitis. The subtype of acute encephalitis was as follows: 10 patients with herpes simplex encephalitis (HSE), 12 patients with NHALE, 4 patients with paraneoplastic encephalitis, 2 patients with encephalitis associated with collagen disease, one patient with viral encephalitis other than HSE, 20 patients with encephalitis with unknown causes. The service-based incidence rate of acute encephalitis was 19.0 per million person-years. The incidence rate of NHALE subtype was 4.7 per million person-years. CONCLUSIONS: Our epidemiological survey indicated an estimated 550 patients would develop NHALE per year in Japan, suggesting that NHALE may not be a rare disorder.
Assuntos
Encefalite/epidemiologia , Doença Aguda , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças do Colágeno/complicações , Encefalite/classificação , Encefalite/etiologia , Encefalite Viral/epidemiologia , Feminino , Humanos , Incidência , Japão/epidemiologia , Encefalite Límbica/epidemiologia , Masculino , Pessoa de Meia-Idade , Vigilância da População , Estudos Retrospectivos , População Rural , Inquéritos e QuestionáriosRESUMO
This prospective, open-label, multicentre study examined the efficacy and safety of rapidly (overnight) or slowly (after 2 weeks of concomitant usage) switching patients with Parkinson's disease (PD) from conventional ergot dopamine agonists (DAs) to the non-ergot DA, pramipexole. Fifty-nine early-to-advanced PD patients with motor symptoms that were inadequately controlled by ergot DAs were enrolled. Patients were switched from ergot derivatives to pramipexole and evaluated every 2 weeks for 12 weeks by Hoehn and Yahr staging, Unified Parkinson's Disease Rating Scale (UPDRS) and a modified Epworth Sleepiness Scale (mESS). The UPDRS III subscores and total UPDRS scores significantly improved, independent of switching method. Adverse events, all of which were mild, occurred in 29.2% of patients. No sudden onset of excessive daytime sleepiness or significant worsening in mESS was seen. Switching patients with PD from ergot DA to pramipexole, using either a slow or rapid switching method, appeared to be well tolerated and effective, although further dose adjustment may be necessary in some patients after the switch.
Assuntos
Antiparkinsonianos/uso terapêutico , Benzotiazóis/uso terapêutico , Agonistas de Dopamina/uso terapêutico , Ergolinas/uso terapêutico , Doença de Parkinson/tratamento farmacológico , Adulto , Antiparkinsonianos/administração & dosagem , Benzotiazóis/administração & dosagem , Bromocriptina/administração & dosagem , Bromocriptina/uso terapêutico , Cabergolina , Agonistas de Dopamina/administração & dosagem , Esquema de Medicação , Ergolinas/administração & dosagem , Feminino , Humanos , Doença de Parkinson/diagnóstico , Doença de Parkinson/fisiopatologia , Pergolida/administração & dosagem , Pergolida/uso terapêutico , Pramipexol , Estudos Prospectivos , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
Dementia with Lewy bodies (DLB) is the second most common senile degenerative dementia after Alzheimer's disease (AD). The presentation of overlapping symptoms between these two disorders leads to difficulties in the determination of clinical entities. Serum samples were subjected to surface-enhanced laser desorption/ionization time-of-flight mass spectrometry (SELDI-TOF MS) analysis in order to identify a diagnostic marker for DLB. Four putative protein peaks (m/z 3,883, 4,964, 7,761 and 10,534) were differentially expressed in DLB patients compared to AD patients and control subjects. Receiver operating characteristics (ROC) analysis of a multivariate logistic model of the combination of three peaks (m/z 3,883, 7,761 and 10,534) exhibited the highest discriminatory ability of DLB subjects from non-DLB subjects with a sensitivity of 83.3%, a specificity of 95.8%, a positive predictive value of 90.9% and a negative predictive value of 92.0%. SELDI-TOF MS profiling, therefore, has revealed a serum signature with high diagnostic potential for DLB.
Assuntos
Biomarcadores/sangue , Doença por Corpos de Lewy/sangue , Doença por Corpos de Lewy/diagnóstico , Proteômica/métodos , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Análise Serial de Proteínas , Curva ROC , Sensibilidade e EspecificidadeRESUMO
Although it has been well documented that pre-eclampsia is caused by a combination of maternal and fetal susceptibility genes, little is known about the precise etiology of this complicated disorder. To investigate how the expression of fetal genes contributes to the mechanisms underlying the progression of this disease, we have analyzed differentially expressed genes using placentas from 13 normal pregnancies and 14 pregnancies with severe pre-eclampsia. We performed genome-wide expression profiling using high-density oligonucleotide microarrays, followed by validation using real-time PCR. Among the 47,000 genes that were screened in the microarray, 137 genes were found to be differentially expressed between normal and pre-eclamptic tissues. Among these candidates, 70 were up-regulated and 67 were down-regulated. The up-regulated genes included leptin and inhibin A, which are well-known biological markers for pre-eclampsia, as well as FLT1, which was recently proved to be tightly linked with the etiology of this disease. Gene ontology analysis further revealed several biological processes that could be associated with the development of pre-eclampsia, including response to stress, host-pathogen interactions, lipid metabolism, and carbohydrate metabolism. Analyses of biological mechanisms highlighted some important pathways that may be involved in this disorder, such as the TGF-beta and CEBPA-related pathways. Furthermore, when our present subjects were classified as either severe cases of early onset or late onset pre-eclampsia, the expression of 11 genes could be correlated with the severity of this disorder. These genes may therefore prove to be novel biological markers by which the severity of this condition could be predicted. Our data are likely to be a useful future resource in the elucidation of the disease-process and in the identification of novel markers for pre-eclampsia.
Assuntos
Feto/fisiologia , Regulação da Expressão Gênica , Análise de Sequência com Séries de Oligonucleotídeos , Placenta/fisiologia , Pré-Eclâmpsia/genética , Adulto , Pressão Sanguínea , Peso Corporal , Vilosidades Coriônicas/fisiologia , Feminino , Predisposição Genética para Doença , Idade Gestacional , Humanos , Placenta/anatomia & histologia , Placenta/patologia , Gravidez , RNA/genética , RNA/isolamento & purificaçãoRESUMO
BACKGROUND: Brain death (BD) and the subsequent ischemia/reperfusion (I/R) injury have cardinal implications for the pathogenesis of kidney transplantation (Tx). However, the precise mechanistic pathway of BD and the subsequent I/R injury are unknown. In this study, we performed genome-wide analysis for differential gene expression in kidney isografts from BD donors. Their gene expressions were compared with those from living sources. METHODS: Kidneys from BD rats were engrafted and their gene expressions were compared with those from living controls. Donors were intubated, and mechanically ventilated for 6 hours. Grafts were harvested 6 hours after BD, and 1 hour after engraftment. The expression profile of approximately 20,500 genes was analyzed. RESULTS: Gene expression of chemokines (Scya2 and Gro1), cytokines (IL-1 and -6) and adhesion molecules (E- and P-selectin and ICAM-1) were upregulated in the BD kidneys and 1 hour after engraftment. An antiapoptotic gene (Birc2), IkappaB-zeta, and protective gene (HO-1) were also upregulated. Other upregulated genes included oncogenes (lipocalin2, Bcl3, and CCAAT/enhancer binding protein delta), Calgranulin B, DEXRAS1, insulin-like growth factor binding protein-1, inhibin beta-B-subunit gene, IgG Fc receptor, and FK 506 binding protein 5. We also observed downregulation of the genes Amphiphsin, Jagged 1, Pace 4, Slc15a2, Kcnn2, and gap junction membrane channel protein alpha5 only in kidneys from BD donors. CONCLUSIONS: This is the first demonstration of global gene expression analysis using the rat brain-death isograft model. These results provide new insights for the detection of novel target genes for treatment and prognosis of grafts from brain-dead and extended marginal donors.
Assuntos
Morte Encefálica , Perfilação da Expressão Gênica , Transplante de Rim/fisiologia , Transplante Isogênico/fisiologia , Animais , Quimiocinas/genética , Citocinas/genética , Regulação da Expressão Gênica , Molécula 1 de Adesão Intercelular/genética , Modelos Animais , Ratos , Doadores de TecidosRESUMO
OBJECTIVES: The goal of this study is to clarify the association between migraine and Serotonin 2C receptor Cys23Ser polymorphism in Japanese population. MATERIALS AND METHOD: This study included 37 individuals with migraine with aura (MWA), 80 with migraine without aura, 43 with tension type headache (TH) and 360 with controls. The genotypes of Cys23Ser polymorphism were confirmed by polymerase chain reaction-restriction fragment length polymorphism techniques. RESULTS: The Ser allele frequency in control subjects is much less than that in Caucasian population. The Ser allele frequency in patients with MWA was higher than that in control subjects. CONCLUSION: The present study provides that 5HTR2c Cys23Ser polymorphism may be associated with MWA in Japanese population.
Assuntos
Enxaqueca com Aura/genética , Polimorfismo Genético , Receptor 5-HT2C de Serotonina/genética , Adulto , Feminino , Predisposição Genética para Doença/epidemiologia , Genótipo , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de RiscoAssuntos
Antiparkinsonianos/efeitos adversos , Antiparkinsonianos/uso terapêutico , Hiper-Homocisteinemia/induzido quimicamente , Levodopa/efeitos adversos , Levodopa/uso terapêutico , Doença de Parkinson/tratamento farmacológico , Homocisteína/sangue , Homocisteína/efeitos dos fármacos , Humanos , Hiper-Homocisteinemia/sangue , Hiper-Homocisteinemia/genética , Doença de Parkinson/sangue , Doença de Parkinson/genéticaRESUMO
Migraine is considered to be a polygenic multifactorial disease with various environmental and genetic etiologies. We investigated glutathione S-transferase (GST) P1 Ile(105)Val, T1 and M1 polymorphisms in 174 Japanese headache sufferers and 372 Japanese controls. The headache group consisted of 38 cases of migraine with aura, 95 migraine without aura (MWOA) and 41 tension-type headache sufferers. The M1 homozygous deletion genotype was significantly higher in MWOA (64%) compared with controls (46%; p < 0.01; odds ratio = 2.18, 95% confidence interval: 1.32-3.61, adjusted for age and gender). In a comparison of the current smokers, the M1 null frequencies in MWOA were further increased. GSTM1 may be one of the genetic risk factors for MWOA in the Japanese population.
Assuntos
Predisposição Genética para Doença , Glutationa Transferase/genética , Transtornos de Enxaqueca/genética , Adulto , Alelos , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos de Enxaqueca/enzimologia , Reação em Cadeia da Polimerase , Polimorfismo Genético , Fatores de Risco , Fumar/efeitos adversosRESUMO
We examined whether autosomal dominant parkinsonism of a Japanese family, Sagamihara family, was due to the mutations of alpha-synuclein, parkin, tau, and UCH-L1, which have been reported as the causal genes for parkinsonism in other families. Restriction-enzyme digestion of polymerase-chain reaction (PCR) amplified genomic DNA fragments of alpha-synuclein exons 3 and 4 detected no point mutation. PCR-amplification of parkin exons 3, 4, 5, 6 and 7 detected no exon deletion. Direct sequencing of PCR-amplified DNA fragments of tau exons 9, 10, 12, and 13 and intron 10, and of UCH-L1 exon 4 revealed that all these exons and intron were normal including a polymorphic nucleotide substitution. These results indicated that the parkinsonism of the Sagamihara family seems not to be due to previously identified point mutations of alpha-synuclein, tau, or UCH-L1, or to exon deletion of parkin.
Assuntos
Ligases/sangue , Ligases/genética , Proteínas do Tecido Nervoso/sangue , Proteínas do Tecido Nervoso/genética , Transtornos Parkinsonianos/sangue , Transtornos Parkinsonianos/genética , Tioléster Hidrolases/sangue , Tioléster Hidrolases/genética , Ubiquitina-Proteína Ligases , Proteínas tau/sangue , Proteínas tau/genética , Éxons/genética , Feminino , Humanos , Japão , Masculino , Mutação/genética , Linhagem , Reação em Cadeia da Polimerase , Sinucleínas , Ubiquitina Tiolesterase , alfa-SinucleínaRESUMO
OBJECTIVE: To evaluate recovery functions of the sensory cortex using somatosensory evoked potentials (SEPs) elicited by paired stimuli of the median nerve in patients with myotonic dystrophy (MD). SUBJECTS/METHODS: Twelve MD patients were enrolled in the present investigation. Five patients with facioscapulohumeral muscular dystrophy (FSH) and 12 healthy volunteers were studied as control groups. SEP was recorded from the hand sensory area contralateral to the median nerve stimulated at the wrist. Single pulse or paired-pulse stimuli at various interstimulus intervals (ISIs) (10, 20, 40, 60, 80, 100, 150, 200 and 300 ms) were given. Recovery functions of N9, N20onset-N20peak, N20-P25 and P25-N33 components were studied. RESULTS: Conventional SEPs to a single stimulus were normal in the latency and amplitude in all the patients. Recovery functions of both N9 and N20o-N20p components were normal in the patients. In contrast, in MD patients, disinhibited or hyperexcitable recovery pattern was observed in recovery curves of the N20-P25 or P25-N33 components, whereas those were normal in FSH patients. CONCLUSIONS: Disinhibited cortical excitability (or hyperexcitability) is present in the sensory cortex in patients with myotonic dystrophy. This may reflect cortical pathology or functional alteration of the sensory cortex in MD.
Assuntos
Potenciais Somatossensoriais Evocados/fisiologia , Nervo Mediano/fisiopatologia , Distrofia Muscular Facioescapuloumeral/fisiopatologia , Distrofia Miotônica/fisiopatologia , Adulto , Fatores Etários , Idoso , Análise de Variância , Feminino , Mãos/inervação , Humanos , Imageamento por Ressonância Magnética , Masculino , Nervo Mediano/fisiologia , Pessoa de Meia-Idade , Distrofia Miotônica/patologia , Tempo de Reação , Valores de Referência , Córtex Somatossensorial/fisiologia , Córtex Somatossensorial/fisiopatologiaRESUMO
Amyloid beta protein (Abeta) deposition was investigated in the frontal cortex of 54 autopsy cases of frontotemporal lobar degeneration (FTLD) using methenamine silver staining, and immunohistochemistry employing the monoclonal end-specific antibodies BC05 and BA27 to visualize deposits containing Abeta(42(43)) and Abeta(40), respectively. Abeta was detected in 14 (26%) patients, nearly always in the form of diffuse Abeta(42(43)) containing plaques though some cored, neuritic plaques with trace amounts of Abeta(40) were occasionally seen. The 14 patients showing Abeta deposits were significantly older at onset of illness than those 40 patients without Abeta. It was only possible to genotype 46/54 cases, 16 of whom bore at least one copy of the Apolipoprotein E (APOE) epsilon4 allele, giving an allele frequency of 20%. Possession of APOE epsilon4 allele was significantly associated with deposition of Abeta such that 10/16 epsilon4 allele bearers had Abeta deposits. Eight of these ten patients showed only mild to moderate amounts of Abeta, but in two patients, one homozygous and one heterozygous for epsilon4 allele, there was extensive neuritic plaque and neurofibrillary tangle formation. In contrast, only few non-epsilon4 allele bearers (4/30) showed minor Abeta deposits. When stratifying for APOE epsilon4 allele, both bearers and non-bearers of epsilon4 allele with Abeta deposits had a significantly later age at onset than their respective groups without Abeta deposits. We conclude that the likelihood of Abeta deposition, as a secondary and coincidental feature unrelated to the primary pathological process, within the brains of individuals with FTLD will be high if patients have a sufficiently late onset of illness or happen to be a bearer of the APOE epsilon4 allele. Indeed 9/14 patients with Abeta deposits studied here had an onset of illness after 55 years of age and bore APOE epsilon4 allele.
Assuntos
Envelhecimento/metabolismo , Peptídeos beta-Amiloides/metabolismo , Apolipoproteínas E/genética , Demência/genética , Demência/metabolismo , Idade de Início , Apolipoproteína E4 , Demência/patologia , Frequência do Gene , Genótipo , Heterozigoto , Homozigoto , Humanos , Emaranhados Neurofibrilares/patologia , Placa Amiloide/patologiaRESUMO
Mitochondrial dysfunction has been reported in patients with migraine. We investigated leukocyte mitochondrial DNA 11084 A to G polymorphism in 166 Japanese migraineurs and 483 Japanese controls. The migraine group consisted of 43 patients suffering from migraine with aura (MWA) and 123 from migraine without aura (MOA). The frequency of the transition was 7.2% (12/166) in the migraine group and 7.3% (35/483) in the controls. The frequency of the transition was 4.7% in MWA and 8.1% in MOA. There was no significant difference among the groups (chi-square test). The mitochondrial DNA 11084 A to G transition was more common in Japanese subjects than reported in Caucasians; however, this polymorphism is not a genetic risk factor for migraine in Japanese patients.
Assuntos
Povo Asiático/genética , Transtornos de Enxaqueca/genética , Polimorfismo Genético , Adulto , DNA Mitocondrial , Feminino , Humanos , Japão , Masculino , Transtornos de Enxaqueca/epidemiologia , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Fatores de RiscoRESUMO
Increased homocysteine levels are associated with various pathological conditions in humans, including stroke and cardiovascular disorders. Homocysteine acts as an excitatory amino acid in vivo and may influence the threshold of migraine headache. Frosst et al. [1995] reported an association between the homozygous C677T mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene and serum homocysteine levels. This study was designed to determine the prevalence of the MTHFR mutation in Japanese patients with migraine and tension-type headache (TH). Seventy-four patients with migraine headaches (22 with aura and 52 without aura), 47 with THs, and 261 normal controls were recruited. Genotyping of MTHFR C677T polymorphism was performed by polymerase chain reaction-restriction fragment length polymorphism. We detected that the incidence of the homozygous transition (T/T) in migraine sufferers (20.3%) was significantly higher than that in controls (9.6%). Moreover, the frequency of the T/T genotype in individuals with migraine headaches with aura was remarkably high (40.9%). The MTHFR T allele was more frequent in the migraine group than in the control group. Our results support the conclusion that the MTHFR gene, causing mild hyperhomocysteinemia may be a genetic risk factor for migraine. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:762-764, 2000.
Assuntos
Transtornos de Enxaqueca/genética , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/genética , Alelos , Substituição de Aminoácidos , DNA/genética , Feminino , Frequência do Gene , Genótipo , Homozigoto , Humanos , Masculino , Metilenotetra-Hidrofolato Redutase (NADPH2) , Transtornos de Enxaqueca/enzimologia , Mutação , Polimorfismo Genético , Fatores de RiscoRESUMO
A 55-year-old woman with HTLV-1 associated myelopathy (HAM) was discovered in a rentan kotatsu (Japanese foot warmer with a frame and a coverlet by burning briquet) with conscious disorder and admitted to an emergency hospital. Her conscious disturbance waned the 3rd day after admission with gradual improvement of communication and food intake. However, on the 18th day after admission, her orientation was poor again and she was unable to take food for herself and keep sitting. She was diagnosed as suffering from an interval form of acute carbon monoxide (CMO) poisoning and transferred to our hospital for the purpose of hyperbaric oxygen therapy on the 20th day after exposure to CMO. In the course of treatment she recovered but showed jaundice, pruritus, liver dysfunction and elevation of antimitochondrial antibody. She received liver biopsy and was found to have primary biliary cirrhosis (PBC). On the 150th day, she manifested perspiration and hypertension. The clinical and immunological feature revealed her Basedow's disease. The relationship between HAM and PBC due to the autoimmune process has been predicted by investigators. The implication of autoimmune disease and HLA haplotype is a main focus of attention. Our case supports their hypothesis, and suggested that the complication occurred with immunological and genetic correlation. Anti-HTLV-1 antibody was positive at a titer of 1:8192 before exposure to CMO. On transferring to us, it was negative and revealed excessive positive at a titer of 1:20,480 on the 80th day. Immunoglobulin analysis was normal on admission and increased during hospitalization. It was reported that prenatal exposure to relatively mild concentrations of CMO in rats reduces splenic macrophage phagocytosis and killing ability as well as macrophage respiratory burst. These data suggested that PBC and Basedow's disease were manifested by exposure to carbon monoxide.
Assuntos
Intoxicação por Monóxido de Carbono/complicações , Doença de Graves/etiologia , Cirrose Hepática Biliar/etiologia , Paraparesia Espástica Tropical/complicações , Doença Aguda , Animais , Feminino , Humanos , Pessoa de Meia-Idade , RatosRESUMO
AIMS: To investigate the effects of artefacts on scanning laser polarimetry of the retinal nerve fibre layer. METHODS: Six eyes of six normal volunteers and an artificial nerve fibre layer were examined using the nerve fibre analyser II. The retinal nerve fibre layer thickness (RNFLT) was measured in each of four 90 degree quadrants, superior (S), temporal (T), inferior (I), and nasal (N), at 1.5 disc diameters from the disc margin. Study 1: Measurement in normal eyes. The amount of maximum error in RNFLT measurements was investigated as follows: (1) the intensity setting of the laser beam was changed to be as weak as possible or to be as strong as possible; (2) the intentional offsets of the laser beam axis in relation to the pupil were made in four directions; (3) the eye was rotated by shifting the head 45 or 90 degrees; (4) the right eye was measured by moving it to the left eye position on the head rest. Study 2: Measurements on an artificial nerve fibre layer. The birefringence measurements were confirmed with a plastic disc, which has a radial arrangement of birefringence. The plastic disc with black paper was fixed at the right eye position or the left eye position on the head rest. The retardation of the laser beam by the plastic disc on the black paper was measured. The retardation of the plastic disc was checked by an automatic birefringence evaluation system (ABR-10A, Uniopt Co, Ltd, Shizuoka). RESULTS: Study 1: The effects of the rotated eye and the measurement of the opposite eye position were significant. The eyes rotated 90 degrees showed quite a different pattern in which the thicker and thinner locations of the RNFLT are switched. The nasal RNFLT of the baseline and the 90 degree rotated eye are 41.9 (SD 6.0) microm and 122.5 (11.2) microm, respectively (p<0.0001, Scheffe multiple comparison test). Study 2: The uniform retardation of the plastic disc was observed with the ABR-10A. The NFA detects the retardation of the plastic disc which the retardation map showed as a double humped pattern. CONCLUSIONS: Study 2 indicated that the amount of corneal compensation was not small. The cause of significant influences by the rotated eyes and right eyes measurement in left eye position were thought to be incorrect corneal compensation. To increase the diagnostic ability of SLP, an improved compensation of the cornea is thought to be important.
Assuntos
Artefatos , Lasers , Fibras Nervosas/ultraestrutura , Oftalmologia/instrumentação , Nervo Óptico/anatomia & histologia , Retina/anatomia & histologia , Adulto , Glaucoma/diagnóstico , Humanos , Processamento de Imagem Assistida por Computador/normas , Reprodutibilidade dos TestesRESUMO
Plasma homocysteine and cysteine levels were measured in 90 patients with PD with the MTHFR C677T (T/T) genotype. The authors found that the levels of homocysteine-a possible risk factor for vascular disease-were elevated by 60% in levodopa-treated patients with PD, with the most marked elevation occurring in patients with the T/T genotype. Cysteine levels in subjects with PD did not differ from levels in control subjects. In the T/T genotype patients, homocysteine and folate levels were inversely correlated. Increased homocysteine might be related to levodopa, MTHFR genotype, and folate in PD.
Assuntos
Homocisteína/sangue , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/genética , Doença de Parkinson/sangue , Doença de Parkinson/genética , Mutação Puntual , Idoso , Idoso de 80 Anos ou mais , Antiparkinsonianos/administração & dosagem , Cisteína/sangue , Feminino , Ácido Fólico/sangue , Genótipo , Humanos , Levodopa/administração & dosagem , Masculino , Metilenotetra-Hidrofolato Redutase (NADPH2) , Pessoa de Meia-Idade , Doença de Parkinson/tratamento farmacológicoRESUMO
We examined the expression of presenilin 1 (PS-1) mRNA in cultured skin fibroblasts taken from living patients with Alzheimer's disease (AD) and human brains taken postmortem from AD patients by RT-PCR analysis. The donors of fibroblasts consisted of 28 cases with AD and 19 neurological patient without dementia (CTL). The brains came from 17 cases with AD and 23 cases with CTL. We found that PS-1 mRNA levels in skin fibroblasts of AD patients were significantly higher than those of CTL patients (p < 0.0001). Moreover, we found that PS-1 mRNA levels in human brains with AD were significantly higher than in those with CTL (p < 0.0001). These findings suggest that high levels of PS-1 mRNA in AD may play an important role in developing AD and that the examination of PS-1 mRNA in skin fibroblasts may be helpful for the diagnosis of AD.