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991.
992.
A trial of molecular diagnosis in Leber's optic neuropathy 总被引:1,自引:0,他引:1
F Ara Y Hotta M Hayakawa K Yanashima A Kanai K Fujiki 《Nippon Ganka Gakkai zasshi》1991,95(8):715-720
The high frequency of mitochondrial DNA mutation at the nucleotide position (nt) 11,778 was reported in cases of Leber's hereditary optic neuropathy (LHON) after the first report by Wallace et al.. We already reported that it provided a simple diagnostic test by means of PCR (polymerase chain determined the diagnosis of LHON in a case. No nt 11,778 mutation was found in patients with the other optic nerve diseases and in normal controls. This shows the usefulness of molecular diagnosis in LHON. Problems of genetic counselling for patients and female carriers and the possibilities to clarify the cause of LHON were discussed. 相似文献
993.
H Nakano A Suzuki H Tojima M Imahashi T Kashiyama A Watanabe K Mizuguchi T Kanai H Shinozaki K Kamei 《Nihon Kyōbu Shikkan Gakkai zasshi》1989,27(7):842-847
Two cases of Hermansky-Pudlak syndrome with interstitial pneumonia were reported. Both patients had evidence of pulmonary involvement characterized by diffuse bilateral infiltrates. They had oculocutaneous albinism. Case 1 was a 55 year-old female who had a history of easy bruising. Her two sisters were albino and had died of pulmonary fibrosis. One of them was diagnosed as Hermansky-Pudlak syndrome on autopsy. Bone marrow aspirate disclosed typical macrophages with ceroid-like pigment. Transbronchial lung biopsy showed alveolar wall thickening. Lumi-aggregometer showed a decrease of platelet aggregation and an absence of ATP release. Case 2 was a 43 year-old female and had a bleeding tendency during a surgical procedure. Lumi-aggregometer showed normal platelet aggregation but an absence of ATP release. BALF analysis did not disclose macrophages with ceroid-like pigment. 相似文献
994.
Masaaki Konagaya Motoko Sakai Tadashi Wakayama Seigo Kimura Satoshi Kuru Fumihiko Yasuma 《Clinical neurology》2005,45(9):643-646
We have been introducing the intermittent positive pressure ventilation (IPPV) therapy in Duchenne muscular dystrophy (DMD) since 1990. Then, the changes of life-span and causes of mortality by IPPV were investigated in this study. The subjects were 157 patients of long-term followed up DMD in our hospital. The Kaplan-Meier's survival curve of 73 IPPV treated patients showed a median survival time of 31.0 years of age, whereas that of 20.4 years in 84 patients not treated by IPPV. The actual mean age of death in 29 IPPV treated patients was 25.68 +/- 5.18 years-old (M +/- SD), which was significantly higher than that in 74 patients with not-IPPV treated of 19.76 +/- 3.47. The IPPV treatment changed the major causes of death; 59.5% to 3.5% for respiratory failure, 12.2% to 37.9% for cardiac failure, and 0% to 10.3% for repiratory trouble. There were certain number of patients who died of repiratory infection, respiratory tract disorder, digestive organ disorders and sudden death. Thus, IPPV therapy is significantly effective for prolongation of life-span in DMD, and it seems to be necessary to establish the treatment strategy for cardiac failure and other potentially fatal complications. 相似文献
995.
996.
997.
A Japanese family of Nettleship Falls X-linked ocular albinism 总被引:1,自引:0,他引:1
A family with Nettleship Falls X-linked ocular albinism (NFXOA) was reported. The funduscopic examination revealed that both the male proband case and his maternal male cousin with nystagmus and amblyopia had macular hypoplasia and slightly less pigmented fundus than normal Japanese, and the carrier female (proband's mother) had the characteristic pigmentary mosaicism of the fundus. The slitlamp biomicroscopic examination revealed that the proband case's iris was less pigmented and the carrier female had the normal coloured iris. Translucency was not found in the iris of either the proband case or the carrier female. Hypopigmented maculas were found on the skin of the proband case. Histopathological findings of the cutaneous tissue of both the proband case and the carrier female showed macromelanosomes in the epidermis. The diagnosis of NFXOA is considered to be difficult by ocular clinical signs in the case of Japanese male patients without both characteristic albinotic fundus and the mother's pigmentary mosaicism of the fundus. Macromelanosomes recognized by skin biopsy are helpful for diagnosis. 相似文献
998.
Rectal mucosal prolapse syndrome and a bidet 总被引:1,自引:0,他引:1
999.
1000.
K Kanai S Morioka T Nakajima H Ishii K Tamakoshi H Matsuda M Matsumoto N Mizushima Y Takehira 《Gastroenterologia Japonica》1988,23(1):44-48
Twelve male patients with chronic hepatitis B were treated by the combination of recombinant human alpha-interferon and cyanidanol. They received 3 million units of interferon twice a week and 2,250 mg of cyanidanol daily for 24 weeks. Four patients had sustained clinical improvement in which hepatitis B e antigen and DNA polymerase disappeared from sera and aminotransferase activities fell to normal levels. Elevated pretreatment aminotransferases were associated with the response to therapy. Also, decreased number of OKT4-positive cells prior to treatment were observed among responders. Side effects were minimal and all patients tolerated treatment on an outpatient basis. Twice weekly administration of recombinant leukocyte interferon with cyanidanol may be effective in treating chronic hepatitis when patients are appropriately selected. 相似文献