ABSTRACT
Objective To investigate the application value of pre-implantation genetic testing(PGT)in patients with Turner syndrome.Methods The clinical data,embryonic development,PGT results and pregnancy outcome of 18 patients with Turner syndrome who underwent PGT in the reproductive center of 900th Hospital from January 2016 to June 2023 were retrospectively analyzed.Results All 18 patients had spontaneous puberty development,of which 4 patients had primary ovarian insufficiency(POI).A total of 24 oocyte retrieval cycles were performed in 18 patients,of which 6 patients had no biopsied embryos for 10 cycles.Sixty-one embryos were biopsied and 60 embryos were clearly diagnosed,including 25 with chromosomal abnormalities.Seven patients with mosaic Turner syndrome obtained clinical pregnancies after transplantation,including 4 healthy boys had already been delivered and 3 are in pregnancy.Conclusion There are numerous types of karyotype in Turner syndrome.The clinical phenotypes vary greatly in individuals with Turner syndrome,and prognosis of PGT is significant different.Patients with Turner syndrome who had biopsied embryos can obtain available embryo using PGT,and achieve ideal clinical outcomes.
ABSTRACT
Moyamoya disease(MMD)is a bilateral stenosis occlusional disease that selectively affects the superior segment of clinoid of the internal carotid artery with secondary abnormal vascular network formation at the base of the skull.Intracranial and extracranial vascular reconstruction is the main treatment of moyamoya disease.However,moyamoya disease revasectomy still faces many challenges,with high requirements of surgical techniques and high risk of complications.In this paper,the perioperative management of cerebrovascular reconstruction in moyamoya disease was discussed in terms of surgical indications,surgical timing,patient management,surgical methods of cerebrovascular reconstruction and postoperative complications,so as to provide reference for improving the prognosis of patients.
ABSTRACT
Objective:To explore the application of mobile augmented reality (mAR) technology in the teaching of neuroanatomy, and to observe its effect on students' academic performance and cognitive load.Methods:By collecting and designing various neuroanatomy multimedia teaching resources (graphics, animations and videos), using augmented reality (AR) marker-based image recognition technology, the multimedia resources were placed at the tags in the traditional book pages to make the books interactive. And various multimedia resources were combined with traditional printed books through mobile devices. Forty students were randomized into the experimental group or the control group. The experimental group was taught with mAR multimedia materials, and the control group adopted traditional teaching methods. After a 6-hour course was completed, all students had a unified test, and the academic performance test and the PAAS(platform-as-a-service) cognitive load scale were used for data collection and analysis. The variance analyses (MANOVA and ANOVA) were used for significance testing.Results:One-way MANOVA test was used to determine the learning effect of mAR on academic performance and cognitive load. The results showed that there was a significant difference between the experimental group and the control group ( P<0.05). The univariate ANOVA test found that the experimental group students who learned neuroanatomy through mAR had better test scores than the control group students. In addition, compared with the control group students, the cognitive load of students in experimental group was significantly reduced, with statistical significance (all P<0.05). Conclusion:Through the teaching practice, we found that using mAR to learn neuroanatomy helps students improve their academic performance while reducing their cognitive load.
ABSTRACT
OBJECTIVE@#To assess the application value of mapping allele with resolved carrier status (MaReCs) technique for preimplantation genetic testing (PGT).@*METHODS@#The characteristics of MaReCs for PGT and outcome of patients were retrospectively analyzed.@*RESULTS@#Compared with those who could not use the technique, carriers who have used the MaReCs technique were younger, had significantly higher level of anti-Mullerian hormone, more antral follicles, occytes, mature occytes, biopsied embryos and euploid embryos, and lower risks for de novo chromosomal abnormality (P 0.05). Carriers undergoing MaReCs test could preferentially select embryos with normal chromosome structures for the transfer.@*CONCLUSION@#Application of MaReCs has a prerequisite for having a minimum number of occytes and biopsied embryos and using discarded embryos sometimes. MaReCs is efficient for the detection of carrier status of embryos and attaining higher rate of pregnancy and live birth, which can significantly improve the outcome for couples carrying chromosomal translocations.
Subject(s)
Female , Humans , Pregnancy , Alleles , Aneuploidy , Blastocyst , Fertilization in Vitro , Genetic Testing , Preimplantation Diagnosis , Retrospective Studies , Translocation, GeneticABSTRACT
OBJECTIVE@#To explore the effect of chromosomal translocations on the composition of embryonic chromosomes and its mechanism.@*METHODS@#For 52 couples with one partner carrying a chromosomal translocation, results of next generation sequencing of all embryos derived from 61 cycles were divided into different groups based on the type of translocations, gender of the carrier, and maternal age. Effect of parental chromosomal translocations on the composition of embryonic chromosomes of each group was analyzed.@*RESULTS@#A significant difference was found between carriers of reciprocal and Robertsonian translocations in terms of proportion of abnormal embryos and structurally normal chromosomes (63.3% vs. 27.5%, and 1.1% vs. 0.3%, respectively). Compared with male carriers, there was an increase in the rate of abnormalities for female carriers (67.2% vs. 58.3% for reciprocal translocations, and 45.5% vs. 13.8% for Robertsonian translocations). The risk for chromosomal abnormality also increased with the maternal age. No significant difference was found in the proportion of abnormal embryos between carriers divided by involvement of acrocentric chromosomes or terminal chromosomal breakpoints.@*CONCLUSION@#The types of parental translocation, gender of carrier, maternal age, and interchromosomal effect have certain effect on the composition of embryonic chromosomes.
Subject(s)
Female , Humans , Male , Pregnancy , Chromosomes, Human , Genetics , Genetic Carrier Screening , In Situ Hybridization, Fluorescence , Maternal Age , Preimplantation Diagnosis , Translocation, GeneticABSTRACT
Objective To investigate the surgical technique and the curative effects of neuroendoscopic surgery via superior frontal sulcus in the treatment of hypertensive intracerebral hemorrhage. Methods The clinical data of 63 patients with hypertensive intracerebral hemorrhage were analyzed retrospectively. Thirty-one of them were treated by neuroendoscopic surgery via superior frontal sulcus(neuroendoscopic surgery group), and 32 of them were treated by mini- invasive drainage (conventional therapy group). All of them were followed up for 6 months, and were assessed by the activity of daily living (ADL) scale. Results After treatment, all patients reviewed CT. The clear rate of hematoma in neuroendoscopic surgery group was 86.0%, in conventional therapy group was 23.3%, and there was significant difference (P<0.05). There were one death case in neuroendoscopic surgery group and 2 death cases in conventional therapy group. The survival patients were followed up for 6 months .The rate of better prognosis in neuroendoscopic surgery group was 83.3%(25/30), in conventional therapy group was 53.3%(16/30), and there was significant difference (P<0.05). Conclusions The surgical technique of neuroendoscopic surgery via superior frontal sulcus in the treatment of hypertensive intracerebral hemorrhage is safe and effective.
ABSTRACT
AIM:To observe the expression of nuclear factor-kappa B ( NF-κB) , N-methyl-D-aspartic acid re-ceptor 2B (NR2B) and inducible nitric oxide synthase (iNOS) in the spinal cord in a rat model of chronic constriction in-jury (CCI) of the sciatic nerve.METHODS:Fifty-six adult male Sprague-Dawley rats weighing 180~220 g were random-ly divided into sham group (n=8) and CCI group (n=48).The mechanical withdrawal threshold (MWT) and paw with-drawal latency (PWL) of the hind paws were measured 1 d before CCI and 1 d, 4 d, 7 d, 14 d and 21 d after surgery.The L4~L6 segment of the spinal cord was taken for determining the expression of NF-κB, NR2B and iNOS by RT-PCR and Western blotting.RESULTS:At 1 d, 4 d, 7 d, 14 d and 21 d after surgery, the MWT and PWL in CCI group were obviously lower than those in sham group .The expression of NF-κB, NR2B and iNOS at mRNA and protein levels in-creased significantly.Positive correlations were found between the mRNA expression of NF-κB and iNOS (r=0.842, P<0.05), and between the mRNA expression of NR2B and iNOS (r=0.833, P<0.05).CONCLUSION:The generation and maintenance of hyperalgesia in sciatic nerve injury rats may attribute to the activation of NF -κB and NR2B and concom-itant increase in iNOS .
ABSTRACT
Objective To investigate clinical features,diagnosis,clearance strategies and prognosis of intracranial foreign bodies.Methods Twenty patients with intracranial foreign bodies were analyzed retrospectively,together with review of the related literatures.Results Twenty patients underwent craniotomy for intracranial foreign body removal under guidance of preoperative CT and X-ray localizations and intraoperative C-arm X-ray machine and ultrasound localizations.A total of 35 foreign bodies were removed.One patient underwent second surgical resection after the incomplete removal due to displacement of intracranial foreign bodies.According to Glasgow outcome score (GOS) at discharge,the outcomes were good (GOS =4-5 points) in 16 patients,poor (GOS =2-3 points) in three and death (GOS =1 point) in one.Conclusions CT and X-ray locations before surgery and C-ann X-ray machine and ultrasound locations in operation avail the removal of foreign bodies by craniotomy.In the meantime,prognosis is satisfactory.
ABSTRACT
Objective: To observe the clinical therapeutic effects of Puerarin(葛根素) and naloxone((纳洛酮)) in treatment for traumatic cerebral infarction(TCI).Methods: Fiftytwo patients with TCI were randomly divided into two groups: treatment group(n=28,9 cases with simple TCI and 19 cases with TCI complicated with cerebral contusion and intracranial hemorrhage) and control group(n=24,7 cases with simple TCI and 17 cases with TCI complicated with cerebral contusion and intracranial hemorrhage).The therapeutic effects were compared between two groups.Results: The total effective rate in treatment group(82.14%) was significantly higher than that in control group(62.50%,?~2=6.44,P
ABSTRACT
Objective To investigate the clinical effect of minimally invasive surgery via basisylvian fissure approach in the treatment of severe hypertensive cerebral hemorrhage in basal ganglia. Methods The Study Group included 28 patients who received a minimally invasive surgery via basisylvian fissure approach, while the Control Group had 26 patients who underwent a traditional hematoma removal. Comparisons were made between the two groups on short-term (1 month) and long-term (6 months) effects. Results The rates of excellent or good short-term outcomes and mortalities were 53.6% (15/28) and 17.9% (5/28) in the Study Group, and 46.2% (12/26) and 15.4% (4/26) in the Control Group, respectively, without significant differences between the two groups (?2=0.297, P=0.586; ?2=0.000, P=1.000). However, the activity of daily life (ADL) grade I~Ⅲ accounted for 63.2% (12/19) of long-term survivors in the Study Group, which was superior to the Control Group (23.6%, 4/17) (z=-2.189, P=0.029). Conclusions Minimally invasive surgery for severe hypertensive cerebral hemorrhage in basal ganglia provides better life quality of survivors after operation than traditional hematoma removal.