With the development of preimplantation genetic testing (PGT) technology, the application of third-generation sequencing technology in PGT has been increasing. This article reports the pregnancy outcome of a patient with autosomal dominant polycystic kidney disease who underwent PGT using the third-generation sequencing technology. It summarizes the technical characteristics of third-generation sequencing technology, as well as its significant advantages and limitations in PGT for families with de novo mutations.

With the development of preimplantation genetic testing (PGT) technology, the application of third-generation sequencing technology in PGT has been increasing. This article reports the pregnancy outcome of a patient with autosomal dominant polycystic kidney disease who underwent PGT using the third-generation sequencing technology. It summarizes the technical characteristics of third-generation sequencing technology, as well as its significant advantages and limitations in PGT for families with de novo mutations.

Objective To explore the influence of function-oriented training combined with proprio-ceptive neuromuscular facilitation(PNF)technique on stroke patients during convalescence.Methods A total of 106 patients with cerebral infarction during convalescence admitted to the First Hospital of Hebei Medical University and Hebei provincial of Tradifional Chinese Medicine Hospital from January 2021 to December 2023 were recruited and then randomly divided into combined group(53 cases)and control group(53 cases).The control group only received function-oriented training,while the combined group received function-oriented training combined with PNF technique.The neurological function,balance function,walking ability and motor function were compared before and after intervention and between groups.Results After intervention,the NIHSS score and central nervous system specific protein(S100β)and neuron specific enolase(NSE)levels were significantly lower in the two groups than those before intervention(P＜0.05),and the score and levels after intervention were significantly lower in combined group than the control group(13.28±0.86 vs 15.76±0.94,P＜0.01;1.56±0.24 μg/L vs 1.79±0.23 μg/L,P＜0.0 1;20.46±3.12 μg/L vs 24.75±3.69 μg/L,P＜0.01).The Berg balance scale(BBS)score,step speed and step length in 10-meter walking test(10 MWT)and Fugl-Meyer assessment score were significantly higher in both groups after intervention than those before intervention(P＜0.05),and the above indicators in the combined group were obviously higher than those in refer-ence group after intervention(P＜0.05,P＜0.01).Conclusion For the patients during cerebral infarction convalescence,function-oriented training combined with PNF technique can not only promote the recovery of neurological function,but also enhance the balance ability and walking a-bility,and improve the limb motor function.

Objective To explore the influence of function-oriented training combined with proprio-ceptive neuromuscular facilitation(PNF)technique on stroke patients during convalescence.Methods A total of 106 patients with cerebral infarction during convalescence admitted to the First Hospital of Hebei Medical University and Hebei provincial of Tradifional Chinese Medicine Hospital from January 2021 to December 2023 were recruited and then randomly divided into combined group(53 cases)and control group(53 cases).The control group only received function-oriented training,while the combined group received function-oriented training combined with PNF technique.The neurological function,balance function,walking ability and motor function were compared before and after intervention and between groups.Results After intervention,the NIHSS score and central nervous system specific protein(S100β)and neuron specific enolase(NSE)levels were significantly lower in the two groups than those before intervention(P＜0.05),and the score and levels after intervention were significantly lower in combined group than the control group(13.28±0.86 vs 15.76±0.94,P＜0.01;1.56±0.24 μg/L vs 1.79±0.23 μg/L,P＜0.0 1;20.46±3.12 μg/L vs 24.75±3.69 μg/L,P＜0.01).The Berg balance scale(BBS)score,step speed and step length in 10-meter walking test(10 MWT)and Fugl-Meyer assessment score were significantly higher in both groups after intervention than those before intervention(P＜0.05),and the above indicators in the combined group were obviously higher than those in refer-ence group after intervention(P＜0.05,P＜0.01).Conclusion For the patients during cerebral infarction convalescence,function-oriented training combined with PNF technique can not only promote the recovery of neurological function,but also enhance the balance ability and walking a-bility,and improve the limb motor function.

Objective:To explore the relationship between the ultrasound parameters of reproductive system and the expression of endocrine hormone in female pediatric patients with precocious puberty(PP),and to assess the treatment effect.Methods:A total of 160 female pediatric patients with PP who admitted to Beijing Jingmei Group General Hospital from January 2021 to December 2021 were selected,and they were divided into a positive group and a normal group based on the diagnostic criteria for precocious puberty,with 80 cases in each group.Ultrasound examination was performed on the uterus,ovaries and breasts of 160 female pediatric patients with PP,and the relevant parameters of them were measured,and the levels of endocrine hormone in the serums of them were detected.The pediatric patients of positive group underwent again the ultrasound examination and the detection of endocrine hormone after they completed treatment.The differences of ultrasound parameters and endocrine hormone between two groups were compared,and the correlation of ultrasound parameters and endocrine hormone between two groups were analyzed,as well as the influence factors of treatment effect.Results:The length and thickness of the uterus,the ratio of the length of the uterus to the length of cervix,the thickness of the endometrium,the size of the ovaries,the number of follicles,and the width and thickness of the hypoechoic area of the breast in the positive group were significantly larger than them in the normal group,and the differences of them were statistical significance(t=16.8,12.6,12.4,14.7,11.5,15.8,10.9,10.2,P<0.05),respectively.The resistance index(RI)of uterine artery of positive group was significantly smaller than that of normal group,and the difference was statistically significant(t=-7.9,P<0.05).The serum estradiol(E2),gonadotropin(GnRH),follicle-stimulating hormone(FSH),luteinizing hormone(LH),progesterone(P)and growth hormone(GH)levels of positive group were significantly higher than those of normal group,and the differences of them were significant(t=20.6,19.8,15.4,17.6,15.2,8.9,P<0.05),respectively.After treatment,the above-mentioned ultrasound parameters and endocrine hormone levels of the pediatric patients in the positive group were significantly improved.The relevant analysis showed that ultrasound parameters were positively correlated with levels of endocrine hormone,and they were important influence factor on the levels of endocrine hormone.In addition,the treatment effect was related to ultrasound parameters(OR=0.78-1.28,P<0.05),the levels of endocrine hormone(OR=0.73-0.77,P<0.05),age,height,weight and BMI(OR=0.70-0.72,P<0.05).Conclusion:The ultrasound parameters of the reproductive system of female pediatric patients with PP are closely related to the expression of endocrine hormones.The levels of endocrine hormones can be used as important indicators of the disease condition and prognosis of female pediatric patients with PP.

Objective:To investigate the effect of rebiopsy blastocyst on clinical pregnancy and neonatal outcomes in patients with preimplantation genetic testing (PGT) before embryo implantation.Methods:A retrospective cohort study analyzed the clinical pregnancy and neonatal outcomes of one biopsy and rebiopsy patients (453 and 60 patients, respectively) with PGT in the Reproductive Medicine Center of Henan Provincial People's Hospital from January 2019 to December 2022. The 2∶1 propensity score matching (PSM) method was used to match the age, body mass index (BMI) and infertility duration of women in the two groups, and the laboratory indexes and related indexes of transplant fertility and neonatal outcomes of PGT patients were compared between the two groups. The rebiopsy patients with PGT were divided into PGT for aneuploidy (PGT-A) subgroup, PGT for structural rearrangements (PGT-SR) subgroup and PGT for monogenic (PGT-M) subgroup according to PGT types, and the rebiopsy rate, the success rate of amplification and the rate of transferrable embryo were compared between each two subgroups.Results:After PSM, there were no significant differences in women's age, female body mass index, infertility type, ovulation induction program, PGT type and laboratory-related indexes between the two groups (all P>0.05). At the same time, the implantation rate, the clinical pregnancy rate and the live birth rate of rebiopsy embryos decreased, and the miscarriage rate increased, but the differences were not statistically significant (all P>0.05). The rate of day 3 available embryo in the rebiopsy PGT group [87.50% (434/496)] was significantly increased, and the number of blastocyst [4.00 (2.25,6.75)] was significantly decreased compared with one biopsy PGT group [82.19% (812/980), P=0.020; 5.50 (3.00,8.00), P=0.028]. Then the chromosomal euploidy rate of the rebiopsy embryo [35.9% (28/78)] decreased and the abnormality rate [9.0% (7/78)] increased in the rebiopsy PGT group compared with one biopsy PGT group [49.3% (226/458), P=0.028; 0.9% (4/458), P<0.001], and the differences were statistically significant. The aneuploidy rate and multi-chromosome mosaic rate in the rebiopsy PGT group were higher than those in the one biopsy PGT group, but the difference was not statistically significant (all P>0.05). There were no significant differences in birth weight, gestational age, sex ratio, low birth weight infants, macrosomia, small-for-gestational-age infants, large-for-gestational-age infants, and incidence of birth defects between the two groups (all P>0.05). There was no significant difference in the rebiopsy rate, the success rate of amplification and the rate of transferrable embryo between the subgroups of the PGT group (all P>0.05). Conclusion:For patients who fail the first biopsy, the clinical pregnancy rate, the live birth rate, the neonatal birth weight, and the birth defect incidence rate after the second biopsy of PGT are comparable to those of the patients with the first biopsy of PGT.

Objective:To investigate the effect of rebiopsy blastocyst on clinical pregnancy and neonatal outcomes in patients with preimplantation genetic testing (PGT) before embryo implantation.Methods:A retrospective cohort study analyzed the clinical pregnancy and neonatal outcomes of one biopsy and rebiopsy patients (453 and 60 patients, respectively) with PGT in the Reproductive Medicine Center of Henan Provincial People's Hospital from January 2019 to December 2022. The 2∶1 propensity score matching (PSM) method was used to match the age, body mass index (BMI) and infertility duration of women in the two groups, and the laboratory indexes and related indexes of transplant fertility and neonatal outcomes of PGT patients were compared between the two groups. The rebiopsy patients with PGT were divided into PGT for aneuploidy (PGT-A) subgroup, PGT for structural rearrangements (PGT-SR) subgroup and PGT for monogenic (PGT-M) subgroup according to PGT types, and the rebiopsy rate, the success rate of amplification and the rate of transferrable embryo were compared between each two subgroups.Results:After PSM, there were no significant differences in women's age, female body mass index, infertility type, ovulation induction program, PGT type and laboratory-related indexes between the two groups (all P>0.05). At the same time, the implantation rate, the clinical pregnancy rate and the live birth rate of rebiopsy embryos decreased, and the miscarriage rate increased, but the differences were not statistically significant (all P>0.05). The rate of day 3 available embryo in the rebiopsy PGT group [87.50% (434/496)] was significantly increased, and the number of blastocyst [4.00 (2.25,6.75)] was significantly decreased compared with one biopsy PGT group [82.19% (812/980), P=0.020; 5.50 (3.00,8.00), P=0.028]. Then the chromosomal euploidy rate of the rebiopsy embryo [35.9% (28/78)] decreased and the abnormality rate [9.0% (7/78)] increased in the rebiopsy PGT group compared with one biopsy PGT group [49.3% (226/458), P=0.028; 0.9% (4/458), P<0.001], and the differences were statistically significant. The aneuploidy rate and multi-chromosome mosaic rate in the rebiopsy PGT group were higher than those in the one biopsy PGT group, but the difference was not statistically significant (all P>0.05). There were no significant differences in birth weight, gestational age, sex ratio, low birth weight infants, macrosomia, small-for-gestational-age infants, large-for-gestational-age infants, and incidence of birth defects between the two groups (all P>0.05). There was no significant difference in the rebiopsy rate, the success rate of amplification and the rate of transferrable embryo between the subgroups of the PGT group (all P>0.05). Conclusion:For patients who fail the first biopsy, the clinical pregnancy rate, the live birth rate, the neonatal birth weight, and the birth defect incidence rate after the second biopsy of PGT are comparable to those of the patients with the first biopsy of PGT.

Objective:To investigate the effect of laparoscopic ovarian cystectomy on anti-Mullerian hormone (AMH) level, ovarian response to gonadotropin stimulation and pregnancy rate for in vitro fertilization (IVF) patients with benign ovarian cysts.Methods:Patients with benign ovarian cysts who were admitted for cystectomy and had undergone IVF treatment were enrolled in the study. There were 373 participants with ovarian cysts underwent laparoscopic ovarian cystectomy in the experimental group. According to duration of post-surgery, there were four sub-groups: 1 year post-surgery (1Y POST), 2 years post-surgery (2Y POST), 4 years post-surgery (4Y POST) and ≥5 years post-surgery (≥5Y POST) in the experimental group. According to histopathologic types of ovarian cysts, there were two sub-groups: ovarian endometriotic cysts and ovarian non-endometriotic cysts. Two hundreds and three patients with no history of ovarian cysts and ovarian surgery were in the control group. The level of AMH and basic concentrations of follicle stimulating hormone (FSH), luteinizing hormone (LH), progesterone (P), estradiol (E 2) were measured. Antral follicle counts (AFC) were calculated. There were other study variables: total dose of gonadotropins, duration of ovarian stimulation, the number of oocyte retrieved, the number of embryo obtained, blastocyst transfer rate and pregnancy rate. Results:The control group was matched as closely as possible to the experimental group, including age, body mass index and menstrual cycle (all P>0.05). Compared to the women in control group, the women in ovarian endometriotic cystectomy sub-group had significantly higher levels of basal FSH and basal P, lower level of AMH (all P<0.05); the women in ovarian endometriotic cysts sub-group had significantly higher dose of gonadotropins (all P<0.05); the women in ovarian endometriotic cysts ≥5Y POST sub-group had significantly lower number of oocyte retrieved, lower number of embryo obtained, lower blastocyst transfer rate, and lower pregnancy rate (all P<0.05). Compared to the women in control group, the women in ovarian non-endometriotic cysts sub-group had a significantly higher level of basal FSH and basal P (all P<0.05). The women in ovarian non-endometriotic cysts sub-group had lower level of AMH, higher dose of gonadotropins, lower number of oocyte retrieved, lower number of embryo obtained, lower rate of blastocyst transfer and lower rate of pregnancy than the control group but there were no statistically significant differences among them (all P>0.05). The women with unilateral ovarian endometriotic cysts had significantly lower number of oocyte retrieved on the side of surgery than another side ( P<0.05). Conclusions:In short term laparoscopic ovarian cystectomy has no significant effect on ovarian reserve. But with long-term follow-up ovarian reserve, ovarian response to gonadotropin stimulation and pregnancy rate are decreased. The effect of laparoscopic ovarian cystectomy in benign cysts on ovarian is associated with whether or not it is the surgical side.

Objective:To investigate the effects of different partial deletions in azoospermia factor (AZF) locus of Y-chromosome on the clinical outcome of severe oligoasthenozoospermia patients by intracytoplasmic sperm injection (ICSI).Methods:A retrospective cohort study was conducted on the patients undergoing high-throughput sequencing for Y chromosome microdeletion screening and ICSI treatment in Reproductive Medicine Center of Henan Provincial People's Hospital from December 2017 to July 2020. According to whether carrying AZFc microdeletions or not, the patients were divided into the AZFc-deletion group and control group. And AZFc-deletion group was divided into 3 subgroups, b2/b3 deletion, b2/b4 deletion and gr/gr deletions subgroup, by the types of partial deletion.Results:The day 3 (D3) available embryo rate, the high-quality embryo rate, and the blastocyst formation rate in patients with AZFc deletion were statistically lower than those in control group [70.4% (556/790) vs. 78.5% (2867/3651), P<0.001; 24.7% (199/807) vs. 34.3% (1284/3747), P<0.001; 51.7% (277/536) vs. 58.0% (1540/2592), P=0.007], and there were no statistical differences in implantation rate, clinical pregnancy rate, live birth rate during transplantation cycle between the two groups (all P>0.05). The AZFc b2/b3 deletion subgroup had no significant differences in D3 available embryo rate, high-quality embryo rate, blastocyst formation rate, implantation rate, clinical pregnancy rate and live birth rate, compared with control group (all P>0.05). The rate of high-quality embryos in patients with the b2/b4 deletion subgroup [23.2% (32/138)] was lower than that of control group ( P=0.004), but there were no statistical differences in D3 available embryo rate, blastocyst formation rate, implantation rate, clinical pregnancy rate and live birth rate (all P>0.05). The D3 available embryo rate [71.6% (280/391)], the high-quality embryo rate [20.8% (84/403)] and the blastocyst formation rate [48.7% (133/273)] in patients of gr/gr deletion subgroup were significantly lower than those in control group ( P=0.002, P<0.001, P<0.001), but there were no statistical differences in implantation rate, clinical pregnancy rate and live birth rate (all P>0.05). Conclusion:AZFc b2/b3 deletion and b2/b4 deletion in the AZFc locus of Y chromosome have no significant effect on embryonic development and pregnancy outcome in patients with severe oligoasthenozoospermia undergoing ICSI. Gr/gr deletion has most adverse effect on embryonic development but no effect on pregnancy outcome.

Objective:To investigate the effects of different partial deletions in azoospermia factor (AZF) locus of Y-chromosome on the clinical outcome of severe oligoasthenozoospermia patients by intracytoplasmic sperm injection (ICSI).Methods:A retrospective cohort study was conducted on the patients undergoing high-throughput sequencing for Y chromosome microdeletion screening and ICSI treatment in Reproductive Medicine Center of Henan Provincial People's Hospital from December 2017 to July 2020. According to whether carrying AZFc microdeletions or not, the patients were divided into the AZFc-deletion group and control group. And AZFc-deletion group was divided into 3 subgroups, b2/b3 deletion, b2/b4 deletion and gr/gr deletions subgroup, by the types of partial deletion.Results:The day 3 (D3) available embryo rate, the high-quality embryo rate, and the blastocyst formation rate in patients with AZFc deletion were statistically lower than those in control group [70.4% (556/790) vs. 78.5% (2867/3651), P<0.001; 24.7% (199/807) vs. 34.3% (1284/3747), P<0.001; 51.7% (277/536) vs. 58.0% (1540/2592), P=0.007], and there were no statistical differences in implantation rate, clinical pregnancy rate, live birth rate during transplantation cycle between the two groups (all P>0.05). The AZFc b2/b3 deletion subgroup had no significant differences in D3 available embryo rate, high-quality embryo rate, blastocyst formation rate, implantation rate, clinical pregnancy rate and live birth rate, compared with control group (all P>0.05). The rate of high-quality embryos in patients with the b2/b4 deletion subgroup [23.2% (32/138)] was lower than that of control group ( P=0.004), but there were no statistical differences in D3 available embryo rate, blastocyst formation rate, implantation rate, clinical pregnancy rate and live birth rate (all P>0.05). The D3 available embryo rate [71.6% (280/391)], the high-quality embryo rate [20.8% (84/403)] and the blastocyst formation rate [48.7% (133/273)] in patients of gr/gr deletion subgroup were significantly lower than those in control group ( P=0.002, P<0.001, P<0.001), but there were no statistical differences in implantation rate, clinical pregnancy rate and live birth rate (all P>0.05). Conclusion:AZFc b2/b3 deletion and b2/b4 deletion in the AZFc locus of Y chromosome have no significant effect on embryonic development and pregnancy outcome in patients with severe oligoasthenozoospermia undergoing ICSI. Gr/gr deletion has most adverse effect on embryonic development but no effect on pregnancy outcome.