Analysis of major adverse cardiac events and risk factors during perioperative period of cervical spine surgery / 中国综合临床

Objective:To understand the occurrence of major adverse cardiac events (MACE) during the perioperative period of cervical spine surgery and analyze its risk factors.Methods:A retrospective analysis of 426 cervical spine surgery patients admitted to the from March 2017 to March 2021. The basic information of the patients, including gender, age, body mass index (BMI), underlying diseases, and the Charlson comorbidity index (CCI) was calculated based on the underlying diseases.The preoperative serum cardiac troponin I(cTnI) level and the operation-related indicators were collected,including the type of cervical spine surgery, surgical procedure, approach, duration of surgery, duration of anesthesia, intraoperative bleeding, postoperative pain visual analogue scale (VAS), and electrolyte disturbances. Count data were expressed as cases (%), and comparisons between groups were made using the χ 2 test; logistic regression models were applied to perform a multifactorial analysis of the factors influencing the perioperative occurrence of MACE in patients undergoing cervical spine surgery. Results:Among the 426 patients, 54 (12.68%) experienced MACE during the perioperative period, including 4 cases of unstable angina (7.41%), 4 cases of acute myocardial infarction (7.41%), 33 cases of severe arrhythmia (61.11%), and 13 cases of acute heart failure (24.07%). The results of multivariate logistic regression analysis showed that the older the age group (50-59 years old: odds ratio=1.34, 95% confidence interval: 1.14-1.78; 60-69 years old: odds ratio=1.48, 95% confidence interval: 1.20-1.86; 70-79 years old: odds ratio=1.71, 95% confidence interval: 1.34-2.57; 80-89 years old: odds ratio=1.95, 95% confidence interval: 1.46-2.85), as well as females, CCI scores>3, and preoperative cTnI>0.04 μg/L, postoperative VAS score>5, and electrolyte disorders are all influencing factors for the occurrence of MACE in cervical spine surgery patients during the perioperative period (odds ratios of 1.84, 2.12, 2.34, 2.57, 2.20, 95% confidence intervals of 1.34-2.68, 1.50-3.41, 1.63-3.72, 1.53-4.01, 1.43-3.69, all P<0.05). Conclusions:The incidence of MACE in the perioperative period of cervical spine surgery is relatively high. Elderly age, female, high CCI score, high preoperative serum cTnI, postoperative pain and electrolyte disturbance are independent risk factors for the perioperative period of cervical spine surgery.

Application of single sperm sequencing for the preimplantation genetic testing of a Chinese family affected with Spinal muscular atrophy / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of single sperm sequencing in preimplantation genetic testing for monogenic disease (PGT-M).@*METHODS@#A Chinese couple with two children whom had died of Spinal muscular atrophy (SMA) and attended the Jiangxi Provincial Maternal and Child Health Care Hospital in June 2020 was selected as the subject. Eleven single sperm samples were isolated by mechanical immobilization and subjected to whole genome amplification. Real-time PCR and Sanger sequencing were used to detect the SMN1 variants in the single sperm samples. Genomic DNA of the wife, her parents and the husband, as well as one single sperm sample harboring the SMN1 variant and two single sperm samples without the variant were used for the linkage analysis. Targeted capture and high-throughput sequencing were carried out to test 100 single nucleotide polymorphisms distributed within 2 Mb up- and downstream the variant site. The haplotypes linked with the SMN1 variants were determined by linkage analysis. Blastocyst embryos were harvested after fertilizing by intracytoplasmic sperm injection. Cells from the trophoblasts of each embryo were biopsied and subjected to whole genome amplification and targeted capture and high-throughput sequencing to determine their carrier status. Chromosomal aneuploidy of wild-type embryos was excluded. An euploid embryo of high quality was transferred. Amniotic fluid sample was taken at 18 weeks of gestation to confirm the status of the fetus.@*RESULTS@#Genetic testing showed that the couple both had deletion of exons 7 ~ 8 of the SMN1 gene. The wife has inherited the deletion from her father, while the husband was de novo. The haplotypes of the husband were successfully constructed by single sperm sequencing. Preimplantation genetic testing has indicated that 5 embryos had harbored the heterozygous variant, 4 embryos were of the wild type, among which 3 were euploid. Prenatal diagnosis during the second trimester of pregnancy has confirmed that the fetus did not carry the deletion.@*CONCLUSION@#By single sperm sequencing and PGT-M, the birth of further affected child has been successfully avoided.

Application of next generation sequencing for preimplantation genetic test of 71 couples with one partner carrying a reciprocal or Robertsonian translocation / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of preimplantation genetic test (PGT) based on next generation sequencing (NGS) for achieving pregnancy for 71 couples with one partner carrying a reciprocal or Robertsonian translocation.@*METHODS@#Following blastocyst biopsy, whole genome of single cell was amplified, and PGT was performed by NGS. The subjects included 60 couples with one partner carrying a reciprocal translocation and 11 with one partner carrying a Robertsonian translocation. The results of PGT, implantation and prenatal diagnosis for all of the couples were analyzed.@*RESULTS@#In total 301 embryos were obtained for the 71 couples through 92 ovulation cycles, 287 (95.3%) of which were successfully diagnosed by NGS. Eighty-five euploidy embryos were identified for the reciprocal translocation carrier group. In 18 cycles, no euploid embryo was obtained. Cancellation rate for the cycles was 19.5%. For reciprocal translocation carrier group and Robertsonian translocation carrier group, the rates for implantation, early abortion, and clinical pregnancy were 89.3% (42/47), 25.5% (12/47), 63.8% (30/47), and 88.8% (8/9), 22.2% (2/9), and 66.6% (6/9), respectively. The result of prenatal diagnosis was consistent with the that of PGT.@*CONCLUSION@#PGT based on NGS can effectively identify euploid embryos and reduce recurrent abortions and termination of pregnancies, achieving a satisfactory rate for clinical pregnancy.

Application of NGS-based SNP haplotyping for preimplantation genetic diagnosis for beta-thalassemia and HLA matching / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping for preimplantation genetic diagnosis (PGD) for beta-thalassemia coupled with human leukocyte antigen (HLA) matching.@*METHODS@#Three couples were recruited. Couple 1 both carried a β (IVS-2-654) variation and had previously given birth to a son with β thalassemia major. Couple 2 respectively carried (cd41-42) and β (IVS-2-654) but had no history of pregnancy. Couple 3 respectively carried β (CD17) and β (IVS-2-654), and had a daughter carrying β (CD17).@*RESULTS@#For couple 1, NGS-SNP typing identified two embryos not only unaffected with thalassemia but also with matched HLA. One blastocyst was transferred and resulted in successful pregnancy. A healthy baby was born at 39th week of gestation. Its umbilical blood was used to treat the sick brother through hemopoietic stem cell transplantation. For couple 2, seven blastocysts were obtained. Second transplantation has resulted in successful pregnancy. Prenatal diagnosis was consistent with PGD. For couple 3, two blastocysts not only unaffected with thalassemia but also with no pathogenic copy number variations were obtained. Transfer of one blastocyte resulted in successful pregnancy, and prenatal diagnosis was consistent with PGD.@*CONCLUSION@#NGS-based SNP typing is an useful tool for selecting embryos unaffected with beta-thalassemia and matched HLA through PGD.

Application of NGS-based SNP haplotyping for preimplantation genetic diagnosis for beta-thalassemia and HLA matching / 中华医学遗传学杂志

Objective@#To assess the value of next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping for preimplantation genetic diagnosis (PGD) for beta-thalassemia coupled with human leukocyte antigen (HLA) matching.@*Methods@#Three couples were recruited. Couple 1 both carried a βIVS-2-654 variation and had previously given birth to a son with β thalassemia major. Couple 2 respectively carried βcd41-42 and βIVS-2-654 but had no history of pregnancy. Couple 3 respectively carried βCD17and βIVS-2-654, and had a daughter carrying βCD17.@*Results@#For couple 1, NGS-SNP typing identified two embryos not only unaffected with thalassemia but also with matched HLA. One blastocyst was transferred and resulted in successful pregnancy. A healthy baby was born at 39th week of gestation. Its umbilical blood was used to treat the sick brother through hemopoietic stem cell transplantation. For couple 2, seven blastocysts were obtained. Second transplantation has resulted in successful pregnancy. Prenatal diagnosis was consistent with PGD. For couple 3, two blastocysts not only unaffected with thalassemia but also with no pathogenic copy number variations were obtained. Transfer of one blastocyte resulted in successful pregnancy, and prenatal diagnosis was consistent with PGD.@*Conclusion@#NGS-based SNP typing is an useful tool for selecting embryos unaffected with beta-thalassemia and matched HLA through PGD.

Establishment of medians for maternal serum markers in Down's syndrome screening during the second trimester of pregnancy in north-central region of Jiangxi Province / 中南大学学报(医学版)

Objective:To establish the median databases of serum markers for Down's syndrome screening during the second trimester of pregnancy women in the north-central area of Jiangxi Province.Methods:Time-resolved fluorometry was used to detect the serum contents of AFP free β-hCG and uE3 in 57 548 pregnant women during 15-20 gestational weeks.Risk evaluation was conducted by LifeCycle 4.0.SAS 9.2 software was used to establish a model of the median fitted equation.The newly constructed median system was used to reassess the risk of Down's syndrome development in pregnant women.Results:The medianand built in medianof north-central region in Jiangxi Province are significantly different (Z=2.201,P=0.028).The relationship between the median of the triple index and the gestational age was analyzed by the weight regression model.The relationship between the MoM value and the weight was used to calculate the reciprocal model.The median of the new system was more efficiency than the built in median.In the median of the new system than the reference,the detection rate improved from 62.75％ to 72.55％,false positive rate reduced by 5.84％ to 4.94％.Conclusion:The newly constructed median system is suitable for Down's syndrome screening in the north-central region of Jiangxi Province.

The effect of different lumbar segmental fixation on lumbar activity and intervertebral pressure / 重庆医学

Objective To study the changes of inferior adjacent segmental after different segmental fixation ,and to analyze the accelerating mechanism of the adjacent segment degeneration .Methods Sixty sheep lumbar spine specimens (Waist 1 vertebral body-S5) with pedicle screws were collected ,according to the different fixed section ,they were divided into complete control group(not fixed) ,L6-L7 single segment fixed group ,L5-L7 short segmental fixed group ,L3-L7 long segmental fixed group .The biomechan-ical experiment was measured in the 6 N · m torque loading ,L7-S1 sacral vertebra clearance were measured in different fixed sec-tion .Results Applied in fixed ,beneath the adjacent segment in the stretch direction of angular displacement ,intervertebral disc pressure was increased significantly ,amplitude in creased with the increase of fixed range .The difference between groups was sta-tistically significant(P< 0 .05) .Conclusion After fixing spine in pedicle screws ,the longer the segmentation is fixed ,the more effect it has on subjacent segment degeneration .