电子病案（electronic medical record，EMR）也称计算机化的病历系统或基于计算机的患者记录（computer-based patient record，CPR），是用电子设备保存、管理、传输和重现的数字化患者医疗记录。电子病案是以患者为中心的信息集成与相关服务，不仅包括患者全部的临床信息，还包括丰富的医学知识以及联机服务。电子病案主要记录患者的病情状况、治疗依据、治疗过程及治疗结果等信息，大部分以文档的形式存储于计算机中。电子病案库应是一个集医学、计算机科学、信息学、系统工程学及声像为一体的复杂的综合性系统工程。
Tooth agenesis constitutes one of the most common developmental anomalies in man. Oligodontia is defined as congenital absence of six or more teeth. Based on the studies of our team in cooperation with Peking University Center for Human Disease Genomics in the past five years, this article reviews the current research progress in clinical phenotypes and case collection, epidemiological investigation and etiological genetic studies of oligodontia. The symptoms of oligodontia were classified into syndromic and non-syndromic according to the occurrence of tooth agenesis with or without systemic developmental defects. As for the advancement of theories and techniques of molecular genetics, a number of gene mutations have been identified to be the direct etiological factors causing some specified diseases, especially those with developmental defects. Here, this article summarized the outcomes of molecular genetic study of some cases we collected. Of the systemic oligondontia patients, a new four-base-deletion mutation in PITX2 was identified in a large kindred with typical symptoms of Rieger Syndrome; four different gene mutations in ED1 casing X-linked hypohidrotic ectodermal displasia were found in five nucleus families. Compared with the former, non-syndromic oligodontia has more genetic heterogeneity rather than some specific virulence gene. PAX9 and MSX1 are the identified genes associated with family tooth agenesis without systemic syndrome. Also, in our research, three gene mutations in CBFA1 were detected in four cleidocranial dysplasia families, which is a systemic developmental disease including the symptoms of tooth eruption abnormality and accessory teeth.
