A case of familial amyloid polyneuropathy treated with partial liver transplantation using a graft from a living related donor.
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Adolescent↗
Biomedical subjects
N Yanagisawa
Publications and source records attributed to N Yanagisawa.
Sarin poisoning in Matsumoto, Japan.
A presumed terrorist attack with sarin occurred in a residential area of the city of Matsumoto, Japan, on June 27, 1994. About 600 residents and rescue staff were poisoned; 58 were admitted to hospitals, and 7 died. We examined clinical and laboratory findings of 264 people who sought treatment and the results of health examinations on 155 residents done 3 weeks after the poisoning. Findings for severely poisoned people were decreases in serum cholinesterase, acetylcholinesterase in erythrocytes, serum triglyceride, serum potassium and chloride; and increases in serum creatine kinase, leucocytes, and ketones in urine. Slight fever and epileptiform abnormalities on electroencephalogram were present for up to 30 days. Examination revealed no persisting abnormal physical findings in any individual. Acetylcholinesterase returned to normal within 3 months in all people examined. Although subclinical miosis and neuropathy were present 30 days after exposure, almost all symptoms of sarin exposure disappeared rapidly and left no sequelae in most people.
Acute Disease↗
Secretory cleavage of beta-amyloid precursor protein in the cerebral white matter produces amyloidogenic carboxyl-terminal fragments.
To elucidate the metabolic process generating amyloid-beta protein (A beta) from beta-amyloid precursor protein (APP) in human brain, we partially purified secretory forms and carboxyl-terminal fragments (CTFs) of APP from the white matter of a Down's syndrome brain. We obtained secretory forms of APP which lack the entire A beta sequence and CTFs which contain the full-length A beta from the cerebral white matter. Some A beta-lacking secretory APP isoforms in the white matter were derived from APP695. These results suggest that amyloidogenic CTFs can be produced by secretory cleavage of APP which is anterogradely transported through the axon in human brain.
Amyloid beta-Peptides↗
Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family.
A hereditary ceruloplasmin deficiency associated with severe iron deposition in visceral organ and brain tissues found on histopathological examination at autopsy is discussed. Three siblings of consanguineous Japanese parents were studied. Their clinical symptoms were progressive dementia, extrapyramidal disorders, cerebellar ataxia, and diabetes mellitus, all of which appeared when they were between 30 and 50 years old. All had serum ceruloplasmin deficiencies and increased serum ferritin concentrations. The dentate nucleus, thalamus, putamen, caudate nucleus, and liver of each one showed low signal intensities on T1- and T2-weighted magnetic resonance images. Examination of the central nervous system revealed severe destruction of the basal ganglia and dentate nucleus, with considerable iron deposition in neuronal and glial cells, whereas the cerebral cortex showed mild iron deposition in glial cells without neuronal involvement. An electron microscopic study with energy-dispersive x-ray analysis showed iron depositions in the hepatocytes, of both the neural and glial cells of the brain. We consider this a new disease entity because of the primary ceruloplasmin deficiency.
Adult↗
Multiple mitochondrial DNA deletions in a patient with mitochondrial myopathy and cardiomyopathy but no ophthalmoplegia.
Deletions of muscle mitochondrial DNA are known in mitochondrial myopathy patients who have chronic progressive external ophthalmoplegia (CPEO). A 41-year-old patient with no apparent family history of this condition suffers from hypertrophic cardiomyopathy, slight muscle atrophy, and weakness of the extremities, but not from CPEO. A muscle biopsy showed the presence of ragged-red fibers, and Southern blot analysis disclosed multiple deletions of muscle mitochondrial DNA. This combination of clinical features in our patient is atypical in mitochondrial myopathy with demonstrable deleted muscle mitochondrial DNA. Pleomorphic clinical expression is suggested.
Adult↗
Progressive decrease in heteronymous monosynaptic Ia facilitation with human ageing.
To evaluate functional change in the spinal reflex pathway with ageing, we studied heteronymous Ia facilitation from the quadriceps to soleus muscle in 30 normal volunteers (aged 24-68 years). The size of the test H-reflex of the soleus muscle was adjusted to 25% that of the maximal M-response. The conditioning stimulus was adjusted to 1.5-fold the motor threshold to stimulate all the Ia fibres in the femoral nerve. Facilitation was quantified as the slope of the very early part of facilitation, within 0.8 ms of onset. This procedure enabled us to evaluate the extent of monosynaptic Ia facilitation without contamination by other effects. The extent of facilitation decreased linearly with age. This decrease in facilitation could reflect a decrease in the number of Ia fibres and in their conduction velocities, and an increase in presynaptic inhibition on Ia terminals. The increase in presynaptic inhibition may be an adaptive phenomenon in the ageing of the neuromuscular system or, alternatively, a deteriorating process with decreasing flexible supraspinal modulation.
Adult↗
Thrombomodulin in the sera of patients with multiple sclerosis and human lymphotropic virus type-1-associated myelopathy.
Damage to the blood-brain barrier, which mainly consists of cerebral endothelial cells, has been demonstrated in multiple sclerosis (MS) clinically and histochemically. To investigate the endothelial cell damage, we evaluated the presence of soluble thrombomodulin in the sera of patients with MS and human T lymphotropic virus type-1-associated myelopathy (HAM) using an enzyme-linked immunosorbent assay. Serum thrombomodulin levels were significantly increased in patients with acute relapsing MS during an exacerbation and chronic progressive MS as compared with those of controls (P < 0.001, respectively). Patients with HAM also had higher serum levels of thrombomodulin than did controls (P < 0.001). There was significant difference between patients with HAM and seropositive non-HAM carriers (P < 0.01). These results suggest that the detection of serum thrombomodulin could be used as a marker of endothelial cell damage in inflammatory diseases such as MS and HAM.
Adult↗
Increased levels of soluble vascular cell adhesion molecule-1 (VCAM-1) in the cerebrospinal fluid and sera of patients with multiple sclerosis and human T lymphotropic virus type-1-associated myelopathy.
We evaluated the relationship between the soluble form of vascular cell adhesion molecule-1 (sVCAM-1) and disease activity in patients with multiple sclerosis (MS) or with human T lymphotropic virus type 1-associated myelopathy (HAM), and measured levels of sVCAM-1 in their cerebrospinal fluid (CSF) and sera. Serum and CSF levels of sVCAM-1 were significantly increased in patients with acute relapsing MS during an exacerbation (P < 0.01 and P < 0.001), as well as in chronic progressive MS (P < 0.05 and P < 0.001), compared with healthy individuals and patients with other neurological diseases, respectively. Patients with acute relapsing MS during an exacerbation also exhibited significantly higher serum and CSF levels of sVCAM-1 vs. patients with acute relapsing MS in remission (P < 0.001). Significantly higher serum levels of sVCAM-1 were observed in patients with HAM vs. either healthy individuals (P < 0.01) or non-HAM carriers (P < 0.01). These results suggest that the determination of sVCAM-1 in the sera and CSF may be useful in monitoring the activity of MS and HAM.
Adult↗
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans.
We identified a mutation in the ceruloplasmin (Cp) gene in a Japanese family with aceruloplasminemia, some of whose members showed extrapyramidal disorders, cerebellar ataxia, and diabetes mellitus. A post-mortem study of the proband revealed excessive iron deposition mainly in the brain, liver and pancreas. The G to A transition at the splice acceptor site introduces a premature termination codon at the amino acid position 991 by defective splicing, thereby truncating the carboxyl terminus of Cp in affected individuals. We conclude that the mutation in the Cp gene is associated with systemic hemosiderosis in humans.
Alternative Splicing↗
Histopathologic and MRI findings in hypokalemic myopathy induced by glycyrrhizin.
Histopathologic studies and magnetic resonance images of the leg muscles were conducted in two patients with glycyrrhizin-induced hypokalemic myopathy (GHM). Muscle biopsy showed myopathic changes and vacuolated fibers with light microscopy, and dilatation of the sarcoplasmic reticulum, various types of vacuoles and myofibrillar degeneration with electron microscopy. High signal intensities in T2-weighted images obtained during severe muscle weakness were widely distributed in the leg muscles, especially the pretibial and soleus muscles. These high signal intensities disappeared after full recovery of muscle weakness. We suggest that high signal intensity in T2-weighted images can be seen and correspond to histopathologic changes in the muscles of GHM patients.
Adrenal Cortex Hormones↗
Endothelial cell damage in sarcoidosis and neurosarcoidosis: autoantibodies to endothelial cells.
Damage to the vascular system, of which endothelial cells are the main constituent, may occur in sarcoidosis. Evidence of blood-brain barrier (BBB) disruption is shown in sarcoidosis with central nervous system (CNS) involvement by means of magnetic resonance imaging or computed tomography. We investigated the presence of antiendothelial cell antibodies by culture of endothelial cells derived from human umbilical cord vein and from human brain using an enzyme-linked immunosorbent assay, and the presence of circulating immune complexes using a Raji cell assay, in the sera of patients with sarcoidosis. The patients with sarcoidosis displayed significantly high levels of immunoglobulin G (IgG) binding to endothelial cells after blocking Fc receptor compared to controls (p < 0.01). The sera of neurosarcoid patients with CNS involvement still showed significantly increased levels of IgG binding to brain endothelial cells after blocking Fc receptor compared to controls and those of pulmonary sarcoidosis (p < 0.001 and p < 0.01 respectively). These results suggest that the presence of autoantibodies to endothelial cells may be involved in endothelial cell damage, including BBB disruption.
Adult↗
Short-latency somatosensory evoked potentials following median nerve stimulation in four patients with medial medullary infarction.
Somatosensory evoked potentials (SEPs) to median nerve stimulation were studied with noncephalic reference in 4 patients with unilateral or bilateral infarctions in the upper medulla to decide the contribution of scalp-recorded P14, N18 in detecting medial medullary lesions. The P9-P14 interpeak latencies did not change, while the P14-N18 and P14-N20 intervals tended to be slightly prolonged on the severely affected side. The amplitude ratios of P14 and N20, evaluated by dividing the amplitude on the severely affected side by that on the unaffected or less severely affected side, were significantly smaller than that of the cervical N13/P13 component. The amplitude ratios of N18 and N13/P13 did not differ significantly, and a preserved N18 with a depressed P14 in 2 cases indicates separate generators. A characteristic change of P14 in medial medullary infarction is that its amplitude is reduced without delay. Reduction of N18 indicates the presence of lesions in the lower brainstem; however, it is not necessarily associated with medial medullary lesions.
Aged↗
Adhesion of lymphocytes to endothelial cells in experimental allergic encephalomyelitis before and after treatment with endotoxin lipopolysaccharide.
We investigated the in vitro adhesion of 51Cr-labeled lymphocytes to cultured brain endothelial cells and the in vivo expression of intercellular adhesion molecule-1 (ICAM-1) on cerebral endothelial cells in a rat model of experimental allergic encephalomyelitis (EAE) before and after treatment with lipopolysaccharide (LPS). Adhesion of lymphocytes to cerebral endothelial cells was significantly increased in EAE compared with controls (p < 0.01), and was significantly correlated with the percentage of major histocompatibility complex class II antigen-positive cells in lymph node cells (p < 0.001). LPS enhanced ICAM-1 expression on endothelial cells and lymphocyte adhesion to those cells, and caused a significant increase in the in vivo expression of ICAM-1 compared with controls (p < 0.001). Lymphocyte adhesion to endothelial cells was significantly blocked by monoclonal antibodies against ICAM-1, lymphocyte function-associated antigen-1, or very late activation antigen-4. Our findings suggest that lymphocyte adhesion to brain endothelial cells may contribute to lymphocyte migration across the blood-brain barrier in EAE and that LPS may cause progression of EAE lesions.
Animals↗
Soluble E-selectin in the serum and cerebrospinal fluid of patients with multiple sclerosis and human T-lymphotropic virus type 1-associated myelopathy.
To evaluate the activation of endothelial cells of the brain and the spinal cord, we investigated the presence of soluble endothelial leukocyte adhesion molecule-1 (sE-selectin) in the serum and cerebrospinal fluid (CSF) of patients with multiple sclerosis (MS) and those with human T-lymphotropic virus type 1-associated myelopathy (HAM). There were significantly higher levels of sE-selectin found in the serum of patients with relapsing-remitting MS during an exacerbation (p < 0.001) and those with chronic progressive MS (p < 0.01) compared with controls. Serum levels of sE-selectin in patients with HAM did not differ significantly from serum levels in controls or non-HAM carriers. We also found sE-selectin in the CSF of eight patients during an exacerbation of relapsing-remitting MS. These results suggest that an active immune reaction involving E-selectin production that is indicative of endothelial cell damage occurs in the CNS of patients during an exacerbation of relapsing-remitting MS. Thus, sE-selectin may be useful in monitoring disease activity in patients with relapsing-remitting MS.
Adult↗
Cytoplasmic body myopathy with hypertrophic cardiomyopathy.
A patient with cytoplasmic body myopathy presented muscle hypotonia from birth and developed progressive muscular atrophy and weakness, scoliosis, contracture of joints and cardiorespiratory failure. At the age of 17, he died of heart failure. Post mortem examination revealed severe hypertrophy of cardiac walls and generalized muscular atrophy. Microscopic examination showed many cytoplasmic bodies in skeletal muscle fibers and myofiber disarray in myocardium. No cases of cytoplasmic body myopathy with hypertrophic cardiomyopathy have been reported previously. It is suggested that the Z-line component is related to the formation of the cytoplasmic body in skeletal muscle and disarray in the cardiac muscle.
Adolescent↗
[Immunohistochemical analysis of adhesion molecules in directional coronary atherectomy specimens].
Chronic inflammatory cells are key components in the progression of atherosclerotic plaques and restenosis after coronary angioplasty. Adhesion molecules are fundamental in inflammatory processes. Therefore, the distributions of intercellular adhesion molecule-1 (ICAM-1) and vascular cell adhesion molecule (VCAM) were investigated in directional coronary atherectomy specimens obtained from 14 patients, in 6 with acute coronary syndromes (myocardial infarction and unstable angina within 1 month), 6 with old myocardial infarction and 2 with stable effort angina. There were eight primary lesions and six restenotic lesions. Atherectomy tissue fragments were snap frozen and cut into 4 microns thick cryostat sections for immunohistochemical staining by avidin-biotin complex immunoperoxidase techniques using adhesion molecule specific monoclonal antibodies BBIG-I1 (ICAM-1) and BBIG-V1 (VCAM). The cells of lesions were characterized in sequential sections by macrophage marker KP1 (CD68), endothelial marker JC/70A (CD31), and smooth muscle cell marker 1A4 (alpha-smooth muscle actin). Four restenotic lesions that had undergone a prior balloon angioplasty within a few months consisted of intimal proliferation and the other lesions were atherosclerotic plaque. Macrophage-rich areas were seen in the lesions from acute coronary syndromes and/or early restenotic lesions. Expression of ICAM-1 or VCAM was strongly associated with macrophage-rich areas, but VCAM staining was weaker than ICAM-1 except in one restenotic lesion. Macrophages that express ICAM-1 and/or VCAM may be important in the unstable plaques and restenotic lesions related to disease activity of ischemic heart disease.
Aged↗
[A case of multiple myeloma complicated by acute transverse myelopathy due to epidural abscess].
A 51-year-old man developed fever and lumbago followed by rapidly progressive bilateral sensory disturbance below the 9th thoracic spinal cord level, flaccid paraplegia, urinary obstruction and constipation. Based on radiological examinations and laboratory findings, a diagnosis of transverse myelopathy due to epidural abscess was made. A series of MRI studies revealed multiple abscess formation in the paravertebral muscles. Hypergammaglobulinemia with M protein was observed continuously, and further examination revealed multiple myeloma in the early stage. Since it has been reported that several different immunosuppressive mechanisms precede the development of bone lesions in multiple myeloma, these mechanisms may have played an important role in the rapid progression of the abscess in this patient. Multiple myeloma is not only important as one of the disorders underlying epidural abscess of unknown etiology, but important in predisposing to severe infection as a result of the immunosuppressive mechanisms present starting in the early stage of the disease.
Abscess↗
[Comparative study of the efficacy of plasma exchange, immunoadsorption plasmapheresis and corticosteroid administration in the treatment of Guillain-Barré syndrome].
We have retrospectively compared the efficacy of plasma exchange (PE), immunoadsorption plasmapheresis therapy (IAPP), corticosteroid administration and no treatment in the treatment of the Guillain-Barré Syndrome (GBS). Forty-two patients with GBS and clinical functional grades of more than Hughes 3 were admitted to Shinshu University Hospital, Nagano Red-cross Hospital and Saku General Hospital between 1978 and 1994. These patients were treated with either PE, IAPP, corticosteroids or no therapy. Eight were treated with PE, eleven with IAPP, twelve with corticosteroids and eleven were untreated. None of the patients were received combined therapy. The four groups of patients were compared on the following points; duration of the deteliocation in symptoms, duration of the worst symptoms, period of the ability to walk after onset, minimum motor nerve conduction velocity (MCV) over the course, maximum cerebrospinal fluid (CSF) protein concentration over the course, and CSF protein concentration improvement 6 weeks after onset as compared with 2 weeks after onset. The results revealed that the duration of the worst symptoms was shortened more in the IAPP-treated and PE-treated groups than in the other groups. Decreases in CSF protein concentration were more significant in the IAPP-treated and PE-treated groups than in the other groups. There were no significant differences in the other parameters among the groups. Furthermore the clinical symptoms of GBS improved more rapidly with PE and IAPP than with supportive care alone or corticosteroid therapy, especially in the early phase of the disease. IAPP and PE are equally effective.(ABSTRACT TRUNCATED AT 250 WORDS)
Adolescent↗