Biomedical subjects

Mitsuru Ebihara

Publications and source records attributed to Mitsuru Ebihara.

10 recordsLinked to original sources

PubMed2007

Electromyographic findings after different selective neck dissections.

OBJECTIVES: The objective was to compare electrophysiologic investigations of the upper trapezius muscle (UT) after different selective neck dissections (SND) and analyze the differences between types of SND and the preservation and excision of the cervical nerves (the C2-4 rami of the cervical plexus). STUDY DESIGN: Retrospective study of 54 patients (average age, 65.1 +/- 9.6 yr, 45 males) with 70 SND. METHODS: Patients underwent needle electromyography (EMG) of the UT by 4 months after surgery. The findings were rated according to the 5 point EMG scale system from 1 (total denervation: positive sharp wave or fibrillation potential at rest and electrical silence at voluntary contraction) to 5 (normal pattern). RESULTS: The average EMG scale was 1.7 +/- 1.1, 58.6% for score 1 and only 5.7% for score 5. There was not a significant difference in the EMG scale between the types of SND, whereas the group in which the cervical nerves were excised was significantly lower than in that in which it was preserved. The average EMG scales in the former and latter were 1.5 +/- 0.8 and 2.0 +/- 1.3, 68.8%. CONCLUSIONS: The study data confirm that complete or incomplete denervation of the UT was caused by axonal injury of the spinal accessory nerve, even though it was spared, because of traction of the nerve during neck dissection. Second, the excision of the C2 to 4 rami of the cervical plexus caused worse damage of the UT. It is suggested that it is important to preserve the cervical nerves to avoid denervation of the UT.

Accessory Nerve↗

PubMed2006

Primary nasopharyngeal mucoepidermoid carcinoma in Japanese patients: two case reports with histochemical and immunohistochemical analysis and a review of the literature.

Mucoepidermoid carcinoma is a common neoplasm of the salivary glands. Salivary gland-type neoplasms are very rare in the nasopharynx, and there are only few reports on mucoepidermoid carcinoma of the nasopharynx. Two additional cases of mucoepidermoid carcinoma arising from the nasopharynx are reported here. Case 1: the patient was a 57-year-old Japanese woman who had bloody sputum. Case 2: the patient was a 51-year-old Japanese woman who underwent resection of a nasopharyngeal tumor. Histologically, both tumors were also low-grade mucoepidermoid carcinomas with clear cells. Histochemically, the gland-like nests and mucous cells were positive for mucin staining. Immunohistochemically, the lesions were positive for cytokeratins (CKs), p63, and MUC1, but negative for alpha-smooth muscle actin and EBER mRNA. The Ki-67 labeling indices of the two tumors were 10.4% and 4.3%, respectively. The two present cases and a review of the English literature indicate that salivary gland-type neoplasms arising from the nasopahrynx are extremely rare. The prognosis of salivary gland-type carcinomas of the nasopharynx is still unknown.

Biomarkers, Tumor↗

PubMed2006

Primary adenoid squamous cell carcinoma of the oral cavity.

Adenoid squamous cell carcinoma (ASCC) is an uncommon but well-recognized variant of squamous cell carcinoma that was first described by Lever in 1947. ASCC has been reported to originate in the sun-exposed skin of the head and neck and in other sites. An additional case of ASCC is reported here. The patient was a 64-year-old Japanese woman who requested examination of a reddish lesion on the left floor of the mouth. The biopsy material was diagnosed as squamous cell carcinoma. Clinical examination showed a well-circumscribed, 20 x 10 mm-sized lesion, which was categorized as cT2cN0cm 0. Tumor resection was therefore performed. Histologically, most parts of the lesion were conventional squamous cell carcinoma in situ, but the invasive part consisted of ASCC with gland-like or reticular appearance. The latter part was negative for mucin staining. Immunohistochemically, this lesion was positive for pancytokeratin, high-molecular-weight keratin, cytokeratin (CK) 7/8, CK19, E-cadherin and p53, but negative for vimentin, CK20, and S-100 protein. The Ki-67 labeling index was 50.3% in the ASCC part and 34.5% in the carcinoma in situ part. These findings and a review of the literature indicate that a gland-like feature of ASCC is associated with the loss of cell adhesion in the center of the cancer nests, and it can be confirmed simply by mucin staining to be neither an adenosquamous carcinoma nor ductal involvement of conventional squamous cell carcinoma.

Cadherins↗

PubMed2004

Structural characterization and promoter analysis of human potassium channel Kv8.1 (KCNV1) gene.

The voltage-gated K(+) channel (Kv) family comprises four subfamilies: Kv1, Kv2, Kv3 and Kv4. Kv6, Kv7, Kv8 and Kv9 subfamilies have also recently been reported. The gene for Kv8.1 (KCNV1) maps onto chromosome 8q23.3, a locus for benign adult familial myoclonic epilepsy. Despite sequence identity with other K(+) channel genes, KCNV1 does not display K(+) channel activity when expressed in Xenopus oocytes, instead inhibiting activity of Kv2 and Kv3 channels. The present study investigated the molecular structure of KCNV1. In silico analysis detected a new 5' noncoding exon, which extended the reported cDNA sequence to approximately 600 bp. A promoter motif was found only in the upstream region of the newly detected exon 1. To determine the transcriptional mechanism of KCNV1, we generated a series of deletion mutants and random mutants, and examined promoter activities using the luciferase system. Three Sp1 motifs were found to be active in the core promoter sequence, spanning from nt -1350 to -911 (A of the ATG initiation codon was counted as +1). At least two additional sequences were detected as essential elements for promoter activity. A possible alternative 3' end was also detected at 280 bp downstream from the reported 3' end. These results provide useful information in developing KCNV1 screening for epileptic disease.

Base Sequence↗

PubMed2004

Association between schizophrenia with ocular misalignment and polyalanine length variation in PMX2B.

The increased incidence of minor physical anomalies (MPAs) in schizophrenia is the fundamental basis for the neurodevelopmental hypothesis of schizophrenia etiology. Ocular misalignment, or strabismus, falls into the category of MPAs, but this phenotype has not been assessed in schizophrenia. This study reveals that a subtype of strabismus, constant exotropia, displays marked association with schizophrenia (P=0.00000000906). To assess the genetic mechanisms, we examined the transcription factor genes ARIX (recently identified as a causative gene for syndromic strabismus) and its paralogue, PMX2B. We identified frequent deletion/insertion polymorphisms in the 20-alanine homopolymer stretch of PMX2B, with a modest association between these functional polymorphisms and constant exotropia in schizophrenia (P=0.029). The polymorphisms were also associated with overall schizophrenia (P=0.012) and more specifically with schizophrenia manifesting strabismus (P=0.004). These results suggest a possible interaction between PMX2B and other schizophrenia-precipitating factors, increasing the risk of the combined phenotypes. This study also highlights the unique nature of the polyalanine length variations found in PMX2B. In contrast with other transcription factor genes, the variations in PMX2B show a high prevalence, with deletions being more common than insertions. Additionally, the polymorphisms are of ancient origin and stably transmitted, with mild phenotypic effects. In summary, our study lends further support to the disruption of neurodevelopment in the etiology of schizophrenia, by demonstrating the association of a specific MPA, in this case, constant exotropia with schizophrenia, along with molecular variations in a possible causative gene.

Base Sequence↗

PubMed2003

Transcriptional activities of cholecystokinin promoter haplotypes and their relevance to panic disorder susceptibility.

We previously identified a polymorphic compound short tandem repeat (STR) in the 5'-regulatory region of the cholecystokinin (CCK) gene, and showed that when the STRs were classified into three groups based on length and linkage disequilibrium behavior with neighboring variants, the medium class allele was significantly associated with panic disorder. The present study examined the transcriptional activity of the CCK promoter construct containing the STR and downstream -188A/G variation. The STRs acted as transcriptional repressors with a similar potency among the three classes, but the long (L) class STR exhibited a synergistic effect on decreasing promoter activity when combined with -188G. The haplotype composed of the L class of STR and -188G was significantly less frequent in panic disorder (P = 0.0032; odds ratio, 95% confidence interval = 0.06, 0.01-0.69). These results suggest that the L-(-188G) haplotype may act as a protective factor against panic by reducing the expression of anxiogenic CCK.

Alleles↗

PubMed2003

A microsatellite repeat in the promoter of the N-methyl-D-aspartate receptor 2A subunit (GRIN2A) gene suppresses transcriptional activity and correlates with chronic outcome in schizophrenia.

Hypofunction of the N-methyl-D-aspartate (NMDA) receptor has been hypothesized to underlie the pathophysiology of schizophrenia, based on the observation that non-competitive antagonists of the NMDA receptor, such as phencyclidine, induce schizophrenia-like symptoms. Mice lacking the NR2A subunit of the NMDA receptor complex are known to display abnormal behaviour, similar to schizophrenic symptoms. The expression of NR2A starts at puberty, a period corresponding to the clinical onset of schizophrenia. This evidence suggests that the NR2A (GRIN2A) gene may play a role in the development of schizophrenia and disease phenotypes. In this study, we performed a genetic analysis of this gene in schizophrenia. Analysis of the GRIN2A gene detected four single nucleotide polymorphisms, and a variable (GT)(n) repeat in the promoter region of the gene. A case-control study (375 schizophrenics and 378 controls) demonstrated evidence of an association between the repeat polymorphism and the disease (P = 0.05, Mann-Whitney test), with longer alleles overly represented in patients. An in-vitro promoter assay revealed a length dependent inhibition of transcriptional activity by the (GT)(n) repeat, which was consistent with a receptor binding assay in postmortem brains. Significantly, the score of symptom severity in chronic patients correlated with repeat size (P = 0.01, Spearman's Rank test). These results illustrate a genotype-phenotype correlation in schizophrenia and suggest that the longer (GT)(n) stretch may act as a risk-conferring factor that worsens chronic outcome by reducing GRIN2A levels in the brain.

Adult↗

PubMed2002

Genomic organization and promoter analysis of the human nicotinic acetylcholine receptor alpha6 subunit (CHNRA6) gene: Alu and other elements direct transcriptional repression.

Nicotinic acetylcholine receptors (nAChRs) form ligand-gated ion channels involved in fast synaptic transmission. Recently mutations in nAChR genes have been reported in nocturnal frontal lobe epilepsy. We performed molecular analysis on the human neuronal nAChR alpha6 subunit (CHRNA6) gene, a member of nAChR gene family, to understand its role in disease. Genomic analysis revealed that the gene consisted of six exons with an estimated size of 16 kb. We mapped the CHRNA6 gene to chromosome 8p11.21-11.22 by fluorescence in situ hybridization, the same putative region responsible for adolescent-onset idiopathic generalized epilepsy. Examination of the 5'-regulatory region failed to identify either a TATA box or GC-rich sequences, but did highlight tandem Alu sequences, located between 910 and 370 bp upstream from a potential cap site. Analyses of transcriptional activity, performed using nested deletions of the 5'-upstream region, showed that the downstream Alu repeat and another element(s) in the promoter region, function as negative regulators. Further analyses of the tandem Alu repeats, examined by fusing them to a different ion channel gene promoter, confirmed their role as transcriptional repressors regardless of their orientation and copy number. These data may explain the limited expression of the CHRNA6 gene in the brain.

Alu Elements↗

PubMed2002

Association study of the short tandem repeat in the 5' upstream region of the cholecystokinin gene with mood disorders in the Japanese population.

We have recently identified a novel polymorphic short tandem repeat (STR) in the 5' upstream region of the cholecystokinin (CCK) gene and reported its association with panic disorder. A linkage study of affective disorder showed a modest linkage signal on the short arm of chromosome 3, the location of the CCK gene. Furthermore, clinical comorbidity of depression and anxiety disorders have been documented. In the present study, we examined a possible association of the CCK STR with mood disorders. We genotyped 165 subjects with mood disorders consisting of unipolar and bipolar disorders and 253 control samples. However, no significant allelic associations were detected between the STR and either the combined mood disorders (P = 0.885), the unipolar group (P = 0.296), or the bipolar group (P = 0.605). These data suggest that the CCK promoter STR is unlikely to have a major genetic effect on the development of mood disorders in the Japanese population.

Adult↗

PubMed2002

A new source of basaltic meteorites inferred from Northwest Africa 011.

Eucrites are a class of basaltic meteorites that share common mineralogical, isotopic, and chemical properties and are thought to have been derived from the same parent body, possibly asteroid 4 Vesta. The texture, mineralogy, and noble gas data of the recently recovered meteorite, Northwest Africa (NWA) 011, are similar to those of basaltic eucrites. However, the oxygen isotopic composition of NWA011 is different from that of other eucrites, indicating that NWA011 may be derived from a different parent body. The presence of basaltic meteorites with variable oxygen isotopic composition suggests the occurrence of multiple basaltic meteorite parent bodies, perhaps similar to 4 Vesta, in the early solar system.

Africa↗