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1.
Water Sci Technol ; 69(12): 2519-25, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24960016

RESUMO

For decades, arid and semi-arid regions in Africa have faced issues related to water availability for drinking, irrigation and livestock purposes. To tackle these issues, a laboratory scale greywater treatment system based on high rate algal pond (HRAP) technology was investigated in order to guide the operation of the pilot plant implemented in the 2iE campus in Ouagadougou (Burkina Faso). Because of the high suspended solids concentration generally found in effluents of this system, the aim of this study is to improve the performance of HRAPs in term of algal productivity and removal. To determine the selection mechanism of self-flocculated algae, three sets of sequencing batch reactors (SBRs) and three sets of continuous flow reactors (CFRs) were operated. Despite operation with the same solids retention time and the similarity of the algal growth rate found in these reactors, the algal productivity was higher in the SBRs owing to the short hydraulic retention time of 10 days in these reactors. By using a volume of CFR with twice the volume of our experimental CFRs, the algal concentration can be controlled during operation under similar physical conditions in both reactors.


Assuntos
Eucariotos , Eliminação de Resíduos Líquidos/métodos , Águas Residuárias/química , Purificação da Água/métodos , Biomassa , Reatores Biológicos , Burkina Faso , Floculação , Projetos Piloto , Lagoas , Instalações de Eliminação de Resíduos
2.
J Hosp Infect ; 85(4): 282-8, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24148362

RESUMO

BACKGROUND: Surgical site infection (SSI) is an ongoing major public health problem throughout the world that increases healthcare costs. Utilizing a methodology that can help clinicians to continuously collect data about SSIs, analyse it and implement the feedback into routine hospital practice has been identified as a top national priority in Japan. AIM: To conduct an intervention study through 'operations research' using partitioning at multiple facilities, and to reduce the incidence and consequences of SSI. METHODS: The Setouchi SSI Surveillance Group, which consists of seven institutes, started SSI surveillance in 2006. Until May of 2008, there were four surveillance periods (A-D). In all, 3089 patients underwent gastrointestinal surgery and were followed up for 30 days after their operations. Twenty-six factors that have been reported to be related to SSI were evaluated for all patients. The top three factors from each surveillance period were determined and then actual practice improvements were planned for each subsequent period. FINDINGS: The total SSI occurrence was 6.9% for period A, 6.3% for period B, 6.4% for period C and 3.9% for period D. Comparing periods A and D, there was a statistical significance in the decrease of SSI occurrence (P = 0.012). CONCLUSION: Using the results and partitioning analysis of active SSI surveillance to contribute to action plans for improving clinical practice was effective in significantly reducing SSIs.


Assuntos
Monitoramento Epidemiológico , Controle de Infecções/métodos , Infecção da Ferida Cirúrgica/epidemiologia , Infecção da Ferida Cirúrgica/prevenção & controle , Adulto , Idoso , Feminino , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência
4.
J Phys Condens Matter ; 22(40): 405501, 2010 Oct 13.
Artigo em Inglês | MEDLINE | ID: mdl-21386580

RESUMO

Although the optimized effective potential (OEP) method is a powerful method for going beyond the local density approximation of the density functional theory, it has not been widely used for extended systems. One of the reasons for this is that the OEP schemes used thus far contain an indefinite constant for extended systems that has to be determined in an ad hoc manner. In this paper, we propose a new practical scheme which enables us to determine the OEP without any such ambiguity. The principle is to determine the indefinite constant by imposing the requirement that the total energy be minimized. We apply the present scheme, in an exchange-only version, to crystalline alkali metals (Li, Na, and K), ferromagnetic Fe, and antiferromagnetic MnO.


Assuntos
Compostos Férricos/química , Magnetismo , Compostos de Manganês/química , Metais Alcalinos/química , Óxidos/química , Modelos Moleculares , Modelos Teóricos
5.
Mult Scler ; 15(2): 159-73, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-18987106

RESUMO

BACKGROUND: There are two distinct phenotypes of multiple sclerosis (MS) in Asians, manifesting as optic-spinal (OSMS) and conventional (CMS) forms. In Japan, four nationwide surveys of MS have been conducted. The first three were in 1972, 1982, and 1989, and we performed the fourth in 2004. RESULTS: The recent survey showed six main findings as follows: (1) a four-fold increase in the estimated number of clinically definite patients with MS in 2003 (9900; crude MS prevalence, 7.7/100,000) compared with 1972; (2) a shift in the peak age at onset from early 30s in 1989 to early 20s in 2003; (3) a successive proportional decrease in optic-spinal involvement in clinically definite patients with MS; (4) a significant north-south gradient for the CMS/OSMS ratio; (5) after subdivision of the mainland (30-45 degrees North) into northern and southern parts at 37 degrees N, northern-born northern residents (northern patients) showed a significantly higher CMS/OSMS ratio and higher frequency of brain lesions fulfilling the Barkhof criteria (Barkhof brain lesions) than southern-born southern residents (southern patients); (6) among northern patients, the absolute numbers of patients with CMS and those with Barkhof brain lesions rapidly increased with advancing birth year. CONCLUSIONS: These findings suggest that MS phenotypes are drastically altered by environmental factors, such as latitude and "Westernization."


Assuntos
Povo Asiático/estatística & dados numéricos , Meio Ambiente , Esclerose Múltipla/classificação , Esclerose Múltipla/etnologia , Adulto , Distribuição por Idade , Idade de Início , Cultura , Emigração e Imigração/estatística & dados numéricos , Feminino , Geografia , Inquéritos Epidemiológicos , Humanos , Japão/epidemiologia , Modelos Logísticos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/patologia , Fenótipo , Prevalência , População Branca
6.
Mult Scler ; 14(8): 1044-55, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18573819

RESUMO

CD4(+) T cells that lack surface expression of the CD28 co-stimulatory molecule (CD4(+)CD28(-) T cells) were expanded in peripheral blood of patients with multiple sclerosis (MS) [5.20 +/- 1.67% vs 13.00 +/- 2.68% (healthy controls (HC) versus patients with MS)]. Both the CD4(+)CD28(+) and CD4(+)CD28(-) T-cell populations of patients with MS produced higher levels of interferon (IFN)-gamma compared with those in HC. In particular, the proportion of IFN-gamma(+) cells among CD4(+)CD28(-) T cells from patients with MS was considerably high. However, expression of co-stimulatory molecules including inducible costimulator (ICOS), activating natural killer receptors, or members of tumor necrosis factor receptor family that replace CD28 in CD4(+)CD28(-) T cells of patients with MS could not be identified. A unique subpopulation bearing the CD45RA(high)CCR7(-) phenotype was identified among the CD4(+)CD28(-) T cells of some patients with MS. Because only MS samples contained this CD45RA(high)CCR7(-) population attributed to terminally differentiated effector memory cells and lacked naive CD45RA(high)CCR7(+) cells, we suggest that CD4(+)CD28(-) T cells of patients with MS represent a cell population which is in more differentiated state than healthy subjects. In patients treated with IFN-beta-1b, IFN-gamma production from CD4(+)CD28(+) T cells was suppressed compared with that in untreated patients. On the contrary, in the CD4(+)CD28(-) population, production of IFN-gamma in IFN-beta-1b-treated patients was not significantly suppressed compared with that in untreated patients with MS. Thus, an additional treatment strategy that specifically targets this cell population may enhance the beneficial effect of IFN-beta on MS.


Assuntos
Antígenos CD28/genética , Linfócitos T CD4-Positivos/imunologia , Interferon gama/biossíntese , Esclerose Múltipla Recidivante-Remitente/imunologia , Adulto , Antígenos CD28/imunologia , Primers do DNA , Feminino , Citometria de Fluxo , Humanos , Interferon beta-1b , Interferon beta/uso terapêutico , Interferon gama/sangue , Masculino , Esclerose Múltipla Recidivante-Remitente/tratamento farmacológico , RNA/genética , Valores de Referência , Engenharia Tecidual
7.
Mult Scler ; 14(7): 887-92, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-18573833

RESUMO

BACKGROUND: We previously reported that prevalence of multiple sclerosis (MS) in Japan was 8.6/100,000 individuals in 2001. This was much higher than prevalence previously reported from Asian countries. A second epidemiologic survey was conducted to assess changes in MS prevalence and incidence over the last 30 years in Tokachi province of Hokkaido, the northernmost island of Japan. METHODS: The authors studied the frequency of MS in the community of Tokachi Province, where the population has stabilized between 350,000 and 360,000 over the last 30 years. The survey was conducted at the same institutions using the same methods as the first survey in 2001. RESULTS: On March 31, 2006, 47 subjects satisfied Poser's criteria for MS. The prevalence rate increased from 8.6 to 13.1/100,000 individuals between 2001 and 2006. The prevalence of conventional MS (C-MS) increased in five years although the prevalence of optic-spinal MS (OS-MS) did not increase. The mean annual incidence increased from 0.15 (1975-1989) to 0.68 (1990-2004). CONCLUSIONS: The results show the highest MS prevalence in Asia; the increase in MS prevalence in Tokachi Province may be due to increased incidence after 1990.


Assuntos
Esclerose Múltipla/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Coleta de Dados , Feminino , Humanos , Incidência , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/patologia , Prevalência , Medula Espinal/patologia
8.
Mult Scler ; 13(2): 199-207, 2007 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17439885

RESUMO

Understanding the spectrum of idiopathic inflammatory demyelinating disorders (IIDD) of the central nervous system is an important issue for accurate diagnosis and advancing research on the pathogenesis as well as treatment strategies, but the nosology and the classification of the IIDD remains confusing. Until now, we have tried to apply each disorder within the spectrum to an adequate co-ordinate on a two-dimensional plane. One axis is clinical course and the other is lesion distribution. We reviewed some disorders of the IIDD spectrum, and our recent findings on the fulminant nature of each attack and the expansion of each lesion, which we called attack-related severity in Japanese multiple sclerosis (MS). From our findings and the literature, attack-related severity appears to be a third important factor, in addition to lesion distribution and clinical course. Introduction of the third axis produces a three-dimensional space for a better understanding of the heterogeneous characteristics of IIDD and 'MS' syndrome, and can advance treatment strategies for these disorders. As severe attacks seem to be relatively common in Asians but rare in the west, ethnic-related heterogeneity should be considered in understanding the spectrum of IIDD, and there is an urgent need to develop a common general concept of the spectrum, especially for MS.


Assuntos
Esclerose Múltipla/patologia , Esclerose Múltipla/fisiopatologia , Neuromielite Óptica/patologia , Neuromielite Óptica/fisiopatologia , Índice de Gravidade de Doença , Doença Aguda , Humanos
9.
Rheumatology (Oxford) ; 46(5): 776-82, 2007 May.
Artigo em Inglês | MEDLINE | ID: mdl-17307753

RESUMO

OBJECTIVES: A polymorphism of APRIL, c.199G > A (Gly67Arg), has been reported to be associated with systemic lupus erythematosus (SLE) in Japanese. To identify the causative polymorphism, we screened for polymorphisms of APRIL as well as TWEAK (TNFSF12), a closely located gene that generates a fusion protein TWE-PRIL by intergenic splicing. Association of APRIL and TWEAK with rheumatoid arthritis (RA) was examined in parallel. METHODS: Polymorphisms were screened by direct sequencing. Association was analysed by case-control analysis using 266 SLE, 298 RA and 208 healthy individuals. Allele-specific difference in the mRNA level was examined using RNA difference plot analysis. Serum APRIL level was measured by ELISA. RESULTS: The protective effect of APRIL c.199A/A homozygotes in SLE was replicated (odds ratio 0.50, 95% confidence interval 0.30-0.83, P = 0.0073; pooled P = 0.0001, Pcorr = 0.007). In addition, association of c.287A > G (Asn96Ser, P = 0.0064, allele frequency) and c.*263C > T (3' untranslated region, P = 0.025, allele frequency) was detected. c.199G-c.287A (67Gly-96Asn) haplotype was found to confer risk for SLE, while c.199A-c.287G (67Arg-96Ser) was protective. Association of TWEAK was observed neither for SLE nor RA. APRIL mRNA was increased in SLE-associated c.*263T allele. In addition, serum APRIL was undetectable in all six healthy controls homozygous for the protective c.199A-c.287G haplotype (P = 0.015). CONCLUSIONS: In addition to replicating the protective role of APRIL c.199A/A, two additional SNPs in APRIL were found to be associated with SLE. Presence of a protective haplotype and a risk haplotype was demonstrated. The mechanism of association was suggested to be altered expression at the protein and mRNA levels.


Assuntos
Povo Asiático/genética , Lúpus Eritematoso Sistêmico/genética , Polimorfismo Genético , Membro 13 da Superfamília de Ligantes de Fatores de Necrose Tumoral/genética , Adulto , Idoso , Estudos de Casos e Controles , Citocina TWEAK , Ensaio de Imunoadsorção Enzimática/métodos , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Japão , Ligantes , Lúpus Eritematoso Sistêmico/sangue , Masculino , Pessoa de Meia-Idade , RNA Mensageiro/análise , Membro 13 da Superfamília de Ligantes de Fatores de Necrose Tumoral/sangue , Fatores de Necrose Tumoral/genética
10.
Scand J Rheumatol ; 35(4): 268-72, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16882589

RESUMO

OBJECTIVE: To investigate the effect of methotrexate (MTX) on cytokine production by activated CD4+ T-cells in patients with rheumatoid arthritis (RA). METHODS: The effect of MTX on intracellular expression of interferon-gamma (IFN-gamma) and interleukin-4 (IL-4), and cell surface expression of signalling lymphocytic activation molecule (SLAM) from freshly isolated peripheral blood mononuclear cells (PBMCs), and after in vitro culture with or without MTX, was analysed with flow cytometry in 18 patients with RA and 20 healthy controls. RESULTS: Intracellular expression of IFN-gamma and IL-4 on freshly isolated CD4+ T-cells was significantly higher in patients with RA than in the controls (p<0.05). Intracellular expression of both IFN-gamma and IL-4 after culture with MTX was significantly lower than those after culture without MTX in patients with RA. Although no significant difference was observed in SLAM expression on freshly isolated CD4+ T-cells between patients with RA and the controls, MTX significantly decreased SLAM expression on both activated IFN-gamma+ and IL-4+CD4+ T-cells in patients with RA. CONCLUSION: In vitro modulation of the cytokine network by MTX, IFN-gamma, and IL-4 is one of the major targets for MTX, and production of IFN-gamma and IL-4 by PBMCs may be suppressed by SLAM on activated CD4+ T-cell in patients with RA.


Assuntos
Antígenos CD/efeitos dos fármacos , Antirreumáticos/farmacologia , Artrite Reumatoide/metabolismo , Citocinas/efeitos dos fármacos , Metotrexato/farmacologia , Receptores de Superfície Celular/efeitos dos fármacos , Linfócitos T Auxiliares-Indutores/efeitos dos fármacos , Idoso , Citocinas/metabolismo , Relação Dose-Resposta a Droga , Feminino , Humanos , Interferon gama/metabolismo , Interleucina-4/metabolismo , Masculino , Pessoa de Meia-Idade , Membro 1 da Família de Moléculas de Sinalização da Ativação Linfocitária
11.
Mult Scler ; 12(1): 19-23, 2006 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-16459716

RESUMO

Apart from its unique lesion distribution pattern, the opticospinal form of multiple sclerosis (OSMS) is distinct among Japanese patients who satisfy the diagnostic criteria of MS. OSMS has been suggested to be strongly associated with HLA-DPB1*0501 in Japanese. However, association of DPB1*0301 with non-OSMS and lack of DPB1*0301 in OSMS were also reported. To verify the role of DPB1*0501 and DPB1*0301 in Japanese MS patients we determined the frequencies of these alleles in 26 patients with OSMS, 167 with non-OSMS and 156 normal subjects, who were all residents of Hokkaido, the northernmost island of Japan. All (100%) OSMS were negative for DPB1*0301 while 32 (19%) of the non-OSMS were positive for the allele. In DPB1*0301-negatives, the frequencies of DPB1*0501 in OSMS (85%) and non-OSMS (82%) were similar, but both were higher than in the controls (66%). In DPB1*0301-positives, the frequency of DPB1*0501 was low but similar in non-OSMS (12/32; 38%) and controls (6/14; 43%). Periventricular white matter lesions (PVL) were noted in 31 of 32 (97%) DPB1*0301-positive non-OSMS patients but in only 22 out of 135 (16%) DPB1*0301-negative non-OSMS patients and two out of 26 (8%) OSMS patients. Our findings indicate that DPB1*0501 plays an important role in the development of MS in general, but not in OSMS. The strong association of DPB1*0501 with OSMS may be due to the over-representation of the DPB1*0301 allele among individuals in the non-OSMS group. In addition, DPB1*0301 might be relevant to the development of periventricular lesions in Japanese patients with MS.


Assuntos
Antígenos HLA-DP/genética , Esclerose Múltipla/imunologia , Adulto , Idade de Início , Feminino , Frequência do Gene , Cadeias beta de HLA-DP , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/genética , Fenótipo
12.
Lupus ; 13(1): 24-31, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-14870914

RESUMO

The objective of this study was to determine the expression and activity of CTLA4 in T-cells of systemic lupus erythematosus (SLE) patients. Expression of CTLA4 on freshly isolated peripheral blood T-cells was evaluated in 33 SLE patients and 25 controls using flow cytometry. The T-cells from 19 SLE patients and 22 controls were stimulated and cultured with Chinese hamster ovary cells expressing CD80 (CHO-CD80) or with CHO cells. T-cell proliferation was determined with [3H] thymidine incorporation (CPM), and the inhibitory effect of CTLA4 on T-cell proliferation was evaluated by the ratio of CPM for T-cells with CHO-CD80 cells to that of T-cells with CHO cells (the CHO-CD80/CHO ratio). Intracellular CTLA4 expression in freshly isolated peripheral blood T-cells was significantly higher in SLE patients than the controls (P < 0.05), but there was no correlation with clinical features or disease activity. The CHO-CD80/CHO ratio of SLE patients was significantly higher than that of the controls (P < 0.05). Among SLE patients, the CHO-CD80/CHO ratio of patients with lupus nephritis was significantly higher than that of patients without lupus nephritis (P < 0.05). In conclusion, our data suggest that CTLA4 expression is not impaired in SLE patients, but there is a possibility of decreased inhibitory effect of CTLA4 involved in the pathogenesis of SLE.


Assuntos
Antígenos de Diferenciação/imunologia , Antígenos CD28/imunologia , Lúpus Eritematoso Sistêmico/imunologia , Linfócitos T/imunologia , Adolescente , Adulto , Idoso , Anticorpos Monoclonais/análise , Antígenos CD , Antígenos de Diferenciação/metabolismo , Antígeno B7-1/imunologia , Antígeno B7-1/metabolismo , Antígenos CD28/metabolismo , Antígeno CTLA-4 , Feminino , Citometria de Fluxo , Imunofluorescência , Humanos , Lúpus Eritematoso Sistêmico/metabolismo , Ativação Linfocitária , Masculino , Pessoa de Meia-Idade , Linfócitos T/metabolismo
13.
Ann Rheum Dis ; 63(1): 50-3, 2004 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-14672891

RESUMO

OBJECTIVE: To determine the long term prognosis of children of patients with systemic lupus erythematosus (SLE). METHODS: Children of patients with SLE were invited to attend our clinic for physical examination and laboratory tests. A total of 195 children (aged 4 months to 26 years; male = 82, female = 113) were examined in 1991, 1995, 1997, and 1998. RESULTS: Two cases were diagnosed as SLE at the first visit and were excluded from the second visit. A significantly higher percentage (52/195 (27%)) of patients were positive for antinuclear antibodies (ANA) at a cut off serum dilution of 1/40 compared with controls (4/57 (7%)). ANA were detected more frequently in female subjects than in men (p<0.05). Forty four subjects were examined on more than two occasions. Nine of the 10 patients who were positive for ANA at the second visit were girls aged 4-8 years. The incidence of anti-DNA and antiphospholipid antibodies in children of patients with SLE was similar to that in the controls. CONCLUSIONS: The finding that children, especially girls, born to maternal lupus patients had a high positive rate for ANA suggests that a genetic factor is involved in SLE pathogenesis. Longitudinal observation of these patients may provide important clinical information and clues to the pathogenesis of SLE.


Assuntos
Lúpus Eritematoso Sistêmico/genética , Adolescente , Adulto , Anticorpos Anticardiolipina/sangue , Anticorpos Antinucleares/sangue , Antígenos Nucleares/imunologia , Criança , Pré-Escolar , DNA/imunologia , Feminino , Seguimentos , Humanos , Lactente , Lúpus Eritematoso Sistêmico/imunologia , Masculino , Prognóstico
14.
Neurology ; 61(3): 384-6, 2003 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-12913203

RESUMO

The authors describe a family in which two individuals have clinical distal myopathy with rimmed vacuoles (DMRV). While the clinical and most of the pathologic features in these patients were compatible with a diagnosis of DMRV, the presence of inflammatory changes in the connective tissue between muscle fibers was not. Gene analysis revealed a compound heterozygous mutation in these individuals, characterized by V572L and I472T.


Assuntos
Carboidratos Epimerases/genética , Complexos Multienzimáticos/genética , Distrofias Musculares/diagnóstico , Distrofias Musculares/genética , Fosfotransferases (Aceptor do Grupo Álcool)/genética , Adulto , Substituição de Aminoácidos , Tecido Conjuntivo/patologia , Análise Mutacional de DNA , Genes Recessivos , Heterozigoto , Humanos , Japão , Masculino , Músculo Esquelético/patologia , Distrofias Musculares/patologia , Mutação de Sentido Incorreto , Miosite/patologia , Vacúolos/patologia
15.
Mult Scler ; 9(4): 382-6, 2003 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-12926843

RESUMO

The relation between apolipoprotein (APOE) gene polymorphisms and disease progression of multiple sclerosis (MS) is controversial. The present study was designed to investigate the relation between APOE gene polymorphisms and Japanese patients with MS. We analysed the frequencies of APOE gene polymorphisms in 135 MS patients and 134 healthy controls, using PCR-RFLP. The results showed no significant differences in the distribution of APOE gene polymorphisms between MS patients and controls. With regard to disease progression, there was no association between APOE gene polymorphisms and epsilon4 allele positivity and disease progression index (EDSS/ years). Furthermore, in patients with more than 10 years of disease onset, there were no significant differences between the frequencies of epsilon4 allele and patients with EDSS of more than 6. Although the low rate of epsilon4 allele in Japan should be taken into consideration, our results showed no relation between APOE gene polymorphisms and Japanese patients with MS.


Assuntos
Apolipoproteínas E/genética , Esclerose Múltipla Crônica Progressiva/genética , Esclerose Múltipla Recidivante-Remitente/genética , Polimorfismo Genético , Adulto , Idade de Início , Apolipoproteína E3 , Apolipoproteína E4 , Feminino , Frequência do Gene , Haplótipos , Humanos , Japão , Masculino , Pessoa de Meia-Idade
16.
Acta Neurol Scand ; 108(1): 47-51, 2003 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-12807393

RESUMO

OBJECTIVES: Rippling muscle disease (RMD) is a rare myopathy characterized by percussion-induced rapid muscle contractions, muscle mounding, and rippling. Recently a caveolin-3 gene (CAV3) mutation was identified in patients with autosomal dominant RMD. The objective of this study was to determine whether a similar mutation was present in two Japanese families with this condition. PATIENTS AND METHODS: Clinical examination, mutational analysis, and muscle immunohistochemistry were carried out in six patients from two Japanese RMD pedigrees. RESULTS: Apart from the atrophy of the intrinsic muscles in their hands and a slight muscle weakness in their fingers, the clinical features of our patients were compatible with RMD. Our investigation revealed a CAV3 missense mutation, i.e. Arg26Gln in both families. Immunohistochemistry performed on a muscle biopsy specimen showed reduced caveolin-3 surface expression. CONCLUSIONS: Japanese RMD also appears to result from a CAV3 mutation.


Assuntos
Caveolinas/genética , Doenças Genéticas Inatas/genética , Doenças Genéticas Inatas/fisiopatologia , Contração Muscular/fisiologia , Músculo Esquelético/fisiopatologia , Doenças Musculares/genética , Doenças Musculares/fisiopatologia , Mutação/genética , Adulto , Caveolina 3 , Criança , Pré-Escolar , Feminino , Doenças Genéticas Inatas/patologia , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/patologia , Doenças Musculares/patologia , Linhagem
17.
Neurology ; 60(4): 647-51, 2003 Feb 25.
Artigo em Inglês | MEDLINE | ID: mdl-12601107

RESUMO

BACKGROUND: Oligoclonal IgG bands (OCB) are present in most patients with MS in Western countries; however, in Japanese MS patients, the OCB-positive rate is not as high. A relationship between immunogenetic backgrounds, namely, human leukocyte antigen (HLA) DR2 and DR4 positivity, and OCB production in MS patients from Hokkaido, the northernmost island of Japan, has been previously suggested by the authors. OBJECTIVES: To investigate the role of OCB in Japanese MS and to verify the interaction between immunogenetic backgrounds and OCB positivity. METHODS: OCB, DR2(15), and DR4 positivity were studied in 45 patients with newly diagnosed MS. In addition to confirming the authors' previous findings, the clinical and demographic features, MRI findings, OCB positivity, and DRB1*15 and DRB1*04 polymorphisms of an expanded data set of 99 MS patients were investigated by using multivariate analysis. Patients with opticospinal MS (OS-MS) were excluded from this study. RESULTS: A relatively low OCB-positive rate (53.3%), HLA-DR15 association with OCB-positive MS (p = 0.0044), and DR4 association with OCB-negative MS (p = 0.0410) were confirmed. DR15 was not associated with OCB-negative MS. Demographic features, disease course, and disability were similar in the OCB-negative and OCB-positive group, whereas there was a preponderance of women in the OCB-positive group. An independent negative association of DRB1*0405 (p = 0.0021, adjusted odds ratio = 0.21) with OCB positivity was found. CONCLUSIONS: MS is heterogeneous in its association with HLA alleles, and based on the immunogenetic differences, the MS patients in this population include at least two HLA-related subpopulations with and without OCB.


Assuntos
Antígenos HLA-DR/genética , Esclerose Múltipla/genética , Esclerose Múltipla/imunologia , Bandas Oligoclonais/imunologia , Adolescente , Adulto , Idade de Início , Idoso , Avaliação da Deficiência , Feminino , Frequência do Gene , Subtipos Sorológicos de HLA-DR , Antígeno HLA-DR2/genética , Antígeno HLA-DR4/genética , Cadeias HLA-DRB1 , Teste de Histocompatibilidade , Humanos , Japão/epidemiologia , Modelos Logísticos , Imageamento por Ressonância Magnética/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/epidemiologia , Razão de Chances , Bandas Oligoclonais/sangue , Bandas Oligoclonais/líquido cefalorraquidiano , Polimorfismo Genético , Distribuição por Sexo
18.
Mod Rheumatol ; 13(1): 87-9, 2003 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24387123

RESUMO

Abstract We report a case of systemic sclerosis (SSc) associated with inclusion body myositis (IBM). A 58-year-old man was diagnosed as having SSc at the age of 35 years, and had been suffering from chronic progressive weakness and atrophy of the limb muscles. A diagnosis of IBM was established by muscle biopsy. Although most such patients show a poor response to corticosteroids and immunosupressants, glucocorticoid therapy was effective in the present case.

19.
J Endocrinol Invest ; 26(12): 1208-12, 2003 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-15055474

RESUMO

Hashimoto's thyroiditis (HT) is an autoimmune disease of the thyroid gland, and like many other autoimmune diseases, it is associated with the HLA and CTLA-4 gene. We have examined the distribution of the HLA DRB4*0101 allele and a CTLA-4 exon 1 A/G polymorphism in Japanese HT patients and controls and investigated possible interactions of these genes with thyroid function. Seventy Japanese HT patients and 105 controls were included in this study. HT was diagnosed on the basis of positivity for thyroid peroxidase (TPO) autoantibodies and the presence of a palpable diffuse goiter. Genotyping was performed by polymerase chain reaction (PCR)-based methods. CTLA-4-GG or -AG was more prevalent in the patients, and the odds ratio for the G allele was 4.95. The frequency of DRB4*0101-positive individuals was significantly higher in HT (odds ratio=2.17). The TSH values of HT patients at the time of diagnosis were compared to CTLA-4 genotype and HLA-DRB4*0101 positivity. They were slightly higher in the CTLA-4-AG group than in the -GG group and significantly higher in the HLA-DRB4*0101-positive group than in the -negative group (p<0.01). When the TSH values were compared in 4 groups based on positivity or negativity for HLA-DRB4*0101 and CTLA-4 GG or AG, they were found to be significantly higher in the CTLA-4-AG and HLA-DRB4*0101-positive group than in the 3 other groups (F=5.75, 3 degrees of freedom, p<0.01). These findings suggest that the interaction between the HLA-DRB4 and CTLA-4 genes determines the thyroid function of TPO-positive goitrous Japanese HT patients.


Assuntos
Antígenos de Diferenciação/genética , Povo Asiático/genética , Antígenos HLA-DR/genética , Glândula Tireoide/fisiopatologia , Tireoidite Autoimune/fisiopatologia , Adenina , Antígenos CD , Antígeno CTLA-4 , Estudos de Casos e Controles , Éxons , Feminino , Guanina , Cadeias HLA-DRB1 , Cadeias HLA-DRB4 , Humanos , Polimorfismo Genético , Tireoidite Autoimune/sangue , Tireoidite Autoimune/genética , Tireotropina/sangue
20.
Mult Scler ; 8(6): 475-8, 2002 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-12474986

RESUMO

In multiple sclerosis (MS), beta-adrenergic receptor densities on peripheral blood mononuclear cells are enhanced, while the astrocytes present in plaques lack beta2 adrenergic receptor (beta2AR) expression. This differentially altered expression suggests that beta2ARs may influence the pathogenesis of MS. In the present study, we investigated the association of polymorphisms of the beta2AR gene with the occurrence of MS. Our results showed no significant differences in the distribution of the polymorphisms between MS patients overall and control subjects. Furthermore, no association was observed between the presence of beta2AR gene polymorphisms and clinical characteristics, such as age at disease onset and disease severity. While a trend towards an increase of the Gly allele frequency in codon 16 was observed in the secondary-progressive MS, this result was not significantly different from that observed in relapsing-remitting MS patients or control subjects. Together, our findings suggest that the presence of beta2AR gene polymorphisms may be inconclusive in the susceptibility to MS or in the clinical characteristics of Japanese patients with MS and, therefore, need further studies.


Assuntos
Esclerose Múltipla/genética , Polimorfismo Genético , Receptores Adrenérgicos beta 2/genética , Adulto , Suscetibilidade a Doenças/epidemiologia , Feminino , Genótipo , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/etnologia
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