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Biomedical subjects

E Naito

Publications and source records attributed to E Naito.

At least 55 records · Page 3Linked to original sources
PubMed1997

Serum leptin concentration in cord blood: relationship to birth weight and gender.

To investigate the effect of leptin on fetal growth, serum leptin concentrations in venous cord blood were measured in 82 newborns (male = 43, female = 39, gestational age 36-42 weeks, birth weight 2,306-4,128 g). Serum leptin concentrations in cord blood ranged from 2.0 to 84.5 ng/mL (mean 19.9 +/- 17.4 ng/mL). Serum leptin concentrations in males (mean 15.3 +/- 15.6 ng/mL, range 2.0 to 79.3 ng/mL) were significantly (P = 0.011) lower than those in females (mean 25.0 +/- 18.0 ng/mL, range 2.1 to 84.5 ng/mL). Serum leptin concentrations in cord blood were positively correlated with birth weight (r = 0.555, P <0.0001), birth weight SD (r = 0.540, P <0.0001), Kaup index (r = 0.505, P <0.0001) and body weight/body height (r = 0.560, P <0.0001). The serum concentrations of estradiol and testosterone did not differ between males and females and did not correlate with the leptin concentration. It is unlikely that the gender difference in fetal leptin levels is due either to body fat content or distribution or to reproductive hormone status, but may be attributed to genetic differences between males and females.

Birth Weight↗
PubMed1997

Evidence for psychological refractory effect in motor inhibition for a dual-response Go/No-Go task.

Human subjects exhibit difficulty in initiating two independent, discrete responses in close succession, a difficulty known as the 'psychological refractory effect.' It is not yet known whether motor-inhibition processes are under the influence of this effect, as are motor-execution processes. This study examined the temporal changes of subjects' reaction times, interpreted in terms of motor programming for inhibition, in a dual-response Go/No-Go task that required two independent responses in close succession. Eight subjects performed the task with both a shorter (400 msec.) and a longer interstimulus interval (800 msec.). The mean reaction time for the second stimulus (RT2) in the Go response of the 400-msec. condition was significantly longer than that of the 800-msec. condition. For committed error responses during the No-Go trials, the mean RT2 in the 400-msec. condition was longer than that in the 800-msec. condition. The total number of these errors in the 400-msec. condition was significantly greater than that in the 800-msec. condition. These results suggested that both the motor-execution processes and motor-inhibition processes were influenced by the psychological refractory effect.

Humans↗
PubMed1997

Application of parasagittal surface coil MRI to otoneurological diagnosis.

Parasagittal surface coil magnetic resonance imaging (MRI) of the internal auditory canal and the inner ear was performed in patients with otoneurological diseases. T2-weighted fast spin-echo sequences, plain and enhanced T1-weighted sequences were used to examine the inner ear and the individual nerves in the internal auditory canal. Normal parasagittal images of the inner ear and the internal auditory canal and 4 patients with otoneurological disorders are presented. Precise location of the acoustic tumor was visualized and postoperative status of the internal auditory canal and the inner ear was assessed by the present method. The cochlear nerve was not identified in a patient with long-standing unilateral deafness. A follow-up study with MRI was performed in a patient with Meniere's disease who underwent endolymphatic-mastoid shunt surgery, showing gradual postoperative shrinkage of the shunted endolymphatic sac. The present method provides a new approach to the assessment of otoneurological disorders.

Adolescent↗
PubMed1997

Usefulness of magnetic resonance imaging in diagnosing vertebro-basilar insufficiency.

To estimate the usefulness of magnetic resonance imaging (MRI) in diagnosing vertebro-basilar insufficiency (VBI), 41 VBI patients with vertigo or dizziness and 26 subjects without vertigo or dizziness (as control) were examined by MRI. Sixty-eight percent of the VBI group and 12% of the control group showed a large difference between the right and the left vertebral artery diameter, the incidence being significantly higher in the VBI group. Thirty-nine percent of the VBI group and 12% of the control group had lacunar infarction in the brain stem, of which the incidence was significantly higher in the VBI group, MRI can be recommended to diagnose VBI providing information on both blood vessel disorder and ischemic changes in the brain.

Aged↗
PubMed1997

Two siblings with vitamin B6-nonresponsive cystathionine beta-synthase deficiency and differing blood methionine levels during the neonatal period.

We present two siblings with vitamin B6-nonresponsive homocystinuria due to a deficiency of cystathionine beta-synthase who had different levels of methionine in the blood during the neonatal period, even though they had the same genetic defect. One of them was missed in the screening of newborns for homocystinuria. Special care should be taken in screening neonates for homocystinuria using the blood level of methionine.

Child↗
PubMed1996

Stable restoration of pyruvate dehydrogenase complex in E1-defective human lymphoblastoid cells: evidence that three C-terminal amino acids of E1 alpha are essential for the structural integrity of heterotetrameric E1.

In an attempt to restore pyruvate dehydrogenase complex (PDHC), expression vectors carrying wildtype E1 alpha cDNA (pRAWT) or 1162ins-mutant (pRA1162) were introduced into human lymphoblastoid cells which had a 4-bp insertion after nucleotide 1162 (1162ins) of E1 alpha cDNA, 28% of normal PDHC activity, and undetectable levels of both E1 alpha and E1 beta proteins. The amount of E1 alpha mRNA transcribed from the introduced cDNA was approximately 25 times greater than that transcribed from the endogenous gene. The PDHC activity of pRAWT-transformed cells increased to the normal level whereas this activity increased to 55% of the control in pRA1162-transformed cells. Mitochondria from pRAWT-transformed cells contained normal amounts of both the E1 alpha and the E1 beta subunits. These results suggest that the three C-terminal amino acids of E1 alpha, which were absent from 1162ins-mutant protein, may be important for the structural integrity of E1 and that a large amount of normal subunit, compared to the endogenous mutant enzyme, must be expressed to restore a multienzyme complex.

Cell Line↗
PubMed1996

Changes in rCBF during grasping in humans examined by PET.

To identify the functional fields involved in grasping for objects, we measured regional cerebral blood flow (rCBF) by positron emission tomography (PET) in eight normal volunteers. In the reaching and grasping tasks, the subjects were asked to touch or grasp one of five cylinders with their finger(s). Compared with reaching, grasping specifically increased the rCBF in the fields located in the bilateral premotor area (PMA), the posterior parietal area (PPA) and the prefrontal area (PFA). These results indicate that PMA, PPA and PFA might be key structures for the performance of grasping movements.

Adult↗
PubMed1996

Movement-related potentials associated with motor inhibition under different preparatory states during performance of two visual stop signal paradigms in humans.

The motor-inhibition process was examined in humans by monitoring reaction times (RTs), electromyograms (EMGs), and movement-related potentials. Eight subjects performed two types of visual stop signal paradigm, one with ongoing motor activity and the other without background motor activity. NO-GO-specific negative potentials were consistently recorded from subjects with constant onset and duration relative to the onset of the NO-GO stimulus in both tasks and the spatial distribution of amplitudes was also invariant between the tasks. Sustained background muscle activity was not influenced by the inhibitory command. The constant features of NO-GO-specific potentials during performance of both tasks imply that temporally and spatially similar inhibition processes might specifically suppress the execution of a new motor process without any significant effect on the ongoing motor programme, regardless of differences in preparatory states.

Adult↗
PubMed1996

Elevated cerebrospinal fluid lactate/pyruvate ratio in Machado-Joseph disease.

To identify the metabolic alterations related to mitochondrial functions in Machado-Joseph disease (MJD), we analyzed the cerebrospinal fluid (CSF) levels of lactate, pyruvate, and citric acid cycle intermediates by high performance liquid chromatography (HPLC) in 7 Japanese patients with that disease and then measured some mitochondrial enzymes. Their mean age was 46 years. Diseased controls were matched by age to the patients studied. The CSF level of lactate was significantly elevated, pyruvate was significantly decreased, and the lactate/pyruvate (L/P) ratio was significantly elevated in the patients with MJD. There were no significant differences of citric acid cycle intermediates of the CSF between the patients and the controls. We measured the native and dichloroacetate (DCA)-activated pyruvate dehydrogenase complex (PDHC) activities, and mitochondrial electron transport activities in 3 patients with MJD, and found these activities to be normal. Therefore, the increased CSF lactate, increased lactate/pyruvate ratio, and decreased pyruvate may reflect the decreased regional cerebral blood flow rather than metabolic derangement of the mitochondria.

Adult↗
PubMed1996

[Defects of pyruvate metabolism in cultured lymphoblastoid cells of 20 patients with Leigh syndrome].

Lymphoblastoid cells are useful materials for the diagnosis and basic studies of many human genetic disorders. To elucidate the etiology of Leigh syndrome, biochemical analyses and mitochondrial DNA analyses were performed on cultured lymphoblastoid cells from 20 patients with the clinical characteristics of this disorder. In 9 of 20 cases, we were able to define the following defects. Eight patients had biochemical defects, including 3 with pyruvate dehydrogenase complex (PDHC), 3 with cytochrome c oxidase (complex IV), and 2 with NADH-cytochrome c reductase (complex I) deficiencies. Two of 3 patients with PDHC deficiency were diagnosed with thiamine-responsive PDHC deficiency. One patient had a point mutation (T-->G) of mitochondrial DNA at nucleotide position 8993. These results indicate that the underlying defects in Leigh syndrome are heterogeneous and cultured lymphoblastoid cells are very useful materials for diagnosis of the etiology of Leigh syndrome.

Biomarkers↗
PubMed1995

DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia.

The diagnosis of pyruvate dehydrogenase (PDH) E1 alpha deficiency, which is an X-linked inborn error of metabolism, is usually established by the measurement of PDH complex activity in cultured cells. However, heterozygous female patients with PDH E1 alpha deficiency may be misdiagnosed when the normal X chromosome is predominantly expressed in the cultured cells. Therefore, in female patients with convincing clinical presentations of PDH E1 alpha deficiency and the normal enzyme activity, the X-inactivation pattern should be analysed and the PDH E1 alpha gene screened for mutations. For this screening, we applied the method of single-strand conformational polymorphism (SSCP) and DNA sequencing and examined 11 female patients with congenital lactic acidaemia whose PDH complex activity was normal in cultured cells. In 2 of the 11 female patients, we found distinct pathogenic missense mutations in the PDH E1 alpha gene (G89S and G291R). Both affected patients showed a similar clinical presentation and had been diagnosed as West syndrome. In 3 of the 11 patients, we found a polymorphic base-pair substitution in exon 9 of the PDH E1 alpha gene which resulted in a changed amino acid residue (M282L). We conclude that PCR-SSCP analysis of the PDH E1 alpha gene, followed by DNA sequencing, is a useful method to screen for mutations of the PDH E1 alpha gene in female patients with congenital lactic acidaemia who have normal enzyme activities in available samples, normal ratio of lactate to pyruvate, and predominantly raised lactate concentration in cerebrospinal fluid.

Base Sequence↗
PubMed1995

Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency: detection of a new mutation and differential expression of mutant gene product in cultured cells.

A new 18 bp insertion mutation in the gene for the alpha subunit of pyruvate dehydrogenase (E1 alpha) was found in a female patient with congenital lactic acidaemia. Cultured skin fibroblasts and Epstein-Barr virus-transformed lymphoblastoid cells from this patient showed decreased and normal pyruvate dehydrogenase complex (PDHC) activity, respectively. This 18 bp insertion was a de novo mutation, because it was not present in her parents. Although this female patient was heterozygous for the normal and the mutant alleles, 97% of cultured skin fibroblasts expressed the mutant allele, while 100% of cultured lymphoblastoid cells, 94% of peripheral blood lymphocytes and 98% of IL-2-activated T-cells expressed the normal allele. These results suggest that in this patient the X chromosome containing the normal allele was predominantly inactivated in fibroblasts and the X chromosome containing the mutant allele was predominantly inactivated in lymphocytes. The diagnosis of E1 alpha deficiency is usually established by measurement of PDHC activity and the level of immunoreactive proteins. However, these methods are not sufficient to diagnose the disorder in female patients with E1 alpha deficiency due to differential inactivation of the X chromosome. Therefore, it is necessary to develop a new method to firmly establish the diagnosis of E1 alpha deficiency.

Alleles↗
PubMed1995

Effect of vestibular nerve section on cytochrome oxidase activity in the vestibular ganglion cells of the squirrel monkey.

Cytochrome oxidase (CO) activity of the vestibular ganglion cells of the squirrel monkey was demonstrated histochemically under normal and experimental conditions. Under general anesthesia, right vestibular nerve section was performed on adult squirrel monkeys between the vestibular ganglion and brain stem. The left side was left intact and was used as a within-animal normal control. One squirrel monkey that did not undergo vestibular nerve section was also included in the normal group. Following a survival period of seven months, neurons in the vestibular ganglion of both sides were examined. In the normal control sides, a significant negative correlation between the size of the neuron and its optical density for CO stain was observed. Many neurons in the vestibular ganglion survived after vestibular nerve section, but their cell sizes and optical densities of CO stain decreased compared with those of the control side.

Animals↗
PubMed1995

Surface-coil magnetic resonance imaging of the internal auditory canal and the inner ear. Preliminary report.

Parasagittal surface-coil magnetic resonance imaging of the internal auditory canal and the inner ear was performed. We used T2-weighted fast spin-echo sequences to visualize the inner ear and the individual nerves in the internal auditory canal with high contrast in a short acquisition time. Computer-assisted quantitative measurement of the nerves was performed to estimate the cross-sectional areas and the diameters of the nerves. The average diameters of the facial nerve, the cochlear nerve, and the vestibular nerve of normal-hearing individuals were, respectively, 1.1 +/- 0.2 mm (mean +/- SD), 1.2 +/- 0.2 mm, and 1.5 +/- 0.2 mm. In the cerebellopontine angle, the average diameter of the eighth nerve was 1.8 +/- 0.2 mm. Two patients with unilateral and bilateral hearing loss were also presented. In the patient with unilateral deafness, the cochlear nerve of the diseased side was not identified and the eighth cranial nerve diameter was smaller than that of the normal side. In the patient with bilateral deafness, fibrosis of the inner ear and atrophy of the eight nerve were demonstrated in the ear with posttraumatic deafness. The present method may represent a new approach to the assessment of pathologic processes involving the inner ear and the nerves in the internal auditory canal.

Adult↗
PubMed1995

Three short tandem repeat loci in Japanese population.

Allele frequencies of three short tandem repeat loci, vWF, TH and GCG, were examined for 210 unrelated Japanese individuals. Eight alleles were identified with PCR and gel electrophoresis for vWF, 7 for TH and 13 for GCG, indicating that these loci are highly polymorphic. Combined discrimination power of the 3 STRs was 0.995. These results imply that the loci are useful as probes for the identification of Japanese individuals. Thus, we applied the probes to the identification of a forensic specimen that was decomposed severely. The vWF and TH probes successfully gave clear bands in gel electrophoresis, but GCG failed to be typed because of a lot of shadow bands. The results suggests the usefulness of at least the former two probes in forensic studies.

Alleles↗
PubMed1995

[Movement-related potentials associated with motor inhibition during different types of stop signal paradigm in humans].

The motor inhibition process was examined in humans by monitoring reaction times, electromiograms, and movement-related potentials. Four subjects performed two types of visual stop signal paradigm. In one type, they were required to push a button (GO) or not to push it (NOGO), in another type, to release the button (GO) or to keep pushing it (NOGO). The results were summarized as follows; (1) The EEG waveform pattern was remarkably consistent among subjects. NO-GO-specific negative-positive potentials were observed under both tasks without significant background EMG activity changes in agonist and antagonist muscles. (2) The timing of the onset and the peak latency of the negative potential relative to the second stimulus, S 2, were constant (about 180-200 ms and 230-250 ms for each) in both tasks. The time interval between the initial onset of the negative potential and its peak latency was also constant (about 50 ms) in both tasks. The amplitude of the negative potentials was maximum at FCz (supposed to be around supplementary motor area) and their distribution was invariant among tasks. Constant features of NO-GO-specific potentials during both task performance suggested the temporally and spatially same inhibition process might specifically suppress the new motor program regardless of the existence of ongoing motor program.

Action Potentials↗