Objective:To identify the clinical phenotypes, diagnosis, and treatment of five children with DiGeorge syndrome finally diagnosed by gene, with review of the literature.Methods:The clinical data of five children with DiGeorge syndrome admitted to our hospital were collected and sorted out. Copy number variation sequencing (CNV-seq) based on next generation sequencing (NGS) technology was used to diagnose the genetic etiology of the children. The relationship between phenotypes and genotype among these five children were emphatically compared.Results:The five children collected in this study were all younger than 6 months. The course of the disease was more than 2 months to 1 year. Most of the first symptoms were convulsions and/or repeated infection. All of them had different degrees of growth retardation, with or without special facial features, epilepsy, congenital heart disease, etc. The similar blood ionized calcium levels revealed hypocalcemia, but the frequency and severity of convulsions were different. The copy number variation of chromosome 22q11.21 was detected in all these five children, and the deletion fragment was between 2.56-2.6 Mb, which was mostly coincident with the classical deletion region of DiGeorge syndrome (chr22: 19009792-21452445) recorded in Decipher database. One case was suggested to be a novel mutation, and the rest were of unknown origin.Conclusions:DiGeorge syndrome has great clinical heterogeneity. CNV-seq based on NGS technology is not only conducive to accurate genetic etiological diagnosis, but also helpful for understanding the corresponding relationship between clinical phenotype and genotype of hereditary syndrome, improving clinicians′ understanding and avoiding misdiagnosis.

Objective To understand the current situation and influencing factor of information needs in nursing administrators , so as to seek the effective methods and ways to meet their needs and improve their information ability .Methods Sixty-eight nursing administrators were surveyed by the self -designed questionnaire about the demographic data , the contents, the ways and barriers of information needs and so on .Results The percent of nursing administrators who often participated in the training of management related knowledge and information retrieval were respectively 23.5% and 1.5%.The information needs in daily work is mainly the business management (38.3%) and professional knowledge and skills (36.8%).The contents of information needs in nursing administrators were mainly the nursing quality management (42.6%), final cost management (23.5%) and management psychology (22.1%).The analysis of the location of searching the information showed that the cases of nurses who searched the information in the library , department , home and internet bar were respectively 58 (85.3%),3 (4.4%),27 (39.7%),2 (2.9%).The main obstacles to search the information were respectively the poor level of computer (3,4.4%), the poor level of English (44,64.7%), the lack of time (32,47.1%) and the lack of retrieval knowledge (28,41.2%).Conclusions The information needs in nursing administrators is mainly the information of increasing the quality of nursing management , and the main factors on affecting the needs were the level of English and the knowledge of literature retrieval .The management departments should strengthen the training of nursing administrators , and the library should play its functions to meet the needs of nursing administrators .