Objective:To evaluate the effect of Kuntai capsules combined with progestin-primed ovarian stimulation (PPOS) protocol on the ovarian response, laboratory parameters and embryo transfer outcomes of expected poor ovarian response (POR) patients undergoing invitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) cycles. Methods:A retrospective cohort study was performed at Center for Reproductive Medicine, Jiangxi Maternal and Child Health Hospital from June 2020 to July 2023. A total of 1 733 expected POR patients were enrolled and divided into the PPOS only group (control group) and the Kuntai capsules combined with PPOS regimen group (trial group). After a 1∶1 propensity score matching, 423 cases were included in each group. Further analyses and comparisons were made between the two groups, concerning the ovarian stimulation outcomes, embryo laboratory parameters and pregnancy rates after the first frozen-thawed embryo transfer cycles. The primary outcome measure was the number of oocytes retrieved.Results:No statistically significant difference was found in baseline characteristics after matching between the two groups (all P>0.05). Compared with control group, the number of oocytes retrieved did not differ significantly in the trial group ( P=0.295). The level of luteinizing hormone (LH) on the trigger day [3.3 (2.2, 5.0) U/L], the number of available blastocysts formed [1 (0, 1)] and the available blastocyst formation rate [46.2% (85/184)] in the trial group were significantly higher than those in control group [2.9 (1.9, 4.5) U/L, P=0.004; 0 (0, 1), P=0.034; 30.0% (48/160), P=0.002]. However, there were no significant differences in the duration and dosage of gonadotropin used, progesterone and estradiol levels on the trigger day, incidence of premature LH surge, number/rate of fertilized oocytes, number/rate of cleaved embryos, number/rate of high-quality embryos, as well as rate of unavailable embryos (all P>0.05). Compared with control group, the trial group demonstrated comparable implantation rate, clinical pregnancy rate, early miscarriage rate, ongoing pregnancy rate and live birth rate after the first frozen-thawed embryo transfer cycles (all P>0.05). Conclusion:Compared with the PPOS only regimen, the combination of Kuntai capsules and PPOS did not increase the number of oocytes retrieved but could increase the number and rate of available blastocysts formed in expected POR patients.

Objective:To explore the clinical application value of third-generation sequencing technology in preimplantation genetic testing (PGT) of an ATR-X syndrome pedigree with chromosomal microduplication.Methods:The study selected a pedigree with a suspected ATR-X syndrome child at Assisted Reproductive Center of Jiangxi Maternal and Child Health Hospital in October 2022. After chromosome copy number variation sequencing (CNV Seq) detection, it was found that the female carried a 550 kb heterozygous microrepeat with unclear clinical significance in the Xq21.1 region, which involved partial sequences of the ATRX gene. The third generation long read sequencing technology was used to detect the female genome sequence, determine the physical location of the insertion of the above repeat into the genome, clarify the pathogenicity of the repeat, and obtain a single nucleotide polymorphism (SNP) haplotype linked to the above micro repeat inheritance. After the couple's full informed consent, PGT was performed to assist pregnancy. One haploid embryo without pathogenic microduplication was selected for transfer. To verify the consistency with PGT test results, amniocentesis prenatal diagnosis was performed in the second trimester after successful pregnancy, and the fetus was followed up after birth. Results:The results of the third generation long read sequencing and Sanger sequencing verification showed that the Xq21.1 microrepeat carried by the female was inserted into the genome chrX: 76804463-76804464 (GRCh37/hg19), which is an intra tandem repeat of the ATRX gene, and it is predicted that it may cause damage to the normal function of the ATRX protein. After one cycle of PGT treatment, 27 oocytes were obtained and 13 blastocysts were successfully developed after intracytoplasmic sperm injection (ICSI). Through genetic testing, it was found that two blastocysts were haploid embryos without carrying the aforementioned pathogenic microduplication. After thawing and transferring one of the blastocysts, the pregnancy was achieved, and the prenatal diagnosis results of amniocentesis in the second trimester were consistent with the PGT results. In November 2023, at 39 +5 weeks of pregnancy, a female live baby was delivered by natural delivery, and she is in good health. Conclusion:The third-generation sequencing technology has significant advantages in PGT detection of clinically ambiguous microreplicates with functional deficiency due to its long read length characteristics. It can not only determine the location of microreplicates inserted into the genome and determine their pathogenicity, but also obtain SNP haplotypes that are linked to the target mutation, thus preparing for subsequent embryo detection.

Objective:To evaluate the effect of Kuntai capsules combined with progestin-primed ovarian stimulation (PPOS) protocol on the ovarian response, laboratory parameters and embryo transfer outcomes of expected poor ovarian response (POR) patients undergoing invitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) cycles. Methods:A retrospective cohort study was performed at Center for Reproductive Medicine, Jiangxi Maternal and Child Health Hospital from June 2020 to July 2023. A total of 1 733 expected POR patients were enrolled and divided into the PPOS only group (control group) and the Kuntai capsules combined with PPOS regimen group (trial group). After a 1∶1 propensity score matching, 423 cases were included in each group. Further analyses and comparisons were made between the two groups, concerning the ovarian stimulation outcomes, embryo laboratory parameters and pregnancy rates after the first frozen-thawed embryo transfer cycles. The primary outcome measure was the number of oocytes retrieved.Results:No statistically significant difference was found in baseline characteristics after matching between the two groups (all P>0.05). Compared with control group, the number of oocytes retrieved did not differ significantly in the trial group ( P=0.295). The level of luteinizing hormone (LH) on the trigger day [3.3 (2.2, 5.0) U/L], the number of available blastocysts formed [1 (0, 1)] and the available blastocyst formation rate [46.2% (85/184)] in the trial group were significantly higher than those in control group [2.9 (1.9, 4.5) U/L, P=0.004; 0 (0, 1), P=0.034; 30.0% (48/160), P=0.002]. However, there were no significant differences in the duration and dosage of gonadotropin used, progesterone and estradiol levels on the trigger day, incidence of premature LH surge, number/rate of fertilized oocytes, number/rate of cleaved embryos, number/rate of high-quality embryos, as well as rate of unavailable embryos (all P>0.05). Compared with control group, the trial group demonstrated comparable implantation rate, clinical pregnancy rate, early miscarriage rate, ongoing pregnancy rate and live birth rate after the first frozen-thawed embryo transfer cycles (all P>0.05). Conclusion:Compared with the PPOS only regimen, the combination of Kuntai capsules and PPOS did not increase the number of oocytes retrieved but could increase the number and rate of available blastocysts formed in expected POR patients.

Objective:To explore the clinical application value of third-generation sequencing technology in preimplantation genetic testing (PGT) of an ATR-X syndrome pedigree with chromosomal microduplication.Methods:The study selected a pedigree with a suspected ATR-X syndrome child at Assisted Reproductive Center of Jiangxi Maternal and Child Health Hospital in October 2022. After chromosome copy number variation sequencing (CNV Seq) detection, it was found that the female carried a 550 kb heterozygous microrepeat with unclear clinical significance in the Xq21.1 region, which involved partial sequences of the ATRX gene. The third generation long read sequencing technology was used to detect the female genome sequence, determine the physical location of the insertion of the above repeat into the genome, clarify the pathogenicity of the repeat, and obtain a single nucleotide polymorphism (SNP) haplotype linked to the above micro repeat inheritance. After the couple's full informed consent, PGT was performed to assist pregnancy. One haploid embryo without pathogenic microduplication was selected for transfer. To verify the consistency with PGT test results, amniocentesis prenatal diagnosis was performed in the second trimester after successful pregnancy, and the fetus was followed up after birth. Results:The results of the third generation long read sequencing and Sanger sequencing verification showed that the Xq21.1 microrepeat carried by the female was inserted into the genome chrX: 76804463-76804464 (GRCh37/hg19), which is an intra tandem repeat of the ATRX gene, and it is predicted that it may cause damage to the normal function of the ATRX protein. After one cycle of PGT treatment, 27 oocytes were obtained and 13 blastocysts were successfully developed after intracytoplasmic sperm injection (ICSI). Through genetic testing, it was found that two blastocysts were haploid embryos without carrying the aforementioned pathogenic microduplication. After thawing and transferring one of the blastocysts, the pregnancy was achieved, and the prenatal diagnosis results of amniocentesis in the second trimester were consistent with the PGT results. In November 2023, at 39 +5 weeks of pregnancy, a female live baby was delivered by natural delivery, and she is in good health. Conclusion:The third-generation sequencing technology has significant advantages in PGT detection of clinically ambiguous microreplicates with functional deficiency due to its long read length characteristics. It can not only determine the location of microreplicates inserted into the genome and determine their pathogenicity, but also obtain SNP haplotypes that are linked to the target mutation, thus preparing for subsequent embryo detection.

Mesalamine (5-aminosalicylic acid, 5-ASA) is used for ulcerative colitis, mild Crohn′s disease. The orally taken mesalamine is excreted primarily as N-acetyl-5-aminosalicylic acid (N-acetyl-5-ASA) via urine, renal damage and hematuria are rare. However, red-brown urine discoloration has been noted by some patients, which is associated with the reaction between N-acetyl-5-ASA and remaining hypochlorite in the disinfectant-containing water. This article reports a case of mesalamine-associated red-brown urine discoloration and reviews related literatures.

Mesalamine (5-aminosalicylic acid, 5-ASA) is used for ulcerative colitis, mild Crohn′s disease. The orally taken mesalamine is excreted primarily as N-acetyl-5-aminosalicylic acid (N-acetyl-5-ASA) via urine, renal damage and hematuria are rare. However, red-brown urine discoloration has been noted by some patients, which is associated with the reaction between N-acetyl-5-ASA and remaining hypochlorite in the disinfectant-containing water. This article reports a case of mesalamine-associated red-brown urine discoloration and reviews related literatures.

Objective To evaluate the effects of pyruvate Ringer' s solution on erythrocyte deformation function in the patients undergoing cardiopulmonary bypass (CPB) in vitro.Methods Thirteen patients of both sexes,aged 25-64 yr,of ASA physical status Ⅱ or Ⅲ (NAHY Ⅱ or Ⅲ),scheduled for elective cardiac valve replacement under CPB were enrolled in the study.At 10 and 60 min of CPB (T1,2) and 60 min after termination of CPB (T3),blood samples 18 ml were drawn from the radial artery and each patient's blood sample was equally divided into 6 parts (3 ml per part).The blood samples were divided into 3 groups (n =13 each):control group (group C),lactated Ringer's solution group (group R),and pyruvate Ringer's solution group (group P).In C,R and P groups,normal saline 1 ml,lactated Ringer's solution 1 ml,and pyruvate Ringer's solution 1 ml were added,respectively,and then the erythrocytes were incubated for 60 min at 37 ℃.At 30 and 60 min of incubation,the erythrocyte rigidity index (ERI) and erythrocyte deformation index (EDI) were detected.Results Compared with C and R groups,the ERI was significantly decreased at 30 and 60 min of incubation at T1,the EDI was decreased at 30 min of incubation at T1,2,and no significant change was found in ERI at T2,3 or in EDI at T3 in group P.There was no significant difference in ERI and EDI at different time points of incubation within groups.Conclusion Pyruvate Ringer's solution can enhance erythrocyte deformation function in the patients undergoing CPB.