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Heterozygous nonsense mutations near the C‐terminal region of IGF1R in two patients with small‐for‐gestational‐age‐related short stature 下载免费PDF全文
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T Fujita H Mori Y Osaki M Minowa S Ishihara N Masuda Y Hanzawa C Mori T Nanba H Ohta 《[Nihon kōshū eisei zasshi] Japanese journal of public health》1992,39(9):687-695
A case-control study was conducted to examine factors relating to discontinuation of domiciliary care for the bedridden elderly in Shinagawa-ku, Tokyo. Cases were bedridden residents aged 65 years and over who had abandoned home care and applied for admission to live in a special nursing home for the aged between April and September in 1990 after being recipients of welfare allowances for disabled elderly. Controls were bedridden residents who continued to be given home care and matched to cases by sex, age and beginning month of the receiving of allowances. Among 50 cases and 94 controls interviewed, we obtained responses from 31 cases (62%) and 60 controls (64%). The main results were as follows: 1. During the home-care period, ADL (activities of daily living) of cases, especially walking ability, deteriorated more severely than in controls. Night delirium also appeared more frequently in cases. 2. The primary caregivers of cases were older than those of controls. Remarkable differences between cases and controls were observed in the family structure, the number of family members and the number of sub-caregivers. Cases tended to live alone or live with a spouse only, and with smaller number of family members and caregivers. 3. Case lived more frequently in houses with small numbers of rooms and without rooms of their own. 4. As regards utilization of domiciliary care services, cases used dispatch of home helpers more frequently and used day services less frequently. 相似文献
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BACKGROUND: The authors prospectively and longitudinally studied changes in optic disc topography during spontaneous reduction of intraocular pressure (IOP) in five monkeys with experimental glaucoma, using a computerized image analyzing system (Topcon IMAGEnet). METHODS: Glaucomatous optic neuropathy was produced in one eye of each animal by repeated argon laser photocoagulation of the trabecular meshwork. The duration of follow-up was 12 months. After laser treatment, IOP fluctuated and tended to increase. Spontaneous reduction in IOP was frequently observed during follow-up. Changes in optic disc parameters (vertical and horizontal cup-to-disc ratios, rim area/disc area, cup volume/disc area) that accompanied a given magnitude of spontaneous reduction in IOP at the early stage of glaucoma (first 4 months of follow-up) were compared with those at the later stage of glaucoma (last 4 months of follow-up). RESULTS: All optic disc parameters improved significantly during IOP reduction at each stage of glaucoma. Although there was no significant difference between the two stages in the magnitude of IOP reduction, the extent of improvement in each disc parameter was significantly less in the later stage than in the early stage. In both stages, reversal of cupping occurred symmetrically in the vertical and horizontal dimensions. Expansion of the cup occurred symmetrically in the early stage, but this was predominantly vertical in the later stage. CONCLUSION: These results suggest that the extent of cupping reversal after IOP reduction may decrease with progressive glaucomatous damage in primate glaucoma. 相似文献
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Yuka Sakazume Makoto Tanaka Itsuo Isobe Rika Tominaga Eiji Nanba Koichi Okamoto 《Clinical neurology》2004,44(8):541-544
We reported a patient with middle-aged onset sialidosis type I. A 52-year-old Japanese man was referred to our hospital because of dysarthria, involuntary movement of his extremities and gait disturbance since the age of 46 years. On admission, neurological examination revealed scanning speech, action myoclonus, cerebellar ataxia and cherry-red spots. Vacuolated lymphocytes were found in peripheral blood. Brain 18F-2-fluoro-2-deoxy-D-glucose positron emission tomography (18F-FDG PET) showed decreased glucose metabolism in the cerebellum. Enzymological analysis using his skin fibroblasts revealed primary deficiency of sialidase activity. Sialidase gene analysis identified compound heterozygotes for base substitusions of 239T-to-C and 649G-to-A, which resulted in amino acid alterations of P80L and V217M, respectively. These mutations have been reported in Japanese sialidosis type II (P80L) and I (V217M). Further studies are required to reveal effects of gene mutations on residual enzyme activities and phenotypes. 相似文献
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Zhang H Yamamoto T Nanba E Kitamura Y Terada T Akaboshi S Yuasa I Ohtani K Nakamoto S Takeshita K Ohno K 《American journal of medical genetics》1999,82(5):368-370
A Japanese patient with tuberous sclerosis (TSC), who manifested with multiple lung cysts and pneumothorax, is described. All exons of two TSC genes, TSC1 and TSC2, in peripheral blood leukocytes from the patient were analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). A novel T-to-G transition was found in exon 19 of TSC2 at nucleotide position 2168. This mutation caused an amino acid change, L717R. There was no such mutation in any other family members or in 100 normal Japanese. An automated sequencer-assisted quantitative analysis of normal and mutated SSCP-bands revealed no loss of heterozygosity (LOH) in the lung cyst tissue of the patient. 相似文献
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In 14 cases of hairy cell leukemia unique vascular lesions not previously reported were observed in surgically resected spleens and hepatic biopsies. In all 14 spleens there were variably prominent distended spaces filled with erythrocytes and resembling dilated sinuses. These structures appeared to be lined by hairy cells,and studies utilizing histochemical and enzymatic methods confirmed that they were in fact pseudosinuses lacking the endothelial cells and ring fibers of normal splenic sinuses. These changes were not present in normal spleens or in spleens involved by other types of chronic leukemia, and appear to be qualitatively specific for hairy cell leukemia. In three of five hepatic biopsies similar angiomatous lesions were present in multifocal clusters resembling hemangiomas. Their pathogenesis may be related to possible adherence of hairy cells to reticulum fibers in involved tissues. 相似文献
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Pigs exposed to fluctuating temperatures (high, 30 +/- 2 degrees C; low, 4 +/- 1 degrees C) were intranasally inoculated with Aujeszky's disease virus (ADV). ADV-infected pigs, exposed to the fluctuating temperatures, showed severe clinical signs and ADV in the nasal secretions persisted longer than in the ADV-infected control pigs kept at the normal temperature (20 +/- 2 degrees C). High concentrations of ADV were isolated from nasal secretions on the 1st day after inoculation of the virus. Pathologically, all ADV-infected pigs had non-suppurative encephalitis and trigeminal ganglionitis. The lesions were more widely distributed in pigs exposed to fluctuating temperatures than in infected control pigs. Two infected pigs given the stress had severe malacic foci in the frontal lobe and four of them had prominent interstitial pneumonia. In the pigs exposed to fluctuating temperatures, a significant number of immunoglobulin-containing cells, especially IgM-containing cells, did not respond to ADV infection. A significant (P < 0.01) difference in the number of IgG- and IgM-containing cells was observed between the ADV-infected pigs exposed to the fluctuating temperature and ADV-infected control pigs, respectively. These results demonstrated that the stress of fluctuating temperatures enhanced the susceptibility to ADV infection. 相似文献
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