1.Synthesis and preliminary anti-diabetic activity evaluation of novel PEGylated GLP-1 receptor agonists
Yan LIU ; Chengye LI ; Xingguang CAI ; Lidan SUN ; Wenlong HUANG
Journal of China Pharmaceutical University 2018;49(5):558-567
In order to obtain glucagon-like peptide-1(GLP-1)analogs which can sustainedly control the levels of glucose, 12 derivatives were designed and synthesized by coupling monomethoxy polyethylene glycol(mPEG, with average molecular weights of 350, 550 and 750)to GLP-1 analogs. Preliminary pharmacological activities showed that all compounds retained GLP-1 receptor agonist activities, and the hypoglycemic activity of compound I-12 was similar to those of Ex-4 and Liraglutide, suggesting I-12 could be a potential long-acting GLP-1 receptor agonist.
2.Characterization of genetic variants in children with refractory epilepsy.
Kaixuan WANG ; Dandan CAI ; Fang SHENG ; Dayan WANG ; Xubo QIAN ; Jing ZHANG ; Xueyan JIANG ; Lidan XU ; Yanting XU
Chinese Journal of Medical Genetics 2023;40(10):1204-1210
OBJECTIVE:
To analyze the characteristics of genetic variants among children with refractory epilepsy (RE).
METHODS:
One hundred and seventeen children with RE who had presented at the Affiliated Jinhua Hospital of Zhejiang University School of Medicine from January 1, 2018 to November 21, 2019 were selected as the study subjects. The children were divided into four groups according to their ages of onset: < 1 year old, 1 ~ 3 years old, 3 ~ 12 years old, and >= 12 years old. Clinical data and results of trio-whole exome sequencing were retrospectively analyzed.
RESULTS:
In total 67 males and 50 females were included. The age of onset had ranged from 4 days to 14 years old. Among the 117 patients, 33 (28.21%) had carried pathogenic or likely pathogenic variants. The detection rates for the < 1 year old, 1 ~ 3 years old and >= 3 years old groups were 53.85% (21/39), 12.00% (3/25) and 16.98% (9/53), respectively, with a significant difference among the groups (χ2 = 19.202, P < 0.001). The detection rates for patients with and without comorbidities were 33.33% (12/36) and 25.93% (21/81), respectively (χ2 = 0.359, P = 0.549). Among the 33 patients carrying genetic variants, 27 were single nucleotide polymorphisms (SNPs) or insertion/deletions (InDels), and 6 were copy number variations (CNVs). The most common mutant genes were PRRT2 (15.15%, 5/33) and SCN1A (12.12%, 4/33). Among children carrying genetic variants, 72.73% (8/11) had attained clinical remission after adjusting the medication according to the references.
CONCLUSION
28.21% of RE patients have harbored pathogenic or likely pathogenic variants or CNVs. The detection rate is higher in those with younger age of onset. PRRT2 and SCN1A genes are more commonly involved. Adjusting medication based on the types of affected genes may facilitate improvement of the remission rate.
Infant
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Female
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Male
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Humans
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Child
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Infant, Newborn
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Child, Preschool
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DNA Copy Number Variations
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Drug Resistant Epilepsy/genetics*
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Retrospective Studies
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Polymorphism, Single Nucleotide
3.Approach to the patient with Klinefelter syndrome combined with neuropsychological abnormality
Lidan SHI ; Liangchun CAI ; Rongmei LU ; Wei LIN ; Huibin HUANG ; Jixing LIANG ; Liantao LI ; Junping WEN ; Lixiang LIN ; Gang CHEN
Chinese Journal of Endocrinology and Metabolism 2018;34(4):330-335
Klinefelter syndrome(KS) is the most common sex chromosome disorder in males,which is caused by the presence of the extra X chromosome that maybe inherited from mother or father. Approximately 80% karyotype of the cases is 47,XXY. KS is characterized by small firm testes, hypergonadotropic hypogonadism, infertility,gynaecomastia, increased height. However, cognitive disabilities and psychiatric disorders are rarely diagnosed in KS because they lack screening in related aspects. At the present, the pathogenesis of cognitive disabilities and increased risk of psychiatric diseases in KS have not been delineated. In this article,we report two cases of KS,and review their clinical manifestations,diagnosis,and treatments.
4.The mediating effects of self-control and rumination between neuroticism and insomnia in college students
Jia YU ; Kezhi LIU ; Xiaojiao ZHENG ; Lidan CAI ; Hui WU ; Huaihong A ; Bin ZHANG ; Shuai LIU
Chinese Journal of Behavioral Medicine and Brain Science 2020;29(8):682-686
Objective:To explore the mediating effects of self-control and rumination between neuroticism and insomnia in college students.Methods:A cross-sectional survey was conducted among 767 college students from a university in Sichuan province with Chinese big five personality inventory-15, insomnia severity index, ruminative responses scale, and self-control scale.Results:The prevalence of insomnia was 36.6% among college students.The scores of neuroticism (9.63±3.41), rumination (22.27±5.44) and ISI (6.61±4.28) were positively correlated with each other ( r=0.281-0.389, P<0.01), while each of them was negatively correlated ( r=-0.453--0.194, all P<0.01) with self-control (60.71±9.41). Analysis of mediating effects revealed that neuroticism not only directly affected insomnia, but also indirectly affected insomnia through the mediating effects of rumination and self-control respectively. Conclusion:Self-control and rumination have mediating effects between neuroticism and insomnia in college students.