A boy with intrachromosomal triplication of the X chromosome.
Explore the source record for details and available documents.
Adolescent↗
Biomedical subjects
K Itoh
Publications and source records attributed to K Itoh.
[Gastric haemorrhagic mucosal lesion in uremic patients].
It is well known that uremic patients frequently exhibit hemorrhagic lesions of the digestive tract and the recent introduction and progression of the hemodialysis treatment has changed the frequency of occurrence of a variety of gastrointestinal diseases. We have paid much attention on the upper digestive tract lesions of patients undergoing hemodialysis for chronic renal failure and have found that these lesions are predominantly mucosal hemorrhage of the stomach and gastroduodenal ulcers are rare. We have investigated the mechanism of onset of gastric hemorrhagic mucosal lesions focusing on blood flow, oxygen supply and infection of Helicobacter pylori. We conclude that not the blood flow but oxygen supply seems to play an important role and oxygen radicals produced at hemodialysis also may participate in the pathogenesis of mucosal hemorrhage. On the other hand, Helicobacter pylori does not seem to be important, because its infection rate is low among the patients investigated.
Gastric Mucosa↗
[A case of spontaneous submucosal hematoma of the esophagus].
Explore the source record for details and available documents.
Adult↗
[Waldenström's macroglobulinemia effectively treated with chronic daily oral administration of low-dose etoposide].
A 77-year-old woman with complaints of fever and systemic lymphadenopathy was admitted to our hospital on February 16, 1995. Serum IgM was elevated to 2,097 mg/dl. Lymph node biopsy showed diffuse infiltration with lymphoplasmacytoid cells. Thus, she was diagnosed as having Waldenström's macroglobulinemia. Considering her age and congestive heart failure, she was treated with oral administration of low-dose etoposide (25 mg/day). Splenomegaly and superficial lymphadenopathy disappeared after one course of therapy. Until her death due to pneumonia, complete remission continued for one year without any symptoms and adverse effects except for mild diarrhea. Low-dose etoposide therapy was considered to be well tolerated and useful for elderly patients with Waldenström's macroglobulinemia.
Administration, Oral↗
Pathological and histological study on retinoblastoma.
We studied 30 cases of retinoblastoma (Rb) pathologically and histochemically. Rb cases were classified into two types, 18 cases of differentiated (D-type) and 12 undifferentiated type (U-type) according to International Classification of Diseases for Oncology(1990, WHO). D-type of Rb is found more commonly in younger infants less than 1 year, but U-type found more frequently in aged infants from 2 to 4 years. D-type Rb showed more marked necrotic areas, degeneration and calcification. Immunohistochemical stains were carried out in 21 cases of Rb by use of MIB-1, PCNA, bcl-2, Fas, BAX, NF, SP and Tunel stains, respectively. MIB-1 is a good marker of proliferation of Rb cells and its high positivity correlates closely to more extensive necrotic areas of Rb cases. There are only a few positive cells by Tunel stain suggesting apoptotic cells, but diffuse positive cells by bcl-2 and Fas and completely negative by BAX gene. From these results, it can be seen that differentiation of Rb cells may be affected by bcl-2 and Fas but not by BAX gene.
Age Factors↗
[Comparison of single sample methods for determination of plasma clearance using 99mTc-MAG3].
We compared relationship among three single blood sampling methods which have been proposed for determination of plasma clearance with 99mTc-MAG3. Russell's and Bubeck's algorithms were employed for 48 adults (average age: 53 years) and Bubeck's and Piepsz's algorithms were used in 9 children (average age: 5.8 years). Three methods showed very high correlation among them. However, Russell's and Piepsz's methods were about 1.4 times higher than Bubeck's method in calculating plasma clearance of 99mTc-MAG3. The present study indicates that three methods discussed here are useful for the determination of plasma clearance with 99mTc-MAG3. In addition, Bubeck's method may be preferable as a reference for single plasma sampling method because of common application to adults and children.
Adolescent↗
[Usefulness of myocardial scintigraphy with 99mTc-tetrofosmin for diagnosis in 2 cases of acute coronary syndrome].
Patients with acute coronary syndrome require accurate diagnosis and treatment. We found that emergency myocardial scintigraphy with 99mTc-tetrofosmin was useful for diagnosis in 2 patients with acute coronary syndrome. The first patient was a 66-year-old man, who was hospitalized with chest discomfort at rest. Blood tests, electrocardiography, and echocardiography revealed no unusual findings. Myocardial scintigraphy with 99mTc-tetrofosmin disclosed moderately reduced uptake extending from the anterior wall to the apex. Coronary arteriography revealed 75% stenosis of the left main trunk. He was diagnosed as having unstable angina pectoris and coronary bypass surgery was performed. The second patient was a 61-year-old man, who was hospitalized with chest discomfort. Slight leukocytosis and flat T waves in leads V5 and V6 on electrocardiogram were detected, but echocardiographic findings were not abnormal. Myocardial scintigraphy with 99mTc-tetrofosmin revealed a defect in the posterolateral wall. Coronary arteriography showed total obstruction of #14, and a diagnosis of acute myocardial infarction was established. PTCA of #14 was performed to achieve reperfusion.
Aged↗
[Sensitive enzyme-linked immunosorbent assay for human serum amyloid A (SAA) and application to clearance study].
Serum amyloid A (SAA), an apolipoprotein of high density lipoprotein (HDL), is a sensitive acute phase reactant. We established a sandwich type enzyme-linked immunosorbent assay for human SAA utilizing a monoclonal antibody and polyclonal antibodies. This assay was sensitive enough to detect SAA at 40 pg/ml. The use of nonionic detergent, Tween-20, in reaction buffer was essential to enhance specific binding of SAA to antibodies and reduce nonspecific binding to plastic. The values by this assay showed a good agreement with those by previously established latex agglutination immunoassay. Plasma clearance of human SAA was studied in mice by injection with SAA-rich human HDL and serial SAA measurement by the present assay. Half-life of injected SAA was 55 minutes, similar to mean of the reported value of murine SAA isotypes.
Acute-Phase Proteins↗
Cloning and characterization of human CIRP (cold-inducible RNA-binding protein) cDNA and chromosomal assignment of the gene.
Cold stress induces in microorganisms the synthesis of several proteins that are involved in various cellular processes such as transcription, translation and recombination. Recently, the cold-inducible RNA-binding protein (Cirp) was found to be induced in rodent cells by mild cold stress (32 degrees C). Cirp consists of an N-terminal RNA-binding domain and a C-terminal Gly-rich domain, and plays an essential role in cold-induced suppression of cell proliferation. We report here the cloning of a cDNA encoding an 18-kDa protein with 95.3% identity in an amino-acid sequence to that of mouse Cirp. The human CIRP gene has been mapped to the chromosomal locus 19p13.3 by fluorescence in-situ hybridization. CIRP mRNA is constitutively expressed in all cell lines examined, including K562, HepG2, NC65, HeLa, T24, and NEC8 cells. In all of them, the levels of CIRP mRNA and protein were increased within 12 h after a temperature down-shift from 37 degrees C to 32 degrees C. These results demonstrated that CIRP is a cold-shock protein in human cells. Identification of CIRP may provide a clue to the regulatory mechanisms of cold responses in human cells.
Amino Acid Sequence↗
Activity-dependent regulation of N-cadherin in DRG neurons: differential regulation of N-cadherin, NCAM, and L1 by distinct patterns of action potentials.
Cell adhesion molecule (CAM) expression is highly regulated during nervous system development to control cell migration, neurite outgrowth, fasciculation, and synaptogenesis. Using electrical stimulation of mouse dorsal root ganglion (DRG) neurons in cell culture, this work shows that N-cadherin expression is regulated by neuronal firing, and that expression of different CAMs is regulated by distinct patterns of neural impulses. N-cadherin was down-regulated by 0.1 or 1 Hz stimulation, but NCAM mRNA and protein levels were not altered by stimulation. L1 was down-regulated by 0.1 Hz stimulation, but not by 0.3 Hz, 1 Hz, or pulsed stimulation. N-cadherin expression was lowered with faster kinetics than L1 (1 vs. 5 days), and L1 mRNA returned to higher levels after terminating the stimulus. The RSLE splice variant of L1 was not regulated by action potential stimulation, and activity-dependent influences on L1 expression were blocked by target-derived influences. The results are consistent with changes in firing pattern accompanying DRG development and suggest that functional activity can influence distinct developmental processes by regulating the relative abundance of different CAMs.
Action Potentials↗
Generation and characterization of transgenic mice expressing a human mutant alpha-galactosidase with an R301Q substitution causing a variant form of Fabry disease.
Transgenic mice expressing a human mutant alpha-galactosidase with an R301Q substitution, which was found in a patient with a variant form of Fabry disease, were established. The mice transcribed a sufficient amount of alpha-galactosidase mRNA, but the steady-state levels of the enzyme protein were decreased in liver, kidney and heart, only residual activity being detected in these tissues. The mice will be useful for the clarification of the defective regulation of the structurally altered enzyme protein expressed by the mutant gene at the organ or individual level as well as for the evaluation of drugs that stabilize and/or activate the mutant alpha-galactosidase.
Animals↗
Fetal diagnosis of galactosialidosis (protective protein/cathepsin A deficiency).
The fetal diagnosis of galactosialidosis is performed by measuring carboxypeptidase (cathepsin A) activity in cultured villous cells and by immunofluorescence analysis with an antibody against an oligopeptide corresponding to the N-terminal domain of the human mature protective protein. Neither carboxypeptidase activity nor immunofluorescence was detected in cultured villous cells derived from an at-risk fetus or in cultured fibroblasts derived from the sister with galactosialidosis. Neuraminidase and beta-galactosidase activities were also confirmed to be deficient or low. A direct assay system for protective protein/cathepsin A is useful for the accurate prenatal diagnosis of galactosialidosis.
Antibodies↗
Identification and analysis of a static culture-specific cell wall protein, Tir1p/Srp1p in Saccharomyces cerevisiae.
A 100-kDa protein was found to be a major cell wall protein in Saccharomyces cerevisiae cells cultured without shaking, but was not present in cells cultured with shaking. The amino acid sequence of this protein was identical to the sequence of Tir1p/Srp1p. TIR1/SRP1 has previously been identified as a gene induced by glucose, cold shock or anaerobiosis and was believed to be a cell membrane protein but not a cell wall protein. However, we found that beta-1,3-glucanase solubilized Tir1p/Srp1p from the cell wall and the purified Tir1p/Srp1p reacted with antiserum to beta-1,6-glucan and contained glucose. These results suggest that Tir1p/Srp1p is a major structural cell wall protein in the static-cultured yeast cells and is bound to the cell wall through beta-1,6-glucan. TIR1/SRP1 mRNA was transcribed only in the static culture and its transcription was regulated by the ROX1 repressor.
Amino Acid Sequence↗
Action potential-dependent regulation of gene expression: temporal specificity in ca2+, cAMP-responsive element binding proteins, and mitogen-activated protein kinase signaling.
Specific patterns of neural impulses regulate genes controlling nervous system development and plasticity, but it is not known how intracellular signaling cascades and transcriptional activation mechanisms can regulate specific genes in response to specific patterns of action potentials. Studies using electrical stimulation of mouse dorsal root ganglion neurons in culture show that the temporal dynamics of intracellular signaling pathways are an important factor. Expression of c-fos varied inversely with the interval between repeated bursts of action potentials. Transcription was not dependent on a large or sustained increase in intracellular Ca2+, and high Ca2+ levels separated by long interburst intervals (5 min) produced minimal increases in c-fos expression. Levels of the transcription factor cAMP-responsive element binding protein (CREB), phosphorylated at Ser-133, increased rapidly in response to brief action potential stimulation but remained at high levels several minutes after an action potential burst. These kinetics limited the fidelity with which P-CREB could follow different patterns of action potentials, and P-CREB levels were not well correlated with c-fos expression. The extracellular-regulated kinase (ERK) mitogen-activated protein kinases (MAPK) also were stimulated by action potentials of appropriate temporal patterns. Bursts of action potentials separated by long intervals (5 min) did not activate MAPK effectively, but they did increase CREB phosphorylation. This was a consequence of the more rapid dephosphorylation of MAPK in comparison to CREB. High expression of c-fos was dependent on the combined activation of the MAPK pathway and phosphorylation of CREB. These observations show that temporal features of action potentials (and associated Ca2+ transients) regulate expression of neuronal genes by activating specific intracellular signaling pathways with appropriate temporal dynamics.
Action Potentials↗
Immunocytochemical detection of accumulated substrates in cultured fibroblasts from patients with the infantile and adult forms of Sandhoff disease.
Explore the source record for details and available documents.
Adult↗
Determination of FAD-binding domain in flavin-containing monooxygenase 1 (FMO1).
The flavin-containing monooxygenases (FMOs) are a family of flavoenzymes and contain one molecule of FAD per monomer. In order to demonstrate where FMO interacts with FAD, four mutants for the rat liver FMO1 protein were expressed in yeast and characterized. All four mutants were immunochemically similar to the unmodified form, although the contents of FAD in all four mutants were much lower than that in the unmodified form. Interestingly, the mutant generated by changing the first glycine of the proposed FAD-binding domain (GxGxxG) to alanine revealed catalytic activities, but was lower than those seen with the unmodified form. The conversion of the first glycine to alanine markedly increased and decreased the Km and Vmax values for imipramine N-oxidation, respectively. The other three mutants (RFMOm2, RFMOm3, and RFMOm4) were catalytically inactive. Our results suggest that three glycines, especially the second and third glycines, in the proposed FAD-binding domain were necessary for FMO to show catalytic activities. Using RFMOm1 and the unmodified form, the effects of n-octylamine on the activity of FMO1 were investigated. The activities of both wild-type and RFMOm1 enzymes for all of the compounds examined were enhanced by n-octylamine. The Km and Vmax values of both RFMOm1 and the unmodified form for imipramine N-oxidation were lowered and raised by n-octylamine, respectively.
Animals↗
Vocal identification of speaker and emotion activates different brain regions.
Regional cerebral blood flow was measured in six healthy volunteers by positron emission tomography during identification of speaker and emotion from spoken words. The speaker identification task activated several audio-visual multimodal areas, particularly the temporal poles in both hemispheres, which may be involved in connecting vocal attributes with the visual representations of speakers. The emotion identification task activated regions in the cerebellum and the frontal lobe, suggesting a functional relationship between those regions involved in emotion. The results suggest that different anatomical structures contribute to the vocal identification of speaker and emotion.
Adolescent↗
Increased transcript level of RBM3, a member of the glycine-rich RNA-binding protein family, in human cells in response to cold stress.
Although the cold-shock responses of microorganisms have been extensively investigated, those of mammalian cells are just beginning to be understood. Recently, CIRP, a member of the glycine-rich RNA-binding protein (GRP) family, has been identified as the first cold-shock protein in mammalian cells. Here, we report that RBM3, another member of the GRP family, is induced in human cells in response to cold stress (32 degrees C). RBM3 transcripts were constitutively expressed in all cell lines examined including K562, HepG2, NC65, HeLa, and T24 cells. In all of them, the transcript levels of RBM3 were increased at 24 h after the 37 to 32 degrees C temperature down-shift. In NC65 cells, the kinetics of RBM3 induction was different from that of CIRP. Protein synthesis inhibitors cycloheximide and puromycin induced RBM3 transcripts, but cadmium chloride, H2O2, ethanol, and osmotic shock had no effect. Combined with the different tissue distribution of expression, these results suggest that RBM3 and CIRP play distinct roles in cold responses of human cells.
Carcinoma, Hepatocellular↗