Search PubMed⌕ Search

Biomedical subjects

T Shiono

Publications and source records attributed to T Shiono.

At least 37 records · Page 2Linked to original sources
PubMed1995

Autosomal dominant cone-rod dystrophy with negative electroretinogram.

AIMS: The negative electroretinogram (ERG) is observed in many hereditary retinal disorders. However, no reports have described a negative ERG in a family with autosomal dominant cone-rod dystrophy. A Japanese family with autosomal dominant cone-rod dystrophy with negative ERG is described. METHOD: Members of a Japanese family with autosomal dominant cone-rod dystrophy were examined and evaluated with Goldmann and Humphrey perimetry, bright flash ERG with an intense white stimulus, rod, cone, and flicker ERGs, and fluorescein angiography. Molecular analysis of the rhodopsin and peripherin/RDS genes in the patients was also performed. RESULTS: A 45-year-old Japanese man (proband) presented with decreased visual acuity. His fundi revealed bull's eye maculopathy and his single flash bright ERG showed a negative configuration. Negative ERG responses also were found in his father, who had macular degeneration, and one of the proband's three children who showed no fundus changes. No irregularities were found in their rhodopsin or peripherin/RDS genes. CONCLUSION: The condition of this family is believed to represent a previously undescribed autosomal dominant cone-rod dystrophy.

Adolescent↗
PubMed1995

X linked ocular albinism in Japanese patients.

Thirteen affected Japanese male patients and 13 female carriers with X linked ocular albinism from seven families were examined to assess their clinical findings and to compare them with those of white and black patients. Affected Japanese patients had poor visual acuity, horizontal nystagmus, macular hypoplasia, and loss of stereopsis. Some affected patients had non-albinotic fundus with moderate pigmentation. The amount of pigment in the fundus varied among affected patients and appeared to be between that of the white and black patients. All affected patients had brown irides that show no translucency. Interestingly, two affected patients had megalocornea and a third affected patient had posterior embryotoxon. All female carriers exhibited good visual acuity, normal eye position, stereopsis, brown irides without translucency, and the typical mosaic pattern in the fundus. The pigmented iris and fundus made the correct diagnosis of these affected patients difficult. Nine affected patients (70%) had been diagnosed initially as having congenital nystagmus, with or without macular hypoplasia, until they were reviewed for this study.

Adolescent↗
PubMed1995

An autopsied case of T-cell rich B-cell lymphoma with general involvement.

Autoptic findings of a 77-year-old man with T-cell-rich B-cell lymphoma (TCRBCL) showed predominant infiltration of reactive T-cells with a minority population of neoplastic B-cells in liver, spleen, pancreas, adrenal gland, stomach, small intestine and heart, as well as, lymph node. DNA studies demonstrated dual rearrangement in the T-cell receptor beta (TCR beta), immunoglobulin heavy chain J region (IgJH) and kappa light chain J region (IgJ kappa) genes.

Aged↗
PubMed1995

[Retinochoroidal circulatory disturbances and blood component abnormalities].

The recent analysis of blood components has revealed that retinochoroidal circulation may be disturbed in patients with abnormalities of blood components. These blood abnormalities include iron deficiency anemia with or without thrombocytosis, dysplasminogenia, von Willebrand's disease, protein S deficiency, protein C deficiency, and abnormal platelet function. The ophthalmoscopic findings in these disorders include retinal vein occlusion, retinal artery occlusion, choroidal circulatory disturbance, and vitreoretinal hemorrhage. The incidence of blood component abnormalities is high in young patients who rarely have systemic hypertension or arterial sclerosis. We review these blood disorders and emphasize the importance of blood analysis in the patients with retinochoroidal circulatory disturbances.

Adolescent↗
PubMed1995

[A study on the rhodopsin gene in Japanese retinitis pigmentosa--screening of mutation by restriction endonucreases and frequencies of DNA polymorphisms].

We analyzed 11 sites of the rhodopsin gene using polymerase chain reaction (PCR) amplification and restriction endonucleases in 30 unrelated Japanese patients with autosomal dominant retinitis pigmentosa (ADRP). No point mutation was found in any patient. The frequencies of the single nucleotide (nt) substitution at nt 269, nt 5145 and nt 5321 were examined in three groups, 38 unrelated patients with ADRP, 23 patients with autosomal recessive retinitis pigmentosa (ARRP), and 67 normal controls. There was no significant difference in the frequencies of substitution among these three groups. The frequencies of A269G, G5145A, and C5321A were 52%, 36%, and 5%, respectively. These values were different from those of the American population. The polymorphisms, A269G and G5145A, are useful as DNA makers for linkage analysis.

Asian People↗
PubMed1994

Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene.

OBJECTIVE: To identify phenotypic characteristics of a certain mutation in the peripherin/RDS gene. DESIGN: Case reports with clinical features and results of fluorescein angiography, electroretinography, kinetic visual field testing, dark adaptometry, and DNA analysis. SETTING: University medical center. PATIENTS: We studied the ocular findings in eight members of a Japanese family with autosomal dominant retinitis pigmentosa and cytosine-to-adenine transversion at the third nucleotide in codon 244 of the peripherin/RDS gene. This mutation resulted in a substitution of lysine for asparagine in amino acid 244 of peripherin/RDS, a photoreceptor-specific glycoprotein. RESULTS: Clinical findings of each affected member in this family showed a marked intrafamilial similarity, which may provide the natural course of the phenotype produced by the Asn244Lys mutation. Characteristic features include diffuse pigmentary retinal degeneration in the midperipheral and peripheral fundi associated with macular degeneration in the later stage, starting with bull's-eye maculopathy, and severely deteriorated electroretinographic findings in both rods and cones, even in the early stage. CONCLUSION: The mutation at codon 244 of the peripherin/RDS gene causes both rod and cone degeneration, although the precise mechanism of retinal degeneration is currently unknown.

Adult↗
PubMed1994

Vogt-Koyanagi-Harada disease in identical twins.

BACKGROUND: Certain aspects in the development of Vogt-Koyanagi-Harada (VKH) disease are documented, and immunogenetic studies have revealed a high relevance of some HLA types. Roles of possible environmental factors in disease onset are not fully understood, however. METHODS: Two cases involving monozygotic twin sisters who were diagnosed as having VKH disease and followed for more than 2 years are presented. RESULTS: Both patients showed the diffuse panuveitis that is characteristic of VKH disease and shared the same HLA typings. However, there was a 16-year time lag between onset of disease in the two patients, and many differences in their lifestyles before disease onset were noted. CONCLUSION: Although certain endogenous factors play an important role in the development of VKH disease, some exogenous factors may also affect the onset of the disease.

Adult↗
PubMed1994

[Cytoprotective effects of nicorandil on immature myocytes under hypothermic conditions].

We evaluated the functional and biochemical effects of nicorandil on cardiac myocytes incubated under hypothermic conditions. Cardiac myocytes were isolated from neonatal rat ventricles and cultured for 4 days. Myocytes (12.5 x 10(5) myocytes/flask) were then incubated at 4 degrees C for 24 hrs in media with nicorandil as follows: O M nicorandil (group C: control), 10(-5)M (group N 1), 5 x 10(-5)M (group N 2), 10(-4)M (group N 3). After hypothermic incubation, CPK and LDH were measured. The myocytes were then cultured for 24 hrs at 37 degrees C to evaluate the recovery of myocyte beating rate. For the beating rate, group N 3 showed a significantly increased recovery compared to the control (N 3: 44.2, p < 0.02, C: 24.6 percent of control; ie, beating rate prior to hypothermic incubation). The release of CPK and LDH was significantly suppressed in group N 3 compared to the control (N 3: 24.1, p < 0.005, 247.2, p < 0.01; C: 125.4 mIU/flask, 459.5 mIU/flask, respectively). Thus, nicorandil has cytoprotective effects on immature myocytes under hypothermic conditions.

Animals↗
PubMed1994

Rapid and efficient molecular analysis of gyrate atrophy using denaturing gradient gel electrophoresis.

PURPOSE: A generalized biochemical deficiency of the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is the inborn error in gyrate atrophy (GA), an autosomal recessive blinding disease of the retina and choroid of the eye. Because mutations in the OAT gene show a high degree of molecular heterogeneity in GA, the authors set out to determine the mutations by rapid and efficient methods. METHODS: The mutations in the OAT gene were determined by a combination of polymerase chain reaction (PCR) amplification of gene sequences, analysis by denaturing gradient gel electrophoresis (DGGE), and direct DNA sequencing. RESULTS: Eleven different mutations in 21 (95.5%) out of 22 mutant OAT alleles from 11 patients were identified: six missense mutations, three nonsense mutations, one 2 bp-deletion, and one splice acceptor mutation. A silent polymorphism of Asn (AAC)378 to Asn (AAT) was also observed. CONCLUSIONS. The combination of PCR amplification of the gene sequences, DGGE analysis, and direct sequencing is a rapid and efficient method for detection of mutations in GA cases. The diversity of the mutations attests to the enormous genetic heterogeneity in this disease.

Alleles↗
PubMed1993

Relation between preoperative CT findings in rectal cancer and local recurrence rate. A pilot study.

To identify predictive factors of local recurrence possible to use as criteria for preoperative radiotherapy, we reviewed the CT scans of 51 patients undergoing curative resection for rectal cancer. Seven patients developed local recurrence. The presence of the CT images of spicular structures or a fibrous soft tissue layer around the rectum was related to extrarectal spread with a positive predictive value of 88% (30/34) when compared with the pathology. Six out of 34 cases with these CT findings developed recurrence, compared to only one out of 17 cases without such findings. The recurrence rate was especially high, (4/14), in patients where the abnormal tissue as judged by CT was attached to the perirectal fascia or extended beyond it. CT may be a useful tool for predicting local recurrence by using the perirectal fascia as a diagnostic marker.

Adult↗
PubMed1993

A multicenter study of typical retinitis pigmentosa in Japan.

A nationwide, multicenter study of typical retinitis pigmentosa was carried out in collaboration with 13 university hospitals throughout Japan. A total of 253 patients, 122 males and 131 females, with a wide range of ages (mean 48 years), were registered during a two-month period in 1989. Determination of inheritance pattern revealed 30.2% autosomal recessive cases, 15.4% autosomal dominant, 0.5% X-linked, and 48.9% simplex, indicating a relative decrease in autosomal recessive cases and a relative increase in simplex cases in recent decades. The age at onset, initial symptom, and visual functions including visual acuity, visual field and electroretinogram showed a marked interindividual variability, but statistical analysis demonstrated that visual defects progressed with increasing age and disease duration. A correlation between the phenotypic variation and the genetic type was observed. This survey of retinitis pigmentosa in Japan provides information for counseling and rehabilitation of patients and encourages basic and clinical research of this genetic disease.

Adolescent↗
PubMed1993

[Cerebrospinal fluid fistula following an operation of mediastinal schwannoma: a case report].

A 33-year-old man was operated for the mediastinal schwannoma. During the operation, the 9 th intercostal nerve was avulsed and revealed liquorrhea. Lyodura and fibrin glue was applied for sealing the site of dural defect. But post-operative course was not successful. So, we used the external cerebrospinal fluid drainage system. After this procedure, thoracic fluid from the chest tube was reduced and we could remove the chest tube in the 20th post operative day. This case indicates that in case of thoracotomy, it is difficult to expect easy closure of cerebrospinal fluid fistula under conservative therapy. Therefore it was considered that specific repair during the operation and spinal drainage in the post-operative early phase should be performed.

Adult↗
PubMed1993

[Expression of modified nucleoside, 1-methyladenosine in intraocular tumors and the retinas].

1-methyladenosine is one of the modified nucleosides, the levels of which are elevated in urine of patients with malignant tumors. We report herein immunohistological expression of 1-methyl-adenosine in tumor cells and retinas. Eight retinoblastomas, 4 malignant melanomas, two metastatic choroidal tumors, 3 retinal dysplasias, one intraocular hemorrhage and 5 normal eye retinas in human were examined. In addition, 8 experimental rabbit choroidal tumor XV2s, and 5 normal rabbit retinas were examined. 1-Methyladenosine was expressed in almost all malignant tumors and retinas with these tumors, while there was little expression in benign tumor cells, retinas with benign tumor and retinas in normal eyes. Results in rabbits were almost the same as in humans. Examination of expression of 1-methyladenosine is expected to be useful for the histological diagnosis of intraocular tumors.

Adenosine↗