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排序方式: 共有380条查询结果,搜索用时 31 毫秒
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Shigeki Ohgitani Akimitsu Miyauchi Yasuyuki Takagi Yoshio Fujii Takuo Fujita Misa Nakamura Zhi-qiang Zhang Liang Shan Mitsuyo Sasaki Ryuichi Tsukino Toyoharu Yokoi Kennichi Kakudo Tomitaka Nakayama Junya Toguchida Hiroshi Kanoe Shinichi Aizawa Masao S. Sasaki Takashi Nakamura M. Suda K. Tanaka Y. Ogawa N. Tamura A. Yasoda H. Itoh M. Uehira N. Nishimoto T. Takigawa K. Shiota K. Nakao 《Journal of bone and mineral metabolism》1997,15(3):165-171
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Renske Oegema George McGillivray Richard Leventer Anne‐Gaëlle Le Moing Nadia Bahi‐Buisson Angela Barnicoat Simone Mandelstam David Francis Fiona Francis Grazia M. S. Mancini Sanne Savelberg Gijs van Haaften Kshitij Mankad Maarten H. Lequin 《American journal of medical genetics. Part C, Seminars in medical genetics》2019,181(4):627-637
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M. Espeel F. Roels L. Van Maldergem D. De Craemer G. Dacremont R. J. A. Wanders T. Hashimoto 《Virchows Archiv : an international journal of pathology》1991,419(4):301-308
Summary A boy born to healthy, unrelated parents, presented at birth with hypotonia and seizures. Very long chain fatty acids in the plasma were strongly elevated; bile acid intermediates and plasmalogen biosynthesis were normal. Acyl-CoA oxidase activity was normal. The patient died at the age of 3 months. The cerebellum and medulla oblongata showed neuronal migration defects. The specific biochemical basis for the impaired peroxisomal-oxidation has not been found. The three immunoreactive peroxisomal- oxidation enzymes and catalase were localized in the hepatocellular peroxisomes. Aberrant features of the peroxisomes included: a subpopulation of organelles larger than 1 m, an amorphous nucleoid in many organelles, and invaginations of the peroxisomal membrane into the matrix. Peroxisomes in the proximal renal tubules also contained the three immunoreactive-oxidation enzymes. Regularly spaced trilamellar inclusions were seen in hepatic macrophages; they were much more abundant in adrenocortical macrophages. The inclusions were birefringent and resistant to acetone extraction. Distinct hepatic fibrosis had developed over a period of 2.5 months. We speculate that the impaired-oxidation is due to a defect at the level of the peroxisomal carnitine octanoyl or -acetyl transferase, responsible for the export of-oxidation products. 相似文献
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中枢性性早熟是一种常见的儿童性发育异常性疾病,其发病机制暂不明确。环指蛋白3基因的功能丧失性突变是中枢性性早熟的重要致病因素。在目前已证实的中枢性性早熟相关致病基因中,环指蛋白3基因所致性早熟的发病率相对较高。本文综述了环指蛋白3基因的结构,突变,以及对于青春期时间可能的影响。 相似文献
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《Legal medicine (Tokyo, Japan)》2014,16(3):161-163
It has previously been shown, and reconfirmed here, that biological material on a substrate will transfer readily upon contact with another substrate when wet but hardly when dry. There is however a paucity of data regarding the speed at which body fluids dry and how this may affect its transfer upon contact. Here we conduct transfer experiments at 4 °C, 22 °C and 40 °C at multiple time points during the drying process. The speed at which blood dries is dependent on the temperature, with the drying process complete within 15–60 min. The percentage of deposited DNA transferred upon contact follows an exponential pattern of decline from soon after deposition, decreasing until the sample is dry. There are no differences in transfer rates upon contact among the different temperature conditions within the first 5 min or after 60 min since deposit, but significant variation occurs between these time points. When considering the likelihood of a proposed scenario that incorporates one or more contact situations it is important to consider the timing of the potential transfer event(s) relative to when the biological sample in question was initially deposited. The results of this study will assist the interpretation and evaluation of alternative scenarios involving transfer of biological substances. 相似文献
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《Allergologia et immunopathologia》2017,45(1):63-68
BackgroundParthenolide is the active constituent of the plant ‘Tanacetum parthenium’ (Feverfew) which has been used for centuries as a folk remedy for inflammatory conditions.Aim of the studyIn this study we aimed to investigate the effects of parthenolide in a murine model of chronic asthma.Materials and methodsThirty-five BALB/c mice were divided into five groups; I (control), II (placebo), III (dexamethasone), IV (parthenolide) and V (dexamethasone and parthenolide combination). Lung histology was evaluated after treatment with the study drugs. Levels of interleukin (IL)-4 and IL-5 were determined by ELISA.ResultsHistologic parameters except the number of mast and goblet cells improved in the parthenolide group when compared with placebo. All parameters except basal membrane thickness and number of mast cells were improved significantly better in the group receiving dexamethasone when compared with the parthenolide group. Improvement of most of the histologic parameters was similar in Groups III and V. Interleukin-4 levels were significantly reduced in the parthenolide group when compared to the placebo group.ConclusionWe demonstrated that parthenolide administration alleviated some of the pathological changes in asthma. But parthenolide alone is not efficient as dexamethasone therapy and the parthenolide and dexamethasone combination also did not add any beneficial effect to the dexamethasone treatment. 相似文献
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《The American journal of emergency medicine》2019,37(11):2102-2106
ObjectiveThe purpose of this study was to evaluate the feasibility and diagnostic benefit of point-of-care ultrasound (PoCLUS) in children with non-cardiac respiratory distress or tachypnea.MethodsIn this prospective observational study, children aged between 1 month and 18 years with respiratory distress, tachypnea, or both, at triage were included. Concordance and accuracy of the emergency department (ED) and ultrasound diagnoses, length of stay, and time elapsing until ED and ultrasound diagnoses were calculated.ResultsOne hundred forty-five patients were evaluated. The mean age of the children in the study was 67 ± 58 months. Seventy-nine patients (56%) were boys. Mean length of stay in the ED was 124.6 ± 76.5 min. Mean time to ultrasound diagnosis was 29.32 ± 15.71 min, compared to 46.75 ± 32.65 min for ED diagnosis, which was significantly longer (p < 0.001). Concordance between ultrasound and ED diagnoses was almost perfect for pneumonia, acute bronchiolitis, asthma and croup (0.8 < Ƙ < 1), and good for other non-pulmonary causes (0.6 < Ƙ < 0.8). Overall concordance for all diagnoses was also good (Ƙ = 0.76). Ultrasound diagnosis was more sensitive than ED diagnosis for pneumonia, acute bronchiolitis, and other non-pulmonary causes (81.4%–74.42%; 97.3%–86.49%; and 100%–95.83%, respectively). In addition, ultrasound diagnosis was more specific than ED diagnosis for pneumonia, acute bronchiolitis and other non-pulmonary causes (100%–97.35%; 99.07%–98.15%; and 93.39%–88.43%, respectively). However, ultrasound and ED diagnoses exhibited similar sensitivity and specificity values for asthma (97.22%–97.22%; and 99.08%–100%).ConclusionPoCLUS may constitute a beneficial and rational approach in the evaluation of children with increased work of breathing in the ED, and can also expedite the diagnostic process. 相似文献