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Biomedical subjects

R Mizuno

Publications and source records attributed to R Mizuno.

At least 73 records · Page 4Linked to original sources

Temporal expression of the transthyretin gene in the developing rat eye.

Transthyretin (TTR) is a 55-kilodalton tetrameric protein that plays an important role in the plasma transport of thyroxine and retinol. Plasma TTR is synthesized in the liver, but major sites of synthesis also have been described in the choroid plexus (CP) epithelium, the visceral yolk sac, and the eye. Recently, the retinal pigment epithelium (RPE) was identified as the specific site of TTR synthesis in the rat eye, and it was suggested that this established a functional homology between the RPE and the CP epithelium. In this study, the temporal pattern of TTR mRNA expression was investigated in the rat eye and brain during development (embryonic day 10 [e10]-postnatal day 7 [P7]) by in situ hybridization and quantitative densitometry. The TTR mRNA was present in abundance in the primordial CP before organogenesis (e10-12), but in the eye, TTR mRNA first was detected at considerably lower levels after organogenesis (e16) and only in a subset of RPE cells in the equatorial region. The relative abundance of TTR mRNA in RPE rose gradually until e21, but on the first day of life a surge was seen, followed by stabilization at adult levels by P7. These findings suggest that the requirement for TTR in CP and RPE, and possibly its function, may differ during development. The postnatal surge in RPE TTR message levels raises the possibility that transcription of the TTR gene in the newborn animal may be responsive to newly encountered environmental stimuli in the perinatal period, such as incident light.

Animals↗

Effect of long-term L-threo-3,4-dihydroxyphenylserine administration on alpha 2-adrenergic receptors in platelet membranes in neurologic disorders.

The effects of L-threo-3,4-dihydroxyphenylserine (L-threo-DOPS), an unnatural norepinephrine precursor, on alpha 2-adrenergic receptors in platelet membranes were investigated in a patient with familial amyloidotic polyneuropathy, two patients with multiple system atrophy, and two patients with Parkinson's disease. Each patient was treated for at least six months. While L-threo-DOPS alone, or in combination with decarboxylase inhibitor benserazide hydrochloride, produced sustained increase in plasma norepinephrine and clinical improvement, it did not induce a change in the number of alpha 2-adrenergic receptors in platelet membranes.

Aged↗

A novel antineuronal antibody in serum and CSF of a patient with motor neuron disease.

A patient with motor neuron disease and tonic pupil who had an antinuclear antibody (Ab) in the serum and oligoclonal pattern in IgG in the CSF is described. Sera and CSF from this patient and controls (37 sera and 30 CSF) were screened for an antineuronal Ab using immunoblotting. Only the serum and CSF from this patient contained an Ab to a 70-kD protein in the human spinal cord but not in the human muscle or cerebellar cortex. This patient's serum immunohistochemically stained human and Japanese monkey anterior horn cells but not Japanese monkey dorsal root ganglion.

Animals↗

Structure of the gene encoding the muscle-specific subunit of human phosphoglycerate mutase.

We report the isolation and analysis of genomic clones containing the entire gene encoding the muscle-specific subunit of human phosphoglycerate mutase. The gene spans 2.83 kilobase pairs and has a three-exon/two-intron structure that is similar to the organization of the human 2,3-bisphosphoglycerate mutase gene (Joulin, V., Garel, M.-C., LeBoulch, P., Valentin, C., Rosa, R., Rosa, J., and Cohen-Solal, M. (1988) J. Biol. Chem. 263, 15785-15790), in that the second introns of both genes are localized precisely at the same position. A canonical TATA box and an inverted CCAAT box are present immediately upstream of this gene. Comparison with other muscle-specific enzyme genes reveals a conserved 9-base pair element (GGGGCTGGG) in the 5'-flanking region that may be associated with the expression of genes encoding muscle-specific enzymes.

Amino Acid Sequence↗

[A case of chronic neutrophilic leukemia with abnormal karyotype].

A 75-year-old man was admitted to our hospital because of leukocytosis and thrombocytosis. The peripheral blood showed RBC 403 x 10(4)/microliters, Hb 14.1 g/dl, PLT 91 x 10(4)/microliters, and WBC 48,000/microliters with a differential count of 24% band forms, 65% segmented forms and 11% others. The bone marrow aspiration revealed myeloid hyperplasia (94.4% myeloid series, 4.8% erythroid series and 0.8% others), and NAP score was consistently high. The serum level of lysozyme and vitamin B12 were elevated. There were no signs of infection or other malignancy. Cytogenetic study of bone marrow cells showed mosaic karyotypes of 46,XY/46,XY,t(7;16) (q22;q24). The Ph1 chromosome was not found. A diagnosis of chronic neutrophilic leukemia was made. Serial chromosomal analysis showed the coexistence of a clone with 46,XY,t(7;16) (q22;q24) and that with 46, XY.

Aged↗

The aortic alpha 1-adrenergic receptor in familial amyloidotic polyneuropathy.

To assess the pathophysiology of the sympathetic nervous system in familial amyloidotic polyneuropathy (FAP), we used 3H-bunazosin to identify and characterize the alpha 1-adrenergic receptor in human aortic membranes. The binding of 3H-bunazosin was rapid, readily reversible, stereospecific, and saturable. The Scatchard analysis described a single class of binding sites with a dissociation constant (KD) of 0.370 +/- 0.035 nM and a maximal binding capacity (Bmax) of 11.8 +/- 1.30 fmol/mg protein in control patients. Competition analysis demonstrated the alpha 1-adrenergic specificity of the 3H-bunazosin binding sites in human aortic membranes. The KD and Bmax of 3H-bunazosin binding in four FAP patients was 0.274 +/- 0.052 nM and 7.79 +/- 0.15 fmol/mg protein, respectively; these values did not differ significantly from those in 14 control patients. An increase in Bmax or affinity of alpha 1-adrenergic receptors may not be the cause for denervation supersensitivity in FAP.

Adrenergic alpha-Antagonists↗

Studies of neurocirculatory effects of long-term L-threo-3,4-dihydroxyphenylserine administration in a patient with familial amyloidotic polyneuropathy.

The case is reported of a 57-year-old woman with familial amyloidotic polyneuropathy and concomitant orthostatic hypotension for which L-threo-3,4-dihydroxyphenylserine (L-threo-DOPS) was clinically effective. Testing of autonomic function under telemetric intra-arterial pressure monitoring before and during L-threo-DOPS treatment clearly demonstrated the pathophysiology of the sympathetic nervous system and its modification by L-threo-DOPS.

Amyloidosis↗

Alpha 2-adrenergic receptor in familial amyloidotic polyneuropathy.

alpha 2-Adrenergic receptor binding has been studied in platelet membranes from 16 patients with type 1 familial amyloidotic polyneuropathy (FAP) at various clinical stages and 15 normal subjects. Binding of the radioligand [3H]yohimbine to platelet membranes was used to examine alpha 2-adrenergic receptors. The number of alpha 2-adrenergic receptors were significantly lower in patients of the early stage than in normal subjects. Then, the numbers tended to be higher than those of normal subjects in the intermediate stage, and they were higher in the single advanced-stage patient studied. The reduction in alpha 2-adrenergic receptor numbers in platelet membranes from patients of the early stage might be explained by the down-regulation of the receptors in vascular smooth muscle, but it remains uncertain whether a high number of alpha 2-adrenergic receptors observed in the single advanced-stage patient might be explained by the up-regulation of the receptors.

Adult↗

Diagnosis of familial amyloidotic polyneuropathy: isolation of variant prealbumin.

A novel, small-scale method was developed for detecting carriers of a prealbumin variant associated with type 1 familial amyloidotic polyneuropathy (FAP). Prealbumin isolated from plasma by a two-step preliminary chromatographic procedure was further separated into two peaks by reverse-phase high-performance liquid chromatography. The normal and variant prealbumins were identified by secondary ion mass spectrometry. The procedure is relatively simple, reliable, and applicable to the definitive diagnosis of FAP in affected patients and also as a preclinical test for the offspring of patients with FAP.

Adolescent↗

The adult type pulmonary hamartoma in an 11-year-old boy.

Hamartoma of the lung occurs most often in persons after the age of 40, but quite rarely among children. This paper reports on an 11-year-old boy with a pulmonary hamartoma in the right upper lobe. The patient was asymptomatic, but a well demarcated, solitary, lobulated nodule with a "popcorn"-shaped calcification was visualised on chest x-ray film. An upper lobectomy was carried out to remove the lesion. The post-operative course was uneventful. Two years post-operatively, the child was symptom-free and has been developing normally.

Child↗

Elastase secretion in pancreatic disease.

To estimate the diagnostic value of elastase output in the duodenal aspirates during a pancreozymin secretin test, elastase as well as amylase, chymotrypsin, trypsin, and lipase was determined in 46 controls and 61 patients with various disease. The elastase output decreased significantly in chronic pancreatitis (mild exocrine insufficiency 13 and advanced eight), pancreatic cancer (n = 10), and liver cirrhosis (n = 14) when compared with the controls. The outputs of the four other enzymes also decreased in chronic pancreatitis and pancreatic cancer, not in liver cirrhosis. Low elastase output was found in four of 13 chronic pancreatitis patients with mild exocrine insufficiency, whereas low outputs of the other enzymes were observed in only one or less of the 13. The ratio of elastase to amylase alone was significantly lower in the pancreatic diseases. The results suggest that elastase is the most susceptible enzyme to pancreatic dysfunction and that its output and its ratio to amylase output provide a valuable index to assess the enzyme secretory capacity in the pancreatic diseases.

Cholecystokinin↗

Hyperamylasemia with papillary serous cystadenocarcinoma of the ovary.

A case of a 49-year-old housewife with persistent hyperamylasemia, intractable amylase-rich ascites, and papillary serous cystadenocarcinoma of the ovaries is presented. The hyperamylasemia was attributable to neoplastic production of salivary-type isoamylase by analysis of isoamylase in the serum, urine, ascites, primary tumor of the ovaries and metastatic tumor of the lymph nodes. Cellular localization of amylase in the tumor tissues was demonstrated immunohistochemically in the primary and metastatic tumors using an indirect immunoperoxidase method.

Amylases↗

The excretion of dimethadione in pure pancreatic juice and bile in postoperative patients.

The excretion of dimethadione (DMO) in pure pancreatic juice and bile was studied in postoperative patients undergoing external drainage of pancreatic juice and in those who had undergone percutaneous transhepatic cholangiodrainage. During and after oral administration of trimethadione, which is the precursor of DMO, pancreatic DMO concentration closely paralleled plasma DMO concentration. Pancreatic juice/plasma concentration ratio for DMO exceeded 1.0. In a patient with a large pancreatic cyst communicating with the main pancreatic duct, pancreatic DMO concentration after single rapid injection of secretin inversely correlated with the flow rate, while its output depended directly on the rate. Biliary DMO output after secretin injection was closely dependent on the flow rate, but was extremely low. The present results are essentially compatible with the findings previously observed in dogs.

Adult↗

Follow-up study of chronic pancreatitis.

The general profile of pain in the evolution of pancreatitis was analysed in relation to exocrine and endocrine pancreatic function in 127 patients with primary chronic pancreatitis followed up over 3 years. Pain decreased or disappeared in 67.8% and 55.9% of calcifying pancreatitis, respectively. While pancreatic exocrine function remained abnormal in spite of an improvement of pain in 72% of 18 patients with calcifying pancreatitis, it improved with the amelioration of pain in 64% of 25 patients with non-calcifying pancreatitis during the follow-up period. Alcohol abstinence seems most important for pain relief in patients with non-calcifying pancreatitis but not calcifying pancreatitis. Changes in glucose tolerance test were not related with those in pain. In calcifying pancreatitis, 69.2% of patients with calcifying pancreatitis were diabetic or became so, while 66.7% of patients with non-calcifying pancreatitis remained non-diabetic during the observation period.

Adult↗