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Biomedical subjects

E Naito

Publications and source records attributed to E Naito.

At least 19 recordsLinked to original sources
PubMed2002

Perceptual changes in illusory wrist flexion angles resulting from motor imagery of the same wrist movements.

Recent neuroimaging studies have suggested that similar cortical motor areas are recruited both by kinesthetic sensations elicited by tendon vibration and by voluntarily imaging one's own movements of the same joints. Little is known, however, as to whether kinesthetic motor imagery interacts with kinesthetic illusion. We examined such interaction by behavioral analysis in which 19 subjects imagined wrist flexion or extension, with or without illusory flexion induced by tendon vibration. Electromyograms were also recorded to monitor the peripheral modulations caused by the interaction. The kinesthetic motor imagery had a psychophysical effect on kinesthetic illusion in the absence of overt movement. It was confirmed that the subjects could imagine wrist movements without facilitating muscle activities in the absence of vibration stimuli. The electromyogram activity of the vibrated extensor muscles was significantly higher than that of non-vibrated flexor muscles. Motor imagery of wrist extension, when illusory flexion was experienced, reduced the angle of illusory flexion while enhancing extensor muscle activities in comparison with the control. On the other hand, flexion motor imagery increased the angle of illusory flexion with or without enhancement of flexor muscle activities. Our results indicate that motor imagery interacts with kinesthetic illusion with or without enhancement of activities of the related muscles. This suggests (1) that common neural substrates shared by imagery and by illusion exist and (2) that different physiological mechanisms contribute to the enhancement of muscle activities of vibrated muscles and their antagonists.

Adolescent↗
PubMed2002

Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening.

Type II citrullinaemia (CTLN2) is an adult- or late childhood-onset liver disease characterized by a liver-specific defect in argininosuccinate synthetase protein. The enzyme abnormality is caused by deficiency of the protein citrin, which is encoded by the SLC25A 13 gene. Until now, however, few cases with SLC25A13 mutations have been reported in children with liver disease. We describe an infant who presented with neonatal hepatitis in association with hypergalactosaemia detected by neonatal mass screening. DNA analysis of SLC25A13 revealed that the patient was homozygous for a IVS11+1G>A mutation. This case suggests that SLC25A13 mutant should be suspected in neonatal patients with hypergalactosaemia of unknown cause.

Citrullinemia↗
PubMed2001

Kinesthetic illusion of wrist movement activates motor-related areas.

We used positron emission tomography (PET) to test the hypothesis that illusory movement of the right wrist activates the motor-related areas that are activated by real wrist movements. We vibrated the tendons of the relaxed right wrist extensor muscles which elicits a vivid illusory palmar flexion. In a control condition, we vibrated the skin surface over the processes styloideus ulnae, which does not elicit the illusion, using the identical frequency (83 Hz). We provide evidence that kinesthetic illusory wrist movement activates the contralateral primary sensorimotor cortices, supplementary motor area (SMA) and cingulate motor area (CMA). These areas are also active when executing the limb movement.

Adult↗
PubMed2001

A novel technique for detecting single nucleotide polymorphisms by analyzing consumed allele-specific primers.

We present a simple and rapid polymerase chain reaction (PCR)-based technique, termed consumed allele-specific primer analysis (CASPA), as a new strategy for single nucleotide polymorphism (SNP) analysis. The method involves the use of labeled allele-specific primers, differing in length, with several noncomplementary nucleotides added in the 5'-terminal region. After PCR amplification, the amounts of the remaining primers not incorporated into the PCR products are determined. Thus, nucleotide substitutions are identified by measuring the consumption of primers. In this study, the CASPA method was successfully applied to ABO genotyping. In the present method, the allele-specific primer only anneals with the target polymorphic site on the DNA, so it is not necessary to analyze the PCR products. Therefore, this method is only little affected by modification of the PCR products. The CASPA method is expected to be a useful tool for typing of SNPs.

ABO Blood-Group System↗
PubMed2001

Multiplex amplified product-length polymorphism analysis for rapid detection of human mitochondrial DNA variations.

A number of mutations in coding and noncoding regions of mitochondrial DNA (mtDNA) have previously been studied. In the present study, we simultaneously typed six mutation sites in the coding region by use of amplified product-length polymorphism (APLP) analysis. The mtDNA variations of 2471 individuals from 20 populations of Japanese, Korean, Chinese, and German were examined and classified into 18 haplotypes. Two of these haplotypes, B1 (estimated ancestral haplotype) and C1, were distributed among all populations tested. However, the haplotypes A1, A2, B2, B3, and C2 were mostly restricted to the Mongoloid populations, whereas haplotypes B5 and C5 appeared almost exclusively in the German population. Phylogenetic analysis by the neighbor-joining method revealed that the Japanese populations were more closely related to each other than to the other East Asian populations surveyed. The multiplex APLP method is suitable for large-scale screening studies of mtDNA variability because it is both rapid and economical.

DNA, Mitochondrial↗
PubMed2001

A novel dimorphism in the human SRY gene: usefulness in human migration studies.

A nucleotide polymorphism of C or T was detected at position 465 in the sex-determining region Y (SRY) gene. To evaluate the utility of this dimorphism in human population studies, the frequency and the frequency of the haplotype combined with the two polymorphic loci YAP and M9 were examined in a total of 130 unrelated Japanese and 130 unrelated German males. The T nucleotide was found in 24.6% (32/130) of the Japanese but not in any of the 130 German males. Accordingly, four of the eight possible combination haplotypes of SRY/YAP/M9 were identified in the Japanese population, but one of the four haplotypes comprising SRY(T) was absent in the German samples. This suggests that the C to T transition may be more recent than the YAP insertion or the M9 transversion and the change might have occurred in an ancestral Asian population. These results imply that the dimorphism at the SRY gene is one of the Y-linked markers useful for human population studies and also for ethnic identification of forensic samples.

DNA-Binding Proteins↗
PubMed2001

Paradoxical weight loss with extra energy expenditure at brown adipose tissue in adolescent patients with Duchenne muscular dystrophy.

We examined the energy expenditure in patients with Duchenne muscular dystrophy(DMD) to evaluate the cause of the paradoxical weight loss observed in large numbers of adolescent patients before any obvious impairment of their swallowing function. In the morning, resting energy expenditure (REE)/m(2) was almost the same as that in normal controls despite a reduction in fat-free mass (FFM); thus, REE/m(2)/FFM was significantly increased in patients (median, 21.2 kcal/m(2)/FFM kg; range, 17.7 to 44.2, P =.012). A thermographic examination in the morning showed an obvious elevation of the body surface temperature on the back. This phenomenon was consistent with a paradoxical fall in the low frequency (LF)/high frequency (HF) ratio at night analyzed using the inter-RR spectrum by 24-hour electrocardiogram, which indicated relative activation of the sympathetic nervous system. The urinary secretion of norepinephrine at night was also significantly greater in patients (median, 0.119 microg/kg/h; range, 0.061 to 0.219, P =.011). These results suggest that paradoxical activation of the sympathetic nervous system may accelerate the production of heat in brown adipose tissue (BAT) and increase the level of energy consumption in patients, and that adolescent DMD patients may require greater caloric intake than expected to maintain body weight, which is important to improve the prognosis of their respiratory function.

Adipose Tissue, Brown↗
PubMed2001

Gender-specific occurrence of West syndrome in patients with pyruvate dehydrogenase complex deficiency.

Pyruvate dehydrogenase complex (PDHC) deficiency, a major cause of congenital lactic acidemia in children, usually is complicated by seizures, and, in some patients, West syndrome has occurred. We diagnosed 60 patients with PDHC deficiency, including equal numbers of affected males and females. We studied the clinical features in 10 patients with West syndrome caused by PDHC deficiency, and examined the relation to the mutation of the E(1)alpha subunit, representing the great majority of PDHC deficiencies. Among 30 boys and 30 girls with PDHC deficiency,1 boy and 9 girls had West syndrome, even though overall West syndrome shows a slight male preponderance. Therefore, West syndrome associated with PDHC deficiency occurred in 9 of 30 female patients (33%), but in only 1 of 30 male patients (3%). The frequency of West syndrome in patients with PDHC deficiency was significantly higher in females than in males(p<0.05). Lactate concentrations in blood and CSF should be measured in female patients with West syndrome as a screening test for PDHC deficiency, because of gender-specific occurrence of West syndrome caused by PDHC deficiency.

Acidosis, Lactic↗
PubMed2000

Somatosensory areas in man activated by moving stimuli: cytoarchitectonic mapping and PET.

This study was performed to identify neuronal populations in the somatosensory areas engaged in discrimination of moving stimuli on the skin. Changes in regional cerebral blood flow (rCBF) were measured with positron emission tomography (PET) and correlated with cytoarchitectonic sensorimotor areas 4a, 4p, 3a, 3b, and 1. Volunteers discriminated differences in the speed of a rotating brush stimulating the palmar surface. Discrimination of moving stimuli, contrasted to rest, increased the rCBF mainly in primary somatosensory (SI) area 1, but also in area 3b. The parietal operculum (PO) was activated bilaterally. We conclude that area 1 is the area in SI which is mainly responding to discrimination of moving stimuli and that the PO contains several regions engaged in the discrimination of fast transient stimuli.

Adult↗
PubMed2000

Object shape differences reflected by somatosensory cortical activation.

Humans can easily by touch discriminate fine details of the shapes of objects. The computation of representations and the representations of objects differing in shape are, when the differences are not founded in different sensory cues or the objects belong to different categories, assumed to take place in a series of cortical areas, which only show differences at the single-neuron level. How the somatosensory cortex computes shape is unknown, but theoretically it should depend heavily on the curvatures of the object surfaces. We measured regional cerebral blood flow (rCBF) of normal volunteers with positron emission tomography (PET) as an index of neuronal activation. One group discriminated a round set of ellipsoids having a narrow spectrum of curvatures and an oblong set of ellipsoids having a broad spectrum of curvatures. Another group discriminated curvatures. When the rCBF from the conditions round and oblong ellipsoid discrimination was contrasted, part of the cortex lining the postcentral sulcus had significantly higher rCBF when ellipsoids having a broader spectrum of curvatures were discriminated. This cortex was also activated by curvature discrimination. The activation is therefore regarded as crucial for the computation of curvature and in accordance with curvature being a major determinant of object form; this cortex is also crucially active in somatosensory shape perception. A comparison of the activation with cytoarchitectural maps, in the anatomical format of the standard brain for both PET and cytoarchitectural brain images, revealed that this part of the cortex lining the postcentral sulcus is situated caudally from cytoarchitectural area 1 and may involve presumptive area 2 on the posterior bank of the sulcus.

Adult↗
PubMed2000

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

Defects in the pyruvate dehydrogenase (PDH) complex are an important cause of primary lactic acidosis, a frequent manifestation of metabolic disease in children. Clinical symptoms can vary considerably in patients with PDH complex deficiencies, and almost equal numbers of affected males and females have been identified, suggesting an autosomal recessive mode of inheritance of the disease. However, the great majority of PDH complex deficiencies result from mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1). The major factors that contribute to the clinical variation in E1alpha deficiency and its resemblance to a recessive disease are developmental lethality in some males with severe mutations and the pattern of X-inactivation in females. To date, 37 different missense/nonsense and 39 different insertion/deletion mutations have been identified in the E1alpha subunit gene of 130 patients (61 females and 69 males) from 123 unrelated families. Insertion/deletion mutations occur preferentially in exons 10 and 11, while missense/nonsense mutations are found in all exons. In males, the majority of missense/nonsense mutations are found in exons 3, 7, 8 and 11, and three recurrent mutations at codons R72, R263 and R378 account for half of these patients with missense/nonsense mutations (25 of 50). A significantly lower number of females is found with missense/nonsense mutations (25). However, 36 females out of 55 affected patients have insertion/deletion mutations. The total number of female and male patients is thus almost the same, although a difference in the distribution of the type of mutations is evident between both sexes. In many families, the parents of the affected patients were studied for the presence of the PDHA1 mutation. The mutation was never present in the somatic cells of the father; in 63 mothers studied, 16 were carriers (25%). In four families, the origin of the new mutation was determined to be twice paternal and twice maternal.

Amino Acid Sequence↗
PubMed2000

Mitochondrial myopathy and familial thiamine deficiency.

We studied two siblings with a mitochondrial myopathy, familial thiamine deficiency, and an A3243G mutation of the mitochondrial DNA (mtDNA). The elder brother (patient 1, now 36 years old) developed myopathy and beriberi heart at 20 years of age. Thiamine therapy resolved the cardiac symptoms and hyperpyruvicemia and improved the myopathy. The younger brother presented aged 19 years with a myopathy (patient 2, now 35 years old). Thiamine deficiency was present in the siblings and parents, and ragged-red fibers (RRFs) were noted in muscle biopsies from the siblings. Analysis 17 years later demonstrated thiamine malabsorption and an A3243G mutation of the mtDNA in both siblings and their mother, progressive myopathy, and an increased number of RRFs and elevated serum CKMB activity in patient 1. Thiamine treatment decreased the serum concentrations of lactate and pyruvate in patient 2, but not patient 1. The role of thiamine in mitochondrial dysfunction caused by an electron transfer disorder in the setting of A3243G mtDNA mutation is discussed.

Adult↗
PubMed2000

Simultaneous movements of upper and lower limbs are coordinated by motor representations that are shared by both limbs: a PET study.

The purpose of this study was to examine the cerebral control of simultaneous movements of the upper and lower limbs. We examined two hypotheses on how the brain coordinates movement: (i) by the involvement of motor representations shared by both limbs; or (ii) by the engagement of specific neural populations. We used positron emission tomography to measure the relative cerebral blood flow in healthy subjects performing isolated cyclic flexion-extension movements of the wrist and ankle (i.e. movements of wrist or ankle alone), and simultaneous movements of the wrist and ankle (a rest condition was also included). The simultaneous movements were performed in the same directions (iso-directional) and in opposite directions (antidirectional). There was no difference in the brain activity between these two patterns of coordination. In several motor-related areas (e.g. the contralateral ventral premotor area, the dorsal premotor area, the supplementary motor area, the parietal operculum and the posterior parietal cortex), the representation of the isolated wrist movement overlapped with the representation of the isolated ankle movement. Importantly, the simultaneous movements activated the same set of motor-related regions that were active during the isolated movements. In the contralateral ventral premotor cortex, dorsal premotor cortex and parietal operculum, there was less activity during the simultaneous movements than for the sum of the activity for the two isolated movements (interaction analysis). Indeed, in the ventral premotor cortex and parietal operculum, the activity was practically identical regardless whether only the wrist, only the ankle, or both the wrist and the ankle were moved. Taken together, these findings suggest that interlimb coordination is mediated by motor representations shared by both limbs, rather than being mediated by specific additional neural populations.

Adult↗
PubMed2000

Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency.

We describe a child with severe psychomotor retardation, peripheral neuropathy and bilateral abnormal signal in basal ganglia on magnetic resonance imaging, consistent with Leigh disease. Fibroblast pyruvate dehydrogenase assayed with routine method was normal. However, because of neurological improvement after treatment with thiamine, pyruvate dehydrogenase activity was studied again with thiamine pyrophosphate concentration adjusted to the normal human tissue level and found to be deficient. We report here on diagnostic difficulties and clinical follow-up of this patient.

Child↗