Diagnosis and treatment of Shwachman-Diamond syndrome in Chinese children: An evidence-based study / 中华医学遗传学杂志

OBJECTIVE@#To explore the characteristics of Shwachman-Diamond syndrome (SDS) in Chinese children in order to provide a reference for early diagnosis.@*METHODS@#With Shwachman-Diamond syndrome, SDS, SBDS gene and inherited bone marrow failure as the keywords, the search period was set from January 2002 to October 2022. Relevant literature was retrieved from the Wanfang Database and China National Knowledge Infrastructure (CNKI) database. In addition, by using Shwachman-diamond syndrome as a keyword, the search period was also retrieved from the Web of Science, PubMed, and MEDLINE databases from January 2002 to October 2022. A child with SDS treated at the Tongji Hospital was also included. A total of 44 cases with complete clinical data were analyzed with reference to the International Standard for SDS Diagnosis. Chi-square test and t test were used for statistical analysis. Evidence-based research was carried out in the form of systematic review. The epidemiology, clinical characteristics and key points of early diagnosis of the Chinese SDS children were summarized and compared with the international data.@*RESULTS@#The main characteristics of SDS in Chinese children were summarized as follows: The ratio of males to females was about 1.3 : 1, the median age of onset was 3 months, and the median age of diagnosis was 14 months. The first symptoms were often exocrine pancreatic insufficiency (31.8%) and granulocytopenia with infection (31.8%). According to the international consensus, the incidence rates of the three major diseases of SDS were hemocytopenia (95.4%), pancreatic disease (72.7%), and bone abnormality (40.9%). The common factors underlying SDS disease were variants of the SBDS gene (c.258+2T>C and c.183_184TA>CT), albeit there was no significant correlation between genotype and phenotype (P > 0.05). Compared with international reports, the clinical manifestations and genotypes of Chinese SDS children are different (P < 0.05).@*CONCLUSION@#The SDS children have an early age of onset and significant individual difference. It is necessary to analyze the case-related data to facilitate early recognition, diagnosis and clinical intervention.

The practice and thinking on the standardized training of pediatric residents / 中华医学教育探索杂志

The standardized training for pediatric residents is a necessary route to promote their clinical ability and make them grow up.With the aim to improve the residents' basic theory,clinical skills and medical quality,we set up training plans according to the requirement of standardized training in shanghai,earnestly implement the related training in the process of training content,method,time node and stage appraisal system,formulating personalized training plan and implementing one to one teaching.Besides,we attach importance to the cultivation of scientific research and teaching ability of residents and set up a perfect evaluation system.Residents are required to obtain a certificate of training through the unified comprehensive examination before graduation.Here,the problems existing in the process of pediatric resident standardization training and preliminary countermeasures are also discussed.