1.A case of oocyte maturation defect caused by homozygous of PATL2 gene c.1363C>T
Jia DENG ; Lyujun LIU ; Hualin HUANG ; Min LIU ; Xianghe MENG ; Jiaolei LIAO ; Aimin DENG ; Zenghui MAO
Chinese Journal of Reproduction and Contraception 2024;44(9):955-958
Oocyte maturation defect is an extremely rare primary infertility, which is characterized by ovum development arrest, oocyte complete fertilization failure, oocyte apoptosis before and after fertilization, and early embryonic development arrest. This case explored the genetic etiology of a primary infertility patient, who had no mature oocyte after two cycles of controlled ovarian hyperstimulation. Peripheral blood samples of the patient were collected for whole exome sequencing, the suspected pathogenic variants were screened by bioinformatics and verified by sanger sequencing on the patient and her parents. Results showed that the patient was found to harbor homozygous variant of the PATL2 gene, namely c.1363C>T (p.Gln455*). Sanger sequencing has verified that the parents are both heterozygous. The mutation of c.1363C>T is a rare pathogenic mutation that had not yet been recorded in HGMD database. In this case, PATL2 gene mutation can cause oocyte maturation arrest, it is recommended to use whole exome sequencing and genetic counseling as soon as possible for these patients, so as to select appropriate treatment.
2.A case of oocyte maturation defect caused by homozygous of PATL2 gene c.1363C>T
Jia DENG ; Lyujun LIU ; Hualin HUANG ; Min LIU ; Xianghe MENG ; Jiaolei LIAO ; Aimin DENG ; Zenghui MAO
Chinese Journal of Reproduction and Contraception 2024;44(9):955-958
Oocyte maturation defect is an extremely rare primary infertility, which is characterized by ovum development arrest, oocyte complete fertilization failure, oocyte apoptosis before and after fertilization, and early embryonic development arrest. This case explored the genetic etiology of a primary infertility patient, who had no mature oocyte after two cycles of controlled ovarian hyperstimulation. Peripheral blood samples of the patient were collected for whole exome sequencing, the suspected pathogenic variants were screened by bioinformatics and verified by sanger sequencing on the patient and her parents. Results showed that the patient was found to harbor homozygous variant of the PATL2 gene, namely c.1363C>T (p.Gln455*). Sanger sequencing has verified that the parents are both heterozygous. The mutation of c.1363C>T is a rare pathogenic mutation that had not yet been recorded in HGMD database. In this case, PATL2 gene mutation can cause oocyte maturation arrest, it is recommended to use whole exome sequencing and genetic counseling as soon as possible for these patients, so as to select appropriate treatment.
3.Clinical effect of intrauterine perfusion of autologous PBMCs combined with low molecular weight heparin in the treatment of postoperative intrauterine adhesions
Yi WEN ; Zenghui MAO ; Jun TANG ; Gehua KANG ; Liyuan ZHOU
Journal of Chinese Physician 2020;22(6):861-865
Objective:To investigate the assisted pregnancy clinical effect of autologous peripheral blood mononuclear cells (PBMCs) combined with low molecular weight heparin (LMWH) on patients with intrauterine adhesion separation.Methods:Nine patients with intrauterine adhesion separation were treated with intrauterine perfusion of PBMCs 48 hours before transplantation. The low molecular weight heparin 3 200 IU injected daily subcutaneously were carried out on the day of transplantation. Measurement of endometrial thickness and observation of pregnant outcome were perfomed.Results:After 9 patients were injected into the uterine cavity with autologous PBMCs. It was found that, compared to the previous, the thickness of the endometrium was increased, and the morphology of the endometrium was improved in 6 cases. After transplantation, 7 cases of the patients were clinically pregnant, 1 of the patients was biochemically pregnant, and 1 of the patients was not pregnant; among the 7 clinical pregnancy cases, 1 case was intrauterine compound pregnancy (operation on the affected side of fallopian tube pregnancy had been performed), another 2 cases had embryo termination at the 7-8th week of gestation by B-scan ultrasonography analysis. However, 3 cases of clinical pregnancy in 4 patients with repeated implantation failure. At present, 2 cases were in live labor, and the other three cases were in normal continuous pregnancy.Conclusions:Intrauterine perfusion of human PBMCs combined with low molecular weight heparin is beneficial to the improvement of endometrial receptivity and the pregnancy outcome of some patients after the separation of intrauterine adhesions.
4.Clinical teaching plans prepared with mind maps
Xuecheng JIANG ; Xiaobing WEN ; Zenghui WANG ; Yujing ZHANG ; Xuefei MAO
Chinese Journal of Medical Education Research 2013;(11):1151-1154
Clinical teaching plan of pneumothorax and hemorrhagic shock was prepared with mind maps. The process of making this teaching plan was demonstrated as follows:relationship among all levels of subjects in this course was manifested by text and graph as belong and relevance. It is sim-ple, smooth, focused, lucid and easy to understand and remember. Application of mind mapis ex-tremely simple;it is suitable for medical education and is conducive to enhancing teaching efficiency.
5.Discussion on video assessment integrated teaching method
Xuecheng JIANG ; Yun ZHU ; Xuefei MAO ; Yujing ZHANG ; Zenghui WANG
Chinese Journal of Medical Education Research 2013;(2):163-166
We innovated video assessment integrated teaching method on the basis of clinical case discussion,teaching rounds,problem-based learning,case method and micro teaching.According to this video feedback teaching,students became teaching subject and teacher acted as guide.In order to realize the purposes of early contact with clinical practice,more clinical practice and repeated clinical practice teaching,we implemented student-centered small class teaching,which was heuristic,inquisitive,interactive and was discussion-based.At the same time with the help of medical simulation equipment and video feedback teaching,this method developed students' life-long learning ability and work competence and combined theory with practice,demonstration with imitation as well as standards with innovation.This method was not only suitable for theoretical study but also for skills training,especially for standardization training.

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