It is known that age is an important factor for postoperative cognitive dysfunction (POCD) and the patients with POCD suffer from the impairment of multiple brain regions and multiple brain functions. However currently animal studies of POCD mainly focus on hippocampus region, therefore in this study we performed partial hepatectomy in young adult and aged rats to test the questions (1) whether POCD in animals involves other brain areas besides hippocampus; (2) how age influences POCD of young adult and aged animals. We found that (1) in young adult rats, the memory was not significantly affected (P>0.05) 1d, 3d and 7d after partial hepatectomy, but was significantly impaired (p<0.001) in aged rats 1d and 3d post-surgery; (2) in young adult rats, the surgery did not significantly affect the densities of dendritic spines of neurons at CA1, dentate gyrus (DG) and cingulate cortex (P>0.05, respectively) 1d and 3d post-surgery, but the spine densities at CA1 and DG of aged rats were significant reduced 1d and 3d post-surgery (p<0.001, respectively), however this didn’t happen at cingulate cortex (P>0.05); (3) In young adult rats, surgery didn’t affect the activation of microglia and levels of TNF-α and IL-1β at hippocampus (P>0.05), but significantly activated microglia and increased levels of TNF-α and IL-1β at hippocampus of aged rats (P<0.05). Our data suggest that (1) partial hepatectomy-induced POCD mainly involves hippocampus impairments, and (2) differential loss of neuronal dendritic spines and neuroinflammation at hippocampus are most likely the mechanism for the formation of POCD in aged rats.

Retinitis pigmentosa (RP) is highly heterogeneous in both clinical and genetic fields. Accurate mutation screening is very beneficial in improving clinical diagnosis and gene-specific treatment of RP patients. The reason for the difficulties in genetic diagnosis of RP is that the ethnic-specific mutation databases that contain both clinical and genetic information are largely insufficient. In this study, we recruited 98 small Han Chinese families clinically diagnosed as RP, including of 22 dominant, 19 recessive, 52 sporadic, and five X-linked. We then used whole exome sequencing (WES) analysis to detect mutations in the genes known for RP in 101 samples from these 98 families. In total, we identified 57 potential pathogenic mutations in 40 of the 98 (41%) families in 22 known RP genes, including 45 novel mutations. We detected mutations in 13 of the 22 (59%) typical autosomal dominant families, 8 of the 19 (42%) typical autosomal recessive families, 16 of the 52 (31%) sporadic small families, and four of the five (80%) X-linked families. Our results extended the mutation spectrum of known RP genes in Han Chinese, thus making a contribution to RP gene diagnosis and the pathogenetic study of RP genes.

Our findings suggest that the genetic backgrounds of PACG and POAG might be different. However, whether or not ABCA1 plays a role in the development of PACG is still not made certain by this study. Thus, further research is needed to find the role of ABCA1 in the progress of PACG.

Our data suggest there exists an age-related susceptibility of rat retina to the increased IOP. Therefore, the effect of ages should be considered at glaucoma study of rat models.

This study showed that CAT functional SNP rs769217 was significantly associated with POAG, implying that the CAT gene variants may play a role in the pathogenesis of POAG in the Chinese population.

Background Cryptic balanced translocations often evade detection by conventional cytogenetics. The preimplantation genetic testing (PGT) technique can be used to help carriers of balanced translocations give birth to healthy offspring; however, for carriers of cryptic balanced translocations, there is only one report about trying assisted reproduction using the PGT technique but with no pregnancy. Case presentation A couple had 3 births out of 4 pregnancies, and all died very young, with two of them having both cerebral palsy and glaucoma. The husband with oligoasthenospermia was found to be a cryptic balanced translocation carrier for t (9,13) (p24.3, q31.3) with G-banding, FISH (fluorescence in-situ hybridization), and MicroSeq techniques; live birth of a healthy baby girl was achieved with PGT/NGS (next-generation sequencing) for the couple. Conclusion Here, we report for the first time a successful live birth of a healthy baby through the PGT technique for a family in which the husband is a carrier of the cryptic balanced translocation t (9,13) (p24.3, q31.3), presumably causative for cerebral palsy and glaucoma. Our study showed that the PGT/NGS technique can effectively help families with a cryptic balanced translocation have healthy offspring.

FET is to resuscitate the endometrium and transfer the embryo into the uterus after the endometrium is ready. The quality of transferred embryos is an important factor affecting the outcome of assisted reproductive technology. This paper aims to explore the feasibility of D4 frozen-thaw embryo transfer and analysis of related factors affecting the outcome of freeze-thaw embryo transfer. A retrospective analysis of the clinical data of 2925 patients who received frozen-thaw embryo transfer (FET) in the Department of Reproductive Medicine, General Hospital of Northern Theater Command from January 1, 2017 to July 31, 2019. Including the woman’s age, body mass index (BMI), endometrial thickness on the day of transplantation, number of embryos to be transferred, and type of embryos to be transferred. A single factor, multivariate logistic regression and nomogram were used to analyze the influence of different factors on the clinical outcome of FET. Nanomedicines and related nanomedicines are rapidly developing and establishing their importance in embryo transfer. This paper uses nanomaterials to explore the feasibility of D4 frozen-thawed embryo transfer. The woman’s age, endometrial thickness on the day of transplantation, BMI, the number of embryos transferred, and the type of embryos transferred all affect the outcome of FET. The pregnancy rate of the D5 and D4 transplantation groups was, respectively, higher than that of the D3 transplantation group, with statistically significant differences. In the FET cycle, the age of the woman, endometrial thickness on the day of transplantation, the number of embryos transferred, and the type of embryos transferred are all independent factors influencing the outcome of FET. D5 blastocyst is the easiest to get pregnant, and that has the best clinical outcome which is better than the D6 blastocyst group; D4 morula and D5 blastocyst FET have little difference in clinical pregnancy outcomes, but both of them are significantly better than D3 cell embryos, so D4 morula can be considered for transplantation in the FET cycle. In conclusion, whether it is a patient who has failed the fresh cycle transplantation or the whole embryo freezing cycle whose transplantation is canceled due to high hormone levels on the transplantation day, FET is required.

INTRODUCTION: Prenatal screening for fetal aneuploidy has improved tremendously since the incorporation of cell-free DNA (cfDNA) in to the genetic screening armamentarium. Despite its improved detection rate of aneuploidy, this remains a screening tool and not designed to provide diagnostic information. This study aimed to assess whether initiation of cfDNA screening at the University of Illinois at Chicago (UIC) in January 2012 influenced the acceptance of prenatal diagnostic testing in at-risk women. METHODS: Retrospective study of two cohorts of women who received prenatal genetic counseling at UIC: pre-cfDNA era from January 2010 to December 2011 and cfDNA era from January 2012 to December 2016. Charts of eligible patients were reviewed; demographics, indications for genetic counseling and acceptance of diagnostic testing were analyzed. Statistical tests: Chi-square, Fisher exact test, Student t-test, bivariate and multivariate analysis were utilized. RESULTS: A total of 2371 women had genetic counseling at UIC from 2010 to 2016; 629 prior to cfDNA and 1741 after. There were 319 women who had diagnostic testing, 168 (26.7%) during pre-cfDNA era vs. 151 (8.7%) in the cfDNA era, RR 4.0 (95% CI 3.1-5.0), p<0.001. Multivariate analysis using Mantel-Haenszel test revealed that pregnant women prior to availability of cfDNA were more likely to pursue prenatal genetic diagnostic testing, and it remained statistically significant even after controlling for confounders, RR 1.20 (1.18-1.23), p<0.001. CONCLUSION: Advent of cfDNA as prenatal screening was associated with decreased utilization of diagnostic prenatal testing in women whose offspring were at risk of chromosomal abnormalities.