Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.
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Biomedical subjects
Publications and source records attributed to Y Kikuchi.
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The inhibitory action of prostaglandin D2 (PGD2) and its effect on the cell cycle were examined in cell lines SW480 and LS174T of human colon cancer. The growth of the cell lines were assessed 24 h and 48 h after the addition of 1.0 microgram/ml and 10.0 micrograms/ml PGD2. The growth of SW480 cells was inhibited 48 h, but not 24 h, after the addition of 1.0 microgram/ml, and 24 h and 48 h after the addition of 10.0 micrograms/ml, while that of LS174T was inhibited by both doses after 24 h and 48 h. S-Phase DNA synthesis in the SW480 cells was significantly blocked 24 h after the addition of 10.0 micrograms/ml PGD2. The cell cycle of LS174T cells was arrested at the G0 + G1 phase 24 h after the addition of 1.0 microgram/ml and 10.0 micrograms/ml PGD2. The correlation between hepatic metastasis and PGD2 concentration in human cancer tissue was examined. The mean value of PGD2 concentrations in the primary cancer tissue was significantly lower in the hepatic metastasis group than that in the group without hepatic metastasis. These findings suggest that measuring the PGD2 in cancer tissue may be useful for detecting and predicting the hepatic metastasis from human colorectal cancer.
In patients with diabetes mellitus, the existence of diabetic cardiomyopathy was substantiated. This study was undertaken to evaluate the myocardiac fatty acid metabolism of diabetic mice (n = 21) and controls (n = 21) in 125I-BMIPP in fasted and unfasted states. 125I-BMIPP of 370 kBq was given and thirty minutes later, animals from both groups were killed. Samples of hearts, liver and other organs were removed, weighed and then counted in a scintillation counter. The percent injected dose/g of hearts of diabetic mice was significantly reduced compared to controls in unfasted (p < 0.05) and fasted (p < 0.01) groups. These findings may reflect impaired fatty acid utilization of the hearts in diabetic mice compared to controls.
We report a rare case of Stanford type A acute aortic dissection associated with a distal aortic arch atherosclerotic aneurysm. A 71-year-old female was referred to us with the diagnosis of thrombosed Stanford type A acute aortic dissection, however on the next day transesophageal echocardiography revealed the false lumen has been recanalized. In the operation, there was a distal aortic arch atherosclerotic aneurysm which was unidentified at the preoperation. It is very rare that the dissection originated from atherosclerotic aneurysm and proceeded to proximal and distal portion of the aorta.
BACKGROUND: It is well known that carotid endarterectomy and extracranial-intracranial arterial bypass sometimes cause postoperative hyperperfusion, and vasoparalysis attributable to long-standing ischemia has been suggested as the cause. It is also well known that dural arteriovenous fistula (AVF) sometimes causes cerebral ischemia attributable to venous hypertension. However, there are few reports regarding the postoperative changes of regional cerebral blood flow (rCBF). METHODS: We report a case of dural AVF of the left transverse/sigmoid sinuses, occurring in a 64-year-old man. Intraoperative transvenous embolization combined with transarterial embolization was performed, and the rCBF was measured pre- and postoperatively using 99mTc-hexamethyl-propylene amine oxime and single-photon emission computed tomography (SPECT). RESULTS: Preoperative SPECT disclosed a marked rCBF reduction in the left temporal, parietal, and occipital lobes. Complete obliteration of the AVF was attained after the intraoperative transvenous embolization, without any neurological deterioration. However, postoperative SPECT demonstrated temporary hyperperfusion in these regions. CONCLUSIONS: Sudden resolution of venous ischemia can lead to postoperative hyperperfusion, and pre- and post-treatment rCBF studies are important to prevent complications related to hyperperfusion.
We report two cases of avulsion fractures at the fovea of the ulna. This injury is caused by a strong distraction force which avulses the insertion of the triangular ligament at the fovea of the ulna. This injury can be classed as an injury to the triangular fibrocartilage complex.
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The effects of nitric oxide on diaphragm contraction after endotoxin administration were studied in Wistar rats. The animals were divided into seven treatments: a saline-injected group as control, three groups injected with L-NAME (0.01, 0.1, 1 mg/kg) and three groups injected with L-arginine (1, 10, 100 mg/kg). Escherichia coli endotoxin was injected into the peritoneal cavity 15 min later. Twitch kinetics and force-frequency curves were measured 0, 2, and 4 hr after endotoxin injection. In the control group, the force-frequency curves significantly decreased from 0 hr to 4 hr. In the L-NAME group, the force-frequency curves at 4 hr showed significant increases in a dose-dependent manner. In the L-arginine group, the force-frequency curve with 100 mg/kg at 4 hr showed a significant increase. There was no consistent change in the contraction time, half relaxation time, or fatiguability. NADPH diaphorase histochemistry performed on diaphragm muscle samples 4 hr after endotoxin injection showed positive in the control and L-arginine group, but was only weakly observed in L-NAME group. These data suggest that nitric oxide contributes to the endotoxin induced diaphragm contractile deterioration.
1. ATP (10-100 microM), but not glutamate (100 microM), stimulated the release of plasminogen from microglia in a concentration-dependent manner during a 10 min stimulation. However, neither ATP (100 microM) nor glutamate (100 microM) stimulated the release of NO. A one hour pretreatment with BAPTA-AM (200 microM), which is metabolized in the cytosol to BAPTA (an intracellular Ca2+ chelator), completely inhibited the plasminogen release evoked by ATP (100 microM). The Ca2+ ionophore A23187 induced plasminogen release in a concentration-dependent manner (0.3 microM to 10 microM). 2. ATP induced a transient increase in the intracellular calcium concentration ([Ca2+]i) in a concentration-dependent manner which was very similar to the ATP-evoked plasminogen release, whereas glutamate (100 microM) had no effect on [Ca2+]i (70 out of 70 cells) in microglial cells. A second application of ATP (100 microM) stimulated an increase in [Ca2+]i similar to that of the first application (21 out of 21 cells). 3. The ATP-evoked increase in [Ca2+]i was totally dependent on extracellular Ca2+, 2-Methylthio ATP was active (7 out of 7 cells), but alpha,beta-methylene ATP was inactive (7 out of 7 cells) at inducing an increase in [Ca2+]i. Suramin (100 microM) was shown not to inhibit the ATP-evoked increase in [Ca2+]i (20 out of 20 cells). 2'- and 3'-O-(4-Benzoylbenzoyl)-adenosine 5'-triphosphate (BzATP), a selective agonist of P2X7 receptors, evoked a long-lasting increase in [Ca2+]i even at 1 microM, a concentration at which ATP did not evoke the increase. One hour pretreatment with adenosine 5'-triphosphate-2', 3'-dialdehyde (oxidized ATP, 100 microM), a selective antagonist of P2X7 receptors, blocked the increase in [Ca2+]i induced by ATP (10 and 100 microM). 4. These data suggest that ATP may transit information from neurones to microglia, resulting in an increase in [Ca2+]i via the ionotropic P2X7 receptor which stimulates the release of plasminogen from the microglia.
We attempted to determine what factors were common to catteries with high Bartonella henselae antibody prevalence compared with catteries with low prevalence, in order to contribute to better guidelines for the choice of a safe pet cat. The overall seroprevalence in 11 catteries from diverse geographical locations in North America in the present study was 35.8%. There was evidence of B. henselae exposure in all 11 homes tested, with 5 catteries being heavily infected. The distribution of B. henselae exposure was bimodal in catteries: either most or all cats in the home had been exposed, or very few or no cats had been exposed. Prevalence per home was also correlated with the home mean antibody titre. Flea infestation was the most important risk factor for high B. henselae seroprevalence in the catteries we surveyed. Individual cat titres were comparable for male and female cats, cats of various ages, and cats with concurrent infectious diseases. There was no association of B. henselae with cattery size, husbandry practices, presence or absence of rescued cats, dog ownership, attending cat shows, routine visits to a veterinarian, and outside travel. In summary, cattery cats can be easily identified as high or low risk to new potential cat owners.
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A large abdominal wall defect was reconstructed with the use of a flap combining the tensor fasciae latae musculocutaneous flap and the anterolateral thigh flap in four individuals who had undergone extensive abdominal wall resection because of cancer. The flap was harvested as a single combined composite flap and was transferred to the recipient site by means of microvascular surgery. Morbidity was minimal and the outcome was satisfactory in all instances.
Ginsenoside Rh2 (Rh2), isolated from an ethanol extract of the processed root of Panax ginseng CA Meyer, inhibits the growth of B16 melanoma cells. This study was designed to evaluate the ability of Rh2 to inhibit growth of human ovarian cancer cells (HRA) in vitro and in nude mouse. Rh2 inhibited proliferations of various established human ovarian cancer cell lines in a dose-dependent manner between 10 and 60 microM in vitro and induced apoptosis at around the IC50 dose. When HRA cells were inoculated s.c. into the right flank of nude mice, all mice formed a palpable tumor within 14 days. Although i.p. administration of Rh2 alone hardly inhibited the tumor growth, when Rh2 was combined with cis-diamminedichloroplatinum(II) (CDDP) the tumor growth was significantly inhibited, compared to treatment with CDDP alone. When mice were treated p.o. with Rh2 daily (but not weekly), the tumor growth was significantly (P<0.01) inhibited, compared to CDDP treatment alone. When Rh2 was combined with CDDP, the degree of tumor growth retardation was not potentiated. The survival time was significantly (P<0.05) longer than that of medium alone-treated controls or the group treated with CDDP alone. Then, we examined whether p.o. administration of Rh2 has a dose-dependent inhibitory effect on the tumor growth. I.p. and weekly administration of CDDP had more potent antitumor activity in the order of 1 mg/kg, 2 mg/kg and 4 mg/kg, whereas p.o. and daily administration of Rh, (0.4 to 1.6 mg/kg) not only had antitumor activity comparable to that of 4 mg/kg CDDP, but also resulted in a significant increase of the survival. Doses of Rh2 used in this study did not result in any adverse side-effects as confirmed by monitoring hematocrit values and body weight, unlike 4 mg/kg CDDP, which had severe side-effects. It is noteworthy that p.o. but not i.p. treatment with Rh2 resulted in induction of apoptotic cells in the tumor in addition to augmentation of the natural killer activity in spleen cells from tumor-hearing nude mice. Thus, particularly in view of the toxicity of CDDP, Rh2 alone would seem to warrant further evaluation for treatment of recurrent or refractory ovarian tumor.
We determined the effect of reduced bronchial blood flow on lung fluid flux through changes in lung lymph flow, lung wet weight-to-dry weight (wet/dry) ratios, and pulmonary microvascular reflection coefficient (sigma). In the first of two surgical procedures, Merino ewes (n = 21) were surgically prepared for chronic study. Five to seven days later, in a second operation, the bronchial artery of the injection group (n = 7) was ligated, and 4 ml of 70% ethanol were injected into the bronchial artery to cause sclerosis of the airway circulation. In the ligation group (n = 7), only the bronchial artery was ligated. In the sham group (n = 7), the bronchial artery was surgically exposed but left intact without ligation or ethanol injection. One day after these operations the animals received a tracheotomy and 48 breaths of cotton smoke. The value of sigma was determined at two points: 24 h before the second surgical procedure and 24 h after smoke inhalation. Lung lymph flow, blood-gas parameters, and hemodynamic data were measured every 4 h after injury. At the end of investigation, samples of lung were taken for determination of blood-free wet/dry ratio. In the sham group, inhalation injury induced a gradual increase in pulmonary vascular resistance and lung lymph flow, which was associated with deterioration of oxygenation. Reduction of the bronchial blood flow attenuated these pathophysiological changes, and the degree of this attenuation was greater in the injection group than in the ligation group. The value of sigma was significantly higher after smoke inhalation in the injection group compared with the sham group (0.77 +/- 0.04 vs. 0.61 +/- 0.03, means +/- SE) at 24 h. The mean wet/dry ratio value of the injection group animals was 30% less than that of the sham group. Our data show that the bronchial circulation contributes to edema formation in the lung occurring after acute lung injury with smoke inhalation.
A family with 1 case of retinitis pigmentosa (III-1) and 2 cases of Oguchi's disease (III-2, 3) was examined in terms of electrophysiology as well as molecular biology. The proband (III-3), a 42-year-old female, and 2 older brothers (III-1, 2, aged 52 and 45 years) and 2 unaffected members in the same family participated in this study. Corrected visual acuities of the individuals with Oguchi's disease (III-2, 3) were 1.2. On funduscopy, blood vessels stood out in relief against a metallic-appearing background and a Mizuo-Nakamura phenomenon was evident. Full-field electroretinograms (ERGs) recorded from the proband were indicative of rod dystrophy, but results of other electrophysiological examinations (multifocal ERG, pattern ERG and visual-evoked cortical potential recordings) were within normal limits. Patient III-1 had corrected visual acuities of RE 20 cm/m.m. and LE 30 cm/n.d., severe chorioretinal atrophy in both fundi, and full-field ERG revealed rod-cone dystrophy. Mutation of the arrestin gene (1147de1A) was detected in all 3 patients. Visual function in each patient coincides with that of retinitis pigmentosa or Oguchi's disease, respectively.
The overexpression of red sea bream (Pagrus major) transglutaminase (TGase, E.C. 2.3.2.13) in Escherichia coli mostly leads to the accumulation of biologically inactive enzyme. Although the solubility of the gene products could be improved by cultivation at a lower temperature (26-28 degrees C), most of the synthesized TGase was still in the form of insoluble aggregates. The effects of overproduction of molecular chaperones on the intracellular solubility of newly produced recombinant TGase were examined. The overexpression of dnaK or groES/EL did not improve solubility. However, DnaJ greatly increased the solubility of the recombinant TGase, resulting in active enzyme in the presence of calcium ions. Co-expression of dnaK along with dnaJ further increased the content of soluble TGase. Under our experimental conditions, supplementation with both DnaJ and DnaK elevated the TGase activity in the producer cells by roughly 4-fold, compared with the control strain cultured at 30 degrees C. Thus, we found that DnaJ is important in controlling the solubility of protein overproduced in E. coli.
The second lysine decarboxylase gene (ldc) is at 4.7 min on the Escherichia coli chromosome [Kikuchi et al., J. Baceriol. 179, 4486-4492 (1997)]. This report showes that the expression of ldc as well as cadA was induced at stationary phase in the wild type of E. coli. The ldc was not expressed in a rpoS deletion mutant of E. coli at any growing stage. In contrast, cadA was expressed in the rpoS mutant. Thus, we conclude that the expression of ldc but not cadA at stationary phase is regulated by a RpoS-dependent mechanism (s) in E. coli.
Between 1988 and 1991, 644 serum samples were collected from 480 grizzly bears (Ursus arctos horribilis) and 40 black bears (Ursus americanus) from Alaska, United States of America, and were tested for selected canine viral infections and zoonoses. Antibody prevalence in grizzly bears was 0% for parvovirus, 8.3% (40/480) for distemper, 14% (68/480) for infectious hepatitis, 16.5% (79/480) for brucellosis, 19% (93/480) for tularaemia and 47% (225/478) for trichinellosis. In black bears, prevalence ranged from 0% for distemper and parvovirus to 27.5% for trichinellosis and 32% for tularaemia. Antibody prevalence for brucellosis (2.5%) and tularaemia (32%) were identical for grizzly bears and black bears from the geographical area of interior Alaska. Links between differences in prevalence and the origin of the grizzly bears were observed. Antibodies to canine distemper virus and infectious hepatitis virus were mainly detected in grizzly bears from Kodiak Island and the Alaskan Peninsula. Brucellosis antibodies were prevalent in grizzly bears from western and northern Alaska, whereas tularaemia antibodies were detected in grizzly bears from interior Alaska and the Arctic. There was a strong gradient for antibodies to Trichinella spp. from southern to northern Alaska. For most diseases, antibody prevalence increased with age. However, for several infections, no antibodies were detected in grizzly bears aged from 0 to 2 years, in contrast to the presence of those infections in black bears. Grizzly bears served as excellent sentinels for surveillance of zoonotic infections in wildlife in Alaska.