Biomedical subjects

K Ohara

Publications and source records attributed to K Ohara.

At least 19 recordsLinked to original sources

PubMed1999

Schizophrenia and the serotonin-2A receptor promoter polymorphism.

Serotonin-2A (5-HT2A) receptors have received much investigative attention in schizophrenia because (1) several studies have shown a decrease in the number of 5-HT2A receptors in the prefrontal cortex of postmortem brains of schizophrenic patients; (2) atypical antipsychotic drugs are antagonists for 5-HT2A receptors; and (3) a positive association between a T to C polymorphism at position 102 of the 5-HT2A receptor gene and schizophrenia has been reported. A G to A polymorphism at position -1438 of the 5-HT2A receptor gene was studied in 119 schizophrenic patients and 106 healthy control subjects, all of whom were Japanese. The genotype and allele frequencies did not differ between the patients and control subjects. Furthermore, the genotype frequency did not differ according to diagnostic subtype, family history, age at onset of illness, or daily dosage of antipsychotic medication. Our results suggest that the polymorphism does not contribute to the etiology or clinical characteristics of schizophrenia. However, the gene is greater than 20 kbp in length, and thus it is possible that other areas that affect expression of the gene may vary. We found that the -1438G/A variant was in linkage disequilibrium with the T102C polymorphism.

Adult↗

PubMed1999

Apolipoprotein E epsilon 4 allele and Japanese late-onset depressive disorders.

BACKGROUND: Several studies have suggested that late-onset depressive disorder (LOD) and the apolipoprotein E (Apo E) epsilon 4 allele are associated with dementia, respectively. The Apo E polymorphism is significantly heterogeneous among races. We hypothesized that the Apo E epsilon 4 allele frequency is elevated in Japanese LOD. METHODS: The Apo E genotype was studied in 134 patients (male, 53; female, 81) with early-/late-onset depressive disorder and 105 healthy normal controls (male, 41; female, 64). The patients were subdivided into those with early onset and late onset using 45 and 50 years as the cutoff ages. All the subjects were Japanese. RESULTS: There was statistically no difference between normal control subjects and patients with depressive disorders in Apo E genotype or allele frequency. There was statistically no difference in the age of onset of depressive disorders according to the Apo E genotype. There was no relation between the age of onset of depressive disorder and the number of epsilon 4 alleles the patient had. There was also no association between early-/late-onset depressive disorder and the Apo E genotype or allele frequency. CONCLUSIONS: Our results suggest that there is no association between the Apo E epsilon 4 allele and Japanese LOD.

Adult↗

PubMed1999

Ultrasound biomicroscopy of ciliary body cysts.

PURPOSE: To report the incidence and sector distribution of ciliary body cysts in normal subjects and to assess association with age using ultrasound biomicroscopy. METHODS: We prospectively examined 232 eyes of 116 normal subjects (51 men and 65 women) ranging in age from 15 to 84 years (mean +/- SD, 45.2 +/- 20.1). Complete ophthalmic examination, including gonioscopy and ophthalmoscopy with mydriasis, was performed. In addition, the circumference of the ciliary body was divided into eight sectors, and scanned in transverse and radial sections by high-resolution ultrasound biomicroscope to determine the incidence, distribution, and location of cysts. RESULTS: Based on one randomly chosen eye from each subject, cysts were detected in 63 (54.3%) of the 116 subjects. Cysts were found most frequently and in greater numbers in the inferior and temporal sectors. The incidence and the distribution range, expressed as the number of involved sectors per eye, were 73.1% and 3.8, respectively, for subjects 20 approximately 29 years old; both incidence and the number of involved sectors decreased with age (P = .0001). Cyst diameter ranged from 200 to 2500 microm; mean size decreased with age (P = .001). Gender and refractive error did not affect the incidence and distribution. There was significant bilateral correlation in the number, incidence, and distribution of ciliary body cysts. CONCLUSION: Ultrasound biomicroscopy disclosed a high incidence of ciliary body cysts in normal subjects, which decreased with age. Cysts were multiple and bilateral in many subjects.

Adolescent↗

PubMed1999

Loricrin gene mutation in a Japanese patient of Vohwinkel's syndrome.

Vohwinkel's syndrome (VS) is a rare, dominantly inherited keratoderma with pseudoainhum. Recently, a mutation in loricrin gene has been reported in two VS families of British extraction. In the present study, we examined the loricrin gene mutation in a Japanese VS patient. The patient was a 20-year-old woman. She had palmoplantar keratoderma, constricting bands encircling all the fingers, fifth toes, wrist, and neck. She also had generalized mild ichthyosis and suffered from acoustic impairment. Her parents and a brother showed no skin abnormality. Histopathology of the patient revealed hyperkeratosis with parakeratosis, together with hypergranulosis. The clinical and histopathological findings were consistent with an ichthyotic (or Camisa) variant of VS. The sequence analysis of the loricrin gene revealed that the patient had a heterozygous mutation identical to that described in previous reports, i.e. a G insertion producing a frameshift at codon 231 with an abnormal C-terminus. These results clearly demonstrate that a common loricrin gene mutation underlies VS in different ethnic groups.

Adult↗

PubMed1999

Correlation between symptomatic, radiological and etiological diagnosis in acute ischemic stroke.

OBJECTIVES: The aim of this study was to correlate with the symptomatic, radiological and etiological diagnosis in acute ischemic stroke. SUBJECTS AND METHODS: Two hundred and fifty patients with first-ever ischemic stroke within 24 h of onset were prospectively studied with 3-step diagnoses: 1) symptomatic diagnosis based on the Oxfordshire Community Stroke Project criteria (OCSP), 2) radiological diagnosis (CT or MRI) and 3) etiological diagnosis based on the Lausanne Stroke Registry criteria. RESULTS: Most of the patients with symptoms of total anterior circulation infarcts (TACI), partial anterior circulation infarcts (PACI) and posterior circulation infarcts (POCI) had corresponding lesions on CT or MRI, while only 68% of lacunar infarcts (LACI) patients had small subcortical infarction (SSI). More than 60% of patients with TACI were classified into cardioembolism in the third diagnosis, while the etiology of PACI was either CE or large-artery atherosclerosis (LAA) in equal numbers. Only 58% of LACI patients were classified into small-artery disease (SAD) and 29% of them (30 cases) into LAA, of which 23 patients had lesions other than SSI. The positive predictive value of SAD in the combination of LACI and SSI was 0.78. The etiology of POCI was variable. CONCLUSION: Except for LACI, the symptomatic classification by OCSP corresponds well to the radiological diagnosis. The etiological diagnosis can be predicted by OCSP in TACI and PACI, but it is hard in POCI, and a number of LACI are due to LAA.

Adult↗

PubMed1999

[Problem of molecular psychiatry in view of the trinucleotide repeat expansion disease].

Recent findings of trinucleotide repeat expansion diseases (TNED) have suggested that some familial psychiatric diseases may be caused by the same molecular mechanisms. Anticipation and imprinting phenomena have been shown to be present in families with schizophrenia. Studies by means of the Repeat Expansion Detection (RED) showed the frequencies of the expanded CAG repeat in schizophrenia was larger than those in normal control subjects. However, there are several problems; anticipation may be caused by not only TNED but also by unknown mechanisms and biases; RED method cannot detect the specific TNE, and TNE which was unrelated to a disease was found.

Anticipation, Genetic↗

PubMed1998

Functional polymorphism of -141C Ins/Del in the dopamine D2 receptor gene promoter and schizophrenia.

Several studies showed the density of D2 receptors was elevated in postmortem brains from schizophrenics. Genes which operate at the level of gene activation may be associated with the pathogenesis of schizophrenia. Arinami et al. [(1997) Human Molecular Genetics 6, 577-582] found a polymorphism in the 5'-flanking region of the D2 receptor gene designated as -141C Ins/Del. The promoter activity by luciferase assay of a plasmid containing the -141C Ins allele was higher than in the one containing the -141C Del allele. In addition, the -141C Ins allele frequency was significantly higher in schizophrenics than in control subjects. We replicated the -141C Ins/Del polymorphism in 170 schizophrenics and 121 healthy control subjects. The number of schizophrenics with the -141C Ins/Ins genotype was significantly higher than that of control subjects (P = 0.038). The frequency of the -141C Ins allele was significantly increased in the schizophrenics compared with the control subjects (P = 0.042). The mean age of onset for the patients with -141C Ins/Del was significantly lower than that for the patients with -141C Ins/Ins (P = 0.029). There was no association between the genotype and either positive symptoms or the response to antipsychotic medication. Our results suggest that the -141C Ins/Del polymorphism may affect the susceptibility to schizophrenia.

Adult↗

PubMed1998

Association between anxiety disorders and a functional polymorphism in the serotonin transporter gene.

Recently, individuals with the short form of the serotonin transporter were found to be associated with neurotic characteristics. An association study on this polymorphism was performed in anxiety disorder patients and control subjects. The short form allele frequency in patients tended to be higher than that in control subjects (81.7 vs. 74.5%). Although it is difficult to ascribe significance to these 'tendencies', these data may suggest that variation of this functional polymorphism makes some contribution to anxiety disorders.

Adult↗

PubMed1998

Functional polymorphism in the serotonin transporter promoter at the SLC6A4 locus and mood disorders.

BACKGROUND: Heils et al found a functional polymorphism in the transcriptional control region upstream of the serotonin transporter gene at the SLC6A4 locus. The transcriptional promoter activity of the short (s) form was less than twice that of the long (l) form of the serotonin transporter promoter gene. In addition, they found individuals with the s form with associated neurotic characteristics (e.g., anxiety, anger, hostility, and depression). The purpose of this study was to determine whether or not there is an association between this functional polymorphism and mood disorders. METHODS: The l/s polymorphism was studied in 80 patients with mood disorders and 92 control subjects. RESULTS: There was statistically no difference between mood disorders and healthy controls in either the genotype or the allele frequency. There was statistically no difference between the genotype and subdiagnosis, family history, single/recurrent episodes of depressive disorders, suicide attempts, or the mean age of onset. CONCLUSIONS: Our results suggest there is no association between the l/s polymorphism of the serotonin transporter gene and mood disorders.

Adult↗

PubMed1998

No association between anxiety disorders and catechol-O-methyltransferase polymorphism.

Several studies have shown that the morbidity risk for anxiety disorders is increased among the relatives of patients with obsessive-compulsive disorder (OCD). Recently, it was reported that a polymorphism of the catechol-O-methyltransferase (COMT) gene is significantly associated with OCD. The purpose of this study was to determine the association, if any, between the COMT polymorphism and anxiety disorders. We undertook an association study of the COMT polymorphism in 108 patients who met DSM-IV criteria for anxiety disorders and 135 healthy controls. All subjects were unrelated Japanese. The subdiagnostic groups did not differ significantly from the control group in either the genotypic or allelic frequencies. There were no statistically significant differences between the genotype and males, females, or a family history. The mean age of onset did not significantly differ among the genotypes. Our results suggest this functional COMT polymorphism does not make an important contribution to anxiety disorders in the Japanese population.

Adult↗

PubMed1998

Detection of DNA lesions induced by chemical mutagens by the single cell electrophoresis (Comet) assay. 1. Relationship between the onset of DNA damage and the characteristics of mutagens.

We evaluated the relationship between the onset of DNA damage and the characteristics of 5 model chemical mutagens with the single-cell gel electrophoresis (SCG) assay using L5178Y mouse lymphoma cells. We treated the cells with each chemical for 3 h and sampled them 0.21, and 45 h after treatment. DNA damage induced by UV mimetic mutagens MMS and MNU, and X-ray mimetic mutagen BLM was observed just after treatment, crosslinking agent MMC-induced DNA damage was detected 21 h after treatment, and 6-MP as an inhibitor of DNA synthesis did not induce DNA damage at any sampling time. These results suggest that the SCG assay detects DNA lesions just after treatment with UV and X-ray mimetic mutagens, but needs a waiting period after treatment with crosslinking agents.

Animals↗

PubMed1998

Anticipation and imprinting in Japanese familial mood disorders.

Several reports have suggested the presence of anticipation and imprinting in Caucasian families with either unipolar or bipolar affective disorders. In practice, families consisting of subjects with bipolar and unipolar affective disorders are common, whereas unipolar cases were not included in the analysis because of their uncertain diagnostic status. The purpose of this study is to determine if anticipation and imprinting are associated with Japanese familial mood disorders. The age of onset, clinical course rating, single/recurrent disease episodes, number of hospitalizations, and number of suicide attempts were compared between two generations in 26 Japanese families with mood disorders [offspring/parental: unipolar (U/U), 14; bipolar/unipolar (B/U), 12]. A significantly lower age of onset and more recurrent episodes were observed in the offspring generation than in the parental generation in both U/U and B/U families. Our results suggest the presence of anticipation in both Japanese U/U and B/U families with mood disorders.

Adult↗

PubMed1998

Polymorphism in the promoter region of the alpha 2A adrenergic receptor gene and mood disorders.

Alpha 2 adrenergic receptors are thought to play a crucial role in the etiology or treatment of mood disorders. Polymorphism(s) in the promoter region of the alpha 2 receptor may affect the gene expression and be associated with mood disorders. We studied the previously reported polymorphisms of the alpha 2A receptor gene at position-1291 in 114 healthy controls and 103 mood disorder patients. There was statistically no difference between controls and patients in either the genotype or the allele frequency. There was statistically no difference between the genotype and the clinical characteristics. Our results suggest there is no association between this polymorphism in the promoter region of the alpha 2A receptor gene and mood disorders.

Alleles↗

PubMed1998

Low activity allele of catechol-o-methyltransferase gene and Japanese unipolar depression.

Several studies have shown that depressed patients have significantly lower catechol-o-methyltransferase (COMT) activity than healthy controls. Two COMT genes coding for low activity, COMTL, and high activity, COMTH have been identified. We undertook an association study on 75 depressive disorder patients, 40 bipolar disorder patients and 135 healthy controls. All the subjects were Japanese. Patients with depressive disorders exhibited a significantly higher rate of genotypes with the COMTL allele than healthy controls (p = 0.012), which was not the case in patients with bipolar disorders. The presence of the COMTL allele was significantly associated with depressive disorders (odds ratio 2.19, 95% CI 1.19-4.03). Our results suggest the COMTL allele contributed to the etiologies of depressive disorders.

Adult↗

PubMed1998

5-HT2A receptor gene promoter polymorphism--1438G/A and mood disorders.

A 5-HT2A receptor promoter polymorphism, -1438G/A, was reported to be significantly increased in patients with anorexia nervosa when compared with controls. In practice, many patients with anorexia nervosa suffer from mood disorders. Furthermore, 5-HT2A receptors are thought to play a role in the etiologies of mood disorders. Thus, we studied the polymorphism in 95 Japanese patients with mood disorders and 106 healthy Japanese controls. The allele frequency for the -1438G/A polymorphism did not differ between the patients and controls. In addition, the genotype frequencies did not differ according to the subdiagnosis, age of onset, family history of psychiatric illness or suicide attempts.

Adult↗

PubMed1998

[Three cases of right-sided active endocarditis with multiple pulmonary infarction].

We have experienced three patients with right-sided active endocarditis combined with multiple pulmonary infarction. Ventricular septal defect (VSD), aortic regurgitation (AR), tricuspid regurgitation (TR) and congestive heart failure were present in case 1. TR was present in case 2. VSD, TR and patent ductus arteriosus were present in case 3. alpha-Streptococcus caused endocarditis in case 1 and 3; Candida albicans caused endocarditis in case 2. Antibotic therapy had no effect in case 2 and 3. Case 1 and 3 developed pulmonary hemorrhage, which resolved before the operation in case 1, but not in case 3. Our three patients underwent surgery and recovered successfully. They were discharged on the 43th, 58th and 32th postoperative day and are presently free of clinical symptoms. These experiences suggest surgery should be undertaken in the following situations: 1. antibiotic therapy has no effect on the infection, 2. hemodynamics are worsening, and 3, pulmonary infarction and pulmonary hemorrhage occur repeatedly.

Aged↗

PubMed1998

[Case report of surgical repair of left ventricular free wall rupture using GRF glue and pericardial patch].

A 73-year-old woman with acute myocardial infarction (Seg. 6: 100%) was admitted to our hospital. She underwent percutaneous transluminal angioplasty (PTCA) and stent insertion to Seg. 6 on that day and anticoagulant therapy with urokinase and heparin was started in CCU. On the 4th day, chest pain developed suddenly and echocardiography revealed cardiac tamponade, so we suspected left ventricular free wall rupture. When blood pressure increased to 100 mmHg in the operating room, the left ventricular free wall rupture became "blow out" type. After establishing extracorporeal circulation, we glued Xenomedica and autologous pericardium using gelatin-resorcin-formaldehyde glue (GRF glue) to the linear tear without damaging the myocardium and coronary arteries and reducing left ventricular volume. Bleeding was completely controlled. This experience suggests that this procedure might be effective for left ventricular free wall rupture.

Aged↗

PubMed1998

Changes of monoamines in post-mortem brains from patients with diffuse Lewy body disease.

1. In the present study, we measured the concentrations of 5-hydroxytryptamine (5-HT), norepinephrine and dopamine in post-mortem brains from five patients with diffuse Lewy body disease (DLBD), in comparison with five brains from patients with Alzheimertype dementia (ATD), and five brains from normal controls. 2. They were measured by means of high-performance liquid chromatography fluorometric detection. 3. Compared with the ATD and normal control brains, the DLBD ones showed decreased concentrations of 5-HT, norepinephrine and dopamine in the putamen, and lower 5-HT and norepinephrine concentrations, and almost equal dopamine ones in the neocortex.

Aged↗