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1.
Int Endod J ; 49(7): 663-9, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26118334

RESUMO

AIM: To test whether actin stabilization by jasplakinolide induces inhibition of cell viability and apoptosis in epithelial cell rests of Malassez (ERM). METHODOLOGY: ERM derived from porcine were spread in a 96-well dish (5 × 10(4) /well) using Dulbecco's modified Eagle's medium. The actin-specific stabilization reagent, jasplakinolide, was incorporated into the culture medium and incubated for 24 h. To evaluate cell viability, the WST-1 assay was carried out and absorption (450 nm) was measured. To detect apoptotic cells, monoclonal antibody to single-strand DNA (ssDNA) was used and absorption (405 nm) was measured. Actin stabilization and apoptosis induced by jasplakinolide were morphologically investigated by staining with Alexa Fluor 568 phalloidin and observed under a fluorescent microscope. As a negative control, DMSO was used instead of jasplakinolide. Differences between the jasplakinolide-treated group and the control group were analysed statistically using the Student's t-test. RESULTS: Cell viability decreased in a concentration-dependent manner, and cell viability in the jasplakinolide-treated ERM was lower than that in nontreated ERM (n = 16, P < 0.01). Apoptotic cells in the jasplakinolide-treated ERM were more frequently detected compared to that in nontreated ERM (n = 16, P < 0.01). Morphologically, shrinkage, irregular forms and fragmentation of nuclei suggesting apoptotic bodies were observed in jasplakinolide-treated ERM, whilst actin filaments were extended in non-treated ERM. CONCLUSION: Actin stabilization by jasplakinolide inhibited cell viability and induced apoptosis in epithelial cell rests of Malassez.


Assuntos
Actinas/fisiologia , Apoptose/fisiologia , Células Epiteliais/fisiologia , Ligamento Periodontal/fisiologia , Actinas/efeitos dos fármacos , Animais , Apoptose/efeitos dos fármacos , Sobrevivência Celular/efeitos dos fármacos , Sobrevivência Celular/fisiologia , Células Cultivadas , Depsipeptídeos/farmacologia , Células Epiteliais/efeitos dos fármacos , Ligamento Periodontal/citologia , Suínos , Raiz Dentária/citologia , Raiz Dentária/fisiologia
2.
J Dent Res ; 86(9): 903-7, 2007 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17720864

RESUMO

AMP-activated protein kinase (AMPK) is a stress-responsive enzyme involved in cell adaptation to an energy crisis. We hypothesized that hypoxia suppresses oxidative phosphorylation and ATP production, resulting in AMPK activation to protect cells. We investigated the effects of hypoxia on cell proliferation, the expression of AMPK and hypoxia-inducible factor 1alpha (HIF-1alpha), the activation of AMPK, and the relationship between AMPK and HIF-1alpha expression in rat dental pulp RPC-C2A cells. AMPK in the cells was composed of catalytic alpha1, and regulatory beta1 and gamma1 subunit isoforms. Cell proliferation was initially suppressed under hypoxia, but it increased thereafter, together with an increase in the expression of AMPK and HIF-1alpha, and the activation of AMPK. Down-regulation of AMPKalpha1 by siRNA inhibited cell proliferation under both normoxia and hypoxia, revealing that AMPK induction and activation were required for cell proliferation, although HIF-1alpha expression under hypoxia was not affected.


Assuntos
Polpa Dentária/enzimologia , Hipóxia/enzimologia , Complexos Multienzimáticos/biossíntese , Proteínas Serina-Treonina Quinases/biossíntese , Proteínas Quinases Ativadas por AMP , Análise de Variância , Animais , Western Blotting , Linhagem Celular , Proliferação de Células , Polpa Dentária/citologia , Ativação Enzimática , Indução Enzimática , Hipóxia/fisiopatologia , Subunidade alfa do Fator 1 Induzível por Hipóxia/biossíntese , Isoenzimas , RNA Interferente Pequeno/fisiologia , Ratos , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Estatísticas não Paramétricas
3.
Acta Neurol Scand ; 107(1): 31-7, 2003 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-12542510

RESUMO

OBJECTIVES: To clarify the clinical variability, including central nervous system (CNS) involvement, in X-linked Charcot-Marie-Tooth disease (CMTX) patients. MATERIAL AND METHODS: We clinically, pathologically and genetically studied six CMTX patients with distinct symptoms and four different GJB1 mutations. RESULTS: One patient with Val63Ile had deafness, low intelligence, saccadic eye movement, upper extremity distal dominant muscle weakness and normal sensation. Another patient with Glu186Lys had severe sensorineural deafness at the age of 6 years, but did not develop muscle weakness until the age of 20 years. Two patients with Arg22Gln had typical CMT1A-like clinical features, no CNS symptoms and obvious onion bulb formations. Two siblings with deletion of the entire GJB1 gene had mild to moderate lower extremity muscle weakness and sensory disturbance without CNS involvement. CONCLUSION: These findings suggest that some gain of function mutations of GJB1 may be related to CNS symptoms because the patients with GJB1 deletion only had peripheral neuropathy, although other unknown associated factors may contribute to their clinical phenotypes.


Assuntos
Doença de Charcot-Marie-Tooth/genética , Cromossomos Humanos X , Conexinas/genética , Mutação/genética , Exame Neurológico , Aberrações dos Cromossomos Sexuais , Adulto , Idoso , Biópsia , Doença de Charcot-Marie-Tooth/diagnóstico , Deleção Cromossômica , Análise Mutacional de DNA , Surdez/diagnóstico , Surdez/genética , Seguimentos , Genes Dominantes/genética , Humanos , Inteligência/genética , Masculino , Pessoa de Meia-Idade , Debilidade Muscular/diagnóstico , Debilidade Muscular/genética , Mutação de Sentido Incorreto/genética , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Motilidade Ocular/genética , Fenótipo , Nervo Sural/patologia , Proteína beta-1 de Junções Comunicantes
4.
Ann Neurol ; 50(2): 261-5, 2001 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-11506412

RESUMO

Patients with Ullrich's disease have generalized muscle weakness, multiple contractures of the proximal joints, and hyperextensibility of the distal joints. Recently, we found a deficiency of collagen VI protein in two patients with Ullrich's disease. In this study, we detected a homozygous 26 bp deletion in exon 14 of the collagen VI alpha 2 gene (COL6A2) in one patient. This mutation causes a frameshift and a premature termination codon, and results in a truncated collagen VI alpha 2 chain. Our data suggest that at least some cases of Ullrich's disease result from recessive mutations in COL6A2.


Assuntos
Doenças do Colágeno/etiologia , Doenças do Colágeno/genética , Colágeno Tipo VI/genética , Mutação da Fase de Leitura/genética , Adulto , Doenças do Colágeno/patologia , Análise Mutacional de DNA , Humanos , Imuno-Histoquímica , Masculino , Músculos/patologia
5.
J Hum Genet ; 46(6): 307-13, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11393532

RESUMO

To clarify the pathomechanism in three patients with X-linked Charcot-Marie-Tooth disease (CMTX) and unique clinical features, we studied three connexin (Cx) 32 (GJB1) mutants with respect to cellular localization in cultured cells. Wild-type Cx32 and three Cx32 mutants (Va163Ile and Glu186Lys, obtained from CMTX patients with hearing impairment; and Arg22Gln, obtained from a CMTX patient with a fair number of onion-bulb formations) were transfected to rat pheochromocytoma cells (PC12). We investigated the expression of Cx32 protein in each clone by immunoblotting and immunohistochemical staining. While Cx32 protein with the Arg22Gln mutation was detectable immunohistochemically only in the cytoplasm, Cx32 protein with the Va163Ile or Glu186Lys mutation was detected in both the plasma membrane and the cytoplasm. Cx32 protein with the wild-type sequence was detected mostly in the plasma membrane, with plaques indicating the existence of active gap junction formation. These three Cx32 mutations associated with CMTX patients with unique clinical and pathological findings caused altered trafficking of the Cx32 protein. These altered expressions indicated loss of active gap junction formation with different expression abnormalities in these CMTX patients.


Assuntos
Doença de Charcot-Marie-Tooth/genética , Doença de Charcot-Marie-Tooth/metabolismo , Conexinas/genética , Conexinas/metabolismo , Mutação , Animais , Sequência de Bases , Transporte Biológico Ativo , Primers do DNA/genética , Ligação Genética , Humanos , Imuno-Histoquímica , Masculino , Células PC12 , Fenótipo , Ratos , Frações Subcelulares/metabolismo , Transfecção , Cromossomo X/genética , Proteína beta-1 de Junções Comunicantes
7.
J Neurol Sci ; 184(1): 15-9, 2001 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-11231027

RESUMO

Miyoshi myopathy, an autosomal recessive muscular dystrophy involving distal muscles, is caused by dysferlin mutations. We present clinical and genetic studies of two men and six women, aged 25-83 years, from a Japanese family with consanguineous marriages. Onset was between ages 17 and 59 years. Six of the patients had muscle involvement typical of Miyoshi myopathy, one initially had severe proximal muscle involvement, and one had scapuloperoneal-type muscle involvement. Three patients showed steppage gait. Genetic linkage analysis identified a maximum lod score of 3.34 (θ=0.00) at marker D2S292 in 2p13. Analysis of dysferlin revealed the mutation G2090T (Glu573Stop) in exon 19 in all affected patients. This is the largest Japanese family with Miyoshi myopathy showing intrafamilial phenotypic variation and sharing a common mutation in dysferlin.


Assuntos
Éxons/genética , Proteínas de Membrana , Proteínas Musculares/genética , Distrofias Musculares/genética , Mutação/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Códon sem Sentido , DNA/análise , DNA/genética , Disferlina , Família , Feminino , Ligação Genética/genética , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Debilidade Muscular/fisiopatologia , Linhagem , Fenótipo
8.
Rinsho Shinkeigaku ; 40(5): 490-3, 2000 May.
Artigo em Japonês | MEDLINE | ID: mdl-11002735

RESUMO

A 29-year-old Japanese man with Duchenne muscular dystrophy was placed on a mechanical ventilator support at 23 years of age and admitted to our hospital at 25 years of age. He had severe neck contracture deviated to the left side which resulted in dysphagia and microaspiration. At 29 years of age, he developed left lobar pneumonia accompanied by slight fever, back pain and a foul odor from the patient's sputum. Although the patient received broad spectrum antibiotics, pneumonia disseminated to the right lung. A week later, chest computed tomography was conducted which revealed tracheopulmonary-subcutaneous fistula, and a massive subcutaneous abscess with free air production. Drainage from the subcutaneous abscess was done through a chest tube; however, respiratory hypercapnia was not corrected and the patient died. From the culture of drained fluid, anaerobic bacteria including peptostreptococcus sp. were detected. This tracheopulmonary-subcutaneous fistula was thought to be caused by chronic microaspiration of mouth anaerobes, mechanical injury of the trachea under long term ventilator support, and decreased deep back muscle bulk with substitution of adipose tissue around the chest.


Assuntos
Abscesso/etiologia , Bactérias Anaeróbias , Infecções Bacterianas/etiologia , Fístula Cutânea/etiologia , Pneumopatias/etiologia , Distrofia Muscular de Duchenne/complicações , Respiração Artificial/efeitos adversos , Fístula do Sistema Respiratório/etiologia , Dermatopatias/etiologia , Doenças da Traqueia/etiologia , Doença Aguda , Adulto , Humanos , Masculino , Pneumonia Bacteriana/etiologia , Insuficiência Respiratória/etiologia
9.
Acta Neuropathol ; 100(3): 245-52, 2000 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-10965793

RESUMO

Although brain lesions have been described in some cases with HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP), little is known about the nature of brain lesion and its relation to the spinal cord lesion. In the present study, we performed histopathological analysis of the brain and the spinal cord of four autopsied cases with HAM/TSP to clarify the relationship between the brain and the spinal cord lesions. In two cases with active-chronic inflammation in the spinal cord, perivascular inflammatory infiltration was also seen in the brain, and the composition of cell subsets was similar both in the spinal cord and in the brain. No active inflammatory change was seen in the brain in two cases with inactive-chronic spinal cord lesions. Inflamed vessels were distributed mainly in the deep white matter and in the area between cerebral cortex and white matter of the brain. In the spinal cord inflamed vessels were mainly seen in the bilateral lateral and the ventral posterior columns. Parenchymal infiltration was diffused in the spinal cord but very sparse in the brain, suggesting the importance of parenchymal infiltration in the destruction of tissues. These results suggest that inflammatory changes occurred simultaneously in the spinal cord and in the brain, and that distribution of inflamed vessels closely correlated with the characteristics of vascular architecture of the brain and the spinal cord, which lead to a slow blood flow. This study may help promote a better understanding of the pathogenesis of HAM/TSP.


Assuntos
Sistema Nervoso Central/patologia , Sistema Nervoso Central/virologia , Paraparesia Espástica Tropical/patologia , Idoso , Vasos Sanguíneos/patologia , Vasos Sanguíneos/virologia , Encéfalo/irrigação sanguínea , Encéfalo/patologia , Encéfalo/virologia , Sistema Nervoso Central/fisiopatologia , Encefalite/patologia , Encefalite/virologia , Feminino , Fibrose/patologia , Fibrose/virologia , Humanos , Masculino , Pessoa de Meia-Idade , Paraparesia Espástica Tropical/fisiopatologia , Medula Espinal/irrigação sanguínea , Medula Espinal/patologia , Medula Espinal/virologia
11.
Muscle Nerve ; 22(12): 1727-30, 1999 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-10567090

RESUMO

We report a patient initially diagnosed as having ocular myasthenia gravis who showed progressive ophthalmoparesis and pseudoblepharospasm together with positive acetylcholine receptor antibodies. Repeated evaluation with high-frequency repetitive stimulation revealed an incremental response and elevated titers of antibodies against presynaptic calcium channels, confirming Lambert-Eaton myasthenic syndrome. Systemic evaluation revealed no malignant neoplasm but revealed euthyroid Hashimoto's disease. Immunomodulative therapy including plasma exchange and administration of an immunosuppressent (azathioprine) combined with a potassium-channel blocker (3,4-diaminopyridine) reduced the ocular abnormalities. We conclude that the ocular manifestations in this patient were probably caused by Lambert-Eaton myasthenic syndrome.


Assuntos
Blefarospasmo/etiologia , Síndrome Miastênica de Lambert-Eaton/diagnóstico , Oftalmoplegia/etiologia , Autoanticorpos/sangue , Diagnóstico Diferencial , Eletrodiagnóstico , Humanos , Síndrome Miastênica de Lambert-Eaton/complicações , Masculino , Pessoa de Meia-Idade , Debilidade Muscular/complicações , Miastenia Gravis/diagnóstico , Troca Plasmática , Receptores Colinérgicos/imunologia , Receptores Colinérgicos/metabolismo , Tireoidite Autoimune/complicações , Nervo Ulnar/fisiopatologia
12.
Neuromuscul Disord ; 9(6-7): 368-71, 1999 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-10545038

RESUMO

Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) has been reported as a new type of HMSN with the disease gene locus in the 3p14.1-q13 region. To further narrow down the gene locus, we performed fine linkage mapping using the linkage disequilibrium method. Analysis of DNA marker haplotypes and genetic cross-over sites showed the disease gene locus to be in the 3.1 cM interval bracketed by D3S1591 and D3S1281. Linkage disequilibrium analysis with DISMULT using 9 marker loci jointly in this region showed a lod score of 4.93 (P < 0.00000095). Consequently, the HMSN-P gene almost certainly lies on chromosome 3q13.1 and shows evidence of linkage disequilibrium.


Assuntos
Cromossomos Humanos Par 3 , Neuropatia Hereditária Motora e Sensorial/genética , Desequilíbrio de Ligação , Mapeamento Cromossômico , Troca Genética , Feminino , Marcadores Genéticos , Humanos , Escore Lod , Masculino , Linhagem
13.
Rinsho Shinkeigaku ; 39(7): 757-62, 1999 Jul.
Artigo em Japonês | MEDLINE | ID: mdl-10548916

RESUMO

We report a 20-year-old man with intractable myasthenia gravis successfully treated with total lymphoid irradiation (TLI). An encapsulated thymoma in the anterior mediastinum was resected as extended thymectomy by video-assisted thoracoscopic surgery at 2 months after the onset of ptosis and muscle weakness. Following treatments, such as ambenonium hydrochloride, an immunosuppression therapy (prednisolone and azatioprine), 5 courses of immunoadsorption therapy, and a high dose of cyclophosphamide and methylprednisolone, did not make persistent improvement of myasthenic symptoms. Ageusia occurred twice prior to myasthenic crises and subsided with other myasthenic symptoms after treatments. Steroid psychosis and secondary Cushing's syndrome made us to reduce the dose of prednisolone. Post-operative residual, recurrent, or metastatic thymus was not unveiled, then we added the low dose fractionated irradiation (1.5 Gy x 12 = 18 Gy) to the mediastinum. Three months after the irradiation, however, a crisis occurred and the titer of anti-acetylcholine receptor antibody increased up to 100 nmol/l. Therefore, we performed TLI (Mantle; 1.5 Gy x 9 = 13.5 Gy, paraaortic and inverted-Y; 1.5 Gy x 14 = 21 Gy), which brought about persistent improvement of myasthenic symptoms with decrease in the titer of anti-acetylcholine receptor antibody.


Assuntos
Irradiação Linfática , Miastenia Gravis/radioterapia , Adulto , Terapia Combinada , Humanos , Masculino , Miastenia Gravis/tratamento farmacológico , Tolerância a Antígenos Próprios , Timoma/complicações , Neoplasias do Timo/complicações , Resultado do Tratamento
14.
Neuromuscul Disord ; 9(4): 232-8, 1999 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-10399750

RESUMO

We report on two sisters with Dejerine-Sottas syndrome (DSS) who had a heterozygous Gly 167 Arg mutation in the myelin protein zero (MPZ) gene and hereditary stomatocytosis (HSt). Genetic haplotype analysis suggested that the allele with the MPZ gene mutation originated from maternal lineage. However, the parents, who were normal clinically and electrophysiologically, had no mutation in the MPZ gene. Therefore, the MPZ gene mutation in these sisters was due to germline mosaicism of the MPZ gene in their mother. Stomatocytosis was detected in their mother and a sister who had no neurological symptoms, and therefore autosomal dominant HSt was suspected in this family. As stomatocytosis is very severe in our patients with DDS, we speculate that the association of DSS with stomatocytosis is coincidental but may have additively affected erythrocyte morphology. To our knowledge, these are the first familial cases of DSS with a mutation due to germline mosaicism of the MPZ gene to be reported.


Assuntos
Anemia Hemolítica Congênita/genética , Neuropatia Hereditária Motora e Sensorial/genética , Mosaicismo/genética , Proteína P0 da Mielina/genética , Adulto , Substituição de Aminoácidos/genética , DNA/análise , DNA/genética , Contagem de Eritrócitos , Membrana Eritrocítica/química , Eritrócitos/fisiologia , Eritrócitos/ultraestrutura , Família , Feminino , Genes Recessivos/genética , Haplótipos , Neuropatia Hereditária Motora e Sensorial/sangue , Neuropatia Hereditária Motora e Sensorial/patologia , Humanos , Mutação/fisiologia , Linhagem , Nervo Sural/patologia
15.
J Neurol Sci ; 163(1): 86-9, 1999 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-10223417

RESUMO

We present a 73 year-old Japanese woman with localized scleroderma involving the right side of the scalp accompanied by continuous tingling pain, who developed insidiously progressive left hemiparesis. In magnetic resonance imaging of the brain, an infarct first appeared in the watershed region of the right middle cerebral artery territory and subsequently extended to deep white matter accompanied by scattered hemorrhages. Focal stenosis in the M2 portion of the right middle cerebral artery was revealed on magnetic resonance angiography, and the distal vessels were only shown faintly. A biopsy specimen from the sclerotic scalp lesion showed obvious thickening of vessel walls and mild mononuclear cell infiltration. We believe that the progressing ischemic stroke was caused by hemodynamic disturbances from localized sclerotic obstruction of the middle cerebral artery, with an autoimmune pathogenesis.


Assuntos
Infarto Cerebral/complicações , Esclerodermia Localizada/complicações , Idoso , Arteríolas/patologia , Encéfalo/patologia , Artérias Cerebrais/patologia , Infarto Cerebral/diagnóstico , Colágeno/análise , Progressão da Doença , Feminino , Hemiplegia/etiologia , Humanos , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Couro Cabeludo/patologia , Esclerodermia Localizada/diagnóstico , Esclerodermia Localizada/patologia
16.
Neurology ; 52(6): 1271-5, 1999 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-10214757

RESUMO

We found the association of a heterozygous novel MPZ gene point mutation, Ile62Phe in exon 2, with autosomal dominant motor and sensory neuropathy with focally folded myelin sheaths. Family study revealed that de novo Ile62Phe mutation on the MPZ gene occurred in the proband and was inherited by her children with early onset slowly progressive neuropathy. Our study suggests that the characteristic pathologic findings of the sural nerve in these patients are closely related to the site and nature of amino acid substitutions of the MPZ gene.


Assuntos
Neuropatia Hereditária Motora e Sensorial/genética , Bainha de Mielina/genética , Mutação Puntual , Criança , Pré-Escolar , Cromossomos Humanos Par 1/genética , Éxons , Feminino , Humanos , Microscopia Eletrônica , Linhagem , Nervo Sural/ultraestrutura
17.
Tissue Antigens ; 52(5): 444-51, 1998 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-9864034

RESUMO

The Nivkhi are a native people isolated in the Nogliki region of Sakhalin, Far East Russia, where our group recently recognized human T-cell lymphoma virus type I (HTLV-I) infection. In order to trace the Nivkhi's ethnic background and the HTLV-I carriers, we investigated HLA class I and II allele types of 53 Nivkhi (including four HTLV-I carriers). Major HLA class I alleles of the Nivkhi were A*24, A*02, B*40, B*48, B*27, B*35 with allele frequencies similar to the Orochon, a native people isolated in Northeast China. Major Nivkhi class II alleles were DRB1*0901, DRB1*1401, DRB1*1201, DRB1*1106 with allele frequencies similar to the Ainu in Hokkaido, Japan, but dissimilar to other Asian Mongoloids, including the general Japanese population. The same HLA class I and II allele frequencies are found in both Nivkhi HTLV-I carriers and the background population. A dendrogram of HLA class I alleles showed that the Nivkhi were closely related to the Orochon and Yakut, and remotely related to the Japanese, Ainu and other Asian Mongoloids. Interestingly, the Nivkhi were intermediately related to the Amerindians (Inuit, Tlingit and Andeans), a relationship closer than to the Japanese and Asian Mongoloids. These results suggested the Nivkhi might be related to some genetic group of Northeast Asian Mongoloids like the Orochon and Yakut, being infected with HTLV-I in the distant past before diverging into the current major Mongoloid ethnic groups.


Assuntos
Etnicidade/genética , Antígenos de Histocompatibilidade Classe II/genética , Antígenos de Histocompatibilidade Classe I/genética , Vírus Linfotrópico T Tipo 1 Humano , Adulto , Idoso , Alelos , Ásia , Povo Asiático/genética , Sequência de Bases , Feminino , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , América do Norte , Federação Russa , América do Sul
18.
Electromyogr Clin Neurophysiol ; 38(6): 377-80, 1998 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-9783125

RESUMO

We report a case of non-fluminent and mildly affected tetanus patient who showed afterdischarges following F waves in the affected extremity. The afterdischarges occurred following F waves and showed different configuration respond to each stimuli. Diazepam was also effective for spasms of our patient. This finding disappeared after treatment and showed a good correlation to clinical symptoms. These observations suggest that afterdischarges following F waves are induced by tetanus toxin which puts most of the motor neuron pool in a hyperactive state through its own action to the motor nerve including the spinal motor neuron.


Assuntos
Potenciais de Ação/fisiologia , Nervos Periféricos/fisiopatologia , Tétano/fisiopatologia , Idoso , Eletromiografia , Feminino , Humanos
19.
Ann Neurol ; 41(6): 771-80, 1997 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-9189038

RESUMO

We report the clinical, pathological, and genetic findings of 23 patients in 8 families with hereditary motor and sensory neuropathy (proximal dominant form) (HMSN-P) in Okinawa, Japan. The clinical features were unique with respect to autosomal dominant inheritance, Kennedy-Alter-Sung syndrome-like proximal dominant neurogenic atrophy, obvious sensory involvement, painful muscle cramp, fasciculations, areflexia, and high incidences of elevated creatine kinase levels, hyperlipidemia, and diabetes mellitus. Electrophysiological and pathological studies revealed typical motor and sensory axonal neuropathy, and decreased numbers of anterior born and dorsal ganglion cells, which suggested the presence of neuronopathy in HMSN-P. Genetic linkage studies showed a lod score of 4.04 (two-point analysis) in DNA marker D3S1284. Haplotype analysis showed that the gene locus of the disease was mapped to 3p14.1-q13 bracketed by D3S1285 and D3S1281. In this region, the patients' chromosomes showed an obvious increase in the allele frequency of five markers. One allele in D3S1591 was identical in all patients but had a low frequency in the control population. This finding suggested the presence of linkage disequilibrium and a common origin of this allele in all patients with HMSN-P. The HMSN-P described here is a new clinical entity characterized by unique clinical manifestations and a new gene locus.


Assuntos
Cromossomos Humanos Par 3 , Neuropatia Hereditária Motora e Sensorial/genética , Adulto , Diabetes Mellitus Tipo 2/complicações , Eletrofisiologia , Feminino , Ligação Genética , Intolerância à Glucose/complicações , Neuropatia Hereditária Motora e Sensorial/classificação , Neuropatia Hereditária Motora e Sensorial/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Debilidade Muscular , Músculos/patologia , Músculos/fisiopatologia , Linhagem , Transtornos de Sensação/complicações
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