Objective:To investigate the status of allostatic load (AL) in patients with polycystic ovary syndrome (PCOS) and its influence on the clinical outcomes of in vitro fertilization-embryo transfer.Methods:This was a prospective study. By using convenient sampling method, 421 patients with PCOS (PCOS group) and 372 control infertility patients (control group) in the Reproductive Center of the First Affiliated Hospital of Anhui Medical University from April 2022 to January 2024 were investigated for basic information, physical examination, laboratory examination and follow-up of clinical outcomes. The total score of AL was calculated using 16 related indicators of cardiovascular system, metabolic system and immune system, and AL>3 was used as the judgment criteria for the high level AL group and the low level AL group. The differences in general data, embryo development and clinical outcomes between the groups were compared.Results:There were 222 cases (52.7%, 222/421) in PCOS low level AL group and 199 cases (47.3%, 199/421) in PCOS high level AL group. There were 214 patients (57.5%, 214/372) in the control low level AL group and 158 patients (42.5%, 158/372) in the control high level AL group. Embryo development outcomes: number of oocytes retrieved (median: 12, 12, 19, 14, respectively; P<0.001), number of two pronuclei (median: 8, 7, 11, 8, respectively; P<0.001), number of fertilization (median: 9, 9, 13, 10, respectively; P<0.001), number of metaphase of meiosis Ⅱ oocytes (median: 9, 8, 13, 10, respectively; P<0.001), number of transferable embryos (median: 5, 5, 7, 6, respectively; P<0.001), number of high-quality embryos (median: 4, 3, 6, 5, respectively; P<0.001), gonadotropin(Gn) starting dosage (median: 150, 200, 150, 200 U, respectively; P<0.001), total dosage of Gn (median: 1 800, 2 075, 1 575, 2 025 U, respectively; P<0.001), duration of Gn used (median: 10, 10, 10, 10 days, respectively; P=0.027) in the control low level AL group, control high level AL group, PCOS low level AL group and PCOS high level AL group were significantly different. Pairings between groups showed that number of oocytes retrieved, number of two pronuclei, number of fertilization, number of metaphase of meiosis Ⅱ oocytes and number of transferable embryos in PCOS high level AL group were lower than those in PCOS low level AL group (all P<0.05); Gn starting dosage and total dosage of Gn in PCOS low level AL group were lower than those in the other three groups (all P<0.05); duration of Gn used in PCOS high level AL group was higher than that PCOS low level AL group ( P<0.05). Clinical outcomes: the control low level AL group, control high level AL group, PCOS low level AL group and PCOS high level AL group underwent fresh transplantation [27.4% (57/208), 24.4% (38/156), 15.1% (32/212), 17.1% (33/193), respectively; P=0.006] and the proportion of transplanted day 5 embryos [82.7% (172/208), 77.6% (121/156), 91.0% (193/212), 86.5% (167/193), respectively; P=0.018] were statistically significant. There were no significant differences in fertilization rate, biochemical pregnancy rate, clinical pregnancy rate, multiple pregnancy rate and early abortion rate among the four groups (all P>0.05). Conclusion:The high level of AL in PCOS patients may affect the outcomes of embryo development, and more attention should be paid to AL in PCOS patients to reduce stress.

Objective To develop and evaluate dietary and exercise intervention program for over-weight/obese patients with polycystic ovary syndrome(PCOS).Methods Seventy patients with over-weight/obese PCOS were prospectively selected as research subjects and divided into intervention group(n=35)and control group(n=35)according to random number table method.According to the completion of the intervention plan,29 cases were finally included in the intervention group and 28 cases in the control group.The control group was given conventional nursing intervention,while the intervention group was applied with the diet and exercise intervention program for overweight/obese patients with PCOS.Both groups were intervened for 3 months.The physical indicators,PCOS sign scores,natural pregnancy rate,degree of self-body image distress(Multidimensional Self-body Im-age Relationship Questionnaire-Appearance Subscale)and self-efficacy level(Self-efficacy Scale)before and after the intervention were compared between the two groups.The occurrence of adverse reactions during the intervention period between the two groups were compared.Results After 1 month and 3 months of intervention,the body mass index(BMI)and PC OS sign score of the pa-tients in the intervention group were significantly lower than those in the control group(P＜0.05).The natural conception rate of the intervention group was 34.48％(10/29),which was significantly higher than 10.71％(3/28)of the control group(P＜0.05).After 1 month and 3 months of inter-vention,the scores of the self-body image relationship-appearance subscale of the patients in the inter-vention group were significantly higher than those in the control group(P＜0.001).After 3 months of intervention,the score of the Self-efficacy Scale of patients in the intervention group was significantly higher than that in the control group(P＜0.001).During the intervention period,no adverse reac-tions caused by diet and exercise intervention occurred in either group.Conclusion Implementing a diet and exercise intervention program for overweight/obese patients with PCOS is beneficial for re-ducing patients' BMI,increasing the natural pregnancy rate,improving self-body image disorders,and enhancing self-efficacy.

Objective:To investigate the status of allostatic load (AL) in patients with polycystic ovary syndrome (PCOS) and its influence on the clinical outcomes of in vitro fertilization-embryo transfer.Methods:This was a prospective study. By using convenient sampling method, 421 patients with PCOS (PCOS group) and 372 control infertility patients (control group) in the Reproductive Center of the First Affiliated Hospital of Anhui Medical University from April 2022 to January 2024 were investigated for basic information, physical examination, laboratory examination and follow-up of clinical outcomes. The total score of AL was calculated using 16 related indicators of cardiovascular system, metabolic system and immune system, and AL>3 was used as the judgment criteria for the high level AL group and the low level AL group. The differences in general data, embryo development and clinical outcomes between the groups were compared.Results:There were 222 cases (52.7%, 222/421) in PCOS low level AL group and 199 cases (47.3%, 199/421) in PCOS high level AL group. There were 214 patients (57.5%, 214/372) in the control low level AL group and 158 patients (42.5%, 158/372) in the control high level AL group. Embryo development outcomes: number of oocytes retrieved (median: 12, 12, 19, 14, respectively; P<0.001), number of two pronuclei (median: 8, 7, 11, 8, respectively; P<0.001), number of fertilization (median: 9, 9, 13, 10, respectively; P<0.001), number of metaphase of meiosis Ⅱ oocytes (median: 9, 8, 13, 10, respectively; P<0.001), number of transferable embryos (median: 5, 5, 7, 6, respectively; P<0.001), number of high-quality embryos (median: 4, 3, 6, 5, respectively; P<0.001), gonadotropin(Gn) starting dosage (median: 150, 200, 150, 200 U, respectively; P<0.001), total dosage of Gn (median: 1 800, 2 075, 1 575, 2 025 U, respectively; P<0.001), duration of Gn used (median: 10, 10, 10, 10 days, respectively; P=0.027) in the control low level AL group, control high level AL group, PCOS low level AL group and PCOS high level AL group were significantly different. Pairings between groups showed that number of oocytes retrieved, number of two pronuclei, number of fertilization, number of metaphase of meiosis Ⅱ oocytes and number of transferable embryos in PCOS high level AL group were lower than those in PCOS low level AL group (all P<0.05); Gn starting dosage and total dosage of Gn in PCOS low level AL group were lower than those in the other three groups (all P<0.05); duration of Gn used in PCOS high level AL group was higher than that PCOS low level AL group ( P<0.05). Clinical outcomes: the control low level AL group, control high level AL group, PCOS low level AL group and PCOS high level AL group underwent fresh transplantation [27.4% (57/208), 24.4% (38/156), 15.1% (32/212), 17.1% (33/193), respectively; P=0.006] and the proportion of transplanted day 5 embryos [82.7% (172/208), 77.6% (121/156), 91.0% (193/212), 86.5% (167/193), respectively; P=0.018] were statistically significant. There were no significant differences in fertilization rate, biochemical pregnancy rate, clinical pregnancy rate, multiple pregnancy rate and early abortion rate among the four groups (all P>0.05). Conclusion:The high level of AL in PCOS patients may affect the outcomes of embryo development, and more attention should be paid to AL in PCOS patients to reduce stress.

Objective:To exlplore the association between the baseline luteinizing hormone/follicle stimulating hormone (LH/FSH) ratio of polycystic ovary syndrome (PCOS) and in vitro fertilisation-embryo transfer outcomes.Methods:This was a retrospective cohort study. A total of 2 868 PCOS patients were enrolled, all of the participants were patients in The First Affiliated Hospital of Anhui Medical University Hospital from October 2015 to October 2021. Propensity score matching (1∶2.5) was conducted to regulate the non-random allocation of patients. Data were extracted from the hospital′s medical records. Patients with baseline LH/FSH ratio>2 were deemed as study group, patients with baseline LH/FSH ratio≤2 were deemed as control group. Single factor analysis was applied to compare the differences of pregnancy outcomes between two groups.Results:After propensity score matching (1∶2.5), there were no statistically significant differences in baseline data between the two groups (all P>0.05), indicating that the data were comparable. In the study group, the total dose of gonadotropin (Gn) and duration of Gn were lower than those of the control group ( t=4.989, P<0.001; t=3.267, P=0.001), the rate of in vitro maturation was higher than that of the control group ( χ2=4.938, P=0.026), the number of retrieved oocytes and cleavage were higher than those of the control group ( t=-2.305, P=0.021; t=-2.816, P=0.005), but there were no differences in the number and rate of high-quality embryos between the two groups ( t=-1.636, P=0.102; t=-0.123, P=0.902). The incidence of moderate to severe ovarian hyperstimulation syndrome in the study group was significantly higher than that in the control group ( χ2=17.277, P<0.001). Regardless of fresh embryo transfer or frozen-thawed embryo transfer cycles, the incidences of gestational diabetes mellitus in the study group were higher than those in the control group ( χ2=9.174, P=0.002; χ2=4.204, P=0.040) of singleton pregnancy. In the fresh embryo transfer cycle, the clinical pregnancy rate [30.30% (20/66) vs 47.75% (53/111)] and delivery rate [30.30% (20/66) vs 46.85% (52/111)] in the study group were lower than those in the control group ( χ2=5.198, P=0.023; χ2=4.695, P=0.030). In the frozen-thawed embryo transfer cycle, the delivery rate in the study group was higer than that in the control group [59.41% (423/712) vs 55.04% (1 053/1 913); χ2=7.526, P=0.023]. The clinical pregnancy rate and delivery rate of fresh embryo transfer cycle in the study group were significantly lower than those of frozen-thawed embryo transfer cycle ( χ2=21.308, P<0.001; χ2=20.871, P<0.001), but there were no significant differences in the control group (all P>0.05). Conclusions:PCOS patients with a higher basal LH/FSH ratio are more likely to develop moderate to severe ovarian hyperstimulation syndrome after controlled ovarian stimulation and have a higher incidence of gestational diabetes mellitus. Better pregnancy outcome could be obtained by frozen-thawed embryo transfer.

Objective:To investigate the influence of polycystic ovary syndrome (PCOS) patients with different body mass index (BMI) on perinatal and neonatal outcomes of frozen-thawed embryo transfer.Methods:A retrospective cohort study was performed on the clinical data of patients with PCOS infertility who underwent cryopreservation transplantation in Reproductive Center of the First Affiliated Hospital of Anhui Medical University from 2016 to 2020. The clinical pregnancy was singleton, a total of 1 481 cycles were divided into 4 groups according to BMI value. There were 75 cycles in the underweight group (BMI<18.5 kg/m 2), 793 cycles in the normal weight group (18.5 kg/m 2≤BMI<24.0 kg/m 2), 468 cycles in the overweight group (24.0 kg/m 2≤BMI<28.0 kg/m 2), 145 cycles in the obese group (BMI≥28.0 kg/m 2). The differences of general information, perinatal outcome and neonatal outcome were compared among the four groups. Results:Compared with the overweight group, the normal weight group and the underweight group, the obesity group had the highest early abortion rate [23.4% (34/145) vs. 15.8% (74/468) vs. 14.0% (111/793) vs. 9.3% (7/75), P=0.014], and the lowest live birth rate [68.3% (99/145) vs. 76.7% (359/468) vs. 79.7% (632/793) vs. 88.0% (66/75), P=0.003]. The incidence of gestational diabetes in the obesity group and the overweight group [6.9% (10/145) and 4.5% (21/468)] was higher than that in the normal weight group [2.3% (18/793)] (the obesity group vs. the normal weight group P=0.005, the overweight group vs. the normal weight group P=0.028). The rate of cesarean section in the obesity group and the overweight group [81.8% (81/99), 74.9% (269/359)] was higher than that in the normal weight group [67.6% (427/632)] and the underweight group [57.6% (38/66), the obesity group vs. the normal weight group P=0.005, the obesity group vs. the underweight group P=0.001, the overweight group vs. the normal weight group P=0.015, the overweight group vs. the underweight group P=0.004]. The macrosomia birth rate [18.2% (18/99), 15.6% (56/359)] was also higher than that of the normal weight group [10.1% (64/632)] and the underweight group [6.1% (4/66), the obesity group vs. the normal weight group P=0.018, the obesity group vs. the underweight group P=0.025, the overweight group vs. the normal weight group P=0.011, the overweight group vs. the underweight group P=0.041]. There were no significant differences in late abortion rate, gestational hypertension, ectopic pregnancy and premature birth rate, Apgar score, height and birth defects (all P>0.05). Conclusion:Obesity and overweight affect the perinatal outcomes and neonatal outcomes in patients with PCOS. In clinical work, attention should be paid to the weight management of PCOS patients.

Objective:To investigate the influence of polycystic ovary syndrome (PCOS) patients with different body mass index (BMI) on perinatal and neonatal outcomes of frozen-thawed embryo transfer.Methods:A retrospective cohort study was performed on the clinical data of patients with PCOS infertility who underwent cryopreservation transplantation in Reproductive Center of the First Affiliated Hospital of Anhui Medical University from 2016 to 2020. The clinical pregnancy was singleton, a total of 1 481 cycles were divided into 4 groups according to BMI value. There were 75 cycles in the underweight group (BMI<18.5 kg/m 2), 793 cycles in the normal weight group (18.5 kg/m 2≤BMI<24.0 kg/m 2), 468 cycles in the overweight group (24.0 kg/m 2≤BMI<28.0 kg/m 2), 145 cycles in the obese group (BMI≥28.0 kg/m 2). The differences of general information, perinatal outcome and neonatal outcome were compared among the four groups. Results:Compared with the overweight group, the normal weight group and the underweight group, the obesity group had the highest early abortion rate [23.4% (34/145) vs. 15.8% (74/468) vs. 14.0% (111/793) vs. 9.3% (7/75), P=0.014], and the lowest live birth rate [68.3% (99/145) vs. 76.7% (359/468) vs. 79.7% (632/793) vs. 88.0% (66/75), P=0.003]. The incidence of gestational diabetes in the obesity group and the overweight group [6.9% (10/145) and 4.5% (21/468)] was higher than that in the normal weight group [2.3% (18/793)] (the obesity group vs. the normal weight group P=0.005, the overweight group vs. the normal weight group P=0.028). The rate of cesarean section in the obesity group and the overweight group [81.8% (81/99), 74.9% (269/359)] was higher than that in the normal weight group [67.6% (427/632)] and the underweight group [57.6% (38/66), the obesity group vs. the normal weight group P=0.005, the obesity group vs. the underweight group P=0.001, the overweight group vs. the normal weight group P=0.015, the overweight group vs. the underweight group P=0.004]. The macrosomia birth rate [18.2% (18/99), 15.6% (56/359)] was also higher than that of the normal weight group [10.1% (64/632)] and the underweight group [6.1% (4/66), the obesity group vs. the normal weight group P=0.018, the obesity group vs. the underweight group P=0.025, the overweight group vs. the normal weight group P=0.011, the overweight group vs. the underweight group P=0.041]. There were no significant differences in late abortion rate, gestational hypertension, ectopic pregnancy and premature birth rate, Apgar score, height and birth defects (all P>0.05). Conclusion:Obesity and overweight affect the perinatal outcomes and neonatal outcomes in patients with PCOS. In clinical work, attention should be paid to the weight management of PCOS patients.

OBJECTIVE: To detect variants of the MMACHC gene among 110 ethnic Han Chinese pedigrees affected with metabolic deficiency methylmalonic acidemia (MMA) of cobalamin C (cblC). METHODS: Peripheral blood samples were collected from the probands and their parents. Following DNA extraction, the coding regions of the MMACHC gene were subjected to PCR amplification, Sanger sequencing and quantitative PCR assaying. For 48 pedigrees, chorionic villus samples were taken for prenatal genetic diagnosis. RESULTS: Thirty five types of variants were detected among the 110 pedigrees, which included missense, nonsense, frameshifting, splicing variants and exonic deletions. Most variants have occurred in exons 4 (73.18%). The detection rate for c.609G>A (p.Trp203Ter) variant was the highest (33.64%), followed by c.658_660delAAG (12.27%), c.567dupT (9.09%) and c.80A>G (6.82%). Two variants, namely c.57_58insT (p.Gly20Trpfs*14) and c.505_506delAT (p.Ile169Argfs*12), were unreported previously and both were of frameshifting types. For the 48 pedigrees undergoing prenatal diagnosis, 14 fetuses were found to be normal, 24 have carried heterozygous variants, the remaining 10 have carried compound heterozygous or homozygous variants. CONCLUSION The discovery of the two novel variants has expanded the spectrum of the MMACHC gene variants among ethnic Han population. Above finding has provide a basis for the prenatal diagnosis and genetic counseling for the affected pedigrees.
Amino Acid Metabolism, Inborn Errors/genetics* ; China ; DNA ; Female ; Humans ; Mutation ; Oxidoreductases/genetics* ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Vitamin B 12/genetics*

Abnormal activation of Wnt signaling pathway is closely related to the occurrence of tumor, and T cell factor 4 (Tcf4 ) and beta-catenin are important signal transmission factors of this pathway. The aim of the present study is to explore the significance and correlation between expression of Tcf4, beta-catenin and secreted frizzled related protein 1(SFRP1), suppressor gene of Wnt signaling pathway, in colorectal carcinoma and their correlations to the clinicopathological factors. The expressions of Tcf4, beta-catenin and SFRP1 were performed with immunohistochemistry staining in 97 cases of primary colorectal carcinoma and 40 cases of normal colorectal mucosa tissues. The results showed that the abnormal expression rates of Tcf4 and beta-catenin in colorectal carcinoma were significantly higher than those in the control groups (P<0.01). The positive rate of SFRP1 was significantly lower than those in the control groups (P<0.01). The abnormal expression rates of Tcf4 and beta-catenin were also related to the lymph node metastasis and Dukes stage (P<0.05). A significant correlation was found between the expressions of SFRP1 and Tcf4, beta-catenin (P<0.05). Overexpression of Tcf4 and beta-catenin was related to poor prognosis (P<0.05). But the survival rates of the group with SFRP1 expressions were higher than those in group without SFRP1 expressions (P<0.05). Cox multifactor regression analysis indicated that Dukes stage, expression of beta-catenin and SFRP1 were independent risk factors of colorectal carcinoma (P<0.05). The results suggested that the abnormal expression of Tcf4 and beta-catenin in colorectal cancer may be related to the reduced or absent expression of SFRP1. beta-catenin accumulation in the nuclei formed complexes with Tcf4 is one of the important molecular switch maintaining colorectal malignant phenotype. The combined detection of these indexes may perform an important role in predicting the progression and prognosis of colorectal cancer, and could provide new molecular targets for gene treatment of colorectal cancer.
Carcinoma ; metabolism ; Colorectal Neoplasms ; metabolism ; Disease Progression ; Humans ; Intercellular Signaling Peptides and Proteins ; metabolism ; Lymphatic Metastasis ; Membrane Proteins ; metabolism ; Phenotype ; Prognosis ; Risk Factors ; Transcription Factor 7-Like 2 Protein ; metabolism ; Wnt Signaling Pathway ; beta Catenin ; metabolism

9α-hydroxy-4-androstene-3,17-dione (9-OH-AD) is an important intermediate in the steroidal drugs production. 3-ketosteroid-9α-hydroxylase (KSH), a two protein system of KshA and KshB, is a key-enzyme in the microbial steroid ring B-opening pathway. KSH catalyzes the transformation of 4-androstene-3,17-dione (AD) into 9-OH-AD specifically. In the present study, the putative KshA and KshB genes were cloned from Mycobacterium smegmatis mc(2)155 and Gordonia neofelifaecis NRRL B-59395 respectively, and were inserted into the expression vector pNIT, the co-expression plasmids of kshA-kshB were obtained and electroporated into Mycobacterium sp. NRRL B-3805 cells. The recombinants were used to transform steroids, the main product was characterized as 9α-hydroxy-4-androstene-3,17-dione (9-OH-AD), showing that kshA and kshB were expressed successfully. Different from the original strain Mycobacterium sp. NRRL B-3805 that accumulates 4-androstene-3,17-dione, the recombinants accumulates 9α-hydroxy-4-androstene-3,17-dione as the main product. This results indicates that the putative genes kshA, kshB encode active KshA and KshB, respectively. The process of biotransformation was investigated and the results show that phytosterol is the most suitable substrate for biotransformation, kshA and kshB from M. smegmatis mc(2)155 seemed to exhibit high activity, because the resultant recombinant of them catalyzed the biotransformation of phytosterol to 9-OH-AD in a percent conversion of 90%, which was much higher than that of G. neofelifaecis NRRL B-59395. This study on the manipulation of the ksh genes in Mycobacterium sp. NRRL B-3805 provides a new pathway for producing steroid medicines.
Androstenedione ; analogs & derivatives ; biosynthesis ; Bacterial Proteins ; genetics ; metabolism ; Biotransformation ; Ketosteroids ; Mixed Function Oxygenases ; genetics ; metabolism ; Mycobacterium ; metabolism ; Mycobacterium smegmatis ; enzymology ; Plasmids

Objective To investigate clinical effects of nursing intervention on the patients with pterygium surgery.Methods Based on different nursing methods and with the knowledge and consent of the patients, 67 cases of pterygium were divided into the observation group (35 cases) and the control group (32 cases) .All the patients received pterygium excision surgery combined with au-toallergic corneal limbus stem cell transplantation under local anesthesia.The patients in the control group received routine care, while the patients in the observation group received perioperative nursing intervention in addition to routine care.Results As compared with the control group, the observation group had higher degree of satisfaction, less operation time, more stable blood pressure during the op-eration, less healing time of cornea epithelium after operation (the observation group=(3.2 ±0.4)d, the control group=(5.2 ±0.7) d).There were no recurrent cases in the observation group, while the control group had one recurrence.Conclusion Nursing interven-tion could effectively shorten operation time, decrease surgical risks, promote healing of corneal surgical wound, improve postoperative symptoms, decrease recurrence and enhance therapeutic effects.