[Visual evoked potentials by patterned stimuli].
Explore the source record for details and available documents.
Adolescent↗
Biomedical subjects
N Ohba
Publications and source records attributed to N Ohba.
Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa.
A nationwide, multicenter study of typical retinitis pigmentosa (RP) was carried out in collaboration with 18 hospitals throughout Japan to obtain current information for genetic counseling. We analyzed the genetic heterogeneity of RP based on the parental consanguinity of 434 probands registered during a 6-month period in 1990. A gradual decline in the frequency of consanguineous marriage was recognized among the normal parents of RP patients. The relative frequencies of inheritance patterns were estimated as: autosomal recessive, 25.2%; autosomal dominant, 16.9%; X-linked, 1.6%; and simplex, 56.3%. A comparison of these results with previous reports in Japan revealed a decline in the relative frequency of autosomal recessive cases and an increase in simplex cases. This suggests a decrease in the incidence of autosomal recessive retinitis pigmentosa in Japan, as well as the necessity for exhaustive investigations aimed at identifying inheritance patterns for RP patients seeking genetic counseling.
Adolescent↗
Multicenter genetic study of retinitis pigmentosa in Japan: II. Prevalence of autosomal recessive retinitis pigmentosa.
Retinitis pigmentosa (RP) is a group of genetically heterogeneous diseases with autosomal recessive (AR), autosomal dominant, and X-linked modes of inheritance. Autosomal recessive retinitis pigmentosa (ARRP) is the most common form in Japan. A genetic analysis was done to determine the prevalence of ARRP indirectly, to provide an estimation of changing trends in the overall prevalence of RP. Data on the frequency of consanguinity and marriage year of normal parents of 59 ARRP patients were obtained from a nationwide multicenter survey of typical retinitis pigmentosa conducted in 1990. The gene frequency of ARRP was 0.01145 (Dahlberg's formula). In 1990, the number of young symptomatic ARRP patients decreased, while the number of patients aged 40 years and older increased. The total number of symptomatic ARRP patients in 1990 was nearly 21% higher than in 1970. Despite a dramatic decline in consanguinity in recent decades in Japan, the number of ARRP patients has increased. This increase is attributed to greater longevity and overall population growth. Our results suggest that the total number of RP patients has not decreased, and may even have increased.
Adolescent↗
Immunohistochemical localization of MUC1 glycoprotein in the retina.
Explore the source record for details and available documents.
Biomarkers, Tumor↗
Glycopathological study of eyelid tumors and pseudotumors.
The expression of MUC1, Tn (GalNAc alpha 1-O-Ser/Thr) and sialosyl Tn (STn) (NeuAc alpha 2,6 GalNAc alpha 1-O-Ser/Thr) antigens, which are useful markers for the prognosis of cancer in other organs, was examined immunohistochemically in a series of 45 eyelid tumors and 5 pseudotumors: basal cell carcinoma, 18; squamous cell carcinoma, 11; sebaceous gland carcinoma, 6; seborrheic keratosis, 4; papilloma, 3; verruca vulgaris, 2; nevus, 1; and granuloma, 5. The MUC1 antigen was identified in all squamous cell and sebaceous gland carcinomas, but not in basal cell carcinoma or the benign tumors. The Tn antigen was expressed in all the sebaceous gland, half of the squamous cell, and only rarely in the basal cell carcinomas. The STn antigen was expressed in all seborrheic keratosis and in the majority of squamous cell carcinomas, but only rarely in sebaceous gland and basal cell carcinomas. Eyelid tumors are frequently associated with apomucin and mucin-carbohydrate antigens: the MUC1 glycoprotein appears to be related to the malignant potential of eyelid tumors, and may be a useful marker for the differential diagnosis of invasive tumors, including sebaceous gland and squamous cell carcinomas.
Adult↗
Analysis of peripherin/RDS gene for Japanese retinal dystrophies.
We studied 133 Japanese patients with retinal dystrophies to detect peripherin/RDS (retinal degeneration slow) gene defects. The patients analyzed included 52 with autosomal dominant retinitis pigmentosa, 36 with autosomal recessive retinitis pigmentosa, 3 with simplex retinitis pigmentosa, 12 with cone-rod dystrophy, 5 with rod-cone dystrophy, 3 with vitelliform macular dystrophy (Best's disease), 4 with macular dystrophy, 2 with cone dystrophy, 2 with fundus flavimaculatus, 2 with fundus albipunctatus, and 12 with retinitis pigmentosa with macular degeneration as well as 40 unrelated normal persons. Three exons of the peripherin/RDS gene cut into 150-200 base-pair fragments were amplified by polymerase chain reaction and screened by single-strand conformation polymorphism. The DNA fragments with any suspected variations were directly sequenced. Eight point mutations were detected. Among them, two missense mutations at codons 304 and 338 result in an amino acid substitution of glutamine for glutamic acid and aspartic acid for glycine, respectively. However, they were not cosegregated with the diseases, and these mutations were also commonly found in normal controls. For these controls, the proportion of transversion from G to C at codon 304 (GAG-->CAG) and transition from G to A at codon 338 (GGC-->GAC) were 0.192 +/- 0.045 and 0.173 +/- 0.053, respectively. Our results suggest that a peripherin/RDS gene mutation might be rare in Japanese patients.
DNA↗
A case of non-Hodgkin's lymphoma following long-term corticosteroid therapy for Addison's disease.
A 76-year-old Japanese woman had suffered from fatigue, weight loss, and cutaneous hyperpigmentation at the age of 38 years and was diagnosed as having tuberculous Addison's disease. Since then, corticosteroids had been administered effectively as hormonal replacement. At the age of 75 years, the patient presented with a progressive, painless swelling in the left eyelid due to an ill-defined tumor of rubbery consistency in the superotemporal aspect of the orbit. Computed tomography, magnetic resonance imaging, and scintigraphy revealed a wide distribution of tumors, but not in the adrenal gland, which led to the suspicion of systemic malignant lymphoma. Histopathologic examination of the excised orbital tumor was compatible with non-Hodgkin's lymphoma of the B-cell type. We believe this is the first report of Addison's disease presenting with non-Hodgkin's lymphoma. This disease process was characterized by the development of a lymphoid malignancy after long-term corticosteroid therapy to control the adrenal insufficiency, and by the widespread involvement of the lymph nodes and orbit but not the adrenal gland. Corticosteroid-induced abnormal immune state was considered to be the pathogenesis of this unusual complication.
Addison Disease↗
Gray-white, spherical deposition on retinal vessel associated with acute retinal necrosis and diabetic retinopathy in HTLV-I carriers.
Tiny, gray-white, spherical deposits were found on the retinal vessels and vitreoretinal interface of the fovea in a 55-year-old woman with acute retinal necrosis due to varicella-zoster virus, and in a 47-year-old man with preproliferative diabetic retinopathy. Both patients developed massive vitreous opacities due to uveal inflammation or hemorrhages that rendered the fundus difficult to visualize. A therapeutic vitrectomy revealed gray-white, tiny spherical deposits, about blood-vessel-diameter, which were scattered on seemingly intact retinal arteries and veins in the posterior fundus and over the vitreoretinal interface overlying the fovea. The deposits were loosely adherent to vessel walls and were easily aspirated, and the residual materials resolved in the early postoperative days. These characteristic retinal vascular deposits resembled those seen in patients with HTLV-I associated uveitis. The two patients reported herein were otherwise asymptomatic carriers of HTLV-I. The findings provide additional information about the etiological role of HTLV-I in the development of characteristic retinal vascular deposition, although its pathogenesis remains to be elucidated.
Carrier State↗
Extensive chorioretinal atrophy in Vogt-Koyanagi-Harada disease.
PURPOSE: To report extensive chorioretinal atrophy during the long-term course of Vogt-Koyanagi-Harada (VKH) disease not treated properly in the initial phase. CASES: Four patients with VKH disease were examined more than 10 years after onset of the disease. OBSERVATIONS: They presented initially with classic features of VKH disease, except 1 patient who had developed bilateral, acute angle-closure glaucoma as the initial sign. Two patients received systemic corticosteroid therapy at the acute phase of the disease. During the follow-up of 13-34 years subsequent to onset, these patients had chronic recurrent anterior uveitis with apparently stable depigmented fundus. Eventually, they developed diffuse, extensive chorioretinal atrophy that resulted in severe visual loss. One patient had an unusual familial occurrence of the disease. CONCLUSIONS: Failure to prescribe proper corticosteroid therapy in the initial phase of VKH disease may lead to chronic recurrent uveitis. Long-standing uveitic reactions may eventually result in severe visual loss due to extensive chorioretinal degeneration.
Aged↗
Multicenter clinical trial for evaluating methylprednisolone pulse treatment of idiopathic optic neuritis in Japan. Optic Neuritis Treatment Trial Multicenter Cooperative Research Group (ONMRG).
BACKGROUND: A randomized, controlled clinical trial was conducted in 1991 to compare an intravenous megadose of methylprednisolone with a control drug (mecobalamin) for treating acute idiopathic optic neuritis. CASES: Sixty-six cases from 22 clinical centers throughout Japan were examined to evaluate the treatment on visual function parameters, such as visual acuity, visual field, color vision, contrast sensitivity, and critical flicker frequency. OBSERVATIONS: The methylprednisolone pulse treatment group showed faster recovery of visual function, particularly the visual acuity at 1 week (P<.05), Humphrey field analyzer mean deviation at 3 weeks (P<.05), and color vision at 1 week (P<.05). Recovery of contrast sensitivity at several different spatial frequencies was significant in the pulse treatment group at 1 (P<.01), 2 (P<.05), and 4 weeks (P<.05) after the start of treatment. Visual function test results at 12 weeks and 1 year were essentially the same in the two treatment groups. Side effects appeared more frequently in the pulse treatment group than in the control (P<.05). CONCLUSIONS: Pulse treatment does not appear effective for idiopathic optic neuritis even though visual function in the pulse treatment group of this trial recovered more quickly during the initial phase compared to the controls. More effective and specific treatment should be established for optic neuritis.
Adolescent↗
Baseline features of idiopathic optic neuritis as determined by a multicenter treatment trial in Japan. Optic Neuritis Treatment Trial Multicenter Cooperative Research Group (ONMRG).
BACKGROUND: An optic neuritis treatment trial was conducted at 30 clinical centers in Japan using the same protocol. Patient participation was based on: age range of 14-55 years; acute symptoms indicative of unilateral optic neuritis of unknown or demyelinating origin; visual symptoms of 14-day duration or less; relative afferent pupillary defect in affected eye; and normal or swollen optic disc of affected eye. CASES: Initially, 102 patients qualified for participation; baseline data were obtained for analysis from 70 of these patients. Demographic characteristics of Japanese patients with optic neuritis were clarified and compared with those in a US study. OBSERVATIONS: The incidence of ocular or periocular pain and the presence of periventricular plaques were noted to be lower, and the incidence of disc swelling higher, in the Japanese patients, suggesting racial differences in the characteristics of the disease. Such differences may possibly be related to the lower incidence of multiple sclerosis in Japanese patients. The results of visual function tests were virtually the same in both studies. The nonaffected eyes of more than half the patients showed abnormal mean deviation in Humphrey field analysis, as also noted in the US study. CONCLUSIONS: The baseline clinical features of optic neuritis in the Japanese patients have been defined. Some racial differences in the characteristics of the disease may exist.
Adolescent↗
Clinical course of HTLV-I-associated uveitis.
PURPOSE: To define the long-term clinical course and visual outcome of human T-cell lymphotrophic virus type I (HTLV-I)-associated uveitis (HAU). METHODS: We reviewed the clinical data on 96 eyes of 70 patients, 26 men and 44 women, with HAU, with specific reference to recurrence of the disease and long-term visual outcome. The mean follow-up period was 83 months (range, 12-276 months). RESULTS: The mean age of onset was 42.8 years (range, 7-78 years of age), with men presenting at a significantly younger age. Forty-seven patients had isolated HAU; in 10 patients, HTLV-I-associated myelopathy occurred before or after the onset of HAU; in 14 patients, hyperthyroidism had preceded HAU. A single episode of mild to moderate acute uveal inflammation with resolution in a few weeks or more occurred in 44 (62.9%) patients, and multiple episodes in 26 (37.1%), with a mean interval of 16 months (range, 1-250 months), which affected the same eye, fellow eye, or both. The majority of patients had favorable visual outcome at the last examination, whereas only a few patients suffered poor vision resulting from steroid cataract and retinochoroidal degeneration. CONCLUSIONS: The clinical course of HAU is virtually benign and its visual outcome is favorable, although its recurrence is common. The uveitis is usually isolated and affects a portion of otherwise unremarkable HTLV-I carriers, but it may sometimes be manifest as a symptom of syndromic diseases such as HTLV-I-associated myelopathy or hyperthyroidism. This study describes for the first time cases of HAU that occurred many years before manifestation of HTLV-I-associated myelopathy.
Adolescent↗
Sorsby's fundus dystrophy in two Japanese families with unusual clinical features.
PURPOSE: To describe two Japanese families with Sorsby's fundus dystrophy (SFD) with unusual clinical features. METHODS: Two families from Kagoshima Prefecture with senile-onset macular dystrophy were examined. Three affected individuals through three successive generations of one family and three affected siblings in another family were examined and followed. RESULTS: The initial symptom of these patients was a rapid or slow central visual loss that occurred at an average age of 67.4 years. The major ophthalmoscopic changes consisted of soft drusen and hemorrhagic or atrophic lesions in the macula, which were progressive and ultimately led to disciform scarring. They had no difficulty with night vision. All the patients had normal peripheral retina with intact peripheral fields. They maintained good ambulatory vision and could walk unguided until late in life. These patients had a novel mutation in the tissue inhibitor of the metalloproteinases-3 (TIMP3) gene. CONCLUSIONS: This is the first report of SFD from the East. Its clinical features differ from those of SFD patients of the West, appearing closer to features of age-related macular degeneration. These two unrelated Japanese families with an identical mutation in the TIMP3 gene might be descendants of a common ancestor who carried the mutant gene.
Aged↗
Mechanism of growth-inhibitory effect of cisplatin on human pancreatic cancer cells and status of p53 gene.
Pancreatic cancer is a devastating malignant tumor in humans and the development of new modalities of treatment is needed. We studied the mechanism of the growth-inhibitory effect of cisplatin (CDDP) on human pancreatic cancer cells in connection with the status of the p53 gene and expression of the bcl-2 family. COLO-357 cells with wild-type p53 gene and T3M4, Panc-1 and AsPC-1 cells with mutant-p53 gene were used. Growth of these cells was inhibited by CDDP in a dose-dependent manner in both serum-deprived and serum-supplemented conditions. CDDP induced apoptosis of COLO-357 and T3M4 cells in the serum-supplemented condition, whereas necrosis of these cells was induced by CDDP at high concentrations in the serum-deprived condition. Although expression of bax mRNA and its protein product were enhanced, while bcl-2 protein was decreased by CDDP in COLO-357 cells, expression of mRNA of the bcl-2 family and protein product were not influenced by CDDP in T3M4 cells. Increased expression of bax and reduced expression of bcl-2 are involved in the growth-inhibitory effect of CDDP on pancreatic cancer cells with wild-type p53 gene.
Antineoplastic Agents↗