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排序方式: 共有1601条查询结果,搜索用时 15 毫秒
61.
Shinkai Inoue Atsushi Ishii Goro Shirotani Makoto Tsutsumi Eiji Ohta Masatoshi Nakamura Toshiko Mori Takahito Inoue Gen Nishimura Atsushi Ogawa Shinichi Hirose 《Pediatrics international》2014,56(4):e26-e29
We report a boy with Desbuquois dysplasia type 1. He had the typical skeletal changes: a “Swedish key” appearance of the proximal femora; advanced carpal ossification and other distinctive features of the hand, including an extra‐ossification center at the base of the proximal phalanx of the index and middle fingers; dislocation of the metacarpophalangeal joint of the index finger; and bifid distal phalanx of the thumb. In addition, he presented with very severe prenatal growth failure, respiratory distress as a neonate, subsequent failure to thrive and susceptibility to airway infection, and sudden death in early childhood. Molecular analysis identified homozygous 1 bp deletion in the Calcium‐Activated Nucleotidase 1 gene (CANT1). To our knowledge, this is the first report of Desbuquois dysplasia type 1 in Japan. Our experience suggests potential lethality in the disorder. 相似文献
62.
63.
Fukami T Yoshizato T Mori T Yukitake K Miyake Y Kawarabayashi T 《Journal of perinatal medicine》2007,35(6):543-549
OBJECTIVE: To examine the obstetrical risk factors for death and brain injury among extremely-low-birth-weight (ELBW) infants (birth weight <1000 g). STUDY DESIGN: Study subjects were 121 ELBW infants born at a single tertiary perinatal center. Death among ELBW infants was considered to have occurred when subjects died within their corrected age of 40 weeks. In the sub-analysis of the 91 ELBW infants who survived their corrected age of 40 weeks, brain injury was defined as present when criteria based on ultrasound and/or MRI were substantiated. RESULTS: A birth weight of <800 g [adjusted odds ratio (OR), 14.57; 95% confidence interval (CI), 4.72-56.98], a younger gestational age of <26 weeks (adjusted OR, 4.64; 95% CI, 1.60-14.90), and a low Apgar score of <5 (adjusted OR, 3.88; 95% CI, 1.32-12.45) were significantly associated with death among ELBW infants. A maternal age of 30 years or older (adjusted OR, 3.71; 95% CI, 1.19-13.35) was only associated with brain injury among surviving ELBW infants. CONCLUSION: Obstetrical care should be aimed at preventing or predicting premature delivery especially at <26 weeks of gestation. 相似文献
64.
Akihiro Nakayama Jun Arai Yumi Otoyama Ikuya Sugiura Yoko Nakajima Atsushi Kajiwara Yuki Ichikawa Shojiro Uozumi Yuu Shimozuma Manabu Uchikoshi Masashi Sakaki Sakiko Tazawa Eisuke Shiozawa Toshiko Yamochi Masafumi Takimoto Hitoshi Yoshida 《Internal medicine (Tokyo, Japan)》2022,61(2):189
There are few case reports of hepatocellular carcinoma (HCC) metastasis to the skeletal muscle. A 78-year-old man developed a mass in the right shoulder. Washout of contrast medium during contrast-enhanced ultrasonography (CEUS) in both the primary HCC and the metastatic site was detected. Several nodules were scattered throughout the liver on an autopsy. In addition, the moderately differentiated HCC had metastasized to the right teres major muscle. Rare muscular metastasis should be considered if a hepatic tumor is moderately or poorly differentiated HCC. Early washout during CEUS is consistent with a pathological diagnosis of moderately or poorly differentiated HCC. 相似文献
65.
66.
Clinical characteristics and prognostic implications of NPM1 mutations in acute myeloid leukemia 总被引:15,自引:4,他引:15 下载免费PDF全文
Suzuki T Kiyoi H Ozeki K Tomita A Yamaji S Suzuki R Kodera Y Miyawaki S Asou N Kuriyama K Yagasaki F Shimazaki C Akiyama H Nishimura M Motoji T Shinagawa K Takeshita A Ueda R Kinoshita T Emi N Naoe T 《Blood》2005,106(8):2854-2861
Recently, somatic mutations of the nucleophosmin gene (NPM1), which alter the subcellular localization of the product, have been reported in acute myeloid leukemia (AML). We analyzed the clinical significance of NPM1 mutations in comparison with cytogenetics, FLT3, NRAS, and TP53 mutations, and a partial tandem duplication of the MLL gene (MLL-TD) in 257 patients with AML. We found NPM1 mutations, including 4 novel sequence variants, in 64 of 257 (24.9%) patients. NPM1 mutations were associated with normal karyotype and with internal tandem duplication (ITD) and D835 mutations in FLT3, but not with other mutations. In 190 patients without the M3 French-American-British (FAB) subtype who were treated with the protocol of the Japan Adult Leukemia Study Group, multivariate analyses showed that the NPM1 mutation was a favorable factor for achieving complete remission but was associated with a high relapse rate. Sequential analysis using 39 paired samples obtained at diagnosis and relapse showed that NPM1 mutations were lost at relapse in 2 of the 17 patients who had NPM1 mutations at diagnosis. These results suggest that the NPM1 mutation is not necessarily an early event during leukemogenesis or that leukemia clones with NPM1 mutations are sensitive to chemotherapy. 相似文献
67.
68.
Tanaka S Harada M Mine T Noguchi M Gohara R Azuma K Tamura M Yamada A Morinaga A Nishikori M Katagiri K Itoh K Yamana H Hashimoto T 《Journal of immunotherapy (Hagerstown, Md. : 1997)》2003,26(4):357-366
Identification of antigenic peptides expressed on cancer cells enables us to treat cancer patients with peptide-based immunotherapy. Although optimal protocols for peptide-based vaccines have not yet been elucidated, boosting the immune system could be a better approach than priming the immune system to elicit prompt and potent peptide-specific T-cell responses in cancer patients. With this possibility in mind, the authors undertook a clinical trial in which cancer patients were vaccinated with peptides (maximum 4) after confirmation of pre-existing peptide-specific cytotoxic T-lymphocyte (CTL) precursors in the periphery. Fourteen patients (seven with melanoma and seven with other types of cancer) positive for either HLA-A24 or HLA-A2 were enrolled in this study. Fourteen and 16 peptides were used to screen for HLA-A24+ and HLA-A2+ patients, respectively. The vaccination was well tolerated, and the only adverse effects were local pain and fever. Kinetic analysis revealed that peptide-reactive CTLs increased after peptide vaccination in 7 of 14 patients. Immunoglobulin G (IgG) reactive to the administered peptides was detected in 2 patients before vaccination, although it became detectable in 8 of the other 12 patients after the peptide vaccination. Stable disease for more than 6 months was observed in five patients (one with melanoma and four with other types of cancer); all of these patients showed increased levels of peptide-specific IgG. These results indicate that peptide vaccination of patients showing evidence of pre-existing peptide-specific CTL precursors can be applied in further clinical trials aimed at the treatment of melanoma and other types of cancer. 相似文献
69.
Hiroaki Sato Kentaro Kasai Toshiko Tanaka Toshiro Kita Noriyuki Tanaka 《Medical science monitor》2008,14(5):BR79-BR87
BACKGROUND: Hemorrhagic shock occasionally causes a fatal outcome following an outbreak of lung dysfunction, but the precise mechanism has not been clearly elucidated. Several studies have indicated that hemorrhagic shock causes a delayed vascular inflammatory decompensation and leads to inflammation-related organ dysfunction. Tumor necrosis factor (TNF)-alpha and interleukin (IL)-1beta are known as major proinflammatory cytokines that play an important role in excessive autolytic inflammation, finally inducing organ dysfunctions. In this study, the role of TNF-alpha and IL-1beta on lung dysfunction following hemorrhagic shock was examined by using FR167653, a potent inhibitor of TNF-alpha and IL-1beta production that acts by suppressing p38 mitogen-activated protein kinase (MAPK). MATERIAL/METHODS: Hemorrhagic shock was induced in anesthetized male rats by bleeding via a common carotid catheter for 20 minutes to 25% of total body blood volume without fluid resuscitation. Mean blood pressure, heart rate and arterial blood gas components were recorded up to 5 hours after the bleeding. The levels of TNF-alpha, IL-1beta and lactic dehydrogenase (LDH)-3 isozyme were measured in the serum of pulmonary venous blood. The lung tissue was excised for the assay of mRNA and for histopathological study. RESULTS: The expressions of mRNA for TNF-alpha and IL-1beta in the lung tissue and the concentrations of both cytokines in pulmonary serum increased after a hemorrhage. Inflammation-related injuries and function deterioration were observed in the lung following hemorrhagic shock. These hemorrhagic changes were inhibited by pretreatment with FR167653. CONCLUSIONS: TNF-alpha and IL-1beta play a key role in the development of inflammation-related lung dysfunction following hemorrhagic shock. Our model should be useful to explain the pathogenesis of lung dysfunction following hemorrhagic shock. 相似文献
70.
Yamana H 《Nihon Geka Gakkai zasshi》2002,103(4):376-380
Recent progress in gene technology has clarified the existence of some cancer-rejection genes and peptides such as MAGE, MART, etc. Many clinical trials with cancer vaccines have been performed. Since the clinical efficacy of HLA class I-restricted peptide vaccines is still poor, many researchers are mainly administering dendritic cell therapies. However, there have been few clinicals trials of cancer-specific immunotherapy for esophageal carcinomas. We have performed cancer vaccine therapy with SART-1 peptide and locoregional adoptive immunotherapy with activated autologous lymphocytes for patients with advanced esophageal carcinoma in a phase I and a phase I/II trial, respectively. The clinical responses were poor in the vaccine trial because of the rapid growth of esophageal cancers and the requirement for more than 2 months to activate and increase killer T cells after in vivo vaccination, while locoregional adoptive immunotherapy was effective for the treatment of esophageal cancers even in advanced stages with organ metastases. Based on these results, we think that a combination immunotherapy with adoptive immunotherapy and vaccine therapy is needed for the treatment of advanced esophageal carcinomas. 相似文献