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Biomedical subjects

K Terada

Publications and source records attributed to K Terada.

At least 73 records · Page 4Linked to original sources

[Genetic analysis of two patients with adenosine deaminase (ADA)-deficiency: detection of three novel mutations and characterization of two paradoxical carriers].

Genetic basis of two patients (AT, MT) with ADA deficiency was studied. We identified three novel mutations (119 Q-->Stop, 235 R-->Q, one base deletion in Exon 4) from the patients. 119 Q-->Stop was detected in AT and her father. Deletion of one base in Exon 4 which would change the reading frame after codon 105 H, was detected in MT, her father and brother. There was no relation between the two families, however, 235 R-->Q was also detected in both the patients and their mothers. Extremely low ADA activity of PBMCs was revealed in healthy MT's mother and brother just as MT, although their dAXP levels of RBCs showed significantly lower than that of MT. We defined that they shared an additional mutation (310 M-->T) together with the mutation described above, respectively. EBV-transformed B-cell line (EBV-B) were established from the carriers. To our surprise, ADA activity of their lines was 1/10-1/5 of normal. The result of heat treatment studies using the EBV-B showed that the mutant ADA rapidly lose its enzyme activity without degradation of the protein. It suggests that 310 M-->T mutant ADA rapidly lost its enzyme activity due to conformational change of the catalytic site of ADA.

Adenosine Deaminase↗

[mRNA detection of beta-myosin heavy chain gene in the autopsy cases of hypertrophic cardiomyopathy].

A known trigger of sudden cardiac death, hypertrophic cardiomyopathy (HCM) is associated with a point mutation in or overexpression of MYH7, which encodes the sarcomere protein beta-myosin heavy chain. We used nested RT-PCR to detect MYH7 mRNA in left ventricular myocardial tissue. We extracted total RNA from tissue samples that had been obtained after autopsy of 8 people who had died from HCM-related sudden death and that had been fixed in 10% formalin solution for as long as 4 years. The abundance of total RNA extracted from the 100 mg samples of cardiac muscle ranged from 10 to 24 mg/ml. The products of the nested RT-PCR were electrophoresed on a denaturing 8% polyacrylamide gel, and the MYH7 mRNA product was detected as a 424 bp band. MYH7 mRNA was easier to detect in tissue that had been fixed for shorter rather than longer periods. In addition, the greater the cardiac weight, the higher was the yield of the MYH7 mRNA product. Although mRNA had been detected by using RT-PCR on formalin-fixed paraffin-embedded tissue, no one previously had identified by using RT-PCR or nested RT-PCR on formalin-fixed tissue. By using nested RT-PCR, we were able to detect MYH7 mRNA in myocardial tissue that had been fixed in formalin solution for 4 years. Our results are applicable to retrospective examination into the cause of death in cases of sudden cardiac failure.

Adult↗

Biliary excretion of copper in LEC rat after introduction of copper transporting P-type ATPase, ATP7B.

Wilson's disease, an autosomal recessive disorder, is characterized by the excessive accumulation of hepatic copper that results from reduced biliary copper excretion and disturbed incorporation of copper into ceruloplasmin. The ATP7B gene, responsible for the disease, encodes a copper transporting P-type ATPase. We previously demonstrated the involvement of ATP7B in hepatic copper secretion into plasma after the introduction of ATP7B into the Long-Evans Cinnamon (LEC) rat, a rodent model of Wilson's disease. In this study we found the increased copper contents of the hepatic lysosomal fractions and bile in the LEC rats after ATP7B introduction, indicating the participation of ATP7B in the biliary excretory pathway for copper.

Adenosine Triphosphatases↗

Three-dimensional structure of phosphoenolpyruvate carboxylase: a proposed mechanism for allosteric inhibition.

The crystal structure of phosphoenolpyruvate carboxylase (PEPC; EC 4. 1.1.31) has been determined by x-ray diffraction methods at 2.8-A resolution by using Escherichia coli PEPC complexed with L-aspartate, an allosteric inhibitor of all known PEPCs. The four subunits are arranged in a "dimer-of-dimers" form with respect to subunit contact, resulting in an overall square arrangement. The contents of alpha-helices and beta-strands are 65% and 5%, respectively. All of the eight beta-strands, which are widely dispersed in the primary structure, participate in the formation of a single beta-barrel. Replacement of a conserved Arg residue (Arg-438) in this linkage with Cys increased the tendency of the enzyme to dissociate into dimers. The location of the catalytic site is likely to be near the C-terminal side of the beta-barrel. The binding site for L-aspartate is located about 20 A away from the catalytic site, and four residues (Lys-773, Arg-832, Arg-587, and Asn-881) are involved in effector binding. The participation of Arg-587 is unexpected, because it is known to be catalytically essential. Because this residue is in a highly conserved glycine-rich loop, which is characteristic of PEPC, L-aspartate seemingly causes inhibition by removing this glycine-rich loop from the catalytic site. There is another mobile loop from Lys-702 to Gly-708 that is missing in the crystal structure. The importance of this loop in catalytic activity was also shown. Thus, the crystal-structure determination of PEPC revealed two mobile loops bearing the enzymatic functions and accompanying allosteric inhibition by L-aspartate.

Allosteric Regulation↗

Lymphangioma presenting as a dumbbell tumor in the epidural space of the lumbar spine.

STUDY DESIGN: A case report. OBJECTIVES: To report and discuss a case of lymphangioma presenting as a dumbbell-shaped tumor in the epidural space of the lumbar spine. SUMMARY OF BACKGROUND DATA: Dumbbell tumor of the spine is not uncommon. Although the pathogenesis of such tumors varies widely, lymphangioma has not been reported previously, to these authors' knowledge. METHODS: A 56-year-old woman with pain in the lower back and left leg was examined by plain radiographs and magnetic resonance imaging before surgery. Treatment consisted of the usual technique of surgical resection of the tumor. Histopathologic study of the resected material confirmed the diagnosis. Postoperative follow-up assessment was performed by magnetic resonance imaging. RESULTS: Magnetic resonance imaging demonstrated a dumbbell tumor in the epidural canal area of the lumbar spine. Histopathologic diagnosis of the resected tumor was cavernous lymphangioma. CONCLUSION: To the authors' knowledge, this is the first reported case of lymphangioma presenting as a spinal dumbbell tumor. Further observation is recommended because of the possibility of local recurrence.

Diagnosis, Differential↗

Assessment of subchondral bone blood flow in the rabbit femoral condyle using the laser speckle method.

The laser speckle method is a new form of flowmetry that can obtain a two-dimensional distribution of blood flow in tissue. This method is a noncontact, simple, and rapid technique that may aid in the diagnosis of osteonecrosis. We investigated whether the subchondral bone blood flow within the femoral condyles of rabbits could be measured by the laser speckle method. The hydrogen washout method was chosen as a comparison technique because of its ability to allow repetitive measurements of blood flow in various conditions in one rabbit and because of its reliability, which already has been established. We simultaneously measured the bone blood flow in 20 femoral condyles of 10 rabbits with the laser speckle and hydrogen washout methods and found a significant correlation between the blood flow levels with use of these two methods. For the clinical application of the laser speckle method, we also investigated the influence of cartilage thickness on the measurements and the depth in the bone to which blood flow could be measured with this method. A cartilage thickness of 0.2 mm did not influence the measurement of the bone blood flow, and the depth in the bone to which the laser speckle method could be used was approximately 2 mm.

Animals↗

Pseudomyxoma retroperitonei.

We report a rare case of pseudomyxoma retroperitonei in a 58-year-old woman with a past history of severe appendicitis. The imaging showed a multicystic mass similar to pseudomyxoma peritonei, but the tumor was located in the retroperitoneal space.

Diagnosis, Differential↗

Movement-related cortical potentials associated with voluntary relaxation of foot muscles.

OBJECTIVE: In our previous study of movement-related cortical potential (MRCP) in association with the voluntary relaxation of the hand muscle, Bereitschaftspotential (BP) was maximal at the vertex and symmetrically distributed, and Negative Slope (NS') was maximal over the contralateral central region. In order to clarify the generator sources of MRCP with voluntary muscle relaxation, we recorded MRCP in association with voluntary relaxation of the foot. METHODS: MRCP in association with plantar flexion of the foot caused by voluntary relaxation of the tibialis anterior muscle was recorded in 10 normal subjects. RESULTS: The BP started at about 1.7 s before the onset of the muscle relaxation, followed by NS' starting at about 650 ms before it. Both were maximal at the vertex and symmetrically distributed. There was no additional EEG activity in the lateral frontal areas, which are presumably located over the primary negative motor areas (PNMA). CONCLUSIONS: It is concluded that the voluntary muscle relaxation, similarly to the voluntary muscle contraction, involves the cortical preparatory activity at least in the primary motor area (M1) and probably the supplementary motor areas (SMAs). There is no evidence to suggest that the PNMA is also active prior to the voluntary muscle relaxation.

Adult↗

The Long-Evans Cinnamon rat: an animal model for Wilson's disease.

The Long-Evans Cinnamon (LEC) rat is known to develop hepatitis and liver cancer spontaneously, phenomena attributed to abnormal copper metabolism. This mutant strain of rat shows some clinical features that are similar to those of Wilson's disease, including excessive copper in the liver, reduced excretion of copper into bile, a reduced level of serum copper and a remarkable decrease in serum ceruloplasmin activity. Molecular studies have revealed that the copper transporting P-type ATPase, atp7b, which is the rat gene homologous to human ATP7B, was found to be defective in the LEC rat. These observations have confirmed that the LEC rat is a rodent model for Wilson's disease. In addition, recent studies have suggested that the ATP7B protein is involved in the intracellular transport of hepatic copper. The absence or diminution of ATP7B function results in abnormal copper metabolism in the LEC rat and in patients with Wilson's disease.

Adenosine Triphosphatases↗

Focal ictal direct current shifts in human epilepsy as studied by subdural and scalp recording.

In order to clarify further the characteristics of ictal direct current (DC) shifts in human epilepsy, we investigated them by subdural and scalp recording in six and three patients, respectively, both having mainly neocortical lobe epilepsy (five with frontal lobe epilepsy, two with parietal lobe epilepsy and two with temporal lobe epilepsy). By using subdural electrodes made of platinum, ictal DC shifts were observed in 85% of all the recorded seizures (89 seizures) among the six patients, and they were localized to just one or two electrodes at which the conventional initial ictal EEG change was also observed. They were closely accompanied by the electrodecremental pattern in all patients except for one in whom 1 Hz rhythmic activity was superimposed on clear negative slow shifts. Seizure control after resection of the cortex, including the area showing DC shifts, was favourable irrespective of histological diagnosis. Scalp-recorded ictal slow shifts were observed in 23% of all the recorded seizures (60 seizures) among the three patients. They were, like the subdurally recorded ones, mainly surface-negative in polarity, closely related to the electrodecremental pattern and consistent in their location. It seems that scalp-recorded DC shifts were detected particularly when seizures were clinically intense, while no slow shifts were observed in small seizures. It is concluded that at least subdurally recorded ictal slow shifts are clinically useful before epilepsy surgery to delineate more specifically an epileptogenic area as well as to further confirm the conventional initial ictal EEG change, and that scalp-recorded ictal slow shifts also have high specificity although their low sensitivity is to be taken into account.

Adolescent↗

Cognitive motor control in human pre-supplementary motor area studied by subdural recording of discrimination/selection-related potentials.

To clarify the functional role of human pre-supplementary motor area (pre-SMA) in 'cognitive' motor control as compared with other non-primary motor cortices (SMA-proper and lateral premotor areas) and prefrontal area, we recorded epicortical field potentials by using subdural electrodes in five epileptic patients during presurgical evaluation, whose pre-SMA, SMA-proper, prefrontal and lateral premotor areas were defined by electric cortical stimulation and recent anatomical orientations according to the bicommissural plane and callosal grid system. An S1-Go/NoGo choice and delayed reaction task (S1-choice paradigm) and a warned choice Go/NoGo reaction task (S2-choice paradigm) with inter-stimulus intervals of 2 s were employed. The results showed (i) transient potentials with onset and peak latencies of about 200 and 600 ms, respectively, after S1 in the S1-choice paradigm mainly at pre-SMA and to a lesser degree at the prefrontal and lateral premotor areas, but not in the S2-choice paradigm. At SMA-proper, a similar but much smaller potential was seen after S1 in both S1- and S2-choice paradigms and (ii) slow sustained potentials between S1 and S2 in both S1- and S2-choice paradigms in all of the non-primary motor areas investigated (pre-SMA, SMA-proper and lateral premotor areas) and prefrontal area. It is concluded that pre-SMA plays a more important role in cognitive motor control which involves sensory discrimination and decision making or motor selection for the action after stimuli, whereas SMA-proper is one of the main generators of Bereitschaftspotential preceding self-paced, voluntary movements. In the more general anticipation of and attention to the forthcoming stimuli, non-primary motor cortices including pre-SMA, SMA-proper and lateral premotor area, and the prefrontal area are commonly involved.

Adult↗

Abnormal cortical processing of voluntary muscle relaxation in patients with focal hand dystonia studied by movement-related potentials.

In order to clarify the abnormality in cortical motor preparation for voluntary muscle relaxation of the hand in patients with focal hand dystonia, Bereitschaftspotentials (BPs) preceding voluntary muscle contraction and relaxation were recorded in eight patients (three with simple writer's cramp and five with dystonic writer's cramp), and were compared with those from 10 normal subjects. Voluntary muscle relaxation: after keeping the right wrist in an extended position for > 5 s, the subject let the hand drop by voluntarily terminating muscle contraction of the wrist extensor without any associated muscle contraction. Voluntary muscle contraction: the right wrist was flexed by voluntarily contracting the wrist flexor muscle. Scalp EEGs were recorded from 11 electrodes placed over the frontal, central and parietal areas. In the control group, the BP measured at the movement onset was maximal at the left central area (C1), and distributed predominantly over the left hemisphere equally in both the contraction and relaxation tasks. In the focal hand dystonia group, BP was maximal at C1 in the contraction task, whereas, in the relaxation task, it was maximal at the midline central area (Cz) and symmetrically distributed. At the left central area, the BP amplitude in the focal hand dystonia group was diminished significantly in the relaxation task compared with the contraction task (P < 0.05). The present results demonstrate for the first time that the cortical preparatory process for voluntary muscle relaxation, or motor inhibition, is abnormal in focal hand dystonia.

Adult↗

Large bursa formation associated with osteochondroma of the scapula: a case report and review of the literature.

Bursitis or large bursa formation associated with osteochondroma has rarely been reported. A 33-year-old male presented with upper back pain, a rapidly developing mass beside the lateral border of his right scapula and snapping elicited by movement of the scapula. Plain radiograms and CT revealed osteochondroma on the ventral surface of the scapula without any unmineralized component and a huge cystic lesion around the osteochondroma. Aspiration of the cystic lesion showed the presence of sero-sanguineous fluid. MRI following the aspiration showed a thin cartilaginous cap with distinct outer margin and no soft tissue mass around the cap. Pathological examinations confirmed the diagnosis of osteochondroma with the large bursa formation. Clinical examination 19 months postoperatively showed an uneventful clinical course.

Adult↗

Characterization of the novel mitochondrial protein import component, Tom34, in mammalian cells.

Tom34 is a newly-found component of the mitochondrial protein import machinery in mammalian cells with no apparent counterpart in fungi. RNA blot and immunoblot analyses showed that the expression of Tom34 varies among tissues and differs from that of the core translocase component Tom20. In contrast to a previous report [Nuttal, S.D. et al. (1997) DNA Cell Biol. 16, 1067-1074], the present study using a newly-prepared anti-Tom34 antibody with a high titer showed that Tom34 is present largely in the cytosolic fraction and partly in the mitochondrial and membrane fractions after fractionation of tissues and cells, and that the membrane-associated form is largely extractable with 0.1 M sodium carbonate. The in vitro import of preproteins into isolated rat mitochondria was strongly inhibited by DeltahTom34 which lacks the NH2-terminal hydrophobic region of human Tom34 (hTom34). Import was also strongly inhibited by anti-hTom34. In pulse-chase experiments using COS-7 cells, pre-ornithine transcarbamylase (pOTC) was rapidly processed to the mature form. Coexpression of hTom34 resulted in a stimulation of pOTC processing, whereas the coexpression of hTom34 antisense RNA caused inhibition. The results confirm that Tom34 plays a role in mitochondrial protein import in mammals, and suggest it to be an ancillary component of the translocation machinery in mammalian cells.

Animals↗

[Accumulative vaccination rate of rubella and positive antibody rate in an area of Japan--future problems with rubella].

The rubella vaccination rate remarkably decreased in Japan after a revised vaccination law was passed in 1994, as a result of which individual vaccination replaced mass vaccination at each school. We investigated the rubella antibody of 887 students and the accumulative rubella vaccination rate in an area of Okayama. The vaccination rate in Ibara, where children were inoculated individually, was 22.8%. In contrast, in Yoshii, where the vaccination was done as mass at each school, the rate was 89.8%. After 2003, when the transit period of the law ends, children 12-90 months of age will be the subjects for rubella vaccine. We presume that the vaccination rate in the future will reach 40-50% through accumulative vaccination. Such a rate of vaccination cannot prevent rubella epidemics and congenital rubella syndrome. In addition, an individual's rubella vaccination is generally done once during lifetime. We doubt whether the immune response induced by a vaccine can be maintained for more than 20 years without boosting. We think that a second vaccination is necessary for at least young girls, and this should be performed as mass at each school.

Adolescent↗

[A case of Chlamydia trachomatis and Mycoplasma pneumoniae coinfection in a child].

Mycoplasma pneumoniae infection is often experienced as community-acquired pneumonia, whereas Chlamydia trachomatis pneumonia is sometimes experienced as a vertical infection from mother to child through delivery, but is rare after six months of age. We reported the first case to date of a seven-year-old boy with coinfection of C. trachomatis and M. pneumoniae. The patient, who was referred to our hospital because of suspected pneumonia, had had severe cough and pyrexia for four days before his admission. The coinfection was confirmed because the antibodies to both bacteria were significantly increased. In addition the PCR for C. trachomatis detected the presence of C. trachomatis in the throat even after treatment. The PCR from a cervix swab of his mother and from a throat swab of his father were negative, but their antibodies to C. trachomatis were positive. We think that this may have been community-acquired pneumonia or due to persistent infection after a vertical transmission.

Child↗