Discussion on scientific connotation of "cold coagulation and blood stasis" for endometriosis pathogenesis based on iron overload / 国际中医中药杂志

This article analyzed the specific path of iron overload affecting EMT "blood countercurrent cell survival/adhesion/invasion/angiogenesis ectopic lesions" from the three aspects of mediating NF-κB and inflammatory reaction, stimulation of abnormal activation of macrophages, and induction of oxidative stress injury; introduced the theoretical connotation of the pathogenesis of "cold coagulation and blood stasis", and briefly described the progress of the pathogenesis of EMT from the perspective of "blood out of menstruation - injury caused by cold pathogenic factors - cold coagulation and blood stasis - long-term accumulation syndrome"; based on the mutual confirmation of "menstruation countercurrent - iron overload microenvironment - cell survival/adhesion/invasion/angiogenesis - ectopic focus" and "blood out of menstruation - cold pathogen injury - cold coagulation and blood stasis - chronic accumulation syndrome", it was believed that starting from iron overload could tap the scientific connotation and microscopic materials of the pathogenesis of "cold coagulation and blood stasis" in EMT, so as to provide new directions and theoretical references for the research of the pathogenesis of EMT and the mechanism of drugs.

Analysis of lysosomal enzyme activity and genetic variants in a child with late-onset Pompe disease / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical features, lysosomal enzymatic [acid α-glucosidase (GAA)] activities and genetic variants in a child with late-onset Pompe disease (LOPD).@*METHODS@#Clinical data of a child who had presented at the Genetic Counseling Clinic of West China Second University Hospital in August 2020 was retrospectively analyzed. Blood samples were collected from the patient and her parents for the isolation of leukocytes and lymphocytes as well as DNA extraction. The activity of lysosomal enzyme GAA in leukocytes and lymphocytes was analyzed with or without addition of inhibitor of GAA isozyme. Potential variants in genes associated with neuromuscular disorders were analyzed, in addition with conservation of the variant sites and protein structure. The remaining samples from 20 individuals undergoing peripheral blood lymphocyte chromosomal karyotyping were mixed and used as the normal reference for the enzymatic activities.@*RESULTS@#The child, a 9-year-old female, had featured delayed language and motor development from 2 years and 11 months. Physical examination revealed unstable walking, difficulty in going upstairs and obvious scoliosis. Her serum creatine kinase was significantly increased, along with abnormal electromyography, whilst no abnormality was found by cardiac ultrasound. Genetic testing revealed that she has harbored compound heterozygous variants of the GAA gene, namely c.1996dupG (p.A666Gfs*71) (maternal) and c.701C>T (p.T234M) (paternal). Based on the guidelines from the American College of Medical Genetics and Genomics, the c.1996dupG (p.A666Gfs*71) was rated as pathogenic (PVS1+PM2_Supporting+PM3), whilst the c.701C>T (p.T234M) was rated as likely pathogenic (PM1+PM2_Supporting+PM3+PM5+PP3). The GAA in the leukocytes from the patient, her father and mother were respectively 76.1%, 91.3% and 95.6% of the normal value without the inhibitor, and 70.8%, 112.9% and 128.2% of the normal value with the inhibitor, whilst the activity of GAA in their leukocytes had decreased by 6 ~ 9 times after adding the inhibitor. GAA in lymphocytes of the patient, her father and mother were 68.3%, 59.0% and 59.5% of the normal value without the inhibitor, and 41.0%, 89.5% and 57.7% of the normal value with the inhibitor, the activity of GAA in lymphocytes has decreased by 2 ~ 5 times after adding the inhibitor.@*CONCLUSION@#The child was diagnosed with LOPD due to the c.1996dupG and c.701C>T compound heterozygous variants of the GAA gene. The residual activity of GAA among LOPD patients can range widely and the changes may be atypical. The diagnosis of LOPD should not be based solely on the results of enzymatic activity but combined clinical manifestation, genetic testing and measurement of enzymatic activity.

Nursing cooperation of laparoscopic left lateral segment liver resection / 现代临床护理

Objective To summarize the key points in surgical cooperation of laparoscopic left lateral segment liver resection. Methods The clinical data of 24 patients undergoing laparoscopic left lateral segment liver resection from March to September of 2013 were analyzed retrospectively to summarize the key points in surgical cooperation of preoperative preparation and intraoperative coordination.Result All the operations were successful with the operation mean time of(72.0±26.8)min,no intraoperative transfer or termination of the operations.Conclusion Sufficient preoperative preparation together skilled surgical nursing cooperation in laparoscopic left lateral segment liver resection is critical for the success of operation.