Identification of two novel mutations (1448delA and Q682X) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1.
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Amino Acid Substitution↗
Biomedical subjects
H Ohtsuka
Publications and source records attributed to H Ohtsuka.
Postlaminectomy cervical spinal cord compression demonstrated by dynamic magnetic resonance imaging. Case report.
This 32-year-old man had undergone C3-7 laminectomy for posttraumatic cervical myelopathy associated with spinal canal stenosis. He developed recurrent myelopathy 5 years after the initial operation. Dynamic magnetic resonance (MR) imaging of the cervical spine demonstrated spinal cord compression with diffuse canal stenosis while the neck was in the extended position, whereas no significant stenosis was visualized in the neutral position. Sagittal and axial MR images of the affected levels demonstrated striking changes in the cervical spinal cord configuration. Because of an associated hard osteophyte formation and protruded disc, as well as a hypertrophied posterior longitudinal ligament, an anterior decompression and fusion with plate fixation were performed from C-4 to C-7. The postoperative course was uneventful, with subsequent neurological improvement. It is concluded that dynamic MR imaging aids the search for the cause of recurrent postlaminectomy cervical myelopathy after initial improvement following decompressive surgery.
Adult↗
The N-terminal Z repeat 5 of connectin/titin binds to the C-terminal region of alpha-actinin.
Connectin/titin, a 3000 kDa protein, links the Z line to the myosin filament in striated muscle sarcomeres. Using the yeast two-hybrid system, the present work shows that the N-terminal Z repeat 5 region (amino acids 447-472) of connectin binds to the C-terminal region (amino acids 825-897) of alpha-actinin, the main constituent of the Z line.
Actinin↗
Binding of the N-terminal 63 kDa portion of connectin/titin to alpha-actinin as revealed by the yeast two-hybrid system.
Connectin/titin is a 3000 kDa protein which links the myosin filament to the Z-line in vertebrate striated muscle sarcomeres. To search for the Z-line proteins to which connectin binds, the yeast two-hybrid system was applied using cDNA coding the N-terminal 63 kDa fragment of connectin. Two clones coding the C-terminal half region of alpha-actinin (amino acids, 343-897 and 446-897) were obtained. Enzyme-linked immunosorbent assay clearly demonstrated the interactions of alpha-actinin and the N-terminal 63 kDa fragment of connectin in vitro. Thus it is concluded that the N-terminal 63 kDa portion of connectin binds to alpha-actinin in the Z-line of myofibrillar sarcomeres.
Actinin↗
A patient with unusual vascular malformation of cheek to lip and deep tissues.
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Aged↗
An abnormal sodium metabolism in Japanese patients with essential hypertension, judged by serum sodium distribution, renal function and the renin-aldosterone system.
OBJECTIVE: The role of the renin-aldosterone system and the ability of renal sodium reabsorption to facilitate pressure natriuresis were analyzed by using a sufficient number of Japanese patients with essential hypertension. METHODS: We studied 3222 normal Japanese subjects (610 in Kashiwa City Hospital and 2612 in Shinshu University Hospital), 741 Japanese patients with essential hypertension (256 in Kashiwa City Hospital and 485 in Shinshu University Hospital), 20 patients with aldosterone-producing adenomas and 11 patients with idiopathic hyperaldosteronism to determine the possible roles of sodium, renal function, and plasma aldosterone concentration (PAC) on blood pressure elevation. Inappropriate elevation of aldosterone levels [elevation of the aldosterone:plasma renin activity (PRA) ratio] was used to assess aldosterone action. RESULTS: The peak of the serum sodium distribution curve was approximately 2 mmol/l higher in the patients with essential hypertension than it was in controls. The prevalence of higher serum sodium concentrations (> or = 147 mmol/l) also was increased significantly hypertensive patients. Age-related deterioration of renal function did not explain the hypertension and abnormal sodium metabolism in the hypertensive patients. In stepwise regression analysis, the serum sodium concentration was related inversely to the PRA and positively to the PAC:PRA ratio. Although there was an inverse relationship between urinary sodium excretion (representing sodium intake) and the PRA, urinary sodium excretion proved not to be significant as a source of variation in the PAC or in the PAC:PRA ratio in the hypertensive patients. Although the PAC was within the normal range in patients with serum sodium concentrations of 147 mmol/l or more and an elevated PAC:PRA ratio, it was inappropriately high for the stimulus applied, as indicated by the PRA; this is similar to the situation with aldosterone-producing adenomas or idiopathic hyperaldosteronism. CONCLUSION: Serum sodium distribution patterns differed between normal subjects and patients with essential hypertension in this Japanese population. The deterioration of renal function and increased sodium intake did not explain this abnormal sodium metabolism. A higher serum sodium concentration is related to an elevated blood pressure, and, in some patients, an inappropriate elevation of plasma aldosterone levels. Of the Japanese hypertensive patients, 10-14% exhibited serum sodium concentrations of 147 mmol/l or more and inappropriate elevations of aldosterone level (suppressed PRA and normal aldosterone level). The defect in these patients presumably lies in the inappropriately high secretion of aldosterone.
Adult↗
Merkel cell carcinoma and multiple Bowen's disease: incidental association or possible relationship to inorganic arsenic exposure?
An 81-year-old Japanese male was referred to our clinic in 1991 with multiple Bowen's disease. The associated hyperpigmentation of the trunk and extremities and palmoplantar keratotic nodules indicated that he had suffered from chronic arsenic poisoning. Interestingly, he was a native of Namikata in Ehime, Japan, where many residents have suffered from multiple Bowen's disease with internal malignancy. Arsenic exposure was strongly suspected. Two years later, Merkel cell carcinoma developed on the dorsum of his right hand, where Bowen's disease lesions were absent. Metastasis of this Merkel cell carcinoma led to his eventual death one year later. To our knowledge, this is the first report of Merkel cell carcinoma associated with multiple Bowen's disease. Chronic arsenic poisoning may be responsible for the association of these two rare skin neoplasms.
Aged↗
The physiological property and function of the electrolyzed-ionized calcium Aquamax on water molecular clusters fractionization.
Aquamax, the ionized mineral (Ca, 21 mg/ml; MG, 0.068 mg/ml; Na 0.13 mg/ml; K, 0.006 mg/ml) is a fermented organic mineral extract. The fundamental physiological property and function of this mineral is to promote the molecular level mineral supply to the cell inside. The contained minerals exist at a molecular level to fractionize the molecular clusters of water and to make water's penetration ratio into objects higher only at 0.1-0.2% concentration. Existing minerals, especially the calcium, were barely dissolved in water, and its low penetration was caused by its low electrolyzed behavior plus the effects from an anion mineral, such as phosphorous, sulfur, nitrogen, or any oxalic acid combining with a colloidal calcium to construct and crystallize as the calcium phosphate and the calcium sulfate. Aquamax minerals penetrate into objects to fractionize water molecular clusters and to make water functional, neutralize in the anion mineral and oxalic acid elements, raise the object's electric conductivity, and preserve perishables.
Calcium↗
Inhibitory effect on LPS-induced tumor necrosis factor in calves treated with chlorpromazine or pentoxifylline.
The inhibitory effect of chlorpromazine (CPZ), pentoxifylline (PTX) and dexamethasone (DEX) was investigated in a model of endotoxin shock in Holstein calves following an intravenous administration of Esherichia coli endotoxin (LPS). Initial correlations with its effects on the levels of tumor necrosis factor (TNF), a pivotal mediator of endotoxin shock, and clinical signs were obtained. The pretreatment of CPZ or DEX significantly decreased the serum levels of TNF, and reduced endotoxic shock. But the pretreatment of PTX hardly reduced the increase of serum TNF levels and endotoxin shock. The levels of serum endotoxin were not significantly different a minute of postinjection of LPS in calves. The results of this study indicate that pretreatment of CPZ or DEX inhibit various biological effects on endotoxin in calves.
Animals↗
Leukocyte emigration in normal calves and calves with leukocyte adhesion deficiency.
The emigration of leukocytes from calves with beta 2 integrin deficiency (BLAD) into bronchoalveolar spaces and scraped tissues was compared to that of normal calves. Polymorphonuclear neutrophils were found in bronchoalveolar lavage fluid from BLAD-affected calves showing chronic pneumonia. The neutrophils were complement receptor type 3 (CR3)-negative when characterized by flow cytometric analysis using anti-CD18 monoclonal antibody. Chemiluminescent response mediated by CR3 in neutrophils isolated from bronchoalveolar lavage fluid from BLAD-calves showed similar findings obtained from CR3-deficient neutrophils. Neutrophils from normal calves migrated into scraped tissue which was prepared in an upper gluteal surface area, whereas few leukocytes from calves with BLAD migrated to the scraped tissue, evaluated by skin window (Rebuck) method. These findings confirmed the extravasation of CR3-deficient leukocytes into bronchoalveolar lumen in BLAD calves, and demonstrated in vivo characteristics of extravasating property of normal and CR3-deficient neutrophils into scraped tissues.
Animals↗
Metabolic alkalosis in coliform mastitis.
Values of blood gas, serum chloride, and potassium were tabulated for 21 dairy cows with coliform mastitis. Severe cases showed marked clinical signs such as loss of appetite and depression of digestive tract motility, and metabolic alkalosis such as an increase in blood pH, hypochloremia and hypokalemia compared with normal and mild cases (p < 0.01). The results showed that metabolic alkalosis can be detected more easily than acidosis in cases of severe coliform mastitis.
Alkalosis↗
Evaluation of blood acid-base balance after experimental administration of endotoxin in adult cow.
Esherichia coli endotoxin was administered intravenously to 7 Holstein adult cows, to evaluate the effect of endotoxin on acid-base balance. Endotoxin shock was observed immediately after the administration of endotoxin. A loss of appetite and depression of digestive tract motility continued for about 120 hr after the challenge. Metabolic alkalosis following hypochloremia and hypokalemia were particularly pronounced at 12 to 72 hr after the administration of endotoxin.
Acid-Base Equilibrium↗
Detection of interleukin-1 and interleukin-6 on cryopreserved bovine mammary epithelial cells in vitro.
This investigation was performed to determine whether primary cultures of mammary cells from lactating cows would sustain production of interleukin (IL)-1, IL-6, and tumor necrosis factor (TNF), and express mRNA for cytokines interleukin (IL)-1alpha, IL-1beta, IL-2, IL-4, IL-6, IL-10, interferon (INF)-tau, TNF-alpha, and granulocyte-macrophage colony-stimulating factor (GM-CSF) by the reverse transcription-polymerase chain reaction (RT-PCR) in vitro. Cryopreserved mammary epithelial cells collected from cows at 1 week post calving were plated in collagen-coated 24-well culture plates (250,000 cells/well). IL-1 and IL-6 productions were measured using a A375 cell growth inhibition assay and a 7TD1 hybridoma proliferation assay, respectively. Production of IL-1 was demonstrated in mammary epithelial cells cultured with unsupplemented medium, but was not produced by cells cultured in medium supplemented with fetal bovine serum. IL-6 production in the conditioned medium was continued at steady level until day 14, whereas IL-6-like bioactivity was not detected in medium alone. TNF-like activity was not detectable in any experiments. This study also demonstrated the expression of mRNA for multiple cytokines including IL-1alpha, IL-1beta, IL-6, IL-10, TNF-alpha, and GM-CSF by RT-PCR in mammary cell cultures. The results indicate that bovine mammary epithelial cells of lactating cows produce IL-1 and IL-6 and have gene expression for multiple cytokines. This in vitro model will be useful to investigate the function and regulation of IL-1 and IL-6 in the lactating mammary gland.
Animals↗
Circulating tumor necrosis factor and interleukin-1 after administration of LPS in adult cows.
This study examined the levels of serum tumor necrosis factor (TNF), interleukin-1 (IL-1) and plasma cortisol levels in adult cows after intravenous administration of lipopolysaccharide (LPS) extracted from Escherichia coli. The adult cows exhibited clinical signs of endotoxic shock. The mean concentrations of serum TNF was 557.9 U/ml and serum IL-1 was 90.6 U/ml at 2 hr after LPS administration following severe endotoxic shock. Plasma cortisol concentrations increased immediately and a peak level was 131.4 ng/ml at 1 hr after LPS challenge. These results suggested that circulating concentrations of TNF, IL-1, and cortisol may be associated with clinical signs of endotoxemia in adult cows.
Animals↗
Use of biotinylated-cysteinyl-tRNA as a non-RI probe in protein synthesis.
A convenient method for the preparation of biotinylated aminoacyl-tRNA to use in the non-radioisotopic (non-RI) detection of cell-free translation products was developed. After aminoacylation of E. coli tRNA(Cys) with L-cystein, its sulfhydryl group was modified with N-(6-[Biotinamide]hexyl)-3'-(2'-pyridyl dithio) propionamide or 1-Biotin amido-4-(4'-[maleimidomethyl] cyclohexane-carboxamido) butane. These biotin-labelled cysteinyl-tRNA are expected to function as the non-RI probe for protein synthesis equally to or even better than the biotinylated lysyl-tRNA which is now commercially available.
Biotin↗
A 11.5-kb 5'-terminal cDNA sequence of chicken breast muscle connectin/titin reveals its Z line binding region.
A partial 5'-region cDNA (11.5 kb) of chicken breast muscle connectin/titin encoding 3752 amino acids was sequenced. The predicted amino acid sequence contains 31 immunoglobulin C2 motifs and 10 interdomains. The sequence suggests a skeletal muscle type of connectin isoforms. Immunoelectron microscopic studies using antisera raised against several products of the cDNA fragments expressed in E. coli revealed that a region of some 800 amino acids from the N terminus of connectin is involved in its binding to the Z line in a sarcomere.
Animals↗
The presence/absence polymorphism and evolution of the p53 pseudogene in the genus Mus.
Distribution of the p53 pseudogene within the house mouse species (genus Mus) was studied with polymerase chain reaction for 37 individuals that were caught at different localities. Pseudogene-specific fragments were detected in some, but not all, individuals of Mus musculus subspecies regardless of locality and type of subspecies. In addition, 3 of 7 individuals belonging to different Mus species carried the pseudogene in their genomes. These results show the existence of an interspecific presence/absence polymorphism of the p53 pseudogene in mice. Sequence analysis of 11 amplified 0.3-kb fragments suggested that the pseudogene originated in an ancestral mouse about 7 million years ago. Thus alleles with and without the p53 pseudogene have persisted through the mice speciation. The evolutionary rate for the p53 functional gene was also estimated to be about 3.3 x 10(-9) per nucleotide site per year.
Animals↗
Comparative aspects of muscle elastic proteins.
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Animals↗