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Advances on prenatal diagnosis of birth defects associated with genetic disorders
YAN Kai, JIN Fan
Journal of ZheJiang University(Medical Science), 2017, 46(3): 227-232.   https://doi.org/10.3785/j.issn.1008-9292.2017.06.01
Abstract( 49 )   HTML (   PDF(972KB)( 145 )

Birth defects have become a major public health concern in the world, which can be resulted from the harmful environmental factors, genetic mutations or their co-effects. Prenatal diagnosis or preimplantation diagnosis has been considered as the only effective way for the prevention of the birth of those defects. Besides karyotype analysis and fluorescence in situ hybridization, chromosomal microarray analysis and next generation sequencing or its derivatives are in common use. This article reviews the advances of the newly emerging molecular techniques in prenatal diagnosis of birth defects associated with genetic disorders.

Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up
HUANG Xinwen, ZHANG Yu, HONG Fang, ZHENG Jing, YANG Jianbin, TONG Fan, MAO Huaqing, HUANG Xiaolei, ZHOU Xuelian, YANG Rulai, ZHAO Zhengyan
Journal of ZheJiang University(Medical Science), 2017, 46(3): 233-239.   https://doi.org/10.3785/j.issn.1008-9292.2017.06.02
Abstract( 39 )   HTML (   PDF(1020KB)( 149 )

Objective:To analyze the result and follow-up data of screening for newborn amino acid metabolic disorders in Zhejiang province. Methods:A total of 1 861 262 newborns were screened for amino acid metabolic disorders during January 2009 and December 2016 in Zhejiang province. The screening results and the follow-up data were analyzed retrospectively. Results:One hundred and sixty four cases were diagnosed as amino acid metabolic disorders with a prevalence of 1:11 349, including 83 with hyperphenylalaninaemia (1:22 400), 29 with neonatal intrahepatic cholestasis caused by citrin deficiency (1:64 138), 16 with methionine S-adenosyltransferase deficiency (1:116 250), 9 with maple syrup urine disease (1:206 667), 8 with argininemia (1:232 500), 7 with citrullinemia type Ⅰ (1:265 700), 6 with hyperprolinemia type Ⅰ (1:310 000), and 2 with carbamylphosphate synthetase Ⅰ deficiency(1:930 000). In addition, ornithine transcarbamylase deficiency, cystathionine β-synthase deficiency, argininosucoinate aciduria and tyrosinemia type Ⅰ were detected in one patient for each, respectively. Two patients had developmental delay, 7 patients were dead, and 2 cases of maple syrup urine disease were lost to follow-up. Conclusions:Hyperphenylalaninaemia is the most common amino acid metabolic disease in newborns in Zhejiang province. Patients with amino acid metabolic disorders identified in newborn screening program can have chance for normal growth development by intervention.

Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up
HONG Fang, HUANG Xinwen, ZHANG Yu, YANG Jianbin, TONG Fan, MAO Huaqing, HUANG Xiaolei, ZHOU Xuelian, YANG Rulai, ZHAO Zhengyan
Journal of ZheJiang University(Medical Science), 2017, 46(3): 240-247.   https://doi.org/10.3785/j.issn.1008-9292.2017.06.03
Abstract( 43 )   HTML (   PDF(1028KB)( 87 )

Objective:To analyze the results and follow up data of screening for newborn organic aciduria in Zhejiang province. Methods:The results and follow-up data of 1 861 262 newborns from Zhejiang province undergoing screening for organic aciduria during January 2009 and December 2016 were retrospectively analyzed. The acylcarnitine spectrum in urine samples was detected by tandem mass spectrum (MS/MS) and the positive patients were confirmed by urine gas chromatography mass spectrometry and/or gene analysis. Results:Ninety two cases of organic aciduria were confirmed with a prevalence of 1:20 200. Among 40 cases of methylmalonic academia (MMA), 13 (32.5%) were of MMA simple type and 27 (67.5%) were combined type. Genetic analysis showed 6 cases of MUT type and 1 case of CblB type out of 7 patients with MMA simple type, 10 cases of CblC and 1 case of CblF out of 11 patients with combined type, respectively. Six patients had propionic academia with a prevalence of 1:310 200, 7 had isovaleric academia (1:265 900), 6 had glutaric academia type 1 (1:310 200), 27 had 3-methylcrotonyl-CoA carboxylase deficiency (MCC, 1:68 900), 1 had 3-hydroxy-3-methylglutaric aciduria (1:1 861 300), 2 had β-ketothiolase deficiency (1:960 600), and 3 had biotinidase deficiency/holocarboxylase synthetase deficiency (1:620 400). Thirty-one patients had a disease onset at neonatal period, and 15 at post-neonatal period. Thirty-three patients had brain involvements or cranial imaging disorders. Three patients with MMA had kidney diseases or heomlytic uremic syndrome, and 3 had myocardial impairments. Twenty patients died during the follow-up. Conclusion:MMA is the most common newborn organic aciduria in Zhejiang province. Except MCC, most organic aciduria may lead to metabolism decompensation, complications or even death.

Screening for fatty acid oxidation disorders of newborns in Zhejiang province:prevalence, outcome and follow-up
ZHENG Jing, ZHANG Yu, HONG Fang, YANG Jianbin, TONG Fan, MAO Huaqing, HUANG Xiaolei, ZHOU Xuelian, YANG Rulai, ZHAO Zhengyan, HUANG Xinwen
Journal of ZheJiang University(Medical Science), 2017, 46(3): 248-255.   https://doi.org/10.3785/j.issn.1008-9292.2017.06.04
Abstract( 32 )   HTML (   PDF(1038KB)( 124 )

Objective:To screen fatty acid oxidation disorders (FAOD) in newborns in Zhejiang province. Methods:A total of 1 861 262 newborns were screened for FAOD in Neonatal Screening Center of Zhejiang Province during January 2009 and December 2016. The blood samples from newborns were screened by tandem mass spectrometry, and diagnosis of FAOD was confirmed by urine organic acid measurement combined with genetic analysis. The prognosis and follow-up of patients with FAOD were also evaluated. Results:Of 1 861 262 newborns screened, 121 cases of FAOD were diagnosed. Among 121 cases of FAOD, primary carnitine deficiency (PCD) was the most common type (n=78, 64.5%), which was followed by short-chain acyl-CoA dehydrogenase deficiency (SCADD, n=27, 22.3%), medium-chain acyl-CoA dehydrogenase deficiency (n=5, 4.1%), multiple acyl-CoA dehydrogenase deficiency (MADD, n=4, 3.3%), very long-chain acyl-CoA dehydrogenase deficiency (n=3, 2.5%), carnitine palmitoyltransferase Ⅰ deficiency(n=2, 1.7%)and carnitine palmitoyltransferase Ⅱ deficiency (CPTⅡD, n=2, 1.7%). During 2-82 month follow-up, 15 patients were lost, 4 were dead (1 PCD, 1 MADD, and 2 CPTⅡD), and the remaining 102 subjects had normal intelligence and physical development without any clinical symptoms. Conclusions:PCD and SCADD are the most common FAODs in newborns in Zhejiang province. Most of FAOD patients are asymptomatic, and have normal growth and development after early intervention and management.

Detection of cell-free fetal DNA in maternal plasma for noninvasive prenatal screening of fetal chromosomal aneuploidies in women of advanced maternal age
ZHU Hui, MIAO Zhengyou, QIAN Yeqing, LI Hongge, JIN Jinglei, HE Jing, DONG Minyue
Journal of ZheJiang University(Medical Science), 2017, 46(3): 256-261.   https://doi.org/10.3785/j.issn.1008-9292.2017.06.05
Abstract( 34 )   HTML (   PDF(1000KB)( 81 )

Objective:To evaluate the efficiency of cell-free fetal DNA detection as a non-invasive prenatal screening (NIPS) method for women of advanced maternal age. Methods:A total of 10 584 women of advanced maternal age who received NIPS were recruited from the Women's Hospital, Zhejiang University School of Medicine and Jiaxing Maternal and Child Health Hospital during February 2015 and September 2016. The pregnancy outcome was followed-up. The sensitivity, specificity, positive and negative predictive value of fetal chromosomal aneuploidy detected in NIPS were analyzed. And the relationship between maternal age and fetal common chromosomal aneuploidy was analyzed. Results:The sensitivity, specificity, positive and negative predictive value of NIPS were 100.00%, 99.96%, 91.67%, 100.00% for trisomy 21, 100.00%, 99.93%, 68.18%, 100.00% for trisomy 18, and 100.00%, 99.97%, 25.00%, 100.00% for trisomy 13. High-risk rate and true positive rate of trisomy 21 were positively correlated with the maternal age (all P<0.01). There were significant differences in high-risk rate and true positive rate between 35-37 year old groups and 38-40 year old groups (all P<0.05). Such difference was also found in high-risk rate between 38-40 year old group and ≥ 41 year old group (P<0.05), but not in true positive rate between two groups (P>0.05). Conclusions:NIPS is effective for fetal chromosomal aneuploidy screening in women of advanced maternal age. For women under 38 years of age, NIPS is preferred; for women of 41 and above, invasive diagnostic methods are suggested; and for women between 38-41 years old, the option can be determined by themselves after risks and advantages were fully informed.

Single nucleotide polymorphism-array in genetic analysis of chorionic villi from early spontaneous miscarriages
SUN Yixi, LUO Yuqin, QIAN Yeqing, DONG Minyue, JIN Fan
Journal of ZheJiang University(Medical Science), 2017, 46(3): 262-267.   https://doi.org/10.3785/j.issn.1008-9292.2017.06.06
Abstract( 22 )   HTML (   PDF(2583KB)( 52 )

Objective:To assess the clinical application of single nucleotide polymorphism (SNP)-array in detecting abnormal chromosome karyotypes of chorionic villi from early spontaneous abortuses. Methods:A total of 861 chorionic villus samples from unexplained early spontaneous abortion were collected from Women's Hospital, Zhejiang University School of Medicine during October 2013 and June 2016, and SNP-array was performed to detect genome-wide DNA copy number variants. Results:All samples were successfully tested by SNP-array and 440 cases (51.10%) were found to have abnormal chromosome constitutions. Aneuploidy was identified in 358 (41.58%) cases, distributing in all chromosomes except chromosome 1. Triploidy and haploidy were found in 21 (2.44%) and one case (0.12%), respectively. Thirty-seven cases (4.30%) were identified as single chromosomal segment deletion or duplication, 25 of which were less than 10 Mb in size. For 6 of 25 cases with unclear pathogenesis, family studies were carried out to identify origin of deletion or duplication, showing that 4 cases were de novo and 2 were inherited from one of the parents. Twenty-three cases (2.67%) showed two chromosomal deletion/duplication segments. Combining with karyotyping and fluorescence in situ hybridization, 6 cases were identified as de novo aberration and 11 carried small-size segmental balanced abnormality. Conclusion:SNP-array can provide a relatively comprehensive genetic analysis of chorionic villi and can detect various kinds of chromosome abnormalities in spontaneous miscarriages.

Maternal serum alpha fetoprotein and free β-hCG of second trimester for screening of fetal gastroschisis and omphalocele
CHEN Yiming, ZHANG Wen, LU sha, MEI Jin, WANG Hao, WANG Shan, GU Linyuan, ZHANG Lidan, CHU Xuelian
Journal of ZheJiang University(Medical Science), 2017, 46(3): 268-273.   https://doi.org/10.3785/j.issn.1008-9292.2017.06.07
Abstract( 33 )   HTML (   PDF(1731KB)( 54 )

Objective:To assess the detection of maternal serum alpha fetoprotein (MSAFP) and free beta-HCG levels of second trimester for screening of fetal gastroschisis and omphalocele. Methods:Clinical data of 622 639 pregnant women from 5 prenatal screening centers in Hangzhou during October 2007 and September 2016 were analyzed retrospectively. Thirty cases of gastroschisis and 30 cases of omphalocele diagnosed by ultrasonography and postmortem findings were enrolled in the study and 116 cases of pregnant women with normal fetal development during the same period were selected as control group. The cut-off value and area under ROC curve (AUC) of MSAFP and free β-hCG for diagnosis of fetal gastroschisis and omphalocel were analyzed. Results:MSAFP levels of women with fetal gastroschisis and omphalocele were 4.41 (0.88-11.69) MOM and 2.31 (0.72-23.20) MOM, which were significantly higher than that of control group[0.98 (0.41-2.26) MOM, all P<0.01]. Free β-hCG level of women with fetal gastroschisis was 1.25 (0.35-19.94) MOM, which was significantly higher than that of control group[0.86 (0.17-6.11) MOM, P<0.05). But there were no significant difference in free β-hCG between fetal omphalocele group[1.03(0.21-8.95)]and control group (P>0.05). The AUCs of MSAFP for diagnosis of gastroschisis and omphalocele were 0.897 (95% CI:0.822-0.972) and 0.852(95% CI:0.762-0.942), respectively (all P<0.01). Taking 1.655 MOM as the cut-off value of MSAFP for abdominal wall defects (gastroschisis and omphalocele), the sensitivity was 68.30%, specificity was 99.60% and Youden index was 0.649. Conclusion:MSAFP of second trimester is a better biomarker than free β-hCG in screening abdominal wall defects.

Prenatal diagnosis of Joubert syndrome:one case report and literature review
WEN Hong, CHEN Lu, YAN Kai, HE Jing
Journal of ZheJiang University(Medical Science), 2017, 46(3): 274-278.   https://doi.org/10.3785/j.issn.1008-9292.2017.06.08
Abstract( 22 )   HTML (   PDF(2445KB)( 64 )

A 25-year-old nulliparity underwent prenatal ultrasonography, and the fetal cerebellar abnormality was suspected. The fetal MRI showed ‘molar tooth sign’ in midbrain and cerebellar vermis hypoplasia. The fetal cerebellar vermis hypoplasia was confirmed by MRI imaging and autopsy after induced abortion. The next-generation sequencing showed that the fetus had a heterozygous mutation of CC2D2A gene (c.2728C > T and c.4598T > C), which might be the cause of the disease.

Research progress on the safety of offsprings conceived by assisted reproductive technology
WANG Liya, QIAN Yeqing, JIN Fan
Journal of ZheJiang University(Medical Science), 2017, 46(3): 279-284.   https://doi.org/10.3785/j.issn.1008-9292.2017.06.09
Abstract( 26 )   HTML (   PDF(977KB)( 76 )

Assisted reproductive technology (ART) employs superovulation, in vitro culture and other micromanipulation to complete oocyte maturation, fertilization and early embryo development. Although these techniques have been successfully applied to solve infertility problems, the process may interfere in cell proliferation, differentiation and growth. The clinical and laboratory studies on the safety issue of ART are reviewed in this article. Studies found that the incidence of birth defects increased in ART offspring. Superovulation, in vitro culture and intracytoplasmic sperm injection may induce epigenetic aberrations during embryo development, which would influence the development of ART conceived children. The epigenetic susceptibility related to ART might be transmitted to subsequent generations, and the potential impact on ART offspring still need further investigation. In addition, ART treatments may also increase the risk of genetic diseases.

Correlation of fetuin-B concentrations in serum and follicular fluid with outcomes of in vitro fertilization
HU Xiaorui, MO Fengyi, MA Qing, CUI Long, LYU Pingping, YE Yinghui
Journal of ZheJiang University(Medical Science), 2017, 46(3): 285-289.   https://doi.org/10.3785/j.issn.1008-9292.2017.06.10
Abstract( 25 )   HTML (   PDF(1317KB)( 50 )

Objective:To investigate the relationship between serum/follicular fluid fetuin B levels and outcome of in vitro fertilization (IVF). Methods:Infertility women (28 with low fertilization rates, 44 with normal fertilization rates) receiving IVF in Women's Hospital of Zhejiang University School of Medicine during June and December 2016 were enrolled in the study. Serum/follicular fluid fetuin B levels were measured with ELISA method. Correlations of serum and follicular fetuin B level with fertilization outcome of IVF were analyzed with Pearson correlation coefficient and receiver operating characteristic (ROC) curve. Results:A positive correlation between serum fetuin B and follicular fluid fetuin B levels was observed (r=0.675, P<0.01). Both serum and follicular fluid fetuin B levels in women with low fertilization rates of IVF were lower than those in women with normal fertilization rates[(6.09±1.31) μg/mL vs. (7.13±1.47) μg/mL, t=3.050, P<0.05; (5.13±0.96)μg/mL vs. (6.22±1.33) μg/mL, t=3.755, P<0.01]. ROC analysis showed that the area under curve (AUC) of serum fetuin B level in predicting fertilization rate was 0.832 (95% CI:0.729-0.934, P<0.01), and 6.08 μg/mL could be used as cut-off value. Conclusion:Serum fetuin B level is correlated with follicular fluid fetuin B level, and it may be used for predicting the fertilization outcome of IVF.

Effect of oxygen concentration on outcome of in-vitro fertilization-embryo transfer
LI Enshu, YE Xiaoqun, FANG Li, YE Yinghui
Journal of ZheJiang University(Medical Science), 2017, 46(3): 290-294.   https://doi.org/10.3785/j.issn.1008-9292.2017.06.11
Abstract( 17 )   HTML (   PDF(993KB)( 49 )

Objective:To investigate the effect of low and high oxygen concentration on embryo development, pregnancy outcome and birth defects of in vitro fertilization-embryo transfer (IVF-ET). Methods:According to the oxygen concentration of in vitro culture environment, the IVF-ET performed in the Women's Hospital, Zhejiang University School of Medicine during 2013 and 2015 were divided into low oxygen concentration group (n=2036, 5% O2) and high oxygen concentration group (n=4617, 20% O2). The rate of fertilization, good quality embryo, clinical pregnancy, ectopic pregnancy, abortion and birth defect were compared between two groups. Results:The good quality embryo rate was significantly higher in the low oxygen concentration group (P<0.05). However, no significant differences were found between two groups in the rate of fertilization, clinical pregnancy, ectopic pregnancy, abortion and birth defect (all P>0.05). Conclusion:Low oxygen environment may improve the potential of embryonic development, but its impact on pregnancy outcome and birth defect is not significant.

Effects of embryo cryopreservation and thawing on clinical outcomes of transplantable embryos after cleavage-stage preimplantation genetic diagnosis or screening
SHI Biwei, CUI Long, YE Xiaoqun, YE Yinghui
Journal of ZheJiang University(Medical Science), 2017, 46(3): 295-299.   https://doi.org/10.3785/j.issn.1008-9292.2017.06.12
Abstract( 22 )   HTML (   PDF(977KB)( 47 )

Objective:To investigate the effects of embryo cryopreservation and thawing on clinical outcomes of transplantable embryos after preimplantation genetic diagnosis (PGD) or preimplantation genetic screening (PGS) in cleavage-stage. Methods:The clinical data of 302 cases (including 118 cases using frozen/thawing embryos and 184 cases using fresh embryos) undergoing PGD/PGS in Women's Hospital, Zhejiang University School of Medicine during January 2011 and December 2016 were retrospectively analyzed. The pregnancy rate, implantation rate, live birth rate and abortion rate of fresh and frozen-thawed embryo transfer (FET) cycles were compared. And the influencing factors for pregnancy outcome was analyzed by multivariate logistic regression. Results:The rate of normal or balanced translocation embryos in fresh cycle was higher than that in FET cycle (23.52% vs 16.67%, P<0.05), and the average number of transplanted embryos was more than that in FET cycle (1.54±0.56 vs 1.33±0.51, P<0.05). But there were no significant differences in pregnancy rate (36.42% vs 40.00%, P>0.05), implantation rate (26.62% vs 32.91%, P>0.05), abortion rate (19.44% vs 8.33%, P>0.05) and live birth rate (25.96% vs 28.33%, P>0.05) between fresh cycle and FET cycle. Multivariate logistic regression showed that, parent ages, embryo status (fresh or frozen), the mode of PGD/PGS and the findings of PGD/PGS had no impact on pregnancy outcome (all P>0.05). Conclusion:Cryopreservation do not have significant effects on the clinical outcomes of transplantable embryos after PGD/PGS in cleavage-stage.

Long-term effects of polycystic ovary syndrome on the offspring
SHEN Dan, WANG Fangfang, JIANG Zhou, QU Fan
Journal of ZheJiang University(Medical Science), 2017, 46(3): 300-304.   https://doi.org/10.3785/j.issn.1008-9292.2017.06.13
Abstract( 23 )   HTML (   PDF(954KB)( 52 )

Polycystic ovary syndrome (PCOS) is an endocrine disorder with reproductive dysfunction and abnormal metabolic syndrome. However, its etiology is unknown yet. Androgen hypersecretion is one of the main features of PCOS. It has been found that PCOS has various effects on the offspring in reproductive, metabolic and nervous systems, including:increasing secretion of gonadotropin-releasing hormone and luteinizing hormone, ovarian morphological changes and abnormal secretion of sex hormones, leading to disorders of lipid and glucose metabolism, and increasing the risks of depression and autism. However, there is still lack of direct evidence, and more studies should be conducted on the underlying mechanism in future.

Comparison of limus-eluting stent with paclitaxel-eluting stent for patients with coronary small vessel disease:a systematic review and meta-analysis
ZHANG Xiaoqun, WANG Qiwen, WANG Xin, XU Xiaolei, ZHU Jianhua
Journal of ZheJiang University(Medical Science), 2017, 46(3): 305-314.   https://doi.org/10.3785/j.issn.1008-9292.2017.06.14
Abstract( 29 )   HTML (   PDF(3622KB)( 86 )

Objective:To compare the efficacy of limus-eluting stent (LES) with paclitaxel-eluting stent (PES) for patients with coronary small vessel disease. Methods:The studies of LES and PES used for patients with coronary small vessel disease were searched in PubMed, Web of Science, ClinicalTrials, SinoMed, CNKI, Wanfang data and CQVIP. The relative risk (RR) estimates with 95% confidence intervals and other statistical variables were calculated with Stata 14.0, and the meta analysis was performed with RevMan 5.2. Results:Eight studies involving 4738 patients were included in the meta-analysis. Compared with PES, LES implantation was associated with significant reduction in major adverse cardiovascular events (RR=0.64, 95% CI:0.53-0.77, Z=4.59, P<0.01), myocardial infarction (RR=0.61, 95% CI:0.45-0.82; Z=3.24, P<0.01), stent thrombosis (RR=0.22, 95% CI:0.13-0.37, Z=5.71, P<0.01), and target lesion revascularization (RR=0.56, 95% CI:0.44-0.71, Z=4.72, P<0.01), while no difference was observed in cardiac death (RR=1.08, 95% CI:0.62-1.88, Z=0.26, P>0.05) and target vessel revascularization(RR=0.80, 95% CI:0.45-1.44, Z=0.74, P>0.05). Conclusion:LES has better efficacy than PES for patients with coronary small vessel disease, which may be the preferred stents for these patients.

Research progress on the relationship of brown adipose tissue with polycystic ovary syndrome
FU Xiaohua, XU Weihai, QIU Shengchun, SHU Jing
Journal of ZheJiang University(Medical Science), 2017, 46(3): 315-320.   https://doi.org/10.3785/j.issn.1008-9292.2017.06.15
Abstract( 28 )   HTML (   PDF(975KB)( 86 )

Brown adipose tissue (BAT) holds great promise for the prevention and treatment of metabolism diseases through thermoregulation. Polycystic ovary syndrome (PCOS) is a complex condition with anovulation, hyperandrogenism, and polycystic ovaries, and also manifests glucolipid metabolic disorders. Recent researches have shown that transplantation of BAT into a PCOS rat could significantly alleviate the phenotypes. This article reviews the role of BAT in pathogenesis of PCOS, which may provide information for prevention and treatment of PCOS.

The involvement of galectin-1 in implantation and pregnancy maintenance at the maternal-fetal interface
TANG Minyue, ZHU Yimin
Journal of ZheJiang University(Medical Science), 2017, 46(3): 321-327.   https://doi.org/10.3785/j.issn.1008-9292.2017.06.16
Abstract( 23 )   HTML (   PDF(1001KB)( 58 )

As a member of galectins family, galectin-1(Gal-1)is widely expressed in tissues and cells, and participates in a variety of physiological and pathological processes, such as cell adhesion, proliferation, apoptosis and inflammatory reaction. Recently, it has been found that Gal-1 is highly expressed at the maternal-fetal interface and plays important roles in trophoblast cell proliferation, differentiation and invasion, endometrial receptivity, placental angiogenesis and maternal-fetal immune tolerance. In this review, we outline the expression of Gal-1 at the maternal-fetal interface and the involvement of Gal-1 in embryo implantation and pregnancy maintenance, to provide novel insights for the early diagnosis, prognostic assessment and treatment of early pregnancy loss and pregnancy-related diseases.

Potential clinical application of Kisspeptin in reproductive endocrinology
FU Yanling, ZHU Yimin
Journal of ZheJiang University(Medical Science), 2017, 46(3): 328-333.   https://doi.org/10.3785/j.issn.1008-9292.2017.06.17
Abstract( 19 )   HTML (   PDF(979KB)( 99 )

Gonadotropin-releasing hormone (GnRH) plays an important role in the process of reproduction. Studies have shown that a family of peptides Kisspeptin can act on GnRH-related neurons, stimulating the secretion of GnRH, and activating the hypothalamic-pituitary-gonadal axis. Both animal experiments and clinical studies have shown that exogenous administration of Kisspeptin is able to induce physiological GnRH release in healthy individuals and those with endocrine-disorders, which brings great hope for treatment of reproductive endocrine diseases. The effect of Kisspeptin is similar to the physiological process in induction of ovulation and ovum maturation, leading to high security and efficiency for women receiving in vitro fertilization. Kisspeptin is involved in trophoblast invasion, so it may be useful for predicting pregnancy outcomes. In addition, Kisspeptin is the key hormone in the onset of puberty acting as a signal transducer in metabolism and reproduction, so it provides some directions for studies of polycystic ovary syndrome, hyperprolactinemia, and other metabolic-related reproductive endocrine diseases. This article reviews the character of Kisspeptin and the prospect of its application in treatment of reproductive endocrine diseases.

Advances in the application of high-throughput sequencing in clinical genetics
QIAN Yeqing, WANG Liya, LUO Yuqin, YAN Kai, DONG Minyue, JIN Fan
Journal of ZheJiang University(Medical Science), 2017, 46(3): 334-337.   https://doi.org/10.3785/j.issn.1008-9292.2017.06.18
Abstract( 22 )   HTML (   PDF(935KB)( 107 )
18 articles