Genetic basis of surfactant dysfunction in Chinese children: A retrospective study

2019 ◽  
Author(s):  
Jiehua Chen ◽  
Guangmin Nong ◽  
Xiuyun Liu ◽  
Wei Ji ◽  
Deyu Zhao ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Genetic Basis ◽  
Chinese Children ◽  
Surfactant Dysfunction

Clinical Characteristics and Genetic Analysis of Interstitial Lung Disease in Chinese Children (Genes and Interstitial Lung Disease)

2021 ◽  
Author(s):  
Mei-Xia Huang ◽  
Lu Qin ◽  
Fei-Zhou Zhang ◽  
Lei Wu ◽  
Jia-Hui Yu ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Clinical Characteristics ◽  
Clinical Manifestations ◽  
Failure To Thrive ◽  
Surfactant Protein ◽  
Chinese Children ◽  
Common Mutation ◽  
Onset Age ◽  
Surfactant Dysfunction

Abstract BackgroundMutation in the surfactant protein C gene (SFTPC) is a cause of interstitial lung disease (ILD). Our objective was to investigate the clinical characteristics, outcome and influencing factors of ILD in Chinese children with SFTPC mutations.MethodA total of 8 Chinese children with ILD heterozygous for SFTPC mutations that were treated in our hospital from January 2014 to December 2020 were included in our study. Candidate genes responsible for surfactant dysfunction were sequenced by next-generation sequencing. The clinical and genetic data were reviewed retrospectively.ResultsThe children’s onset age was before the age of 2 years, and one case was just after birth. The most significant clinical manifestations were cough, tachypnea, hypoxemia and failure to thrive. The most common mutation was p. lle73Thr, which accounted for 87.5% (7/8) of our patients. Four patients whose onset was within 3 months, including 3 children with CMV infection, died. Conclusionp. lle73Thr mutation of SFTPC was an important and common cause of ILD in the Chinese children. The clinical manifestations of ILD associated with this mutation are not specific. The severity and outcome of the disease may be affected by factors such as onset age and viral infection.

scholarly journals Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study

2017 ◽  
Vol 17 (1) ◽  
Author(s):  
Jia-Qi Li ◽  
Yi-Ling Qiu ◽  
Jing-Yu Gong ◽  
Li-Min Dou ◽  
Yi Lu ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Liver Failure ◽  
Acute Liver Failure ◽  
Chinese Children

Sexual Abuse in Chinese Children in Hong Kong: A Review of 134 Cases

1992 ◽  
Vol 26 (4) ◽  
pp. 639-643 ◽  
Author(s):  
T. P. Ho ◽  
F. Lieh Mak
Keyword(s):  
Sexual Abuse ◽  
Hong Kong ◽  
Retrospective Study ◽  
Chinese Children ◽  
Male Victims ◽  
The West ◽  
Younger Age ◽  
Low Prevalence

This is a retrospective study of 134 cases of sexual abuse in Chinese children aged 16 years or under in Hong Kong. The data with respect to the victim's age, sex, severity and type (intra- or extrafamilial) of abuse, perpetrator's characteristics and family disturbances were analysed. The overall profile is similar to that reported in the West. The reasons for the apparently low prevalence, younger age of victim and low proportion of male victims are discussed.

scholarly journals Therapeutic Drug Monitoring and Nephrotoxicity of Teicoplanin Therapy in Chinese Children: A Retrospective Study

2020 ◽  
Vol Volume 13 ◽  
pp. 4105-4113
Author(s):  
Dan Sun ◽  
Tao Zhang ◽  
Jie Mi ◽  
Yuzhu Dong ◽  
Yang Liu ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Therapeutic Drug Monitoring ◽  
Drug Monitoring ◽  
Chinese Children ◽  
Therapeutic Drug

scholarly journals Epstein-Barr Virus (EBV) Infection in Chinese Children: A Retrospective Study of Age-Specific Prevalence

PLoS ONE ◽  
2014 ◽  
Vol 9 (6) ◽  
pp. e99857 ◽  
Author(s):  
Geng Xiong ◽  
Bo Zhang ◽  
Mu-yun Huang ◽  
Hufeng Zhou ◽  
Li-zhen Chen ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Epstein Barr Virus ◽  
Chinese Children ◽  
Barr Virus ◽  
Ebv Infection ◽  
Epstein Barr
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