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Objective:To analyze the clinical outcome of vitro fertilization/intracytoplasmic sperm injection-embryo transfer (IVF/ICSI-ET) in infertile patients with polycystic ovary syndrome (PCOS) combined with insulin resistance (IR) .Methods:A total of 257 PCOS infertile patients undergoing IVF/ICSI-ET from Jan. 2018 to Dec. 2020 were included and retrospectively analyzed. The patients were divided into IR group (HOMA-IR≥2.5, 130 cases) and non-IR group (HOMA-IR<2.5, 127 cases) according to the level (median 2.5) of homeostasis model assessment of insulin resistance index (HOMA-IR) . The levels of basic sex hormones [follicular stimulating hormone (FSH) , luteinizing hormone (LH) , estradiol (E2) , testosterone (T) , progestational hormone (P) , anti-mullerian hormone (AMH) ] and numbers of basic sinus follicles, levels of blood glucose and insulin at 30min, 60min and 120min after glucose administration and fasting and proconceptive pregnancy outcome indicators[gonadotropin (Gn) use time and dose, number of eggs obtained, fertilization rate, high-quality embryonic rate, occurrence rate of ovarian hyperstimulation syndrome (OHSS) , implantation rate, clinical pregnancy rate, biochemical pregnancy rate, abortion rate, live birth rate and pregnancy complications] were compared between the two groups. The influencing factors of clinical outcomes were analyzed by Logistic regression.Results:The levels of basic LH [ (8.86±1.60) mIU/ml vs (6.54±1.12) mIU/ml], T[ (63.20±7.47) ng/dl vs (52.11±5.69) ng/dl] in IR group was significantly higher than those in non-IR group ( P<0.05) . At different time-point, the levels of blood glucose and insulin in IR group were significantly higher than those in non-IR group ( P<0.05) . The Gn dose [ (1947.35±129.13) IU vs (1522.70±88.41) IU] and abortion rate [32.69% (17/52) vs 13.70% (10/73) ] in IR group was significantly higher than those in non-IR group ( P<0.05) , and the clinical pregnancy rate [40.00% (52/130) vs 57.48% (73/127) ] and live birth rate [51.92% (27/52) vs 72.60% (53/73) ] was significantly lower than those in non-IR group ( P<0.05) . Logistic regression analysis showed that age, BMI, basic LH, basic T and HOMA-IR was independent risk factors for clinical outcome of IVF/ICSI-ET in infertility patients with PCOS ( P<0.05) , and basic AMH and Gn dose were protective factors for clinical outcome ( P<0.05) . Conclusion:IR negatively affects the clinical outcome of IVF/ICSI-ET in infertile patients with PCOS, HOMA-IR is a risk factor for clinical outcomes, and IR should be evaluated in time for infertile patients with PCOS.
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Objective:To investigate the molecular mechanism of the disease based on the clinical characterization and genetic mutation analysis in a family with intellectual disability.Methods:The proband with intellectual disability was diagnosed at Luohe Central Hospital in December 2019. Peripheral blood samples were collected from four family members. Whole exome sequencing (WES) was used to screen the pathological mutations. Then the PCR and Sanger sequencing were used to verify the selected mutations and combine the relevant database to analyze variation loci.Results:We infer that the ARX c.1162 A>G was co-segregated with the phenotype of the family based on the results of WES. The results of sanger sequencing and WES are consistent. The mother of the proband is the carrier of the mutation. There is no mutation frequency reported in the healthy population. The mutation of the ARX c.1162A>G is harmful inferred by a variety of bioinformatics software. Combined with the phenotypic analysis of OMIM database, we infer the phenotype caused by the mutation is consistent with the patients in the family.Conclusion:The mutation of the ARX c.1162 A>G may be the cause of the intellectual disability in the family affected. And the variant has not been reported in China.
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Objective To assess the feasibility,safety and efficacy of endoscopic papillectomy (EP) for tumors at the ampulla of Vater (AV).Methods A total of 15 patients with tumor at AV that were indicated for EP were included in this prospective study.Their clinical profiles,procedural parameters and outcome were evaluated.Results All patients underwent EP procedure successfully.Four patients who were diagnosed as having chronic inflammation in the reference endoscopy were confirmed as having adenoma after EP.Out of the 11 patients who were previously diagnosed as andenoma on biopsy,2 of low differentiated adenocarcinoma,1 of well differentiated adenocarcinoma and 1 malignant transformation were pathologically confirmed after EP.Stents were implanted in 8 patients with dilated pancreatic and/or common bile duct.Except for 2 cases of melena and 2 transient elevated level of blood amylase after EP,no other major complications occurred.Three patients,including 1 case of low-differentiated adenocarcinoma,1 case of malignant transformation and 1 case of lesion residual,were referred to surgery,another patient with low-differentiated adenocarcinoma declined any additional intervention because of old age.In the remaining 11 cases ( 11/15,73.3％ ) including one well differentiated adenocarcinoma,no recurrence was observed during a follow-up period of 23.4 (5 to 47) months.Conclusion EP is a minimal invasive,safe and effective treatment for tumors at AV,which also can provide an accurate staging of the lesion.
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Objective To observe prospectively the role of endoscopic diagnosis and treatment of biliary leakages in patients with liver transplantation, and the incidence of bile duct stricture after healing of the leakage. Methods Six eases of T-tube leakage and seven cases of anastomosis leakage complicating liver transplantation were enrolled in this prospective study. Six patients treated by endoscopic plastic stent placement , 2 by naso-biliary catheter drainage, 2 by papillosphincterotomy and 3 by naso-biliary catheter drainage combined with plastic stent placement. Some patients received growth hormone treatment. Results The bile leak resolution time was between 10-35 days in 10 patients with complete document. The median time of leak resolution was 15. 3 days. Four cases of anastomosis stricture, three cases of common hepatic duct and one ease of multiple bile duct stenosis were observed by followed-up nasobiliary catheter cholangiography or ER-CP. Conclusion Endoscopic nasobiliary catheter or plastic stent placement is a safe and effective treatment for bile duct stricture occurred after bile leak resolution in most of liver transplantation patients. Naso-biliary catheter combined with plastic stent placement maybe the best choice for treating bile leak, because, theoretically, it may prevent serious condition happened at accidental nasobiliary catheter dislocation, and it may have prophylactic effect on upcoming bile duct stricture and should be further confirmed.
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Objective To explore the therapeutic effect of dual perfusion embolization and chemotherapy via hepatic artery and portal vein(combmation treatment) in the treatment of unresectable PHC.Methods Eighty-one cases of unresectable PHC were randomly divided into two gronps: (1) Combination treatment group.Forty-one cases,These cases received embolization and chemotherapy via hepatic artery and portal vein through a drug delivery system intraoperatively,and then embolization and chemotherapy via the drug pump were given periodically. (2) TACE group.Forty cases.These cases were treated with Seldinger's technique, the dosage of drugs were the same as used in the former group during laparotomy. After 3 times of treatment, AFP, the size of tumor, liver function, body weight, abdominal perimeter, survival time of the two groups were compared.Results The weight, AFP, decrease of tumour size in combination group were much better than those in TACE group( P 0.05). The median survival time in the two groups were 18.0 months and 11.1 months ( P =0.0001). The accumulating survival rate of 6, 9, 12, 24 months were 87.8%, 78.0% , 68.2%,31.7% in combination group, and 70.0%, 52.5%, 30.0%, 5.0% in TACE group, respectively . The factors affecting survival were therapeutic method, liver function, size of tumour.Conclusions Combination treatment is simple, convenient with less complications, and the effect is better than TACE. So it is an effective method for the unresectable hepatic carcinoma.