[A case of bilateral paramedian thalamic infarct syndrome that presented with consciousness disturbance and vertical gaze palsy].
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Cerebral Infarction↗
Biomedical subjects
T Kamiya
Publications and source records attributed to T Kamiya.
Factor X Nagoya 1 and Nagoya 2: a CRM- factor X deficiency and a dysfunctional CRM+ factor X deficiency characterized by substitution of Arg306 by Cys and of Gly366 by Ser, respectively.
We have identified, in two unrelated patients, factor X deficiency that we have designated factor X Nagoya 1 and Nagoya 2, respectively. The proband with factor X Nagoya 1 showed factor X activity level of 3% and factor X antigen level < 10% of the normal control value. All the exons and intron/exon junctions of the factor X gene were studied using a strategy combining polymerase chain reaction (PCR) amplification and nonradioactive single-strand conformational polymorphism (SSCP) analysis. Exon 8 containing DNA fragment of the proband with factor X Nagoya 1 showed aberrant migration on SSCP analysis. All exon-containing DNA fragments amplified by PCR were sequenced, and we identified a C-to-T substitution in exon 8 in the human factor X gene of the proband, which results in the replacement of Arg306 by Cys. This genetic defect has been transmitted from her father, and her sister also carried the same mutation; both showed almost half the normal levels of both factor X activity and antigen. The coordinates of human factor Xa indicated that Arg306 in the catalytic domain is positioned at the beginning of the alpha-helix near the second EFG-like domain. The substitution for Arg of Cys has been supposed to cause the destruction of local alpha-helix formation, possibly leading to the secretion problem. The proband with dysfunctional factor X Nagoya 2 was characterized by factor X activity level of 34% with normal factor X antigen level of 80%. We identified one substitution of G for A in exon 8 in the human factor X gene of the proband, which results in the replacement of Gly366 by Ser. As the Gly366 is positioned at the primary substrate binding pocket. the replacement of Gly with Ser would cause a defect of substrate binding, leading to the loss of enzymatic activity.
Adult↗
[Effect of diltiazem on jugular bulb oxygen saturation (SjO2)].
We investigated the effect of diltiazem on jugular bulb oxygen saturation (SjO2) in patients undergoing superficial temporal artery-middle cerebral artery anastomosis. In the presence of stable vital signs, diltiazem was administered by continuous infusion (2 micrograms.kg-1.min-1). There was no significant change in blood pressure, heart rate, SjO2 in response to diltiazem administration. The arterial plasma concentration of diltiazem reached 75 +/- 14.2 ng.ml-1 after 180 min. The difference of areas under the curve between the arterial and jugular venous diltiazem concentrations from start of infusion to the end was significant. We conclude that this dose of diltiazem produced effective concentration and uptake in the brain tissue, but produced no significant effect on jugular bulb oxygen saturation (SjO2).
Aged↗
[A retrospective study on the development of inhibitors in Japanese hemophiliacs (second report, 1994 study). Research Group of Blood Products for Hemophilia Inhibitor].
In this report, we discuss the findings of a 1994 retrospective study concerning the rate of inhibitor formation in Japanese hemophiliacs. The study was the second of its kind, following on the first in 1991 (Kamiya et al. 1995 Int. J. Hematology). The records of 77 medical institutions were examined. Inhibitors were found in 6.50% (140 of 2154) of the patients with hemophilia A (HA), and 5.21% (22 of 422) of those with hemophilia B (HB). The median age for antibody formation was 10.7 years in patients with HA, and 4.5 years in those with HB. The median period (exposure period) from initial plasma factor concentrates exposure to inhibitor formation was 46 days and 20 days, respectively, in the HA and HB patients. Among the HA inhibitor patients, those with a large deletion or a nonsense mutation were aged 17.4 years or less (0.58, 1.7, 3.5, 5.5, 7.0 and 17.4), whereas those with intron 22 inversion were aged 55.7 years or less (1.3, 1.3, 1.8, 33.0, 36.1, 37.7, 43.9, 47.9 and 55.7).
Adolescent↗
Thrombospondin 2 gene expression is correlated with decreased vascularity in non-small cell lung cancer.
Stromal vascularity is thought to be a major factor involved in the progression of carcinoma. However, the crucial mechanisms of vascularization in the stroma are not well understood. Vascularity could be regulated by various cytokines produced by neoplastic or stromal cells in carcinoma. Thrombospondin (TSP) has an inhibitory role against vascularization in vitro, although the biological significance of TSP has not been characterized in vivo. We examined expression of TSP1 and TSP2 genes in 78 non-small cell lung cancers (NSCLCs) and 33 extraneoplastic lung tissue samples by reverse transcription-PCR. TSP1 expression was detected in 66.7% (52 of 78) of NSCLCs and in 69.7% (23 of 33) of extraneoplastic lung tissue specimens. TSP2 expression was seen in 48.7% (38 of 78) of NSCLCs, whereas 72.7% (24 of 33) of extraneoplastic lung tissue samples showed TSP2 gene expression. TSP2 expression was significantly decreased in NSCLC as compared with extraneoplastic lung tissue (chi2 test, P=0.019). Vascularity in the NSCLC was inversely correlated with TSP2 gene expression (Mann-Whitney U test, P=0.009). Patients with adenocarcinoma positive for TSP2 gene expression (22 of 49) showed significantly better prognosis than those without TSP2 (27 of 49; Cox-Mantel test, P=0.034). TSP1 expression showed no apparent correlation with these factors. These results suggested that TSP2 had an inhibitory role against vascularization and progression of NSCLC.
Carcinoma, Non-Small-Cell Lung↗
[Prospective matched control study concerning the treatment and quality of life of hemophiliacs with inhibitors].
Factor VIII (IX) inhibitors represent one of the most serious problems for the treatment of patients with hemophilia. The Blood Products Research Organization (Japan) has supported a study group for treatment of hemophiliacs with inhibitors. In 1995 the study group started a prospective matched control study of hemophiliacs with and without inhibitors and compared such factors as quality of life and economic cost. Each inhibitor patient was matched with a control patient in terms of age, type of hemophilia, and severity of hemophilia. A total of 136 patient-pairs were enrolled. Bleeding episodes were more frequent in the control group than in the inhibitor group. Days of hospitalization, days in wheelchairs, and the number of impaired joints were significantly higher for the inhibitor group. Number of blood-product infusions, days of bed rest at home, and days of brace use were the same for both groups. Blood-product expenditures were significantly higher for the inhibitor group than for the control group (yen 10,872,283/patient/year vs. yen 4,327,542/patient/year). Our study highlighted the higher cost of treatment and lower quality of life for hemophiliaes with Factor VII inhibitors.
Adult↗
[Anesthetic management of a patient with a right kidney tumor associated with complete occlusion of the inferior vena cava by tumor embolism].
We gave anesthesia to a patient with a right kidney tumor associated with complete occlusion of the inferior vena cava (IVC) by tumor embolism. The upper end of the tumor embolism was below the junction of the IVC and the hepatic vein, and the operation was considered possible by simply clamping the IVC. To prevent complications including pulmonary embolism, the circulatory change at the time of clamping of the IVC, and massive bleeding, monitoring was made by pulmonary artery catheter and transesophageal echocardiography, and extracorporeal circulation was prepared. The blood pressure was stable and massive bleeding did not occur at the time of clamping of the IVC, because the IVC was completely occluded. The monitor showed no signs of pulmonary embolism. In a case of kidney tumor with tumor embolism in the IVC, it is necessary to be fully prepared for pulmonary embolism, the change of blood pressure before and after clamping of the IVC and for the bleeding at the time of IVC excision.
Aged↗
Sympathetic reinnervation demonstrated on serial iodine-123-metaiodobenzylguanidine SPECT images after cardiac transplantation.
The transplanted heart is without autonomic nervous control in the early postsurgical period. We present here a case of cardiac transplantation in which 123I-metaiodobenzylguanidine (MIBG) SPECT and an exercise-loading test were used to monitor the sympathetic reinnervation. The distribution of myocardial 123I-MIBG uptake extended with time from 1 to 2 yr after surgery. However, functional improvement, estimated by the heart rate response to exercise, was not discernable during this period. The findings in this case suggest the feasibility of 123I-MIBG SPECT imaging in the serial monitoring of sympathetic reinnervation after transplantation and that scintigraphic evidence of reinnervation precedes functional recovery.
3-Iodobenzylguanidine↗
Another critical region for deletion of 22q11: a study of 100 patients.
Deletions at 22q11.1-q11.2 present with variable manifestations usually referred to as DiGeorge or velo-cardio-facial syndrome. We previously reported that deletions observed in patients with the syndrome can be subgrouped into three types (common large deletion, proximal deletion, and distal deletion) and demonstrated the presence of a second critical region for the syndrome. In order to characterize further the second critical region, a 22q11 deletion map was constructed from the data of 100 patients, using 12 DNA markers scattered in the common large deletion, and then a phenotype-genotype correlation was analyzed. The second critical region was found to correspond to the distal deletion encompassing the HCF2, cHKAD26, and D22S935 loci, and the proximal and distal deletions do not overlap each other. Although it seems that this condition is a contiguous gene syndrome, the phenotype of patients with these two types of deletion was indistinguishable from that of patients with the common large deletion. Thus, it is plausible that several genes located in the two segments corresponding to the two deleted regions are involved in the same developmental pathway or in an extremely long-range position effect.
Chromosome Deletion↗
Plasma levels of adrenomedullin in primary and secondary pulmonary hypertension in patients <20 years of age.
To elucidate the pathophysiologic significance of adrenomedullin in pulmonary hypertension, we measured plasma adrenomedullin-like immunoreactivity (AM-LI) concentrations in blood samples obtained from various sites during cardiac catheterization by using radioimmunoassay in patients with pulmonary hypertension in comparison with patients without pulmonary hypertension. In patients with pulmonary hypertension, plasma AM-LI concentrations were significantly elevated and there was a significant uptake of AM-LI in pulmonary circulation, indicating the involvement of adrenomedullin in the cardiovascular regulation of pulmonary circulation in pulmonary hypertension.
Adolescent↗
[Giant hepatic cyst successfully treated with injection of a small amount of minocycline chloride: study of 3 cases].
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Aged↗
Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder.
We describe here the molecular basis of an isolated hereditary giant platelet disorder (GPD) which is not accompanied with thrombocytopenia or leukocyte inclusion. Platelet aggregation with ristocetin and botrocetin was almost normal in this patient. Flow cytometric analysis showed that the glycoprotein (GP) Ib/IX complex was expressed on the platelet membranes at decreased levels. The amount of platelet GPIb alpha and the plasma glycocalicin concentration, the water-soluble extracellular portion of GPIb alpha, were also decreased. The anti-GPIb alpha antibody coprecipitated GPIb beta and GPIX, although the ratios of these polypeptides to GPIb alpha was greatly decreased compared with the ratio in normal platelets. Immunoblot analysis under nonreduced conditions showed that most of the GPIb alpha in the patient's platelets was not disulfide linked with GPIb beta. DNA sequencing analysis showed compound heterozygosity for two independent single nucleotide substitutions: from Tyr (TAC) to Cys (TGC) at residue 88, and from Ala (GCC) to Pro (CCC) at residue 108 in her GPIb beta gene. These substitutions were not found in genomic DNA samples from 108 normal individuals. These mutations might result in decreased expression of the GPIb/IX complex and may influence the association of the complex with the membrane skeleton, consequently impairing normal platelet morphology. Furthermore, the phenotype caused by mutations in the subunits of the GPIb/IX complex could span the spectrum from a normal phenotype, to isolated GPD, to a full-blown bleeding disorder, such as Bernard-Soulier syndrome.
Adult↗
Ischemic tolerance phenomenon from an approach of energy metabolism and the mitochondrial enzyme activity of pyruvate dehydrogenase in gerbils.
The objective of this study was to determine if the pretreatment with a sublethal ischemic insult, which has been shown to protect against delayed neuronal death, effects the recovery of energy metabolites or alters the activity of pyruvate dehydrogenase (PDH) following transient cerebral ischemia. Gerbils were pretreated with a sublethal ischemic insult, 2 min of bilateral common carotid artery occlusion, and 24 h later given a 5-min lethal ischemic insult. Animals were reperfused for 0, 10, or 60 min, or 1, 3 or 7 days. Brain metabolites, ATP, PCr, and lactate, and PDH activity were measured in the cortex and the hippocampal CA1 region. The pretreatment had no effect on ATP and PCr depletion or on lactate accumulation after the 5-min insult, nor on their recovery up to 1 day reperfusion, although there was a difference in the lactate levels of the non-pretreated and the pretreated gerbils after 10 min reperfusion. The pretreatment also had no effect on PDH activity during ischemia and reperfusion in either region. However, at 3 days reperfusion the non-pretreated animals exhibited a secondary decrease in ATP levels in the hippocampus. At 7 days reperfusion, ATP levels in the hippocampus of both the pretreated animals and the non-pretreated animals were significantly decreased compared to controls. Additionally, the level of ATP in the non-pretreated group was significantly lower than that in the pretreated group. The pretreatment with a sublethal ischemic insult did not effect the initial recovery of metabolites or the activity of PDH following transient cerebral ischemia. However, it protected against the secondary decrease of ATP levels in the hippocampus. Thus, the induction of ischemic tolerance is not caused by a reduction in metabolic impairment during the secondary insult.
Adenosine Triphosphate↗
Cardiorespiratory responses to exercise after repair of the univentricular heart.
The purpose of this study is to evaluate cardiorespiratory responses to exercise in patients with univentricular heart according to the type of repair used. Forty-three patients with univentricular heart were divided into three groups: 15 preoperative patients (group A), 18 who had Fontan repair (group B) and 10 who had ventricular septation (group C). Group C was further divided into two subgroups, 7 with normal atrioventricular valve function (group C1) and 3 with atrioventricular valve regurgitation (group C2). Cardiorespiratory variables were determined after performance of cardiopulmonary exercise testing. One-hundred-and-twenty-five healthy subjects, age 5-26 years, served as controls. Oxygen uptake in group C1 at both ventilatory threshold and peak exercise was highest in all groups of univentricular heart (P < 0.05), while peak oxygen uptake in group C1 was significantly lower vs controls (P < 0.001), and that in group B was significantly higher than that for group A. Although chronotropic incompetence was noted in all groups of univentricular heart, marked improvements in both the relationship between heart rate and oxygen uptake and in the ventilatory efficiency were observed after definitive repair. While ventilatory efficiency was still impaired in group B, there was no significant difference between that in group C1 and the control group. When patients with univentricular heart of the left ventricular type (Van Praagh's type A single ventricle) were analyzed separately, superior cardiorespiratory response after ventricular septation was also found. In view of these findings, the ventricular septation procedure is preferred to the Fontan method in patients with univentricular heart when morphological conditions are suitable for this procedure so as not to make residual complications, such as significant atrioventricular valve regurgitation.
Adolescent↗
An identification of the HLA-F null allele in Japanese.
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Amino Acid Sequence↗
A procedure for the detection of free thiol-containing proteins on a polyvinylidene difluoride membrane.
Bovine serum albumin (BSA), which has a free thiol, was blotted onto a polyvinylidene difluoride membrane. The membrane was reacted with a sulfhydryl-reactive (maleimide-containing) biotin derivative, 1-biotinamido-4-[4'-(maleimidomethyl) cyclohexanecarboxamido] butane (Biotin-BMCC), and then probed. BSA on membranes was detected semi-quantitatively at 50 ng of protein (0.76 pmol of free thiol) and among range of higher extent. BSA on membranes was less efficiently biotinylated compared with biotinylation in solution. Regardless, these results suggested that sulfhydryl-containing proteins were specifically and semi-quantitatively identified by membrane biotinylation with Biotin-BMCC.
Adsorption↗
Interaction of von Willebrand factor with the extracellular matrix and glycocalicin under static conditions.
The binding of human von Willebrand factor (vWF) to a variety of extracellular matrix components immobilized on plates and the binding of vWF to platelet glycoprotein Ib (GPIb) after interacting with these matrix components were examined by means of an enzyme-linked immunosorbent assay. vWF preferably bound to type III collagen, whereas it did not significantly bind to type I, IV, V, or VI collagen, fibronectin, laminin, elastin, or proteoglycans. Soluble type III collagen did not bind to vWF coated on plates and showed a little effect on the vWF binding to the immobilized collagen, suggesting that solid-phase collagen is important for the interaction with vWF. When glycocalicin, the N-terminal carbohydrate-rich extracellular domain of GPIb alpha exhibiting the vWF-binding activity, was added to vWF bound to collagen type III, no significant binding of glycocalicin was observed, but it bound to vWF in the presence of botrocetin, a vWF modulator protein isolated from Bothrops jararaca snake venom. These results indicate that vWF immobilized on collagen can interact with GPIb but that binding of vWF to the collagen matrix alone is insufficient for modulating vWF so that it interacts with GPIb under static conditions. Another unknown physiological modulator functionally mimicking botrocetin or high-shear stress may be involved in the platelet adhesion to extracellular matrix in the early stage of hemostasis.
Antibodies, Monoclonal↗
De novo mutation of the platelet glycoprotein Ib alpha gene in a patient with pseudo-von Willebrand disease.
Pseudo (or platelet-type)- von Willebrand disease (vWD) is a very rare autosomal dominant bleeding disorder caused by an abnormal hyper-responsiveness of the platelet membrane glycoprotein (GP) Ib/IX complex, the receptor for von Willebrand factor. We found a heterozygous missense mutation in the GPIb alpha gene in a sporadic case with pseudo-vWD: Met (ATG) to Val (GTG) at residue 239. The mutation was not detected in either parent. Investigation of three variable number of tandem repeat loci, D1S80 (MCT118), vWA and D17S5 (YNZ22), confirmed paternity and the de novo origin of the mutation. Furthermore, we have shown by the TaqI polymorphism analysis, which is located downstream of the GPIb alpha gene, that the mutation occurred in the maternal allele. This is the first description of de novo mutation occurred in pseudo-vWD and/or platelet GPIb alpha gene.
Adult↗