1.Research advances of PI 3 K/Akt/mTOR signaling pathway with its related gene mutations and the targeted therapy for endometrial cancer
Chuchu CAO ; Luren HUANG ; Fen FU
Basic & Clinical Medicine 2017;37(1):118-122
Endometrial cancer ( EC) is one of the most common gynecological cancer ,of which the molecular biolog-ical mechanisms is very complex .In recent years, it has been reported that the abnormally regulated PI 3K/Akt/mTOR signaling pathway is significantly related with endometrial cancer .The mutation and abnormal activation of the receptors and kinase of the PI 3 K/Akt/mTOR signaling pathway is a potential therapeutic target of endometrial cancer .
2.Case report of epileptic encephalopathy caused by a new mutation of cyclin-dependent kinase-like 5 gene
Chuchu GUO ; Xiaonan MAO ; Huijuan LI ; Zhaolan CAO
Chinese Journal of Applied Clinical Pediatrics 2021;36(16):1271-1274
Objective:To investigate the clinical characteristics, diagnosis and treatment status, and existing problems of early infantile epileptic encephalopathy type 2 (EIEE2) caused by de novoa mutation of cyclin-dependent kinase-like 5 gene (CDKL5).Methods:The medical history, auxiliary examination and diagnosis and treatment characteristics of 1 case with EIEE2 caused by de novoa mutation of CDKL5 gene in neonatal department of Children′s Hospital of Nanjing Medical University on August 12, 2019 were retrospectively analyzed.Combined with relevant literatures, the clinical diagnosis and treatment ideas and future prospects of this disease were summarized.Results:The patient was a female child with the age of 13 days and 23 hours.The main clinical manifestation was recurrent convulsion which was not alleviated significantly after using antiepileptic drug.The second-generation sequencing detected c. 119C>T/ p. A40V heterozygous mutation of CDKL5 gene, which was de novo mutation.Conclusions:EIEE2 caused by de novoa mutation of CDKL5 gene is a rare disease worthy of attention.Early detection and genetic diagnosis are the key to improve the diagnosis and treatment rate.