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1.
J Med Genet ; 2019 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-31439719

RESUMO

BACKGROUND: Preimplantation genetic testing (PGT) has already been applied in patients known to carry chromosomal structural variants to improve the clinical outcome of assisted reproduction. However, conventional molecular techniques are not capable of reliably distinguishing embryos that carry balanced inversion from those with a normal karyotype. We aim to evaluate the use of long-read sequencing in combination with haplotype linkage analysis to address this challenge. METHODS: Long-read sequencing on Oxford Nanopore platform was employed to identify the precise positions of inversion break points in four patients. Comprehensive chromosomal screening and genome-wide haplotype linkage analysis were performed based on SNP microarray. The haplotypes, including the break point regions, the whole chromosomes involved in the inversion and the corresponding homologous chromosomes, were established using informative SNPs. RESULTS: All the inversion break points were successfully identified by long-read sequencing and validated by Sanger sequencing, and on average only 13 bp differences were observed between break points inferred by long-read sequencing and Sanger sequencing. Eighteen blastocysts were biopsied and tested, in which 10 were aneuploid or unbalanced and eight were diploid with normal or balanced inversion karyotypes. Diploid embryos were transferred back to patients, the predictive results of the current methodology were consistent with fetal karyotypes of amniotic fluid or cord blood. CONCLUSIONS: Nanopore long-read sequencing is a powerful method to assay chromosomal inversions and identify exact break points. Identification of inversion break points combined with haplotype linkage analysis is an efficient strategy to distinguish embryos with normal or balanced inversion karyotypes, facilitating PGT applications.

2.
Ecotoxicol Environ Saf ; 182: 109376, 2019 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-31254851

RESUMO

Phenanthrene (PHE) is a tricyclic polycyclic aromatic hydrocarbon which distributed extensively in the aquatic environment. However, the knowledge about its impact on fish reproduction is still limited, particularly under a chronic exposure regime. In this study, we exposed zebrafish (Danio rerio) embryos to environmentally relevant concentrations (0.2, 1.0, and 5.0 µg/L) of PHE for 4 months and assessed the impact on reproduction. The results demonstrated that egg production was decreased in fish exposed to PHE, with a significant reduction at 5.0 µg/L. The exposure significantly decreased the circulating concentrations of estradiol (E2) and testosterone (T) in female fish or E2 in male fish. In addition, plasma vitellogenin levels were significantly inhibited after PHE exposure in female fish. The transcription of hypothalamic-pituitary-gonadal (HPG) axis related genes (GnRH2, FSHß, LHß, 17ß-HSD, CYP11A1, and CYP19a) were significantly altered in a sex-specific manner. In addition, embryos derived from exposed parents exhibited increased malformation and decreased hatching success in the F1 generation. Taken together, these results demonstrate that chronic exposure to environmentally relevant concentration of PHE could cause adverse effects on reproduction and impair the development of offspring, ultimately leading to fish population decline in aquatic environment.

3.
J Med Genet ; 56(7): 471-480, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30877238

RESUMO

BACKGROUND: Successful human reproduction requires normal spermatogenesis, oogenesis, fertilisation and early embryonic development, and abnormalities in any of these processes will result in infertility. Early embryonic arrest is commonly observed in infertile patients with recurrent failure of assisted reproductive technology (ART). However, the genetic basis for early embryonic arrest is largely unknown. OBJECTIVE: We aim to identify genetic causes of infertile patients characterised by early embryonic arrest. METHODS: We pursued exome sequencing in a proband with embryonic arrest from the consanguineous family. We further screened candidate genes in a cohort of 496 individuals diagnosed with early embryonic arrest by Sanger sequencing. Effects of mutations were investigated in HeLa cells, oocytes and embryos. RESULTS: We identified five independent individuals carrying biallelic mutations in NLRP2. We also found three individuals from two families carrying biallelic mutations in NLRP5. These mutations in NLRP2 and NLRP5 caused decreased protein expression in vitro and in oocytes and embryos. CONCLUSIONS: NLRP2 and NLRP5 are novel mutant genes responsible for human early embryonic arrest. This finding provides additional potential diagnostic markers for patients with recurrent failure of ART and helps us to better understand the genetic basis of female infertility characterised by early embryonic arrest.

4.
Microb Biotechnol ; 12(3): 502-514, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30838800

RESUMO

Aerobic composting is a bacteria-driven process to degrade and recycle wastes. This study quantified the kinetics of bacterial growth and decay during pig manure-wheat straw composting, which may provide insights into microbial reaction mechanisms and composting operations. First, a propidium monoazide-quantitative polymerase chain reaction (PMA-qPCR) method was developed to quantify the viable bacteria concentration of composting samples. The optimal PMA concentration and light exposure time were 100 µM and 8 min respectively. Subsequently, the concentrations of total and decayed bacteria were quantified. Viable and decayed bacteria coexisted during the entire composting period (experiments A and B), and the proportion of viable bacteria finally fell to only 35.1%. At the beginning, bacteria grew logarithmically and decayed rapidly. Later, the bacterial growth in experiment A remained stable, while that of experiment B was stable at first and then decomposed. The duration of the stable stage was positively related to the soluble sugar content of composting materials. The logarithmic growth and rapid decay of bacteria followed Monod equations with a specific growth (0.0317 ± 0.0033 h-1 ) and decay rate (0.0019 ± 0.0000 h-1 ). The findings better identified the bacterial growth stages and might enable better prediction of composting temperatures and the degree of maturation.


Assuntos
Bactérias/crescimento & desenvolvimento , Esterco/microbiologia , Viabilidade Microbiana , Triticum/metabolismo , Aerobiose , Animais , Carga Bacteriana/métodos , Compostagem , Caules de Planta/metabolismo , Reação em Cadeia da Polimerase em Tempo Real/métodos , Suínos , Fatores de Tempo
5.
BMC Med Genomics ; 12(1): 52, 2019 03 18.
Artigo em Inglês | MEDLINE | ID: mdl-30885195

RESUMO

BACKGROUND: Preimplantation genetic testing (PGT) has already been applied in chromosomally balanced translocation carriers to improve the clinical outcome of assisted reproduction. However, traditional methods could not further distinguish embryos carrying a translocation from those with a normal karyotype prior to implantation. METHODS: To solve this problem, we developed a method named "Chromosomal Phasing on Base level" (BasePhasing), which based on Infinium Asian Screening Array-24 v1.0 (ASA) and a specially phasing pipeline. Firstly, by comparing the number of single nucleotide polymorphism (SNP) loci in different minor allele frequencies (MAFs) and in 2Mbp continuous windows of ASA chip and karyomap-12 chip, we verified whether ASA could be adopted for genome-wide haplotype linkage analysis. Besides, the whole gene amplification (WGA) of 3-10 cells of GM16457 cell line was used to verify whether ASA chip could be used for testing of WGA products. Finally, two balanced translocation families were utilized to carry out BasePhasing and to validate the feasibility of its clinical application. RESULTS: The average number of SNP loci in each window of ASA (473.2) was twice of that of Karyomap-12 (201.2). The coincidence rate of SNP loci in genomic DNA and WGA products was about 97%. The 5.3Mbp deletion was detected positively in cell line GM16457 of both genomic DNA and WGA products, and haplotype linkage analysis was performed in genome wide successfully. In the two balanced translocation families, 18 blastocysts were analyzed, in which 8 were unbalanced and the other 10 were balanced or normal chromosomes. Two embryos were transferred back to the patients successfully, and prenatal cytogenetic analysis of amniotic fluid was performed in the second trimester. The results predicted by BasePhasing and prenatal diagnosis were totally consistent. CONCLUSIONS: Infinium ASA bead chip based BasePhasing pipeline shows good performance in balanced translocation carrier testing. With the characteristics of simple operation procedure and accurate results, we demonstrate that BasePhasing is one of the most suitable methods to distinguish between balanced and structurally normal chromosome embryos from translocation carriers in PGT at present.

6.
Sci Transl Med ; 11(485)2019 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-30918116

RESUMO

Connexins and pannexins are two protein families that play an important role in cellular communication. Pannexin 1 (PANX1), one of the members of pannexin family, is a channel protein. It is glycosylated and forms three species, GLY0, GLY1, and GLY2. Here, we describe four independent families in which mutations in PANX1 cause familial or sporadic female infertility via a phenotype that we term "oocyte death." The mutations, which are associated with oocyte death, alter the PANX1 glycosylation pattern, influence the subcellular localization of PANX1 in cultured cells, and result in aberrant PANX1 channel activity, ATP release in oocytes, and mutant PANX1 GLY1. Overexpression of a patient-derived mutation in mice causes infertility, recapitulating the human oocyte death phenotype. Our findings demonstrate the critical role of PANX1 in human oocyte development, provide a genetic explanation for a subtype of infertility, and suggest a potential target for therapeutic intervention for this disease.

7.
Hum Genet ; 138(4): 327-337, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30810869

RESUMO

The human zona pellucida (ZP) is an extracellular glycoprotein matrix composed of ZP1, ZP2, ZP3, and ZP4 surrounding the oocyte, and it plays an important role in sperm-egg interactions during fertilization. Structural and functional changes in the ZP can influence the process of fertilization and lead to female infertility. Previous studies have identified mutations in ZP1, ZP2, and ZP3 that lead to female infertility caused by oocyte degeneration, empty follicle syndrome, or in vitro fertilization failure. Here we describe seven patients from six independent families who had several abnormal oocytes or suffered from empty follicle syndrome, similar to the previously reported phenotypes. By whole-exome sequencing and Sanger sequencing, we identified several novel mutations in these patients. These included three homozygous mutations in ZP1 (c.1708G > A, p.Val570Met; c.1228C > T, p.Arg410Trp; c.507del, p.His170Ilefs*52), two mutations in a compound heterozygous state in ZP1 (c.1430 + 1G > T, p.Cys478X and c.1775-8T > C, p.Asp592Glyfs*29), a homozygous mutation in ZP2 (c.1115G > C, p.Cys372Ser), and a heterozygous mutation in ZP3 (c.763C > G, p.Arg255Gly). In addition, studies in CHO cells showed that the mutations in ZP1, ZP2, and ZP3 might affect the corresponding protein expression, secretion, and interaction, thus providing a mechanistic explanation for the phenotypes. Our study expands the spectrum of ZP gene mutations and phenotypes, and provides a further understanding of the pathogenic mechanism of ZP gene mutations in vitro.


Assuntos
Infertilidade Feminina/genética , Mutação , Glicoproteínas da Zona Pelúcida/genética , Zona Pelúcida/patologia , Adulto , Animais , Células CHO , Consanguinidade , Cricetinae , Cricetulus , Análise Mutacional de DNA , Feminino , Humanos , Infertilidade Feminina/patologia , Masculino , Folículo Ovariano/anormalidades , Folículo Ovariano/patologia , Linhagem , Síndrome , Zona Pelúcida/metabolismo
8.
Clin Genet ; 95(4): 520-524, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30628060

RESUMO

Successful fertilization is fundamental for sexual reproduction. After undergoing a series of molecular and morphological changes, the haploid sperm fuses with the haploid oocyte to create a diploid zygote. Defects in this process might lead to human fertilization failure. We have previously found homozygous mutations in WEE2 that are responsible for human fertilization failure, but the genetic basis of human fertilization failure requires further investigation. In the present study, we screened for WEE2 mutations in a new cohort of patients with fertilization failure. Through Sanger sequencing of WEE2 exons, we identified seven novel mutations and two reported mutations in WEE2 from six affected individuals. Morphologically normal PB1 oocytes can be retrieved from all patients. However, most of the oocytes cannot be fertilized successfully. These findings confirmed our previous research and expanded the mutational spectrum of WEE2, making it a potential genetic diagnostic marker for those suffering from human fertilization failure.

9.
Eur J Hum Genet ; 2018 Oct 08.
Artigo em Inglês | MEDLINE | ID: mdl-30297906

RESUMO

Human oocyte maturation is a precondition for fertilization and ensuing embryonic development. Previously, we identified TUBB8 variants as a genetic determinant of human oocyte maturation arrest and showed that these variants cause variable and mixed phenotypes in oocyte maturation and early embryo development. We also estimated that rare inherited or de novo variants in the TUBB8 gene accounted for 30% of individuals in a small cohort of patients affected by oocyte maturation arrest. In the present study, we recruited a further 87 patients from unrelated families diagnosed with oocyte maturation or early embryonic arrest and identified 30 patients carrying TUBB8 variants. The corresponding phenotypes not only include oocyte maturation arrest, failure of fertilization, and early embryonic arrest, but also extend to the new phenotype of failure of embryo implantation. These observations provide the most detailed mutational and phenotypic spectrum of TUBB8, further extend the spectrum of variants and dysfunctional oocyte and embryo phenotypes caused by TUBB8 variants, and confirm previous findings for a critical role of TUBB8 during oocyte maturation and early embryonic development. Thus, TUBB8 mutation screening might not only be a genetic diagnostic marker for patients with oocyte maturation arrest, but might also have clinical implications for evaluating the competence of patients' functional oocytes with first polar body (PB1).

10.
Bioresour Technol ; 268: 633-637, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30142616

RESUMO

This study explored the effects of different particle sizes of rice straw biochar (RSB) on the methane emissions of pig manure/wheat straw aerobic composting experiments to provide a theoretical suggestion for biochar application. The experiments were conducted with a control group, powder (<1 mm) group, and granular (4 mm-1 cm) group. Methane emissions increased by 56.84% in the powder group but decreased by 22.15% in the granular group during the aerobic composting. Methane was generated by methanogens and methanotrophs in the specific anaerobic micro-environment characterized by X-ray micro-computed tomography (micro-CT). The porosity of initial composting samples increased by 4.02% in the granular group but decreased by 3.88% in the powder group. RSB additives typically reduced the mcrA/pmoA ratio and increased the diversity of Bacteria and Archaea. Conclusively, granular biochar benefits to aerobic composting to alleviate the CH4 emissions.


Assuntos
Carvão Vegetal , Compostagem , Metano , Animais , Esterco , Solo , Suínos , Triticum , Microtomografia por Raio-X
11.
Appetite ; 129: 135-142, 2018 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-29981804

RESUMO

In individuals with healthy weight and overweight, the level of food cravings experienced is closely related to the individual's attentional bias to food cues. Furthermore, an attentional bias toward food cues, especially high-calorie food cues, is often accompanied by poor eating habits, overweight or obesity, eating disorders, and other problems. Therefore, this study aimed to explore the effect of attentional bias modification on the eating behavior of women craving high-calorie food. Sixty-five female college students with a high level of craving for high-calorie foods were randomly assigned to a training group (attended to images of low-calorie food) and a control group (attended equally to images of high- and low-calorie food). An attentional re-training paradigm was used in the training session to modify the participants' attentional bias to these food cues. Compared to the control group, attentional bias to high-calorie food cues in the training group was significantly reduced after training (p < 0.05). The training group consumed less high-calorie food and more low-calorie food than the control group (p < 0.05) in a post-training taste test. However, there was no significant difference between the groups in their level of food cravings (p > 0.05). These findings suggest that attentional bias modification training is a promising brief intervention to improve eating behavior and develop healthy eating habits.

12.
Environ Sci Technol ; 52(15): 8408-8418, 2018 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-29984574

RESUMO

Nitrous oxide (N2O) emission during composting causes nitrogen loss and air pollution. The interpretation of N2O emission mechanisms will help to customize composting strategies that mitigate climate change. At pile and particle scales, this study characterized N2O emission-related variables (gases, ions, and microbes) and their correlations during pig manure-wheat straw aerobic composting. Pile-scale results showed that N2O emission mainly occurred in mesophilic, thermophilic, and cooling phases; the nitrification by ammonia-oxidizing bacteria ( AOB) and nitrite-oxidizing bacteria ( NOB) coexisted with the denitrification by denitrificans ( DEN); the major NOB and DEN were Nitrobacter ( NOB_Nba) and Thiobacillus denitrificans ( DEN_Tb), respectively. The mechanisms of nitrification, nitrifier denitrification, and anaerobic denitrification in composting particles were initially visualized by confocal laser scanning microscopy: Betaproteobacteria ( AOB_ Beta) sporadically distributed on the outer area of the particles, NOB_Nba internally attached to AOB_ Beta, and Nitrosomonas europea/ Nitrosomonas eutropha ( AOB_eu) and DEN_Tb concentrated in the interior. Correlation analysis of the variables showed that the distribution area of AOB_eu was proportional to N2O emission ( R2 = 0.84); AOB not only participated in nitrification but also nitrifier denitrification, and N2O formation was mainly from nitrifier denitrification by AOB_eu during the mesophilic-thermophilic phase and from denitrification by AOB_eu and DEN during the cooling phase.

13.
Prev Med ; 114: 102-106, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29953897

RESUMO

We examined the use of automated voice recognition (AVR) messages targeting smokers from primary care practices located in underserved urban and rural communities to promote smoking cessation. We partnered with urban and rural primary care medical offices (n = 7) interested in offering this service to patients. Current smokers, 18 years and older, who had completed an office visit within the previous 12 months, from these sites were used to create a smoker's registry. Smokers were recruited within an eight county region of western New York State between June 2012 and August 2013. Participants were contacted over six month intervals using the AVR system. Among 5812 smokers accrued 1899 (32%) were reached through the AVR system and 55% (n = 1049) continued to receive calls. Smokers with race other than white or African American were less likely to be reached (OR = 0.71, 0.57-0.90), while smokers ages 40 and over were more likely to be reached. Females (OR = 0.78, 0.65-0.95) and persons over age 40 years were less likely to opt out, while rural smokers were more likely to opt out (OR = 3.84, 3.01-4.90). Among those receiving AVR calls, 30% reported smoke free (self-reported abstinence over a 24 h period) at last contact; smokers from rural areas were more likely to report being smoke free (OR = 1.41, 1.01-1.97). An AVR-based smoking cessation intervention provided added value beyond typical tobacco cessation efforts available in these primary care offices. This intervention required no additional clinical staff time and served to satisfy a component of patient center medical home requirements for practices.

14.
Clin Proteomics ; 15: 19, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29719495

RESUMO

Background: Semen cryopreservation has been widely applied in assisted reproductive technologies and sperm bank, but it causes considerable impairments on sperm quality. It is necessary to find an evaluation indicator for determining the sperm-freezing tolerance. Methods: The glycocalyx of good freezability ejaculates was compared with poor freezability ejaculates by lectin microarray. The significant different lectins were validated by flow cytometry (FACS). To analyze the relationship between the potential biomarker and the tolerance of sperm to cryopreservation, 60 samples with different recovery rates were collected and detected the lectin-binding intensity by FACS. The receiver operating characteristic (ROC) curve was analyzed to test the capability of the lectin as a potential biomarker for detecting the sperm freezablility. Results: ABA and DSL were found to develop significant differences between them. Further validation showed that ABA was significantly negative correlated with the sperm recovery rates (r = - 0.618, P < 0.000) and could be a potential biomarker for predicting sperm freezability (AUC = 0.733 ± 0.067, 95% CI 0.601 - 0.865, P < 0.01). Conclusion: ABA could be a potential biomarker for predicting sperm freezability. It will help to reduce sperm-freezing recovery tests and improve the efficiency of cryopreservation in human sperm bank.

15.
Fertil Steril ; 109(5): 849-856, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29778384

RESUMO

OBJECTIVE: To evaluate the impact of assisted reproductive technology (ART) on the offspring of Chinese population. DESIGN: Retrospective, data-linkage cohort. SETTING: Not applicable. PATIENT(S): Live births resulting from ART or natural conception. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Birth defects coded according to ICD-10. RESULT(S): Births after ART were more likely to be female and multiple births, especially after intracytoplasmic sperm injection (ICSI). ART was associated with a significantly increased risk of birth defects, especially, among singleton births, a significantly increased risk in fresh-embryo cycles after in vitro fertilization (IVF) and frozen-embryo cycles after ICSI. Associations between ART and multiple defects, between ART and gastrointestinal malformation, genital organs malformation, and musculoskeletal malformation among singleton births, and between ART and cardiac septa malformation among multiple births were observed. CONCLUSION(S): This study suggests that ART increases the risk of birth defects. Subgroup analyses indicate higher risk for both fresh and frozen embryos, although nonsignificantly for frozen embryos after IVF and for fresh embryos were presented with low power. Larger sample size research is needed to clarify effects from fresh- or frozen-embryo cycles after IVF and ICSI.

16.
BMJ Open ; 8(5): e020507, 2018 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-29773699

RESUMO

INTRODUCTION: Frozen-thawed embryo transfer (FET) has become an increasingly important part of in-vitro fertilisation (IVF) treatment. Currently, there is still no good scientific evidence to support when to perform FET following a stimulated IVF cycle. Since all published studies are retrospective and the findings are contradictory, a randomised controlled study is needed to provide Level 1 evidence to guide the clinical practice. METHODS/ANALYSIS: This is a randomised controlled trial. A total of 724 women undergoing the first FET following ovarian stimulation in IVF will be enrolled and randomised according to a computer-generated randomisation list to either (1) the immediate group in which FET will be performed in the first cycle following the stimulated IVF cycle or (2) the delayed group in which FET will be performed at least in the second cycle following the stimulated IVF cycle. The primary outcome is the ongoing pregnancy defined as a viable pregnancy beyond 12 weeks' gestation. ETHICS AND DISSEMINATION: Ethical approval has been granted by the Ethics Committee of Assisted Reproductive Medicine in Shanghai JiAi Genetics & IVF Institute (JIAI E2017-12) and from the Institutional Review Board of the University of Hong Kong Hospital Authority Hong Kong West Cluster (UW 17-371). A written informed consent will be obtained from each woman before any study procedure is performed, according to good clinical practice. The results of this trial will be disseminated in a peer-reviewed journal. TRIAL REGISTRATION NUMBER: NCT03201783;Pre-results.

17.
Reprod Biomed Online ; 37(1): 25-32, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29703434

RESUMO

RESEARCH QUESTION: Are miRNAs found in follicular fluid related to blastocyst formation from the corresponding oocytes? DESIGN: In this study, 91 individual follicular fluid samples from single follicles containing mature oocytes from 91 women were collected and classified into group 1 (n = 38) with viable blastocysts, and group 2 (n = 53) with no blastocyst. TaqMan human miRNA cards and quantitative reverse transcription polymerase chain reaction were used to identify differently expressed follicular fluid miRNAs between the two groups. RESULTS: We found MIR-663B to be significantly differentially expressed in follicular fluid of oocytes that yielded viable blastocysts versus those that did not develop into blastocysts (14.16 ± 7.00 versus 23.68 ± 17.02; P = 0.019), as well as for those which develop into blastocysts with good morphology versus those with poor morphology (11.69 ± 3.49 versus 20.16 ± 9.33; P = 0.003). CONCLUSIONS: MIR-663B expression levels in human follicular fluid samples were significantly negatively related to viable blastocyst formation and may become an objective evaluation criterion for embryo development potential after IVF.


Assuntos
Blastocisto/metabolismo , Desenvolvimento Embrionário/genética , Líquido Folicular/metabolismo , MicroRNAs/metabolismo , Adulto , Feminino , Humanos , MicroRNAs/genética , Oócitos/metabolismo , Oogênese/fisiologia , Injeções de Esperma Intracitoplásmicas
18.
Reprod Fertil Dev ; 2018 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-29614240

RESUMO

Ectonucleotide pyrophosphatase-phosphodiesterase 3 (ENPP3), a protein detected in the human uterus, has been found to play an important role in the development and invasion of tumours. It was recently discovered that ENPP3 was upregulated during the window of implantation in the human endometrium but its functional relevance remains elusive. The objective was to determine ENPP3 expression in human endometrium and its roles in endometrial receptivity and embryo implantation. ENPP3 expression was analysed using immunohistochemistry and western blot assay. The effects of ENPP3 on embryo implantation were evaluated using a BeWo cell (a human choriocarcinoma cell line) spheroid attachment assay and BeWo cells were dual cultured with Ishikawa cells transfected with lentiviral vectors (LV5-NC or LV5-ENPP3) to mimic embryo implantation in a Transwell model. The effects of endometrial ENPP3 on factors related to endometrial receptivity were also determined. The results showed that ENPP3 was expressed in human endometrial epithelial cells and its expression levels changed during the menstrual cycle, peaking in the mid-secretory phase, corresponding to the time of embryo implantation. The overexpression of endometrial ENPP3 not only increased the embryo implantation rate but also had positive effects on the expression of factors related to endometrial receptivity in human endometrial cells. The results indicate that ENPP3 levels undergo cyclic changes in the endometrium and affect embryo adhesion and invasion via altering the expression of implantation factors in the human endometrium. Therefore, ENPP3 may play an important role in embryo implantation and may be a unique biomarker of endometrial receptivity.

19.
Bioresour Technol ; 259: 221-227, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29558720

RESUMO

Bacteria play an important role in organic matter degradation and maturity during aerobic composting. This study analyzed composting with or without a membrane cover in laboratory-scale aerobic composting reactor systems. 16S rRNA gene analysis was used to study the bacterial community succession during composting. The richness of the bacterial community decreased and the diversity increased after covering with a semi-permeable membrane and applying a slight positive pressure. Principal components analysis based on operational taxonomic units could distinguish the main composting phases. Linear Discriminant Analysis Effect Size analysis indicated that covering with a semi-permeable membrane reduced the relative abundance of anaerobic Clostridiales and pathogenic Pseudomonas and increased the abundance of Cellvibrionales. In membrane-covered aerobic composting systems, the relative abundance of some bacteria could be affected, especially anaerobic bacteria. Covering could effectively promote fermentation, reduce emissions and ensure organic fertilizer quality.


Assuntos
Compostagem , Esterco , Triticum , Animais , Bactérias , RNA Ribossômico 16S , Solo , Suínos
20.
Hum Reprod ; 33(4): 757-767, 2018 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-29579270

RESUMO

STUDY QUESTION: Do specific factors affect the segregation patterns of a quadrivalent structure and can the quadrivalent affect genome stability during meiosis? SUMMARY ANSWER: Meiotic segregation patterns can be affected by the carrier's gender and age, location of breakpoints and chromosome type, and the quadrivalent structure can increase genome instability during meiosis. WHAT IS KNOWN ALREADY: Carriers of reciprocal translocations have an increased genetic reproductive risk owing to the complex segregation patterns of a quadrivalent structure. However, the results of previous studies on the factors that affect segregation patterns seem to be contradictory, and the effect of a quadrivalent on genome stability during meiosis is unknown. STUDY DESIGN, SIZE, DURATION: We designed a retrospective study to analyze the segregation patterns of 24 chromosomes from reciprocal translocation and non-translocation patients. Data for 356 reciprocal translocation carriers and 53 patients with the risk to transmit monogenic inherited disorders (RTMIDs) undergoing PGD-single nucleotide polymorphism array analysis were collected. The study was performed between March 2014 and July 2017. PARTICIPANTS/MATERIALS, SETTING, METHODS: Segregation patterns of a quadrivalent in 1842 blastocysts from 466 assisted reproduction cycles of reciprocal translocation carriers were analyzed according to the location of chromosome breakpoints, the carrier's gender and age, and chromosome type. In addition, to analyze the effect of quadrivalent structure on genome stability, segregation products of chromosomes which are not involved in the translocation from translocation carriers were compared with those of 23 pairs of chromosomes in 318 blastocysts from 72 assisted reproduction cycles of patients with RTMIDs. MAIN RESULTS AND THE ROLE OF CHANCE: The percentage of adjacent-2 products with severe asymmetric quadrivalent was significantly higher than those with mild asymmetric quadrivalent (P = 0.020) while, in contrast, the incidence of 4:0/others was lower (P = 0.030). The frequencies of adjacent-1, adjacent-2 and 3:1 products differed between male and female carriers (P < 0.001, P = 0.015 and P = 0.001, respectively), and also for adjacent-1 and 4:0/others products in young versus older carriers (P = 0.04 and P = 0.002, respectively). In addition, adjacent-1 products of a quadrivalent with an acrocentric chromosome were significantly higher than those of a quadrivalent without an acrocentric chromosome (P = 0.001). Moreover, a quadrivalent could significantly increase the frequencies of abnormal chromosomes compared to patients with RTMIDs (P = 0.048, odds ratio (OR) = 1.43, 95% CI = 1.01-2.43), especially for the male carriers (P = 0.018, OR = 1.58, 95% CI = 1.08-2.25). In contrast, for older carriers, no difference was found in both aneuploidy and segmental anomalies compared to patients with RTMIDs. LIMITATIONS, REASONS FOR CAUTION: The study contained appropriate controls, yet the analysis was limited by a small number of control patients and embryos. WIDER IMPLICATIONS OF THE FINDINGS: Until now, there had been no definite report about the effect of quadrivalents on genome stability in reciprocal translocation carriers compared with control samples, and in the present study the large sample size ensured a detailed analysis of factors with a possible impact on segregation patterns. These data provide a better insight into the meiotic mechanisms involved in non-disjunction events in gametes from reciprocal translocation carriers. In addition, our results will help to provide each reciprocal translocation carrier couple undergoing PGD with more appropriate genetic counseling and a better understanding of the large numbers of abnormal embryos with chromosome aneuploidy. STUDY FUNDING/COMPETING INTEREST(S): The research was supported by the Research Funding of Shanghai Ji Ai Genetics & IVF Institute and the authors declare a lack of competing interests in this study.

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