Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patients.
Explore the source record for details and available documents.
Adrenoleukodystrophy↗
Biomedical subjects
T Miyatake
Publications and source records attributed to T Miyatake.
A family with hereditary juvenile dystonia-parkinsonism.
We report a family with autosomal dominant type hereditary juvenile dystonia-parkinsonism in which eight members in three generations exhibited parkinsonism, sleep benefit, marked efficacy of levodopa, wearing-off phenomenon, and dopa-induced choreic dyskinesia. However, one case showed mainly dystonic movement that worsened after administration of levodopa. The patients in this family showed neck dystonia, such as torticollis and retrocollis, in addition to foot dystonia and other dystonic movement, such as frequently lifting the thigh. From the family history and clinical findings, these patients are considered to have a specific form of hereditary dystonia-parkinsonism.
Adult↗
Heteroplasmic mitochondrial tRNA(Lys) mutation and its complementation in MERRF patient-derived mitochondrial transformants.
The heteroplasmic tRNA(Lys) mutation in the mitochondrial DNA (mtDNA) is responsible for the phenotypic expression and the transmission of MERRF syndrome. However, the genetic behaviors of the mutant and wild-type mtDNA molecules within a cell are still unknown. We demonstrated a clear genetic complementation of the mutant and wild-type mtDNAs, with a sharp threshold around 10% in the wild-type, in the MERRF transformants, and in their subclones by a cytoplast transfer of the mitochondria into an mtDNA-less cell line, rho o cell. By contrast, no interaction was observed between the two functionally complementary mtDNAs that were originally located in distinct organelles and sequentially introduced into a rho o cell line (genetic independence). These results imply that the sorting of the mtDNA molecules among mitochondria plays a crucial role in the phenotypic expression and transmission of the disease.
Chloramphenicol↗
Nitrite, nitrate and cGMP in the cerebrospinal fluid in degenerative neurologic diseases.
To investigate whether nitric oxide (NO) plays a role in degenerative neurologic disease (DND), we measured nitrite, nitrate and cyclic GMP in cerebrospinal fluid (CSF) samples from patients with Parkinson's disease (PD), spinocerebellar ataxia (SCA) and amyotrophic lateral sclerosis (ALS). We found no significant change in CSF nitrite, nitrate or cyclic GMP in patients with any DND compared with control values. These results suggest that NO production is preserved in PD, SCA and ALS.
Aged↗
Usefulness of electron microscopy in the diagnosis of cardiac sarcoidosis.
A 49-year-old man with cardiac sarcoidosis is presented. He suffered from congestive heart failure, and left ventricular asynergy and reduced function was evident by echocardiogram and left ventriculogram. A light microscopic examination of the endomyocardial biopsy revealed nonspecific myocarditis without giant cells or noncaseating granulomas. Under an electron microscope, however, several epithelioid cells were found in the specimen. The serum level of lysozyme was elevated. The patient had a past history of sarcoidosis of the eyes and lungs 22 years previously. Cardiac diseases presenting epithelioid cells other than sarcoidosis were clinically ruled out. Thus, the diagnosis of cardiac sarcoidosis was made based on both clinical and ultrastructural findings, and corticosteroid therapy was initiated. In the second biopsy, performed 4 months later, a noncaseating granuloma was found. Generally, the incidence of histological diagnosis of cardiac sarcoidosis by light microscopy is relatively low in endomyocardial biopsy specimens. The present case suggests that the addition of an ultrastructural examination may improve the diagnostic usefulness of the endomyocardial biopsy in cardiac sarcoidosis, since electron microscopy can clearly identify the presence of even one epithelioid cell.
Biopsy, Needle↗
Ganglioside characterization of a cell line displaying motor neuron-like phenotype: GM2 as a possible major ganglioside in motor neurons.
We have examined ganglioside compositions and the presence of sulfated glucuronyl glycolipids of immortalized motor neuron-like cell lines, neuroblastoma-spinal cord (NSC) hybrid cell lines established by fusing mouse neuroblastoma N18TG2 with motor neuron-enriched embryonic spinal cord cells. Among NSC cell lines, only NSC-34 aggregates acetylcholine receptors on co-cultured myotube and expresses a receptor for S-laminin, a neuromuscular junction specific basal lamina protein. GM2, which is only a minor ganglioside component of CNS, was the major component in NSC-34 occupying almost 75% of total gangliosides, whereas GD1a and GM3 were major species in the parental N18TG2, which had only 8.5% GM2. These results indicated that NSC lines have unique ganglioside pattern that is distinctive from other nervous tissues, and this pattern, especially that of NSC-34 cells, might reflect the characteristics of mouse spinal motor neuron gangliosides. Sulfated glucuronyl paragloboside was demonstrated to be present in N18TG2, however, it could not be detected in either of NSC cell lines. Even though the pathogenesis of amyotrophic lateral sclerosis remains unknown, autoimmunological participation has been suggested. Because high-titered antibody against GM2 has been observed in a patient with amyotrophic lateral sclerosis-like disease, GM2 which is possibly expressed on the surface of motor neurons might serve as a potential target antigen in this disorder.
Animals↗
Expression of growth inhibitory factor (GIF) in normal and injured rat brains.
Immunohistochemical study on growth inhibitory factor (GIF) in rat brain has revealed that a glial cell layer on the surface of cerebral cortex and the cells surrounding Purkinje cells has been reported. In addition, neurons in gray matter were weakly immunostained for GIF. In situ hybridization using digoxigenin-labeled single-strand RNA probes also demonstrated that most of the neurons and small round cells, which were presumably astrocytes, expressed GIF mRNA in the cerebral cortex of rat brain. These findings indicate that GIF is produced in neurons as well as in astrocytes. The most prominent findings in this study are, a very strong reaction of GIF and GIF mRNA in the reactive astrocytes around the site of injury induced by stab wound or kainic acid injection. These results raised the possibility that GIF may act as an acute-phase protein in reactive astrocytes and have a role in tissue repair.
Animals↗
Trial to establish an animal model of paraneoplastic cerebellar degeneration with anti-Yo antibody. 2. Passive transfer of murine mononuclear cells activated with recombinant Yo protein to paraneoplastic cerebellar degeneration lymphocytes in severe combined immunodeficiency mice.
Passive transfer of serum IgG or mononuclear cells from peripheral blood of a patient with paraneoplastic cerebellar degeneration (PCD) to rodents was carried out in order to examine the role of anti-Purkinje cell antibody (anti-Yo antibody) present in serum and cerebrospinal fluid of PCD patients. After a single injection of IgG into mouse brain, it was taken up by Purkinje cells and remained there for more than 36 h without Purkinje cell loss. Injection of PCD IgG together with complement or lipopolysaccharide-activated human macrophages or rat mononuclear cells into rat ventricles did not cause Purkinje cell loss. We also studied passive transfer of the PCD patient's lymphocytes to mice with severe combined immunodeficiency (SCID). We constructed a recombinant Yo fusion protein that has the leucine-zipper protein (Yo protein), the common epitope for anti-Yo antibody for immunizing mice, and that resulted in production of significant amounts of anti-Yo antibody. Spleen cells from these Yo protein immunized mice were injected intravenously or intracerebrally into naive mice that subsequently showed no neurological symptoms or loss of Purkinje cells. We conclude that the anti-Yo antibody, either in combination with or without complement or activated mononuclear cells, cannot be the sole cause of Purkinje cell loss.
Adenocarcinoma↗
HTLV-I-like sequence in MS.
Explore the source record for details and available documents.
Blood Donors↗
Long term course of change in anti-Yo antibody content in paraneoplastic cerebellar degeneration.
Explore the source record for details and available documents.
Aged↗
[Long-term results of Bentall and modified Bentall procedure in aortic root replacement].
Between 1976 and 1994, sixteen patients who had annulo-aortic ectasia required aortic root replacements. Ten patients had annulo-aortic ectasia and 6 patients had aortic dissections. The operative techniques included Bentall procedure in 6, Cabrol procedure in 3 and Carrel patch procedure in 7. No hospital death was noted, although there were three major late complications and two of them died. First patient having Bentall procedure died from acute myocardial infarction because of the compressed left coronary artery by the wrapping aneurysmal wall. Second patient having Bentall procedure had enlargement of residual false lumen. Third patient having Cabrol procedure developed false aneurysm at the ostial anastomosis and died of cerebral haemorrhage. In contrast, no late complication has been noted in patients having Carrel patch procedure. Although further long-term follow-up is required, our experience suggests that Carrel patch procedure has less late complication.
Adult↗
[A case of aortic bicuspid valvular endocarditis with congenital left ventricular diverticulum].
A 29-year-old man had a prolonged fever and painful Osler's nodes on his right foot. The aortic valve was bicuspid with vegetation mass and the left ventricular diverticulum was additionally present connecting with the left ventricular outflow tract. An operation was performed after intravenous administration of antibiotics for 3 weeks. The aortic bicuspid valve and the vegetation were removed and replaced by an artificial valve (SJM-HP 19 mm). The left ventricular diverticulum was resected. The echocardiographic findings correlated well with the intraoperative observation.
Adult↗
Passive transfer and active immunization with the recombinant leucine-zipper (Yo) protein as an attempt to establish an animal model of paraneoplastic cerebellar degeneration.
Passive transfer of paraneoplastic cerebellar degeneration (PCD) IgG to rodents as well as active immunization with recombinant Yo fusion protein were tried in order to examine the roles of anti-Purkinje cell antibody (anti-Yo antibody) present in the sera and cerebrospinal fluid of patients with PCD in Purkinje cell loss, the hall mark of PCD pathology. On a single injection of PCD IgG to mouse brain, IgG was taken into Purkinje cells and remained there for more than 36 h without Purkinje cell loss. Injection of PCD IgG together with complement or lipopolysaccharide-activated human macrophages or rat mononuclear cells to rats ventricles did not cause Purkinje cell loss. We made a recombinant Yo fusion protein that has the leucine-zipper protein (Yo protein), the common epitope for anti-Yo antibody. Mice immunized with this Yo protein produced high titer antibody against it for more than 3 months, during which time neither neurological symptoms nor Purkinje cell loss occurred. The anti-Yo antibody, with or without complement or activated mononuclear cells, therefore could not be the sole cause of Purkinje cell loss.
Aged↗
Processing of beta/A4 amyloid precursor protein is altered in the hippocampus of reserpinized rat brain.
Immunoreactivities of beta/A4 amyloid precursor protein (APP) and soluble derivative of APP (APPs) were determined in the hippocampus and the striatum of reserpinized rat brains. Significant decrease of APPs immunoreactivity was observed in the cytosolic fraction of hippocampus, but not of striatum, whereas APP immunoreactivity was found to be increased in the membrane fraction of hippocampus. These findings suggest that processing of APP in hippocampus may be regulated through the monoaminergic signal transduction system.
Amyloid beta-Protein Precursor↗
Structures of the human and mouse growth inhibitory factor-encoding genes.
Growth inhibitory factor (GIF) is down-regulated in Alzheimer's disease (AD) brains. To analyze the mechanism of this down-regulation, we isolated the human and mouse GIF genes. These genes consist of three exons, are approx. 1-kb long and show strikingly high homology to metallothionein-encoding genes. A comparison of the human and mouse GIF showed several conserved sequences, including the putative AP-2, SP-1, TATA-binding protein and metal-responsive elements (MRE). A sequence similar to the human gfa common sequence (hgcs), recently identified as the sequence for an astrocyte-specific transcriptional factor, is present in the promoter of these GIF. Characterization of factors associated with the putative regulatory elements in the promoter of GIF should help in determining the mechanism of the down-regulation of GIF in AD brains.
Alzheimer Disease↗
Cerebellar nitric oxide synthase, cGMP and motor function in two lines of cerebellar mutant mice, Staggerer and Wriggle Mouse Sagami.
We investigated the hypothesis that nitric oxide (NO) is involved in the cerebellar motor function, by measuring nitric oxide synthase (NOS) activities and cGMP in the cerebellum using two lines of mutant mice having motor dysfunction, Staggerer (SG) and Wriggle Mouse Sagami (WMS). In SG, the NOS activity per cerebellum was reduced to 5.8% of that of the controls, while no significant change was observed in WMS. The cerebellar cGMP in SG was reduced to 3.3% of that of the controls and to 43% in WMS. In contrast with these neurochemical markers of NO, the locomotor dysfunction and the number of falls were greater in WMS than in SG. The reductions of the neurochemical markers of NO are consistent with the results of the previous neuropathological studies in SG and WMS whereas the cerebellar motor dysfunction was independent of these neurochemical and neuropathological changes.
Amino Acid Oxidoreductases↗
Protein kinase C subspecies in hippocampus and striatum of reserpinized rat brain.
Protein kinase C (PKC) (alpha) and (beta) immunoreactivities were determined in the cytosolic and particulate fractions of the hippocampus and striatum after single and repetitive, intraperitoneal administration of reserpine. Significant decrease of PKC(alpha) immunoreactivities was observed in the particulate fractions of both striatum and hippocampus. Compared with the alteration of PKC(alpha), the decreased immunoreactivity of PKC(beta) was only observed in the particulate fraction of the hippocampus, associated with the increase in the cytosolic fraction. These findings suggest a novel mechanism regulating the distribution of PKC. The topographical selectivity in the present study may indicate the importance of the alteration of PKC(beta) in the pathophysiological mechanism in Alzheimer's disease.
Animals↗