Objective To analyze the clinical characteristics of Duchenne/ Becker muscular dystrophy (DMD/BMD)with the initial presentation of transaminase elevation,in order to improve the clinician's understanding of this disease,and reduce misdiagnosis and missed diagnosis. To investigate the relationship between the elevation of transami-nase and the early stage of DMD/ BMD,and to provide the strategy for early diagnosis. Methods Twenty - four pa-tients admitted to the hospital with elevated serum transaminase as the initial presentation from January 2012 to Decem-ber 2014,who were diagnosed as DMD/ BMD by genetic testing or muscle biopsy,were enrolled. Their clinical data and laboratory examinations were retrospectively analyzed,including clinical features,diagnostic steps,serum muscle en-zymes,genetic analysis,electromyography and muscle pathological changes. Results The 24 patients were all male without family history of DMD/ BMD prior to birth. The average visiting age was (3. 4 ± 1. 2)years (ranging from 0. 8 to 6. 1 years),and 87. 5％ (21 / 24 cases)of cases were preschool children aged 2 - 6 years. Hypertransaminasemia was found in 21 cases (87. 5％)during the kindergarten physical examination,1 case during pre - operative investigation and 2 cases during respiratory infection. Due to its insidious onset,the time interval between incidental finding of elevated transaminase and definitive diagnosis was between 0. 6 and 20. 4 months. Among them,16 cases (66. 7％)had obvious pseudohypertrophy of calf muscles,and 18 cases (81. 8％)showed different degrees of movement disorder,such as unable to jump,easy to fall,and difficulty in climbing stairs. In addition,18. 2％ cases (4 / 22 cases)had a delay in language development. The serum alanine aminotransferase and aspartate aminotransferase levels were 120. 3 - 761. 7 U/ L and 83. 3 - 675. 5 U/ L,respectively. Serum creatine kinase (CK)was found to be markedly elevated (ranging from 3940 to 27510 U/ L)in all patients. Electromyography showed myogenic damage in 13 / 23 cases (56. 5％). DMD gene deletions were found in 18 cases (75. 0％),and duplications in 4 cases (16. 7％). The muscle biopsy performed in 2 cases (8. 3％)multiplex ligation - dependent probe amplification (MLPA)- negative cases showed evidence of dystrophic features on routine histology. Immunohistochemistry showed absent dystrophin staining in all 2 MLPA - nega-tive cases. Conclusion The clinical manifestation of DMD/ BMD is not typical in the early stage,so it is easy to be neglected or misdiagnosed. Elevated ALT and AST are important clues in the early diagnosis of DMD/ BMD. Children with elevated transaminase,in the absence of other signs and symptoms of hepatic injury,may have occult muscular di-sease,most frequently DMD/ BMD. A thorough physical examination and history taking as well as the measurement of serum CK are helpful in the differential diagnosis. Genetic testing or muscle biopsy should be done early for correct diagnosis of DMD/ BMD.

欧阳洋，李娟娟，涂毅，孙圣荣（武汉大学人民医院 乳腺甲状腺外科，湖北 武汉 430060） [摘 要] 目的：借助多种癌症生物信息数据库研究乳腺癌组织中缺氧诱导因子1亚基α（HIF1A）的表达水平及其与乳腺癌患者预后及肿瘤免疫细胞浸润的关系。方法：利用Oncomine、人类蛋白质图谱、基因表达谱交互式分析（GEPIA）及TCGA数据库分析HIF1A基因在乳腺癌组织中的表达及其与患者预后、临床病理特征的关系，并在中国人乳腺癌组织标本（选用2011年1月至2015年12月中国武汉大学人民医院手术切除的93例乳腺癌组织和14例良性乳腺疾病组织）中进行验证。对HIF1A高低表达组间的差异基因进行基因本体（GO）和京都基因与基因组百科全书（KEGG）富集分析，用Cibersort R软件评估HIF1A高低表达样本中免疫细胞浸润丰度差异。结果：生物信息数据显示，HIF1A在乳腺癌组织中高表达，预示着患者DFS预后更好（P<0.05）。HIF1A的表达与雌激素受体（ERP）、孕激素受体（PR）和人表皮生长因子受体2（HER2）表达相关（均P<0.05）。GO生物功能及KEGG通路富集分析结果提示，HIF1A可能参与肿瘤免疫调节等生物活动。使用Cibersort分析结果显示，HIF1A与肿瘤免疫细胞浸润之间具有相关性（均P<0.01），发现活化记忆CD4 + T细胞、M0和M1型巨噬细胞与HIF1A表达呈正相关，在乳腺癌组织中高表达，Treg细胞、活化NK细胞、M2型巨噬细胞与HIF1A表达呈负相关（均P<0.01）。结论：HIF1A参与调节肿瘤微环境的免疫活性，与乳腺癌患者DFS相关，其可能成为乳腺癌分级诊断、免疫治疗和预后判断的生物标志物。