Objective To study the effect of controlled ovarian Hyperstimulation(COH)on expression of AQP3 mRNA in mouse oocytes at metaphase Ⅱ. Methods Twenty female mice(6-7 weeks) were randomly allocated into 2 groups, mice in COH group were superovulated by intraperitoneal injection of 7.5 IU pregnant mare's serum gonadotropin(PMSG) followed by 5 IU human chorionic gonadotropin(HCG) after 46-48?h. Nothing was given to mice in control group and the estrus cycle was observed at 9?am everyday. 12-16?h following hCG injection (COH group) or at 8?am next day after the estrus (control group), mice were killed by cervical dislocation. The oviducts were excised.Cumulus masses were recovered from the dilated ampullae under a dissecting microscope,digested granulosa cells using hyaluronidase. Semi-quantitative real-time PCR of AQP3 mRNA in mouse MⅡoocytes was investigated with ?-actin as the internal control. Results Oocytes swelling assay showed that AQP3 mRNA expressed in mouse MⅡ oocytes. Using semi-quantitative real-time PCR, the expression of AQP3 mRNA was significantly decreased(P

Hypertension is an indep endent risk factor for stroke.Blood pressure variability is the result of the overall balance of in vivo dynamic regulation of the neuroendocrine system It is one of the essential characters of blood pressure.It is associated with the effects of the sensitivity of baroreceptor,physical activity,diseases and other factors.Blood pressure variability is closely associated with the target organ damage.An increasing number of studies have shown that blood pressure variability plays an important role in the occurrence and prognosis of stroke.It has a profound significance in the prevention and treatment of stroke.

Objectives To observe the genetic characteristics of chromosomes and the rates of implantation and pregnancy in couples of translocation carriers who undergo preimplantation genetic diagnosis (PGD) and to evaluate the significance of PGD in the treatment of translocation carriers. Methods Fluorescence in situ hybridization (FISH) was performed to analyze the embryos of 12 carriers of reciprocal translocation and 22 carriers of Robertsonian translocation. The results of diagnosis and the implantation and pregnancy rates were analyzed. Results A total of 253 embryos from 36 couples were retrieved and FISH was applied for the examination. The characteristics of chromosomes were diagnosed in 225 embryos and the rate of successful PGD was 88.9%. Fifty-eight embryos were found to have normal chromosome or balanced translocation and were transferred into the uterus. The rate of implantation was 36% (5/14) and 14% (6/44) and the rate of pregnancy was 4/9 and 26% (5/19) for carriers of Robertsonian translocation and reciprocal translocation, respectively. Conclusions The FISH-based PGD is effective in the diagnosis of Robertsonian translocation and reciprocal translocation of embryos. It provides the possibility of a high rate of implantation and pregnancy, and avoids recurrent abortion and unwilling termination of pregnancy.

Objective:To investigate the effect of Mindfulness-based stress reduction (MBSR) on perceived stress and mental state of patients with in vitro fertilization.Methods:83 cases women who were assisted reproduction with in vitro fertilization and embryo transfer (IVF-ET) in our hospital from May 2014 to December 2016 were selected as research objects.All the subjects were divided into control group and observation group according to the random number table method,with 41 cases in the control group and 42 cases in the observation group.Patients in the control group were given routine comprehensive nursing intervention,while the observation group was given MBSR intervention on the basis of the control group.The scores of self rating depression scale (SDS),self rating anxiety scale (SAS) and Chinese perceived stress scale (CPSS) before and after the intervention in the two groups were compared.Results:There was no significant difference in SDS score,SAS score and CPSS score between the two groups before intervention (P＞0.05).The scores of SDS,SAS and CPSS in observation group after intervention were (43.53± 4.89),(42.38± 4.34) and (27.53± 4.89),which were lower than (57.96± 7.30),(56.42± 5.49),(37.96± 7.30) before intervention,and the differences were statistically significant (P＜0.05).The scores ofSDS,SAS and CPSS in control group after intervention were (51.13± 5.52),(51.13± 5.52) and (31.13± 5.52),which were lower than (58.83± 7.28),(56.45± 5.51),(38.83± 7.28) before intervention,and the differences were statistically significant(P＜0.05).And those scores in were lower in observation group than in control group,the differences were statistically significant (P＜0.05).Conclusion:MBSR intervention can effectively improve the anxiety,depression and perceived stress of patients with in vitro fertilization,which is helpful in improving the success rate of IVF-ET,and it is worthy of clinical application.

In the past 20 years,molecular genetic technology has developed rapidly.The leap forward development of single-cell genetic diagnosis technologies represented by whole genome amplification combined with microarray technology or next-generation sequencing not only increased the accuracy of preimplantation genetic diagnosis (PGD) but also greatly expanded the variety and scope of detectable diseases.This paper systematically reviews the clinical application of PGD as well as recent progress of related technologies.

Objective To investigate whether routine laboratory findings should be awaited before intravenous thrombolytic therapy for ischemic stroke.Methods Emergency patients (including ischemic and non-ischemic stroke cases) treated at the Department of Neurology,Beijing Tsinghua Changgung Hospital between January 1st 2016 and October 1st 2017 were analyzed retrospectively.The platelet count,prothrombin time (PT),activated partial thromboplastin time (APTT),and international normalized ratio (INR) in the first test were used as the main indicators.The proportion of patients with abnormalities between the overall population and the ischemic stroke subgroup was analyzed,and the above indicators between all patients with ischemic stroke and those receiving intravenous thrombolytic therapy were compared.The specific causes of failure to receive intravenous thrombolytic therapy in patients with ischemic stroke were analyzed descriptively.Results A total of 3 348 patients were enrolled.The emergency blood routine data were available in all patients.The emergency blood biochemical data were available in 3 278 patients (97.9％),and the emergency coagulation function data were available 1 742 patients (52.0％).There were no significant differences in the proportion of platelet count ＜ 100 × 109/L (1.3％ vs.1.5％;x2=0.29,P=0.586),APTT＞36.5s (3.8％ vs.3.6％;x2=0.06,P=0.809),PT ＞15s (2.6％ vs.2.8％;x2 =0.03,P=0.866),and INR ＞ 1.5 (2.0％ vs.2.0％;x2 =0.01,P=0.970) between the general population and the ischemic stroke subgroup.In a total of 687 patients with ischemic stroke,57 (8.3％) received intravenous thrombolysis.There were no significant difference in mean platelet count,APTT,PT,and INR between the thrombolytic group and the entire ischemic stroke group.Forty-nine patients (5.1％) with ischemic stroke had abnormal main indicators,of which 57.1％ (28/49) had a history of related diseases at the same time,while only 6.1％ (3/49) had abnormal laboratory indicators as the main factor of contraindication for intravenous thrombolysis.Conclusions Patients with acute ischemic stroke (especially in the absence of a history of related disease) have a low proportion of abnormal blood test findings and are less likely to be the main contributor of contraindication for intravenous thrombolysis.Therefore,when there is no reason to suspect that the test findings are abnormal,intravenous thrombolytic therapy should not be delayed because of waiting for the test findings.

OBJECTIVE: To carry out prenatal diagnosis for families with high risk for spinal muscular atrophy (SMA) by using multiplex ligation-dependent probe amplification (MLPA). METHODS: Twenty-one families were enrolled. MLPA was used to detect copy numbers of SMN1 and SMN2 genes. Maternal contamination was excluded by using a short tandem repeat method. RESULTS: For 23 fetuses from the 21 families, 14 were identified as carriers, 1 as SMA patient, and 8 as normal. By linkage analysis of parental samples, three individuals were determined as silent (2+0) carriers. CONCLUSION MLPA can determine the carrier status of SMA. The identification of three silent (2+0) carriers among the 44 parental samples indicated a risk for such families, for which genetic counseling and reproduction guidance should be provided.
Female ; Genetic Counseling ; Heterozygote ; Humans ; Multiplex Polymerase Chain Reaction ; Muscular Atrophy, Spinal/genetics* ; Pregnancy ; Prenatal Diagnosis ; Survival of Motor Neuron 1 Protein/genetics*

Birth defects and rare diseases are serious challenges in China and even in the world, and most of them lack effective treatment. Preimplantation genetic testing (PGT) prevents the occurrence of this kind of disease at the source by carrying out genetic testing in the preimplantation stage and selecting normal embryos for transplantation. In this paper, the methods of PGT for birth defects and rare diseases and their latest progress are described.

Birth defects and rare diseases are serious challenges in China and even in the world, and most of them lack effective treatment. Preimplantation genetic testing (PGT) prevents the occurrence of this kind of disease at the source by carrying out genetic testing in the preimplantation stage and selecting normal embryos for transplantation. In this paper, the methods of PGT for birth defects and rare diseases and their latest progress are described.

OBJECTIVETo detect mosaic trisomy 9 missed by conventional cytogenetics.

METHODSPeripheral blood genomic DNA from a girl with mental retardation was analyzed using Affymetrix CytoScan (TM) HD array. Fluorescence in situ hybridization (FISH) was also performed on samples from two patients.

RESULTSThe SNP-array analysis has revealed multiple duplications along chromosome 9. FISH analysis showed that, for the peripheral blood sample from one patient, 40 of 100 interphase cells and 15 of 100 metaphase cells carried trisomy 9. For the cord blood sample from another patient, 35 of 100 interphase cells and 10 of 100 cultured cells carried trisomy 9.

CONCLUSIONSNP-array is useful for detecting low-level mosaicism which may be missed by conventional cytogenetics. Combined with karyotype and microarray analyses, FISH is a focused and targeted approach for diagnosing mosaic trisomy. They may provide a useful tool for differentiating pseudomosaicisms from true mosaicisms.

Adult ; Chromosomes, Human, Pair 9 ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Male ; Mosaicism ; embryology ; Oligonucleotide Array Sequence Analysis ; instrumentation ; methods ; Polymorphism, Single Nucleotide ; Pregnancy ; Prenatal Diagnosis ; Trisomy ; diagnosis ; genetics ; Uniparental Disomy ; cytology ; diagnosis ; genetics