浅色脂溢性角化症特殊皮肤镜表现一例

患者，女，57岁。躯干部白色丘疹3年。本例皮肤镜表现独特之处在偏振光浸润模式下与典型脂溢性角化病不同，由于色素减退，皮沟与皮嵴表现为浅褐色背景下放射状分布亮白色线状条纹，呈珊瑚样结构。     

Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high‐risk Chinese individuals

Identification of deleterious variants in hereditary breast and ovarian cancer (HBOC) susceptibility genes allows for increased clinical surveillance and early detection, and could predict the response to poly (ADP‐ribose) polymerase (PARP) inhibitor in patients with advanced ovarian carcinomas. To determine the prevalence and clinical prediction factors for HBOC syndrome, 882 selected individuals underwent multigene panel testing for HBOC risk assessment during the period from January 2015 to March 2018. Overall, 176 deleterious mutations were observed in 19.50% (n = 172) of individuals. Twenty‐six of 176 mutations could not be retrieved in related public databases and were considered to be novel. Among patients with ovarian cancer, 115 deleterious mutations were identified in 429 patients (48.6%) with significant enrichment for a family history of breast or ovarian cancer syndrome (P < .05). In the breast cancer subgroup, 31 deleterious mutations were identified in 261 patients. Besides BRCA1 (8; 25.8%) and BRCA2 (11; 35.5%), the most frequently occurring genes, an additional 12 deleterious mutations (38.7%) were found in seven other susceptibility genes. Higher mutation incidence (57.9%) was observed in subjects with histories of breast and ovarian cancer. Our results highlighted the genetic heterogeneity of HBOC and the efficiency of a multigene panel in carrying out risk assessment.     

起搏治疗遗传性长QT间期综合征23例

目的:评价VVI起搏治疗遗传性长QT综合征的疗效. 方法:对23例有尖端扭转性室速发作,且经正规药物治疗无效或无法耐受的遗传性长QT综合征患者,植入了VVI起搏器.随访这23例患者术后心电图及心脏事件发生率. 结果:QT间期平均值由术前(638.0±55.7)ms缩短至术后的(471.3±48.9)ms,QTc平均值为由0.627±0.07缩短至0.519±0.06.心脏事件的发生率由术前的(0.353±0.46)次/年降至术后(0.111±0.24)次/年,(P=0.039).其中77.5%的患者随访期间无晕厥或猝死等心脏事件发生.90.91%患者存活.2例患者因尖端扭转性室速恶化为室颤抢救无效死亡. 结论:VVI起搏治疗可以有效地减少长QT综合征患者恶性心律失常的发生,是治疗长QT综合征的重要方法之一.