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Biomedical subjects

E Uyama

Publications and source records attributed to E Uyama.

At least 55 records · Page 3Linked to original sources
PubMed1997

High incidence of thrombosis in Fabry's disease.

Although a high incidence of thrombotic accidents in Fabry's disease has been postulated, few investigations have been performed. To clarify the incidence of thrombosis in Fabry's disease, we undertook a systematic study on thrombosis in patients with Fabry's disease including hemizygous males and heterozygous females. Sixty patients with Fabry's disease (45 hemizygotes and 15 heterozygotes) from 36 Japanese families were subjected to clinical, biochemical and genetic investigations. We found that seven patients with Fabry's disease (4 hemizygous males and 3 heterozygous females) had experienced thrombotic accidents. Six of these thrombotic patients developed brain infarctions, including one man who had the complication of recurrent thrombophlebitis. The remaining woman showed central retinal artery occlusion and thrombophlebitis. We demonstrated a high incidence of thrombosis in Fabry's disease. Thrombotic accidents occurred not only in hemizygous males but also in heterozygous females. The complication of thrombotic accidents should be taken into account in patients with Fabry's disease.

Adult↗
PubMed1996

Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene.

The genetic differences between two types of dominant inherited myoclonus epilepsy, dentatorubral pallidoluysian atrophy (DRPLA) and benign adult familial myoclonus epilepsy (BAFME), have been reported. A gene with a CAG repeat expansion responsible for DRPLA has been isolated. We have examined CAG repeat expansion in the DRPLA gene in five BAFME families, and the abnormal CAG expansion was not observed in the affected subjects. Linkage analysis using DNA polymorphisms in the DRPLA gene and the genes for gamma-aminobutyric acid (GABA) receptor subunits, GABAR beta 1, GABAR beta 3, and GABAR alpha 6, showed that these genes were not responsible for BAFME.

Atrophy↗
PubMed1996

Oculopharyngeal muscular dystrophy in two unrelated Japanese families.

The occurrence of oculopharyngeal muscular dystrophy (OPMD) in Orientals is uncertain. We identified two unrelated Japanese families, including 30 affected individuals (14 men, 16 women, mean age 58 years) of OPMD through four generations, with complete penetrance. Their major clinical manifestations were late-onset bilateral ptosis and dysphagia. Histologic studies of slightly affected muscles reveal mild myogenic changes, occasional rimmed vacuoles, and small angulated fibers. By contrast, the severely involved cricopharyngeal muscle showed marked loss of fibers and massive proliferation of connective tissue. Ultrastructural studies of four different biopsied muscles disclosed subsarcolemmal intranuclear tubulofilamentous inclusions, identical to those of non-Japanese OPMD patients.

Aged↗
PubMed1996

Distribution of dystrophin and dystrophin-associated protein 43DAG (beta-dystroglycan) in the central nervous system of normal controls and patients with Duchenne muscular dystrophy.

In skeletal muscles of patients with Duchenne muscular dystrophy (DMD), the absence of dystrophin was thought to lead to the large reduction in all of the dystrophin-associated proteins (DAPs). Of the seven types of DAPs identified in skeletal muscle, only the 43-kDa glycoprotein (beta-dystroglycan) has recently been found in the monkey brain. To clarify the distribution and characterization of dystrophin and beta-dystroglycan in the brain of humans, we carried out immunostaining and immunoblotting studies on tissues from three DMD patients with intellectual disturbances (ages 17,22, and 26 years) and in five controls (age range, 42-74 years). An antidystrophin antibody revealed dystrophin to be localized in neuronal cells and in the vascular wall in control brains, but it was absent from these tissues in DMD patients. In contrast, beta-dystroglycan was distributed throughout neuronal cells and in the vascular wall of control brains, and was well preserved in the brain of patients with DMD.

Adolescent↗
PubMed1995

Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome.

Gilbert's and Crigler-Najjar syndromes are characterised by unconjugated hyperbilirubinaemia due to complete and partial absence of bilirubin UDP-glucuronosyltransferase (UGT). Nucleotide sequences of the genes for bilirubin UGT were analysed in six patients with Gilbert's syndrome. All patients had a missense mutation caused by a single nucleotide substitution and the mutations were heterozygous. In addition, relatives of patients with Crigler-Najjar syndrome types I and II, and of those with Gilbert's syndrome were analysed. All ten relatives with mild hyperbilirubinaemia were heterozygotes with respect to each defective allele. These results suggest that Gilbert's syndrome is inherited as a dominant trait.

Adolescent↗
PubMed1995

Polymerase chain reaction fiber analysis and somatic mosaicism in autopsied tissue from a man with Duchenne muscular dystrophy.

Single muscle fibers, obtained at autopsy from a 22-year-old man with Duchenne muscular dystrophy were examined immunocytochemically and also using polymerase chain reaction (PCR). Dystrophin-positive cells were widespread in skeletal, cardiac, smooth muscle, and in brain cells. PCR and Southern blot analyses of DNA from peripheral blood lymphocytes revealed a deletion of exon 45 in the dystrophin gene. With PCR of single fibers, three bands corresponding to exons 44, 45, and 47 were present in the normal control muscle fibers and dystrophin-positive fibers from the patient, while only two bands, exons 44 and 47, were observed in dystrophin-negative fibers. Therefore, in this patient, the genotype of dystrophin-positive fibers differed from that of the dystrophin-negative fibers, possibly because of a somatic mosaicism for deletion in the dystrophin gene. A mutation of the dystrophin gene may have occurred in one cell at an early stage of ontogenesis.

Adult↗
PubMed1995

A histochemical and electron microscopic study of skeletal and cardiac muscle from a Fabry disease patient and carrier.

Histochemical and electron microscopic studies were performed in an attempt to clarify the muscle pathology in an 18-year-old man with Fabry disease, showing proximal limb muscle atrophy, and his 52-year-old mother, who is a Fabry carrier with hypertrophic cardiomyopathy. Despite the relatively mild myopathic changes revealed by histochemistry, electron microscopy demonstrated the widespread accumulation of abundant lamellated bodies in myofibers, associated with increased glycogen granules and autophagic vacuoles. The cardiac muscle of the proband's mother revealed a mosaic pattern of normal-appearing and hypertrophic myofibers containing a number of ring-like, lamellated bodies. Although further studies are necessary to support our findings, skeletal muscle is apparently involved in patients with Fabry disease, and a mosaic pattern of cardiac muscle involvement possibly reflecting Lyonization, may be one of the characteristic findings of a Fabry disease carrier.

Adolescent↗
PubMed1995

PCR and immunocytochemical analyses of dystrophin-positive fibers in Duchenne muscular dystrophy.

Immunocytochemical studies on serial sections of muscles from 19 patients with Duchenne muscular dystrophy (DMD) were done using seven kinds of antidystrophin antibodies that span dystrophin. Fifteen of the patients were screened for intragenic deletions by the multiplex polymerase chain reaction (PCR); 7 were also tested, using Southern blots. Dystrophin-positive fibers were detected in 10 of the 19 patients, occurring with a frequency of 0.06-75.7%, as clusters or as single fibers in certain muscle bundles. In 7 of the 10 patients, the fibers stained with all antibodies from the N- through the C-terminal region. However, in one patient, there were dystrophin-positive fibers that stained with an N-terminal antibody (DYS-3) and an antibody specific to the rod region (DYS-1), but not with C-terminal antibody (DYS-2). In 2 patients, there were two kinds of fibers: one that did not stain with DYS-1 or DYS-2 and another that stained with all the antibodies used. Single-fiber PCR analysis in 2 patients showed that the genotype of dystrophin-positive fibers differed from that of dystrophin-negative fibers. These results suggest that the majority of dystrophin-positive fibers are of the same clonal origin, but that some are derived from plural reverse mutations, each with a different translation-frame-repairing modality and somatic mosaicism.

Adolescent↗
PubMed1995

Dentatorubral-pallidoluysian atrophy (DRPLA): clinical, genetic, and neuroradiologic studies in a family.

The clinical, genetic, and neuroradiologic characteristics of dentatorubral-pallidoluysian atrophy (DRPLA) are delineated in six patients from three generations of a Japanese family. The clinical characteristics of the disease varied, the age at onset depending on patients with juvenile-onset were characterized by myoclonus, epilepsy, and mental retardation whereas cerebellar ataxia, choreoathetosis, and dementia were typical of adult- and senile-onset patients. All affected individuals showed one expanded allele with the repeat number of CAG at the DRPLA locus, ranging from 58 to 82, and a normal allele, ranging from 10 to 21. The most severely affected patient, a case of maternal transmission and with the largest allele, became bedridden in a vegetative state by age 12. On the CT and MRI, varying degrees of brain atrophy were present in all patients. T2-weighted MRI in patients with senile-onset showed symmetric high-signal lesions in the cerebral white matter, globus pallidus, thalamus, midbrain, and pons. However, MRI in younger patients revealed no such lesions and CT failed to demonstrate lesions in the globus pallidus and brain stem. Thus, intrafamilial heterogeneity of DRPLA was also evident on MRI. High-signal lesions involving both, subcortical white matter and thalamus may be characteristics of senile-onset patients and may correlate with their dementia.

Adult↗
PubMed1995

Headache associated with aseptic meningeal reaction as clinical onset of Fabry's disease.

This report concerns an 18-year-old boy who is hemizygote for Fabry's disease. Varying degrees of nonpulsating headache crises, lasting from a few hours to several days, began when he was 16 years of age. Painful crises in the extremities, characteristic of Fabry's disease, were not present. Although only occasional, he had several episodes of throbbing headache with vomiting without aura. The meningeal signs were equivocal, although the patient had noninfectious pleocytosis, intracranial hypertension, delayed radioisotope clearance on cisternography, and multiple old cerebral infarcts. Nonsteroidal anti-inflammatory drugs, antidepressants, carbamazepine, and glycerol were of no benefit for his headache. Although its mode of action remains obscure, prednisolone was effective for treating the headache and the aseptic meningeal reaction.

Adolescent↗
PubMed1995

Involvement of the central nervous system in rheumatoid arthritis: its clinical manifestations and analysis by magnetic resonance imaging.

A rheumatoid arthritis (RA) patient showed high signal intensity in the subcortical region of the frontal and occipital lobes on T2-weighted magnetic resonance imaging (MRI). Histopathological examination in the autopsy specimen revealed severe systemic vasculitis. Additional radiological and laboratory studies revealed that transient cerebral ischemia induced by vasculitis occurred in this patient.

Arthritis, Rheumatoid↗
PubMed1994

Decrease in Cu/Zn- and Mn-superoxide dismutase activities in brain and spinal cord of patients with amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a degenerative disorder of motor neurons in the central nervous system (CNS). Mutation of the Cu/Zn-superoxide dismutase (SOD) gene on chromosome 21 has been found in some families with autosomal dominant familial ALS (FALS). We sought to determine whether there may be differences in the distribution and activity of SOD in the CNS of patients with sporadic ALS, and of control patients without neurological disorders. The frontal cortex, cerebellum, and spinal cord were obtained at autopsy on 5 patients with ALS and from 10 controls. Immunohistochemically, in the controls, the cytosols of the large pyramidal neurons of the cerebral cortex, anterior and posterior horn cells, and neurons of the nucleus thoracicus of spinal cord were stained homogeneously with anti-human Cu/Zn-SOD antibody, and in a granular manner with anti-human Mn-SOD antibody. Pia mater and epithelial cells of choroid plexus also stained well. Conversely, in the CNS of the ALS patients, most neurons were stained faintly, or not at all with both anti-Cu/Zn- and Mn-SOD antibodies, whereas the pia mater and the epithelial cells of choroid plexus stained intensely. There was no difference in total SOD activity in the entire CNS between ALS patients and controls, as determined by enzyme assay. Results suggest that, in cases of sporadic ALS, the activities of Cu/Zn- and Mn-SOD are decreased and superoxide produced within the neurons accumulates because of an insufficient elimination, leading to the development or acceleration of cell damage, ultimately producing neuronal degeneration and necrosis.

Adolescent↗