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排序方式: 共有791条查询结果,搜索用时 15 毫秒
1.
Y Makino S Ueda M Ogawa J Hori M Ohto M Wakashin E Tanabe 《Ryūmachi》1992,32(4):340-5; discussion 345-6
Sweet's syndrome (acute febrile neutrophilic dermatosis) is an unusual condition characterized by fever, polymorphonuclear neutrophil leukocytosis of the blood, thick painful plaques on the face, neck and limbs, and a dense dermal infiltrate of mature neutrophils seen histologically. Recently, this disease has also been reported in association with various malignant neoplasms and chronic inflammatory disorders. In the literature, seven cases of Sweet's syndrome associated with collagen diseases have been reported, but no cases with mixed connective tissue disease (MCTD). The first case of Sweet's syndrome associated with MCTD was herein described and discussed. A 49-year-old man was admitted to our hospital with the complaints of high fever and painful erythema on his face, neck and limbs. Six months ago, MCTD was suspected, with the presence of limited cutaneous sclerosis of the hands, Raynaud's phenomenon, polyarthralgia, an elevation of CPK value and a positive anti-RNP antibody. Just before hospitalization, he suffered a prodromal infection of the upper respiratory tract for two weeks. He was diagnosed as Sweet's syndrome by the clinical and histological features. He began receiving corticosteroid therapy (prednisolone 60 mg/day), and within a week he showed dramatic improvement in the above symptoms. 相似文献
2.
Naoshi Kaneko Tatsuyuki Muratake Hideki Kuwabara Takanori Kurosaki Mitsuru Takei Tsuyuka Ohtsuki Tadao Arinami Shoji Tsuji Toshiyuki Someya 《American journal of medical genetics. Part B, Neuropsychiatric genetics》2007,(6):735-742
We analyzed a large multiplex schizophrenia pedigree collected in mid-eastern Japan using 322 microsatellite markers distributed throughout the whole autosome. Under an autosomal-dominant inheritance model, the highest pairwise LOD score (LOD = 1.69) was found at 4q (D4S2431: theta = 0.0), and LOD scores at two other loci 3q (ATA34G06) and 8q (D8S1128) were 1.62 and 1.46, respectively. In multipoint analysis, LOD scores of the regions on 4q and 3q remained at a similar level; however, the LOD score of the region on 8q apparently decreased. Additional dense map analysis revealed haplotypes on 4q and 3q regions shared by affected individuals. On chromosome 4q, the haplotype spanning about 8 centiMorgans (cM) was shared by four of six genotyped individuals with schizophrenia and one affected individual whose haplotype was estimated. On 3q, the haplotype spanning about 20 cM was shared by five genotyped individuals with schizophrenia. We obtained two candidate regions of major susceptibility loci for schizophrenia on chromosomes 3q and 4q. 相似文献
3.
Masataka Takemiya Satoshi Shiraishi Tatsuyuki Teramoto Yoshiharu Miki 《Clinical genetics》1987,31(1):35-44
A 38-year-old Japanese male with Bloom's syndrome (BS) and porokeratosis of Mibelli (PM) developed multiple carcinomas of the skin and lung. There were multiple, spontaneous chromosomal aberrations and frequent sister chromatid exchanges (SCE). Cutaneous delayed-type hypersensitivity reactions were defective and serum IgM was decreased. The lung cancer was treated with radiation, which was effective but caused a severe pulmonary atelectasis and esophageal stricture. The patient expired one-and-a-half years later because of pneumonia. Autopsy disclosed an adenocarcinoma of the colon. The concurrent PM was considered responsible for the occurrence of multiple skin cancers. 相似文献
4.
Yukiko Nakazono Kenji Tsujikawa Kenji Kuwayama Tatsuyuki Kanamori Yuko T. Iwata Kazuna Miyamoto Fumiyo Kasuya Hiroyuki Inoue 《Forensic Toxicology》2014,32(1):154-161
In recent years, a large number of tryptamine-based designer drugs have been encountered in forensic samples. We have developed simultaneous analytical methods for 14 tryptamine analogues using gas chromatography–mass spectrometry (GC–MS) and liquid chromatography–tandem mass spectrometry (LC–MS–MS). Trimethylsilyl (TMS) derivatives of the analytes were separated on a DB-1ms column within 15 min. The structural isomers could be differentiated by electron ionization GC–MS. LC–MS–MS with a C18 column could separate structural isomers of tryptamines except for a combination of 5-methoxy-N,N-diethyltryptamine and 5-methoxy-N-methyl-N-isopropyltryptamine. Higher collision energy gave different product ion spectra between the structural isomers. The results indicate that GC–MS is the first choice for identification of tryptamines, preferably after TMS derivatization, and LC–MS–MS can be used as a complementary approach for the unequivocal differentiation of tryptamine isomers. 相似文献
5.
6.
Kinuyo Kawabata Makoto Uchikawa Hitoshi Ohto Hiroyasu Yasuda Hatsue Tsuneyama Hideaki Tsuchida Shoichi Ito 《Transfusion medicine reviews》2014,28(1):23-28
We encountered a broadly reactive red cell alloantibody in 1991, reacting unlike any other known antibody, and named it anti-KANNO after the first patient. A total of 28 cases of anti-KANNO in the Japanese literature were reviewed. To distinguish KANNO from other antibodies against high-frequency antigens, including anti-JMH, anti-Ch/Rg, and anti-Jra, we conducted serologic studies with proteolytic enzyme and chemical treatments, complement sensitization against red cells, and serum neutralization techniques. Reactivity of anti-KANNO against red cells lacking high-frequency antigens and antisera to high-frequency antigens against KANNO cells were tested. Among the 28 patients, 26 were female, of whom 25 had a history of pregnancy. Red cells from patient KANNO were reactive with antisera against antigens of high frequency. Anti-KANNO reacted weakly with all cells known to lack high-frequency antigens. It reacted with 2-aminoethylisothiouronium bromide, so it can be distinguished from anti-JMH. Differences among anti-KANNO, anti-Ch/Rg, and anti-Jra emerged with enzyme-treated cells, complement-sensitized cells, and the addition of normal serum. As yet, there are no reports of hemolytic transfusion reaction or hemolytic disease of the fetus and newborn attributable to anti-KANNO. It appears that anti-KANNO is a newly characterized antibody more likely stimulated by pregnancy than by transfusion and with little or no clinical significance. Further surveillance and investigation of anti-KANNO, its antigen biochemistry, and its genetics are warranted. 相似文献
7.
Kuwayama Kenji Miyaguchi Hajime Kanamori Tatsuyuki Tsujikawa Kenji Yamamuro Tadashi Segawa Hiroki Okada Yuki Iwata Yuko T. 《Forensic Toxicology》2022,40(2):215-233
Forensic Toxicology - Since the 1980s, the detection sensitivity of mass spectrometers has increased by improving the analysis of drugs in hair. Accordingly, the number of hair strands required for... 相似文献
8.
Tsujikawa Kenji Okada Yuki Segawa Hiroki Yamamuro Tadashi Kuwayama Kenji Kanamori Tatsuyuki Iwata Yuko T. 《Forensic Toxicology》2022,40(1):125-131
Forensic Toxicology - Various forms of cannabidiol (CBD)-containing products are sold in Japan. CBD is easily converted to mixtures of ?9-tetrahydrocannabinol (?9-THC) and its isomer,... 相似文献
9.
Atsushi Morita Takashi Enokizono Tatsuyuki Ohto Mai Tanaka Shiena Watanabe Yui Takada Kazuhiro Iwama Takeshi Mizuguchi Naomichi Matsumoto Masashi Morita Shigeo Takashima Nobuyuki Shimozawa Hidetoshi Takada 《Brain & development》2021,43(3):475-481
Peroxisomal acyl-CoA oxidase (ACOX1) deficiency is a rare autosomal recessive single enzyme deficiency characterized by hypotonia, seizures, failure to thrive, developmental delay, and neurological regression starting from approximately 3 years of age.Here, we report two siblings with ACOX1 deficiency born to non-consanguineous Japanese parents. They showed mild global developmental delay from infancy and began to regress at 5 years 10 months and 5 years 6 months of age respectively. They gradually manifested with cerebellar ataxia, dysarthria, pyramidal signs, and dysphasia. Brain MRI revealed T2 high-intensity areas in the cerebellar white matter, bilateral middle cerebellar peduncle, and transverse tracts of the pons, followed by progressive atrophy of these areas.Intriguingly, the ratios of C24:0, C25:0, and C26:0 to C22:0 in plasma, which usually increase in ACOX1 deficiency were within normal ranges in both patients. On the other hand, whole exome sequencing revealed novel compound heterozygous variants in ACOX1: a frameshift variant (c.160delC:p.Leu54Serfs*18) and a missense variant (c.1259 T > C:p.Phe420Ser). The plasma concentration of individual very long chain fatty acids (C24:0, C25:0, and C26:0) was elevated, and we found that peroxisomes in fibroblasts of the patients were larger in size and fewer in number as previously reported in patients with ACOX1 deficiency. Furthermore, the C24:0 β-oxidation activity was dramatically reduced.Our findings suggest that the elevation of individual plasma very long chain fatty acids concentration, genetic analysis including whole exome analysis, and biochemical studies on the patient’s fibroblasts should be considered for the correct diagnosis of ACOX1 deficiency. 相似文献