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围生期柠檬素缺乏的影响:新生儿柠檬素缺乏普查可行性
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作者 Tamamori a fujimoto a. +1 位作者 Okano Y. 虎小毅 《世界核心医学期刊文摘(儿科学分册)》 2005年第2期61-62,共2页
由于SLC25A13基因突变而引起的柠檬素缺乏常导致成年人Ⅱ型瓜氨酸血症(CTLN2)和一种新生儿期肝内胆汁淤积(NICCD)。在新生儿普查(NMS)中,基于高半乳糖浓度、高苯丙氨酸浓度和(或)高蛋氨酸浓度,约有一半NICCD患者被发现。为了阐明围生期... 由于SLC25A13基因突变而引起的柠檬素缺乏常导致成年人Ⅱ型瓜氨酸血症(CTLN2)和一种新生儿期肝内胆汁淤积(NICCD)。在新生儿普查(NMS)中,基于高半乳糖浓度、高苯丙氨酸浓度和(或)高蛋氨酸浓度,约有一半NICCD患者被发现。为了阐明围生期和新生儿期的影响及NMS不一致的结果。 展开更多
关键词 围生期 肝内胆汁淤积 瓜氨酸血症 基因突变 血斑 出生后 氨基酸水平 突变频率 临床病程 总氨基酸
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首例由酒曲菌属非接合孢子引起的皮肤毛霉菌病
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作者 fujimoto a. Nagao K. +1 位作者 Tanaka K. 刘艳 《世界核心医学期刊文摘(皮肤病学分册)》 2005年第11期40-41,共2页
A rapidly enlarging leg ulcer appeared in a 54-year-old woman with systemic lupus erythematosus receiving aggressive immunosuppressive therapy. Skin biopsy revealed proliferation of hyphae in the midst of a neutrophil... A rapidly enlarging leg ulcer appeared in a 54-year-old woman with systemic lupus erythematosus receiving aggressive immunosuppressive therapy. Skin biopsy revealed proliferation of hyphae in the midst of a neutrophilic abscess. Culture yielded Rhizopus azygosporus. As no organ involvement was detected by thorough examination, the patient was diagnosed as having primary cutaneous mucormycosis. Although intravenous amphotericin B therapy seemed to be very effective, it had to be discontinued due to nephrotoxicity. She unfortunately died of subsequent disseminated fungal infection and cerebral infarction in which the primary cause could not be determined. Minimum inhibitory concentrations of several antifungal drugs to the isolate were examined and amphotericin B proved to be the only agent that may potentially reach the effective plasma concentration. This is the first case report of cutaneous mucormycosis caused by R. azygosporus. 展开更多
关键词 皮肤毛霉菌病 接合孢子 酒曲菌属 播散性真菌感染 嗜中性 皮肤活检 系统性红斑狼疮 二性霉素 粒细胞浸润 抗真菌药物
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