ABSTRACT
OBJECTIVE@#To analyze the clinical features and variants of ABCD1 gene in a Chinese pedigree affected with X-linked adrenoleukodystrophy.@*METHODS@#Clinical data of the proband were collected and analyzed. Potential variant of the ABCD1 gene were analyzed by PCR and Sanger sequencing of the proband, his parents and 100 unrelated healthy individuals.@*RESULTS@#The prominent features of the proband included cerebellar and brainstem lesions, along with increased serum level of very-long chain fatty acids. He was found to harbor a hemizygous c.1509delG (p.L504Sfs*54) variant of the ABCD1 gene, for which his mother was heterozygous. The same variant was not detected in his father and 100 healthy controls.@*CONCLUSION@#X-linked adrenoleukodystrophy has a variety of clinical manifestations. Discovery of the c.1509delG (p.L504Sfs*54), as a novel pathogenic variant of the ABCD1 gene, has enabled diagnosis and genetic counseling for this pedigree.
Subject(s)
Female , Humans , Male , Adrenoleukodystrophy/genetics , Asian People/genetics , China , Genetic Testing , Mutation , PedigreeABSTRACT
The TCM theory over body constitution has been greatly developed in the past several decades.However,the body constitution for children still lacks a standard classification.Available studies often ignored the impacts of the factors,such as region,climate and diet,on the body constitution of children.Given this situation,the present review focused on the research progress on the discipline of TCM body constitution and its classification and differentiation in Chinese children,and put forward the development on this issue based on current state policy and our own research experience.It was suggested that scholars develop a well-recognized classification method for the TCM body constitution for children in a particular region before investigating interventions according to TCM body constitution.
ABSTRACT
Objective To evaluate the efficacy and safety of Sheng-qi-zhuang-yang formula combined with specific immunotherapy (SIT) with standardized house dust mite vaccine on allergic asthmatic children. Methods Participants were 100 children with mild to moderate allergic asthma , who were receiving SIT at Guangdong Provincial Hospital of Chinese Medicine from Jan 2011 to Dec 2013 , who were divided into treatment group and control group. Patients in the treatment group received Sheng-qi-zhuang-yang Decoction combined with SIT while patients in the control group received SIT alone. Asthma symptom scores, respiratory function and related adverse events were compared before and after treatment, between groups. Results The desensitization treatment functions was ahead of time than expected in both groups. There is no significant difference between groups in terms of respiratory function and adverse effects. Conclusion Sheng-qi-zhuang-yang decoction combined with SIT for allergic asthmatic children seems to advance clinical effect without increasing adverse events. Further large scale clinical trial is required to confirm this.